16140 7754 1 http://www.orpha.net/ORDO/Orphanet_309178 Tay-Sachs disease, B variant, infantile form 'Tay-Sachs disease, B variant, infantile form' SubClassOf 'Tay-Sachs disease' 'Tay-Sachs disease, B variant, infantile form' SubClassOf 'Tay-Sachs disease' http://www.ebi.ac.uk/efo/EFO_1000224 Duodenal Gastrin-Producing Neuroendocrine Tumor 'Duodenal Gastrin-Producing Neuroendocrine Tumor' SubClassOf 'endocrine neoplasm' 'Duodenal Gastrin-Producing Neuroendocrine Tumor' SubClassOf 'endocrine neoplasm' 'Duodenal Gastrin-Producing Neuroendocrine Tumor' SubClassOf 'has_disease_location' some ('duodenum' or ('part_of' some 'duodenum')) http://www.ebi.ac.uk/efo/EFO_1000225 Duodenal Villous Adenoma 'Duodenal Villous Adenoma' SubClassOf 'digestive system disease' 'Duodenal Villous Adenoma' SubClassOf 'adenoma' 'Duodenal Villous Adenoma' SubClassOf 'adenoma' 'Duodenal Villous Adenoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000502 'Duodenal Villous Adenoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021375 'Duodenal Villous Adenoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021303 'Duodenal Villous Adenoma' SubClassOf 'has_disease_location' some ('duodenum' or ('part_of' some 'duodenum')) http://www.ebi.ac.uk/efo/EFO_1000222 Ductal or Ductular Proliferation 'Ductal or Ductular Proliferation' SubClassOf 'neoplasm' 'Ductal or Ductular Proliferation' SubClassOf 'neoplasm' 'Ductal or Ductular Proliferation' SubClassOf 'has_disease_location' some ('biliary system' or ('part_of' some 'biliary system')) http://www.ebi.ac.uk/efo/EFO_1000223 Duodenal Adenocarcinoma 'Duodenal Adenocarcinoma' SubClassOf 'small intestinal adenocarcinoma' 'Duodenal Adenocarcinoma' SubClassOf 'small intestinal adenocarcinoma' 'Duodenal Adenocarcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021335 'Duodenal Adenocarcinoma' SubClassOf 'has_disease_location' some ('duodenum' or ('part_of' some 'duodenum')) http://www.ebi.ac.uk/efo/EFO_1000220 Disseminated Peritoneal Leiomyomatosis 'Disseminated Peritoneal Leiomyomatosis' SubClassOf 'disease of peritoneum' 'Disseminated Peritoneal Leiomyomatosis' SubClassOf 'neoplasm' 'Disseminated Peritoneal Leiomyomatosis' SubClassOf 'has_disease_location' some ('peritoneum' or ('part_of' some 'peritoneum')) 'Disseminated Peritoneal Leiomyomatosis' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0022202 'Disseminated Peritoneal Leiomyomatosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015682 'Disseminated Peritoneal Leiomyomatosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000650 'Disseminated Peritoneal Leiomyomatosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003295 'Disseminated Peritoneal Leiomyomatosis' SubClassOf 'neoplasm' http://www.ebi.ac.uk/efo/EFO_1000221 Ductal Breast Carcinoma In Situ and Lobular Carcinoma In Situ 'Ductal Breast Carcinoma In Situ and Lobular Carcinoma In Situ' SubClassOf 'breast carcinoma' 'Ductal Breast Carcinoma In Situ and Lobular Carcinoma In Situ' SubClassOf 'breast ductal adenocarcinoma' 'Ductal Breast Carcinoma In Situ and Lobular Carcinoma In Situ' SubClassOf 'breast carcinoma' 'Ductal Breast Carcinoma In Situ and Lobular Carcinoma In Situ' SubClassOf 'breast ductal adenocarcinoma' 'Ductal Breast Carcinoma In Situ and Lobular Carcinoma In Situ' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004658 'Ductal Breast Carcinoma In Situ and Lobular Carcinoma In Situ' SubClassOf 'has_disease_location' some ('breast' or ('part_of' some 'breast')) 'Ductal Breast Carcinoma In Situ and Lobular Carcinoma In Situ' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003218 http://www.orpha.net/ORDO/Orphanet_397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome 'Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome' SubClassOf 'Genetic syndrome with a cerebellar malformation as major feature' 'Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome' SubClassOf 'Autosomal recessive cerebellar ataxia' 'Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 http://www.ebi.ac.uk/efo/EFO_1000228 EBV-Positive T-Cell Lymphoproliferative Disorder of Childhood 'EBV-Positive T-Cell Lymphoproliferative Disorder of Childhood' SubClassOf 'lymphoma' 'EBV-Positive T-Cell Lymphoproliferative Disorder of Childhood' SubClassOf 'has_disease_location' some 'T cell' 'EBV-Positive T-Cell Lymphoproliferative Disorder of Childhood' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004805 'EBV-Positive T-Cell Lymphoproliferative Disorder of Childhood' SubClassOf 'lymphoma' 'EBV-Positive T-Cell Lymphoproliferative Disorder of Childhood' SubClassOf 'neoplasm of mature T-cells or NK-cells' http://www.ebi.ac.uk/efo/EFO_1000229 Eccrine Porocarcinoma 'Eccrine Porocarcinoma' SubClassOf 'sweat gland carcinoma' 'Eccrine Porocarcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024240 'Eccrine Porocarcinoma' SubClassOf 'has_disease_location' some ('sweat gland' or ('part_of' some 'sweat gland')) 'Eccrine Porocarcinoma' SubClassOf 'sweat gland carcinoma' http://purl.obolibrary.org/obo/GO_0033577 protein glycosylation in endoplasmic reticulum 'protein glycosylation in endoplasmic reticulum' EquivalentTo 'protein glycosylation' and ('occurs in' some 'endoplasmic reticulum') http://www.ebi.ac.uk/efo/EFO_1000226 Dysplasia in Ulcerative Colitis 'Dysplasia in Ulcerative Colitis' SubClassOf 'stomach neoplasm' 'Dysplasia in Ulcerative Colitis' SubClassOf 'stomach neoplasm' 'Dysplasia in Ulcerative Colitis' SubClassOf 'has_disease_location' some ('stomach' or ('part_of' some 'stomach')) http://www.ebi.ac.uk/efo/EFO_1000227 Dysplasia of Larynx 'Dysplasia of Larynx' SubClassOf 'laryngeal neoplasm' 'Dysplasia of Larynx' SubClassOf 'laryngeal neoplasm' 'Dysplasia of Larynx' SubClassOf 'has_disease_location' some ('larynx' or ('part_of' some 'larynx')) http://purl.obolibrary.org/obo/UBERON_0001103 diaphragm 'diaphragm' SubClassOf 'animal component' 'diaphragm' SubClassOf 'develops_from' some 'mesoderm' 'diaphragm' SubClassOf 'part_of' some 'chest' 'diaphragm' SubClassOf 'part_of' some 'musculature of body' 'diaphragm' SubClassOf http://purl.obolibrary.org/obo/UBERON_0003830 'diaphragm' SubClassOf 'part_of' some 'respiratory system' http://www.orpha.net/ORDO/Orphanet_309185 Tay-Sachs disease, B variant, juvenile form 'Tay-Sachs disease, B variant, juvenile form' SubClassOf 'Tay-Sachs disease' 'Tay-Sachs disease, B variant, juvenile form' SubClassOf 'Tay-Sachs disease' http://www.ebi.ac.uk/efo/EFO_1000235 Endometrial Intraepithelial Neoplasia 'Endometrial Intraepithelial Neoplasia' SubClassOf 'endometrial neoplasm' 'Endometrial Intraepithelial Neoplasia' SubClassOf 'has_disease_location' some ('endometrium' or ('part_of' some 'endometrium')) 'Endometrial Intraepithelial Neoplasia' SubClassOf 'endometrial neoplasm' http://www.orpha.net/ORDO/Orphanet_397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy 'Joubert syndrome with Jeune asphyxiating thoracic dystrophy' SubClassOf 'Short rib-polydactyly syndrome' 'Joubert syndrome with Jeune asphyxiating thoracic dystrophy' SubClassOf 'Joubert syndrome and related disorders' 'Joubert syndrome with Jeune asphyxiating thoracic dystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 'Joubert syndrome with Jeune asphyxiating thoracic dystrophy' SubClassOf 'Short rib-polydactyly syndrome' 'Joubert syndrome with Jeune asphyxiating thoracic dystrophy' SubClassOf 'Joubert syndrome and related disorders' http://www.ebi.ac.uk/efo/EFO_1000236 Endometrial Mucinous Adenocarcinoma 'Endometrial Mucinous Adenocarcinoma' SubClassOf 'endometrium adenocarcinoma' 'Endometrial Mucinous Adenocarcinoma' SubClassOf 'mucinous carcinoma' 'Endometrial Mucinous Adenocarcinoma' SubClassOf 'has_disease_location' some ('endometrium' or ('part_of' some 'endometrium')) 'Endometrial Mucinous Adenocarcinoma' SubClassOf 'endometrium adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_1000233 Endometrial Endometrioid Adenocarcinoma 'Endometrial Endometrioid Adenocarcinoma' SubClassOf 'adenocarcinoma' 'Endometrial Endometrioid Adenocarcinoma' SubClassOf 'female reproductive system disease' 'Endometrial Endometrioid Adenocarcinoma' SubClassOf 'urogenital neoplasm' 'Endometrial Endometrioid Adenocarcinoma' SubClassOf 'adenocarcinoma' 'Endometrial Endometrioid Adenocarcinoma' SubClassOf 'has_disease_location' some ('endometrium' or ('part_of' some 'endometrium')) 'Endometrial Endometrioid Adenocarcinoma' SubClassOf 'endometrioid carcinoma' http://www.ebi.ac.uk/efo/EFO_1000234 Endometrial Hyperplasia without Atypia 'Endometrial Hyperplasia without Atypia' SubClassOf 'hyperplasia' 'Endometrial Hyperplasia without Atypia' SubClassOf 'female reproductive system disease' 'Endometrial Hyperplasia without Atypia' SubClassOf 'has_disease_location' some ('endometrium' or ('part_of' some 'endometrium')) 'Endometrial Hyperplasia without Atypia' SubClassOf 'hyperplasia' 'Endometrial Hyperplasia without Atypia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0041161 http://www.ebi.ac.uk/efo/EFO_1000231 Endometrial Clear Cell Adenocarcinoma 'Endometrial Clear Cell Adenocarcinoma' SubClassOf 'clear cell adenocarcinoma' 'Endometrial Clear Cell Adenocarcinoma' SubClassOf 'endometrium adenocarcinoma' 'Endometrial Clear Cell Adenocarcinoma' SubClassOf 'clear cell adenocarcinoma' 'Endometrial Clear Cell Adenocarcinoma' SubClassOf 'has_disease_location' some ('endometrium' or ('part_of' some 'endometrium')) 'Endometrial Clear Cell Adenocarcinoma' SubClassOf 'endometrium adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_1000232 Endometrial Cyst 'Endometrial Cyst' SubClassOf 'endometrial neoplasm' 'Endometrial Cyst' SubClassOf 'endometrial neoplasm' 'Endometrial Cyst' SubClassOf 'has_disease_location' some ('endometrium' or ('part_of' some 'endometrium')) http://www.ebi.ac.uk/efo/EFO_1000230 Endolymphatic Sac Tumor 'Endolymphatic Sac Tumor' SubClassOf 'neoplasm' 'Endolymphatic Sac Tumor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021096 'Endolymphatic Sac Tumor' SubClassOf 'neoplasm' 'Endolymphatic Sac Tumor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024320 http://www.ebi.ac.uk/efo/EFO_1000239 Endometrial Small Cell Carcinoma 'Endometrial Small Cell Carcinoma' SubClassOf 'endometrial carcinoma' 'Endometrial Small Cell Carcinoma' SubClassOf 'has_disease_location' some ('endometrium' or ('part_of' some 'endometrium')) 'Endometrial Small Cell Carcinoma' SubClassOf 'endometrial carcinoma' 'Endometrial Small Cell Carcinoma' SubClassOf 'carcinoma' 'Endometrial Small Cell Carcinoma' SubClassOf 'small cell carcinoma' http://www.ebi.ac.uk/efo/EFO_1000237 Endometrial Polyp 'Endometrial Polyp' SubClassOf 'endometrial neoplasm' 'Endometrial Polyp' SubClassOf 'uterine polyp' 'Endometrial Polyp' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021251 'Endometrial Polyp' SubClassOf 'has_disease_location' some ('endometrium' or ('part_of' some 'endometrium')) 'Endometrial Polyp' SubClassOf 'endometrial neoplasm' 'Endometrial Polyp' SubClassOf 'uterine polyp' http://www.ebi.ac.uk/efo/EFO_1000238 Endometrial Serous Adenocarcinoma 'Endometrial Serous Adenocarcinoma' SubClassOf 'serous adenocarcinoma' 'Endometrial Serous Adenocarcinoma' SubClassOf 'endometrial carcinoma' 'Endometrial Serous Adenocarcinoma' SubClassOf 'serous adenocarcinoma' 'Endometrial Serous Adenocarcinoma' SubClassOf 'endometrial carcinoma' 'Endometrial Serous Adenocarcinoma' SubClassOf 'has_disease_location' some ('endometrium' or ('part_of' some 'endometrium')) http://purl.obolibrary.org/obo/UBERON_0001111 intercostal muscle 'intercostal muscle' SubClassOf 'develops_from' some 'musculature of body' 'intercostal muscle' SubClassOf 'develops_from' some 'presomitic mesoderm' 'intercostal muscle' SubClassOf 'part_of' some 'musculature of body' 'intercostal muscle' SubClassOf 'part_of' some 'chest' http://www.orpha.net/ORDO/Orphanet_309152 GM2 gangliosidosis 'GM2 gangliosidosis' SubClassOf 'Genetic neurodegenerative disease' 'GM2 gangliosidosis' SubClassOf 'Neurometabolic disease' 'GM2 gangliosidosis' SubClassOf 'Gangliosidosis' 'GM2 gangliosidosis' SubClassOf 'Genetic neurodegenerative disease' 'GM2 gangliosidosis' SubClassOf 'Gangliosidosis' 'GM2 gangliosidosis' SubClassOf 'Neurometabolic disease' http://www.orpha.net/ORDO/Orphanet_156728 Spondyloepimetaphyseal dysplasia, matrilin-3 type 'Spondyloepimetaphyseal dysplasia, matrilin-3 type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Spondyloepimetaphyseal dysplasia, matrilin-3 type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Spondyloepimetaphyseal dysplasia, matrilin-3 type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000844 http://www.orpha.net/ORDO/Orphanet_309155 Sandhoff disease, infantile form 'Sandhoff disease, infantile form' SubClassOf 'Sandhoff disease' 'Sandhoff disease, infantile form' SubClassOf 'Sandhoff disease' http://www.ebi.ac.uk/efo/EFO_1000246 Ethmoid Sinus Adenoid Cystic Carcinoma 'Ethmoid Sinus Adenoid Cystic Carcinoma' SubClassOf 'paranasal sinus neoplasm' 'Ethmoid Sinus Adenoid Cystic Carcinoma' SubClassOf 'adenoid cystic carcinoma' 'Ethmoid Sinus Adenoid Cystic Carcinoma' SubClassOf 'paranasal sinus neoplasm' 'Ethmoid Sinus Adenoid Cystic Carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001763 'Ethmoid Sinus Adenoid Cystic Carcinoma' SubClassOf 'Paranasal Sinus Adenoid Cystic Carcinoma' 'Ethmoid Sinus Adenoid Cystic Carcinoma' SubClassOf 'adenoid cystic carcinoma' http://www.ebi.ac.uk/efo/EFO_1000247 Extrahepatic Bile Duct Adenosquamous Carcinoma 'Extrahepatic Bile Duct Adenosquamous Carcinoma' SubClassOf 'bile duct carcinoma' 'Extrahepatic Bile Duct Adenosquamous Carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003549 'Extrahepatic Bile Duct Adenosquamous Carcinoma' SubClassOf 'has_disease_location' some ('bile duct' or ('part_of' some 'bile duct')) 'Extrahepatic Bile Duct Adenosquamous Carcinoma' SubClassOf 'Extrahepatic Bile Duct Squamous Cell Carcinoma' 'Extrahepatic Bile Duct Adenosquamous Carcinoma' SubClassOf 'bile duct carcinoma' http://www.ebi.ac.uk/efo/EFO_1000244 Epithelioid Cell Uveal Melanoma 'Epithelioid Cell Uveal Melanoma' SubClassOf 'melanoma' 'Epithelioid Cell Uveal Melanoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002973 'Epithelioid Cell Uveal Melanoma' SubClassOf 'melanoma' 'Epithelioid Cell Uveal Melanoma' SubClassOf 'Uveal Melanoma' http://www.ebi.ac.uk/efo/EFO_1000245 Epithelioid Malignant Peripheral Nerve Sheath Tumor 'Epithelioid Malignant Peripheral Nerve Sheath Tumor' SubClassOf 'malignant peripheral nerve sheath tumor' 'Epithelioid Malignant Peripheral Nerve Sheath Tumor' SubClassOf 'malignant peripheral nerve sheath tumor' http://www.ebi.ac.uk/efo/EFO_1000242 Endometrial Undifferentiated Carcinoma 'Endometrial Undifferentiated Carcinoma' SubClassOf 'endometrial carcinoma' 'Endometrial Undifferentiated Carcinoma' SubClassOf 'undifferentiated carcinoma' 'Endometrial Undifferentiated Carcinoma' SubClassOf 'endometrial carcinoma' 'Endometrial Undifferentiated Carcinoma' SubClassOf 'has_disease_location' some ('endometrium' or ('part_of' some 'endometrium')) 'Endometrial Undifferentiated Carcinoma' SubClassOf 'carcinoma' http://www.ebi.ac.uk/efo/EFO_1000243 Epidermal Inclusion Cyst 'Epidermal Inclusion Cyst' SubClassOf 'skin neoplasm' 'Epidermal Inclusion Cyst' SubClassOf 'skin neoplasm' 'Epidermal Inclusion Cyst' SubClassOf 'has_disease_location' some ('epidermis' or ('part_of' some 'epidermis')) http://www.ebi.ac.uk/efo/EFO_1000240 Endometrial Squamous Cell Carcinoma 'Endometrial Squamous Cell Carcinoma' SubClassOf 'endometrial carcinoma' 'Endometrial Squamous Cell Carcinoma' SubClassOf 'squamous cell carcinoma' 'Endometrial Squamous Cell Carcinoma' SubClassOf 'endometrial carcinoma' 'Endometrial Squamous Cell Carcinoma' SubClassOf 'has_disease_location' some ('endometrium' or ('part_of' some 'endometrium')) 'Endometrial Squamous Cell Carcinoma' SubClassOf 'squamous cell carcinoma' http://www.ebi.ac.uk/efo/EFO_1000241 Endometrial Stromal Nodule 'Endometrial Stromal Nodule' SubClassOf 'endometrial neoplasm' 'Endometrial Stromal Nodule' SubClassOf 'endometrial neoplasm' 'Endometrial Stromal Nodule' SubClassOf 'has_disease_location' some ('endometrium' or ('part_of' some 'endometrium')) http://www.ebi.ac.uk/efo/EFO_1000248 Extrahepatic Bile Duct Squamous Cell Carcinoma 'Extrahepatic Bile Duct Squamous Cell Carcinoma' SubClassOf 'bile duct carcinoma' 'Extrahepatic Bile Duct Squamous Cell Carcinoma' SubClassOf 'squamous cell carcinoma' 'Extrahepatic Bile Duct Squamous Cell Carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003090 'Extrahepatic Bile Duct Squamous Cell Carcinoma' SubClassOf 'bile duct carcinoma' 'Extrahepatic Bile Duct Squamous Cell Carcinoma' SubClassOf 'has_disease_location' some ('bile duct' or ('part_of' some 'bile duct')) 'Extrahepatic Bile Duct Squamous Cell Carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003500 'Extrahepatic Bile Duct Squamous Cell Carcinoma' SubClassOf 'squamous cell carcinoma' http://www.ebi.ac.uk/efo/EFO_1000249 Extramammary Paget Disease 'Extramammary Paget Disease' SubClassOf 'adenocarcinoma' 'Extramammary Paget Disease' SubClassOf 'has_disease_location' some ('zone of skin' or ('part_of' some 'zone of skin')) 'Extramammary Paget Disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021165 'Extramammary Paget Disease' SubClassOf 'adenocarcinoma' http://purl.obolibrary.org/obo/UBERON_0001124 obsolete_pectoral limb scapula 'obsolete_pectoral limb scapula' SubClassOf 'obsolete class' 'obsolete_pectoral limb scapula' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_156731 Dyssegmental dysplasia, Rolland-Desbuquois type 'Dyssegmental dysplasia, Rolland-Desbuquois type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Dyssegmental dysplasia, Rolland-Desbuquois type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' http://www.ebi.ac.uk/efo/EFO_1000250 Extraskeletal Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor 'Extraskeletal Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor' SubClassOf 'embryonal neoplasm' 'Extraskeletal Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor' SubClassOf 'embryonal neoplasm' 'Extraskeletal Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021038 http://www.orpha.net/ORDO/Orphanet_309162 Sandhoff disease, juvenile form 'Sandhoff disease, juvenile form' SubClassOf 'Sandhoff disease' 'Sandhoff disease, juvenile form' SubClassOf 'Sandhoff disease' http://purl.obolibrary.org/obo/UBERON_0002469 esophagus mucosa 'esophagus mucosa' EquivalentTo 'mucosa' and ('part_of' some 'esophagus') 'esophagus mucosa' SubClassOf 'part_of' some 'esophagus' http://www.orpha.net/ORDO/Orphanet_309169 Sandhoff disease, adult form 'Sandhoff disease, adult form' SubClassOf 'Sandhoff disease' 'Sandhoff disease, adult form' SubClassOf 'Sandhoff disease' http://www.ebi.ac.uk/efo/EFO_1000257 Fibrous Hamartoma of Infancy 'Fibrous Hamartoma of Infancy' SubClassOf 'neoplasm' 'Fibrous Hamartoma of Infancy' SubClassOf 'neoplasm' 'Fibrous Hamartoma of Infancy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024478 'Fibrous Hamartoma of Infancy' SubClassOf 'part_of' some 'infant' http://www.ebi.ac.uk/efo/EFO_1000258 Fibrous Meningioma 'Fibrous Meningioma' SubClassOf 'Meningioma' 'Fibrous Meningioma' SubClassOf 'has_disease_location' some ('meninx' or ('part_of' some 'meninx')) 'Fibrous Meningioma' SubClassOf 'Meningioma' http://www.ebi.ac.uk/efo/EFO_1000255 Fibroblastic Neoplasm 'Fibroblastic Neoplasm' SubClassOf 'neoplasm' 'Fibroblastic Neoplasm' SubClassOf 'neoplasm' 'Fibroblastic Neoplasm' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002616 'Fibroblastic Neoplasm' SubClassOf 'has_disease_location' some 'fibroblast' 'Fibroblastic Neoplasm' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021581 http://www.ebi.ac.uk/efo/EFO_1000256 Fibrolamellar Carcinoma 'Fibrolamellar Carcinoma' SubClassOf 'hepatocellular carcinoma' 'Fibrolamellar Carcinoma' SubClassOf 'hepatocellular carcinoma' http://www.ebi.ac.uk/efo/EFO_1000253 Fallopian Tube Serous Adenocarcinoma 'Fallopian Tube Serous Adenocarcinoma' SubClassOf 'urogenital neoplasm' 'Fallopian Tube Serous Adenocarcinoma' SubClassOf 'serous adenocarcinoma' 'Fallopian Tube Serous Adenocarcinoma' SubClassOf 'female reproductive system disease' 'Fallopian Tube Serous Adenocarcinoma' SubClassOf 'serous adenocarcinoma' 'Fallopian Tube Serous Adenocarcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002746 'Fallopian Tube Serous Adenocarcinoma' SubClassOf 'has_disease_location' some ('fallopian tube' or ('part_of' some 'fallopian tube')) http://www.ebi.ac.uk/efo/EFO_1000254 Fibroadenoma 'Fibroadenoma' SubClassOf 'breast neoplasm' 'Fibroadenoma' SubClassOf 'has_disease_location' some ('breast' or ('part_of' some 'breast')) 'Fibroadenoma' SubClassOf 'breast neoplasm' http://www.ebi.ac.uk/efo/EFO_1000251 Fallopian Tube Carcinoma 'Fallopian Tube Carcinoma' SubClassOf 'urogenital neoplasm' 'Fallopian Tube Carcinoma' SubClassOf 'carcinoma' 'Fallopian Tube Carcinoma' SubClassOf 'female reproductive system disease' 'Fallopian Tube Carcinoma' SubClassOf 'has_disease_location' some ('fallopian tube' or ('part_of' some 'fallopian tube')) 'Fallopian Tube Carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002158 'Fallopian Tube Carcinoma' SubClassOf 'carcinoma' http://www.ebi.ac.uk/efo/EFO_1000252 Fallopian Tube Carcinosarcoma 'Fallopian Tube Carcinosarcoma' SubClassOf 'Fallopian Tube Carcinoma' 'Fallopian Tube Carcinosarcoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002928 'Fallopian Tube Carcinosarcoma' SubClassOf 'has_disease_location' some ('fallopian tube' or ('part_of' some 'fallopian tube')) 'Fallopian Tube Carcinosarcoma' SubClassOf 'Fallopian Tube Carcinoma' http://www.ebi.ac.uk/efo/EFO_1000259 Flat Urothelial Hyperplasia 'Flat Urothelial Hyperplasia' SubClassOf 'hyperplasia' 'Flat Urothelial Hyperplasia' SubClassOf 'hyperplasia' 'Flat Urothelial Hyperplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024483 http://purl.obolibrary.org/obo/UBERON_0001134 skeletal muscle tissue 'skeletal muscle tissue' SubClassOf 'part_of' some 'skeletal muscle organ' http://purl.obolibrary.org/obo/UBERON_0001135 smooth muscle tissue 'smooth muscle tissue' SubClassOf 'smooth muscle' 'smooth muscle tissue' SubClassOf 'smooth muscle' http://www.orpha.net/ORDO/Orphanet_322126 Genetic tumor of hematopoietic and lymphoid tissues 'Genetic tumor of hematopoietic and lymphoid tissues' SubClassOf 'hematologic disease' 'Genetic tumor of hematopoietic and lymphoid tissues' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020006 'Genetic tumor of hematopoietic and lymphoid tissues' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002334 'Genetic tumor of hematopoietic and lymphoid tissues' SubClassOf 'has_disease_location' some ('hematopoietic system' or ('part_of' some 'hematopoietic system')) http://purl.obolibrary.org/obo/UBERON_0003728 mediastinum 'mediastinum' SubClassOf 'part_of' some 'trunk' http://www.ebi.ac.uk/efo/EFO_1000260 Floor of Mouth Mucoepidermoid Carcinoma 'Floor of Mouth Mucoepidermoid Carcinoma' SubClassOf 'oral cavity cancer' 'Floor of Mouth Mucoepidermoid Carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021343 'Floor of Mouth Mucoepidermoid Carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044964 'Floor of Mouth Mucoepidermoid Carcinoma' SubClassOf 'oral cavity cancer' 'Floor of Mouth Mucoepidermoid Carcinoma' SubClassOf 'has_disease_location' some ('mouth' or ('part_of' some 'mouth')) http://www.ebi.ac.uk/efo/EFO_1000261 Follicular Variant Thyroid Gland Papillary Carcinoma 'Follicular Variant Thyroid Gland Papillary Carcinoma' SubClassOf 'adenocarcinoma' 'Follicular Variant Thyroid Gland Papillary Carcinoma' SubClassOf 'has_disease_location' some ('thyroid gland' or ('part_of' some 'thyroid gland')) 'Follicular Variant Thyroid Gland Papillary Carcinoma' SubClassOf 'adenocarcinoma' http://www.orpha.net/ORDO/Orphanet_309130 Disorder of carnitine cycle and carnitine transport 'Disorder of carnitine cycle and carnitine transport' SubClassOf 'Disorder of fatty acid oxidation and ketone body metabolism' 'Disorder of carnitine cycle and carnitine transport' SubClassOf 'Disorder of fatty acid oxidation and ketone body metabolism' http://purl.obolibrary.org/obo/UBERON_0003729 mouth mucosa 'mouth mucosa' SubClassOf 'animal component' 'mouth mucosa' SubClassOf 'part_of' some 'mouth' 'mouth mucosa' SubClassOf 'mucosa' http://www.orpha.net/ORDO/Orphanet_309136 Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes 'Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' 'Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' http://www.orpha.net/ORDO/Orphanet_309133 Metabolic disease due to other fatty acid oxidation disorder 'Metabolic disease due to other fatty acid oxidation disorder' SubClassOf 'Disorder of fatty acid oxidation and ketone body metabolism' 'Metabolic disease due to other fatty acid oxidation disorder' SubClassOf 'Disorder of fatty acid oxidation and ketone body metabolism' http://www.ebi.ac.uk/efo/EFO_1000268 Gastric Adenoma 'Gastric Adenoma' SubClassOf 'stomach neoplasm' 'Gastric Adenoma' SubClassOf 'polyp' 'Gastric Adenoma' SubClassOf 'adenoma' 'Gastric Adenoma' SubClassOf 'polyp' 'Gastric Adenoma' SubClassOf 'Digestive System Adenoma' 'Gastric Adenoma' SubClassOf 'adenoma' 'Gastric Adenoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0008277 'Gastric Adenoma' SubClassOf 'has_disease_location' some ('stomach' or ('part_of' some 'stomach')) http://www.ebi.ac.uk/efo/EFO_1000269 Gastric Choriocarcinoma 'Gastric Choriocarcinoma' SubClassOf 'stomach neoplasm' 'Gastric Choriocarcinoma' SubClassOf 'choriocarcinoma' 'Gastric Choriocarcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003578 'Gastric Choriocarcinoma' SubClassOf 'has_disease_location' some ('stomach' or ('part_of' some 'stomach')) 'Gastric Choriocarcinoma' SubClassOf 'choriocarcinoma' 'Gastric Choriocarcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003112 http://www.ebi.ac.uk/efo/EFO_1000266 Gallbladder Small Cell Neuroendocrine Carcinoma 'Gallbladder Small Cell Neuroendocrine Carcinoma' SubClassOf 'gallbladder neoplasm' 'Gallbladder Small Cell Neuroendocrine Carcinoma' SubClassOf 'gallbladder disease' 'Gallbladder Small Cell Neuroendocrine Carcinoma' SubClassOf 'carcinoma' 'Gallbladder Small Cell Neuroendocrine Carcinoma' SubClassOf 'gallbladder carcinoma' 'Gallbladder Small Cell Neuroendocrine Carcinoma' SubClassOf 'gallbladder neoplasm' 'Gallbladder Small Cell Neuroendocrine Carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024502 'Gallbladder Small Cell Neuroendocrine Carcinoma' SubClassOf 'small cell carcinoma' 'Gallbladder Small Cell Neuroendocrine Carcinoma' SubClassOf 'has_disease_location' some ('gallbladder' or ('part_of' some 'gallbladder')) 'Gallbladder Small Cell Neuroendocrine Carcinoma' SubClassOf 'carcinoma' http://www.ebi.ac.uk/efo/EFO_1000267 Gallbladder Squamous Cell Carcinoma 'Gallbladder Squamous Cell Carcinoma' SubClassOf 'gallbladder disease' 'Gallbladder Squamous Cell Carcinoma' SubClassOf 'squamous cell carcinoma' 'Gallbladder Squamous Cell Carcinoma' SubClassOf 'gallbladder neoplasm' 'Gallbladder Squamous Cell Carcinoma' SubClassOf 'gallbladder carcinoma' 'Gallbladder Squamous Cell Carcinoma' SubClassOf 'squamous cell carcinoma' 'Gallbladder Squamous Cell Carcinoma' SubClassOf 'gallbladder neoplasm' 'Gallbladder Squamous Cell Carcinoma' SubClassOf 'has_disease_location' some ('gallbladder' or ('part_of' some 'gallbladder')) http://www.ebi.ac.uk/efo/EFO_1000264 Gallbladder Adenosquamous Carcinoma 'Gallbladder Adenosquamous Carcinoma' SubClassOf 'gallbladder disease' 'Gallbladder Adenosquamous Carcinoma' SubClassOf 'carcinoma' 'Gallbladder Adenosquamous Carcinoma' SubClassOf 'gallbladder neoplasm' 'Gallbladder Adenosquamous Carcinoma' SubClassOf 'has_disease_location' some ('gallbladder' or ('part_of' some 'gallbladder')) 'Gallbladder Adenosquamous Carcinoma' SubClassOf 'Gallbladder Squamous Cell Carcinoma' 'Gallbladder Adenosquamous Carcinoma' SubClassOf 'gallbladder neoplasm' 'Gallbladder Adenosquamous Carcinoma' SubClassOf 'carcinoma' 'Gallbladder Adenosquamous Carcinoma' SubClassOf 'Adenosquamous Carcinoma' http://www.ebi.ac.uk/efo/EFO_1000265 Gallbladder Biliary Intraepithelial Neoplasia 'Gallbladder Biliary Intraepithelial Neoplasia' SubClassOf 'gallbladder disease' 'Gallbladder Biliary Intraepithelial Neoplasia' SubClassOf 'gallbladder neoplasm' 'Gallbladder Biliary Intraepithelial Neoplasia' SubClassOf 'has_disease_location' some ('gallbladder' or ('part_of' some 'gallbladder')) 'Gallbladder Biliary Intraepithelial Neoplasia' SubClassOf 'gallbladder neoplasm' http://www.ebi.ac.uk/efo/EFO_1000262 Gallbladder Adenocarcinoma 'Gallbladder Adenocarcinoma' SubClassOf 'gallbladder neoplasm' 'Gallbladder Adenocarcinoma' SubClassOf 'adenocarcinoma' 'Gallbladder Adenocarcinoma' SubClassOf 'gallbladder disease' 'Gallbladder Adenocarcinoma' SubClassOf 'gallbladder carcinoma' 'Gallbladder Adenocarcinoma' SubClassOf 'gallbladder neoplasm' 'Gallbladder Adenocarcinoma' SubClassOf 'has_disease_location' some ('gallbladder' or ('part_of' some 'gallbladder')) 'Gallbladder Adenocarcinoma' SubClassOf 'adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_1000263 Gallbladder Adenoma 'Gallbladder Adenoma' SubClassOf 'gallbladder neoplasm' 'Gallbladder Adenoma' SubClassOf 'adenoma' 'Gallbladder Adenoma' SubClassOf 'polyp' 'Gallbladder Adenoma' SubClassOf 'gallbladder disease' 'Gallbladder Adenoma' SubClassOf 'adenoma' 'Gallbladder Adenoma' SubClassOf 'gallbladder neoplasm' 'Gallbladder Adenoma' SubClassOf 'polyp' 'Gallbladder Adenoma' SubClassOf 'Digestive System Adenoma' 'Gallbladder Adenoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021416 'Gallbladder Adenoma' SubClassOf 'has_disease_location' some ('gallbladder' or ('part_of' some 'gallbladder')) http://www.orpha.net/ORDO/Orphanet_397750 Periodic paralysis with later-onset distal motor neuropathy 'Periodic paralysis with later-onset distal motor neuropathy' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' 'Periodic paralysis with later-onset distal motor neuropathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Periodic paralysis with later-onset distal motor neuropathy' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' 'Periodic paralysis with later-onset distal motor neuropathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016122 'Periodic paralysis with later-onset distal motor neuropathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000995 http://www.orpha.net/ORDO/Orphanet_397755 Periodic paralysis with transient compartment-like syndrome 'Periodic paralysis with transient compartment-like syndrome' SubClassOf 'muscular channelopathy' 'Periodic paralysis with transient compartment-like syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000995 'Periodic paralysis with transient compartment-like syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016122 http://purl.obolibrary.org/obo/CHEBI_3390 carbaryl 'carbaryl' SubClassOf 'has_role' some 'insecticide' http://purl.obolibrary.org/obo/UBERON_0002407 pericardium 'pericardium' SubClassOf 'part_of' some 'heart' http://www.ebi.ac.uk/efo/EFO_1000271 Gastric Hamartomatous Polyp 'Gastric Hamartomatous Polyp' SubClassOf 'stomach neoplasm' 'Gastric Hamartomatous Polyp' SubClassOf 'polyp' 'Gastric Hamartomatous Polyp' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021085 'Gastric Hamartomatous Polyp' SubClassOf 'has_disease_location' some ('stomach' or ('part_of' some 'stomach')) 'Gastric Hamartomatous Polyp' SubClassOf 'polyp' 'Gastric Hamartomatous Polyp' SubClassOf 'Gastrointestinal Hamartoma' http://www.ebi.ac.uk/efo/EFO_1000272 Gastric Mantle Cell Lymphoma 'Gastric Mantle Cell Lymphoma' SubClassOf 'Mantle cell lymphoma' 'Gastric Mantle Cell Lymphoma' SubClassOf 'gastric carcinoma' 'Gastric Mantle Cell Lymphoma' SubClassOf 'Mantle cell lymphoma' 'Gastric Mantle Cell Lymphoma' SubClassOf 'lymphoma' 'Gastric Mantle Cell Lymphoma' SubClassOf 'has_disease_location' some 'mantle cell' 'Gastric Mantle Cell Lymphoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0042493 'Gastric Mantle Cell Lymphoma' SubClassOf 'gastric carcinoma' 'Gastric Mantle Cell Lymphoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000621 http://www.ebi.ac.uk/efo/EFO_1000270 Gastric Diffuse Large B-Cell Lymphoma 'Gastric Diffuse Large B-Cell Lymphoma' SubClassOf 'diffuse large B-cell lymphoma' 'Gastric Diffuse Large B-Cell Lymphoma' SubClassOf 'diffuse large B-cell lymphoma' 'Gastric Diffuse Large B-Cell Lymphoma' SubClassOf 'has_disease_location' some ('stomach' or ('part_of' some 'stomach')) 'Gastric Diffuse Large B-Cell Lymphoma' SubClassOf 'has_disease_location' some 'lymphocyte of B lineage' http://www.orpha.net/ORDO/Orphanet_309147 Hyper-beta-alaninemia 'Hyper-beta-alaninemia' SubClassOf 'Disorder of pyrimidine metabolism' 'Hyper-beta-alaninemia' SubClassOf 'Rare genetic neurological disorder' 'Hyper-beta-alaninemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016399 'Hyper-beta-alaninemia' SubClassOf 'Disorder of pyrimidine metabolism' http://purl.obolibrary.org/obo/UBERON_0002405 immune system 'gustatory system' DisjointWith 'immune system' 'skeletal system' DisjointWith 'immune system' 'digestive system' DisjointWith 'immune system' 'nervous system' DisjointWith 'immune system' 'reproductive system' DisjointWith 'immune system' 'renal system' DisjointWith 'immune system' 'circulatory system' DisjointWith 'immune system' 'endocrine system' DisjointWith 'immune system' 'immune system' DisjointWith http://purl.obolibrary.org/obo/UBERON_0004456 'biliary system' DisjointWith 'immune system' 'respiratory system' DisjointWith 'immune system' http://purl.obolibrary.org/obo/UBERON_0002204 DisjointWith 'immune system' 'immune system' DisjointWith 'hepatobiliary system' http://purl.obolibrary.org/obo/UBERON_0002330 DisjointWith 'immune system' 'immune system' DisjointWith 'integumental system' 'hematopoietic system' DisjointWith 'immune system' http://www.orpha.net/ORDO/Orphanet_309144 Gangliosidosis 'Gangliosidosis' SubClassOf 'Sphingolipidosis' 'Gangliosidosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018299 http://www.ebi.ac.uk/efo/EFO_1000279 obsolete_gastric tubular adenocarcinoma 'obsolete_gastric tubular adenocarcinoma' SubClassOf 'obsolete class' 'obsolete_gastric tubular adenocarcinoma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_397758 Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies 'Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies' SubClassOf 'Retinal dystrophy' 'Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies' SubClassOf 'Retinal dystrophy' http://www.ebi.ac.uk/efo/EFO_1000277 Gastric Small Cell Neuroendocrine Carcinoma 'Gastric Small Cell Neuroendocrine Carcinoma' SubClassOf 'gastric carcinoma' 'Gastric Small Cell Neuroendocrine Carcinoma' SubClassOf 'gastric carcinoma' 'Gastric Small Cell Neuroendocrine Carcinoma' SubClassOf 'small cell carcinoma' 'Gastric Small Cell Neuroendocrine Carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003111 'Gastric Small Cell Neuroendocrine Carcinoma' SubClassOf 'has_disease_location' some ('stomach' or ('part_of' some 'stomach')) http://www.ebi.ac.uk/efo/EFO_1000278 Gastric Squamous Cell Carcinoma 'Gastric Squamous Cell Carcinoma' SubClassOf 'gastric carcinoma' 'Gastric Squamous Cell Carcinoma' SubClassOf 'squamous cell carcinoma' 'Gastric Squamous Cell Carcinoma' SubClassOf 'gastric carcinoma' 'Gastric Squamous Cell Carcinoma' SubClassOf 'squamous cell carcinoma' 'Gastric Squamous Cell Carcinoma' SubClassOf 'has_disease_location' some ('stomach' or ('part_of' some 'stomach')) 'Gastric Squamous Cell Carcinoma' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://www.ebi.ac.uk/efo/EFO_1000275 Gastric Neuroendocrine Tumor G1 'Gastric Neuroendocrine Tumor G1' SubClassOf 'carcinoid tumor' 'Gastric Neuroendocrine Tumor G1' SubClassOf 'stomach neoplasm' 'Gastric Neuroendocrine Tumor G1' SubClassOf 'carcinoid tumor' 'Gastric Neuroendocrine Tumor G1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000540 'Gastric Neuroendocrine Tumor G1' SubClassOf 'has_disease_location' some ('stomach' or ('part_of' some 'stomach')) 'Gastric Neuroendocrine Tumor G1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015062 http://www.ebi.ac.uk/efo/EFO_1000276 Gastric Papillary Adenocarcinoma 'Gastric Papillary Adenocarcinoma' SubClassOf 'gastric adenocarcinoma' 'Gastric Papillary Adenocarcinoma' SubClassOf 'gastric adenocarcinoma' 'Gastric Papillary Adenocarcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002512 http://www.ebi.ac.uk/efo/EFO_1000273 Gastric Metaplasia 'Gastric Metaplasia' SubClassOf 'stomach neoplasm' 'Gastric Metaplasia' SubClassOf 'has_disease_location' some ('stomach' or ('part_of' some 'stomach')) 'Gastric Metaplasia' SubClassOf 'stomach neoplasm' http://www.ebi.ac.uk/efo/EFO_1000274 Gastric Mucosa-Associated Lymphoid Tissue Lymphoma 'Gastric Mucosa-Associated Lymphoid Tissue Lymphoma' SubClassOf 'lymphoma' 'Gastric Mucosa-Associated Lymphoid Tissue Lymphoma' SubClassOf 'stomach neoplasm' 'Gastric Mucosa-Associated Lymphoid Tissue Lymphoma' SubClassOf 'has_disease_location' some 'lymphocyte of B lineage' 'Gastric Mucosa-Associated Lymphoid Tissue Lymphoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0042493 'Gastric Mucosa-Associated Lymphoid Tissue Lymphoma' SubClassOf 'has_disease_location' some ('stomach' or ('part_of' some 'stomach')) 'Gastric Mucosa-Associated Lymphoid Tissue Lymphoma' SubClassOf 'MALT lymphoma' 'Gastric Mucosa-Associated Lymphoid Tissue Lymphoma' SubClassOf 'lymphoma' http://www.orpha.net/ORDO/Orphanet_324761 Microcephalic primordial dwarfism 'Microcephalic primordial dwarfism' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Microcephalic primordial dwarfism' SubClassOf 'Syndrome with microcephaly as major feature' 'Microcephalic primordial dwarfism' SubClassOf 'Slender bone dysplasia' 'Microcephalic primordial dwarfism' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Microcephalic primordial dwarfism' SubClassOf 'Syndrome with microcephaly as major feature' 'Microcephalic primordial dwarfism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Microcephalic primordial dwarfism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 'Microcephalic primordial dwarfism' SubClassOf 'Slender bone dysplasia' http://www.orpha.net/ORDO/Orphanet_324764 Trichorhinophalangeal syndrome 'Trichorhinophalangeal syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Trichorhinophalangeal syndrome' SubClassOf 'Acromelic dysplasia' 'Trichorhinophalangeal syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Trichorhinophalangeal syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 'Trichorhinophalangeal syndrome' SubClassOf 'Acromelic dysplasia' http://www.ebi.ac.uk/efo/EFO_1000282 Gonadal Teratoma 'Gonadal Teratoma' SubClassOf 'germ cell tumor' 'Gonadal Teratoma' SubClassOf 'has_disease_location' some ('testis' or ('part_of' some 'testis')) 'Gonadal Teratoma' SubClassOf 'has_disease_location' some ('female gonad' or ('part_of' some 'female gonad')) 'Gonadal Teratoma' SubClassOf 'germ cell tumor' 'Gonadal Teratoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002601 http://www.ebi.ac.uk/efo/EFO_1000283 Grade III Prostatic Intraepithelial Neoplasia 'Grade III Prostatic Intraepithelial Neoplasia' SubClassOf 'prostate intraepithelial neoplasia' 'Grade III Prostatic Intraepithelial Neoplasia' SubClassOf 'urogenital neoplasm' 'Grade III Prostatic Intraepithelial Neoplasia' SubClassOf 'prostate disease' 'Grade III Prostatic Intraepithelial Neoplasia' SubClassOf 'prostate intraepithelial neoplasia' 'Grade III Prostatic Intraepithelial Neoplasia' SubClassOf 'prostate carcinoma' 'Grade III Prostatic Intraepithelial Neoplasia' SubClassOf 'has_disease_location' some ('prostate gland' or ('part_of' some 'prostate gland')) http://www.ebi.ac.uk/efo/EFO_1000280 Gastrointestinal Hamartoma 'Gastrointestinal Hamartoma' SubClassOf 'polyp' 'Gastrointestinal Hamartoma' SubClassOf 'digestive system disease' 'Gastrointestinal Hamartoma' SubClassOf 'hamartoma' 'Gastrointestinal Hamartoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024292 'Gastrointestinal Hamartoma' SubClassOf 'polyp' 'Gastrointestinal Hamartoma' SubClassOf 'has_disease_location' some ('gastrointestinal system' or ('part_of' some 'gastrointestinal system')) http://www.ebi.ac.uk/efo/EFO_1000281 Giant Cell Tumor of Soft Tissue 'Giant Cell Tumor of Soft Tissue' SubClassOf 'sarcoma' 'Giant Cell Tumor of Soft Tissue' SubClassOf 'sarcoma' 'Giant Cell Tumor of Soft Tissue' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002402 http://purl.obolibrary.org/obo/UBERON_0002416 integumental system 'skeletal system' DisjointWith 'integumental system' http://purl.obolibrary.org/obo/UBERON_0002330 DisjointWith 'integumental system' 'endocrine system' DisjointWith 'integumental system' 'gustatory system' DisjointWith 'integumental system' 'biliary system' DisjointWith 'integumental system' 'respiratory system' DisjointWith 'integumental system' 'renal system' DisjointWith 'integumental system' http://purl.obolibrary.org/obo/UBERON_0002204 DisjointWith 'integumental system' 'hematopoietic system' DisjointWith 'integumental system' 'immune system' DisjointWith 'integumental system' 'integumental system' DisjointWith http://purl.obolibrary.org/obo/UBERON_0004456 'reproductive system' DisjointWith 'integumental system' 'integumental system' DisjointWith 'hepatobiliary system' 'digestive system' DisjointWith 'integumental system' 'circulatory system' DisjointWith 'integumental system' 'nervous system' DisjointWith 'integumental system' http://www.orpha.net/ORDO/Orphanet_309111 Combined pancreatic lipase-colipase deficiency 'Combined pancreatic lipase-colipase deficiency' SubClassOf 'Disorder of lipid absorption and transport' 'Combined pancreatic lipase-colipase deficiency' SubClassOf 'Pancreatic triacylglycerol lipase deficiency' http://www.orpha.net/ORDO/Orphanet_83420 Proximal spinal muscular atrophy type 4 'Proximal spinal muscular atrophy type 4' SubClassOf 'Proximal spinal muscular atrophy' 'Proximal spinal muscular atrophy type 4' SubClassOf http://purl.obolibrary.org/obo/MONDO_0009669 'Proximal spinal muscular atrophy type 4' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_397725 COASY protein-associated neurodegeneration 'COASY protein-associated neurodegeneration' SubClassOf 'Neurodegeneration with brain iron accumulation' 'COASY protein-associated neurodegeneration' SubClassOf 'Neurodegeneration with brain iron accumulation' http://www.ebi.ac.uk/efo/EFO_1000288 Head and Neck Paraganglioma 'Head and Neck Paraganglioma' SubClassOf 'head and neck neoplasia' 'Head and Neck Paraganglioma' SubClassOf 'head and neck neoplasia' 'Head and Neck Paraganglioma' SubClassOf 'has_disease_location' some ('neck' or ('part_of' some 'neck')) 'Head and Neck Paraganglioma' SubClassOf 'has_disease_location' some ('head' or ('part_of' some 'head')) 'Head and Neck Paraganglioma' SubClassOf 'Paraganglioma' http://www.ebi.ac.uk/efo/EFO_1000289 Hemangiopericytic Neoplasm 'Hemangiopericytic Neoplasm' SubClassOf 'neoplasm' 'Hemangiopericytic Neoplasm' SubClassOf 'neoplasm' 'Hemangiopericytic Neoplasm' SubClassOf 'has_disease_location' some ('vasculature' or ('part_of' some 'vasculature')) 'Hemangiopericytic Neoplasm' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002604 http://www.ebi.ac.uk/efo/EFO_1000286 Granulocytic Sarcoma 'Granulocytic Sarcoma' SubClassOf 'sarcoma' 'Granulocytic Sarcoma' SubClassOf 'myeloid neoplasm' 'Granulocytic Sarcoma' SubClassOf 'sarcoma' 'Granulocytic Sarcoma' SubClassOf 'myeloid sarcoma' 'Granulocytic Sarcoma' SubClassOf 'myeloid neoplasm' http://www.ebi.ac.uk/efo/EFO_1000287 Growth Hormone-Producing Pituitary Gland Adenoma 'Growth Hormone-Producing Pituitary Gland Adenoma' SubClassOf 'brain neoplasm' 'Growth Hormone-Producing Pituitary Gland Adenoma' SubClassOf 'endocrine neoplasm' 'Growth Hormone-Producing Pituitary Gland Adenoma' SubClassOf 'adenoma' 'Growth Hormone-Producing Pituitary Gland Adenoma' SubClassOf 'endocrine neoplasm' 'Growth Hormone-Producing Pituitary Gland Adenoma' SubClassOf 'has_disease_location' some ('pituitary gland' or ('part_of' some 'pituitary gland')) 'Growth Hormone-Producing Pituitary Gland Adenoma' SubClassOf 'adenoma' 'Growth Hormone-Producing Pituitary Gland Adenoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019927 'Growth Hormone-Producing Pituitary Gland Adenoma' SubClassOf 'Pituitary Gland Adenoma' http://www.ebi.ac.uk/efo/EFO_1000284 Granular Cell Tumor 'Granular Cell Tumor' SubClassOf 'adenocarcinoma' 'Granular Cell Tumor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021089 'Granular Cell Tumor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002547 'Granular Cell Tumor' SubClassOf 'adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_1000285 Granular Cell Tumor of the Neurohypophysis 'Granular Cell Tumor of the Neurohypophysis' SubClassOf 'adenocarcinoma' 'Granular Cell Tumor of the Neurohypophysis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003197 'Granular Cell Tumor of the Neurohypophysis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003252 'Granular Cell Tumor of the Neurohypophysis' SubClassOf 'Granular Cell Tumor' 'Granular Cell Tumor of the Neurohypophysis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003257 'Granular Cell Tumor of the Neurohypophysis' SubClassOf 'adenocarcinoma' 'Granular Cell Tumor of the Neurohypophysis' SubClassOf 'central nervous system cancer' http://www.orpha.net/ORDO/Orphanet_83419 Proximal spinal muscular atrophy type 3 'Proximal spinal muscular atrophy type 3' SubClassOf 'Proximal spinal muscular atrophy' 'Proximal spinal muscular atrophy type 3' SubClassOf 'Genetic neurodegenerative disease' 'Proximal spinal muscular atrophy type 3' SubClassOf http://purl.obolibrary.org/obo/MONDO_0009669 http://www.ebi.ac.uk/efo/EFO_0001728 array manufacturer 'array manufacturer' SubClassOf 'inheres_in' some ('Homo sapiens' and 'organization') http://www.orpha.net/ORDO/Orphanet_397735 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation 'Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation' SubClassOf 'Autosomal dominant Charcot-Marie-Tooth disease type 2' 'Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation' SubClassOf 'Autosomal dominant Charcot-Marie-Tooth disease type 2' http://www.ebi.ac.uk/efo/EFO_0001729 biomaterial provider 'biomaterial provider' SubClassOf 'inheres_in' some ('Homo sapiens' and 'organization') http://purl.obolibrary.org/obo/UBERON_0002412 vertebra 'vertebra' SubClassOf 'develops_from' some 'skeleton' 'vertebra' SubClassOf http://purl.obolibrary.org/obo/UBERON_0008001 'vertebra' SubClassOf 'part_of' some 'skeletal system' 'vertebra' SubClassOf 'develops_from' some 'presomitic mesoderm' 'vertebra' SubClassOf http://purl.obolibrary.org/obo/UBERON_0002513 http://www.orpha.net/ORDO/Orphanet_83418 Proximal spinal muscular atrophy type 2 'Proximal spinal muscular atrophy type 2' SubClassOf 'Proximal spinal muscular atrophy' 'Proximal spinal muscular atrophy type 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0009669 'Proximal spinal muscular atrophy type 2' SubClassOf 'Genetic neurodegenerative disease' http://www.ebi.ac.uk/efo/EFO_1000293 Hepatoid Adenocarcinoma 'Hepatoid Adenocarcinoma' SubClassOf 'adenocarcinoma' 'Hepatoid Adenocarcinoma' SubClassOf 'liver neoplasm' 'Hepatoid Adenocarcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018532 'Hepatoid Adenocarcinoma' SubClassOf 'has_disease_location' some ('liver' or ('part_of' some 'liver')) 'Hepatoid Adenocarcinoma' SubClassOf 'has_disease_location' some 'hepatocyte' 'Hepatoid Adenocarcinoma' SubClassOf 'adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_1000294 HER2 Positive Breast Carcinoma 'HER2 Positive Breast Carcinoma' SubClassOf 'breast carcinoma' 'HER2 Positive Breast Carcinoma' SubClassOf 'has_disease_location' some ('breast' or ('part_of' some 'breast')) 'HER2 Positive Breast Carcinoma' SubClassOf 'breast carcinoma' 'HER2 Positive Breast Carcinoma' SubClassOf 'Breast Carcinoma by Gene Expression Profile' http://www.orpha.net/ORDO/Orphanet_309120 Acyl-CoA dehydrogenase deficiency 'Acyl-CoA dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017713 http://www.ebi.ac.uk/efo/EFO_1000291 Hepatic Granuloma 'Hepatic Granuloma' SubClassOf 'neoplasm' 'Hepatic Granuloma' SubClassOf 'has_disease_location' some ('liver' or ('part_of' some 'liver')) http://www.ebi.ac.uk/efo/EFO_1000292 Hepatoblastoma 'Hepatoblastoma' SubClassOf 'embryonal neoplasm' 'Hepatoblastoma' SubClassOf 'liver neoplasm' 'Hepatoblastoma' SubClassOf 'embryonal neoplasm' 'Hepatoblastoma' SubClassOf 'hepatocellular carcinoma' 'Hepatoblastoma' SubClassOf 'has_disease_location' some ('liver' or ('part_of' some 'liver')) http://www.ebi.ac.uk/efo/EFO_1000290 obsolete_hemopoietic system 'obsolete_hemopoietic system' SubClassOf 'obsolete class' 'obsolete_hemopoietic system' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_69126 Pyogenic arthritis - pyoderma gangrenosum - acne 'Pyogenic arthritis - pyoderma gangrenosum - acne' SubClassOf 'Unclassified genetic skin disorder' 'Pyogenic arthritis - pyoderma gangrenosum - acne' SubClassOf 'Autoinflammatory syndrome with immune deficiency' 'Pyogenic arthritis - pyoderma gangrenosum - acne' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017370 'Pyogenic arthritis - pyoderma gangrenosum - acne' SubClassOf 'Unclassified genetic skin disorder' 'Pyogenic arthritis - pyoderma gangrenosum - acne' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017954 'Pyogenic arthritis - pyoderma gangrenosum - acne' SubClassOf 'Autoinflammatory syndrome with immune deficiency' http://purl.obolibrary.org/obo/UBERON_0002428 limb bone 'limb bone' SubClassOf 'part_of' some 'appendicular skeleton' 'limb bone' SubClassOf 'part_of' some 'limb' 'limb bone' SubClassOf http://purl.obolibrary.org/obo/UBERON_0004375 'limb bone' SubClassOf 'develops_from' some 'appendicular skeleton' 'limb bone' SubClassOf 'develops_from' some 'mesoderm' 'limb bone' SubClassOf http://purl.obolibrary.org/obo/UBERON_0002513 http://www.orpha.net/ORDO/Orphanet_69125 Anonychia with flexural pigmentation 'Anonychia with flexural pigmentation' SubClassOf 'Ectodermal dysplasia syndrome' 'Anonychia with flexural pigmentation' SubClassOf 'Syndromic nail anomaly' 'Anonychia with flexural pigmentation' SubClassOf 'Ectodermal dysplasia syndrome' 'Anonychia with flexural pigmentation' SubClassOf 'Syndromic nail anomaly' http://www.ebi.ac.uk/efo/EFO_1000299 Hyperplastic Polyp 'Hyperplastic Polyp' SubClassOf 'polyp' 'Hyperplastic Polyp' SubClassOf 'has_disease_location' some ('colon' or ('part_of' some 'colon')) 'Hyperplastic Polyp' SubClassOf 'has_disease_location' some ('stomach' or ('part_of' some 'stomach')) 'Hyperplastic Polyp' SubClassOf 'polyp' http://purl.obolibrary.org/obo/GO_0070527 platelet aggregation 'platelet aggregation' SubClassOf 'is_about' some 'platelet' http://www.ebi.ac.uk/efo/EFO_1000297 Histiocytic and Dendritic Cell Neoplasm 'Histiocytic and Dendritic Cell Neoplasm' SubClassOf 'neoplasm' 'Histiocytic and Dendritic Cell Neoplasm' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015757 'Histiocytic and Dendritic Cell Neoplasm' SubClassOf 'has_disease_location' some ('blood' or ('part_of' some 'blood')) 'Histiocytic and Dendritic Cell Neoplasm' SubClassOf 'has_disease_location' some 'lympoid tissue' 'Histiocytic and Dendritic Cell Neoplasm' SubClassOf 'neoplasm' 'Histiocytic and Dendritic Cell Neoplasm' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044881 http://www.ebi.ac.uk/efo/EFO_1000298 Hydatidiform Mole 'Hydatidiform Mole' SubClassOf 'reproductive system disease' 'Hydatidiform Mole' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021218 'Hydatidiform Mole' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016784 'Hydatidiform Mole' SubClassOf 'reproductive system disease' http://www.ebi.ac.uk/efo/EFO_1000295 Hidradenocarcinoma 'Hidradenocarcinoma' SubClassOf 'clear cell adenocarcinoma' 'Hidradenocarcinoma' SubClassOf 'sweat gland carcinoma' 'Hidradenocarcinoma' SubClassOf 'clear cell adenocarcinoma' 'Hidradenocarcinoma' SubClassOf 'sweat gland carcinoma' 'Hidradenocarcinoma' SubClassOf 'has_disease_location' some ('sweat gland' or ('part_of' some 'sweat gland')) http://www.ebi.ac.uk/efo/EFO_1000296 High Grade Surface Osteosarcoma 'High Grade Surface Osteosarcoma' SubClassOf 'osteosarcoma' 'High Grade Surface Osteosarcoma' SubClassOf 'has_disease_location' some ('bone' or ('part_of' some 'bone')) 'High Grade Surface Osteosarcoma' SubClassOf 'osteosarcoma' 'High Grade Surface Osteosarcoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002628 http://www.orpha.net/ORDO/Orphanet_397744 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome 'Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome' SubClassOf 'Syndromic genetic deafness' 'Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome' SubClassOf 'Autosomal dominant distal hereditary motor neuropathy' 'Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome' SubClassOf 'Autosomal dominant distal myopathy' 'Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome' SubClassOf 'Syndromic genetic deafness' 'Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome' SubClassOf 'Autosomal dominant distal hereditary motor neuropathy' 'Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome' SubClassOf 'Autosomal dominant distal myopathy' http://purl.obolibrary.org/obo/UBERON_0002421 hippocampal formation 'hippocampal formation' SubClassOf 'part_of' some 'cerebral cortex' http://purl.obolibrary.org/obo/UBERON_0002423 hepatobiliary system 'endocrine system' DisjointWith 'hepatobiliary system' 'respiratory system' DisjointWith 'hepatobiliary system' http://purl.obolibrary.org/obo/UBERON_0002204 DisjointWith 'hepatobiliary system' 'nervous system' DisjointWith 'hepatobiliary system' http://purl.obolibrary.org/obo/UBERON_0002330 DisjointWith 'hepatobiliary system' 'biliary system' DisjointWith 'hepatobiliary system' 'hepatobiliary system' SubClassOf 'part_of' some 'digestive system' 'gustatory system' DisjointWith 'hepatobiliary system' 'reproductive system' DisjointWith 'hepatobiliary system' 'hepatobiliary system' DisjointWith http://purl.obolibrary.org/obo/UBERON_0004456 'hematopoietic system' DisjointWith 'hepatobiliary system' 'immune system' DisjointWith 'hepatobiliary system' 'skeletal system' DisjointWith 'hepatobiliary system' 'renal system' DisjointWith 'hepatobiliary system' 'integumental system' DisjointWith 'hepatobiliary system' 'digestive system' DisjointWith 'hepatobiliary system' 'circulatory system' DisjointWith 'hepatobiliary system' http://www.orpha.net/ORDO/Orphanet_309127 3-hydroxyacyl-CoA dehydrogenase deficiency '3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017713 http://purl.obolibrary.org/obo/UBERON_0002420 basal ganglion 'basal ganglion' SubClassOf 'part_of' some 'telencephalon' 'ganglion' DisjointWith 'basal ganglion' http://purl.obolibrary.org/obo/CLO_0014388 GM17259 'GM17259' SubClassOf 'cultured cell' 'GM17259' SubClassOf 'has_quality' some 'male' 'GM17259' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/CLO_0014389 GM17253 'GM17253' SubClassOf 'has_quality' some 'male' 'GM17253' SubClassOf 'cultured cell' 'GM17253' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0001740 software manufacturer 'software manufacturer' SubClassOf 'inheres_in' some ('Homo sapiens' and 'organization') http://www.ebi.ac.uk/efo/EFO_0000410 disease staging 'disease staging' DisjointWith 'uninfected' 'normal' DisjointWith 'disease staging' 'disease staging' DisjointWith 'control' http://www.ebi.ac.uk/efo/EFO_0000411 obsolete_disease state 'obsolete_disease state' SubClassOf 'obsolete class' 'obsolete_disease state' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001741 submitter 'submitter' SubClassOf 'inheres_in' some ('Homo sapiens' and 'organization') http://www.orpha.net/ORDO/Orphanet_251262 Familial osteochondritis dissecans 'Familial osteochondritis dissecans' SubClassOf 'Osteonecrosis of genetic origin' 'Familial osteochondritis dissecans' SubClassOf 'Aggrecan-related bone disorder' 'Familial osteochondritis dissecans' SubClassOf 'Osteonecrosis of genetic origin' 'Familial osteochondritis dissecans' SubClassOf 'Aggrecan-related bone disorder' http://www.ebi.ac.uk/efo/EFO_0000414 obsolete_ectoderm 'obsolete_ectoderm' SubClassOf 'obsolete class' 'obsolete_ectoderm' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/UBERON_0001184 renal artery 'renal artery' SubClassOf 'artery' 'renal artery' SubClassOf http://purl.obolibrary.org/obo/UBERON_0012254 http://www.ebi.ac.uk/efo/EFO_0000417 obsolete_dorsal epidermis primordium 'obsolete_dorsal epidermis primordium' SubClassOf 'obsolete class' 'obsolete_dorsal epidermis primordium' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000418 obsolete_dorsal histoblast nest abdominal 'obsolete_dorsal histoblast nest abdominal' SubClassOf 'obsolete class' 'obsolete_dorsal histoblast nest abdominal' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/HP_0004401 Meconium ileus 'Meconium ileus' SubClassOf 'gastrointestinal obstruction' 'Meconium ileus' SubClassOf 'gastrointestinal obstruction' http://www.ebi.ac.uk/efo/EFO_0000419 obsolete_dorsal imaginal precursor 'obsolete_dorsal imaginal precursor' SubClassOf 'obsolete class' 'obsolete_dorsal imaginal precursor' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_94145 Autosomal dominant cerebellar ataxia type 1 'Autosomal dominant cerebellar ataxia type 1' SubClassOf 'Autosomal dominant cerebellar ataxia' 'Autosomal dominant cerebellar ataxia type 1' SubClassOf 'Autosomal dominant cerebellar ataxia' http://www.orpha.net/ORDO/Orphanet_264580 Glycogen storage disease due to liver phosphorylase kinase deficiency 'Glycogen storage disease due to liver phosphorylase kinase deficiency' SubClassOf 'Glycogen storage disease due to phosphorylase kinase deficiency' 'Glycogen storage disease due to liver phosphorylase kinase deficiency' SubClassOf 'Glycogen storage disease due to phosphorylase kinase deficiency' 'Glycogen storage disease due to liver phosphorylase kinase deficiency' SubClassOf 'liver disease' 'Glycogen storage disease due to liver phosphorylase kinase deficiency' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://www.orpha.net/ORDO/Orphanet_251274 Familial hyperaldosteronism type III 'Familial hyperaldosteronism type III' SubClassOf 'Familial hyperaldosteronism' 'Familial hyperaldosteronism type III' SubClassOf 'Familial hyperaldosteronism' http://www.orpha.net/ORDO/Orphanet_83472 CAMOS syndrome 'CAMOS syndrome' SubClassOf 'Autosomal recessive congenital cerebellar ataxia' 'CAMOS syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018609 'CAMOS syndrome' SubClassOf 'Autosomal recessive congenital cerebellar ataxia' http://www.orpha.net/ORDO/Orphanet_226298 Central congenital hypothyroidism 'Central congenital hypothyroidism' SubClassOf 'Permanent congenital hypothyroidism' 'Central congenital hypothyroidism' SubClassOf 'Permanent congenital hypothyroidism' http://www.orpha.net/ORDO/Orphanet_83471 Thymic aplasia 'Thymic aplasia' SubClassOf 'Immunodeficiency due to absence of thymus' 'Thymic aplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001222 'Thymic aplasia' SubClassOf 'Immunodeficiency due to absence of thymus' http://www.orpha.net/ORDO/Orphanet_251279 Microphthalmia - retinitis pigmentosa - foveoschisis - optic disc drusen 'Microphthalmia - retinitis pigmentosa - foveoschisis - optic disc drusen' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000062 http://www.orpha.net/ORDO/Orphanet_276556 Hyperinsulinism due to UCP2 deficiency 'Hyperinsulinism due to UCP2 deficiency' SubClassOf 'Diazoxide-sensitive diffuse hyperinsulinism' 'Hyperinsulinism due to UCP2 deficiency' SubClassOf 'Diazoxide-sensitive diffuse hyperinsulinism' http://www.orpha.net/ORDO/Orphanet_94149 Autosomal dominant cerebellar ataxia type 4 'Autosomal dominant cerebellar ataxia type 4' SubClassOf 'Autosomal dominant cerebellar ataxia' 'Autosomal dominant cerebellar ataxia type 4' SubClassOf 'Autosomal dominant cerebellar ataxia' http://www.orpha.net/ORDO/Orphanet_83473 Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus 'Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus' SubClassOf 'Genetic syndrome with a central nervous system malformation as major feature' 'Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017120 'Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus' SubClassOf 'Congenital hydrocephalus' 'Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus' SubClassOf 'Polydactyly' http://www.orpha.net/ORDO/Orphanet_94148 Autosomal dominant cerebellar ataxia type 3 'Autosomal dominant cerebellar ataxia type 3' SubClassOf 'Autosomal dominant cerebellar ataxia' 'Autosomal dominant cerebellar ataxia type 3' SubClassOf 'Autosomal dominant cerebellar ataxia' http://www.orpha.net/ORDO/Orphanet_94147 Spinocerebellar ataxia type 7 'Spinocerebellar ataxia type 7' SubClassOf 'Autosomal dominant cerebellar ataxia type 2' 'Spinocerebellar ataxia type 7' SubClassOf 'Autosomal dominant cerebellar ataxia type 2' http://purl.obolibrary.org/obo/CLO_0014391 GM17251 'GM17251' SubClassOf 'has_quality' some 'female' 'GM17251' SubClassOf 'cultured cell' 'GM17251' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/CLO_0014392 GM17252 'GM17252' SubClassOf 'cultured cell' 'GM17252' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17252' SubClassOf 'has_quality' some 'female' http://purl.obolibrary.org/obo/CLO_0014393 GM17257 'GM17257' SubClassOf 'cultured cell' 'GM17257' SubClassOf 'has_quality' some 'female' 'GM17257' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/CLO_0014394 GM17258 'GM17258' SubClassOf 'cultured cell' 'GM17258' SubClassOf 'has_quality' some 'female' 'GM17258' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/CLO_0014395 GM17255 'GM17255' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17255' SubClassOf 'cultured cell' 'GM17255' SubClassOf 'has_quality' some 'male' http://www.ebi.ac.uk/efo/EFO_0001731 consortium member 'consortium member' SubClassOf 'inheres_in' some ('Homo sapiens' and 'organization') http://purl.obolibrary.org/obo/CLO_0014396 GM17256 'GM17256' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17256' SubClassOf 'cultured cell' 'GM17256' SubClassOf 'has_quality' some 'female' http://www.ebi.ac.uk/efo/EFO_0000400 diabetes mellitus 'diabetes mellitus' SubClassOf 'metabolic disease' 'diabetes mellitus' SubClassOf 'glucose metabolism disease' 'diabetes mellitus' SubClassOf 'realized_in' some ('disease course' and ('has part' some 'metabolic process')) 'diabetes mellitus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001933 http://www.ebi.ac.uk/efo/EFO_0001730 biosequence provider 'biosequence provider' SubClassOf 'inheres_in' some ('Homo sapiens' and 'organization') http://purl.obolibrary.org/obo/CLO_0014397 GM17250 'GM17250' SubClassOf 'has_quality' some 'female' 'GM17250' SubClassOf 'cultured cell' 'GM17250' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0000401 diabetic nephropathy 'diabetic nephropathy' SubClassOf 'kidney disease' 'diabetic nephropathy' SubClassOf 'metabolic disease' 'diabetic nephropathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024297 'diabetic nephropathy' SubClassOf 'metabolic disease' 'diabetic nephropathy' SubClassOf http://purl.obolibrary.org/obo/RO_0004022 some 'diabetes mellitus' 'diabetic nephropathy' SubClassOf 'chronic kidney disease' 'diabetic nephropathy' SubClassOf 'has_disease_location' some 'kidney' http://www.ebi.ac.uk/efo/EFO_0001733 curator 'curator' SubClassOf 'inheres_in' some 'Homo sapiens' 'curator' SubClassOf 'inheres_in' some 'organization' http://www.ebi.ac.uk/efo/EFO_0000402 diffuse gastric adenocarcinoma 'diffuse gastric adenocarcinoma' SubClassOf 'stomach neoplasm' 'diffuse gastric adenocarcinoma' SubClassOf 'adenocarcinoma' 'diffuse gastric adenocarcinoma' SubClassOf 'disease has feature' some http://purl.obolibrary.org/obo/MONDO_0002839 'diffuse gastric adenocarcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021652 'diffuse gastric adenocarcinoma' SubClassOf 'gastric adenocarcinoma' 'diffuse gastric adenocarcinoma' SubClassOf 'has_disease_location' some 'stomach' http://www.ebi.ac.uk/efo/EFO_0001732 consultant 'consultant' SubClassOf 'inheres_in' some 'organization' 'consultant' SubClassOf 'inheres_in' some 'Homo sapiens' http://www.ebi.ac.uk/efo/EFO_0000403 diffuse large B-cell lymphoma 'diffuse large B-cell lymphoma' SubClassOf 'lymphoma' 'diffuse large B-cell lymphoma' SubClassOf 'neoplasm of mature B-cells' 'diffuse large B-cell lymphoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017595 'diffuse large B-cell lymphoma' SubClassOf 'neoplasm of mature B-cells' http://www.ebi.ac.uk/efo/EFO_0001735 data coder 'data coder' SubClassOf 'inheres_in' some ('Homo sapiens' and 'organization') http://www.ebi.ac.uk/efo/EFO_0000404 diffuse scleroderma 'diffuse scleroderma' SubClassOf 'skin disease' 'diffuse scleroderma' SubClassOf 'immune system disease' 'diffuse scleroderma' SubClassOf 'has_disease_location' some 'zone of skin' 'diffuse scleroderma' SubClassOf 'systemic scleroderma' http://www.ebi.ac.uk/efo/EFO_0001734 data analyst 'data analyst' SubClassOf 'inheres_in' some ('Homo sapiens' and 'organization') http://www.orpha.net/ORDO/Orphanet_71493 Familial thrombocytosis 'Familial thrombocytosis' SubClassOf 'Rare thrombotic disorder due to a constitutional platelet anomaly' 'Familial thrombocytosis' SubClassOf 'Rare thrombotic disorder due to a constitutional platelet anomaly' 'Familial thrombocytosis' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0002249 and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) 'Familial thrombocytosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002249 http://www.ebi.ac.uk/efo/EFO_0000405 digestive system disease 'digestive system disease' SubClassOf 'disease' 'digestive system disease' EquivalentTo 'has_disease_location' some ('digestive system' or ('part_of' some 'digestive system')) 'digestive system disease' DisjointWith 'uninfected' 'digestive system disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021199 http://www.ebi.ac.uk/efo/EFO_0001737 hardware manufacturer 'hardware manufacturer' SubClassOf 'inheres_in' some ('Homo sapiens' and 'organization') http://www.ebi.ac.uk/efo/EFO_0001736 funder 'funder' SubClassOf 'inheres_in' some ('Homo sapiens' and 'organization') http://www.ebi.ac.uk/efo/EFO_0000407 dilated cardiomyopathy 'dilated cardiomyopathy' SubClassOf 'cardiomyopathy' 'dilated cardiomyopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000591 http://www.ebi.ac.uk/efo/EFO_0001739 investigator 'investigator' SubClassOf 'inheres_in' some ('Homo sapiens' and 'organization') http://www.ebi.ac.uk/efo/EFO_0000408 disease 'disease' DisjointWith 'control' 'disease' DisjointWith 'uninfected' 'normal' DisjointWith 'disease' http://www.ebi.ac.uk/efo/EFO_0001738 institution 'institution' SubClassOf 'inheres_in' some 'organization' http://purl.obolibrary.org/obo/CHEBI_2038 5-azacytidine '5-azacytidine' SubClassOf 'has_role' some 'drug role' http://purl.obolibrary.org/obo/CLO_0014390 GM17254 'GM17254' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17254' SubClassOf 'cultured cell' 'GM17254' SubClassOf 'has_quality' some 'male' http://www.orpha.net/ORDO/Orphanet_95488 Non-acquired pituitary hormone deficiency 'Non-acquired pituitary hormone deficiency' SubClassOf 'Pituitary deficiency' 'Non-acquired pituitary hormone deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019590 'Non-acquired pituitary hormone deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015514 'Non-acquired pituitary hormone deficiency' SubClassOf 'Pituitary deficiency' http://www.orpha.net/ORDO/Orphanet_289899 Organic aciduria 'Organic aciduria' SubClassOf http://purl.obolibrary.org/obo/MONDO_0045022 http://www.orpha.net/ORDO/Orphanet_226292 Permanent congenital hypothyroidism 'Permanent congenital hypothyroidism' SubClassOf 'Congenital hypothyroidism' 'Permanent congenital hypothyroidism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015514 'Permanent congenital hypothyroidism' SubClassOf 'Congenital hypothyroidism' http://www.orpha.net/ORDO/Orphanet_226295 Primary congenital hypothyroidism 'Primary congenital hypothyroidism' SubClassOf 'Permanent congenital hypothyroidism' 'Primary congenital hypothyroidism' SubClassOf 'Permanent congenital hypothyroidism' http://www.orpha.net/ORDO/Orphanet_94150 Anonychia congenita totalis 'Anonychia congenita totalis' SubClassOf 'Congenital anonychia' 'Anonychia congenita totalis' SubClassOf 'Congenital anonychia' http://purl.obolibrary.org/obo/CLO_0014366 GM17222 'GM17222' SubClassOf 'cultured cell' 'GM17222' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17222' SubClassOf 'has_quality' some 'male' http://purl.obolibrary.org/obo/CLO_0014367 GM17223 'GM17223' SubClassOf 'cultured cell' 'GM17223' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17223' SubClassOf 'has_quality' some 'male' http://www.orpha.net/ORDO/Orphanet_83461 Congenital primary aphakia 'Congenital primary aphakia' SubClassOf 'Rare eye disease due to a differentiation anomaly' 'Congenital primary aphakia' SubClassOf 'Non-syndromic developmental defect of the eye' 'Congenital primary aphakia' SubClassOf 'Familial ocular anterior segment mesenchymal dysgenesis' 'Congenital primary aphakia' SubClassOf 'lens disease' http://purl.obolibrary.org/obo/CLO_0014369 GM17224 'GM17224' SubClassOf 'cultured cell' 'GM17224' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17224' SubClassOf 'has_quality' some 'female' http://www.ebi.ac.uk/efo/EFO_0000430 ductal adenocarcinoma 'ductal adenocarcinoma' SubClassOf 'adenocarcinoma' 'ductal adenocarcinoma' SubClassOf 'breast adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0000431 obsolete_ductal breast carcinoma 'obsolete_ductal breast carcinoma' SubClassOf 'obsolete class' 'obsolete_ductal breast carcinoma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/CLO_0014362 GM17229 'GM17229' SubClassOf 'has_quality' some 'female' 'GM17229' SubClassOf 'cultured cell' 'GM17229' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0000432 ductal carcinoma in situ 'ductal carcinoma in situ' SubClassOf 'breast carcinoma' 'ductal carcinoma in situ' SubClassOf 'ductal adenocarcinoma' 'ductal carcinoma in situ' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004007 'ductal carcinoma in situ' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004658 'ductal carcinoma in situ' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003218 http://www.ebi.ac.uk/efo/EFO_0001766 obsolete_ex vivo design 'obsolete_ex vivo design' SubClassOf 'obsolete class' 'obsolete_ex vivo design' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000436 obsolete_plant embryo 'obsolete_plant embryo' SubClassOf 'obsolete class' 'obsolete_plant embryo' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001768 obsolete_in vitro design 'obsolete_in vitro design' SubClassOf 'obsolete class' 'obsolete_in vitro design' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000437 embryonal rhabdomyosarcoma 'embryonal rhabdomyosarcoma' SubClassOf 'rhabdomyosarcoma' 'embryonal rhabdomyosarcoma' SubClassOf 'rhabdomyosarcoma' http://www.ebi.ac.uk/efo/EFO_0000438 obsolete_embryonic anal pad 'obsolete_embryonic anal pad' SubClassOf 'obsolete class' 'obsolete_embryonic anal pad' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_95494 Combined pituitary hormone deficiencies, genetic forms 'Combined pituitary hormone deficiencies, genetic forms' SubClassOf 'Non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations' 'Combined pituitary hormone deficiencies, genetic forms' SubClassOf 'Hypogonadotropic hypogonadism associated with other endocrinopathies' 'Combined pituitary hormone deficiencies, genetic forms' SubClassOf 'Non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations' 'Combined pituitary hormone deficiencies, genetic forms' SubClassOf 'hypopituitarism' 'Combined pituitary hormone deficiencies, genetic forms' SubClassOf 'Hypogonadotropic hypogonadism associated with other endocrinopathies' 'Combined pituitary hormone deficiencies, genetic forms' EquivalentTo 'hypopituitarism' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) 'Combined pituitary hormone deficiencies, genetic forms' SubClassOf 'Rare genetic neurological disorder' http://www.ebi.ac.uk/efo/EFO_0000439 obsolete_embryonic antennal sense organ 'obsolete_embryonic antennal sense organ' SubClassOf 'obsolete class' 'obsolete_embryonic antennal sense organ' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001769 obsolete_in vivo design 'obsolete_in vivo design' SubClassOf 'obsolete class' 'obsolete_in vivo design' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_95495 Disease associated with non-acquired combined pituitary hormone deficiency 'Disease associated with non-acquired combined pituitary hormone deficiency' SubClassOf 'Non-acquired combined pituitary hormone deficiency' 'Disease associated with non-acquired combined pituitary hormone deficiency' SubClassOf 'Non-acquired combined pituitary hormone deficiency' http://www.orpha.net/ORDO/Orphanet_95496 Pituitary stalk interruption syndrome 'Pituitary stalk interruption syndrome' SubClassOf 'Non-acquired pituitary hormone deficiency' 'Pituitary stalk interruption syndrome' SubClassOf 'Non-acquired pituitary hormone deficiency' 'Pituitary stalk interruption syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 http://purl.obolibrary.org/obo/CLO_0014377 GM17221 'GM17221' SubClassOf 'cultured cell' 'GM17221' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17221' SubClassOf 'has_quality' some 'female' http://www.orpha.net/ORDO/Orphanet_83454 Glomuvenous malformation 'Glomuvenous malformation' SubClassOf 'Genetic neurovascular malformation' 'Glomuvenous malformation' SubClassOf 'Genetic central nervous system and retinal vascular disease' 'Glomuvenous malformation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018730 'Glomuvenous malformation' SubClassOf 'Genetic neurovascular malformation' http://www.ebi.ac.uk/efo/EFO_1001501 pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 'pulmonary fibrosis and/or bone marrow failure, telomere-related, 1' SubClassOf 'Chromosomal anomaly' 'pulmonary fibrosis and/or bone marrow failure, telomere-related, 1' SubClassOf 'Chromosomal anomaly' 'pulmonary fibrosis and/or bone marrow failure, telomere-related, 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000148 'pulmonary fibrosis and/or bone marrow failure, telomere-related, 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0009332 'pulmonary fibrosis and/or bone marrow failure, telomere-related, 1' SubClassOf 'idiopathic pulmonary fibrosis' http://www.ebi.ac.uk/efo/EFO_1001500 mental retardation with language impairment 'mental retardation with language impairment' SubClassOf 'mental retardation' 'mental retardation with language impairment' SubClassOf 'mental retardation' http://purl.obolibrary.org/obo/CLO_0014371 GM17225 'GM17225' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17225' SubClassOf 'cultured cell' 'GM17225' SubClassOf 'has_quality' some 'male' http://www.ebi.ac.uk/efo/EFO_0000420 obsolete_dorsal mesothoracic disc 'obsolete_dorsal mesothoracic disc' SubClassOf 'obsolete class' 'obsolete_dorsal mesothoracic disc' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000421 obsolete_dorsal metathoracic disc 'obsolete_dorsal metathoracic disc' SubClassOf 'obsolete class' 'obsolete_dorsal metathoracic disc' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000422 obsolete_dorsal pharyngeal muscle primordium 'obsolete_dorsal pharyngeal muscle primordium' SubClassOf 'obsolete class' 'obsolete_dorsal pharyngeal muscle primordium' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/CLO_0014375 GM17220 'GM17220' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17220' SubClassOf 'has_quality' some 'male' 'GM17220' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0000424 obsolete_dorsal ridge 'obsolete_dorsal ridge' SubClassOf 'obsolete class' 'obsolete_dorsal ridge' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000426 obsolete_dorsal trunk specific anlage 'obsolete_dorsal trunk specific anlage' SubClassOf 'obsolete class' 'obsolete_dorsal trunk specific anlage' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000427 obsolete_dorsomedial neurosecretory cell 'obsolete_dorsomedial neurosecretory cell' SubClassOf 'obsolete class' 'obsolete_dorsomedial neurosecretory cell' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/CHEBI_3387 carbamazepine 'carbamazepine' SubClassOf 'has_role' some 'anticonvulsant' http://www.ebi.ac.uk/efo/EFO_1001506 primary angle closure glaucoma 'primary angle closure glaucoma' SubClassOf 'glaucoma' 'primary angle closure glaucoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001744 http://www.ebi.ac.uk/efo/EFO_0000429 obsolete_Duchenne muscular dystrophy 'obsolete_Duchenne muscular dystrophy' SubClassOf 'obsolete class' 'obsolete_Duchenne muscular dystrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001503 type II diabetes mellitus with acanthosis nigricans 'type II diabetes mellitus with acanthosis nigricans' SubClassOf 'has_disease_location' some ('zone of skin' or ('part_of' some 'zone of skin')) http://www.ebi.ac.uk/efo/EFO_1001502 rasopathy 'rasopathy' SubClassOf 'genetic disorder' 'rasopathy' SubClassOf 'genetic disorder' 'rasopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044980 http://purl.obolibrary.org/obo/EO_0007068 ethylene treatment 'ethylene treatment' SubClassOf 'growth hormone treatment' 'ethylene treatment' SubClassOf 'growth hormone treatment' http://purl.obolibrary.org/obo/CLO_0026349 ND00259 'ND00259' SubClassOf 'cultured cell' 'ND00259' SubClassOf 'has_quality' some 'female' 'ND00259' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/CLO_0013097 GM17281 'GM17281' SubClassOf 'cultured cell' 'GM17281' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17281' SubClassOf 'has_quality' some 'male' http://purl.obolibrary.org/obo/CLO_0013096 GM17280 'GM17280' SubClassOf 'cultured cell' 'GM17280' SubClassOf 'has_quality' some 'male' 'GM17280' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/CLO_0013095 GM17283 'GM17283' SubClassOf 'cultured cell' 'GM17283' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17283' SubClassOf 'has_quality' some 'male' http://purl.obolibrary.org/obo/CLO_0013094 GM17282 'GM17282' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17282' SubClassOf 'cultured cell' 'GM17282' SubClassOf 'has_quality' some 'male' http://www.ebi.ac.uk/efo/EFO_0001782 obsolete_family history design 'obsolete_family history design' SubClassOf 'obsolete class' 'obsolete_family history design' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001512 endometrial carcinoma 'endometrial carcinoma' SubClassOf 'carcinoma' 'endometrial carcinoma' EquivalentTo 'carcinoma' and ('has_disease_location' some 'endometrium') 'endometrial carcinoma' SubClassOf 'uterine carcinoma' 'endometrial carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0011962 http://www.ebi.ac.uk/efo/EFO_0000451 obsolete_embryonic dorsal apodeme 'obsolete_embryonic dorsal apodeme' SubClassOf 'obsolete class' 'obsolete_embryonic dorsal apodeme' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001781 obsolete_disease state design 'obsolete_disease state design' SubClassOf 'obsolete class' 'obsolete_disease state design' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000452 obsolete_embryonic dorsal epidermis 'obsolete_embryonic dorsal epidermis' SubClassOf 'obsolete class' 'obsolete_embryonic dorsal epidermis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001510 specific language impairment 'specific language impairment' SubClassOf 'language impairment' 'specific language impairment' SubClassOf 'Rare genetic neurological disorder' 'specific language impairment' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004750 http://www.ebi.ac.uk/efo/EFO_0000453 obsolete_embryonic epipharynx 'obsolete_embryonic epipharynx' SubClassOf 'obsolete class' 'obsolete_embryonic epipharynx' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000454 obsolete_embryonic esophageal ganglion 'obsolete_embryonic esophageal ganglion' SubClassOf 'obsolete class' 'obsolete_embryonic esophageal ganglion' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000455 obsolete_embryonic esophagus 'obsolete_embryonic esophagus' SubClassOf 'obsolete class' 'obsolete_embryonic esophagus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_95428 COG8-CDG 'COG8-CDG' SubClassOf 'Defect in conserved oligomeric Golgi complex' 'COG8-CDG' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' 'COG8-CDG' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'COG8-CDG' SubClassOf 'Defect in conserved oligomeric Golgi complex' 'COG8-CDG' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' 'COG8-CDG' SubClassOf 'congenital disorder of glycosylation type II' 'COG8-CDG' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' http://www.ebi.ac.uk/efo/EFO_0000456 obsolete_embryonic foregut 'obsolete_embryonic foregut' SubClassOf 'obsolete class' 'obsolete_embryonic foregut' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_95429 Angioma serpiginosum 'Angioma serpiginosum' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019293 'Angioma serpiginosum' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Angioma serpiginosum' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016231 'Angioma serpiginosum' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003110 'Angioma serpiginosum' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002300 http://www.ebi.ac.uk/efo/EFO_0000457 obsolete_embryonic foregut sensory structure 'obsolete_embryonic foregut sensory structure' SubClassOf 'obsolete class' 'obsolete_embryonic foregut sensory structure' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000458 obsolete_embryonic frontal ganglion 'obsolete_embryonic frontal ganglion' SubClassOf 'obsolete class' 'obsolete_embryonic frontal ganglion' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_263297 Glycogen storage disease due to glycogenin deficiency 'Glycogen storage disease due to glycogenin deficiency' SubClassOf 'Glycogen storage disease' 'Glycogen storage disease due to glycogenin deficiency' SubClassOf 'Muscular glycogenosis' 'Glycogen storage disease due to glycogenin deficiency' SubClassOf 'Glycogen storage disease' 'Glycogen storage disease due to glycogenin deficiency' SubClassOf 'Muscular glycogenosis' http://www.ebi.ac.uk/efo/EFO_0000459 obsolete_embryonic ganglion mother cell 'obsolete_embryonic ganglion mother cell' SubClassOf 'obsolete class' 'obsolete_embryonic ganglion mother cell' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001518 heavy metal poisoning 'heavy metal poisoning' SubClassOf 'poisoning' 'heavy metal poisoning' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'heavy metal poisoning' SubClassOf 'poisoning' http://purl.obolibrary.org/obo/UBERON_0002471 zeugopod 'zeugopod' SubClassOf 'part_of' some 'limb' http://www.ebi.ac.uk/efo/EFO_1001517 renal fibrosis 'renal fibrosis' SubClassOf 'disease has feature' some http://purl.obolibrary.org/obo/MONDO_0000490 'renal fibrosis' EquivalentTo 'fibrosis' and ('has_disease_location' some 'kidney') 'renal fibrosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000490 http://www.ebi.ac.uk/efo/EFO_1001516 ovarian serous carcinoma 'ovarian serous carcinoma' SubClassOf 'has_disease_location' some 'female gonad' http://www.orpha.net/ORDO/Orphanet_95430 Congenital tracheomalacia 'Congenital tracheomalacia' SubClassOf 'Non-syndromic respiratory or mediastinal malformation' 'Congenital tracheomalacia' SubClassOf 'Tracheal anomaly' 'Congenital tracheomalacia' SubClassOf 'Genetic respiratory malformation' 'Congenital tracheomalacia' SubClassOf 'Non-syndromic respiratory or mediastinal malformation' 'Congenital tracheomalacia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002567 'Congenital tracheomalacia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018562 'Congenital tracheomalacia' SubClassOf 'Tracheal anomaly' http://www.ebi.ac.uk/efo/EFO_1001515 ovarian endometrioid carcinoma 'ovarian endometrioid carcinoma' SubClassOf 'has_disease_location' some 'female gonad' http://www.ebi.ac.uk/efo/EFO_1001514 endometrial endometrioid carcinoma 'endometrial endometrioid carcinoma' SubClassOf 'has_disease_location' some 'endometrium' http://purl.obolibrary.org/obo/OBI_0000415 PCR 'PCR' SubClassOf 'part_of' some 'nucleic acid library construction protocol' http://www.ebi.ac.uk/efo/EFO_1001513 liver neoplasm 'liver neoplasm' SubClassOf 'endocrine neoplasm' 'liver neoplasm' EquivalentTo 'neoplasm' and ('has_disease_location' some ('liver' or ('part_of' some 'liver'))) 'liver neoplasm' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002082 'liver neoplasm' SubClassOf 'Hepatobiliary Neoplasm' http://www.orpha.net/ORDO/Orphanet_95433 Autosomal recessive cerebellar ataxia - blindness - deafness 'Autosomal recessive cerebellar ataxia - blindness - deafness' SubClassOf 'Autosomal recessive syndromic cerebellar ataxia' 'Autosomal recessive cerebellar ataxia - blindness - deafness' SubClassOf 'Autosomal recessive syndromic cerebellar ataxia' http://purl.obolibrary.org/obo/CLO_0013092 GM17284 'GM17284' SubClassOf 'cultured cell' 'GM17284' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17284' SubClassOf 'has_quality' some 'female' http://www.orpha.net/ORDO/Orphanet_289846 Glutathione synthetase deficiency with 5-oxoprolinuria 'Glutathione synthetase deficiency with 5-oxoprolinuria' SubClassOf 'Glutathione synthetase deficiency' 'Glutathione synthetase deficiency with 5-oxoprolinuria' SubClassOf 'Glutathione synthetase deficiency' http://purl.obolibrary.org/obo/CLO_0013090 GM17285 'GM17285' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17285' SubClassOf 'cultured cell' 'GM17285' SubClassOf 'has_quality' some 'male' http://purl.obolibrary.org/obo/UBERON_0002472 stylopod 'stylopod' SubClassOf 'part_of' some 'limb' http://www.orpha.net/ORDO/Orphanet_289841 Disorder of glutamine metabolism 'Disorder of glutamine metabolism' SubClassOf 'Disorder of amino acid and other organic acid metabolism' 'Disorder of glutamine metabolism' SubClassOf 'Disorder of amino acid and other organic acid metabolism' http://www.orpha.net/ORDO/Orphanet_276598 Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency 'Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency' SubClassOf 'Diazoxide-resistant focal hyperinsulinism' 'Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0009734 'Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency' SubClassOf 'Diazoxide-resistant focal hyperinsulinism' http://www.orpha.net/ORDO/Orphanet_289849 Glutathione synthetase deficiency without 5-oxoprolinuria 'Glutathione synthetase deficiency without 5-oxoprolinuria' SubClassOf 'Glutathione synthetase deficiency' 'Glutathione synthetase deficiency without 5-oxoprolinuria' SubClassOf 'Glutathione synthetase deficiency' http://purl.obolibrary.org/obo/UBERON_0014454 visceral abdominal adipose tissue 'visceral abdominal adipose tissue' EquivalentTo 'adipose tissue' and ('part_of' some 'abdomen') and ('located_in' some 'abdominal cavity') 'visceral abdominal adipose tissue' SubClassOf 'part_of' some 'abdomen' 'visceral abdominal adipose tissue' SubClassOf 'located_in' some 'abdominal cavity' http://www.orpha.net/ORDO/Orphanet_95434 Autosomal recessive cerebellar ataxia - saccadic intrusion 'Autosomal recessive cerebellar ataxia - saccadic intrusion' SubClassOf 'Autosomal recessive syndromic cerebellar ataxia' 'Autosomal recessive cerebellar ataxia - saccadic intrusion' SubClassOf 'Autosomal recessive syndromic cerebellar ataxia' http://www.ebi.ac.uk/efo/EFO_0000440 obsolete_embryonic brain 'obsolete_embryonic brain' SubClassOf 'obsolete class' 'obsolete_embryonic brain' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/CHEBI_3319 calicheamicin gamma1(I) 'calicheamicin gamma1(I)' SubClassOf 'has_role' some 'antimicrobial agent' http://www.ebi.ac.uk/efo/EFO_0000441 obsolete_embryonic central brain 'obsolete_embryonic central brain' SubClassOf 'obsolete class' 'obsolete_embryonic central brain' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000442 obsolete_embryonic central brain glia 'obsolete_embryonic central brain glia' SubClassOf 'obsolete class' 'obsolete_embryonic central brain glia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000443 obsolete_embryonic central brain mushroom body 'obsolete_embryonic central brain mushroom body' SubClassOf 'obsolete class' 'obsolete_embryonic central brain mushroom body' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000444 obsolete_embryonic central brain neuron 'obsolete_embryonic central brain neuron' SubClassOf 'obsolete class' 'obsolete_embryonic central brain neuron' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000445 obsolete_embryonic central brain pars intercerebralis 'obsolete_embryonic central brain pars intercerebralis' SubClassOf 'obsolete class' 'obsolete_embryonic central brain pars intercerebralis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000446 obsolete_embryonic central brain surface glia 'obsolete_embryonic central brain surface glia' SubClassOf 'obsolete class' 'obsolete_embryonic central brain surface glia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/UBERON_0001156 ascending colon 'ascending colon' SubClassOf 'develops_from' some 'midgut' 'ascending colon' SubClassOf 'part_of' some 'colon' http://purl.obolibrary.org/obo/UBERON_0001157 transverse colon 'transverse colon' SubClassOf 'develops_from' some 'midgut' 'transverse colon' SubClassOf 'part_of' some 'colon' http://www.orpha.net/ORDO/Orphanet_289857 Neonatal glycine encephalopathy 'Neonatal glycine encephalopathy' SubClassOf 'Glycine encephalopathy' 'Neonatal glycine encephalopathy' SubClassOf 'Glycine encephalopathy' http://purl.obolibrary.org/obo/UBERON_0001158 descending colon 'descending colon' SubClassOf 'part_of' some 'colon' http://purl.obolibrary.org/obo/UBERON_0001159 sigmoid colon 'sigmoid colon' SubClassOf 'part_of' some 'colon' http://purl.obolibrary.org/obo/UBERON_0001153 caecum 'caecum' SubClassOf 'part_of' some 'colon' 'caecum' SubClassOf 'develops_from' some 'midgut' 'caecum' SubClassOf 'part_of' some 'large intestine' http://www.orpha.net/ORDO/Orphanet_290839 Autoinflammatory syndrome with immune deficiency 'Autoinflammatory syndrome with immune deficiency' SubClassOf 'Primary immunodeficiency due to a defect in innate immunity' 'Autoinflammatory syndrome with immune deficiency' SubClassOf 'disease has feature' some http://purl.obolibrary.org/obo/MONDO_0003778 'Autoinflammatory syndrome with immune deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019751 'Autoinflammatory syndrome with immune deficiency' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0019751 and ('disease has feature' some http://purl.obolibrary.org/obo/MONDO_0003778) 'Autoinflammatory syndrome with immune deficiency' SubClassOf 'Primary immunodeficiency due to a defect in innate immunity' http://purl.obolibrary.org/obo/UBERON_0001154 vermiform appendix 'vermiform appendix' SubClassOf 'part_of' some 'large intestine' 'vermiform appendix' SubClassOf 'part_of' some 'caecum' 'vermiform appendix' SubClassOf 'develops_from' some 'midgut' http://purl.obolibrary.org/obo/UBERON_0001155 colon 'colon' SubClassOf 'part_of' some 'large intestine' 'colon' SubClassOf 'part_of' some 'digestive system' http://www.orpha.net/ORDO/Orphanet_276585 Diazoxide-resistant hyperinsulinism 'Diazoxide-resistant hyperinsulinism' SubClassOf 'Congenital isolated hyperinsulinism' 'Diazoxide-resistant hyperinsulinism' SubClassOf 'Congenital isolated hyperinsulinism' http://purl.obolibrary.org/obo/CLO_0013077 GM17289 'GM17289' SubClassOf 'has_quality' some 'female' 'GM17289' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17289' SubClassOf 'cultured cell' http://www.orpha.net/ORDO/Orphanet_251287 Benign concentric annular macular dystrophy 'Benign concentric annular macular dystrophy' SubClassOf 'Genetic macular dystrophy' 'Benign concentric annular macular dystrophy' SubClassOf 'Genetic macular dystrophy' http://www.ebi.ac.uk/efo/EFO_1000202 Complex Endometrial Hyperplasia 'Complex Endometrial Hyperplasia' SubClassOf 'female reproductive system disease' 'Complex Endometrial Hyperplasia' SubClassOf 'hyperplasia' 'Complex Endometrial Hyperplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0041161 'Complex Endometrial Hyperplasia' SubClassOf 'has_disease_location' some ('endometrium' or ('part_of' some 'endometrium')) 'Complex Endometrial Hyperplasia' SubClassOf 'hyperplasia' http://www.ebi.ac.uk/efo/EFO_0000473 epigenetic status 'epigenetic status' SubClassOf 'is_about' some 'genome' http://www.ebi.ac.uk/efo/EFO_1000203 Conjunctival Disorder 'Conjunctival Disorder' SubClassOf 'has_disease_location' some ('eye' or ('part_of' some 'eye')) 'Conjunctival Disorder' SubClassOf 'eye disease' http://www.ebi.ac.uk/efo/EFO_0000474 epilepsy 'epilepsy' SubClassOf 'central nervous system disease' 'epilepsy' SubClassOf 'has_disease_location' some 'brain' 'epilepsy' SubClassOf 'brain disease' 'epilepsy' SubClassOf 'has_disease_location' only 'brain' http://www.ebi.ac.uk/efo/EFO_1000200 Combined Lung Carcinoma 'Combined Lung Carcinoma' SubClassOf 'lung carcinoma' 'Combined Lung Carcinoma' SubClassOf 'endocrine neoplasm' 'Combined Lung Carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002120 'Combined Lung Carcinoma' SubClassOf 'has_disease_location' some ('lung' or ('part_of' some 'lung')) 'Combined Lung Carcinoma' SubClassOf 'pulmonary neuroendocrine tumor' 'Combined Lung Carcinoma' SubClassOf 'lung carcinoma' 'Combined Lung Carcinoma' SubClassOf 'Malignant Mixed Neoplasm' 'Combined Lung Carcinoma' SubClassOf 'endocrine neoplasm' http://www.ebi.ac.uk/efo/EFO_1000201 Common Hematopoietic Neoplasm 'Common Hematopoietic Neoplasm' SubClassOf 'neoplasm' 'Common Hematopoietic Neoplasm' SubClassOf 'neoplasm' 'Common Hematopoietic Neoplasm' SubClassOf 'has_disease_location' some ('hematopoietic system' or ('part_of' some 'hematopoietic system')) http://www.orpha.net/ORDO/Orphanet_276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency 'Autosomal dominant hyperinsulinism due to Kir6.2 deficiency' SubClassOf 'Diazoxide-sensitive diffuse hyperinsulinism' 'Autosomal dominant hyperinsulinism due to Kir6.2 deficiency' SubClassOf 'Diazoxide-sensitive diffuse hyperinsulinism' 'Autosomal dominant hyperinsulinism due to Kir6.2 deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0011153 http://www.ebi.ac.uk/efo/EFO_0000476 obsolete_epithelial cell of lung 'obsolete_epithelial cell of lung' SubClassOf 'obsolete class' 'obsolete_epithelial cell of lung' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000478 esophageal adenocarcinoma 'esophageal adenocarcinoma' SubClassOf 'adenocarcinoma' 'esophageal adenocarcinoma' SubClassOf 'adenocarcinoma' 'esophageal adenocarcinoma' SubClassOf 'has_disease_location' some 'esophagus' 'esophageal adenocarcinoma' SubClassOf 'has_disease_location' some 'digestive system disease' 'esophageal adenocarcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019086 http://www.orpha.net/ORDO/Orphanet_309192 Tay-Sachs disease, B variant, adult form 'Tay-Sachs disease, B variant, adult form' SubClassOf 'Tay-Sachs disease' 'Tay-Sachs disease, B variant, adult form' SubClassOf 'Tay-Sachs disease' http://www.ebi.ac.uk/efo/EFO_0000479 essential thrombocythemia 'essential thrombocythemia' SubClassOf 'chronic myeloproliferative disorder' 'essential thrombocythemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024499 'essential thrombocythemia' SubClassOf 'chronic myeloproliferative disorder' 'essential thrombocythemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016637 'essential thrombocythemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002095 http://purl.obolibrary.org/obo/CLO_0026399 ND00268 'ND00268' SubClassOf 'has_quality' some 'male' 'ND00268' SubClassOf 'cultured cell' 'ND00268' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/UBERON_0001160 fundus of stomach 'fundus of stomach' SubClassOf 'part_of' some 'stomach' http://www.orpha.net/ORDO/Orphanet_289860 Infantile glycine encephalopathy 'Infantile glycine encephalopathy' SubClassOf 'Glycine encephalopathy' 'Infantile glycine encephalopathy' SubClassOf 'Glycine encephalopathy' http://www.ebi.ac.uk/efo/EFO_1000208 Cortisol-Producing Adrenal Cortex Adenoma 'Cortisol-Producing Adrenal Cortex Adenoma' SubClassOf 'endocrine neoplasm' 'Cortisol-Producing Adrenal Cortex Adenoma' SubClassOf 'adenoma' 'Cortisol-Producing Adrenal Cortex Adenoma' SubClassOf 'has_disease_location' some ('adrenal cortex' or ('part_of' some 'adrenal cortex')) 'Cortisol-Producing Adrenal Cortex Adenoma' SubClassOf 'adrenocortical adenoma' 'Cortisol-Producing Adrenal Cortex Adenoma' SubClassOf 'endocrine neoplasm' 'Cortisol-Producing Adrenal Cortex Adenoma' SubClassOf 'adenoma' http://www.ebi.ac.uk/efo/EFO_1000209 Craniopharyngioma 'Craniopharyngioma' SubClassOf 'disease has feature' some http://purl.obolibrary.org/obo/MONDO_0019833 'Craniopharyngioma' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0024491 'Craniopharyngioma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000628 'Craniopharyngioma' SubClassOf 'disease has feature' some http://purl.obolibrary.org/obo/MONDO_0019590 'Craniopharyngioma' SubClassOf 'neoplasm' 'Craniopharyngioma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0036976 'Craniopharyngioma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023369 'Craniopharyngioma' SubClassOf 'has_disease_location' some ('brain' or ('part_of' some 'brain')) 'Craniopharyngioma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000631 'Craniopharyngioma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002720 'Craniopharyngioma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002532 http://www.ebi.ac.uk/efo/EFO_1000206 Conjunctival Squamous Cell Carcinoma 'Conjunctival Squamous Cell Carcinoma' SubClassOf 'head and neck neoplasia' 'Conjunctival Squamous Cell Carcinoma' SubClassOf 'eye neoplasm' 'Conjunctival Squamous Cell Carcinoma' SubClassOf 'squamous cell carcinoma' 'Conjunctival Squamous Cell Carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 'Conjunctival Squamous Cell Carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002466 'Conjunctival Squamous Cell Carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003454 'Conjunctival Squamous Cell Carcinoma' SubClassOf 'eye neoplasm' 'Conjunctival Squamous Cell Carcinoma' SubClassOf 'has_disease_location' some ('conjunctiva' or ('part_of' some 'conjunctiva')) 'Conjunctival Squamous Cell Carcinoma' SubClassOf 'squamous cell carcinoma' 'Conjunctival Squamous Cell Carcinoma' SubClassOf 'head and neck squamous cell carcinoma' http://www.ebi.ac.uk/efo/EFO_1000207 obsolete_cortex of kidney 'obsolete_cortex of kidney' SubClassOf 'obsolete class' 'obsolete_cortex of kidney' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000204 Conjunctival Melanoma 'Conjunctival Melanoma' SubClassOf 'eye neoplasm' 'Conjunctival Melanoma' SubClassOf 'melanoma' 'Conjunctival Melanoma' SubClassOf 'eye neoplasm' 'Conjunctival Melanoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003454 'Conjunctival Melanoma' SubClassOf 'Familial melanoma' 'Conjunctival Melanoma' SubClassOf 'Ocular Melanoma' 'Conjunctival Melanoma' SubClassOf 'has_disease_location' some ('eye' or ('part_of' some 'eye')) 'Conjunctival Melanoma' SubClassOf 'melanoma' http://www.ebi.ac.uk/efo/EFO_1000205 Conjunctival Nevus 'Conjunctival Nevus' SubClassOf 'nevus' 'Conjunctival Nevus' SubClassOf 'eye neoplasm' 'Conjunctival Nevus' SubClassOf 'nevus' 'Conjunctival Nevus' SubClassOf 'melanocytic nevus' 'Conjunctival Nevus' SubClassOf 'eye neoplasm' 'Conjunctival Nevus' SubClassOf 'Benign Conjunctival Neoplasm' 'Conjunctival Nevus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 'Conjunctival Nevus' SubClassOf 'has_disease_location' some ('eye' or ('part_of' some 'eye')) http://www.orpha.net/ORDO/Orphanet_289869 Disorder of ornithine metabolism 'Disorder of ornithine metabolism' SubClassOf 'Disorder of ornithine or proline metabolism' 'Disorder of ornithine metabolism' SubClassOf 'Disorder of ornithine or proline metabolism' 'Disorder of ornithine metabolism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004736 http://www.orpha.net/ORDO/Orphanet_94124 Spinocerebellar ataxia type 1 with axonal neuropathy 'Spinocerebellar ataxia type 1 with axonal neuropathy' SubClassOf 'Autosomal recessive cerebellar ataxia due to a DNA repair defect' 'Spinocerebellar ataxia type 1 with axonal neuropathy' SubClassOf 'Genetic peripheral neuropathy' 'Spinocerebellar ataxia type 1 with axonal neuropathy' SubClassOf 'Autosomal recessive cerebellar ataxia due to a DNA repair defect' 'Spinocerebellar ataxia type 1 with axonal neuropathy' SubClassOf 'Genetic peripheral neuropathy' http://www.orpha.net/ORDO/Orphanet_94122 Cerebellar ataxia, Cayman type 'Cerebellar ataxia, Cayman type' SubClassOf 'Autosomal recessive congenital cerebellar ataxia' 'Cerebellar ataxia, Cayman type' SubClassOf 'Autosomal recessive congenital cerebellar ataxia' http://www.orpha.net/ORDO/Orphanet_289866 Disorder of proline metabolism 'Disorder of proline metabolism' SubClassOf 'Disorder of ornithine or proline metabolism' 'Disorder of proline metabolism' SubClassOf 'Disorder of ornithine or proline metabolism' 'Disorder of proline metabolism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004736 http://purl.obolibrary.org/obo/UBERON_0001165 pyloric antrum 'pyloric antrum' SubClassOf 'part_of' some 'stomach' http://www.orpha.net/ORDO/Orphanet_289863 Atypical glycine encephalopathy 'Atypical glycine encephalopathy' SubClassOf 'Glycine encephalopathy' 'Atypical glycine encephalopathy' SubClassOf 'Glycine encephalopathy' http://www.orpha.net/ORDO/Orphanet_276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency 'Autosomal dominant hyperinsulinism due to SUR1 deficiency' SubClassOf 'Diazoxide-sensitive diffuse hyperinsulinism' 'Autosomal dominant hyperinsulinism due to SUR1 deficiency' SubClassOf 'Diazoxide-sensitive diffuse hyperinsulinism' 'Autosomal dominant hyperinsulinism due to SUR1 deficiency' SubClassOf 'hyperinsulinemic hypoglycemia' http://purl.obolibrary.org/obo/CLO_0013086 GM17286 'GM17286' SubClassOf 'cultured cell' 'GM17286' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17286' SubClassOf 'has_quality' some 'female' http://purl.obolibrary.org/obo/CLO_0013082 GM17287 'GM17287' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17287' SubClassOf 'has_quality' some 'male' 'GM17287' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0000460 obsolete_embryonic gastric caecum 'obsolete_embryonic gastric caecum' SubClassOf 'obsolete class' 'obsolete_embryonic gastric caecum' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_94125 Recessive mitochondrial ataxia syndrome 'Recessive mitochondrial ataxia syndrome' SubClassOf 'Autosomal recessive metabolic cerebellar ataxia' 'Recessive mitochondrial ataxia syndrome' SubClassOf 'Ataxia neuropathy spectrum' 'Recessive mitochondrial ataxia syndrome' SubClassOf 'Autosomal recessive metabolic cerebellar ataxia' 'Recessive mitochondrial ataxia syndrome' SubClassOf 'Metabolic disease with dementia' 'Recessive mitochondrial ataxia syndrome' SubClassOf 'Ataxia neuropathy spectrum' http://www.ebi.ac.uk/efo/EFO_1000213 Cystic Nephroma 'Cystic Nephroma' SubClassOf 'kidney neoplasm' 'Cystic Nephroma' SubClassOf 'has_disease_location' some ('kidney' or ('part_of' some 'kidney')) 'Cystic Nephroma' SubClassOf 'kidney neoplasm' http://www.ebi.ac.uk/efo/EFO_1000214 Dedifferentiated Solitary Fibrous Tumor 'Dedifferentiated Solitary Fibrous Tumor' SubClassOf 'carcinoma' 'Dedifferentiated Solitary Fibrous Tumor' SubClassOf 'carcinoma' 'Dedifferentiated Solitary Fibrous Tumor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016238 http://www.ebi.ac.uk/efo/EFO_0000463 obsolete_Emery-Dreifuss muscular dystrophy 'obsolete_Emery-Dreifuss muscular dystrophy' SubClassOf 'obsolete class' 'obsolete_Emery-Dreifuss muscular dystrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000211 Cutaneous Follicular Lymphoma 'Cutaneous Follicular Lymphoma' SubClassOf 'skin neoplasm' 'Cutaneous Follicular Lymphoma' SubClassOf 'skin neoplasm' 'Cutaneous Follicular Lymphoma' SubClassOf 'has_disease_location' some ('zone of skin' or ('part_of' some 'zone of skin')) http://www.ebi.ac.uk/efo/EFO_0000464 emphysema 'emphysema' SubClassOf 'lung disease' 'emphysema' SubClassOf 'has_disease_location' some 'lung' 'emphysema' SubClassOf 'chronic obstructive pulmonary disease' http://www.ebi.ac.uk/efo/EFO_1000212 Cutaneous Undifferentiated Pleomorphic Sarcoma 'Cutaneous Undifferentiated Pleomorphic Sarcoma' SubClassOf 'skin neoplasm' 'Cutaneous Undifferentiated Pleomorphic Sarcoma' SubClassOf 'sarcoma' 'Cutaneous Undifferentiated Pleomorphic Sarcoma' SubClassOf 'undifferentiated pleomorphic sarcoma' 'Cutaneous Undifferentiated Pleomorphic Sarcoma' SubClassOf 'Skin Sarcoma' 'Cutaneous Undifferentiated Pleomorphic Sarcoma' SubClassOf 'sarcoma' 'Cutaneous Undifferentiated Pleomorphic Sarcoma' SubClassOf 'has_disease_location' some ('zone of skin' or ('part_of' some 'zone of skin')) http://www.orpha.net/ORDO/Orphanet_251290 Parietal foramina with cleidocranial dysplasia 'Parietal foramina with cleidocranial dysplasia' SubClassOf 'Cleidocranial dysplasia and isolated cranial ossification defect' 'Parietal foramina with cleidocranial dysplasia' SubClassOf 'Cleidocranial dysplasia and isolated cranial ossification defect' 'Parietal foramina with cleidocranial dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020018 http://www.ebi.ac.uk/efo/EFO_0000465 endocarditis 'endocarditis' SubClassOf 'heart disease' 'endocarditis' SubClassOf 'has_disease_location' some 'endocardium' 'endocarditis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024636 'endocarditis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000470 http://www.ebi.ac.uk/efo/EFO_0000466 endometrioid carcinoma 'endometrioid carcinoma' SubClassOf 'female reproductive system disease' 'endometrioid carcinoma' SubClassOf 'carcinoma' 'endometrioid carcinoma' SubClassOf 'urogenital neoplasm' 'endometrioid carcinoma' SubClassOf 'has_disease_location' some 'female reproductive system' 'endometrioid carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001416 'endometrioid carcinoma' SubClassOf 'adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_1000210 Cribriform Carcinoma 'Cribriform Carcinoma' SubClassOf 'carcinoma' 'Cribriform Carcinoma' SubClassOf 'has_disease_location' some ('breast' or ('part_of' some 'breast')) http://www.orpha.net/ORDO/Orphanet_251295 Pigmented paravenous retinochoroidal atrophy 'Pigmented paravenous retinochoroidal atrophy' SubClassOf 'Retinal dystrophy' 'Pigmented paravenous retinochoroidal atrophy' SubClassOf 'Retinal dystrophy' http://www.ebi.ac.uk/efo/EFO_0000468 obsolete_environment 'obsolete_environment' SubClassOf 'obsolete class' 'obsolete_environment' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000469 environmental factor 'environmental factor' SubClassOf 'derives_from' some 'erythroblast' http://www.ebi.ac.uk/efo/EFO_1000219 Digestive System Mixed Adenoneuroendocrine Carcinoma 'Digestive System Mixed Adenoneuroendocrine Carcinoma' SubClassOf 'digestive system disease' 'Digestive System Mixed Adenoneuroendocrine Carcinoma' SubClassOf 'carcinoma' 'Digestive System Mixed Adenoneuroendocrine Carcinoma' SubClassOf 'has_disease_location' some ('digestive system' or ('part_of' some 'digestive system')) 'Digestive System Mixed Adenoneuroendocrine Carcinoma' SubClassOf 'Digestive System Carcinoma' 'Digestive System Mixed Adenoneuroendocrine Carcinoma' SubClassOf 'carcinoma' http://www.ebi.ac.uk/efo/EFO_1000217 Digestive System Adenoma 'Digestive System Adenoma' SubClassOf 'adenoma' 'Digestive System Adenoma' SubClassOf 'digestive system neoplasm' 'Digestive System Adenoma' SubClassOf 'adenoma' 'Digestive System Adenoma' SubClassOf 'has_disease_location' some ('digestive system' or ('part_of' some 'digestive system')) 'Digestive System Adenoma' SubClassOf 'digestive system neoplasm' http://www.ebi.ac.uk/efo/EFO_1000218 Digestive System Carcinoma 'Digestive System Carcinoma' SubClassOf 'digestive system neoplasm' 'Digestive System Carcinoma' SubClassOf 'carcinoma' 'Digestive System Carcinoma' SubClassOf 'has_disease_location' some ('digestive system' or ('part_of' some 'digestive system')) 'Digestive System Carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002516 'Digestive System Carcinoma' SubClassOf 'carcinoma' http://www.ebi.ac.uk/efo/EFO_1000215 Desmoplastic Ameloblastoma 'Desmoplastic Ameloblastoma' SubClassOf 'neoplasm' 'Desmoplastic Ameloblastoma' SubClassOf 'neoplasm' 'Desmoplastic Ameloblastoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017795 http://purl.obolibrary.org/obo/CHEBI_3347 candesartan 'candesartan' SubClassOf 'has_role' some 'drug role' http://www.ebi.ac.uk/efo/EFO_1000216 Diffuse Melanocytosis 'Diffuse Melanocytosis' SubClassOf 'meningeal neoplasm' 'Diffuse Melanocytosis' SubClassOf 'meningeal neoplasm' 'Diffuse Melanocytosis' SubClassOf 'has_disease_location' some ('meninx' or ('part_of' some 'meninx')) http://purl.obolibrary.org/obo/CLO_0013080 GM17288 'GM17288' SubClassOf 'has_quality' some 'male' 'GM17288' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17288' SubClassOf 'cultured cell' http://purl.obolibrary.org/obo/UBERON_0001179 peritoneal cavity 'peritoneal cavity' SubClassOf 'animal component' 'peritoneal cavity' SubClassOf 'animal component' http://www.orpha.net/ORDO/Orphanet_1383 Cataract - deafness - hypogonadism 'Cataract - deafness - hypogonadism' SubClassOf 'Syndromic genetic deafness' 'Cataract - deafness - hypogonadism' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Cataract - deafness - hypogonadism' SubClassOf 'Syndromic genetic deafness' 'Cataract - deafness - hypogonadism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Cataract - deafness - hypogonadism' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/CHEBI_72995 3-hydroxybutyrylcarnitine '3-hydroxybutyrylcarnitine' SubClassOf 'chemical entity' '3-hydroxybutyrylcarnitine' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_1381 Cataract - intellectual disability - anal atresia - urinary defects 'Cataract - intellectual disability - anal atresia - urinary defects' SubClassOf 'Syndromic developmental defect of the eye' 'Cataract - intellectual disability - anal atresia - urinary defects' SubClassOf 'Syndromic anorectal malformation' 'Cataract - intellectual disability - anal atresia - urinary defects' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Cataract - intellectual disability - anal atresia - urinary defects' SubClassOf 'Syndromic cataract' 'Cataract - intellectual disability - anal atresia - urinary defects' SubClassOf 'Syndromic developmental defect of the eye' 'Cataract - intellectual disability - anal atresia - urinary defects' SubClassOf 'Syndromic anorectal malformation' 'Cataract - intellectual disability - anal atresia - urinary defects' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Cataract - intellectual disability - anal atresia - urinary defects' SubClassOf 'Syndromic cataract' 'Cataract - intellectual disability - anal atresia - urinary defects' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 http://www.ebi.ac.uk/efo/EFO_0000371 obsolete_congenital bilateral absence of the vas deferens 'obsolete_congenital bilateral absence of the vas deferens' SubClassOf 'obsolete class' 'obsolete_congenital bilateral absence of the vas deferens' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000372 obsolete_congestive cardiomyopathy 'obsolete_congestive cardiomyopathy' SubClassOf 'obsolete class' 'obsolete_congestive cardiomyopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1380 Cataract - nephropathy - encephalopathy 'Cataract - nephropathy - encephalopathy' SubClassOf 'Syndromic renal or urinary tract malformation' 'Cataract - nephropathy - encephalopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Cataract - nephropathy - encephalopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Cataract - nephropathy - encephalopathy' SubClassOf 'Syndromic renal or urinary tract malformation' http://www.ebi.ac.uk/efo/EFO_0000373 congestive heart failure 'congestive heart failure' SubClassOf 'heart failure' 'congestive heart failure' SubClassOf 'heart failure' http://www.ebi.ac.uk/efo/EFO_0000374 obsolete_conjunctiva structure 'obsolete_conjunctiva structure' SubClassOf 'obsolete class' 'obsolete_conjunctiva structure' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000376 obsolete_conventional clear cell renal carcinoma 'obsolete_conventional clear cell renal carcinoma' SubClassOf 'obsolete class' 'obsolete_conventional clear cell renal carcinoma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000377 obsolete_cornea structure 'obsolete_cornea structure' SubClassOf 'obsolete class' 'obsolete_cornea structure' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1389 Cortical blindness - intellectual disability - polydactyly 'Cortical blindness - intellectual disability - polydactyly' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Cortical blindness - intellectual disability - polydactyly' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Cortical blindness - intellectual disability - polydactyly' SubClassOf 'Nervous system anomaly with eye involvement' 'Cortical blindness - intellectual disability - polydactyly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Cortical blindness - intellectual disability - polydactyly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 http://www.ebi.ac.uk/efo/EFO_0000378 coronary artery disease 'coronary artery disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000473 'coronary artery disease' SubClassOf 'heart disease' http://www.ebi.ac.uk/efo/EFO_0000379 obsolete_corpus allatum 'obsolete_corpus allatum' SubClassOf 'obsolete class' 'obsolete_corpus allatum' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1387 Cataract - intellectual disability - hypogonadism 'Cataract - intellectual disability - hypogonadism' SubClassOf 'Rare disorder with hypogonadotropic hypogonadism' 'Cataract - intellectual disability - hypogonadism' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Cataract - intellectual disability - hypogonadism' SubClassOf 'Syndromic cataract' 'Cataract - intellectual disability - hypogonadism' SubClassOf 'Syndromic developmental defect of the eye' 'Cataract - intellectual disability - hypogonadism' SubClassOf 'Rare disorder with hypogonadotropic hypogonadism' 'Cataract - intellectual disability - hypogonadism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Cataract - intellectual disability - hypogonadism' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Cataract - intellectual disability - hypogonadism' SubClassOf 'Syndromic cataract' 'Cataract - intellectual disability - hypogonadism' SubClassOf 'Syndromic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_1388 Catel-Manzke syndrome 'Catel-Manzke syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Catel-Manzke syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Catel-Manzke syndrome' SubClassOf 'Orofacial clefting syndrome' 'Catel-Manzke syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Catel-Manzke syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Catel-Manzke syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 'Catel-Manzke syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Catel-Manzke syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Catel-Manzke syndrome' SubClassOf 'Orofacial clefting syndrome' http://purl.obolibrary.org/obo/CHEBI_5931 insulin 'insulin' SubClassOf 'has_role' some 'drug role' 'insulin' SubClassOf 'has_role' some 'hormone role' http://purl.obolibrary.org/obo/HP_0004363 Abnormality of calcium homeostasis 'Abnormality of calcium homeostasis' EquivalentTo 'has part' some ('quality' and ('inheres_in' some 'calcium ion homeostasis') and ('has component' some 'abnormal')) http://www.orpha.net/ORDO/Orphanet_1396 Cerebro-reno-digital syndrome 'Cerebro-reno-digital syndrome' SubClassOf 'Familial cystic renal disease' 'Cerebro-reno-digital syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Cerebro-reno-digital syndrome' SubClassOf 'Familial cystic renal disease' 'Cerebro-reno-digital syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' http://www.orpha.net/ORDO/Orphanet_1397 Cerebellum agenesis - hydrocephaly 'Cerebellum agenesis - hydrocephaly' SubClassOf 'X-linked syndromic intellectual disability' 'Cerebellum agenesis - hydrocephaly' SubClassOf 'X-linked syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_1394 Cerebro-facio-thoracic dysplasia 'Cerebro-facio-thoracic dysplasia' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Cerebro-facio-thoracic dysplasia' SubClassOf 'Dysostosis with predominant vertebral and costal involvement' 'Cerebro-facio-thoracic dysplasia' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Cerebro-facio-thoracic dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Cerebro-facio-thoracic dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Cerebro-facio-thoracic dysplasia' SubClassOf 'Rare genetic neurological disorder' 'Cerebro-facio-thoracic dysplasia' SubClassOf 'Dysostosis with predominant vertebral and costal involvement' http://www.orpha.net/ORDO/Orphanet_1393 Cerebro-costo-mandibular syndrome 'Cerebro-costo-mandibular syndrome' SubClassOf 'Dysostosis with predominant vertebral and costal involvement' 'Cerebro-costo-mandibular syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007 'Cerebro-costo-mandibular syndrome' SubClassOf 'Dysostosis with predominant vertebral and costal involvement' http://www.ebi.ac.uk/efo/EFO_0000360 obsolete_colorectal tumor 'obsolete_colorectal tumor' SubClassOf 'obsolete class' 'obsolete_colorectal tumor' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1390 Night blindness - skeletal anomalies - dysmorphism 'Night blindness - skeletal anomalies - dysmorphism' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Night blindness - skeletal anomalies - dysmorphism' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.ebi.ac.uk/efo/EFO_0000361 obsolete_colon 'obsolete_colon' SubClassOf 'obsolete class' 'obsolete_colon' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000362 obsolete_colon adenocarcinoma 'obsolete_colon adenocarcinoma' SubClassOf 'obsolete class' 'obsolete_colon adenocarcinoma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000363 obsolete_colon carcinoma 'obsolete_colon carcinoma' SubClassOf 'obsolete class' 'obsolete_colon carcinoma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000364 colon mucinous adenocarcinoma 'colon mucinous adenocarcinoma' SubClassOf 'colon adenocarcinoma' 'colon mucinous adenocarcinoma' SubClassOf 'mucinous carcinoma' 'colon mucinous adenocarcinoma' SubClassOf 'has_disease_location' some 'colon' 'colon mucinous adenocarcinoma' SubClassOf 'colon adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0000365 colorectal adenocarcinoma 'colorectal adenocarcinoma' SubClassOf 'adenocarcinoma' 'colorectal adenocarcinoma' SubClassOf 'colorectal carcinoma' 'colorectal adenocarcinoma' SubClassOf 'has_disease_location' some 'rectum' 'colorectal adenocarcinoma' SubClassOf 'has_disease_location' some 'colon' 'colorectal adenocarcinoma' SubClassOf 'adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0000367 obsolete_common variable immunodeficiency 'obsolete_common variable immunodeficiency' SubClassOf 'obsolete class' 'obsolete_common variable immunodeficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/CHEBI_556075 radicicol 'radicicol' SubClassOf ('has_role' some 'antimicrobial agent') and ('has_role' some 'antifungal drug') http://www.orpha.net/ORDO/Orphanet_1399 Richards-Rundle syndrome 'Richards-Rundle syndrome' SubClassOf 'Syndromic genetic deafness' 'Richards-Rundle syndrome' SubClassOf 'Syndromic genetic deafness' 'Richards-Rundle syndrome' SubClassOf 'hereditary ataxia' http://purl.obolibrary.org/obo/EO_0007129 UV-C light regimen 'UV-C light regimen' SubClassOf 'UV light regimen' 'UV-C light regimen' SubClassOf 'UV light regimen' http://www.ebi.ac.uk/efo/EFO_0000390 obsolete_cystic fibrosis 'obsolete_cystic fibrosis' SubClassOf 'obsolete class' 'obsolete_cystic fibrosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000392 obsolete_damage response 'obsolete_damage response' SubClassOf 'obsolete class' 'obsolete_damage response' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000394 dedifferentiated chondrosarcoma 'dedifferentiated chondrosarcoma' SubClassOf 'bone neoplasm' 'dedifferentiated chondrosarcoma' SubClassOf 'sarcoma' 'dedifferentiated chondrosarcoma' SubClassOf 'bone disease' 'dedifferentiated chondrosarcoma' SubClassOf 'has_disease_location' some 'bone' 'dedifferentiated chondrosarcoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000515 'dedifferentiated chondrosarcoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021054 http://www.ebi.ac.uk/efo/EFO_0000398 dermatomyositis 'dermatomyositis' SubClassOf 'myositis' 'dermatomyositis' SubClassOf 'skin disease' 'dermatomyositis' SubClassOf 'myositis' 'dermatomyositis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002406 'dermatomyositis' SubClassOf 'has_disease_location' some 'zone of skin' 'dermatomyositis' SubClassOf 'connective tissue disease' 'dermatomyositis' SubClassOf 'has_disease_location' some 'musculature' 'dermatomyositis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 'dermatomyositis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017368 'dermatomyositis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017841 'dermatomyositis' SubClassOf 'polymyositis' 'dermatomyositis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 http://www.orpha.net/ORDO/Orphanet_179490 Obesity due to congenital leptin resistance 'Obesity due to congenital leptin resistance' SubClassOf 'Genetic non-syndromic obesity' 'Obesity due to congenital leptin resistance' SubClassOf 'Genetic non-syndromic obesity' http://www.orpha.net/ORDO/Orphanet_179494 Obesity due to leptin receptor gene deficiency 'Obesity due to leptin receptor gene deficiency' SubClassOf 'Hypogonadotropic hypogonadism associated with other endocrinopathies' 'Obesity due to leptin receptor gene deficiency' SubClassOf 'Obesity due to congenital leptin resistance' 'Obesity due to leptin receptor gene deficiency' SubClassOf 'Isolated congenital hypogonadotropic hypogonadism' 'Obesity due to leptin receptor gene deficiency' SubClassOf 'Hypogonadotropic hypogonadism associated with other endocrinopathies' 'Obesity due to leptin receptor gene deficiency' SubClassOf 'Obesity due to congenital leptin resistance' http://purl.obolibrary.org/obo/CLO_0016951 GM07348 'GM07348' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM07348' SubClassOf 'has_quality' some 'female' 'GM07348' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0000380 obsolete_corpus cardiacum 'obsolete_corpus cardiacum' SubClassOf 'obsolete class' 'obsolete_corpus cardiacum' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_289829 Disorder of tryptophan metabolism 'Disorder of tryptophan metabolism' SubClassOf 'Disorder of amino acid and other organic acid metabolism' 'Disorder of tryptophan metabolism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004736 http://www.ebi.ac.uk/efo/EFO_0000381 obsolete_corpus striatum 'obsolete_corpus striatum' SubClassOf 'obsolete class' 'obsolete_corpus striatum' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000382 obsolete_corpus uteri 'obsolete_corpus uteri' SubClassOf 'obsolete class' 'obsolete_corpus uteri' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000383 obsolete_cortex 'obsolete_cortex' SubClassOf 'obsolete class' 'obsolete_cortex' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000384 Crohn's disease 'Crohn's disease' SubClassOf 'inflammatory bowel disease' 'Crohn's disease' SubClassOf 'inflammatory bowel disease' 'Crohn's disease' SubClassOf 'disease has feature' some http://purl.obolibrary.org/obo/MONDO_0002508 'Crohn's disease' SubClassOf 'disease has feature' some 'dysentery' 'Crohn's disease' SubClassOf 'disease has feature' some http://purl.obolibrary.org/obo/MONDO_0002203 http://www.ebi.ac.uk/efo/EFO_0000387 obsolete_cultivar 'obsolete_cultivar' SubClassOf 'obsolete class' 'obsolete_cultivar' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000389 cutaneous melanoma 'cutaneous melanoma' SubClassOf 'melanoma' 'cutaneous melanoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002898 'cutaneous melanoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021583 'cutaneous melanoma' SubClassOf 'melanoma' 'cutaneous melanoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002120 'cutaneous melanoma' DisjointWith 'Non-Cutaneous Melanoma' http://purl.obolibrary.org/obo/EO_0007105 abscisic acid treatment 'abscisic acid treatment' SubClassOf 'growth hormone treatment' 'abscisic acid treatment' SubClassOf 'growth hormone treatment' http://www.orpha.net/ORDO/Orphanet_289832 Disorder of lysine and hydroxylysine metabolism 'Disorder of lysine and hydroxylysine metabolism' SubClassOf 'Disorder of amino acid and other organic acid metabolism' 'Disorder of lysine and hydroxylysine metabolism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0037938 http://purl.obolibrary.org/obo/CLO_0014344 GM17232 'GM17232' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17232' SubClassOf 'has_quality' some 'male' 'GM17232' SubClassOf 'cultured cell' http://www.orpha.net/ORDO/Orphanet_2673 Neurofaciodigitorenal syndrome 'Neurofaciodigitorenal syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Neurofaciodigitorenal syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Neurofaciodigitorenal syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Neurofaciodigitorenal syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Neurofaciodigitorenal syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Neurofaciodigitorenal syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 http://www.orpha.net/ORDO/Orphanet_1342 Heart-hand syndrome type 3 'Heart-hand syndrome type 3' SubClassOf 'Heart-hand syndrome' 'Heart-hand syndrome type 3' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Heart-hand syndrome type 3' SubClassOf 'Genetic cardiac rhythm disease' 'Heart-hand syndrome type 3' SubClassOf 'Holt-Oram syndrome' http://www.orpha.net/ORDO/Orphanet_2671 Neu-Laxova syndrome 'Neu-Laxova syndrome' SubClassOf 'Lissencephaly type 3' 'Neu-Laxova syndrome' SubClassOf 'Autosomal ichthyosis syndrome with prominent neurologics signs' 'Neu-Laxova syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Neu-Laxova syndrome' SubClassOf 'Autosomal ichthyosis syndrome with fatal disease course' 'Neu-Laxova syndrome' SubClassOf 'Lissencephaly type 3' 'Neu-Laxova syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018491 'Neu-Laxova syndrome' SubClassOf 'Autosomal ichthyosis syndrome with prominent neurologics signs' 'Neu-Laxova syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Neu-Laxova syndrome' SubClassOf 'Developmental anomaly of metabolic origin' http://purl.obolibrary.org/obo/CLO_0014347 GM17230 'GM17230' SubClassOf 'has_quality' some 'female' 'GM17230' SubClassOf 'cultured cell' 'GM17230' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/PO_0005417 phloem 'phloem' SubClassOf 'vascular system' 'phloem' SubClassOf 'vascular system' http://www.orpha.net/ORDO/Orphanet_1340 Cardiofaciocutaneous syndrome 'Cardiofaciocutaneous syndrome' SubClassOf 'Noonan syndrome and Noonan-related syndrome' 'Cardiofaciocutaneous syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Cardiofaciocutaneous syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Cardiofaciocutaneous syndrome' SubClassOf 'Noonan syndrome and Noonan-related syndrome' 'Cardiofaciocutaneous syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Cardiofaciocutaneous syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Cardiofaciocutaneous syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Cardiofaciocutaneous syndrome' SubClassOf 'rasopathy' 'Cardiofaciocutaneous syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 http://www.orpha.net/ORDO/Orphanet_2670 Pierson syndrome 'Pierson syndrome' SubClassOf 'Primary glomerular disease' 'Pierson syndrome' SubClassOf 'LAMB2-related infantile-onset nephrotic syndrome' 'Pierson syndrome' SubClassOf 'autosomal recessive disease' http://www.orpha.net/ORDO/Orphanet_276525 Familial hyperinsulinism 'Familial hyperinsulinism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018619 'Familial hyperinsulinism' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0002177 and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) 'Familial hyperinsulinism' SubClassOf 'Inborn errors of metabolism' 'Familial hyperinsulinism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002177 http://www.orpha.net/ORDO/Orphanet_1349 Maternally-inherited cardiomyopathy and hearing loss 'Maternally-inherited cardiomyopathy and hearing loss' SubClassOf 'Mitochondrial disease with hypertrophic cardiomyopathy' 'Maternally-inherited cardiomyopathy and hearing loss' SubClassOf 'Mitochondrial disease with hypertrophic cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_2679 Infantile axonal neuropathy 'Infantile axonal neuropathy' SubClassOf 'Genetic peripheral neuropathy' 'Infantile axonal neuropathy' SubClassOf 'Genetic peripheral neuropathy' http://www.orpha.net/ORDO/Orphanet_2678 Neurofibromatosis type 6 'Neurofibromatosis type 6' SubClassOf 'Genetic hyperpigmentation of the skin' 'Neurofibromatosis type 6' SubClassOf 'Genetic hyperpigmentation of the skin' http://purl.obolibrary.org/obo/CLO_0014340 GM17234 'GM17234' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17234' SubClassOf 'has_quality' some 'female' 'GM17234' SubClassOf 'cultured cell' http://www.orpha.net/ORDO/Orphanet_1345 Cardiomyopathy - cataract - hip spine disease 'Cardiomyopathy - cataract - hip spine disease' SubClassOf 'Syndrome associated with dilated cardiomyopathy' 'Cardiomyopathy - cataract - hip spine disease' SubClassOf 'Syndrome associated with dilated cardiomyopathy' http://purl.obolibrary.org/obo/CLO_0014341 GM17231 'GM17231' SubClassOf 'cultured cell' 'GM17231' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17231' SubClassOf 'has_quality' some 'male' http://www.orpha.net/ORDO/Orphanet_2676 Neuroectodermal-endocrine syndrome 'Neuroectodermal-endocrine syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Neuroectodermal-endocrine syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Neuroectodermal-endocrine syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Neuroectodermal-endocrine syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Neuroectodermal-endocrine syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015126 http://www.orpha.net/ORDO/Orphanet_1344 Atrial stand still 'Atrial stand still' SubClassOf 'Familial restrictive cardiomyopathy' 'Atrial stand still' SubClassOf 'Genetic cardiac rhythm disease' 'Atrial stand still' SubClassOf 'Familial restrictive cardiomyopathy' 'Atrial stand still' SubClassOf 'Genetic cardiac rhythm disease' http://www.orpha.net/ORDO/Orphanet_2674 Cyprus facial-neuromusculoskeletal syndrome 'Cyprus facial-neuromusculoskeletal syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Cyprus facial-neuromusculoskeletal syndrome' SubClassOf 'Genetic skeletal muscle disease' 'Cyprus facial-neuromusculoskeletal syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Cyprus facial-neuromusculoskeletal syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Cyprus facial-neuromusculoskeletal syndrome' SubClassOf 'Genetic skeletal muscle disease' http://purl.obolibrary.org/obo/HP_0004325 Decreased body weight 'Decreased body weight' SubClassOf 'abnormality of body weight' 'Decreased body weight' SubClassOf 'abnormality of body weight' http://www.orpha.net/ORDO/Orphanet_178145 Moderate multiminicore disease with hand involvement 'Moderate multiminicore disease with hand involvement' SubClassOf 'Multiminicore myopathy' 'Moderate multiminicore disease with hand involvement' SubClassOf 'Multiminicore myopathy' http://purl.obolibrary.org/obo/EO_0007173 warm/hot temperature regimen 'warm/hot temperature regimen' SubClassOf 'abiotic plant treatment' 'warm/hot temperature regimen' SubClassOf 'abiotic plant treatment' http://www.orpha.net/ORDO/Orphanet_178148 Antenatal multiminicore disease with arthrogryposis multiplex congenita 'Antenatal multiminicore disease with arthrogryposis multiplex congenita' SubClassOf 'Multiminicore myopathy' 'Antenatal multiminicore disease with arthrogryposis multiplex congenita' SubClassOf 'Multiminicore myopathy' http://purl.obolibrary.org/obo/CLO_0014356 GM17226 'GM17226' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17226' SubClassOf 'has_quality' some 'male' 'GM17226' SubClassOf 'cultured cell' http://www.orpha.net/ORDO/Orphanet_1350 Heart-hand syndrome type 2 'Heart-hand syndrome type 2' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Heart-hand syndrome type 2' SubClassOf 'Genetic cardiac rhythm disease' 'Heart-hand syndrome type 2' SubClassOf 'Heart-hand syndrome' 'Heart-hand syndrome type 2' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Heart-hand syndrome type 2' SubClassOf 'Genetic cardiac rhythm disease' 'Heart-hand syndrome type 2' SubClassOf 'Heart-hand syndrome' http://purl.obolibrary.org/obo/CLO_0014358 GM17227 'GM17227' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17227' SubClassOf 'has_quality' some 'male' 'GM17227' SubClassOf 'cultured cell' http://purl.obolibrary.org/obo/CLO_0014359 GM17228 'GM17228' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17228' SubClassOf 'cultured cell' 'GM17228' SubClassOf 'has_quality' some 'male' http://www.orpha.net/ORDO/Orphanet_2680 Hypomyelination neuropathy - arthrogryposis 'Hypomyelination neuropathy - arthrogryposis' SubClassOf 'Arthrogryposis multiplex congenita' 'Hypomyelination neuropathy - arthrogryposis' SubClassOf 'Arthrogryposis multiplex congenita' http://www.orpha.net/ORDO/Orphanet_1358 Carey-Fineman-Ziter syndrome 'Carey-Fineman-Ziter syndrome' SubClassOf 'Orofacial clefting syndrome' 'Carey-Fineman-Ziter syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007 'Carey-Fineman-Ziter syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 'Carey-Fineman-Ziter syndrome' SubClassOf 'Orofacial clefting syndrome' http://www.orpha.net/ORDO/Orphanet_1359 Carney complex 'Carney complex' SubClassOf 'skin neoplasm' 'Carney complex' SubClassOf 'disease has feature' some 'Multiple polyglandular tumor' 'Carney complex' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017820 'Carney complex' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 'Carney complex' SubClassOf 'disease has feature' some 'Genetic cardiac tumor' 'Carney complex' SubClassOf 'disease has feature' some 'Genetic hyperpigmentation of the skin' 'Carney complex' SubClassOf 'disease has feature' some 'Palpebral lentiginosis' 'Carney complex' SubClassOf 'disease has feature' some http://purl.obolibrary.org/obo/MONDO_0015077 'Carney complex' SubClassOf 'disease has feature' some 'Mesenchymatous palpebral tumor' http://www.orpha.net/ORDO/Orphanet_1354 Heart defects - limb shortening 'Heart defects - limb shortening' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Heart defects - limb shortening' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Heart defects - limb shortening' SubClassOf 'congenital heart disease' 'Heart defects - limb shortening' SubClassOf 'autosomal recessive disease' http://www.orpha.net/ORDO/Orphanet_2686 Cyclic neutropenia 'Cyclic neutropenia' SubClassOf 'Constitutional neutropenia' 'Cyclic neutropenia' SubClassOf 'Constitutional neutropenia' http://www.orpha.net/ORDO/Orphanet_1355 Heart defect - round face - congenital developmental delay 'Heart defect - round face - congenital developmental delay' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Heart defect - round face - congenital developmental delay' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Heart defect - round face - congenital developmental delay' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Heart defect - round face - congenital developmental delay' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 http://purl.obolibrary.org/obo/EO_0007165 growth hormone treatment 'growth hormone treatment' SubClassOf 'chemical treatment' 'growth hormone treatment' SubClassOf 'chemical treatment' http://purl.obolibrary.org/obo/EO_0007162 continuous light regimen 'continuous light regimen' SubClassOf 'light quantity regimen' 'continuous light regimen' SubClassOf 'light quantity regimen' http://www.orpha.net/ORDO/Orphanet_1361 Carnosinemia 'Carnosinemia' SubClassOf 'Disorder of peptide metabolism' 'Carnosinemia' SubClassOf 'Homocarnosinosis' http://purl.obolibrary.org/obo/CLO_0014327 GM17239 'GM17239' SubClassOf 'cultured cell' 'GM17239' SubClassOf 'has_quality' some 'female' 'GM17239' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://www.orpha.net/ORDO/Orphanet_2690 Neutropenia - monocytopenia - deafness 'Neutropenia - monocytopenia - deafness' SubClassOf 'Constitutional neutropenia with extra-haematopoietic manifestations' 'Neutropenia - monocytopenia - deafness' SubClassOf 'Syndromic genetic deafness' 'Neutropenia - monocytopenia - deafness' SubClassOf 'Constitutional neutropenia with extra-haematopoietic manifestations' 'Neutropenia - monocytopenia - deafness' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_1369 Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy 'Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy' SubClassOf 'Mitochondrial substrate carrier disorder' 'Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy' SubClassOf 'Cardiac disease with cataract' 'Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy' SubClassOf 'Mitochondrial disease with hypertrophic cardiomyopathy' 'Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy' SubClassOf 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement' 'Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy' SubClassOf 'Mitochondrial DNA depletion syndrome' 'Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy' SubClassOf 'Mitochondrial substrate carrier disorder' 'Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy' SubClassOf 'Cardiac disease with cataract' 'Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy' SubClassOf 'Mitochondrial disease with hypertrophic cardiomyopathy' 'Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy' SubClassOf 'Rare syndromic dyslipidemia' 'Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy' SubClassOf 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement' http://www.orpha.net/ORDO/Orphanet_2699 Median nodule of the upper lip 'Median nodule of the upper lip' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Median nodule of the upper lip' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_1368 Cataract - ataxia - deafness 'Cataract - ataxia - deafness' SubClassOf 'Syndromic genetic deafness' 'Cataract - ataxia - deafness' SubClassOf 'Syndromic genetic deafness' 'Cataract - ataxia - deafness' SubClassOf 'hereditary ataxia' http://www.orpha.net/ORDO/Orphanet_2698 Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome 'Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome' SubClassOf 'Syndromic genetic deafness' 'Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome' SubClassOf 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' 'Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome' SubClassOf 'Syndromic genetic deafness' 'Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome' SubClassOf 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' http://www.orpha.net/ORDO/Orphanet_2697 Arthrogryposis - renal dysfunction - cholestasis 'Arthrogryposis - renal dysfunction - cholestasis' SubClassOf 'Disorder of bilirubin metabolism and excretion' 'Arthrogryposis - renal dysfunction - cholestasis' SubClassOf 'Autosomal ichthyosis syndrome with fatal disease course' 'Arthrogryposis - renal dysfunction - cholestasis' SubClassOf 'Arthrogryposis multiplex congenita' 'Arthrogryposis - renal dysfunction - cholestasis' SubClassOf 'Syndromic renal or urinary tract malformation' 'Arthrogryposis - renal dysfunction - cholestasis' SubClassOf 'Neurogenic arthrogryposis multiplex congenita' 'Arthrogryposis - renal dysfunction - cholestasis' SubClassOf 'Disorder of bilirubin metabolism and excretion' 'Arthrogryposis - renal dysfunction - cholestasis' SubClassOf 'Developmental anomaly of metabolic origin' 'Arthrogryposis - renal dysfunction - cholestasis' SubClassOf 'Autosomal ichthyosis syndrome with fatal disease course' 'Arthrogryposis - renal dysfunction - cholestasis' SubClassOf 'Syndromic renal or urinary tract malformation' http://www.orpha.net/ORDO/Orphanet_1366 Autosomal recessive palmoplantar keratoderma and congenital alopecia 'Autosomal recessive palmoplantar keratoderma and congenital alopecia' SubClassOf 'Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature' 'Autosomal recessive palmoplantar keratoderma and congenital alopecia' SubClassOf 'Ectodermal dysplasia syndrome' 'Autosomal recessive palmoplantar keratoderma and congenital alopecia' SubClassOf 'Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature' 'Autosomal recessive palmoplantar keratoderma and congenital alopecia' SubClassOf 'Ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/HP_0003011 abnormality of the musculature 'abnormality of the musculature' EquivalentTo 'has part' some ('quality' and ('has component' some 'abnormal') and ('inheres in part of' some 'musculature')) http://purl.obolibrary.org/obo/CLO_0014334 GM17235 'GM17235' SubClassOf 'has_quality' some 'male' 'GM17235' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17235' SubClassOf 'cultured cell' http://purl.obolibrary.org/obo/CLO_0016995 GM17733 'GM17733' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17733' SubClassOf 'has_quality' some 'female' 'GM17733' SubClassOf 'cultured cell' http://www.orpha.net/ORDO/Orphanet_1375 Cataract - hypertrichosis - intellectual disability 'Cataract - hypertrichosis - intellectual disability' SubClassOf 'Ectodermal dysplasia syndrome' 'Cataract - hypertrichosis - intellectual disability' SubClassOf 'Syndromic developmental defect of the eye' 'Cataract - hypertrichosis - intellectual disability' SubClassOf 'Hypertrichosis' 'Cataract - hypertrichosis - intellectual disability' SubClassOf 'Syndromic cataract' 'Cataract - hypertrichosis - intellectual disability' SubClassOf 'Ectodermal dysplasia syndrome' 'Cataract - hypertrichosis - intellectual disability' SubClassOf 'Hypertrichosis' 'Cataract - hypertrichosis - intellectual disability' SubClassOf 'Syndromic developmental defect of the eye' 'Cataract - hypertrichosis - intellectual disability' SubClassOf 'Syndromic cataract' 'Cataract - hypertrichosis - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 http://purl.obolibrary.org/obo/CLO_0014336 GM17236 'GM17236' SubClassOf 'has_quality' some 'female' 'GM17236' SubClassOf 'cultured cell' 'GM17236' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://www.orpha.net/ORDO/Orphanet_1373 Cataract - aberrant oral frenula - growth delay 'Cataract - aberrant oral frenula - growth delay' SubClassOf 'Syndromic developmental defect of the eye' 'Cataract - aberrant oral frenula - growth delay' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Cataract - aberrant oral frenula - growth delay' SubClassOf 'Syndromic cataract' 'Cataract - aberrant oral frenula - growth delay' SubClassOf 'Syndromic developmental defect of the eye' 'Cataract - aberrant oral frenula - growth delay' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Cataract - aberrant oral frenula - growth delay' SubClassOf 'Rare genetic neurological disorder' 'Cataract - aberrant oral frenula - growth delay' SubClassOf 'Syndromic cataract' http://purl.obolibrary.org/obo/CLO_0014338 GM17233 'GM17233' SubClassOf 'has_quality' some 'female' 'GM17233' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17233' SubClassOf 'cultured cell' http://purl.obolibrary.org/obo/CHEBI_45441 N-acetyl-L-serine 'N-acetyl-L-serine' SubClassOf 'chemical entity' 'N-acetyl-L-serine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CLO_0014330 GM17237 'GM17237' SubClassOf 'has_quality' some 'male' 'GM17237' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17237' SubClassOf 'cultured cell' http://www.orpha.net/ORDO/Orphanet_1376 Congenital cataract - ichthyosis 'Congenital cataract - ichthyosis' SubClassOf 'Autosomal ichthyosis syndrome with other associated signs' 'Congenital cataract - ichthyosis' SubClassOf 'Syndromic developmental defect of the eye' 'Congenital cataract - ichthyosis' SubClassOf 'Dentocutaneous disease with cataract' 'Congenital cataract - ichthyosis' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'Congenital cataract - ichthyosis' SubClassOf 'Autosomal ichthyosis syndrome with other associated signs' 'Congenital cataract - ichthyosis' SubClassOf 'Syndromic developmental defect of the eye' 'Congenital cataract - ichthyosis' SubClassOf 'Dentocutaneous disease with cataract' 'Congenital cataract - ichthyosis' SubClassOf 'Rare genetic neurological disorder' http://purl.obolibrary.org/obo/CLO_0014332 GM17238 'GM17238' SubClassOf 'has_quality' some 'female' 'GM17238' SubClassOf 'cultured cell' 'GM17238' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://www.orpha.net/ORDO/Orphanet_1377 Cataract-microcornea syndrome 'Cataract-microcornea syndrome' SubClassOf 'Syndromic cataract' 'Cataract-microcornea syndrome' SubClassOf 'Syndromic cataract' 'Cataract-microcornea syndrome' SubClassOf 'Syndromic developmental defect of the eye' http://www.ebi.ac.uk/efo/EFO_1000183 Colon Dysplasia 'Colon Dysplasia' SubClassOf 'digestive system disease' 'Colon Dysplasia' SubClassOf 'has_disease_location' some ('colon' or ('part_of' some 'colon')) 'Colon Dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003409 'Colon Dysplasia' SubClassOf 'digestive system disease' http://www.ebi.ac.uk/efo/EFO_1000184 Colon Inflammatory Polyp 'Colon Inflammatory Polyp' SubClassOf 'polyp' 'Colon Inflammatory Polyp' SubClassOf 'colonic neoplasm' 'Colon Inflammatory Polyp' SubClassOf 'polyp' 'Colon Inflammatory Polyp' SubClassOf 'has_disease_location' some ('colon' or ('part_of' some 'colon')) 'Colon Inflammatory Polyp' SubClassOf 'colonic neoplasm' 'Colon Inflammatory Polyp' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021400 http://www.ebi.ac.uk/efo/EFO_1000181 Clear Cell Papillary Cystadenoma 'Clear Cell Papillary Cystadenoma' SubClassOf 'adenoma' 'Clear Cell Papillary Cystadenoma' SubClassOf 'adenoma' 'Clear Cell Papillary Cystadenoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021091 'Clear Cell Papillary Cystadenoma' SubClassOf 'has_disease_location' some 'clear cell' http://www.ebi.ac.uk/efo/EFO_1000182 Colon Burkitt Lymphoma 'Colon Burkitt Lymphoma' SubClassOf 'colonic neoplasm' 'Colon Burkitt Lymphoma' SubClassOf 'Burkitts lymphoma' 'Colon Burkitt Lymphoma' SubClassOf 'colonic neoplasm' 'Colon Burkitt Lymphoma' SubClassOf 'Burkitts lymphoma' 'Colon Burkitt Lymphoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002035 'Colon Burkitt Lymphoma' SubClassOf 'has_disease_location' some ('colon' or ('part_of' some 'colon')) 'Colon Burkitt Lymphoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000621 http://www.ebi.ac.uk/efo/EFO_1000180 Clear Cell Meningioma 'Clear Cell Meningioma' SubClassOf 'Meningioma' 'Clear Cell Meningioma' SubClassOf 'Meningioma' 'Clear Cell Meningioma' SubClassOf 'has_disease_location' some ('meninx' or ('part_of' some 'meninx')) http://www.orpha.net/ORDO/Orphanet_1305 Feingold syndrome 'Feingold syndrome' SubClassOf 'Genetic syndromic esophageal malformation' 'Feingold syndrome' SubClassOf 'Syndrome with brachydactyly' 'Feingold syndrome' SubClassOf 'Syndromic gastroduodenal malformation' 'Feingold syndrome' SubClassOf 'Non-syndromic gastroduodenal malformation' 'Feingold syndrome' SubClassOf 'Genetic syndromic esophageal malformation' 'Feingold syndrome' SubClassOf 'Syndrome with brachydactyly' 'Feingold syndrome' SubClassOf 'Syndromic gastroduodenal malformation' 'Feingold syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015222 'Feingold syndrome' SubClassOf 'Non-syndromic esophageal malformation' 'Feingold syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007 'Feingold syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 http://www.orpha.net/ORDO/Orphanet_2637 Microcephalic osteodysplastic primordial dwarfism type II 'Microcephalic osteodysplastic primordial dwarfism type II' SubClassOf 'Microcephalic primordial dwarfism' 'Microcephalic osteodysplastic primordial dwarfism type II' SubClassOf 'Syndromic obesity' 'Microcephalic osteodysplastic primordial dwarfism type II' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000060 'Microcephalic osteodysplastic primordial dwarfism type II' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018792 'Microcephalic osteodysplastic primordial dwarfism type II' SubClassOf 'osteochondrodysplasia' 'Microcephalic osteodysplastic primordial dwarfism type II' SubClassOf 'Microcephalic primordial dwarfism' 'Microcephalic osteodysplastic primordial dwarfism type II' SubClassOf 'Syndromic obesity' http://www.orpha.net/ORDO/Orphanet_1306 Buschke-Ollendorff syndrome 'Buschke-Ollendorff syndrome' SubClassOf 'Osteopetrosis' 'Buschke-Ollendorff syndrome' SubClassOf 'Genetic dermis elastic tissue disorder' 'Buschke-Ollendorff syndrome' SubClassOf 'Osteopetrosis' 'Buschke-Ollendorff syndrome' SubClassOf 'Genetic dermis elastic tissue disorder' 'Buschke-Ollendorff syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021106 'Buschke-Ollendorff syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 http://www.orpha.net/ORDO/Orphanet_2636 Microcephalic osteodysplastic primordial dwarfism types I and III 'Microcephalic osteodysplastic primordial dwarfism types I and III' SubClassOf 'Microcephalic primordial dwarfism' 'Microcephalic osteodysplastic primordial dwarfism types I and III' SubClassOf 'Microcephalic primordial dwarfism' http://www.ebi.ac.uk/efo/EFO_1000189 Colon Sessile Serrated Adenoma/Polyp 'Colon Sessile Serrated Adenoma/Polyp' SubClassOf 'colonic neoplasm' 'Colon Sessile Serrated Adenoma/Polyp' SubClassOf 'colorectal neoplasm' 'Colon Sessile Serrated Adenoma/Polyp' SubClassOf 'polyp' 'Colon Sessile Serrated Adenoma/Polyp' SubClassOf 'has_disease_location' some ('colon' or ('part_of' some 'colon')) 'Colon Sessile Serrated Adenoma/Polyp' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021400 'Colon Sessile Serrated Adenoma/Polyp' SubClassOf 'Colorectal Sessile Serrated Adenoma/Polyp' 'Colon Sessile Serrated Adenoma/Polyp' SubClassOf 'colorectal neoplasm' 'Colon Sessile Serrated Adenoma/Polyp' SubClassOf 'polyp' 'Colon Sessile Serrated Adenoma/Polyp' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000527 http://www.orpha.net/ORDO/Orphanet_166119 Isolated osteopoikilosis 'Isolated osteopoikilosis' SubClassOf 'Osteopetrosis' 'Isolated osteopoikilosis' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021128 'Isolated osteopoikilosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001414 'Isolated osteopoikilosis' SubClassOf 'Buschke-Ollendorff syndrome' 'Isolated osteopoikilosis' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0001414 and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021128) http://www.orpha.net/ORDO/Orphanet_2635 Metatropic dysplasia 'Metatropic dysplasia' SubClassOf 'TRPV4-related bone disorder' 'Metatropic dysplasia' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Metatropic dysplasia' SubClassOf 'TRPV4-related bone disorder' 'Metatropic dysplasia' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_2634 Mesomelic dwarfism, Reinhardt-Pfeiffer type 'Mesomelic dwarfism, Reinhardt-Pfeiffer type' SubClassOf 'Mesomelic and rhizo-mesomelic dysplasia' 'Mesomelic dwarfism, Reinhardt-Pfeiffer type' SubClassOf 'Mesomelic and rhizo-mesomelic dysplasia' http://www.ebi.ac.uk/efo/EFO_1000187 obsolete_colon neoplasm 'obsolete_colon neoplasm' SubClassOf 'obsolete class' 'obsolete_colon neoplasm' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_166113 Bazex syndrome 'Bazex syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Bazex syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019546 'Bazex syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Bazex syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 http://www.orpha.net/ORDO/Orphanet_2633 Mesomelic dwarfism, Nievergelt type 'Mesomelic dwarfism, Nievergelt type' SubClassOf 'Mesomelic and rhizo-mesomelic dysplasia' 'Mesomelic dwarfism, Nievergelt type' SubClassOf 'Mesomelic and rhizo-mesomelic dysplasia' http://www.orpha.net/ORDO/Orphanet_34515 Autosomal recessive limb-girdle muscular dystrophy type 2I 'Autosomal recessive limb-girdle muscular dystrophy type 2I' SubClassOf 'Disorder of O-mannosylglycan synthesis' 'Autosomal recessive limb-girdle muscular dystrophy type 2I' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' 'Autosomal recessive limb-girdle muscular dystrophy type 2I' SubClassOf 'Qualitative or quantitative defects of FKRP' 'Autosomal recessive limb-girdle muscular dystrophy type 2I' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 'Autosomal recessive limb-girdle muscular dystrophy type 2I' SubClassOf 'Disorder of O-mannosylglycan synthesis' 'Autosomal recessive limb-girdle muscular dystrophy type 2I' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' 'Autosomal recessive limb-girdle muscular dystrophy type 2I' SubClassOf 'Qualitative or quantitative defects of FKRP' 'Autosomal recessive limb-girdle muscular dystrophy type 2I' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' http://www.ebi.ac.uk/efo/EFO_1000188 Colon Neuroendocrine Tumor G1 'Colon Neuroendocrine Tumor G1' SubClassOf 'colonic neoplasm' 'Colon Neuroendocrine Tumor G1' SubClassOf 'endocrine neoplasm' 'Colon Neuroendocrine Tumor G1' SubClassOf 'colorectal neoplasm' 'Colon Neuroendocrine Tumor G1' SubClassOf 'endocrine neoplasm' 'Colon Neuroendocrine Tumor G1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015067 'Colon Neuroendocrine Tumor G1' SubClassOf 'has_disease_location' some ('colon' or ('part_of' some 'colon')) 'Colon Neuroendocrine Tumor G1' SubClassOf 'colorectal neoplasm' 'Colon Neuroendocrine Tumor G1' SubClassOf 'Colorectal Neuroendocrine Tumor G1' http://www.orpha.net/ORDO/Orphanet_2632 Langer mesomelic dysplasia 'Langer mesomelic dysplasia' SubClassOf 'Mesomelic and rhizo-mesomelic dysplasia' 'Langer mesomelic dysplasia' SubClassOf 'Mesomelic and rhizo-mesomelic dysplasia' http://www.orpha.net/ORDO/Orphanet_34514 Autosomal recessive limb-girdle muscular dystrophy type 2G 'Autosomal recessive limb-girdle muscular dystrophy type 2G' SubClassOf 'Qualitative or quantitative defects of telethonin' 'Autosomal recessive limb-girdle muscular dystrophy type 2G' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' 'Autosomal recessive limb-girdle muscular dystrophy type 2G' SubClassOf 'Qualitative or quantitative defects of telethonin' 'Autosomal recessive limb-girdle muscular dystrophy type 2G' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' http://www.ebi.ac.uk/efo/EFO_1000185 Colon Juvenile Polyp 'Colon Juvenile Polyp' SubClassOf 'polyp' 'Colon Juvenile Polyp' SubClassOf 'colonic neoplasm' 'Colon Juvenile Polyp' SubClassOf 'polyp' 'Colon Juvenile Polyp' SubClassOf 'has_disease_location' some ('colon' or ('part_of' some 'colon')) 'Colon Juvenile Polyp' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021400 'Colon Juvenile Polyp' SubClassOf 'Colorectal Juvenile Polyp' http://www.orpha.net/ORDO/Orphanet_2631 Mesomelic dwarfism - cleft palate - camptodactyly 'Mesomelic dwarfism - cleft palate - camptodactyly' SubClassOf 'Orofacial clefting syndrome' 'Mesomelic dwarfism - cleft palate - camptodactyly' SubClassOf 'Mesomelic and rhizo-mesomelic dysplasia' 'Mesomelic dwarfism - cleft palate - camptodactyly' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Mesomelic dwarfism - cleft palate - camptodactyly' SubClassOf 'Mesomelic and rhizo-mesomelic dysplasia' 'Mesomelic dwarfism - cleft palate - camptodactyly' SubClassOf 'Orofacial clefting syndrome' 'Mesomelic dwarfism - cleft palate - camptodactyly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 'Mesomelic dwarfism - cleft palate - camptodactyly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 'Mesomelic dwarfism - cleft palate - camptodactyly' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.ebi.ac.uk/efo/EFO_1000186 Colon Mucosa-Associated Lymphoid Tissue Lymphoma 'Colon Mucosa-Associated Lymphoid Tissue Lymphoma' SubClassOf 'colonic neoplasm' 'Colon Mucosa-Associated Lymphoid Tissue Lymphoma' SubClassOf 'lymphoma' 'Colon Mucosa-Associated Lymphoid Tissue Lymphoma' SubClassOf 'has_disease_location' some ('colon' or ('part_of' some 'colon')) 'Colon Mucosa-Associated Lymphoid Tissue Lymphoma' SubClassOf 'colonic neoplasm' 'Colon Mucosa-Associated Lymphoid Tissue Lymphoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002035 'Colon Mucosa-Associated Lymphoid Tissue Lymphoma' SubClassOf 'lymphoma' http://www.orpha.net/ORDO/Orphanet_1300 Autosomal dominant popliteal pterygium syndrome 'Autosomal dominant popliteal pterygium syndrome' SubClassOf 'Syndromic ankyloblepharon' 'Autosomal dominant popliteal pterygium syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Autosomal dominant popliteal pterygium syndrome' SubClassOf 'Popliteal pterygium syndrome' 'Autosomal dominant popliteal pterygium syndrome' SubClassOf 'Syndromic ankyloblepharon' 'Autosomal dominant popliteal pterygium syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 'Autosomal dominant popliteal pterygium syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 'Autosomal dominant popliteal pterygium syndrome' SubClassOf 'Popliteal pterygium syndrome' 'Autosomal dominant popliteal pterygium syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Autosomal dominant popliteal pterygium syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007 http://www.orpha.net/ORDO/Orphanet_216820 Osteogenesis imperfecta type 4 'Osteogenesis imperfecta type 4' SubClassOf 'Osteogenesis imperfecta' 'Osteogenesis imperfecta type 4' SubClassOf 'Rare disease with dentinogenesis imperfecta' 'Osteogenesis imperfecta type 4' SubClassOf 'Osteogenesis imperfecta' 'Osteogenesis imperfecta type 4' SubClassOf 'Rare disease with dentinogenesis imperfecta' http://www.orpha.net/ORDO/Orphanet_216828 Osteogenesis imperfecta type 5 'Osteogenesis imperfecta type 5' SubClassOf 'Osteogenesis imperfecta' 'Osteogenesis imperfecta type 5' SubClassOf 'Osteogenesis imperfecta' http://www.ebi.ac.uk/efo/EFO_1000194 Colorectal Juvenile Polyp 'Colorectal Juvenile Polyp' SubClassOf 'polyp' 'Colorectal Juvenile Polyp' SubClassOf 'digestive system disease' 'Colorectal Juvenile Polyp' SubClassOf 'colorectal neoplasm' 'Colorectal Juvenile Polyp' SubClassOf 'has_disease_location' some ('gastrointestinal system' or ('part_of' some 'gastrointestinal system')) 'Colorectal Juvenile Polyp' SubClassOf 'polyp' 'Colorectal Juvenile Polyp' SubClassOf 'Juvenile Polyp' 'Colorectal Juvenile Polyp' SubClassOf 'Colorectal Hamartoma' 'Colorectal Juvenile Polyp' SubClassOf 'colorectal neoplasm' http://www.ebi.ac.uk/efo/EFO_1000195 Colorectal Neuroendocrine Tumor G1 'Colorectal Neuroendocrine Tumor G1' SubClassOf 'colorectal neoplasm' 'Colorectal Neuroendocrine Tumor G1' SubClassOf 'endocrine neoplasm' 'Colorectal Neuroendocrine Tumor G1' SubClassOf 'has_disease_location' some ('rectum' or ('part_of' some 'rectum')) 'Colorectal Neuroendocrine Tumor G1' SubClassOf 'colorectal neoplasm' 'Colorectal Neuroendocrine Tumor G1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021533 'Colorectal Neuroendocrine Tumor G1' SubClassOf 'endocrine neoplasm' 'Colorectal Neuroendocrine Tumor G1' SubClassOf 'has_disease_location' some ('colon' or ('part_of' some 'colon')) http://www.ebi.ac.uk/efo/EFO_1000192 Colorectal Gastrointestinal Stromal Tumor 'Colorectal Gastrointestinal Stromal Tumor' SubClassOf 'colorectal neoplasm' 'Colorectal Gastrointestinal Stromal Tumor' SubClassOf 'digestive system disease' 'Colorectal Gastrointestinal Stromal Tumor' SubClassOf 'has_disease_location' some ('gastrointestinal system' or ('part_of' some 'gastrointestinal system')) 'Colorectal Gastrointestinal Stromal Tumor' SubClassOf 'colorectal neoplasm' http://www.orpha.net/ORDO/Orphanet_166100 Stickler syndrome type 3 'Stickler syndrome type 3' SubClassOf 'Pierre Robin syndrome associated with collagen disease' 'Stickler syndrome type 3' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Stickler syndrome type 3' SubClassOf 'Type 11 collagen-related bone disorder' 'Stickler syndrome type 3' SubClassOf 'Orofacial clefting syndrome' 'Stickler syndrome type 3' SubClassOf 'Syndromic genetic deafness' 'Stickler syndrome type 3' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Stickler syndrome type 3' SubClassOf 'Stickler syndrome' 'Stickler syndrome type 3' SubClassOf 'Type 11 collagen-related bone disorder' 'Stickler syndrome type 3' SubClassOf 'Orofacial clefting syndrome' 'Stickler syndrome type 3' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.ebi.ac.uk/efo/EFO_1000193 Colorectal Hamartoma 'Colorectal Hamartoma' SubClassOf 'polyp' 'Colorectal Hamartoma' SubClassOf 'polyp' 'Colorectal Hamartoma' SubClassOf 'has_disease_location' some ('rectum' or ('part_of' some 'rectum')) 'Colorectal Hamartoma' SubClassOf 'Gastrointestinal Hamartoma' 'Colorectal Hamartoma' SubClassOf 'has_disease_location' some ('colon' or ('part_of' some 'colon')) 'Colorectal Hamartoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021392 http://www.ebi.ac.uk/efo/EFO_1000190 Colorectal Adenosquamous Carcinoma 'Colorectal Adenosquamous Carcinoma' SubClassOf 'colorectal neoplasm' 'Colorectal Adenosquamous Carcinoma' SubClassOf 'digestive system disease' 'Colorectal Adenosquamous Carcinoma' SubClassOf 'has_disease_location' some ('gastrointestinal system' or ('part_of' some 'gastrointestinal system')) 'Colorectal Adenosquamous Carcinoma' SubClassOf 'colorectal neoplasm' 'Colorectal Adenosquamous Carcinoma' SubClassOf 'Colorectal Squamous Cell Carcinoma' 'Colorectal Adenosquamous Carcinoma' SubClassOf 'Adenosquamous Carcinoma' http://www.ebi.ac.uk/efo/EFO_1000191 Colorectal Diffuse Large B-Cell Lymphoma 'Colorectal Diffuse Large B-Cell Lymphoma' SubClassOf 'digestive system disease' 'Colorectal Diffuse Large B-Cell Lymphoma' SubClassOf 'colorectal neoplasm' 'Colorectal Diffuse Large B-Cell Lymphoma' SubClassOf 'diffuse large B-cell lymphoma' 'Colorectal Diffuse Large B-Cell Lymphoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024656 'Colorectal Diffuse Large B-Cell Lymphoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000621 'Colorectal Diffuse Large B-Cell Lymphoma' SubClassOf 'has_disease_location' some 'lymphocyte of B lineage' 'Colorectal Diffuse Large B-Cell Lymphoma' SubClassOf 'has_disease_location' some ('gastrointestinal system' or ('part_of' some 'gastrointestinal system')) 'Colorectal Diffuse Large B-Cell Lymphoma' SubClassOf 'diffuse large B-cell lymphoma' 'Colorectal Diffuse Large B-Cell Lymphoma' SubClassOf 'colorectal neoplasm' http://www.orpha.net/ORDO/Orphanet_166105 FASTKD2-related infantile mitochondrial encephalomyopathy 'FASTKD2-related infantile mitochondrial encephalomyopathy' SubClassOf 'Neurometabolic disease' 'FASTKD2-related infantile mitochondrial encephalomyopathy' SubClassOf 'Mitochondrial oxidative phosphorylation disorder with no known mechanism' 'FASTKD2-related infantile mitochondrial encephalomyopathy' SubClassOf 'Neurometabolic disease' 'FASTKD2-related infantile mitochondrial encephalomyopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'FASTKD2-related infantile mitochondrial encephalomyopathy' SubClassOf 'Mitochondrial oxidative phosphorylation disorder with no known mechanism' http://www.orpha.net/ORDO/Orphanet_2646 Parastremmatic dwarfism 'Parastremmatic dwarfism' SubClassOf 'Bent bone dysplasia' 'Parastremmatic dwarfism' SubClassOf 'TRPV4-related bone disorder' 'Parastremmatic dwarfism' SubClassOf 'Bent bone dysplasia' 'Parastremmatic dwarfism' SubClassOf 'TRPV4-related bone disorder' http://www.orpha.net/ORDO/Orphanet_2645 Osteoglophonic dwarfism 'Osteoglophonic dwarfism' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'Osteoglophonic dwarfism' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' http://www.ebi.ac.uk/efo/EFO_1000198 Colorectal Squamous Cell Carcinoma 'Colorectal Squamous Cell Carcinoma' SubClassOf 'colorectal neoplasm' 'Colorectal Squamous Cell Carcinoma' SubClassOf 'digestive system disease' 'Colorectal Squamous Cell Carcinoma' SubClassOf 'squamous cell carcinoma' 'Colorectal Squamous Cell Carcinoma' SubClassOf 'has_disease_location' some ('gastrointestinal system' or ('part_of' some 'gastrointestinal system')) 'Colorectal Squamous Cell Carcinoma' SubClassOf 'colorectal carcinoma' 'Colorectal Squamous Cell Carcinoma' SubClassOf 'colorectal neoplasm' 'Colorectal Squamous Cell Carcinoma' SubClassOf 'squamous cell carcinoma' http://www.ebi.ac.uk/efo/EFO_1000199 Columnar Cell Hyperplasia of the Breast 'Columnar Cell Hyperplasia of the Breast' SubClassOf 'hyperplasia' 'Columnar Cell Hyperplasia of the Breast' SubClassOf 'breast neoplasm' 'Columnar Cell Hyperplasia of the Breast' SubClassOf 'hyperplasia' 'Columnar Cell Hyperplasia of the Breast' SubClassOf 'breast neoplasm' 'Columnar Cell Hyperplasia of the Breast' SubClassOf 'has_disease_location' some ('breast' or ('part_of' some 'breast')) http://www.orpha.net/ORDO/Orphanet_2643 Microcephalic primordial dwarfism, Toriello type 'Microcephalic primordial dwarfism, Toriello type' SubClassOf 'Microcephalic primordial dwarfism' 'Microcephalic primordial dwarfism, Toriello type' SubClassOf 'Microcephalic primordial dwarfism' http://www.ebi.ac.uk/efo/EFO_1000196 Colorectal Serrated Adenocarcinoma 'Colorectal Serrated Adenocarcinoma' SubClassOf 'colorectal adenocarcinoma' 'Colorectal Serrated Adenocarcinoma' SubClassOf 'colorectal adenocarcinoma' 'Colorectal Serrated Adenocarcinoma' SubClassOf 'has_disease_location' some ('gastrointestinal system' or ('part_of' some 'gastrointestinal system')) http://www.orpha.net/ORDO/Orphanet_1310 Caffey disease 'Caffey disease' SubClassOf 'Neonatal osteosclerotic dysplasia' 'Caffey disease' SubClassOf 'bone disease' 'Caffey disease' SubClassOf 'Neonatal osteosclerotic dysplasia' 'Caffey disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002614 'Caffey disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002185 http://www.ebi.ac.uk/efo/EFO_1000197 Colorectal Sessile Serrated Adenoma/Polyp 'Colorectal Sessile Serrated Adenoma/Polyp' SubClassOf 'colorectal adenoma' 'Colorectal Sessile Serrated Adenoma/Polyp' SubClassOf 'has_disease_location' some ('gastrointestinal system' or ('part_of' some 'gastrointestinal system')) 'Colorectal Sessile Serrated Adenoma/Polyp' SubClassOf 'colorectal adenoma' http://www.orpha.net/ORDO/Orphanet_2641 Micromelic dwarfism, Fryns type 'Micromelic dwarfism, Fryns type' SubClassOf 'Spondylometaphyseal dysplasia' 'Micromelic dwarfism, Fryns type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000844 'Micromelic dwarfism, Fryns type' SubClassOf 'Spondylometaphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_1309 Medullary sponge kidney 'Medullary sponge kidney' SubClassOf 'Genetic non-syndromic renal or urinary tract malformation' 'Medullary sponge kidney' SubClassOf 'Cystic Kidney Disease' 'Medullary sponge kidney' SubClassOf 'Genetic non-syndromic renal or urinary tract malformation' 'Medullary sponge kidney' SubClassOf 'Cystic Kidney Disease' http://purl.obolibrary.org/obo/CHEBI_32111 saccharin 'saccharin' SubClassOf 'benzothiadiazole' 'saccharin' SubClassOf 'benzothiadiazole' http://www.orpha.net/ORDO/Orphanet_1307 Distal limb deficiencies - micrognathia syndrome 'Distal limb deficiencies - micrognathia syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007 http://www.orpha.net/ORDO/Orphanet_1308 C syndrome 'C syndrome' SubClassOf 'Syndromic craniosynostosis' 'C syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'C syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'C syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'C syndrome' SubClassOf 'Syndromic craniosynostosis' 'C syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_371157 Congenital disorder of glycosylation with hepatic involvement 'Congenital disorder of glycosylation with hepatic involvement' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Congenital disorder of glycosylation with hepatic involvement' SubClassOf 'Congenital disorder of glycosylation' http://www.orpha.net/ORDO/Orphanet_216812 Osteogenesis imperfecta type 3 'Osteogenesis imperfecta type 3' SubClassOf 'Rare disease with dentinogenesis imperfecta' 'Osteogenesis imperfecta type 3' SubClassOf 'Osteogenesis imperfecta' 'Osteogenesis imperfecta type 3' SubClassOf 'Rare disease with dentinogenesis imperfecta' 'Osteogenesis imperfecta type 3' SubClassOf 'Osteogenesis imperfecta' http://www.orpha.net/ORDO/Orphanet_2650 Dwarfism - intellectual disability - eye abnormality 'Dwarfism - intellectual disability - eye abnormality' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003847 http://www.orpha.net/ORDO/Orphanet_1327 Camptodactyly syndrome, Guadalajara type 1 'Camptodactyly syndrome, Guadalajara type 1' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Camptodactyly syndrome, Guadalajara type 1' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Camptodactyly syndrome, Guadalajara type 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000111 http://www.orpha.net/ORDO/Orphanet_34533 Corneal dystrophy 'Corneal dystrophy' SubClassOf 'corneal disease' 'Corneal dystrophy' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Corneal dystrophy' SubClassOf 'corneal disease' http://www.orpha.net/ORDO/Orphanet_1328 Camurati-Engelmann disease 'Camurati-Engelmann disease' SubClassOf 'Primary bone dysplasia with increased bone density' 'Camurati-Engelmann disease' SubClassOf 'Primary bone dysplasia with increased bone density' 'Camurati-Engelmann disease' SubClassOf 'has_disease_location' some ('bone' or ('part_of' some 'bone')) 'Camurati-Engelmann disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Camurati-Engelmann disease' SubClassOf 'bone disease' http://www.orpha.net/ORDO/Orphanet_2658 Lenz-Majewski hyperostotic dwarfism 'Lenz-Majewski hyperostotic dwarfism' SubClassOf 'Primary bone dysplasia with increased bone density' 'Lenz-Majewski hyperostotic dwarfism' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Lenz-Majewski hyperostotic dwarfism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Lenz-Majewski hyperostotic dwarfism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Lenz-Majewski hyperostotic dwarfism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 'Lenz-Majewski hyperostotic dwarfism' SubClassOf 'Primary bone dysplasia with increased bone density' 'Lenz-Majewski hyperostotic dwarfism' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_1325 Camptodactyly - taurinuria 'Camptodactyly - taurinuria' SubClassOf 'Genetic syndrome with limb malformations as a major feature' 'Camptodactyly - taurinuria' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Camptodactyly - taurinuria' SubClassOf 'Genetic syndrome with limb malformations as a major feature' http://www.orpha.net/ORDO/Orphanet_1326 Camptodactyly syndrome, Guadalajara type 2 'Camptodactyly syndrome, Guadalajara type 2' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Camptodactyly syndrome, Guadalajara type 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000111 'Camptodactyly syndrome, Guadalajara type 2' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Camptodactyly syndrome, Guadalajara type 2' SubClassOf 'Genetic syndrome with limb reduction defects' http://www.orpha.net/ORDO/Orphanet_2655 Thanatophoric dysplasia 'Thanatophoric dysplasia' SubClassOf 'FGFR3-related chondrodysplasia' 'Thanatophoric dysplasia' SubClassOf 'Primary bone dysplasia with micromelia' 'Thanatophoric dysplasia' SubClassOf 'osteochondrodysplasia' 'Thanatophoric dysplasia' SubClassOf 'FGFR3-related chondrodysplasia' 'Thanatophoric dysplasia' SubClassOf 'Primary bone dysplasia with micromelia' http://www.orpha.net/ORDO/Orphanet_168796 Heart-hand syndrome, Slovenian type 'Heart-hand syndrome, Slovenian type' SubClassOf 'Heart-hand syndrome' 'Heart-hand syndrome, Slovenian type' SubClassOf 'Syndrome associated with dilated cardiomyopathy' 'Heart-hand syndrome, Slovenian type' SubClassOf 'Genetic cardiac rhythm disease' 'Heart-hand syndrome, Slovenian type' SubClassOf 'Syndrome associated with dilated cardiomyopathy' 'Heart-hand syndrome, Slovenian type' SubClassOf 'Holt-Oram syndrome' http://www.orpha.net/ORDO/Orphanet_2653 Osteochondrodysplatic nanism - deafness - retinitis pigmentosa 'Osteochondrodysplatic nanism - deafness - retinitis pigmentosa' SubClassOf 'Syndromic retinitis pigmentosa' 'Osteochondrodysplatic nanism - deafness - retinitis pigmentosa' SubClassOf 'Syndromic genetic deafness' 'Osteochondrodysplatic nanism - deafness - retinitis pigmentosa' SubClassOf 'Syndromic genetic deafness' 'Osteochondrodysplatic nanism - deafness - retinitis pigmentosa' SubClassOf 'Syndromic retinitis pigmentosa' http://www.orpha.net/ORDO/Orphanet_371188 Congenital disorder of glycosylation with intestinal involvement 'Congenital disorder of glycosylation with intestinal involvement' SubClassOf 'Metabolic disease with intestinal involvement' 'Congenital disorder of glycosylation with intestinal involvement' SubClassOf 'Congenital disorder of glycosylation' 'Congenital disorder of glycosylation with intestinal involvement' SubClassOf 'Metabolic disease with intestinal involvement' http://www.orpha.net/ORDO/Orphanet_34528 Autosomal dominant primary hypomagnesemia with hypocalciuria 'Autosomal dominant primary hypomagnesemia with hypocalciuria' SubClassOf 'Familial primary hypomagnesemia with hypocalcuria' 'Autosomal dominant primary hypomagnesemia with hypocalciuria' SubClassOf 'Familial primary hypomagnesemia with hypocalcuria' http://www.orpha.net/ORDO/Orphanet_34527 Familial primary hypomagnesemia with normocalciuria and normocalcemia 'Familial primary hypomagnesemia with normocalciuria and normocalcemia' SubClassOf 'Familial primary hypomagnesemia with normocalcuria' 'Familial primary hypomagnesemia with normocalciuria and normocalcemia' SubClassOf 'Familial primary hypomagnesemia with normocalcuria' http://www.orpha.net/ORDO/Orphanet_35858 Gräsbeck-Imerslund disease 'Gräsbeck-Imerslund disease' SubClassOf 'Disorder of cobalamin metabolism and transport' 'Gräsbeck-Imerslund disease' SubClassOf 'Intestinal disease due to vitamin absorption anomaly' 'Gräsbeck-Imerslund disease' SubClassOf 'Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder' 'Gräsbeck-Imerslund disease' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'Gräsbeck-Imerslund disease' SubClassOf 'Disorder of cobalamin metabolism and transport' 'Gräsbeck-Imerslund disease' SubClassOf 'Intestinal disease due to vitamin absorption anomaly' 'Gräsbeck-Imerslund disease' SubClassOf 'Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder' 'Gräsbeck-Imerslund disease' SubClassOf 'Metabolic disease with intestinal involvement' 'Gräsbeck-Imerslund disease' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' http://www.orpha.net/ORDO/Orphanet_1318 Campomelia, Cumming type 'Campomelia, Cumming type' SubClassOf 'Syndromic lymphedema' 'Campomelia, Cumming type' SubClassOf 'Bent bone dysplasia' 'Campomelia, Cumming type' SubClassOf 'Syndromic lymphedema' 'Campomelia, Cumming type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0009332 'Campomelia, Cumming type' SubClassOf 'Bent bone dysplasia' 'Campomelia, Cumming type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 'Campomelia, Cumming type' SubClassOf 'Milroy disease' 'Campomelia, Cumming type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007 'Campomelia, Cumming type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018722 http://www.orpha.net/ORDO/Orphanet_1319 Camptobrachydactyly 'Camptobrachydactyly' SubClassOf 'Syndrome with brachydactyly' 'Camptobrachydactyly' SubClassOf 'Syndrome with brachydactyly' http://www.orpha.net/ORDO/Orphanet_2649 Short stature - intellectual disability - eye anomalies - cleft lip/palate 'Short stature - intellectual disability - eye anomalies - cleft lip/palate' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 http://www.orpha.net/ORDO/Orphanet_371183 Congenital disorder of glycosylation with cardiac malformation as a major feature 'Congenital disorder of glycosylation with cardiac malformation as a major feature' SubClassOf 'Congenital disorder of glycosylation with developmental anomaly' 'Congenital disorder of glycosylation with cardiac malformation as a major feature' SubClassOf 'Rare syndrome with cardiac malformations' 'Congenital disorder of glycosylation with cardiac malformation as a major feature' SubClassOf 'Rare syndrome with cardiac malformations' 'Congenital disorder of glycosylation with cardiac malformation as a major feature' SubClassOf 'Congenital disorder of glycosylation with developmental anomaly' http://www.orpha.net/ORDO/Orphanet_2662 Keipert syndrome 'Keipert syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Keipert syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_1331 Familial prostate cancer 'Familial prostate cancer' SubClassOf 'prostate disease' 'Familial prostate cancer' SubClassOf 'has_disease_location' some 'prostate gland' 'Familial prostate cancer' EquivalentTo 'prostate carcinoma' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) 'Familial prostate cancer' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003847 'Familial prostate cancer' SubClassOf 'prostate carcinoma' http://purl.obolibrary.org/obo/UBERON_0002509 mesenteric lymph node 'mesenteric lymph node' SubClassOf 'lymph node' 'mesenteric lymph node' SubClassOf http://purl.obolibrary.org/obo/UBERON_0015860 http://www.orpha.net/ORDO/Orphanet_168782 Childhood disintegrative disorder 'Childhood disintegrative disorder' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Childhood disintegrative disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000594 http://www.orpha.net/ORDO/Orphanet_1338 Heart defect-tongue hamartoma-polysyndactyly syndrome 'Heart defect-tongue hamartoma-polysyndactyly syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Heart defect-tongue hamartoma-polysyndactyly syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_2669 Nephrosis - deafness - urinary tract - digital malformations 'Nephrosis - deafness - urinary tract - digital malformations' SubClassOf 'Syndromic urogenital tract malformation' 'Nephrosis - deafness - urinary tract - digital malformations' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Nephrosis - deafness - urinary tract - digital malformations' SubClassOf 'Syndromic renal or urinary tract malformation' 'Nephrosis - deafness - urinary tract - digital malformations' SubClassOf 'Syndromic genetic deafness' 'Nephrosis - deafness - urinary tract - digital malformations' SubClassOf 'Syndromic urogenital tract malformation' 'Nephrosis - deafness - urinary tract - digital malformations' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Nephrosis - deafness - urinary tract - digital malformations' SubClassOf 'Syndromic renal or urinary tract malformation' 'Nephrosis - deafness - urinary tract - digital malformations' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_34521 Distal myopathy with early respiratory muscle involvement 'Distal myopathy with early respiratory muscle involvement' SubClassOf 'Autosomal dominant distal myopathy' 'Distal myopathy with early respiratory muscle involvement' SubClassOf 'Autosomal dominant distal myopathy' http://www.orpha.net/ORDO/Orphanet_1336 Hyperkeratosis-hyperpigmentation syndrome 'Hyperkeratosis-hyperpigmentation syndrome' SubClassOf 'Genetic hyperpigmentation of the skin' 'Hyperkeratosis-hyperpigmentation syndrome' SubClassOf 'Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature' 'Hyperkeratosis-hyperpigmentation syndrome' SubClassOf 'Genetic hyperpigmentation of the skin' 'Hyperkeratosis-hyperpigmentation syndrome' SubClassOf 'Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature' http://www.orpha.net/ORDO/Orphanet_2668 Nephropathy-deafness-hyperparathyroidism syndrome 'Nephropathy-deafness-hyperparathyroidism syndrome' SubClassOf 'Syndromic genetic deafness' 'Nephropathy-deafness-hyperparathyroidism syndrome' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_34520 Congenital muscular dystrophy with integrin alpha-7 deficiency 'Congenital muscular dystrophy with integrin alpha-7 deficiency' SubClassOf 'Qualitative or quantitative defects of integrin alpha-7' 'Congenital muscular dystrophy with integrin alpha-7 deficiency' SubClassOf 'Congenital muscular dystrophy' 'Congenital muscular dystrophy with integrin alpha-7 deficiency' SubClassOf 'Qualitative or quantitative defects of integrin alpha-7' 'Congenital muscular dystrophy with integrin alpha-7 deficiency' SubClassOf 'Congenital muscular dystrophy' http://www.orpha.net/ORDO/Orphanet_1334 Chronic mucocutaneous candidosis 'Chronic mucocutaneous candidosis' SubClassOf 'Genetic susceptibility to infections due to particular pathogens' 'Chronic mucocutaneous candidosis' SubClassOf 'Genetic immune deficiency with skin involvement' 'Chronic mucocutaneous candidosis' SubClassOf 'Genetic susceptibility to infections due to particular pathogens' 'Chronic mucocutaneous candidosis' SubClassOf 'Genetic immune deficiency with skin involvement' 'Chronic mucocutaneous candidosis' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some http://purl.obolibrary.org/obo/MONDO_0002026 'Chronic mucocutaneous candidosis' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0020573 and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some http://purl.obolibrary.org/obo/MONDO_0002026) 'Chronic mucocutaneous candidosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 http://www.orpha.net/ORDO/Orphanet_2666 Adult familial nephronophthisis - spastic quadriparesia 'Adult familial nephronophthisis - spastic quadriparesia' SubClassOf 'Familial cystic renal disease' 'Adult familial nephronophthisis - spastic quadriparesia' SubClassOf 'Familial cystic renal disease' http://www.orpha.net/ORDO/Orphanet_34526 Familial primary hypomagnesemia 'Familial primary hypomagnesemia' SubClassOf 'Genetic renal tubular disease' 'Familial primary hypomagnesemia' SubClassOf 'Disorder of magnesium transport' 'Familial primary hypomagnesemia' SubClassOf 'Genetic renal tubular disease' 'Familial primary hypomagnesemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004689 'Familial primary hypomagnesemia' SubClassOf 'Disorder of magnesium transport' 'Familial primary hypomagnesemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019744 http://www.orpha.net/ORDO/Orphanet_1335 Cantrell pentalogy 'Cantrell pentalogy' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Cantrell pentalogy' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Cantrell pentalogy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015216 'Cantrell pentalogy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015880 http://www.orpha.net/ORDO/Orphanet_1333 Familial pancreatic carcinoma 'Familial pancreatic carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003847 'Familial pancreatic carcinoma' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Familial pancreatic carcinoma' SubClassOf 'pancreatic carcinoma' 'Familial pancreatic carcinoma' EquivalentTo 'pancreatic carcinoma' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) http://www.orpha.net/ORDO/Orphanet_2663 Nathalie syndrome 'Nathalie syndrome' SubClassOf 'Syndromic cataract' 'Nathalie syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Nathalie syndrome' SubClassOf 'Syndromic cataract' 'Nathalie syndrome' SubClassOf 'Syndromic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_371176 Congenital disorder of glycosylation with dilated cardiomyopathy 'Congenital disorder of glycosylation with dilated cardiomyopathy' SubClassOf 'Familial dilated cardiomyopathy' 'Congenital disorder of glycosylation with dilated cardiomyopathy' SubClassOf 'Familial dilated cardiomyopathy' 'Congenital disorder of glycosylation with dilated cardiomyopathy' SubClassOf 'Congenital disorder of glycosylation with cardiac malformation as a major feature' http://www.orpha.net/ORDO/Orphanet_34517 Autosomal dominant limb-girdle muscular dystrophy type 1E 'Autosomal dominant limb-girdle muscular dystrophy type 1E' SubClassOf 'Autosomal dominant limb-girdle muscular dystrophy' 'Autosomal dominant limb-girdle muscular dystrophy type 1E' SubClassOf 'Autosomal dominant limb-girdle muscular dystrophy' 'Autosomal dominant limb-girdle muscular dystrophy type 1E' SubClassOf 'Qualitative or quantitative defects of desmin' http://www.orpha.net/ORDO/Orphanet_34516 Autosomal dominant limb-girdle muscular dystrophy type 1D 'Autosomal dominant limb-girdle muscular dystrophy type 1D' SubClassOf 'Autosomal dominant limb-girdle muscular dystrophy' 'Autosomal dominant limb-girdle muscular dystrophy type 1D' SubClassOf 'Autosomal dominant limb-girdle muscular dystrophy' http://www.orpha.net/ORDO/Orphanet_397787 Severe combined immunodeficiency due to IKK2 deficiency 'Severe combined immunodeficiency due to IKK2 deficiency' SubClassOf 'T+ B+ severe combined immunodeficiency' 'Severe combined immunodeficiency due to IKK2 deficiency' SubClassOf 'T+ B+ severe combined immunodeficiency' http://purl.obolibrary.org/obo/HP_0003074 Hyperglycemia 'Hyperglycemia' EquivalentTo 'has part' some ('increased concentration' and ('inheres_in' some 'blood') and ('has component' some 'pathological') and ('towards' some 'glucose')) http://www.orpha.net/ORDO/Orphanet_216866 Classic pantothenate kinase-associated neurodegeneration 'Classic pantothenate kinase-associated neurodegeneration' SubClassOf 'Pantothenate kinase-associated neurodegeneration' 'Classic pantothenate kinase-associated neurodegeneration' SubClassOf 'Pantothenate kinase-associated neurodegeneration' http://purl.obolibrary.org/obo/HP_0003073 hypoalbuminemia 'hypoalbuminemia' EquivalentTo 'has part' some ('decreased concentration' and ('inheres_in' some ('serum albumin' and ('part_of' some 'blood'))) and ('has component' some 'abnormal')) http://purl.obolibrary.org/obo/HP_0003072 Hypercalcemia 'Hypercalcemia' EquivalentTo 'has part' some ('increased concentration' and ('inheres_in' some 'blood') and ('towards' some 'calcium')) http://www.orpha.net/ORDO/Orphanet_2604 Familial visceral myopathy 'Familial visceral myopathy' SubClassOf 'Congenital intestinal motility disorder' 'Familial visceral myopathy' SubClassOf 'Megacystis-microcolon-intestinal hypoperistalsis syndrome' http://www.orpha.net/ORDO/Orphanet_2601 Myopathy - growth delay - intellectual disability - hypospadias 'Myopathy - growth delay - intellectual disability - hypospadias' SubClassOf 'Syndromic urogenital tract malformation' 'Myopathy - growth delay - intellectual disability - hypospadias' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Myopathy - growth delay - intellectual disability - hypospadias' SubClassOf 'Syndromic urogenital tract malformation' 'Myopathy - growth delay - intellectual disability - hypospadias' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 http://purl.obolibrary.org/obo/HP_0030680 Abnormality of cardiovascular system morphology 'Abnormality of cardiovascular system morphology' SubClassOf 'Abnormality of the cardiovascular system' 'Abnormality of cardiovascular system morphology' SubClassOf 'Abnormality of the cardiovascular system' http://www.orpha.net/ORDO/Orphanet_35878 Hyperinsulinism-hyperammonemia syndrome 'Hyperinsulinism-hyperammonemia syndrome' SubClassOf 'Diazoxide-sensitive diffuse hyperinsulinism' 'Hyperinsulinism-hyperammonemia syndrome' SubClassOf 'Disorder of urea cycle metabolism and ammonia detoxification' 'Hyperinsulinism-hyperammonemia syndrome' SubClassOf 'Diazoxide-sensitive diffuse hyperinsulinism' 'Hyperinsulinism-hyperammonemia syndrome' SubClassOf 'Disorder of urea cycle metabolism and ammonia detoxification' 'Hyperinsulinism-hyperammonemia syndrome' SubClassOf 'hyperinsulinemic hypoglycemia' http://www.orpha.net/ORDO/Orphanet_371195 Congenital disorder of glycosylation-related bone disorder 'Congenital disorder of glycosylation-related bone disorder' SubClassOf 'Congenital disorder of glycosylation with developmental anomaly' 'Congenital disorder of glycosylation-related bone disorder' SubClassOf 'Rare bone disease related to a common gene or pathway defect' 'Congenital disorder of glycosylation-related bone disorder' SubClassOf 'Congenital disorder of glycosylation with developmental anomaly' 'Congenital disorder of glycosylation-related bone disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 'Congenital disorder of glycosylation-related bone disorder' SubClassOf 'Rare bone disease related to a common gene or pathway defect' http://www.orpha.net/ORDO/Orphanet_227535 Hereditary breast cancer 'Hereditary breast cancer' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003847 'Hereditary breast cancer' EquivalentTo 'breast carcinoma' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) 'Hereditary breast cancer' SubClassOf 'disease has feature' some 'breast carcinoma' http://www.orpha.net/ORDO/Orphanet_2615 Nakajo-Nishimura syndrome 'Nakajo-Nishimura syndrome' SubClassOf 'Proteasome disability syndrome' 'Nakajo-Nishimura syndrome' SubClassOf 'Proteasome disability syndrome' http://www.orpha.net/ORDO/Orphanet_2614 Nail-patella syndrome 'Nail-patella syndrome' SubClassOf 'Patellar dysostosis' 'Nail-patella syndrome' SubClassOf 'Primary glomerular disease' 'Nail-patella syndrome' SubClassOf 'Onycho-patellar syndrome with eye involvement' 'Nail-patella syndrome' SubClassOf 'Syndromic nail anomaly' 'Nail-patella syndrome' SubClassOf 'Patellar dysostosis' 'Nail-patella syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 'Nail-patella syndrome' SubClassOf 'Primary glomerular disease' 'Nail-patella syndrome' SubClassOf 'Onycho-patellar syndrome with eye involvement' 'Nail-patella syndrome' SubClassOf 'Syndromic nail anomaly' 'Nail-patella syndrome' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_2613 Nail-patella-like renal disease 'Nail-patella-like renal disease' SubClassOf 'Primary glomerular disease' 'Nail-patella-like renal disease' SubClassOf 'Primary glomerular disease' http://www.orpha.net/ORDO/Orphanet_2612 Linear nevus sebaceus syndrome 'Linear nevus sebaceus syndrome' SubClassOf 'Palpebral nevus' 'Linear nevus sebaceus syndrome' SubClassOf 'Bulbar conjunctival dermoid or conjunctival dermolipoma' 'Linear nevus sebaceus syndrome' SubClassOf 'Malformation syndrome with hamartosis' 'Linear nevus sebaceus syndrome' SubClassOf 'Genetic skin tumor' 'Linear nevus sebaceus syndrome' SubClassOf 'Palpebral nevus' 'Linear nevus sebaceus syndrome' SubClassOf 'Genetic eye tumor' 'Linear nevus sebaceus syndrome' SubClassOf 'Bulbar conjunctival dermoid or conjunctival dermolipoma' 'Linear nevus sebaceus syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Linear nevus sebaceus syndrome' SubClassOf 'Benign Conjunctival Neoplasm' 'Linear nevus sebaceus syndrome' SubClassOf 'Malformation syndrome with hamartosis' 'Linear nevus sebaceus syndrome' SubClassOf 'Genetic skin tumor' 'Linear nevus sebaceus syndrome' SubClassOf 'hamartoma' http://www.orpha.net/ORDO/Orphanet_2609 Isolated NADH-CoQ reductase deficiency 'Isolated NADH-CoQ reductase deficiency' SubClassOf 'Neurometabolic disease' 'Isolated NADH-CoQ reductase deficiency' SubClassOf 'Mitochondrial myopathy' 'Isolated NADH-CoQ reductase deficiency' SubClassOf 'X-linked syndromic intellectual disability' 'Isolated NADH-CoQ reductase deficiency' SubClassOf 'Isolated oxidative phosphorylation complex disorder' 'Isolated NADH-CoQ reductase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000066 'Isolated NADH-CoQ reductase deficiency' SubClassOf 'Syndromic neurometabolic disease with X-linked intellectual disability' 'Isolated NADH-CoQ reductase deficiency' SubClassOf 'Mitochondrial myopathy' 'Isolated NADH-CoQ reductase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044971 'Isolated NADH-CoQ reductase deficiency' SubClassOf 'Isolated oxidative phosphorylation complex disorder' http://www.orpha.net/ORDO/Orphanet_2608 N syndrome 'N syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'N syndrome' SubClassOf 'Inherited cancer-predisposing syndrome' 'N syndrome' SubClassOf 'Syndromic genetic deafness' 'N syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'N syndrome' SubClassOf 'Inherited cancer-predisposing syndrome' 'N syndrome' SubClassOf 'Syndromic genetic deafness' http://purl.obolibrary.org/obo/CHEBI_22720 benzodiazepine 'benzodiazepine' SubClassOf 'has_role' some 'drug role' http://www.orpha.net/ORDO/Orphanet_2623 Geleophysic dysplasia 'Geleophysic dysplasia' SubClassOf 'Acromelic dysplasia' 'Geleophysic dysplasia' SubClassOf 'Acromelic dysplasia' http://www.orpha.net/ORDO/Orphanet_2619 Brachydactylous dwarfism, Mseleni type 'Brachydactylous dwarfism, Mseleni type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Brachydactylous dwarfism, Mseleni type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_2617 Bird headed-dwarfism, Montreal type 'Bird headed-dwarfism, Montreal type' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Bird headed-dwarfism, Montreal type' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Bird headed-dwarfism, Montreal type' SubClassOf 'Microcephalic primordial dwarfism' http://www.orpha.net/ORDO/Orphanet_216873 Atypical pantothenate kinase-associated neurodegeneration 'Atypical pantothenate kinase-associated neurodegeneration' SubClassOf 'Pantothenate kinase-associated neurodegeneration' 'Atypical pantothenate kinase-associated neurodegeneration' SubClassOf 'Pantothenate kinase-associated neurodegeneration' http://www.orpha.net/ORDO/Orphanet_2616 3M syndrome '3M syndrome' SubClassOf 'Genetic malformation syndrome with short stature' '3M syndrome' SubClassOf 'Slender bone dysplasia' '3M syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' '3M syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 '3M syndrome' SubClassOf 'autosomal recessive disease' '3M syndrome' SubClassOf 'Genetic malformation syndrome with short stature' '3M syndrome' SubClassOf 'Slender bone dysplasia' '3M syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_46532 Hereditary persistence of fetal hemoglobin - beta-thalassemia 'Hereditary persistence of fetal hemoglobin - beta-thalassemia' SubClassOf 'Beta-thalassemia associated with another hemoglobin anomaly' 'Hereditary persistence of fetal hemoglobin - beta-thalassemia' SubClassOf 'Beta-thalassemia associated with another hemoglobin anomaly' http://www.orpha.net/ORDO/Orphanet_309297 Mucopolysaccharidosis type 4A 'Mucopolysaccharidosis type 4A' SubClassOf 'Mucopolysaccharidosis type 4' 'Mucopolysaccharidosis type 4A' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044976 'Mucopolysaccharidosis type 4A' SubClassOf 'Mucopolysaccharidosis type 4' http://www.orpha.net/ORDO/Orphanet_309294 sialidosis 'sialidosis' SubClassOf 'Oligosaccharidosis' 'sialidosis' SubClassOf 'Oligosaccharidosis' http://www.ebi.ac.uk/efo/EFO_1000345 Major Salivary Gland Carcinoma ex Pleomorphic Adenoma 'Major Salivary Gland Carcinoma ex Pleomorphic Adenoma' SubClassOf 'salivary gland neoplasm' 'Major Salivary Gland Carcinoma ex Pleomorphic Adenoma' SubClassOf 'carcinoma' 'Major Salivary Gland Carcinoma ex Pleomorphic Adenoma' SubClassOf 'Major Salivary Gland Carcinoma' 'Major Salivary Gland Carcinoma ex Pleomorphic Adenoma' SubClassOf 'Salivary Gland Carcinoma ex Pleomorphic Adenoma' 'Major Salivary Gland Carcinoma ex Pleomorphic Adenoma' SubClassOf 'carcinoma' 'Major Salivary Gland Carcinoma ex Pleomorphic Adenoma' SubClassOf 'has_disease_location' some ('saliva-secreting gland' or ('part_of' some 'saliva-secreting gland')) http://www.orpha.net/ORDO/Orphanet_35688 Madelung deformity 'Madelung deformity' SubClassOf 'Mesomelic and rhizo-mesomelic dysplasia' 'Madelung deformity' SubClassOf 'Joint formation defects' 'Madelung deformity' SubClassOf 'Léri-Weill dyschondrosteosis' 'Madelung deformity' SubClassOf 'Joint formation defects' http://www.ebi.ac.uk/efo/EFO_1000346 Major Salivary Gland Mucoepidermoid Carcinoma 'Major Salivary Gland Mucoepidermoid Carcinoma' SubClassOf 'carcinoma' 'Major Salivary Gland Mucoepidermoid Carcinoma' SubClassOf 'salivary gland neoplasm' 'Major Salivary Gland Mucoepidermoid Carcinoma' SubClassOf 'carcinoma' 'Major Salivary Gland Mucoepidermoid Carcinoma' SubClassOf 'has_disease_location' some ('saliva-secreting gland' or ('part_of' some 'saliva-secreting gland')) 'Major Salivary Gland Mucoepidermoid Carcinoma' SubClassOf 'salivary gland neoplasm' 'Major Salivary Gland Mucoepidermoid Carcinoma' SubClassOf 'Major Salivary Gland Carcinoma' 'Major Salivary Gland Mucoepidermoid Carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021009 http://www.ebi.ac.uk/efo/EFO_1000344 Major Salivary Gland Carcinoma 'Major Salivary Gland Carcinoma' SubClassOf 'salivary gland neoplasm' 'Major Salivary Gland Carcinoma' SubClassOf 'carcinoma' 'Major Salivary Gland Carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000521 'Major Salivary Gland Carcinoma' SubClassOf 'has_disease_location' some ('saliva-secreting gland' or ('part_of' some 'saliva-secreting gland')) 'Major Salivary Gland Carcinoma' SubClassOf 'salivary gland neoplasm' 'Major Salivary Gland Carcinoma' SubClassOf 'carcinoma' 'Major Salivary Gland Carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044743 http://www.ebi.ac.uk/efo/EFO_1000341 Lymphomatoid Papulosis 'Lymphomatoid Papulosis' SubClassOf 'skin neoplasm' 'Lymphomatoid Papulosis' SubClassOf 'skin neoplasm' http://www.ebi.ac.uk/efo/EFO_1000342 Lymphoplasmacyte-Rich Meningioma 'Lymphoplasmacyte-Rich Meningioma' SubClassOf 'Meningioma' 'Lymphoplasmacyte-Rich Meningioma' SubClassOf 'Meningioma' 'Lymphoplasmacyte-Rich Meningioma' SubClassOf 'has_disease_location' some ('meninx' or ('part_of' some 'meninx')) http://www.orpha.net/ORDO/Orphanet_97927 Peripheral resistance to thyroid hormones 'Peripheral resistance to thyroid hormones' SubClassOf 'Peripheral hypothyroidism' 'Peripheral resistance to thyroid hormones' SubClassOf 'Peripheral hypothyroidism' http://www.ebi.ac.uk/efo/EFO_1000340 Lymphoepithelioma-Like Lung Carcinoma 'Lymphoepithelioma-Like Lung Carcinoma' SubClassOf 'large cell lung carcinoma' 'Lymphoepithelioma-Like Lung Carcinoma' SubClassOf 'large cell lung carcinoma' 'Lymphoepithelioma-Like Lung Carcinoma' SubClassOf 'has_disease_location' some ('lung' or ('part_of' some 'lung')) http://www.orpha.net/ORDO/Orphanet_35689 Primary lateral sclerosis 'Primary lateral sclerosis' SubClassOf 'Genetic neurodegenerative disease' 'Primary lateral sclerosis' SubClassOf 'Genetic neurodegenerative disease' 'Primary lateral sclerosis' SubClassOf 'Genetic motor neuron disease' http://www.orpha.net/ORDO/Orphanet_108993 Non-syndromic respiratory or mediastinal malformation 'Non-syndromic respiratory or mediastinal malformation' SubClassOf 'Genetic respiratory or mediastinal malformation' 'Non-syndromic respiratory or mediastinal malformation' SubClassOf 'Genetic respiratory or mediastinal malformation' 'Non-syndromic respiratory or mediastinal malformation' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Non-syndromic respiratory or mediastinal malformation' EquivalentTo 'Genetic respiratory or mediastinal malformation' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021128) 'Non-syndromic respiratory or mediastinal malformation' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021128 http://purl.obolibrary.org/obo/GO_0007165 signal transduction 'signal transduction' SubClassOf 'part_of' some 'single organism signaling' 'signal transduction' SubClassOf 'part_of' some 'cell communication' http://www.ebi.ac.uk/efo/EFO_1000349 Malignant Bladder Paraganglioma 'Malignant Bladder Paraganglioma' SubClassOf 'extra-adrenal sympathetic paraganglioma' 'Malignant Bladder Paraganglioma' SubClassOf 'has_disease_location' some ('urinary bladder' or ('part_of' some 'urinary bladder')) 'Malignant Bladder Paraganglioma' SubClassOf 'extra-adrenal sympathetic paraganglioma' http://www.ebi.ac.uk/efo/EFO_1000347 Malignancy in Giant Cell Tumor of Bone 'Malignancy in Giant Cell Tumor of Bone' SubClassOf 'bone neoplasm' 'Malignancy in Giant Cell Tumor of Bone' SubClassOf 'sarcoma' 'Malignancy in Giant Cell Tumor of Bone' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002402 'Malignancy in Giant Cell Tumor of Bone' SubClassOf 'bone neoplasm' 'Malignancy in Giant Cell Tumor of Bone' SubClassOf 'has_disease_location' some ('bone' or ('part_of' some 'bone')) 'Malignancy in Giant Cell Tumor of Bone' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021054 'Malignancy in Giant Cell Tumor of Bone' SubClassOf 'sarcoma' http://www.orpha.net/ORDO/Orphanet_371200 Congenital disorder of glycosylation with skin involvement 'Congenital disorder of glycosylation with skin involvement' SubClassOf 'Metabolic disease with skin involvement' 'Congenital disorder of glycosylation with skin involvement' SubClassOf 'Metabolic disease with skin involvement' 'Congenital disorder of glycosylation with skin involvement' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 'Congenital disorder of glycosylation with skin involvement' SubClassOf 'Congenital disorder of glycosylation' http://www.ebi.ac.uk/efo/EFO_1000348 Malignant Adrenal Gland Pheochromocytoma 'Malignant Adrenal Gland Pheochromocytoma' SubClassOf 'adrenal gland pheochromocytoma' 'Malignant Adrenal Gland Pheochromocytoma' SubClassOf 'endocrine neoplasm' 'Malignant Adrenal Gland Pheochromocytoma' SubClassOf 'adrenal gland pheochromocytoma' 'Malignant Adrenal Gland Pheochromocytoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002120 'Malignant Adrenal Gland Pheochromocytoma' SubClassOf 'adrenal gland neoplasm' 'Malignant Adrenal Gland Pheochromocytoma' SubClassOf 'endocrine neoplasm' 'Malignant Adrenal Gland Pheochromocytoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004202 'Malignant Adrenal Gland Pheochromocytoma' SubClassOf 'has_disease_location' some ('adrenal gland' or ('part_of' some 'adrenal gland')) 'Malignant Adrenal Gland Pheochromocytoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021089 http://purl.obolibrary.org/obo/UBERON_0002314 midbrain tectum 'midbrain tectum' SubClassOf 'part_of' some 'midbrain' http://www.orpha.net/ORDO/Orphanet_46348 Paroxysmal extreme pain disorder 'Paroxysmal extreme pain disorder' SubClassOf 'Rare genetic neurological disorder' 'Paroxysmal extreme pain disorder' SubClassOf 'Rare genetic neurological disorder' http://www.ebi.ac.uk/efo/EFO_1000356 Malignant Mixed Neoplasm 'Malignant Mixed Neoplasm' SubClassOf 'neoplasm' 'Malignant Mixed Neoplasm' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021043 'Malignant Mixed Neoplasm' SubClassOf 'cancer' 'Malignant Mixed Neoplasm' SubClassOf 'neoplasm' http://www.ebi.ac.uk/efo/EFO_1000357 Malignant Ovarian Brenner Tumor 'Malignant Ovarian Brenner Tumor' SubClassOf 'ovarian neoplasm' 'Malignant Ovarian Brenner Tumor' SubClassOf 'has_disease_location' some ('female gonad' or ('part_of' some 'female gonad')) 'Malignant Ovarian Brenner Tumor' SubClassOf 'ovarian neoplasm' http://www.ebi.ac.uk/efo/EFO_1000354 Malignant Laryngeal Neoplasm 'Malignant Laryngeal Neoplasm' SubClassOf 'laryngeal neoplasm' 'Malignant Laryngeal Neoplasm' SubClassOf 'laryngeal neoplasm' 'Malignant Laryngeal Neoplasm' SubClassOf 'has_disease_location' some ('larynx' or ('part_of' some 'larynx')) http://www.ebi.ac.uk/efo/EFO_1000355 Malignant Mesothelioma 'Malignant Mesothelioma' SubClassOf 'respiratory system neoplasm' 'Malignant Mesothelioma' SubClassOf 'mesothelioma' 'Malignant Mesothelioma' SubClassOf 'has_disease_location' some ('pleura' or ('part_of' some 'pleura')) 'Malignant Mesothelioma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000376 'Malignant Mesothelioma' SubClassOf 'mesothelioma' 'Malignant Mesothelioma' SubClassOf 'has_disease_location' some ('peritoneum' or ('part_of' some 'peritoneum')) 'Malignant Mesothelioma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015119 http://www.ebi.ac.uk/efo/EFO_1000352 Malignant Germ Cell Tumor 'Malignant Germ Cell Tumor' SubClassOf 'germ cell tumor' 'Malignant Germ Cell Tumor' SubClassOf 'cancer' 'Malignant Germ Cell Tumor' SubClassOf 'germ cell tumor' http://www.ebi.ac.uk/efo/EFO_1000353 Malignant Jugulotympanic Paraganglioma 'Malignant Jugulotympanic Paraganglioma' SubClassOf 'neoplasm' 'Malignant Jugulotympanic Paraganglioma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021069 'Malignant Jugulotympanic Paraganglioma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021310 'Malignant Jugulotympanic Paraganglioma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021089 'Malignant Jugulotympanic Paraganglioma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002120 'Malignant Jugulotympanic Paraganglioma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002095 'Malignant Jugulotympanic Paraganglioma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021064 'Malignant Jugulotympanic Paraganglioma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002132 'Malignant Jugulotympanic Paraganglioma' SubClassOf 'neoplasm' http://www.ebi.ac.uk/efo/EFO_1000350 Malignant Bone Neoplasm 'Malignant Bone Neoplasm' SubClassOf 'bone neoplasm' 'Malignant Bone Neoplasm' SubClassOf 'has_disease_location' some ('bone' or ('part_of' some 'bone')) 'Malignant Bone Neoplasm' SubClassOf 'bone neoplasm' http://www.ebi.ac.uk/efo/EFO_1000351 obsolete_malignant epitheloid mesothelioma 'obsolete_malignant epitheloid mesothelioma' SubClassOf 'obsolete class' 'obsolete_malignant epitheloid mesothelioma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_108985 Non-syndromic developmental defect of the eye 'Non-syndromic developmental defect of the eye' SubClassOf 'Genetic developmental defect of the eye' 'Non-syndromic developmental defect of the eye' EquivalentTo 'Genetic developmental defect of the eye' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021128) 'Non-syndromic developmental defect of the eye' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021128 'Non-syndromic developmental defect of the eye' SubClassOf 'Genetic developmental defect of the eye' http://www.ebi.ac.uk/efo/EFO_1000358 Malignant Ovarian Mixed Epithelial Tumor 'Malignant Ovarian Mixed Epithelial Tumor' SubClassOf 'ovarian neoplasm' 'Malignant Ovarian Mixed Epithelial Tumor' SubClassOf 'ovarian neoplasm' 'Malignant Ovarian Mixed Epithelial Tumor' SubClassOf 'has_disease_location' some ('female gonad' or ('part_of' some 'female gonad')) http://www.ebi.ac.uk/efo/EFO_1000359 Malignant Pancreatic Neoplasm 'Malignant Pancreatic Neoplasm' SubClassOf 'pancreatic neoplasm' 'Malignant Pancreatic Neoplasm' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002516 'Malignant Pancreatic Neoplasm' SubClassOf 'disease has feature' some 'acute pancreatitis' 'Malignant Pancreatic Neoplasm' SubClassOf 'pancreatic neoplasm' 'Malignant Pancreatic Neoplasm' SubClassOf 'has_disease_location' some ('pancreas' or ('part_of' some 'pancreas')) http://www.orpha.net/ORDO/Orphanet_108987 Syndromic developmental defect of the eye 'Syndromic developmental defect of the eye' SubClassOf 'Genetic developmental defect of the eye' 'Syndromic developmental defect of the eye' SubClassOf 'Genetic developmental defect of the eye' 'Syndromic developmental defect of the eye' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Syndromic developmental defect of the eye' EquivalentTo 'Genetic developmental defect of the eye' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021127) http://www.ebi.ac.uk/efo/EFO_1000360 Malignant Paraganglioma 'Malignant Paraganglioma' SubClassOf 'endocrine neoplasm' 'Malignant Paraganglioma' SubClassOf 'endocrine neoplasm' http://www.orpha.net/ORDO/Orphanet_309279 Glycoproteinosis 'Glycoproteinosis' SubClassOf 'Lysosomal disease' 'Glycoproteinosis' SubClassOf 'Lysosomal disease' http://purl.obolibrary.org/obo/UBERON_0001007 digestive system 'digestive system' DisjointWith 'circulatory system' 'digestive system' DisjointWith 'immune system' 'digestive system' DisjointWith 'hematopoietic system' 'reproductive system' DisjointWith 'digestive system' 'digestive system' DisjointWith 'gustatory system' 'endocrine system' DisjointWith 'digestive system' 'digestive system' DisjointWith 'skeletal system' 'digestive system' DisjointWith 'biliary system' 'digestive system' DisjointWith http://purl.obolibrary.org/obo/UBERON_0002330 'digestive system' DisjointWith http://purl.obolibrary.org/obo/UBERON_0002204 'digestive system' DisjointWith 'renal system' 'digestive system' DisjointWith http://purl.obolibrary.org/obo/UBERON_0004456 'digestive system' DisjointWith 'integumental system' 'digestive system' DisjointWith 'hepatobiliary system' 'respiratory system' DisjointWith 'digestive system' 'digestive system' DisjointWith 'nervous system' http://www.orpha.net/ORDO/Orphanet_156607 Genetic biliary tract disease 'Genetic biliary tract disease' SubClassOf 'liver disease' 'Genetic biliary tract disease' EquivalentTo 'biliary tract disease' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) 'Genetic biliary tract disease' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Genetic biliary tract disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003847 http://purl.obolibrary.org/obo/UBERON_0001008 renal system 'renal system' DisjointWith 'circulatory system' 'respiratory system' DisjointWith 'renal system' 'renal system' DisjointWith 'hematopoietic system' 'renal system' SubClassOf 'part_of' some 'genitourinary system' 'renal system' DisjointWith 'gustatory system' 'renal system' DisjointWith 'biliary system' 'reproductive system' DisjointWith 'renal system' 'renal system' DisjointWith 'immune system' 'renal system' DisjointWith 'skeletal system' 'renal system' DisjointWith http://purl.obolibrary.org/obo/UBERON_0002330 'renal system' DisjointWith http://purl.obolibrary.org/obo/UBERON_0004456 'renal system' DisjointWith 'nervous system' 'renal system' DisjointWith 'integumental system' 'renal system' DisjointWith http://purl.obolibrary.org/obo/UBERON_0002204 'digestive system' DisjointWith 'renal system' 'renal system' DisjointWith 'hepatobiliary system' 'endocrine system' DisjointWith 'renal system' http://purl.obolibrary.org/obo/UBERON_0001009 circulatory system 'circulatory system' SubClassOf 'anatomical system' 'digestive system' DisjointWith 'circulatory system' 'renal system' DisjointWith 'circulatory system' 'circulatory system' DisjointWith 'gustatory system' 'circulatory system' DisjointWith 'biliary system' 'circulatory system' DisjointWith 'hematopoietic system' 'circulatory system' DisjointWith 'nervous system' 'respiratory system' DisjointWith 'circulatory system' 'circulatory system' DisjointWith 'immune system' 'endocrine system' DisjointWith 'circulatory system' 'reproductive system' DisjointWith 'circulatory system' 'circulatory system' DisjointWith http://purl.obolibrary.org/obo/UBERON_0002330 'circulatory system' DisjointWith http://purl.obolibrary.org/obo/UBERON_0004456 'circulatory system' SubClassOf 'anatomical system' 'circulatory system' DisjointWith http://purl.obolibrary.org/obo/UBERON_0002204 'circulatory system' DisjointWith 'skeletal system' 'circulatory system' DisjointWith 'hepatobiliary system' 'circulatory system' DisjointWith 'integumental system' http://www.ebi.ac.uk/efo/EFO_1000367 Mediastinal Neuroblastoma 'Mediastinal Neuroblastoma' SubClassOf 'neuroblastoma' 'Mediastinal Neuroblastoma' SubClassOf 'Mediastinal Malignant Germ Cell Tumor' 'Mediastinal Neuroblastoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003098 'Mediastinal Neuroblastoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021089 'Mediastinal Neuroblastoma' SubClassOf 'central nervous system cancer' 'Mediastinal Neuroblastoma' SubClassOf 'neuroblastoma' 'Mediastinal Neuroblastoma' SubClassOf 'has_disease_location' some ('mediastinum' or ('part_of' some 'mediastinum')) http://www.ebi.ac.uk/efo/EFO_1000368 Medullomyoblastoma with Myogenic Differentiation 'Medullomyoblastoma with Myogenic Differentiation' SubClassOf 'medulloblastoma' 'Medullomyoblastoma with Myogenic Differentiation' SubClassOf 'medulloblastoma' http://www.orpha.net/ORDO/Orphanet_397802 T+ B+ severe combined immunodeficiency 'T+ B+ severe combined immunodeficiency' SubClassOf 'Severe combined immunodeficiency' 'T+ B+ severe combined immunodeficiency' SubClassOf 'Severe combined immunodeficiency' http://www.ebi.ac.uk/efo/EFO_1000365 Maxillary Sinus Adenoid Cystic Carcinoma 'Maxillary Sinus Adenoid Cystic Carcinoma' SubClassOf 'adenoid cystic carcinoma' 'Maxillary Sinus Adenoid Cystic Carcinoma' SubClassOf 'Paranasal Sinus Adenoid Cystic Carcinoma' 'Maxillary Sinus Adenoid Cystic Carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001748 'Maxillary Sinus Adenoid Cystic Carcinoma' SubClassOf 'adenoid cystic carcinoma' http://www.orpha.net/ORDO/Orphanet_97945 Intestinal malformation 'Intestinal malformation' SubClassOf 'Genetic digestive tract malformation' 'Intestinal malformation' SubClassOf 'Genetic digestive tract malformation' http://www.ebi.ac.uk/efo/EFO_1000366 Mediastinal Malignant Germ Cell Tumor 'Mediastinal Malignant Germ Cell Tumor' SubClassOf 'germ cell tumor' 'Mediastinal Malignant Germ Cell Tumor' SubClassOf 'has_disease_location' some ('mediastinum' or ('part_of' some 'mediastinum')) 'Mediastinal Malignant Germ Cell Tumor' SubClassOf 'germ cell tumor' 'Mediastinal Malignant Germ Cell Tumor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003113 'Mediastinal Malignant Germ Cell Tumor' SubClassOf 'mediastinal cancer' 'Mediastinal Malignant Germ Cell Tumor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021067 http://www.orpha.net/ORDO/Orphanet_97944 Gastroduodenal malformation 'Gastroduodenal malformation' SubClassOf 'Genetic digestive tract malformation' 'Gastroduodenal malformation' SubClassOf 'Genetic digestive tract malformation' http://www.ebi.ac.uk/efo/EFO_1000363 Malignant Urinary System Neoplasm 'Malignant Urinary System Neoplasm' SubClassOf 'urogenital neoplasm' 'Malignant Urinary System Neoplasm' SubClassOf 'neoplasm' 'Malignant Urinary System Neoplasm' SubClassOf 'has_disease_location' some ('renal system' or ('part_of' some 'renal system')) 'Malignant Urinary System Neoplasm' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021066 'Malignant Urinary System Neoplasm' SubClassOf 'cancer' http://www.orpha.net/ORDO/Orphanet_309271 Metachromatic leukodystrophy, adult form 'Metachromatic leukodystrophy, adult form' SubClassOf 'Metachromatic leukodystrophy' 'Metachromatic leukodystrophy, adult form' SubClassOf 'Metachromatic leukodystrophy, juvenile form' http://www.ebi.ac.uk/efo/EFO_1000364 Mast Cell Sarcoma 'Mast Cell Sarcoma' SubClassOf 'sarcoma' 'Mast Cell Sarcoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000621 'Mast Cell Sarcoma' SubClassOf 'sarcoma' 'Mast Cell Sarcoma' SubClassOf 'Mastocytosis' http://www.ebi.ac.uk/efo/EFO_1000361 Malignant Peripheral Nerve Sheath Tumor with Mesenchymal Differentiation 'Malignant Peripheral Nerve Sheath Tumor with Mesenchymal Differentiation' SubClassOf 'malignant peripheral nerve sheath tumor' 'Malignant Peripheral Nerve Sheath Tumor with Mesenchymal Differentiation' SubClassOf 'malignant peripheral nerve sheath tumor' http://www.ebi.ac.uk/efo/EFO_1000362 Malignant Pleural Neoplasm 'Malignant Pleural Neoplasm' SubClassOf 'respiratory system neoplasm' 'Malignant Pleural Neoplasm' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000376 'Malignant Pleural Neoplasm' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021065 'Malignant Pleural Neoplasm' SubClassOf 'neoplasm' 'Malignant Pleural Neoplasm' SubClassOf 'has_disease_location' some ('pleura' or ('part_of' some 'pleura')) 'Malignant Pleural Neoplasm' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003274 http://www.orpha.net/ORDO/Orphanet_108971 Non-syndromic visceral malformation 'Non-syndromic visceral malformation' SubClassOf 'Genetic visceral malformation of the liver, biliary tract, pancreas or spleen' 'Non-syndromic visceral malformation' SubClassOf 'Genetic visceral malformation of the liver, biliary tract, pancreas or spleen' http://www.orpha.net/ORDO/Orphanet_108973 Syndromic visceral malformation 'Syndromic visceral malformation' SubClassOf 'Genetic visceral malformation of the liver, biliary tract, pancreas or spleen' 'Syndromic visceral malformation' SubClassOf 'Genetic visceral malformation of the liver, biliary tract, pancreas or spleen' http://www.ebi.ac.uk/efo/EFO_1000369 Melanocytoma of the Eyeball 'Melanocytoma of the Eyeball' SubClassOf 'eye neoplasm' 'Melanocytoma of the Eyeball' SubClassOf 'has_disease_location' some ('eyeball of camera-type eye' or ('part_of' some 'eyeball of camera-type eye')) 'Melanocytoma of the Eyeball' SubClassOf 'eye neoplasm' http://purl.obolibrary.org/obo/UBERON_0002333 pulmonary trunk 'pulmonary trunk' SubClassOf 'artery' 'pulmonary trunk' SubClassOf 'artery' http://www.orpha.net/ORDO/Orphanet_157946 Huntington disease-like 3 'Huntington disease-like 3' SubClassOf 'Huntington disease-like syndrome' 'Huntington disease-like 3' SubClassOf 'Miscellaneous movement disorder due to genetic neurodegenerative disease' 'Huntington disease-like 3' SubClassOf 'Huntington disease-like syndrome' 'Huntington disease-like 3' SubClassOf 'Miscellaneous movement disorder due to genetic neurodegenerative disease' http://purl.obolibrary.org/obo/UBERON_0001003 epidermis 'epidermis' SubClassOf 'animal component' 'epidermis' SubClassOf 'part_of' some 'skin of body' 'epidermis' SubClassOf http://purl.obolibrary.org/obo/UBERON_0007376 http://purl.obolibrary.org/obo/UBERON_0001004 respiratory system 'respiratory system' DisjointWith http://purl.obolibrary.org/obo/UBERON_0002204 'respiratory system' DisjointWith 'nervous system' 'respiratory system' DisjointWith 'skeletal system' 'respiratory system' DisjointWith http://purl.obolibrary.org/obo/UBERON_0004456 'respiratory system' DisjointWith 'hepatobiliary system' 'respiratory system' DisjointWith 'renal system' 'reproductive system' DisjointWith 'respiratory system' 'endocrine system' DisjointWith 'respiratory system' 'respiratory system' DisjointWith 'gustatory system' 'respiratory system' DisjointWith 'integumental system' 'respiratory system' DisjointWith 'circulatory system' 'respiratory system' DisjointWith 'immune system' 'respiratory system' DisjointWith 'hematopoietic system' 'respiratory system' DisjointWith http://purl.obolibrary.org/obo/UBERON_0002330 'respiratory system' DisjointWith 'digestive system' 'respiratory system' DisjointWith 'biliary system' http://purl.obolibrary.org/obo/UBERON_0002336 corpus callosum 'corpus callosum' SubClassOf 'part_of' some 'cerebral hemisphere' http://www.orpha.net/ORDO/Orphanet_156610 Rare genetic respiratory disease 'Rare genetic respiratory disease' SubClassOf 'has_disease_location' some ('respiratory system' or ('part_of' some 'respiratory system')) http://www.orpha.net/ORDO/Orphanet_157941 Huntington disease-like 1 'Huntington disease-like 1' SubClassOf 'Neurodegenerative disease with chorea' 'Huntington disease-like 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000167 'Huntington disease-like 1' SubClassOf 'Neurodegenerative disease with chorea' 'Huntington disease-like 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017234 http://purl.obolibrary.org/obo/UBERON_0001000 vas deferens 'vas deferens' SubClassOf 'part_of' some 'male reproductive system' http://purl.obolibrary.org/obo/UBERON_0003663 hindlimb muscle 'hindlimb muscle' SubClassOf 'animal component' 'hindlimb muscle' SubClassOf 'part_of' some 'hindlimb' 'hindlimb muscle' SubClassOf 'part_of' some 'musculature of body' 'hindlimb muscle' SubClassOf http://purl.obolibrary.org/obo/UBERON_0014795 'hindlimb muscle' SubClassOf http://purl.obolibrary.org/obo/UBERON_0003661 http://purl.obolibrary.org/obo/UBERON_0002331 umbilical cord 'umbilical cord' SubClassOf 'develops_from' some 'mesoderm' 'umbilical cord' SubClassOf 'develops_from' some 'inner cell mass' 'umbilical cord' SubClassOf 'develops_from' some 'extraembryonic tissue' http://purl.obolibrary.org/obo/UBERON_0001001 chitin-based cuticle 'chitin-based cuticle' SubClassOf 'part_of' some 'skeletal system' 'chitin-based cuticle' SubClassOf 'part_of' some 'integumental system' http://www.ebi.ac.uk/efo/EFO_1000370 Meningeal Melanocytoma 'Meningeal Melanocytoma' SubClassOf 'Meningioma' 'Meningeal Melanocytoma' SubClassOf 'has_disease_location' some ('meninx' or ('part_of' some 'meninx')) 'Meningeal Melanocytoma' SubClassOf 'Meningioma' http://www.ebi.ac.uk/efo/EFO_1000371 Meningioangiomatosis 'Meningioangiomatosis' SubClassOf 'meningeal neoplasm' 'Meningioangiomatosis' SubClassOf 'meningeal neoplasm' 'Meningioangiomatosis' SubClassOf 'has_disease_location' some ('meninx' or ('part_of' some 'meninx')) http://purl.obolibrary.org/obo/UBERON_0001017 central nervous system 'central nervous system' SubClassOf 'part_of' some 'nervous system' http://purl.obolibrary.org/obo/UBERON_0002349 myocardium 'myocardium' SubClassOf 'part_of' some 'musculature of body' 'myocardium' SubClassOf 'part_of' some 'heart' http://purl.obolibrary.org/obo/UBERON_0003679 mouth floor 'mouth floor' SubClassOf 'part_of' some 'mouth' http://www.orpha.net/ORDO/Orphanet_309288 Alpha-mannosidosis, adult form 'Alpha-mannosidosis, adult form' SubClassOf 'Alpha-mannosidosis' 'Alpha-mannosidosis, adult form' SubClassOf 'Alpha-mannosidosis' http://www.ebi.ac.uk/efo/EFO_1000378 Middle Ear Squamous Cell Carcinoma 'Middle Ear Squamous Cell Carcinoma' SubClassOf 'head and neck squamous cell carcinoma' 'Middle Ear Squamous Cell Carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003190 'Middle Ear Squamous Cell Carcinoma' SubClassOf 'head and neck squamous cell carcinoma' http://www.ebi.ac.uk/efo/EFO_1000379 Minor Salivary Gland Adenocarcinoma 'Minor Salivary Gland Adenocarcinoma' SubClassOf 'salivary gland neoplasm' 'Minor Salivary Gland Adenocarcinoma' SubClassOf 'adenocarcinoma' 'Minor Salivary Gland Adenocarcinoma' SubClassOf 'has_disease_location' some ('saliva-secreting gland' or ('part_of' some 'saliva-secreting gland')) 'Minor Salivary Gland Adenocarcinoma' SubClassOf 'adenocarcinoma' 'Minor Salivary Gland Adenocarcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0045069 http://www.orpha.net/ORDO/Orphanet_35698 Mitochondrial DNA depletion syndrome 'Mitochondrial DNA depletion syndrome' SubClassOf 'Metabolic disease with intestinal involvement' 'Mitochondrial DNA depletion syndrome' SubClassOf 'Mitochondrial DNA maintenance syndrome' 'Mitochondrial DNA depletion syndrome' SubClassOf 'Metabolic disease with intestinal involvement' 'Mitochondrial DNA depletion syndrome' SubClassOf 'Mitochondrial DNA maintenance syndrome' http://www.orpha.net/ORDO/Orphanet_371207 Congenital disorder of glycosylation with nephropathy as a major feature 'Congenital disorder of glycosylation with nephropathy as a major feature' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'Congenital disorder of glycosylation with nephropathy as a major feature' SubClassOf 'Congenital disorder of glycosylation' 'Congenital disorder of glycosylation with nephropathy as a major feature' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' http://www.ebi.ac.uk/efo/EFO_1000376 Microcystic Meningioma 'Microcystic Meningioma' SubClassOf 'Meningioma' 'Microcystic Meningioma' SubClassOf 'Meningioma' 'Microcystic Meningioma' SubClassOf 'has_disease_location' some ('meninx' or ('part_of' some 'meninx')) http://www.orpha.net/ORDO/Orphanet_35696 Mitochondrial disorder due to a defect in mitochondrial protein synthesis 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' http://www.ebi.ac.uk/efo/EFO_1000377 Micropapillary Serous Carcinoma 'Micropapillary Serous Carcinoma' SubClassOf 'adenocarcinoma' 'Micropapillary Serous Carcinoma' SubClassOf 'adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_1000374 obsolete_metaplastic Breast Carcinoma 'obsolete_metaplastic Breast Carcinoma' SubClassOf 'obsolete class' 'obsolete_metaplastic Breast Carcinoma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_309282 Alpha-mannosidosis, infantile form 'Alpha-mannosidosis, infantile form' SubClassOf 'Alpha-mannosidosis' 'Alpha-mannosidosis, infantile form' SubClassOf 'Alpha-mannosidosis' http://www.ebi.ac.uk/efo/EFO_1000375 Metaplastic Meningioma 'Metaplastic Meningioma' SubClassOf 'Meningioma' 'Metaplastic Meningioma' SubClassOf 'Meningioma' 'Metaplastic Meningioma' SubClassOf 'has_disease_location' some ('meninx' or ('part_of' some 'meninx')) http://www.ebi.ac.uk/efo/EFO_1000372 Meningothelial Meningioma 'Meningothelial Meningioma' SubClassOf 'Meningioma' 'Meningothelial Meningioma' SubClassOf 'has_disease_location' some ('meninx' or ('part_of' some 'meninx')) 'Meningothelial Meningioma' SubClassOf 'Meningioma' http://www.ebi.ac.uk/efo/EFO_1000373 Metanephric Adenoma 'Metanephric Adenoma' SubClassOf 'adenoma' 'Metanephric Adenoma' SubClassOf 'kidney neoplasm' 'Metanephric Adenoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002395 'Metanephric Adenoma' SubClassOf 'has_disease_location' some ('cortex of kidney' or ('part_of' some 'cortex of kidney')) 'Metanephric Adenoma' SubClassOf 'adenoma' 'Metanephric Adenoma' SubClassOf 'kidney neoplasm' http://www.orpha.net/ORDO/Orphanet_108963 Non-syndromic gastroduodenal malformation 'Non-syndromic gastroduodenal malformation' SubClassOf 'Gastroduodenal malformation' 'Non-syndromic gastroduodenal malformation' EquivalentTo 'Gastroduodenal malformation' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021128) 'Non-syndromic gastroduodenal malformation' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021128 'Non-syndromic gastroduodenal malformation' SubClassOf 'Gastroduodenal malformation' http://www.orpha.net/ORDO/Orphanet_108965 Syndromic gastroduodenal malformation 'Syndromic gastroduodenal malformation' SubClassOf 'Gastroduodenal malformation' 'Syndromic gastroduodenal malformation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Syndromic gastroduodenal malformation' EquivalentTo 'Gastroduodenal malformation' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021127) 'Syndromic gastroduodenal malformation' SubClassOf 'Gastroduodenal malformation' http://www.orpha.net/ORDO/Orphanet_371212 Congenital disorder of glycosylation with deafness as a major feature 'Congenital disorder of glycosylation with deafness as a major feature' SubClassOf 'Syndromic genetic deafness' 'Congenital disorder of glycosylation with deafness as a major feature' SubClassOf 'Congenital disorder of glycosylation with developmental anomaly' 'Congenital disorder of glycosylation with deafness as a major feature' SubClassOf 'Syndromic genetic deafness' 'Congenital disorder of glycosylation with deafness as a major feature' SubClassOf 'Congenital disorder of glycosylation with developmental anomaly' http://www.orpha.net/ORDO/Orphanet_156604 Genetic parenchymatous liver disease 'Genetic parenchymatous liver disease' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Genetic parenchymatous liver disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003847 'Genetic parenchymatous liver disease' SubClassOf 'liver disease' http://purl.obolibrary.org/obo/UBERON_0002345 descending thoracic aorta 'descending thoracic aorta' SubClassOf 'part_of' some 'thoracic aorta' 'descending thoracic aorta' SubClassOf 'develops_from' some 'aorta' 'descending thoracic aorta' SubClassOf 'develops_from' some 'trunk mesenchyme' 'descending thoracic aorta' SubClassOf 'develops_from' some 'endothelium' 'descending thoracic aorta' SubClassOf 'develops_from' some 'artery' http://www.orpha.net/ORDO/Orphanet_108967 Non-syndromic intestinal malformation 'Non-syndromic intestinal malformation' SubClassOf 'Intestinal malformation' 'Non-syndromic intestinal malformation' EquivalentTo 'Intestinal malformation' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021128) 'Non-syndromic intestinal malformation' SubClassOf 'Intestinal malformation' 'Non-syndromic intestinal malformation' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021128 http://purl.obolibrary.org/obo/UBERON_0001015 musculature 'musculature' SubClassOf 'part_of' some 'musculature of body' http://purl.obolibrary.org/obo/UBERON_0001016 nervous system 'respiratory system' DisjointWith 'nervous system' 'nervous system' SubClassOf 'develops_from' some 'ectoderm' 'nervous system' DisjointWith 'immune system' 'nervous system' DisjointWith http://purl.obolibrary.org/obo/UBERON_0002330 'nervous system' DisjointWith 'gustatory system' 'nervous system' DisjointWith 'hepatobiliary system' 'nervous system' DisjointWith http://purl.obolibrary.org/obo/UBERON_0004456 'nervous system' DisjointWith http://purl.obolibrary.org/obo/UBERON_0002204 'circulatory system' DisjointWith 'nervous system' 'reproductive system' DisjointWith 'nervous system' 'nervous system' DisjointWith 'biliary system' 'renal system' DisjointWith 'nervous system' 'nervous system' DisjointWith 'hematopoietic system' 'endocrine system' DisjointWith 'nervous system' 'nervous system' DisjointWith 'skeletal system' 'digestive system' DisjointWith 'nervous system' 'nervous system' DisjointWith 'integumental system' http://www.orpha.net/ORDO/Orphanet_156601 Rare genetic hepatic disease 'Rare genetic hepatic disease' SubClassOf 'has_disease_location' some 'hepatobiliary system' http://www.orpha.net/ORDO/Orphanet_108969 Syndromic intestinal malformation 'Syndromic intestinal malformation' SubClassOf 'Intestinal malformation' 'Syndromic intestinal malformation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Syndromic intestinal malformation' SubClassOf 'Intestinal malformation' 'Syndromic intestinal malformation' EquivalentTo 'Intestinal malformation' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021127) http://www.ebi.ac.uk/efo/EFO_1000381 Mixed Epithelial Stromal Tumor of the Kidney 'Mixed Epithelial Stromal Tumor of the Kidney' SubClassOf 'kidney neoplasm' 'Mixed Epithelial Stromal Tumor of the Kidney' SubClassOf 'has_disease_location' some ('kidney' or ('part_of' some 'kidney')) 'Mixed Epithelial Stromal Tumor of the Kidney' SubClassOf 'kidney neoplasm' http://www.ebi.ac.uk/efo/EFO_1000382 Mixed Lobular and Ductal Breast Carcinoma 'Mixed Lobular and Ductal Breast Carcinoma' SubClassOf 'breast adenocarcinoma' 'Mixed Lobular and Ductal Breast Carcinoma' SubClassOf 'breast adenocarcinoma' 'Mixed Lobular and Ductal Breast Carcinoma' SubClassOf 'Malignant Mixed Neoplasm' 'Mixed Lobular and Ductal Breast Carcinoma' SubClassOf 'has_disease_location' some ('breast' or ('part_of' some 'breast')) http://www.orpha.net/ORDO/Orphanet_309252 Atypical Gaucher disease due to saposin C deficiency 'Atypical Gaucher disease due to saposin C deficiency' SubClassOf 'Gaucher disease' 'Atypical Gaucher disease due to saposin C deficiency' SubClassOf 'Gaucher disease' http://www.ebi.ac.uk/efo/EFO_1000380 Mixed Cell Uveal Melanoma 'Mixed Cell Uveal Melanoma' SubClassOf 'melanoma' 'Mixed Cell Uveal Melanoma' SubClassOf 'eye disease' 'Mixed Cell Uveal Melanoma' SubClassOf 'head and neck neoplasia' 'Mixed Cell Uveal Melanoma' SubClassOf 'melanoma' 'Mixed Cell Uveal Melanoma' SubClassOf 'has_disease_location' some ('iris' or ('part_of' some 'iris')) 'Mixed Cell Uveal Melanoma' SubClassOf 'Uveal Melanoma' http://www.orpha.net/ORDO/Orphanet_309256 Metachromatic leukodystrophy, late infantile form 'Metachromatic leukodystrophy, late infantile form' SubClassOf 'Metachromatic leukodystrophy' 'Metachromatic leukodystrophy, late infantile form' SubClassOf 'Metachromatic leukodystrophy, juvenile form' http://www.ebi.ac.uk/efo/EFO_1000389 Myofibroma 'Myofibroma' SubClassOf 'fibroma' 'Myofibroma' SubClassOf 'fibroma' 'Myofibroma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001572 'Myofibroma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003342 http://www.orpha.net/ORDO/Orphanet_33069 Dravet syndrome 'Dravet syndrome' SubClassOf 'epilepsy' 'Dravet syndrome' SubClassOf 'Channelopathy with epilepsy' 'Dravet syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Dravet syndrome' SubClassOf 'epilepsy' 'Dravet syndrome' SubClassOf 'Early infantile epileptic encephalopathy' 'Dravet syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000413 http://www.ebi.ac.uk/efo/EFO_1000387 obsolete_mucinuos carcinoma 'obsolete_mucinuos carcinoma' SubClassOf 'obsolete class' 'obsolete_mucinuos carcinoma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_33067 Metaphyseal chondrodysplasia, Jansen type 'Metaphyseal chondrodysplasia, Jansen type' SubClassOf 'Multiple metaphyseal dysplasia' 'Metaphyseal chondrodysplasia, Jansen type' SubClassOf 'Multiple metaphyseal dysplasia' 'Metaphyseal chondrodysplasia, Jansen type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000841 http://www.ebi.ac.uk/efo/EFO_1000388 Myelodysplastic/Myeloproliferative Neoplasm 'Myelodysplastic/Myeloproliferative Neoplasm' SubClassOf 'myeloid neoplasm' 'Myelodysplastic/Myeloproliferative Neoplasm' SubClassOf 'myeloid neoplasm' 'Myelodysplastic/Myeloproliferative Neoplasm' SubClassOf 'chronic myeloproliferative disorder' http://www.ebi.ac.uk/efo/EFO_1000385 Mixed Tumor of the Skin 'Mixed Tumor of the Skin' SubClassOf 'skin neoplasm' 'Mixed Tumor of the Skin' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002090 'Mixed Tumor of the Skin' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021043 'Mixed Tumor of the Skin' SubClassOf 'neoplasm' 'Mixed Tumor of the Skin' SubClassOf 'has_disease_location' some ('zone of skin' or ('part_of' some 'zone of skin')) http://www.ebi.ac.uk/efo/EFO_1000386 Mucinous Gastric Adenocarcinoma 'Mucinous Gastric Adenocarcinoma' SubClassOf 'gastric adenocarcinoma' 'Mucinous Gastric Adenocarcinoma' SubClassOf 'mucinous carcinoma' 'Mucinous Gastric Adenocarcinoma' SubClassOf 'has_disease_location' some ('stomach' or ('part_of' some 'stomach')) 'Mucinous Gastric Adenocarcinoma' SubClassOf 'gastric adenocarcinoma' 'Mucinous Gastric Adenocarcinoma' SubClassOf 'mucinous carcinoma' http://www.ebi.ac.uk/efo/EFO_1000383 Mixed Somatotroph-Lactotroph Pituitary Gland Adenoma 'Mixed Somatotroph-Lactotroph Pituitary Gland Adenoma' SubClassOf 'adenoma' 'Mixed Somatotroph-Lactotroph Pituitary Gland Adenoma' SubClassOf 'endocrine neoplasm' 'Mixed Somatotroph-Lactotroph Pituitary Gland Adenoma' SubClassOf 'adenoma' 'Mixed Somatotroph-Lactotroph Pituitary Gland Adenoma' SubClassOf 'has_disease_location' some ('pituitary gland' or ('part_of' some 'pituitary gland')) 'Mixed Somatotroph-Lactotroph Pituitary Gland Adenoma' SubClassOf 'endocrine neoplasm' http://www.ebi.ac.uk/efo/EFO_1000384 Mixed Tumor of the Salivary Gland 'Mixed Tumor of the Salivary Gland' SubClassOf 'salivary gland neoplasm' 'Mixed Tumor of the Salivary Gland' SubClassOf 'has_disease_location' some ('saliva-secreting gland' or ('part_of' some 'saliva-secreting gland')) 'Mixed Tumor of the Salivary Gland' SubClassOf 'digestive system neoplasm' 'Mixed Tumor of the Salivary Gland' SubClassOf 'salivary gland disease' 'Mixed Tumor of the Salivary Gland' SubClassOf 'head and neck neoplasia' 'Mixed Tumor of the Salivary Gland' SubClassOf 'salivary gland neoplasm' http://www.ebi.ac.uk/efo/EFO_0002912 characterization of functional areas of human genome 'characterization of functional areas of human genome' SubClassOf 'has_participant' some 'The International HapMap Project' http://www.ebi.ac.uk/efo/EFO_0002914 uterine sarcoma 'uterine sarcoma' SubClassOf 'uterine neoplasm' 'uterine sarcoma' SubClassOf 'sarcoma' 'uterine sarcoma' SubClassOf 'has_disease_location' some 'uterus' 'uterine sarcoma' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'uterine sarcoma' SubClassOf 'sarcoma' 'uterine sarcoma' SubClassOf 'uterine corpus cancer' http://www.ebi.ac.uk/efo/EFO_0002913 Cutaneous T-cell lymphoma 'Cutaneous T-cell lymphoma' SubClassOf 'skin neoplasm' 'Cutaneous T-cell lymphoma' SubClassOf 'has_disease_location' some ('zone of skin' or ('part_of' some 'zone of skin')) 'Cutaneous T-cell lymphoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018898 http://www.ebi.ac.uk/efo/EFO_0002916 esophageal carcinoma 'esophageal carcinoma' EquivalentTo 'carcinoma' and ('has_disease_location' some 'esophagus') http://www.ebi.ac.uk/efo/EFO_0002915 obsolete_rectal carcinoma 'obsolete_rectal carcinoma' SubClassOf 'obsolete class' 'obsolete_rectal carcinoma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002918 rhabdomyosarcoma 'rhabdomyosarcoma' SubClassOf 'sarcoma' 'rhabdomyosarcoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002847 'rhabdomyosarcoma' SubClassOf 'soft tissue sarcoma' 'rhabdomyosarcoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016123 http://www.ebi.ac.uk/efo/EFO_0002917 ovarian serous adenocarcinoma 'ovarian serous adenocarcinoma' SubClassOf 'ovarian neoplasm' 'ovarian serous adenocarcinoma' SubClassOf 'serous adenocarcinoma' 'ovarian serous adenocarcinoma' SubClassOf 'ovarian adenocarcinoma' 'ovarian serous adenocarcinoma' SubClassOf 'has_disease_location' some 'female gonad' 'ovarian serous adenocarcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024885 'ovarian serous adenocarcinoma' SubClassOf 'serous adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0002919 uterine carcinoma 'uterine carcinoma' SubClassOf 'carcinoma' 'uterine carcinoma' SubClassOf 'carcinoma' 'uterine carcinoma' SubClassOf 'has_disease_location' some 'uterus' 'uterine carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002715 http://www.ebi.ac.uk/efo/EFO_1000392 Neoplastic Medium-Sized B-Lymphocyte with Basophilic Cytoplasm 'Neoplastic Medium-Sized B-Lymphocyte with Basophilic Cytoplasm' SubClassOf 'neoplasm' 'Neoplastic Medium-Sized B-Lymphocyte with Basophilic Cytoplasm' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004805 'Neoplastic Medium-Sized B-Lymphocyte with Basophilic Cytoplasm' SubClassOf 'neoplasm' 'Neoplastic Medium-Sized B-Lymphocyte with Basophilic Cytoplasm' SubClassOf 'has_disease_location' some ('lymph node' or ('part_of' some 'lymph node')) 'Neoplastic Medium-Sized B-Lymphocyte with Basophilic Cytoplasm' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002334 'Neoplastic Medium-Sized B-Lymphocyte with Basophilic Cytoplasm' SubClassOf 'has_disease_location' some 'lymphocyte of B lineage' http://www.ebi.ac.uk/efo/EFO_1000393 Neuroblastic Tumor 'Neuroblastic Tumor' SubClassOf 'primitive neuroectodermal tumor' 'Neuroblastic Tumor' SubClassOf 'primitive neuroectodermal tumor' 'Neuroblastic Tumor' SubClassOf 'has_disease_location' some ('nervous system' or ('part_of' some 'nervous system')) http://www.orpha.net/ORDO/Orphanet_309263 Metachromatic leukodystrophy, juvenile form 'Metachromatic leukodystrophy, juvenile form' SubClassOf 'Metachromatic leukodystrophy' 'Metachromatic leukodystrophy, juvenile form' SubClassOf 'Metachromatic leukodystrophy' http://www.ebi.ac.uk/efo/EFO_1000390 Nabothian Cyst 'Nabothian Cyst' SubClassOf 'female reproductive system disease' 'Nabothian Cyst' SubClassOf 'urogenital neoplasm' 'Nabothian Cyst' SubClassOf 'neoplasm' 'Nabothian Cyst' SubClassOf 'has_disease_location' some ('uterine cervix' or ('part_of' some 'uterine cervix')) 'Nabothian Cyst' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021230 http://www.ebi.ac.uk/efo/EFO_1000391 Nasal Cavity Polyp 'Nasal Cavity Polyp' SubClassOf 'head and neck neoplasia' 'Nasal Cavity Polyp' SubClassOf 'polyp' 'Nasal Cavity Polyp' SubClassOf 'respiratory system neoplasm' 'Nasal Cavity Polyp' SubClassOf 'has_disease_location' some ('olfactory pit' or ('part_of' some 'olfactory pit')) 'Nasal Cavity Polyp' SubClassOf 'polyp' 'Nasal Cavity Polyp' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004756 http://www.orpha.net/ORDO/Orphanet_69028 Syndrome with brachydactyly 'Syndrome with brachydactyly' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' 'Syndrome with brachydactyly' SubClassOf 'Genetic syndrome with limb malformations as a major feature' 'Syndrome with brachydactyly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021004 'Syndrome with brachydactyly' SubClassOf 'Genetic syndrome with limb malformations as a major feature' http://www.ebi.ac.uk/efo/EFO_1000398 Non-Functional Pancreatic Neuroendocrine Tumor 'Non-Functional Pancreatic Neuroendocrine Tumor' SubClassOf 'pancreatic neoplasm' 'Non-Functional Pancreatic Neuroendocrine Tumor' SubClassOf 'endocrine neoplasm' 'Non-Functional Pancreatic Neuroendocrine Tumor' SubClassOf 'pancreatic neoplasm' 'Non-Functional Pancreatic Neuroendocrine Tumor' SubClassOf 'has_disease_location' some ('pancreas' or ('part_of' some 'pancreas')) http://www.ebi.ac.uk/efo/EFO_1000399 Non-Functioning Adrenal Cortex Adenoma 'Non-Functioning Adrenal Cortex Adenoma' SubClassOf 'adenoma' 'Non-Functioning Adrenal Cortex Adenoma' SubClassOf 'endocrine neoplasm' 'Non-Functioning Adrenal Cortex Adenoma' SubClassOf 'endocrine neoplasm' 'Non-Functioning Adrenal Cortex Adenoma' SubClassOf 'adenoma' 'Non-Functioning Adrenal Cortex Adenoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021119 'Non-Functioning Adrenal Cortex Adenoma' SubClassOf 'adrenocortical adenoma' 'Non-Functioning Adrenal Cortex Adenoma' SubClassOf 'has_disease_location' some ('adrenal cortex' or ('part_of' some 'adrenal cortex')) http://www.ebi.ac.uk/efo/EFO_1000396 Nevus of Ota 'Nevus of Ota' SubClassOf 'nevus' 'Nevus of Ota' SubClassOf 'has_disease_location' some ('dermis' or ('part_of' some 'dermis')) 'Nevus of Ota' SubClassOf 'nevus' 'Nevus of Ota' SubClassOf 'melanocytic nevus' 'Nevus of Ota' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://www.ebi.ac.uk/efo/EFO_1000397 Non-Cutaneous Melanoma 'Non-Cutaneous Melanoma' SubClassOf 'melanoma' 'Non-Cutaneous Melanoma' SubClassOf 'melanoma' 'cutaneous melanoma' DisjointWith 'Non-Cutaneous Melanoma' http://www.ebi.ac.uk/efo/EFO_1000394 Neurothekeoma 'Neurothekeoma' SubClassOf 'neoplasm' 'Neurothekeoma' SubClassOf 'neoplasm' 'Neurothekeoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002547 'Neurothekeoma' SubClassOf 'has_disease_location' some ('myelin sheath' or ('part_of' some 'myelin sheath')) http://www.ebi.ac.uk/efo/EFO_1000395 Nevus of Ito 'Nevus of Ito' SubClassOf 'nevus' 'Nevus of Ito' SubClassOf 'has_disease_location' some ('dermis' or ('part_of' some 'dermis')) 'Nevus of Ito' SubClassOf 'nevus' 'Nevus of Ito' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Nevus of Ito' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'Nevus of Ota' 'Nevus of Ito' SubClassOf 'melanocytic nevus' http://www.ebi.ac.uk/efo/EFO_0002901 micromole per liter 'micromolar' EquivalentTo 'micromole per liter' http://www.orpha.net/ORDO/Orphanet_371235 Congenital disorder of glycosylation with developmental anomaly 'Congenital disorder of glycosylation with developmental anomaly' SubClassOf 'Developmental anomaly of metabolic origin' 'Congenital disorder of glycosylation with developmental anomaly' SubClassOf 'Congenital disorder of glycosylation' 'Congenital disorder of glycosylation with developmental anomaly' SubClassOf 'Developmental anomaly of metabolic origin' http://www.ebi.ac.uk/efo/EFO_0002907 population growth assay 'population growth assay' SubClassOf 'has_input' some 'population' http://www.ebi.ac.uk/efo/EFO_0002906 obsolete_whole organism 'obsolete_whole organism' SubClassOf 'obsolete class' 'obsolete_whole organism' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002909 microscopy assay 'microscopy assay' SubClassOf 'has_input' some 'material entity' http://www.ebi.ac.uk/efo/EFO_0002908 motility assay 'motility assay' SubClassOf 'has_input' some 'population' http://purl.obolibrary.org/obo/UBERON_6005436 trunk mesoderm anlage 'trunk mesoderm anlage' SubClassOf 'anlage' 'trunk mesoderm anlage' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_6005434 visual anlage 'visual anlage' SubClassOf 'anlage' 'visual anlage' SubClassOf 'embryonic structure' http://www.ebi.ac.uk/efo/EFO_0002934 lung cancer cell line 'lung cancer cell line' SubClassOf 'develops_from' some 'lung cancer cell' 'lung cancer cell line' EquivalentTo 'bearer_of' some 'lung carcinoma' http://www.ebi.ac.uk/efo/EFO_0002933 HapMap cell line 'HapMap cell line' EquivalentTo 'cultured cell' and ('is_input_of' some 'HapMap haplotype mapping') http://www.ebi.ac.uk/efo/EFO_0002936 rat cell line 'rat cell line' EquivalentTo 'derives_from' some ('cell type' and ('part_of' some (('developmental stage' or 'organism part') and ('part_of' some 'Rattus')))) http://www.ebi.ac.uk/efo/EFO_0002935 Drosophila melanogaster cell line 'Drosophila melanogaster cell line' EquivalentTo 'derives_from' some ('cell type' and ('part_of' some (('developmental stage' or 'organism part') and ('part_of' some 'Drosophila melanogaster')))) http://www.ebi.ac.uk/efo/EFO_0002938 hypopharyngeal carcinoma 'hypopharyngeal carcinoma' SubClassOf 'respiratory system neoplasm' 'hypopharyngeal carcinoma' SubClassOf 'carcinoma' 'hypopharyngeal carcinoma' SubClassOf 'digestive system disease' 'hypopharyngeal carcinoma' SubClassOf 'hypopharynx cancer' 'hypopharyngeal carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021345 'hypopharyngeal carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002038 'hypopharyngeal carcinoma' SubClassOf 'has_disease_location' some 'hypopharynx' http://www.ebi.ac.uk/efo/EFO_0002937 lymphoma or leukaemia cell line 'lymphoma or leukaemia cell line' EquivalentTo 'bearer_of' some ('leukemia' or 'lymphoma') http://www.ebi.ac.uk/efo/EFO_0002939 medulloblastoma 'medulloblastoma' SubClassOf 'embryonal neoplasm' 'medulloblastoma' SubClassOf 'brain neoplasm' 'medulloblastoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016708 'medulloblastoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002913 'medulloblastoma' SubClassOf 'has_disease_location' some 'brain' http://www.orpha.net/ORDO/Orphanet_309239 Tay-Sachs disease, B1 variant 'Tay-Sachs disease, B1 variant' SubClassOf 'Tay-Sachs disease' 'Tay-Sachs disease, B1 variant' SubClassOf 'Tay-Sachs disease' http://www.orpha.net/ORDO/Orphanet_216804 Osteogenesis imperfecta type 2 'Osteogenesis imperfecta type 2' SubClassOf 'Osteogenesis imperfecta' 'Osteogenesis imperfecta type 2' SubClassOf 'Osteogenesis imperfecta' http://www.orpha.net/ORDO/Orphanet_309246 GM2-gangliosidosis, AB variant 'GM2-gangliosidosis, AB variant' SubClassOf 'GM2 gangliosidosis' 'GM2-gangliosidosis, AB variant' SubClassOf 'GM2 gangliosidosis' http://purl.obolibrary.org/obo/UBERON_6005425 visual anlage in statu nascendi 'visual anlage in statu nascendi' SubClassOf 'anlage in statu nascendi' http://www.ebi.ac.uk/efo/EFO_0002921 vulvar carcinoma 'vulvar carcinoma' SubClassOf 'carcinoma' 'vulvar carcinoma' SubClassOf 'female reproductive system disease' 'vulvar carcinoma' SubClassOf 'urogenital neoplasm' 'vulvar carcinoma' SubClassOf 'carcinoma' 'vulvar carcinoma' SubClassOf 'has_disease_location' some 'mammalian vulva' 'vulvar carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001528 http://www.ebi.ac.uk/efo/EFO_0002920 vulva sarcoma 'vulva sarcoma' SubClassOf 'sarcoma' 'vulva sarcoma' SubClassOf 'urogenital neoplasm' 'vulva sarcoma' SubClassOf 'female reproductive system disease' 'vulva sarcoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001528 'vulva sarcoma' SubClassOf 'has_disease_location' some 'mammalian vulva' 'vulva sarcoma' SubClassOf 'soft tissue sarcoma' http://www.ebi.ac.uk/efo/EFO_0002923 obsolete_retinoblastoma 'obsolete_retinoblastoma' SubClassOf 'obsolete class' 'obsolete_retinoblastoma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002922 normal cell line 'normal cell line' EquivalentTo 'cultured cell' and ('bearer_of' some 'normal') http://www.ebi.ac.uk/efo/EFO_0002924 HapMap haplotype mapping 'HapMap haplotype mapping' SubClassOf 'has_participant' some 'The International HapMap Project' http://www.ebi.ac.uk/efo/EFO_0002926 ENCODE cell line 'ENCODE cell line' EquivalentTo 'cultured cell' and ('is_input_of' some 'ENCODE functional genome mapping') http://purl.obolibrary.org/obo/CLO_0013177 GM17268 'GM17268' SubClassOf 'cultured cell' 'GM17268' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17268' SubClassOf 'has_quality' some 'male' http://purl.obolibrary.org/obo/CLO_0013176 GM17269 'GM17269' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17269' SubClassOf 'cultured cell' 'GM17269' SubClassOf 'has_quality' some 'male' http://purl.obolibrary.org/obo/CLO_0013173 GM17262 'GM17262' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17262' SubClassOf 'has_quality' some 'female' 'GM17262' SubClassOf 'cultured cell' http://purl.obolibrary.org/obo/UBERON_6005413 anlage in statu nascendi 'anlage in statu nascendi' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/CLO_0013179 GM17267 'GM17267' SubClassOf 'cultured cell' 'GM17267' SubClassOf 'has_quality' some 'female' 'GM17267' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0002956 musculo-skeletal system cell 'musculo-skeletal system cell' SubClassOf 'cell type' and ('located_in' some 'musculature of body') 'musculo-skeletal system cell' EquivalentTo 'cell type' and ('located_in' some ('musculature of body' or 'skeletal system')) http://purl.obolibrary.org/obo/UBERON_0002391 lymph 'lymph' SubClassOf 'animal component' 'lymph' SubClassOf http://purl.obolibrary.org/obo/UBERON_0000179 'lymph' SubClassOf 'develops_from' some 'blood island' http://www.ebi.ac.uk/efo/EFO_0002955 reproductive system cell 'reproductive system cell' EquivalentTo 'cell type' and ('located_in' some ('reproductive system' or 'plant reproductive system structure')) http://www.ebi.ac.uk/efo/EFO_0002958 experimental cell 'experimental cell' EquivalentTo 'cell type' and ('participates_in' some 'experimental process') http://purl.obolibrary.org/obo/UBERON_0002394 bile duct 'bile duct' SubClassOf 'part_of' some 'liver' http://www.ebi.ac.uk/efo/EFO_0002957 2102Ep '2102Ep' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('embryo' and ('part_of' some 'Homo sapiens')))) '2102Ep' SubClassOf 'bearer_of' some 'carcinoma' http://www.ebi.ac.uk/efo/EFO_0002959 NTera2 'NTera2' SubClassOf 'bearer_of' some 'carcinoma' 'NTera2' SubClassOf 'derives_from' some ('embryonic stem cell' and ('part_of' some ('embryo' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/CHEBI_3237 butein 'butein' SubClassOf 'has_role' some 'antineoplastic agent' http://purl.obolibrary.org/obo/UBERON_0002390 hematopoietic system http://purl.obolibrary.org/obo/UBERON_0002330 DisjointWith 'hematopoietic system' http://purl.obolibrary.org/obo/UBERON_0002204 DisjointWith 'hematopoietic system' 'digestive system' DisjointWith 'hematopoietic system' 'endocrine system' DisjointWith 'hematopoietic system' 'circulatory system' DisjointWith 'hematopoietic system' 'renal system' DisjointWith 'hematopoietic system' 'reproductive system' DisjointWith 'hematopoietic system' 'skeletal system' DisjointWith 'hematopoietic system' 'biliary system' DisjointWith 'hematopoietic system' 'nervous system' DisjointWith 'hematopoietic system' 'respiratory system' DisjointWith 'hematopoietic system' 'hematopoietic system' DisjointWith 'hepatobiliary system' 'hematopoietic system' DisjointWith 'integumental system' 'hematopoietic system' DisjointWith http://purl.obolibrary.org/obo/UBERON_0004456 'gustatory system' DisjointWith 'hematopoietic system' 'hematopoietic system' DisjointWith 'immune system' http://purl.obolibrary.org/obo/UBERON_0001066 intervertebral disk 'intervertebral disk' SubClassOf 'part_of' some 'vertebral column structure' http://www.orpha.net/ORDO/Orphanet_276432 Premature aging appearance-developmental delay-cardiac arrhythmia syndrome 'Premature aging appearance-developmental delay-cardiac arrhythmia syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015333 'Premature aging appearance-developmental delay-cardiac arrhythmia syndrome' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Premature aging appearance-developmental delay-cardiac arrhythmia syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044976 'Premature aging appearance-developmental delay-cardiac arrhythmia syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000425 http://www.orpha.net/ORDO/Orphanet_276435 Lower motor neuron syndrome with late-adult onset 'Lower motor neuron syndrome with late-adult onset' SubClassOf 'Autosomal dominant proximal spinal muscular atrophy' 'Lower motor neuron syndrome with late-adult onset' SubClassOf 'Autosomal dominant proximal spinal muscular atrophy' http://purl.obolibrary.org/obo/CLO_0013183 GM17261 'GM17261' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17261' SubClassOf 'cultured cell' 'GM17261' SubClassOf 'has_quality' some 'female' http://purl.obolibrary.org/obo/CLO_0013182 GM17260 'GM17260' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17260' SubClassOf 'cultured cell' 'GM17260' SubClassOf 'has_quality' some 'female' http://purl.obolibrary.org/obo/UBERON_0014371 presumptive telencephalon 'presumptive telencephalon' SubClassOf http://purl.obolibrary.org/obo/UBERON_0006598 http://purl.obolibrary.org/obo/CLO_0013181 GM17266 'GM17266' SubClassOf 'has_quality' some 'female' 'GM17266' SubClassOf 'cultured cell' 'GM17266' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/UBERON_0014374 embryoid body 'embryoid body' SubClassOf 'embryonic structure' 'embryoid body' SubClassOf 'embryonic structure' http://www.ebi.ac.uk/efo/EFO_0002941 transcription profiling by SAGE 'transcription profiling by SAGE' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'messenger RNA')) http://www.ebi.ac.uk/efo/EFO_0002940 zebrafish cell line 'zebrafish cell line' EquivalentTo 'derives_from' some ('cell type' and ('part_of' some (('developmental stage' or 'organism part') and ('part_of' some 'Danio rerio')))) http://www.ebi.ac.uk/efo/EFO_0002942 transcription profiling by MPSS 'transcription profiling by MPSS' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'messenger RNA')) http://www.ebi.ac.uk/efo/EFO_0002945 familial cardiomyopathy 'familial cardiomyopathy' SubClassOf 'cardiomyopathy' 'familial cardiomyopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003847 'familial cardiomyopathy' SubClassOf 'cardiomyopathy' 'familial cardiomyopathy' EquivalentTo 'cardiomyopathy' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) http://www.ebi.ac.uk/efo/EFO_0002946 obsolete_alpha-1-antitrypsin deficiency 'obsolete_alpha-1-antitrypsin deficiency' SubClassOf 'obsolete class' 'obsolete_alpha-1-antitrypsin deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/UBERON_0001070 external carotid artery 'external carotid artery' SubClassOf 'artery' 'external carotid artery' SubClassOf 'carotid artery' 'external carotid artery' SubClassOf 'develops_from' some 'pharyngeal arch artery' 'external carotid artery' SubClassOf 'part_of' some 'artery' http://www.orpha.net/ORDO/Orphanet_264450 Trisomy 8p 'Trisomy 8p' SubClassOf 'Partial duplication of the short arm of chromosome 8' 'Trisomy 8p' SubClassOf 'Partial duplication of the short arm of chromosome 8' http://www.orpha.net/ORDO/Orphanet_276422 10q22.3q23.3 microduplication syndrome '10q22.3q23.3 microduplication syndrome' SubClassOf 'Partial duplication of the long arm of chromosome 10' '10q22.3q23.3 microduplication syndrome' SubClassOf 'Partial duplication of the long arm of chromosome 10' http://www.ebi.ac.uk/efo/EFO_0002970 muscular disease 'muscular disease' SubClassOf 'skeletal system disease' 'muscular disease' EquivalentTo 'disease' and ('has_disease_location' some ('musculature' or ('part_of' some 'musculature'))) 'muscular disease' SubClassOf 'musculoskeletal system disease' http://www.ebi.ac.uk/efo/EFO_0001641 epithelial cell derived cell line 'epithelial cell derived cell line' EquivalentTo 'derives_from' some ('epithelial cell' and ('part_of' some (('developmental stage' or 'organism part') and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_0001640 B cell derived cell line 'B cell derived cell line' EquivalentTo 'derives_from' some ('B cell' and ('part_of' some (('developmental stage' or 'organism part') and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_0000310 obsolete_calpainopathy 'obsolete_calpainopathy' SubClassOf 'obsolete class' 'obsolete_calpainopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001643 kidney derived cell line 'kidney derived cell line' EquivalentTo 'derives_from' some ('cell type' and ('part_of' some ('kidney' and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_0000311 cancer 'cancer' SubClassOf 'neoplasm' 'cancer' DisjointWith 'benign neoplasm' 'cancer' SubClassOf 'neoplasm' http://www.ebi.ac.uk/efo/EFO_0001642 lymphoid neoplasm 'lymphoid neoplasm' SubClassOf 'hematologic disease' 'lymphoid neoplasm' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044881 'lymphoid neoplasm' SubClassOf 'has_disease_location' some ('hematopoietic system' or ('part_of' some 'hematopoietic system')) http://www.ebi.ac.uk/efo/EFO_0000312 cancer site 'cancer site' DisjointWith 'control' 'normal' DisjointWith 'cancer site' 'cancer site' DisjointWith 'uninfected' http://www.ebi.ac.uk/efo/EFO_0000313 carcinoma 'carcinoma' SubClassOf 'cancer' 'carcinoma' SubClassOf 'epithelial neoplasm' 'carcinoma' SubClassOf 'cancer' 'carcinoma' SubClassOf 'has_disease_location' some 'epithelial cell' 'carcinoma' SubClassOf 'epithelial neoplasm' http://www.ebi.ac.uk/efo/EFO_0001645 coronary heart disease 'coronary heart disease' SubClassOf 'has_disease_location' some 'heart' http://www.ebi.ac.uk/efo/EFO_0001644 obsolete_stria vascularis 'obsolete_stria vascularis' SubClassOf 'obsolete class' 'obsolete_stria vascularis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/UBERON_0001083 myocardium of ventricle 'myocardium of ventricle' SubClassOf 'cardiac ventricle' 'myocardium of ventricle' SubClassOf 'myocardium' 'myocardium of ventricle' SubClassOf 'cardiac ventricle' http://www.ebi.ac.uk/efo/EFO_0000317 obsolete_cardiac ventricle 'obsolete_cardiac ventricle' SubClassOf 'obsolete class' 'obsolete_cardiac ventricle' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001649 obsolete_anlage 'obsolete_anlage' SubClassOf 'obsolete class' 'obsolete_anlage' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000318 cardiomyopathy 'cardiomyopathy' SubClassOf 'heart disease' 'cardiomyopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003939 'cardiomyopathy' EquivalentTo 'has_disease_location' some 'myocardium' 'cardiomyopathy' SubClassOf 'heart disease' 'cardiomyopathy' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://www.ebi.ac.uk/efo/EFO_0000319 cardiovascular disease 'cardiovascular disease' SubClassOf 'disease' 'cardiovascular disease' DisjointWith 'uninfected' 'cardiovascular disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021199 'cardiovascular disease' EquivalentTo 'has_disease_location' some ('cardiovascular system' or ('part_of' some 'cardiovascular system')) http://www.orpha.net/ORDO/Orphanet_82004 Ehlers-Danlos syndrome with periventricular heterotopia 'Ehlers-Danlos syndrome with periventricular heterotopia' SubClassOf 'Rare disease with thoracic aortic aneurysm and aortic dissection' 'Ehlers-Danlos syndrome with periventricular heterotopia' SubClassOf 'Ehlers-Danlos syndrome' 'Ehlers-Danlos syndrome with periventricular heterotopia' SubClassOf 'Rare disease with thoracic aortic aneurysm and aortic dissection' 'Ehlers-Danlos syndrome with periventricular heterotopia' SubClassOf 'Ehlers-Danlos syndrome' 'Ehlers-Danlos syndrome with periventricular heterotopia' SubClassOf 'disease has feature' some 'Periventricular nodular heterotopia' http://purl.obolibrary.org/obo/CLO_0013163 GM17265 'GM17265' SubClassOf 'cultured cell' 'GM17265' SubClassOf 'has_quality' some 'female' 'GM17265' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0002961 NTera2 derived dopaminergic neuronal like cells 'NTera2 derived dopaminergic neuronal like cells' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('embryo' and ('part_of' some 'Homo sapiens')))) 'NTera2 derived dopaminergic neuronal like cells' SubClassOf 'bearer_of' some 'carcinoma' http://www.ebi.ac.uk/efo/EFO_0002960 BG03 'BG03' SubClassOf 'derives_from' some ('embryonic stem cell' and ('part_of' some ('embryo' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0002963 nervous system cell 'nervous system cell' EquivalentTo 'cell type' and ('located_in' some ('peripheral nervous system' or 'nervous system' or 'central nervous system')) http://purl.obolibrary.org/obo/CLO_0013169 GM17263 'GM17263' SubClassOf 'has_quality' some 'female' 'GM17263' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17263' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0002962 animal reproductive system cell 'animal reproductive system cell' EquivalentTo 'cell type' and ('located_in' some 'reproductive system') http://www.ebi.ac.uk/efo/EFO_0000301 obsolete_bone marrow MMHCC 'obsolete_bone marrow MMHCC' SubClassOf 'obsolete class' 'obsolete_bone marrow MMHCC' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/CLO_0013168 GM17264 'GM17264' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17264' SubClassOf 'has_quality' some 'male' 'GM17264' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0000302 obsolete_brain 'obsolete_brain' SubClassOf 'obsolete class' 'obsolete_brain' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000304 breast adenocarcinoma 'breast adenocarcinoma' SubClassOf 'adenocarcinoma' 'breast adenocarcinoma' SubClassOf 'breast neoplasm' 'breast adenocarcinoma' SubClassOf 'breast carcinoma' 'breast adenocarcinoma' SubClassOf 'adenocarcinoma' 'breast adenocarcinoma' SubClassOf 'has_disease_location' some 'mammary gland' 'breast adenocarcinoma' SubClassOf 'breast carcinoma' 'breast adenocarcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000653 http://www.orpha.net/ORDO/Orphanet_264431 Partial duplication of the short arm of chromosome 1 'Partial duplication of the short arm of chromosome 1' SubClassOf 'Partial duplication of chromosome 1' 'Partial duplication of the short arm of chromosome 1' SubClassOf 'Partial duplication of chromosome 1' http://www.ebi.ac.uk/efo/EFO_0002966 pancreatic cell 'pancreatic cell' EquivalentTo 'cell type' and ('located_in' some 'pancreas') http://www.ebi.ac.uk/efo/EFO_0000305 breast carcinoma 'breast carcinoma' SubClassOf 'carcinoma' 'breast carcinoma' SubClassOf 'carcinoma' 'breast carcinoma' EquivalentTo 'carcinoma' and ('has_disease_location' some ('breast' or ('part_of' some 'breast'))) 'breast carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0007254 'breast carcinoma' SubClassOf 'has_disease_location' some ('breast' or ('part_of' some 'breast')) http://www.ebi.ac.uk/efo/EFO_0000306 breast tumor luminal 'breast tumor luminal' SubClassOf 'breast carcinoma' 'breast tumor luminal' SubClassOf 'Breast Carcinoma by Gene Expression Profile' http://www.ebi.ac.uk/efo/EFO_0002969 obsolete_endocrine system 'obsolete_endocrine system' SubClassOf 'obsolete class' 'obsolete_endocrine system' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000307 obsolete_bronchial epithelium 'obsolete_bronchial epithelium' SubClassOf 'obsolete class' 'obsolete_bronchial epithelium' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000308 bronchoalveolar adenocarcinoma 'bronchoalveolar adenocarcinoma' SubClassOf 'lung carcinoma' 'bronchoalveolar adenocarcinoma' SubClassOf 'has_disease_location' some 'lung' 'bronchoalveolar adenocarcinoma' SubClassOf 'lung adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0001639 cancer cell line 'cancer cell line' EquivalentTo 'cultured cell' and ('bearer_of' some 'cancer') http://www.ebi.ac.uk/efo/EFO_0000309 Burkitts lymphoma 'Burkitts lymphoma' SubClassOf 'neoplasm of mature B-cells' 'Burkitts lymphoma' SubClassOf 'lymphoma' 'Burkitts lymphoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017343 'Burkitts lymphoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017595 'Burkitts lymphoma' SubClassOf 'neoplasm of mature B-cells' http://purl.obolibrary.org/obo/UBERON_0001091 tooth 'tooth' SubClassOf 'part_of' some 'mouth' http://www.orpha.net/ORDO/Orphanet_94056 Humero-ulnar synostosis 'Humero-ulnar synostosis' SubClassOf 'Joint formation defects' 'Humero-ulnar synostosis' SubClassOf 'Joint formation defects' http://www.orpha.net/ORDO/Orphanet_1187 Lethal ataxia with deafness and optic atrophy 'Lethal ataxia with deafness and optic atrophy' SubClassOf 'X-linked cerebellar ataxia' 'Lethal ataxia with deafness and optic atrophy' SubClassOf 'Disorder of purine metabolism' 'Lethal ataxia with deafness and optic atrophy' SubClassOf 'X-linked syndromic intellectual disability' 'Lethal ataxia with deafness and optic atrophy' SubClassOf 'Syndromic genetic deafness' 'Lethal ataxia with deafness and optic atrophy' SubClassOf 'Developmental anomaly of metabolic origin' 'Lethal ataxia with deafness and optic atrophy' SubClassOf 'Disorder of purine metabolism' 'Lethal ataxia with deafness and optic atrophy' SubClassOf 'X-linked cerebellar ataxia' 'Lethal ataxia with deafness and optic atrophy' SubClassOf 'X-linked syndromic intellectual disability' 'Lethal ataxia with deafness and optic atrophy' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_1188 Ataxia-deafness-intellectual disability syndrome 'Ataxia-deafness-intellectual disability syndrome' SubClassOf 'Syndromic genetic deafness' 'Ataxia-deafness-intellectual disability syndrome' SubClassOf 'X-linked cerebellar ataxia' 'Ataxia-deafness-intellectual disability syndrome' SubClassOf 'Syndromic genetic deafness' 'Ataxia-deafness-intellectual disability syndrome' SubClassOf 'X-linked cerebellar ataxia' http://www.orpha.net/ORDO/Orphanet_1185 Spinocerebellar ataxia - dysmorphism 'Spinocerebellar ataxia - dysmorphism' SubClassOf 'hereditary ataxia' http://www.orpha.net/ORDO/Orphanet_1186 Infantile onset spinocerebellar ataxia 'Infantile onset spinocerebellar ataxia' SubClassOf 'Mitochondrial DNA depletion syndrome, hepatocerebral form' 'Infantile onset spinocerebellar ataxia' SubClassOf 'Autosomal recessive degenerative and progressive cerebellar ataxia' 'Infantile onset spinocerebellar ataxia' SubClassOf 'Mitochondrial DNA depletion syndrome, hepatocerebral form' 'Infantile onset spinocerebellar ataxia' SubClassOf 'Metabolic disease with dementia' 'Infantile onset spinocerebellar ataxia' SubClassOf 'Autosomal recessive degenerative and progressive cerebellar ataxia' http://www.orpha.net/ORDO/Orphanet_1182 Spastic ataxia with congenital miosis 'Spastic ataxia with congenital miosis' SubClassOf 'Autosomal dominant spastic ataxia' 'Spastic ataxia with congenital miosis' SubClassOf 'Autosomal dominant spastic ataxia' http://www.ebi.ac.uk/efo/EFO_1000301 Inclusion Body Fibromatosis 'Inclusion Body Fibromatosis' SubClassOf 'fibromatosis' 'Inclusion Body Fibromatosis' SubClassOf 'fibromatosis' http://www.ebi.ac.uk/efo/EFO_0000330 childhood acute myeloid leukemia 'childhood acute myeloid leukemia' SubClassOf 'acute myeloid leukemia' 'childhood acute myeloid leukemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0011118 'childhood acute myeloid leukemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004355 http://www.ebi.ac.uk/efo/EFO_1000302 Infiltrating Bladder Lymphoepithelioma-Like Carcinoma 'Infiltrating Bladder Lymphoepithelioma-Like Carcinoma' SubClassOf 'bladder carcinoma' 'Infiltrating Bladder Lymphoepithelioma-Like Carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003890 'Infiltrating Bladder Lymphoepithelioma-Like Carcinoma' SubClassOf 'bladder carcinoma' 'Infiltrating Bladder Lymphoepithelioma-Like Carcinoma' SubClassOf 'has_disease_location' some ('urinary bladder' or ('part_of' some 'urinary bladder')) http://www.ebi.ac.uk/efo/EFO_0001663 prostate carcinoma 'prostate carcinoma' SubClassOf 'urogenital neoplasm' 'prostate carcinoma' SubClassOf 'carcinoma' 'prostate carcinoma' SubClassOf 'prostate disease' 'prostate carcinoma' SubClassOf 'has_disease_location' some 'prostate gland' 'prostate carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0008315 'prostate carcinoma' SubClassOf 'carcinoma' http://www.ebi.ac.uk/efo/EFO_0000331 chondroblastoma 'chondroblastoma' SubClassOf 'bone neoplasm' 'chondroblastoma' SubClassOf 'bone disease' 'chondroblastoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024470 'chondroblastoma' SubClassOf 'has_disease_location' some 'bone' 'chondroblastoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000631 http://www.ebi.ac.uk/efo/EFO_0000332 chondromyxoid fibroma 'chondromyxoid fibroma' SubClassOf 'bone neoplasm' 'chondromyxoid fibroma' SubClassOf 'bone disease' 'chondromyxoid fibroma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024470 'chondromyxoid fibroma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000631 'chondromyxoid fibroma' SubClassOf 'has_disease_location' some 'bone' http://www.ebi.ac.uk/efo/EFO_1000300 Ileal Neuroendocrine Tumor G1 'Ileal Neuroendocrine Tumor G1' SubClassOf 'carcinoid tumor' 'Ileal Neuroendocrine Tumor G1' SubClassOf 'colonic neoplasm' 'Ileal Neuroendocrine Tumor G1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015065 'Ileal Neuroendocrine Tumor G1' SubClassOf 'has_disease_location' some ('ileum' or ('part_of' some 'ileum')) 'Ileal Neuroendocrine Tumor G1' SubClassOf 'carcinoid tumor' 'Ileal Neuroendocrine Tumor G1' SubClassOf 'colonic neoplasm' 'Ileal Neuroendocrine Tumor G1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000540 'Ileal Neuroendocrine Tumor G1' SubClassOf 'Colon Neuroendocrine Tumor G1' http://www.ebi.ac.uk/efo/EFO_0000333 chondrosarcoma 'chondrosarcoma' SubClassOf 'bone disease' 'chondrosarcoma' SubClassOf 'sarcoma' 'chondrosarcoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002176 'chondrosarcoma' SubClassOf 'sarcoma' 'chondrosarcoma' SubClassOf 'has_disease_location' some 'bone' http://www.ebi.ac.uk/efo/EFO_0000334 obsolete_chordoma 'obsolete_chordoma' SubClassOf 'obsolete class' 'obsolete_chordoma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001664 obsolete_foreskin 'obsolete_foreskin' SubClassOf 'obsolete class' 'obsolete_foreskin' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000335 chromophobe renal cell carcinoma 'chromophobe renal cell carcinoma' SubClassOf 'renal cell carcinoma' 'chromophobe renal cell carcinoma' SubClassOf 'has_disease_location' some 'kidney' 'chromophobe renal cell carcinoma' SubClassOf 'renal cell adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0001667 CEM/C1 'CEM/C1' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lymphatic part of lymphoid system' and ('part_of' some 'Homo sapiens')))) 'CEM/C1' SubClassOf 'bearer_of' some 'T-cell acute lymphoblastic leukemia' http://www.ebi.ac.uk/efo/EFO_0001666 aortic aneurysm 'aortic aneurysm' SubClassOf 'aortic disease' 'aortic aneurysm' SubClassOf 'has_disease_location' only 'aorta' 'aortic aneurysm' SubClassOf 'aortic disease' http://purl.obolibrary.org/obo/CHEBI_5855 ibuprofen 'ibuprofen' SubClassOf 'chemical entity' 'ibuprofen' SubClassOf 'chemical entity' http://www.ebi.ac.uk/efo/EFO_0000337 chronic gastritis 'chronic gastritis' SubClassOf 'gastritis' 'chronic gastritis' SubClassOf 'has_disease_location' only 'stomach' 'chronic gastritis' SubClassOf 'gastritis' 'chronic gastritis' SubClassOf 'has modifier' some 'chronic' http://www.ebi.ac.uk/efo/EFO_1000309 Juvenile Myelomonocytic Leukemia 'Juvenile Myelomonocytic Leukemia' SubClassOf 'myeloid neoplasm' 'Juvenile Myelomonocytic Leukemia' SubClassOf 'leukemia' 'Juvenile Myelomonocytic Leukemia' SubClassOf 'has_disease_location' some 'myeloid cell' 'Juvenile Myelomonocytic Leukemia' SubClassOf 'leukemia' 'Juvenile Myelomonocytic Leukemia' SubClassOf 'chronic myelomonocytic leukemia' http://www.ebi.ac.uk/efo/EFO_0000338 obsolete_chronic granulomatous disease 'obsolete_chronic granulomatous disease' SubClassOf 'obsolete class' 'obsolete_chronic granulomatous disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001668 human papilloma virus infection 'human papilloma virus infection' SubClassOf 'viral disease' 'human papilloma virus infection' SubClassOf 'viral disease' http://www.ebi.ac.uk/efo/EFO_0000339 chronic myelogenous leukemia 'chronic myelogenous leukemia' SubClassOf 'chronic myeloproliferative disorder' 'chronic myelogenous leukemia' SubClassOf 'leukemia' 'chronic myelogenous leukemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004643 'chronic myelogenous leukemia' SubClassOf 'has modifier' some 'chronic' 'chronic myelogenous leukemia' SubClassOf 'has_disease_location' some 'myeloid cell' http://www.ebi.ac.uk/efo/EFO_1000307 Invasive Breast Carcinoma 'Invasive Breast Carcinoma' SubClassOf 'breast carcinoma' 'Invasive Breast Carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0040677 'Invasive Breast Carcinoma' SubClassOf 'breast carcinoma' 'Invasive Breast Carcinoma' SubClassOf 'has_disease_location' some ('breast' or ('part_of' some 'breast')) http://purl.obolibrary.org/obo/UBERON_0002350 heart conduction system 'heart conduction system' SubClassOf 'part_of' some 'heart' http://www.ebi.ac.uk/efo/EFO_1000308 Jejunal Neuroendocrine Tumor G1 'Jejunal Neuroendocrine Tumor G1' SubClassOf 'carcinoid tumor' 'Jejunal Neuroendocrine Tumor G1' SubClassOf 'colonic neoplasm' 'Jejunal Neuroendocrine Tumor G1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000540 'Jejunal Neuroendocrine Tumor G1' SubClassOf 'carcinoid tumor' 'Jejunal Neuroendocrine Tumor G1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015064 'Jejunal Neuroendocrine Tumor G1' SubClassOf 'colonic neoplasm' 'Jejunal Neuroendocrine Tumor G1' SubClassOf 'has_disease_location' some ('jejunum' or ('part_of' some 'jejunum')) 'Jejunal Neuroendocrine Tumor G1' SubClassOf 'Colon Neuroendocrine Tumor G1' http://www.ebi.ac.uk/efo/EFO_1000305 Intimal Sarcoma 'Intimal Sarcoma' SubClassOf 'sarcoma' 'Intimal Sarcoma' SubClassOf 'soft tissue sarcoma' 'Intimal Sarcoma' SubClassOf 'sarcoma' 'Intimal Sarcoma' SubClassOf 'has_disease_location' some ('blood vessel' or ('part_of' some 'blood vessel')) 'Intimal Sarcoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002927 http://www.ebi.ac.uk/efo/EFO_1000306 Intraductal Breast Papilloma 'Intraductal Breast Papilloma' SubClassOf 'breast neoplasm' 'Intraductal Breast Papilloma' SubClassOf 'has_disease_location' some ('breast' or ('part_of' some 'breast')) 'Intraductal Breast Papilloma' SubClassOf 'breast neoplasm' http://www.ebi.ac.uk/efo/EFO_1000303 Infiltrating Bladder Urothelial Carcinoma Sarcomatoid Variant 'Infiltrating Bladder Urothelial Carcinoma Sarcomatoid Variant' SubClassOf 'bladder carcinoma' 'Infiltrating Bladder Urothelial Carcinoma Sarcomatoid Variant' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002837 'Infiltrating Bladder Urothelial Carcinoma Sarcomatoid Variant' SubClassOf 'bladder carcinoma' 'Infiltrating Bladder Urothelial Carcinoma Sarcomatoid Variant' SubClassOf 'has_disease_location' some ('urinary bladder' or ('part_of' some 'urinary bladder')) 'Infiltrating Bladder Urothelial Carcinoma Sarcomatoid Variant' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003890 http://www.ebi.ac.uk/efo/EFO_1000304 Intestinal Type Adenocarcinoma 'Intestinal Type Adenocarcinoma' SubClassOf 'adenocarcinoma' 'Intestinal Type Adenocarcinoma' SubClassOf 'has_disease_location' some ('intestinal epithelium' or ('part_of' some 'intestinal epithelium')) 'Intestinal Type Adenocarcinoma' SubClassOf 'adenocarcinoma' http://purl.obolibrary.org/obo/UBERON_0002355 pelvis 'pelvis' SubClassOf 'part_of' some 'trunk' http://purl.obolibrary.org/obo/UBERON_0002356 perineum 'perineum' SubClassOf 'part_of' some 'anal region' 'perineum' SubClassOf 'part_of' some 'trunk' http://www.orpha.net/ORDO/Orphanet_1180 Ataxia - hypogonadism - choroidal dystrophy 'Ataxia - hypogonadism - choroidal dystrophy' SubClassOf 'Rare disorder with hypogonadotropic hypogonadism' 'Ataxia - hypogonadism - choroidal dystrophy' SubClassOf 'Rare disorder with hypogonadotropic hypogonadism' 'Ataxia - hypogonadism - choroidal dystrophy' SubClassOf 'hereditary ataxia' http://www.orpha.net/ORDO/Orphanet_108959 Non-syndromic esophageal malformation 'Non-syndromic esophageal malformation' SubClassOf 'Esophageal malformation' 'Non-syndromic esophageal malformation' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021128 'Non-syndromic esophageal malformation' SubClassOf 'Esophageal malformation' 'Non-syndromic esophageal malformation' EquivalentTo 'Esophageal malformation' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021128) http://purl.obolibrary.org/obo/UBERON_0003688 omentum 'omentum' SubClassOf 'part_of' some 'peritoneum' http://purl.obolibrary.org/obo/UBERON_0001021 nerve 'nerve' SubClassOf 'nervous system' 'nerve' SubClassOf 'nervous system' 'nerve' SubClassOf 'part_of' some 'nervous system' http://purl.obolibrary.org/obo/UBERON_0002352 atrioventricular node 'atrioventricular node' SubClassOf 'part_of' some 'cardiac ventricle' 'atrioventricular node' SubClassOf 'part_of' some 'cardiac atrium' 'atrioventricular node' SubClassOf 'part_of' some 'myocardium' http://purl.obolibrary.org/obo/UBERON_0003684 abdominal cavity 'abdominal cavity' SubClassOf 'has part' some 'abdomen' http://www.orpha.net/ORDO/Orphanet_1198 Colonic atresia 'Colonic atresia' SubClassOf 'Non-syndromic intestinal malformation' 'Colonic atresia' SubClassOf 'Non-syndromic intestinal malformation' http://www.orpha.net/ORDO/Orphanet_1194 Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency 'Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency' SubClassOf 'Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes' 'Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency' SubClassOf 'Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes' 'Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000066 http://www.orpha.net/ORDO/Orphanet_1195 Congenital atransferrinemia 'Congenital atransferrinemia' SubClassOf 'Constitutional anemia due to iron metabolism disorder' 'Congenital atransferrinemia' SubClassOf 'Disorder of iron metabolism and transport' 'Congenital atransferrinemia' SubClassOf 'Constitutional anemia due to iron metabolism disorder' 'Congenital atransferrinemia' SubClassOf 'Disorder of iron metabolism and transport' 'Congenital atransferrinemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004689 http://www.orpha.net/ORDO/Orphanet_1192 Atherosclerosis - deafness - diabetes - epilepsy - nephropathy 'Atherosclerosis - deafness - diabetes - epilepsy - nephropathy' SubClassOf 'Epilepsy syndrome' 'Atherosclerosis - deafness - diabetes - epilepsy - nephropathy' SubClassOf 'Syndromic renal or urinary tract malformation' 'Atherosclerosis - deafness - diabetes - epilepsy - nephropathy' SubClassOf 'Syndromic genetic deafness' 'Atherosclerosis - deafness - diabetes - epilepsy - nephropathy' SubClassOf 'Epilepsy syndrome' 'Atherosclerosis - deafness - diabetes - epilepsy - nephropathy' SubClassOf 'Syndromic renal or urinary tract malformation' 'Atherosclerosis - deafness - diabetes - epilepsy - nephropathy' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_1193 Atkin-Flaitz syndrome 'Atkin-Flaitz syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Atkin-Flaitz syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Atkin-Flaitz syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Atkin-Flaitz syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Atkin-Flaitz syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://www.ebi.ac.uk/efo/EFO_1000312 Kidney Angiomyolipoma 'Kidney Angiomyolipoma' SubClassOf 'kidney neoplasm' 'Kidney Angiomyolipoma' SubClassOf 'has_disease_location' some ('kidney' or ('part_of' some 'kidney')) 'Kidney Angiomyolipoma' SubClassOf 'kidney neoplasm' http://www.ebi.ac.uk/efo/EFO_1000313 Kidney Cyst 'Kidney Cyst' SubClassOf 'kidney neoplasm' 'Kidney Cyst' SubClassOf 'has_disease_location' some ('kidney' or ('part_of' some 'kidney')) 'Kidney Cyst' SubClassOf 'kidney neoplasm' http://www.ebi.ac.uk/efo/EFO_0001652 obsolete_primordium 'obsolete_primordium' SubClassOf 'obsolete class' 'obsolete_primordium' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000310 Juvenile Polyp 'Juvenile Polyp' SubClassOf 'polyp' 'Juvenile Polyp' SubClassOf 'polyp' 'Juvenile Polyp' SubClassOf 'Gastrointestinal Hamartoma' 'Juvenile Polyp' SubClassOf 'has_disease_location' some ('stomach' or ('part_of' some 'stomach')) 'Juvenile Polyp' SubClassOf 'has_disease_location' some ('intestine' or ('part_of' some 'intestine')) http://www.ebi.ac.uk/efo/EFO_0000321 obsolete_cell factor 'obsolete_cell factor' SubClassOf 'obsolete class' 'obsolete_cell factor' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000311 Juvenile Xanthogranuloma 'Juvenile Xanthogranuloma' SubClassOf 'neoplasm' 'Juvenile Xanthogranuloma' SubClassOf 'neoplasm' 'Juvenile Xanthogranuloma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015531 http://www.ebi.ac.uk/efo/EFO_0000322 obsolete_cell line 'obsolete_cell line' SubClassOf 'obsolete class' 'obsolete_cell line' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000324 cell type 'cultured cell' DisjointWith 'cell type' http://purl.obolibrary.org/obo/UBERON_0003690 sacrum 'sacrum' SubClassOf http://purl.obolibrary.org/obo/UBERON_0004247 'sacrum' SubClassOf http://purl.obolibrary.org/obo/UBERON_0008001 'sacrum' SubClassOf 'part_of' some 'postcranial axial skeleton' 'sacrum' SubClassOf http://purl.obolibrary.org/obo/UBERON_0003828 'sacrum' SubClassOf 'part_of' some 'pelvis' http://www.ebi.ac.uk/efo/EFO_0000326 central nervous system cancer 'central nervous system cancer' SubClassOf 'cancer' 'central nervous system cancer' SubClassOf 'central nervous system disease' 'central nervous system cancer' SubClassOf 'nervous system cancer' 'central nervous system cancer' SubClassOf 'Central Nervous System Neoplasm' 'central nervous system cancer' EquivalentTo 'cancer' and ('has_disease_location' some ('central nervous system' or ('part_of' some 'central nervous system'))) http://www.ebi.ac.uk/efo/EFO_0000327 obsolete_cerebellum 'obsolete_cerebellum' SubClassOf 'obsolete class' 'obsolete_cerebellum' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/UBERON_0002360 meninx 'meninx' SubClassOf 'part_of' some 'central nervous system' http://www.ebi.ac.uk/efo/EFO_0000328 obsolete_cerebral cortex 'obsolete_cerebral cortex' SubClassOf 'obsolete class' 'obsolete_cerebral cortex' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000318 Langerhans Cell Histiocytosis 'Langerhans Cell Histiocytosis' SubClassOf 'neoplasm' 'Langerhans Cell Histiocytosis' SubClassOf 'has_disease_location' some 'Langerhans cell' http://purl.obolibrary.org/obo/MONDO_0015531 DisjointWith 'Langerhans Cell Histiocytosis' 'Langerhans Cell Histiocytosis' SubClassOf 'lymphatic system disease' 'Langerhans Cell Histiocytosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015938 'Langerhans Cell Histiocytosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004805 'Langerhans Cell Histiocytosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020082 'Langerhans Cell Histiocytosis' SubClassOf 'neoplasm' http://www.ebi.ac.uk/efo/EFO_0000329 obsolete_cerebrospinal fluid 'obsolete_cerebrospinal fluid' SubClassOf 'obsolete class' 'obsolete_cerebrospinal fluid' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000319 Laryngeal Adenoid Cystic Carcinoma 'Laryngeal Adenoid Cystic Carcinoma' SubClassOf 'adenoid cystic carcinoma' 'Laryngeal Adenoid Cystic Carcinoma' SubClassOf 'laryngeal neoplasm' 'Laryngeal Adenoid Cystic Carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002358 'Laryngeal Adenoid Cystic Carcinoma' SubClassOf 'adenoid cystic carcinoma' 'Laryngeal Adenoid Cystic Carcinoma' SubClassOf 'laryngeal neoplasm' 'Laryngeal Adenoid Cystic Carcinoma' SubClassOf 'has_disease_location' some ('larynx' or ('part_of' some 'larynx')) http://purl.obolibrary.org/obo/CHEBI_57277 3-(3-hydroxyphenyl)propanoate '3-(3-hydroxyphenyl)propanoate' SubClassOf 'chemical entity' '3-(3-hydroxyphenyl)propanoate' SubClassOf 'chemical entity' http://www.ebi.ac.uk/efo/EFO_1000316 Krukenberg Tumor 'Krukenberg Tumor' SubClassOf 'adenocarcinoma' 'Krukenberg Tumor' SubClassOf 'signet ring cell carcinoma' 'Krukenberg Tumor' SubClassOf 'ovarian neoplasm' 'Krukenberg Tumor' SubClassOf 'adenocarcinoma' 'Krukenberg Tumor' SubClassOf 'has_disease_location' some ('female gonad' or ('part_of' some 'female gonad')) 'Krukenberg Tumor' SubClassOf http://purl.obolibrary.org/obo/RO_0004022 some 'signet ring cell carcinoma' 'Krukenberg Tumor' SubClassOf 'signet ring cell carcinoma' 'Krukenberg Tumor' SubClassOf 'ovarian adenocarcinoma' 'Krukenberg Tumor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024879 'Krukenberg Tumor' SubClassOf 'ovarian neoplasm' http://www.ebi.ac.uk/efo/EFO_1000317 Lacrimal Gland Adenoid Cystic Carcinoma 'Lacrimal Gland Adenoid Cystic Carcinoma' SubClassOf 'head and neck neoplasia' 'Lacrimal Gland Adenoid Cystic Carcinoma' SubClassOf 'adenoid cystic carcinoma' 'Lacrimal Gland Adenoid Cystic Carcinoma' SubClassOf 'eye disease' 'Lacrimal Gland Adenoid Cystic Carcinoma' SubClassOf 'adenoid cystic carcinoma' 'Lacrimal Gland Adenoid Cystic Carcinoma' SubClassOf 'has_disease_location' some ('lacrimal gland' or ('part_of' some 'lacrimal gland')) 'Lacrimal Gland Adenoid Cystic Carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002475 http://www.ebi.ac.uk/efo/EFO_1000314 Kidney Medullary Carcinoma 'Kidney Medullary Carcinoma' SubClassOf 'renal carcinoma' 'Kidney Medullary Carcinoma' SubClassOf 'renal carcinoma' 'Kidney Medullary Carcinoma' SubClassOf 'renal cell carcinoma' 'Kidney Medullary Carcinoma' SubClassOf 'has_disease_location' some ('kidney' or ('part_of' some 'kidney')) http://www.ebi.ac.uk/efo/EFO_1000315 Kidney Oncocytoma 'Kidney Oncocytoma' SubClassOf 'kidney neoplasm' 'Kidney Oncocytoma' SubClassOf 'has_disease_location' some ('kidney' or ('part_of' some 'kidney')) 'Kidney Oncocytoma' SubClassOf 'kidney neoplasm' http://www.orpha.net/ORDO/Orphanet_1190 Atelosteogenesis type I 'Atelosteogenesis type I' SubClassOf 'Filamin-related bone disorder' 'Atelosteogenesis type I' SubClassOf 'Primary bone dysplasia with multiple joint dislocations' 'Atelosteogenesis type I' SubClassOf 'Pierre Robin syndrome associated with bone disease' 'Atelosteogenesis type I' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000389 'Atelosteogenesis type I' SubClassOf 'Filamin-related bone disorder' 'Atelosteogenesis type I' SubClassOf 'Primary bone dysplasia with multiple joint dislocations' 'Atelosteogenesis type I' SubClassOf 'Pierre Robin syndrome associated with bone disease' http://purl.obolibrary.org/obo/UBERON_0002367 prostate gland 'prostate gland' SubClassOf 'gland' 'prostate gland' SubClassOf 'male accessory sex gland' 'prostate gland' SubClassOf 'develops_from' some 'digestive system' 'prostate gland' SubClassOf 'develops_from' some 'anal region' 'prostate gland' SubClassOf 'part_of' some 'male reproductive system' 'prostate gland' SubClassOf 'develops_from' some 'genitourinary system' http://purl.obolibrary.org/obo/UBERON_0003697 abdominal wall 'abdominal wall' SubClassOf 'part_of' some 'abdomen' http://purl.obolibrary.org/obo/UBERON_0001037 hair 'hair' SubClassOf 'part_of' some 'integumental system' http://purl.obolibrary.org/obo/UBERON_0001038 chordotonal organ 'chordotonal organ' SubClassOf 'part_of' some 'sensory system' http://purl.obolibrary.org/obo/UBERON_0001033 gustatory system 'gustatory system' DisjointWith 'immune system' 'gustatory system' DisjointWith 'biliary system' 'circulatory system' DisjointWith 'gustatory system' 'nervous system' DisjointWith 'gustatory system' 'gustatory system' DisjointWith 'integumental system' 'renal system' DisjointWith 'gustatory system' 'digestive system' DisjointWith 'gustatory system' 'gustatory system' DisjointWith 'skeletal system' 'respiratory system' DisjointWith 'gustatory system' 'gustatory system' SubClassOf 'part_of' some 'craniofacial tissue' 'gustatory system' DisjointWith 'hepatobiliary system' 'reproductive system' DisjointWith 'gustatory system' 'gustatory system' DisjointWith http://purl.obolibrary.org/obo/UBERON_0002330 'gustatory system' DisjointWith http://purl.obolibrary.org/obo/UBERON_0004456 'gustatory system' DisjointWith 'hematopoietic system' 'endocrine system' DisjointWith 'gustatory system' 'gustatory system' DisjointWith http://purl.obolibrary.org/obo/UBERON_0002204 http://purl.obolibrary.org/obo/CLO_0013199 GM17276 'GM17276' SubClassOf 'has_quality' some 'male' 'GM17276' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17276' SubClassOf 'cultured cell' http://purl.obolibrary.org/obo/CLO_0013197 GM17273 'GM17273' SubClassOf 'cultured cell' 'GM17273' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17273' SubClassOf 'has_quality' some 'female' http://purl.obolibrary.org/obo/CLO_0013193 GM17274 'GM17274' SubClassOf 'cultured cell' 'GM17274' SubClassOf 'has_quality' some 'female' 'GM17274' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0000350 clear cell sarcoma of the kidney 'clear cell sarcoma of the kidney' SubClassOf 'sarcoma' 'clear cell sarcoma of the kidney' SubClassOf 'kidney neoplasm' 'clear cell sarcoma of the kidney' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002930 'clear cell sarcoma of the kidney' SubClassOf 'has_disease_location' some 'kidney' 'clear cell sarcoma of the kidney' SubClassOf 'Genetic renal tumor' 'clear cell sarcoma of the kidney' SubClassOf 'clear cell sarcoma' http://www.ebi.ac.uk/efo/EFO_0000351 obsolete_clinical factor 'obsolete_clinical factor' SubClassOf 'obsolete class' 'obsolete_clinical factor' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000323 Liver Diffuse Large B-Cell Lymphoma 'Liver Diffuse Large B-Cell Lymphoma' SubClassOf 'diffuse large B-cell lymphoma' 'Liver Diffuse Large B-Cell Lymphoma' SubClassOf 'hepatocellular carcinoma' 'Liver Diffuse Large B-Cell Lymphoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000621 'Liver Diffuse Large B-Cell Lymphoma' SubClassOf 'has_disease_location' some 'lymphocyte of B lineage' 'Liver Diffuse Large B-Cell Lymphoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004695 'Liver Diffuse Large B-Cell Lymphoma' SubClassOf 'diffuse large B-cell lymphoma' 'Liver Diffuse Large B-Cell Lymphoma' SubClassOf 'has_disease_location' some ('liver' or ('part_of' some 'liver')) 'Liver Diffuse Large B-Cell Lymphoma' SubClassOf 'hepatocellular carcinoma' http://www.ebi.ac.uk/efo/EFO_1000324 Liver Inflammatory Myofibroblastic Tumor 'Liver Inflammatory Myofibroblastic Tumor' SubClassOf 'has_disease_location' some ('liver' or ('part_of' some 'liver')) http://www.ebi.ac.uk/efo/EFO_0000353 obsolete_clinical history age 'obsolete_clinical history age' SubClassOf 'obsolete class' 'obsolete_clinical history age' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000321 Leydig Cell Tumor 'Leydig Cell Tumor' SubClassOf 'neoplasm' 'Leydig Cell Tumor' SubClassOf 'sex cord-stromal tumor' 'Leydig Cell Tumor' SubClassOf 'has_disease_location' some 'Leydig cell' http://www.ebi.ac.uk/efo/EFO_0000354 obsolete_clinical information 'obsolete_clinical information' SubClassOf 'obsolete class' 'obsolete_clinical information' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000322 Liver Cavernous Hemangioma 'Liver Cavernous Hemangioma' SubClassOf 'has_disease_location' some ('liver' or ('part_of' some 'liver')) http://www.orpha.net/ORDO/Orphanet_69076 Renal glucosuria 'Renal glucosuria' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'Renal glucosuria' SubClassOf 'Glucose transport disorder' 'Renal glucosuria' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'Renal glucosuria' SubClassOf 'renal tubular transport disease' 'Renal glucosuria' SubClassOf 'Glucose transport disorder' http://purl.obolibrary.org/obo/OBI_0000552 reverse transcription PCR 'reverse transcription PCR' SubClassOf 'part_of' some 'nucleic acid library construction protocol' http://www.ebi.ac.uk/efo/EFO_0000356 obsolete_clypeo-labral primordium 'obsolete_clypeo-labral primordium' SubClassOf 'obsolete class' 'obsolete_clypeo-labral primordium' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000320 Laryngeal Small Cell Carcinoma 'Laryngeal Small Cell Carcinoma' SubClassOf 'laryngeal neoplasm' 'Laryngeal Small Cell Carcinoma' SubClassOf 'carcinoma' 'Laryngeal Small Cell Carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015070 'Laryngeal Small Cell Carcinoma' SubClassOf 'laryngeal neoplasm' 'Laryngeal Small Cell Carcinoma' SubClassOf 'carcinoma' 'Laryngeal Small Cell Carcinoma' SubClassOf 'small cell carcinoma' 'Laryngeal Small Cell Carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002038 'Laryngeal Small Cell Carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002358 'Laryngeal Small Cell Carcinoma' SubClassOf 'has_disease_location' some ('larynx' or ('part_of' some 'larynx')) http://www.ebi.ac.uk/efo/EFO_0000357 obsolete_cochlea structure 'obsolete_cochlea structure' SubClassOf 'obsolete class' 'obsolete_cochlea structure' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000359 obsolete_cockayne syndrome 'obsolete_cockayne syndrome' SubClassOf 'obsolete class' 'obsolete_cockayne syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/UBERON_0002370 thymus 'thymus' SubClassOf 'part_of' some 'endocrine system' 'thymus' SubClassOf 'develops_from' some 'blood island' 'thymus' SubClassOf http://purl.obolibrary.org/obo/UBERON_0005058 'thymus' SubClassOf 'develops_from' some 'thymus primordium' http://purl.obolibrary.org/obo/UBERON_0001040 yolk sac 'yolk sac' SubClassOf 'animal component' 'yolk sac' SubClassOf 'develops_from' some 'endoderm' 'yolk sac' SubClassOf http://purl.obolibrary.org/obo/UBERON_0007499 'yolk sac' SubClassOf 'extraembryonic tissue' 'yolk sac' SubClassOf 'develops_from' some 'mesoderm' http://purl.obolibrary.org/obo/UBERON_0002371 bone marrow 'bone marrow' SubClassOf 'part_of' some 'skeletal system' 'bone marrow' SubClassOf 'develops_from' some 'blood island' http://www.ebi.ac.uk/efo/EFO_1000329 Low Grade Fibromyxoid Sarcoma with Giant Collagen Rosettes 'Low Grade Fibromyxoid Sarcoma with Giant Collagen Rosettes' SubClassOf 'fibrosarcoma' 'Low Grade Fibromyxoid Sarcoma with Giant Collagen Rosettes' SubClassOf 'Low Grade Fibromyxoid Sarcoma' 'Low Grade Fibromyxoid Sarcoma with Giant Collagen Rosettes' SubClassOf 'fibrosarcoma' http://purl.obolibrary.org/obo/UBERON_0002372 tonsil 'tonsil' SubClassOf 'animal component' 'tonsil' SubClassOf http://purl.obolibrary.org/obo/UBERON_0001962 'tonsil' SubClassOf 'part_of' some 'chordate pharynx' http://www.ebi.ac.uk/efo/EFO_1000327 Low Grade Central Osteosarcoma 'Low Grade Central Osteosarcoma' SubClassOf 'osteosarcoma' 'Low Grade Central Osteosarcoma' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0024491 'Low Grade Central Osteosarcoma' SubClassOf 'osteosarcoma' 'Low Grade Central Osteosarcoma' SubClassOf 'has_disease_location' some ('bone' or ('part_of' some 'bone')) 'Low Grade Central Osteosarcoma' EquivalentTo 'osteosarcoma' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0024491) http://www.ebi.ac.uk/efo/EFO_1000328 Low Grade Fibromyxoid Sarcoma 'Low Grade Fibromyxoid Sarcoma' SubClassOf 'fibrosarcoma' 'Low Grade Fibromyxoid Sarcoma' SubClassOf 'fibrosarcoma' 'Low Grade Fibromyxoid Sarcoma' EquivalentTo 'fibrosarcoma' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0024491) 'Low Grade Fibromyxoid Sarcoma' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0024491 http://www.ebi.ac.uk/efo/EFO_1000325 Liver Neuroendocrine Tumor 'Liver Neuroendocrine Tumor' SubClassOf 'has_disease_location' some ('liver' or ('part_of' some 'liver')) 'Liver Neuroendocrine Tumor' SubClassOf 'endocrine neoplasm' http://www.ebi.ac.uk/efo/EFO_1000326 Lobular Breast Carcinoma In Situ 'Lobular Breast Carcinoma In Situ' SubClassOf 'breast adenocarcinoma' 'Lobular Breast Carcinoma In Situ' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003218 'Lobular Breast Carcinoma In Situ' SubClassOf 'breast adenocarcinoma' 'Lobular Breast Carcinoma In Situ' SubClassOf 'has_disease_location' some ('breast' or ('part_of' some 'breast')) 'Lobular Breast Carcinoma In Situ' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002486 http://purl.obolibrary.org/obo/UBERON_0001042 chordate pharynx 'chordate pharynx' SubClassOf 'develops_from' some 'endoderm' 'chordate pharynx' SubClassOf 'develops_from' some 'digestive system' 'chordate pharynx' SubClassOf 'part_of' some 'digestive system' 'chordate pharynx' SubClassOf 'develops_from' some 'respiratory system' 'chordate pharynx' SubClassOf 'develops_from' some 'primordium' 'chordate pharynx' SubClassOf 'part_of' some 'respiratory system' http://purl.obolibrary.org/obo/UBERON_0002373 palatine tonsil 'palatine tonsil' SubClassOf 'develops_from' some 'pharyngeal pouch 2' 'palatine tonsil' SubClassOf 'develops_from' some 'pharyngeal arch' http://purl.obolibrary.org/obo/UBERON_0001043 esophagus 'esophagus' SubClassOf 'develops_from' some 'endoderm' 'esophagus' SubClassOf 'develops_from' some 'digestive system' 'esophagus' SubClassOf 'part_of' some 'digestive system' http://purl.obolibrary.org/obo/UBERON_0002374 metacarpal bone 'metacarpal bone' SubClassOf http://purl.obolibrary.org/obo/UBERON_0012358 'metacarpal bone' SubClassOf http://purl.obolibrary.org/obo/UBERON_0003607 'metacarpal bone' SubClassOf http://purl.obolibrary.org/obo/UBERON_0003821 'metacarpal bone' SubClassOf 'develops_from' some 'digit' 'metacarpal bone' SubClassOf 'develops_from' some 'forelimb' 'metacarpal bone' SubClassOf 'part_of' some 'forelimb' http://purl.obolibrary.org/obo/UBERON_0001044 saliva-secreting gland 'saliva-secreting gland' SubClassOf 'gland' 'saliva-secreting gland' SubClassOf 'part_of' some 'mouth' 'saliva-secreting gland' SubClassOf 'part_of' some 'digestive system' 'saliva-secreting gland' SubClassOf http://purl.obolibrary.org/obo/UBERON_0010047 http://purl.obolibrary.org/obo/UBERON_0001045 midgut 'midgut' SubClassOf 'develops_from' some 'endoderm' 'midgut' SubClassOf 'part_of' some 'digestive system' http://purl.obolibrary.org/obo/UBERON_0002376 muscle of head 'muscle of head' SubClassOf http://purl.obolibrary.org/obo/UBERON_0010959 'muscle of head' SubClassOf 'develops_from' some 'head mesenchyme from mesoderm' 'muscle of head' SubClassOf 'part_of' some 'head' 'muscle of head' SubClassOf 'part_of' some 'musculature of body' http://www.ebi.ac.uk/efo/EFO_0001670 obsolete_mediastinal lymph node 'obsolete_mediastinal lymph node' SubClassOf 'obsolete class' 'obsolete_mediastinal lymph node' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000340 obsolete_chronic myeloid leukemia 'obsolete_chronic myeloid leukemia' SubClassOf 'obsolete class' 'obsolete_chronic myeloid leukemia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000334 Lung Lymphangioleiomyomatosis 'Lung Lymphangioleiomyomatosis' SubClassOf 'lung carcinoma' 'Lung Lymphangioleiomyomatosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020588 'Lung Lymphangioleiomyomatosis' SubClassOf 'has_disease_location' some ('lung' or ('part_of' some 'lung')) 'Lung Lymphangioleiomyomatosis' SubClassOf 'neoplasm' 'Lung Lymphangioleiomyomatosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017027 'Lung Lymphangioleiomyomatosis' SubClassOf 'Lymphangioleiomyomatosis' 'Lung Lymphangioleiomyomatosis' SubClassOf 'lung carcinoma' http://www.ebi.ac.uk/efo/EFO_0000341 chronic obstructive pulmonary disease 'chronic obstructive pulmonary disease' SubClassOf 'has_disease_location' some 'trachea' 'chronic obstructive pulmonary disease' SubClassOf 'has modifier' some 'chronic' 'chronic obstructive pulmonary disease' SubClassOf 'has_disease_location' some 'lung' 'chronic obstructive pulmonary disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002567 http://www.ebi.ac.uk/efo/EFO_1000335 Lung Papilloma 'Lung Papilloma' SubClassOf 'respiratory system neoplasm' 'Lung Papilloma' SubClassOf 'lung disease' 'Lung Papilloma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002732 'Lung Papilloma' SubClassOf 'neoplasm' 'Lung Papilloma' SubClassOf 'has_disease_location' some ('lung' or ('part_of' some 'lung')) 'Lung Papilloma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002363 http://www.ebi.ac.uk/efo/EFO_0000342 chronic pancreatitis 'chronic pancreatitis' SubClassOf 'pancreatitis' 'chronic pancreatitis' SubClassOf 'pancreatitis' 'chronic pancreatitis' SubClassOf 'has modifier' some 'chronic' 'chronic pancreatitis' SubClassOf 'has_disease_location' only 'pancreas' http://www.ebi.ac.uk/efo/EFO_1000332 Lung Giant Cell Carcinoma 'Lung Giant Cell Carcinoma' SubClassOf 'non-small cell lung carcinoma' 'Lung Giant Cell Carcinoma' SubClassOf 'non-small cell lung carcinoma' 'Lung Giant Cell Carcinoma' SubClassOf 'Lung Sarcomatoid Carcinoma' 'Lung Giant Cell Carcinoma' SubClassOf 'has_disease_location' some ('lung' or ('part_of' some 'lung')) http://www.ebi.ac.uk/efo/EFO_0000343 obsolete_cingulate cortex 'obsolete_cingulate cortex' SubClassOf 'obsolete class' 'obsolete_cingulate cortex' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000333 Lung Inflammatory Myofibroblastic Tumor 'Lung Inflammatory Myofibroblastic Tumor' SubClassOf 'lung carcinoma' 'Lung Inflammatory Myofibroblastic Tumor' SubClassOf 'has_disease_location' some ('lung' or ('part_of' some 'lung')) 'Lung Inflammatory Myofibroblastic Tumor' SubClassOf 'lung carcinoma' 'Lung Inflammatory Myofibroblastic Tumor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015798 http://www.orpha.net/ORDO/Orphanet_69088 Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema 'Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema' SubClassOf 'Ectodermal dysplasia syndrome' 'Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema' SubClassOf 'Syndromic lymphedema' 'Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema' SubClassOf 'Osteopetrosis' 'Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema' SubClassOf 'Milroy disease' 'Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema' SubClassOf http://purl.obolibrary.org/obo/MONDO_0009332 'Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018035 'Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018722 'Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema' SubClassOf 'Ectodermal dysplasia syndrome' 'Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema' SubClassOf 'Syndromic lymphedema' 'Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema' SubClassOf 'Osteopetrosis' http://www.ebi.ac.uk/efo/EFO_1000330 Low Grade Vulvar Intraepithelial Neoplasia 'Low Grade Vulvar Intraepithelial Neoplasia' SubClassOf 'vulvar intraepithelial neoplasia' 'Low Grade Vulvar Intraepithelial Neoplasia' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0024491 'Low Grade Vulvar Intraepithelial Neoplasia' EquivalentTo 'vulvar intraepithelial neoplasia' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0024491) 'Low Grade Vulvar Intraepithelial Neoplasia' SubClassOf 'has_disease_location' some ('mammalian vulva' or ('part_of' some 'mammalian vulva')) 'Low Grade Vulvar Intraepithelial Neoplasia' SubClassOf 'vulvar intraepithelial neoplasia' http://www.orpha.net/ORDO/Orphanet_69087 Naegeli-Franceschetti-Jadassohn syndrome 'Naegeli-Franceschetti-Jadassohn syndrome' SubClassOf 'Genetic hyperpigmentation of the skin' 'Naegeli-Franceschetti-Jadassohn syndrome' SubClassOf 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' 'Naegeli-Franceschetti-Jadassohn syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Naegeli-Franceschetti-Jadassohn syndrome' SubClassOf 'Genetic hyperpigmentation of the skin' 'Naegeli-Franceschetti-Jadassohn syndrome' SubClassOf 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' 'Naegeli-Franceschetti-Jadassohn syndrome' SubClassOf 'Ectodermal dysplasia syndrome' http://www.ebi.ac.uk/efo/EFO_0000345 obsolete_circular visceral muscle fibers 'obsolete_circular visceral muscle fibers' SubClassOf 'obsolete class' 'obsolete_circular visceral muscle fibers' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001675 simian immunodeficiency virus infection 'simian immunodeficiency virus infection' SubClassOf 'viral disease' 'simian immunodeficiency virus infection' SubClassOf 'Lentivirus Infections' http://www.ebi.ac.uk/efo/EFO_1000331 obsolete_lung carcioma 'obsolete_lung carcioma' SubClassOf 'obsolete class' 'obsolete_lung carcioma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000346 obsolete_classical Hodgkin's lymphoma 'obsolete_classical Hodgkin's lymphoma' SubClassOf 'obsolete class' 'obsolete_classical Hodgkin's lymphoma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_69085 Limb-mammary syndrome 'Limb-mammary syndrome' SubClassOf 'Genetic syndrome with limb reduction defects' 'Limb-mammary syndrome' SubClassOf 'EEC syndrome and related syndrome' 'Limb-mammary syndrome' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' 'Limb-mammary syndrome' SubClassOf 'Genetic syndrome with limb reduction defects' 'Limb-mammary syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015853 'Limb-mammary syndrome' SubClassOf 'EEC syndrome and related syndrome' http://www.orpha.net/ORDO/Orphanet_69084 Pure hair and nail ectodermal dysplasia 'Pure hair and nail ectodermal dysplasia' SubClassOf 'Ectodermal dysplasia syndrome' 'Pure hair and nail ectodermal dysplasia' SubClassOf 'Ectodermal dysplasia syndrome' http://www.ebi.ac.uk/efo/EFO_0000348 clear cell adenocarcinoma 'clear cell adenocarcinoma' SubClassOf 'adenocarcinoma' 'clear cell adenocarcinoma' SubClassOf 'adenocarcinoma' http://www.orpha.net/ORDO/Orphanet_69083 Ectodermal dysplasia with natal teeth, Turnpenny type 'Ectodermal dysplasia with natal teeth, Turnpenny type' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Ectodermal dysplasia with natal teeth, Turnpenny type' SubClassOf 'Ectodermal dysplasia syndrome' 'Ectodermal dysplasia with natal teeth, Turnpenny type' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Ectodermal dysplasia with natal teeth, Turnpenny type' SubClassOf 'Ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/UBERON_0002381 pectoralis major 'pectoralis major' SubClassOf http://purl.obolibrary.org/obo/UBERON_0001482 'pectoralis major' SubClassOf http://purl.obolibrary.org/obo/UBERON_0003897 http://www.ebi.ac.uk/efo/EFO_0000349 clear cell renal carcinoma 'clear cell renal carcinoma' SubClassOf 'renal cell carcinoma' 'clear cell renal carcinoma' SubClassOf 'renal cell adenocarcinoma' 'clear cell renal carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0007763 'clear cell renal carcinoma' SubClassOf 'has_disease_location' some 'kidney' 'clear cell renal carcinoma' SubClassOf 'clear cell adenocarcinoma' http://www.orpha.net/ORDO/Orphanet_69082 Odonto-tricho-ungual-digito-palmar syndrome 'Odonto-tricho-ungual-digito-palmar syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Odonto-tricho-ungual-digito-palmar syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Odonto-tricho-ungual-digito-palmar syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Odonto-tricho-ungual-digito-palmar syndrome' SubClassOf 'Ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/UBERON_0001051 hypopharynx 'hypopharynx' SubClassOf 'part_of' some 'chordate pharynx' http://purl.obolibrary.org/obo/UBERON_0001052 rectum 'rectum' SubClassOf 'part_of' some 'anal region' 'rectum' SubClassOf 'part_of' some 'large intestine' http://www.ebi.ac.uk/efo/EFO_1000338 Lung Signet Ring Cell Carcinoma 'Lung Signet Ring Cell Carcinoma' SubClassOf 'signet ring cell carcinoma' 'Lung Signet Ring Cell Carcinoma' SubClassOf 'lung adenocarcinoma' 'Lung Signet Ring Cell Carcinoma' SubClassOf 'has_disease_location' some ('lung' or ('part_of' some 'lung')) 'Lung Signet Ring Cell Carcinoma' SubClassOf 'signet ring cell carcinoma' 'Lung Signet Ring Cell Carcinoma' SubClassOf 'lung adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_1000339 Lymphangiosarcoma 'Lymphangiosarcoma' SubClassOf 'sarcoma' 'Lymphangiosarcoma' SubClassOf 'has_disease_location' some 'endothelial cell' 'Lymphangiosarcoma' SubClassOf 'carcinoma' 'Lymphangiosarcoma' SubClassOf 'sarcoma' 'Lymphangiosarcoma' SubClassOf 'has_disease_location' some ('lymphatic vessel' or ('part_of' some 'lymphatic vessel')) http://www.ebi.ac.uk/efo/EFO_1000336 Lung Sarcomatoid Carcinoma 'Lung Sarcomatoid Carcinoma' SubClassOf 'large cell lung carcinoma' 'Lung Sarcomatoid Carcinoma' SubClassOf 'large cell lung carcinoma' 'Lung Sarcomatoid Carcinoma' SubClassOf 'Sarcomatoid Carcinoma' 'Lung Sarcomatoid Carcinoma' SubClassOf 'has_disease_location' some ('lung' or ('part_of' some 'lung')) http://www.ebi.ac.uk/efo/EFO_1000337 Lung Sclerosing Hemangioma 'Lung Sclerosing Hemangioma' SubClassOf 'respiratory system neoplasm' 'Lung Sclerosing Hemangioma' SubClassOf 'hemangioma' 'Lung Sclerosing Hemangioma' SubClassOf 'lung disease' 'Lung Sclerosing Hemangioma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003194 'Lung Sclerosing Hemangioma' SubClassOf 'has_disease_location' some ('lung' or ('part_of' some 'lung')) 'Lung Sclerosing Hemangioma' SubClassOf 'hemangioma' http://purl.obolibrary.org/obo/UBERON_0001057 corpus allatum 'corpus allatum' SubClassOf 'gland' 'corpus allatum' SubClassOf 'endocrine gland' 'corpus allatum' SubClassOf 'part_of' some 'gland' 'corpus allatum' SubClassOf 'part_of' some 'endocrine system' http://purl.obolibrary.org/obo/UBERON_0001058 mushroom body 'mushroom body' SubClassOf 'part_of' some 'brain' http://purl.obolibrary.org/obo/UBERON_0001059 pars intercerebralis 'pars intercerebralis' SubClassOf 'part_of' some 'brain' http://purl.obolibrary.org/obo/UBERON_0001053 neurohemal organ 'neurohemal organ' SubClassOf 'animal component' 'neurohemal organ' SubClassOf 'part_of' some 'nervous system' 'neurohemal organ' SubClassOf http://purl.obolibrary.org/obo/UBERON_0010133 http://purl.obolibrary.org/obo/UBERON_0001054 Malpighian tubule 'Malpighian tubule' SubClassOf 'animal component' 'Malpighian tubule' SubClassOf http://purl.obolibrary.org/obo/UBERON_0009773 http://purl.obolibrary.org/obo/UBERON_0002386 forearm 'forearm' SubClassOf 'zeugopod' http://purl.obolibrary.org/obo/UBERON_0001056 corpus cardiacum 'corpus cardiacum' SubClassOf 'gland' 'corpus cardiacum' SubClassOf 'neurohemal organ' 'corpus cardiacum' SubClassOf 'part_of' some 'gland' 'corpus cardiacum' SubClassOf 'part_of' some 'endocrine system' http://purl.obolibrary.org/obo/UBERON_0002387 foot 'foot' SubClassOf 'part_of' some 'leg' http://www.orpha.net/ORDO/Orphanet_1264 Tricho-retino-dento-digital syndrome 'Tricho-retino-dento-digital syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Tricho-retino-dento-digital syndrome' SubClassOf 'Ectodermal dysplasia syndrome' http://www.orpha.net/ORDO/Orphanet_2596 Myopathy and diabetes mellitus 'Myopathy and diabetes mellitus' SubClassOf 'Maternally-inherited mitochondrial myopathy' 'Myopathy and diabetes mellitus' SubClassOf 'Muscular lipidosis' 'Myopathy and diabetes mellitus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015888 'Myopathy and diabetes mellitus' SubClassOf 'Maternally-inherited mitochondrial myopathy' 'Myopathy and diabetes mellitus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Myopathy and diabetes mellitus' SubClassOf 'Muscular lipidosis' http://www.orpha.net/ORDO/Orphanet_1262 Böök syndrome 'Böök syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Böök syndrome' SubClassOf 'Ectodermal dysplasia syndrome' http://www.orpha.net/ORDO/Orphanet_166078 Von Willebrand disease type 1 'Von Willebrand disease type 1' SubClassOf 'Von Willebrand disease' 'Von Willebrand disease type 1' SubClassOf 'Von Willebrand disease' http://www.orpha.net/ORDO/Orphanet_1263 Boomerang dysplasia 'Boomerang dysplasia' SubClassOf 'Primary bone dysplasia with multiple joint dislocations' 'Boomerang dysplasia' SubClassOf 'Filamin-related bone disorder' 'Boomerang dysplasia' SubClassOf 'Primary bone dysplasia with multiple joint dislocations' 'Boomerang dysplasia' SubClassOf 'Filamin-related bone disorder' 'Boomerang dysplasia' SubClassOf 'osteochondrodysplasia' http://www.orpha.net/ORDO/Orphanet_2593 Tubular aggregate myopathy 'Tubular aggregate myopathy' SubClassOf 'Congenital myopathy' 'Tubular aggregate myopathy' SubClassOf 'Congenital myopathy' http://www.orpha.net/ORDO/Orphanet_1260 Sino-auricular heart block 'Sino-auricular heart block' SubClassOf 'Genetic cardiac rhythm disease' 'Sino-auricular heart block' SubClassOf 'Genetic cardiac rhythm disease' http://www.orpha.net/ORDO/Orphanet_1261 Bonnemann-Meinecke-Reich syndrome 'Bonnemann-Meinecke-Reich syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Bonnemann-Meinecke-Reich syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Bonnemann-Meinecke-Reich syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Bonnemann-Meinecke-Reich syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_2591 Infantile myofibromatosis 'Infantile myofibromatosis' SubClassOf 'Genetic soft tissue tumor' 'Infantile myofibromatosis' SubClassOf 'Genetic skin tumor' 'Infantile myofibromatosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 'Infantile myofibromatosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0056804 'Infantile myofibromatosis' SubClassOf 'Genetic soft tissue tumor' 'Infantile myofibromatosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003342 'Infantile myofibromatosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044335 'Infantile myofibromatosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016123 'Infantile myofibromatosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021440 'Infantile myofibromatosis' SubClassOf 'Genetic skin tumor' http://www.ebi.ac.uk/efo/EFO_0000250 obsolete_amnioserosa 'obsolete_amnioserosa' SubClassOf 'obsolete class' 'obsolete_amnioserosa' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2590 Hereditary myoclonus - progressive distal muscular atrophy 'Hereditary myoclonus - progressive distal muscular atrophy' SubClassOf 'Progressive epilepsy and/or ataxia with myoclonus as a major feature' 'Hereditary myoclonus - progressive distal muscular atrophy' SubClassOf 'Progressive epilepsy and/or ataxia with myoclonus as a major feature' 'Hereditary myoclonus - progressive distal muscular atrophy' SubClassOf 'Genetic motor neuron disease' http://www.ebi.ac.uk/efo/EFO_0000251 obsolete_amnioserosa anlage in statu nascendi 'obsolete_amnioserosa anlage in statu nascendi' SubClassOf 'obsolete class' 'obsolete_amnioserosa anlage in statu nascendi' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_166073 Pontocerebellar hypoplasia type 6 'Pontocerebellar hypoplasia type 6' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Pontocerebellar hypoplasia type 6' SubClassOf 'Non-syndromic pontocerebellar hypoplasia' 'Pontocerebellar hypoplasia type 6' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Pontocerebellar hypoplasia type 6' SubClassOf 'Non-syndromic pontocerebellar hypoplasia' http://www.ebi.ac.uk/efo/EFO_0000252 obsolete_amygdala 'obsolete_amygdala' SubClassOf 'obsolete class' 'obsolete_amygdala' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000253 amyotrophic lateral sclerosis 'amyotrophic lateral sclerosis' SubClassOf 'motor neuron disease' 'amyotrophic lateral sclerosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003182 'amyotrophic lateral sclerosis' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'amyotrophic lateral sclerosis' SubClassOf 'has_disease_location' some 'motor neuron' 'amyotrophic lateral sclerosis' SubClassOf 'realized_in' some ('disease course' and ('has part' some 'neurodegeneration')) 'amyotrophic lateral sclerosis' SubClassOf 'motor neuron disease' 'amyotrophic lateral sclerosis' SubClassOf 'neurodegenerative disease' http://purl.obolibrary.org/obo/CHEBI_20070 3-hydroxyhexanoate '3-hydroxyhexanoate' SubClassOf 'chemical entity' '3-hydroxyhexanoate' SubClassOf 'chemical entity' http://www.ebi.ac.uk/efo/EFO_0000255 angioimmunoblastic T-cell lymphoma 'angioimmunoblastic T-cell lymphoma' SubClassOf 'lymphoma' 'angioimmunoblastic T-cell lymphoma' SubClassOf 'neoplasm of mature T-cells or NK-cells' 'angioimmunoblastic T-cell lymphoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000430 http://www.ebi.ac.uk/efo/EFO_0000256 obsolete_anlage in statu nascendi 'obsolete_anlage in statu nascendi' SubClassOf 'obsolete class' 'obsolete_anlage in statu nascendi' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000257 obsolete_antennal primordium 'obsolete_antennal primordium' SubClassOf 'obsolete class' 'obsolete_antennal primordium' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2598 Mitochondrial myopathy and sideroblastic anemia 'Mitochondrial myopathy and sideroblastic anemia' SubClassOf 'Constitutional sideroblastic anemia' 'Mitochondrial myopathy and sideroblastic anemia' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Mitochondrial myopathy and sideroblastic anemia' SubClassOf 'Mitochondrial myopathy' 'Mitochondrial myopathy and sideroblastic anemia' SubClassOf 'Constitutional sideroblastic anemia' 'Mitochondrial myopathy and sideroblastic anemia' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Mitochondrial myopathy and sideroblastic anemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000577 'Mitochondrial myopathy and sideroblastic anemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000863 'Mitochondrial myopathy and sideroblastic anemia' SubClassOf 'Mitochondrial myopathy' http://www.ebi.ac.uk/efo/EFO_0000259 obsolete_anterior endoderm anlage 'obsolete_anterior endoderm anlage' SubClassOf 'obsolete class' 'obsolete_anterior endoderm anlage' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2597 Mitochondrial myopathy - lactic acidosis - deafness 'Mitochondrial myopathy - lactic acidosis - deafness' SubClassOf 'Mitochondrial myopathy' 'Mitochondrial myopathy - lactic acidosis - deafness' SubClassOf 'Syndromic genetic deafness' 'Mitochondrial myopathy - lactic acidosis - deafness' SubClassOf 'Syndromic genetic deafness' 'Mitochondrial myopathy - lactic acidosis - deafness' SubClassOf http://purl.obolibrary.org/obo/MONDO_0009639 http://purl.obolibrary.org/obo/CHEBI_32063 propylparaben 'propylparaben' SubClassOf 'has_role' some 'antifungal drug' http://www.orpha.net/ORDO/Orphanet_1275 Brachydactyly - elbow wrist dysplasia 'Brachydactyly - elbow wrist dysplasia' SubClassOf 'Syndrome with brachydactyly' 'Brachydactyly - elbow wrist dysplasia' SubClassOf 'Syndrome with brachydactyly' http://www.orpha.net/ORDO/Orphanet_1276 Brachydactyly - arterial hypertension 'Brachydactyly - arterial hypertension' SubClassOf 'Syndrome with brachydactyly' 'Brachydactyly - arterial hypertension' SubClassOf 'Genetic hypertension' 'Brachydactyly - arterial hypertension' SubClassOf 'Syndrome with brachydactyly' 'Brachydactyly - arterial hypertension' SubClassOf 'Genetic hypertension' http://www.orpha.net/ORDO/Orphanet_1272 Fine-Lubinsky syndrome 'Fine-Lubinsky syndrome' SubClassOf 'Syndromic cataract' 'Fine-Lubinsky syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Fine-Lubinsky syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Fine-Lubinsky syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Fine-Lubinsky syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Fine-Lubinsky syndrome' SubClassOf 'Syndromic cataract' http://www.orpha.net/ORDO/Orphanet_166063 Pontocerebellar hypoplasia type 4 'Pontocerebellar hypoplasia type 4' SubClassOf 'Non-syndromic pontocerebellar hypoplasia' 'Pontocerebellar hypoplasia type 4' SubClassOf 'Non-syndromic pontocerebellar hypoplasia' http://www.ebi.ac.uk/efo/EFO_0000240 obsolete_adult eye primordium 'obsolete_adult eye primordium' SubClassOf 'obsolete class' 'obsolete_adult eye primordium' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1270 Bowen-Conradi syndrome 'Bowen-Conradi syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Bowen-Conradi syndrome' SubClassOf 'Syndrome with microcephaly as major feature' 'Bowen-Conradi syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Bowen-Conradi syndrome' SubClassOf 'Syndrome with microcephaly as major feature' 'Bowen-Conradi syndrome' SubClassOf 'autosomal recessive disease' 'Bowen-Conradi syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 http://www.ebi.ac.uk/efo/EFO_0000241 obsolete_adult foregut precursor 'obsolete_adult foregut precursor' SubClassOf 'obsolete class' 'obsolete_adult foregut precursor' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000242 obsolete_adult hindgut precursor 'obsolete_adult hindgut precursor' SubClassOf 'obsolete class' 'obsolete_adult hindgut precursor' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000243 obsolete_Malpighian tubule 'obsolete_Malpighian tubule' SubClassOf 'obsolete class' 'obsolete_Malpighian tubule' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000245 obsolete_adult muscle precursor primordium 'obsolete_adult muscle precursor primordium' SubClassOf 'obsolete class' 'obsolete_adult muscle precursor primordium' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_166068 Pontocerebellar hypoplasia type 5 'Pontocerebellar hypoplasia type 5' SubClassOf 'Non-syndromic pontocerebellar hypoplasia' 'Pontocerebellar hypoplasia type 5' SubClassOf 'Non-syndromic pontocerebellar hypoplasia' http://www.ebi.ac.uk/efo/EFO_0000247 obsolete_Aicardi syndrome 'obsolete_Aicardi syndrome' SubClassOf 'obsolete class' 'obsolete_Aicardi syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1277 Brachydactyly - mesomelia - intellectual disability - heart defects 'Brachydactyly - mesomelia - intellectual disability - heart defects' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Brachydactyly - mesomelia - intellectual disability - heart defects' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Brachydactyly - mesomelia - intellectual disability - heart defects' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Brachydactyly - mesomelia - intellectual disability - heart defects' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.ebi.ac.uk/efo/EFO_0000248 alveolar rhabdomyosarcoma 'alveolar rhabdomyosarcoma' SubClassOf 'rhabdomyosarcoma' 'alveolar rhabdomyosarcoma' SubClassOf 'rhabdomyosarcoma' http://www.orpha.net/ORDO/Orphanet_1278 Brachydactyly - preaxial hallux varus 'Brachydactyly - preaxial hallux varus' SubClassOf 'Syndrome with brachydactyly' 'Brachydactyly - preaxial hallux varus' SubClassOf 'Syndrome with brachydactyly' http://www.ebi.ac.uk/efo/EFO_0000249 Alzheimer's disease 'Alzheimer's disease' SubClassOf 'tauopathy' 'Alzheimer's disease' SubClassOf 'cognitive disorder' 'Alzheimer's disease' SubClassOf 'realized_in' some ('disease course' and ('has part' some 'microtubule-associated protein tau')) 'Alzheimer's disease' SubClassOf 'realized_in' some ('disease course' and ('has part' some 'neurodegeneration')) 'Alzheimer's disease' SubClassOf 'has_disease_location' some 'central nervous system' 'Alzheimer's disease' SubClassOf 'tauopathy' http://purl.obolibrary.org/obo/PO_0004010 meristematic cell 'meristematic cell' SubClassOf 'native plant cell' 'meristematic cell' SubClassOf 'native plant cell' http://www.ebi.ac.uk/efo/EFO_0000270 asthma 'asthma' SubClassOf 'bronchial disease' 'asthma' SubClassOf 'bronchial disease' http://purl.obolibrary.org/obo/CLO_0014404 ND02579 'ND02579' SubClassOf 'bearer_of' some 'Parkinson's disease' 'ND02579' SubClassOf 'cultured cell' 'ND02579' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'ND02579' SubClassOf 'has_quality' some 'male' http://www.ebi.ac.uk/efo/EFO_0000271 obsolete_astrocytic tumor 'obsolete_astrocytic tumor' SubClassOf 'obsolete class' 'obsolete_astrocytic tumor' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_166093 Von Willebrand disease type 2N 'Von Willebrand disease type 2N' SubClassOf 'Von Willebrand disease type 2' 'Von Willebrand disease type 2N' SubClassOf 'Von Willebrand disease type 2' http://www.ebi.ac.uk/efo/EFO_0000272 astrocytoma 'astrocytoma' SubClassOf 'glioma' 'astrocytoma' SubClassOf 'has_disease_location' some 'brain' 'astrocytoma' SubClassOf 'glioma' http://www.orpha.net/ORDO/Orphanet_166096 Von Willebrand disease type 3 'Von Willebrand disease type 3' SubClassOf 'Von Willebrand disease' 'Von Willebrand disease type 3' SubClassOf 'Von Willebrand disease' http://www.ebi.ac.uk/efo/EFO_0000274 atopic eczema 'atopic eczema' SubClassOf 'allergy' 'atopic eczema' SubClassOf 'inflammatory skin disease' 'atopic eczema' SubClassOf 'allergy' 'atopic eczema' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002406 'atopic eczema' SubClassOf 'inflammatory skin disease' http://www.ebi.ac.uk/efo/EFO_0000275 atrial fibrillation 'atrial fibrillation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0007263 'atrial fibrillation' SubClassOf 'has_disease_location' some 'cardiac atrium' http://www.ebi.ac.uk/efo/EFO_0000276 obsolete_atrioventricular node 'obsolete_atrioventricular node' SubClassOf 'obsolete class' 'obsolete_atrioventricular node' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000277 obsolete_cardiac atrium 'obsolete_cardiac atrium' SubClassOf 'obsolete class' 'obsolete_cardiac atrium' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000278 pancreatitis 'pancreatitis' SubClassOf 'endocrine system disease' 'pancreatitis' SubClassOf 'digestive system disease' 'pancreatitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021166 'pancreatitis' SubClassOf 'pancreas disease' 'pancreatitis' SubClassOf 'has_disease_location' only 'pancreas' http://www.ebi.ac.uk/efo/EFO_0000279 azoospermia 'azoospermia' SubClassOf 'male reproductive system disease' 'azoospermia' SubClassOf 'male infertility' 'azoospermia' SubClassOf 'has_disease_location' some 'sperm' 'azoospermia' SubClassOf 'has_disease_location' only 'male reproductive system' 'azoospermia' SubClassOf 'has_disease_location' some 'male reproductive system' http://www.orpha.net/ORDO/Orphanet_178040 Peripheral precocious puberty 'Peripheral precocious puberty' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000088 http://purl.obolibrary.org/obo/CHEBI_5832 hypaphorine 'hypaphorine' SubClassOf 'chemical entity' 'hypaphorine' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_166090 Von Willebrand disease type 2M 'Von Willebrand disease type 2M' SubClassOf 'Von Willebrand disease type 2' 'Von Willebrand disease type 2M' SubClassOf 'Von Willebrand disease type 2' http://purl.obolibrary.org/obo/PO_0005352 xylem 'xylem' SubClassOf 'vascular system' 'xylem' SubClassOf 'vascular system' http://purl.obolibrary.org/obo/CLO_0014410 GM17240 'GM17240' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17240' SubClassOf 'cultured cell' 'GM17240' SubClassOf 'has_quality' some 'male' http://www.orpha.net/ORDO/Orphanet_1297 Branchio-oculo-facial syndrome 'Branchio-oculo-facial syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Branchio-oculo-facial syndrome' SubClassOf 'Orofacial clefting syndrome' 'Branchio-oculo-facial syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 'Branchio-oculo-facial syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 'Branchio-oculo-facial syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Branchio-oculo-facial syndrome' SubClassOf 'Orofacial clefting syndrome' http://www.orpha.net/ORDO/Orphanet_166087 Von Willebrand disease type 2B 'Von Willebrand disease type 2B' SubClassOf 'Von Willebrand disease type 2' 'Von Willebrand disease type 2B' SubClassOf 'Von Willebrand disease type 2' http://purl.obolibrary.org/obo/CLO_0014411 GM17241 'GM17241' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17241' SubClassOf 'has_quality' some 'male' 'GM17241' SubClassOf 'cultured cell' http://purl.obolibrary.org/obo/CLO_0014412 GM17242 'GM17242' SubClassOf 'cultured cell' 'GM17242' SubClassOf 'has_quality' some 'female' 'GM17242' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://www.orpha.net/ORDO/Orphanet_1295 Brachytelephalangy - dysmorphism - Kallmann syndrome 'Brachytelephalangy - dysmorphism - Kallmann syndrome' SubClassOf 'Syndrome with brachydactyly' 'Brachytelephalangy - dysmorphism - Kallmann syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Brachytelephalangy - dysmorphism - Kallmann syndrome' SubClassOf 'Syndrome with brachydactyly' 'Brachytelephalangy - dysmorphism - Kallmann syndrome' SubClassOf 'Rare disorder with hypogonadotropic hypogonadism' 'Brachytelephalangy - dysmorphism - Kallmann syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/CLO_0014413 GM17243 'GM17243' SubClassOf 'cultured cell' 'GM17243' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17243' SubClassOf 'has_quality' some 'male' http://www.orpha.net/ORDO/Orphanet_1296 Lambert syndrome 'Lambert syndrome' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Lambert syndrome' SubClassOf 'Otomandibular dysplasia associated with monogenic syndromes' 'Lambert syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Lambert syndrome' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Lambert syndrome' SubClassOf 'Otomandibular dysplasia associated with monogenic syndromes' 'Lambert syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 'Lambert syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/CLO_0014414 GM17244 'GM17244' SubClassOf 'cultured cell' 'GM17244' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17244' SubClassOf 'has_quality' some 'male' http://www.orpha.net/ORDO/Orphanet_1293 Brachyolmia 'Brachyolmia' SubClassOf 'Spondylodysplastic dysplasia' 'Brachyolmia' SubClassOf 'Spondylodysplastic dysplasia' 'Brachyolmia' SubClassOf 'osteochondrodysplasia' http://purl.obolibrary.org/obo/CLO_0014415 GM17245 'GM17245' SubClassOf 'has_quality' some 'female' 'GM17245' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17245' SubClassOf 'cultured cell' http://purl.obolibrary.org/obo/CLO_0014416 GM17246 'GM17246' SubClassOf 'has_quality' some 'female' 'GM17246' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17246' SubClassOf 'cultured cell' http://purl.obolibrary.org/obo/CLO_0014417 GM17247 'GM17247' SubClassOf 'has_quality' some 'female' 'GM17247' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17247' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0000262 obsolete_anterior midgut primordium 'obsolete_anterior midgut primordium' SubClassOf 'obsolete class' 'obsolete_anterior midgut primordium' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1292 Brachymorphism - onychodysplasia - dysphalangism 'Brachymorphism - onychodysplasia - dysphalangism' SubClassOf 'Syndrome with brachydactyly' 'Brachymorphism - onychodysplasia - dysphalangism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007 'Brachymorphism - onychodysplasia - dysphalangism' SubClassOf 'Syndrome with brachydactyly' http://www.orpha.net/ORDO/Orphanet_166084 Von Willebrand disease type 2A 'Von Willebrand disease type 2A' SubClassOf 'Von Willebrand disease type 2' 'Von Willebrand disease type 2A' SubClassOf 'Von Willebrand disease type 2' http://www.ebi.ac.uk/efo/EFO_0000265 obsolete_aorta 'obsolete_aorta' SubClassOf 'obsolete class' 'obsolete_aorta' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000266 aortic stenosis 'aortic stenosis' SubClassOf 'aortic valve disease' 'aortic stenosis' SubClassOf 'aortic disease' 'aortic stenosis' SubClassOf 'aortic valve disease' 'aortic stenosis' SubClassOf 'has_disease_location' only 'aorta' http://www.ebi.ac.uk/efo/EFO_0000267 obsolete_apical meristem 'obsolete_apical meristem' SubClassOf 'obsolete class' 'obsolete_apical meristem' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000268 obsolete_apoptotic amnioserosa 'obsolete_apoptotic amnioserosa' SubClassOf 'obsolete class' 'obsolete_apoptotic amnioserosa' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1299 Branchio-skeleto-genital syndrome 'Branchio-skeleto-genital syndrome' SubClassOf 'Syndromic urogenital tract malformation' 'Branchio-skeleto-genital syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Branchio-skeleto-genital syndrome' SubClassOf 'Syndromic urogenital tract malformation' 'Branchio-skeleto-genital syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Branchio-skeleto-genital syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Branchio-skeleto-genital syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 http://purl.obolibrary.org/obo/CHEBI_4509 diclofenac sodium 'diclofenac sodium' SubClassOf 'has_role' some 'anti-inflammatory drug' http://www.orpha.net/ORDO/Orphanet_216796 Osteogenesis imperfecta type 1 'Osteogenesis imperfecta type 1' SubClassOf 'Osteogenesis imperfecta' 'Osteogenesis imperfecta type 1' SubClassOf 'Osteogenesis imperfecta' http://purl.obolibrary.org/obo/CLO_0014408 GM17248 'GM17248' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17248' SubClassOf 'has_quality' some 'male' 'GM17248' SubClassOf 'cultured cell' http://purl.obolibrary.org/obo/CLO_0014409 GM17249 'GM17249' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17249' SubClassOf 'has_quality' some 'male' 'GM17249' SubClassOf 'cultured cell' http://www.orpha.net/ORDO/Orphanet_166081 Von Willebrand disease type 2 'Von Willebrand disease type 2' SubClassOf 'Von Willebrand disease' 'Von Willebrand disease type 2' SubClassOf 'Von Willebrand disease' http://www.orpha.net/ORDO/Orphanet_166032 Multiple epiphyseal dysplasia, with miniepiphyses 'Multiple epiphyseal dysplasia, with miniepiphyses' SubClassOf 'Multiple epiphyseal dysplasia' 'Multiple epiphyseal dysplasia, with miniepiphyses' SubClassOf 'Multiple epiphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_2551 Microspherophakia - metaphyseal dysplasia 'Microspherophakia - metaphyseal dysplasia' SubClassOf 'Syndromic developmental defect of the eye' 'Microspherophakia - metaphyseal dysplasia' SubClassOf 'Lens size anomaly' 'Microspherophakia - metaphyseal dysplasia' SubClassOf 'Syndromic developmental defect of the eye' 'Microspherophakia - metaphyseal dysplasia' SubClassOf 'Lens size anomaly' http://www.ebi.ac.uk/efo/EFO_0000290 obsolete_bladder 'obsolete_bladder' SubClassOf 'obsolete class' 'obsolete_bladder' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000291 obsolete_bladder MMHCC 'obsolete_bladder MMHCC' SubClassOf 'obsolete class' 'obsolete_bladder MMHCC' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000292 bladder carcinoma 'bladder carcinoma' SubClassOf 'bladder disease' 'bladder carcinoma' SubClassOf 'carcinoma' 'bladder carcinoma' SubClassOf 'has_disease_location' some 'urinary bladder' 'bladder carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001187 'bladder carcinoma' SubClassOf 'carcinoma' http://www.ebi.ac.uk/efo/EFO_0000293 obsolete_bladder mucosa 'obsolete_bladder mucosa' SubClassOf 'obsolete class' 'obsolete_bladder mucosa' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000294 bladder tumor 'bladder tumor' SubClassOf 'bladder disease' 'bladder tumor' SubClassOf 'neoplasm' 'bladder tumor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021066 'bladder tumor' SubClassOf 'has_disease_location' some 'urinary bladder' 'bladder tumor' SubClassOf 'bladder disease' http://www.ebi.ac.uk/efo/EFO_0000295 obsolete_blastocyst 'obsolete_blastocyst' SubClassOf 'obsolete class' 'obsolete_blastocyst' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_276405 Hyperbiliverdinemia 'Hyperbiliverdinemia' SubClassOf 'liver disease' 'Hyperbiliverdinemia' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://www.ebi.ac.uk/efo/EFO_0000296 obsolete_blood 'obsolete_blood' SubClassOf 'obsolete class' 'obsolete_blood' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1228 Banki syndrome 'Banki syndrome' SubClassOf 'Syndrome with synostosis or other joint formation defect' 'Banki syndrome' SubClassOf 'Syndrome with synostosis or other joint formation defect' http://www.orpha.net/ORDO/Orphanet_1229 Congenital intrauterine infection-like syndrome 'Congenital intrauterine infection-like syndrome' SubClassOf 'Rare genetic neurological disorder' 'Congenital intrauterine infection-like syndrome' SubClassOf 'Rare genetic neurological disorder' 'Congenital intrauterine infection-like syndrome' SubClassOf 'autosomal recessive disease' http://www.ebi.ac.uk/efo/EFO_0000298 obsolete_bone 'obsolete_bone' SubClassOf 'obsolete class' 'obsolete_bone' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1226 Bamforth-Lazarus syndrome 'Bamforth-Lazarus syndrome' SubClassOf 'Syndromic hypothyroidism' 'Bamforth-Lazarus syndrome' SubClassOf 'Orofacial clefting syndrome' 'Bamforth-Lazarus syndrome' SubClassOf 'Syndromic hypothyroidism' 'Bamforth-Lazarus syndrome' SubClassOf 'Orofacial clefting syndrome' http://www.orpha.net/ORDO/Orphanet_2558 Mikati-Najjar-Sahli syndrome 'Mikati-Najjar-Sahli syndrome' SubClassOf 'disease' 'Mikati-Najjar-Sahli syndrome' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://purl.obolibrary.org/obo/CLO_0013138 GM17294 'GM17294' SubClassOf 'cultured cell' 'GM17294' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17294' SubClassOf 'has_quality' some 'female' http://www.ebi.ac.uk/efo/EFO_0000299 obsolete_bone MMHCC 'obsolete_bone MMHCC' SubClassOf 'obsolete class' 'obsolete_bone MMHCC' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1227 Bangstad syndrome 'Bangstad syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015126 http://www.orpha.net/ORDO/Orphanet_2557 Mietens syndrome 'Mietens syndrome' SubClassOf 'Syndromic corneal dystrophy' 'Mietens syndrome' SubClassOf 'Syndromic corneal dystrophy' 'Mietens syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007 http://purl.obolibrary.org/obo/CLO_0013137 GM17293 'GM17293' SubClassOf 'cultured cell' 'GM17293' SubClassOf 'has_quality' some 'female' 'GM17293' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://www.orpha.net/ORDO/Orphanet_2556 Microphthalmia with linear skin defects syndrome 'Microphthalmia with linear skin defects syndrome' SubClassOf 'Syndromic microphthalmia' 'Microphthalmia with linear skin defects syndrome' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Microphthalmia with linear skin defects syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Microphthalmia with linear skin defects syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Microphthalmia with linear skin defects syndrome' SubClassOf 'Syndromic anorectal malformation' 'Microphthalmia with linear skin defects syndrome' SubClassOf 'Rare disease with glaucoma as a major feature' 'Microphthalmia with linear skin defects syndrome' SubClassOf 'Syndromic microphthalmia' 'Microphthalmia with linear skin defects syndrome' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Microphthalmia with linear skin defects syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 'Microphthalmia with linear skin defects syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Microphthalmia with linear skin defects syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019294 'Microphthalmia with linear skin defects syndrome' SubClassOf 'Syndromic anorectal malformation' 'Microphthalmia with linear skin defects syndrome' SubClassOf 'Rare disease with glaucoma as a major feature' http://purl.obolibrary.org/obo/CLO_0013136 GM17292 'GM17292' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17292' SubClassOf 'cultured cell' 'GM17292' SubClassOf 'has_quality' some 'male' http://www.orpha.net/ORDO/Orphanet_1225 Baller-Gerold syndrome 'Baller-Gerold syndrome' SubClassOf 'Syndromic craniosynostosis' 'Baller-Gerold syndrome' SubClassOf 'Syndromic anorectal malformation' 'Baller-Gerold syndrome' SubClassOf 'Syndromic craniosynostosis' 'Baller-Gerold syndrome' SubClassOf 'Syndromic anorectal malformation' http://www.orpha.net/ORDO/Orphanet_166035 Metaphyseal chondrodysplasia - retinitis pigmentosa 'Metaphyseal chondrodysplasia - retinitis pigmentosa' SubClassOf 'Multiple metaphyseal dysplasia' 'Metaphyseal chondrodysplasia - retinitis pigmentosa' SubClassOf 'Multiple metaphyseal dysplasia' http://purl.obolibrary.org/obo/CLO_0013135 GM17291 'GM17291' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17291' SubClassOf 'cultured cell' 'GM17291' SubClassOf 'has_quality' some 'male' http://www.orpha.net/ORDO/Orphanet_166038 Metaphyseal chondrodysplasia, Kaitila type 'Metaphyseal chondrodysplasia, Kaitila type' SubClassOf 'Multiple metaphyseal dysplasia' 'Metaphyseal chondrodysplasia, Kaitila type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000138 'Metaphyseal chondrodysplasia, Kaitila type' SubClassOf 'Multiple metaphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_2554 Ear-patella-short stature syndrome 'Ear-patella-short stature syndrome' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Ear-patella-short stature syndrome' SubClassOf 'Patellar dysostosis' 'Ear-patella-short stature syndrome' SubClassOf 'Microcephalic primordial dwarfism' 'Ear-patella-short stature syndrome' SubClassOf 'autosomal recessive disease' 'Ear-patella-short stature syndrome' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Ear-patella-short stature syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007 'Ear-patella-short stature syndrome' SubClassOf 'Patellar dysostosis' 'Ear-patella-short stature syndrome' SubClassOf 'Microcephalic primordial dwarfism' http://www.orpha.net/ORDO/Orphanet_94068 Spondyloepiphyseal dysplasia congenita 'Spondyloepiphyseal dysplasia congenita' SubClassOf 'Type 2 collagen-related bone disorder' 'Spondyloepiphyseal dysplasia congenita' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Spondyloepiphyseal dysplasia congenita' SubClassOf 'Type 2 collagen-related bone disorder' 'Spondyloepiphyseal dysplasia congenita' SubClassOf 'CHST3-related skeletal dysplasia' 'Spondyloepiphyseal dysplasia congenita' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Spondyloepiphyseal dysplasia congenita' SubClassOf http://purl.obolibrary.org/obo/MONDO_0022800 http://www.orpha.net/ORDO/Orphanet_94066 Severe intellectual disability - epilepsy - anal anomalies - distal phalangeal hypoplasia 'Severe intellectual disability - epilepsy - anal anomalies - distal phalangeal hypoplasia' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Severe intellectual disability - epilepsy - anal anomalies - distal phalangeal hypoplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Severe intellectual disability - epilepsy - anal anomalies - distal phalangeal hypoplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Severe intellectual disability - epilepsy - anal anomalies - distal phalangeal hypoplasia' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_178025 Non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations 'Non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations' SubClassOf 'Non-acquired combined pituitary hormone deficiency' 'Non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations' SubClassOf 'Non-acquired combined pituitary hormone deficiency' http://www.orpha.net/ORDO/Orphanet_94065 15q24 microdeletion syndrome '15q24 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 15' '15q24 microdeletion syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '15q24 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000761 '15q24 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 15' '15q24 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044699 http://www.orpha.net/ORDO/Orphanet_94064 Deafness-infertility syndrome 'Deafness-infertility syndrome' SubClassOf 'Male infertility due to sperm motility disorder' 'Deafness-infertility syndrome' SubClassOf 'Syndromic genetic deafness' 'Deafness-infertility syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 15' 'Deafness-infertility syndrome' SubClassOf 'Male infertility due to sperm motility disorder' 'Deafness-infertility syndrome' SubClassOf 'Syndromic genetic deafness' 'Deafness-infertility syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 15' http://www.orpha.net/ORDO/Orphanet_94063 12q14 microdeletion syndrome '12q14 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 12' '12q14 microdeletion syndrome' SubClassOf 'Primary bone dysplasia with increased bone density' '12q14 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 '12q14 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 '12q14 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 12' '12q14 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 '12q14 microdeletion syndrome' SubClassOf 'Primary bone dysplasia with increased bone density' http://www.orpha.net/ORDO/Orphanet_1231 Barber-Say syndrome 'Barber-Say syndrome' SubClassOf 'Secondary ectropion' 'Barber-Say syndrome' SubClassOf 'Hypertrichosis' 'Barber-Say syndrome' SubClassOf 'Congenital entropion' 'Barber-Say syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Barber-Say syndrome' SubClassOf 'Microblepharon - ablephara' 'Barber-Say syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Barber-Say syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001334 'Barber-Say syndrome' SubClassOf 'Secondary ectropion' 'Barber-Say syndrome' SubClassOf 'Congenital entropion' 'Barber-Say syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Barber-Say syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Barber-Say syndrome' SubClassOf 'Microblepharon - ablephara' 'Barber-Say syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_2563 MOMO syndrome 'MOMO syndrome' SubClassOf 'Syndromic obesity' 'MOMO syndrome' SubClassOf 'Syndromic obesity' http://www.orpha.net/ORDO/Orphanet_2561 Ackerman syndrome 'Ackerman syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Ackerman syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Ackerman syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Ackerman syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Ackerman syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Ackerman syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' http://www.ebi.ac.uk/efo/EFO_0000280 Barrett's esophagus 'Barrett's esophagus' SubClassOf 'esophageal disease' 'Barrett's esophagus' SubClassOf 'esophageal disease' 'Barrett's esophagus' SubClassOf 'has_disease_location' only 'esophagus' http://www.orpha.net/ORDO/Orphanet_2560 Möbius syndrome - axonal neuropathy - hypogonadotropic hypogonadism 'Möbius syndrome - axonal neuropathy - hypogonadotropic hypogonadism' SubClassOf 'Rare disorder with hypogonadotropic hypogonadism' 'Möbius syndrome - axonal neuropathy - hypogonadotropic hypogonadism' SubClassOf 'Rare disorder with hypogonadotropic hypogonadism' http://purl.obolibrary.org/obo/CLO_0013140 GM17290 'GM17290' SubClassOf 'cultured cell' 'GM17290' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17290' SubClassOf 'has_quality' some 'male' http://www.ebi.ac.uk/efo/EFO_0000281 basal-like carcinoma 'basal-like carcinoma' SubClassOf 'invasive ductal carcinoma' 'basal-like carcinoma' SubClassOf 'triple-negative breast cancer' 'basal-like carcinoma' SubClassOf 'invasive ductal carcinoma' http://www.ebi.ac.uk/efo/EFO_0000284 benign prostatic hyperplasia 'benign prostatic hyperplasia' SubClassOf 'prostate disease' 'benign prostatic hyperplasia' SubClassOf 'hyperplasia' 'benign prostatic hyperplasia' SubClassOf 'hyperplasia' 'benign prostatic hyperplasia' SubClassOf 'prostate disease' 'benign prostatic hyperplasia' SubClassOf 'has_disease_location' some 'prostate gland' 'benign prostatic hyperplasia' SubClassOf 'has_disease_location' some ('prostate gland' or ('part_of' some 'prostate gland')) http://www.orpha.net/ORDO/Orphanet_1239 Behr syndrome 'Behr syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018609 http://www.orpha.net/ORDO/Orphanet_166029 Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia 'Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia' SubClassOf 'Multiple epiphyseal dysplasia' 'Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia' SubClassOf 'Multiple epiphyseal dysplasia' http://www.ebi.ac.uk/efo/EFO_0000286 obsolete_biomaterial factor 'obsolete_biomaterial factor' SubClassOf 'obsolete class' 'obsolete_biomaterial factor' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1237 Beemer-Ertbruggen syndrome 'Beemer-Ertbruggen syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Beemer-Ertbruggen syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.ebi.ac.uk/efo/EFO_0000289 bipolar disorder 'bipolar disorder' SubClassOf 'mood disorder' 'bipolar disorder' SubClassOf 'disease has feature' some http://purl.obolibrary.org/obo/MONDO_0004617 'bipolar disorder' SubClassOf 'mood disorder' http://www.orpha.net/ORDO/Orphanet_166024 Multiple epiphyseal dysplasia, Al-Gazali type 'Multiple epiphyseal dysplasia, Al-Gazali type' SubClassOf 'Multiple epiphyseal dysplasia' 'Multiple epiphyseal dysplasia, Al-Gazali type' SubClassOf 'Multiple epiphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_2565 Mononen-Karnes-Senac syndrome 'Mononen-Karnes-Senac syndrome' SubClassOf 'Syndrome with brachydactyly' 'Mononen-Karnes-Senac syndrome' SubClassOf 'Syndrome with brachydactyly' http://purl.obolibrary.org/obo/HP_0004209 Clinodactyly of the 5th finger 'Clinodactyly of the 5th finger' SubClassOf 'Clinodactyly' 'Clinodactyly of the 5th finger' SubClassOf 'Clinodactyly' http://www.orpha.net/ORDO/Orphanet_1234 Bartsocas-Papas syndrome 'Bartsocas-Papas syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome' 'Bartsocas-Papas syndrome' SubClassOf 'Popliteal pterygium syndrome' 'Bartsocas-Papas syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Bartsocas-Papas syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043009 'Bartsocas-Papas syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 'Bartsocas-Papas syndrome' SubClassOf 'Popliteal pterygium syndrome' 'Bartsocas-Papas syndrome' SubClassOf 'Ectodermal dysplasia syndrome' http://www.orpha.net/ORDO/Orphanet_2564 Tetramelic monodactyly 'Tetramelic monodactyly' SubClassOf 'Genetic syndrome with limb reduction defects' 'Tetramelic monodactyly' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' 'Tetramelic monodactyly' SubClassOf 'Genetic syndrome with limb reduction defects' http://purl.obolibrary.org/obo/EO_0007049 soil environment 'soil environment' SubClassOf 'abiotic plant treatment' 'soil environment' SubClassOf 'abiotic plant treatment' http://www.orpha.net/ORDO/Orphanet_2574 Moynahan syndrome 'Moynahan syndrome' SubClassOf 'Epilepsy syndrome' 'Moynahan syndrome' SubClassOf 'Genetic hyperpigmentation of the skin' 'Moynahan syndrome' SubClassOf 'Epilepsy syndrome' 'Moynahan syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Moynahan syndrome' SubClassOf 'Genetic hyperpigmentation of the skin' 'Moynahan syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 http://www.orpha.net/ORDO/Orphanet_1243 Best vitelliform macular dystrophy 'Best vitelliform macular dystrophy' SubClassOf 'Genetic macular dystrophy' 'Best vitelliform macular dystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000390 http://www.orpha.net/ORDO/Orphanet_2573 Moyamoya disease 'Moyamoya disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018791 'Moyamoya disease' SubClassOf 'cerebral arterial disease' http://www.orpha.net/ORDO/Orphanet_1240 Metaphyseal acroscyphodysplasia 'Metaphyseal acroscyphodysplasia' SubClassOf 'Multiple metaphyseal dysplasia' 'Metaphyseal acroscyphodysplasia' SubClassOf 'Multiple metaphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_2572 Spastic ataxia - corneal dystrophy 'Spastic ataxia - corneal dystrophy' SubClassOf 'Syndromic corneal dystrophy' 'Spastic ataxia - corneal dystrophy' SubClassOf 'Autosomal recessive spastic ataxia' 'Spastic ataxia - corneal dystrophy' SubClassOf 'Syndromic corneal dystrophy' 'Spastic ataxia - corneal dystrophy' SubClassOf 'Autosomal recessive spastic ataxia' http://www.orpha.net/ORDO/Orphanet_1241 Bencze syndrome 'Bencze syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Bencze syndrome' SubClassOf 'Orofacial clefting syndrome' 'Bencze syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Bencze syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Bencze syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 'Bencze syndrome' SubClassOf 'Orofacial clefting syndrome' http://www.orpha.net/ORDO/Orphanet_2571 X-linked immunoneurologic disorder 'X-linked immunoneurologic disorder' SubClassOf 'Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells' 'X-linked immunoneurologic disorder' SubClassOf 'Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells' http://purl.obolibrary.org/obo/CHEBI_19065 1-methylinosine '1-methylinosine' SubClassOf 'chemical entity' '1-methylinosine' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_1248 Maxillonasal dysplasia 'Maxillonasal dysplasia' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Maxillonasal dysplasia' SubClassOf 'Syndrome or malformation associated with head and neck malformations' 'Maxillonasal dysplasia' SubClassOf 'Syndromic genetic deafness' 'Maxillonasal dysplasia' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Maxillonasal dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 'Maxillonasal dysplasia' SubClassOf 'Syndrome or malformation associated with head and neck malformations' 'Maxillonasal dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002232 'Maxillonasal dysplasia' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_2579 Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus 'Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus' SubClassOf 'Syndromic retinitis pigmentosa' 'Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0022687 'Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus' SubClassOf 'hereditary ataxia' 'Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus' SubClassOf 'Syndromic retinitis pigmentosa' 'Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004884 http://www.orpha.net/ORDO/Orphanet_1246 Brachydactyly - nystagmus - cerebellar ataxia 'Brachydactyly - nystagmus - cerebellar ataxia' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Brachydactyly - nystagmus - cerebellar ataxia' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Brachydactyly - nystagmus - cerebellar ataxia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 http://www.orpha.net/ORDO/Orphanet_2578 MURCS association 'MURCS association' SubClassOf 'Syndromic anorectal malformation' 'MURCS association' SubClassOf 'Mayer-Rokitansky-Küster-Hauser syndrome' 'MURCS association' SubClassOf 'Syndromic anorectal malformation' 'MURCS association' SubClassOf 'Mayer-Rokitansky-Küster-Hauser syndrome' 'MURCS association' SubClassOf 'disease has feature' some http://purl.obolibrary.org/obo/MONDO_0001029 http://www.orpha.net/ORDO/Orphanet_2576 MULIBREY nanism 'MULIBREY nanism' SubClassOf 'Genetic malformation syndrome with short stature' 'MULIBREY nanism' SubClassOf 'autosomal recessive disease' 'MULIBREY nanism' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'MULIBREY nanism' SubClassOf 'Genetic malformation syndrome with short stature' 'MULIBREY nanism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 http://www.orpha.net/ORDO/Orphanet_35701 3-hydroxy-3-methylglutaryl-CoA synthase deficiency '3-hydroxy-3-methylglutaryl-CoA synthase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017713 http://www.orpha.net/ORDO/Orphanet_2575 Cystic fibrosis - gastritis - megaloblastic anemia 'Cystic fibrosis - gastritis - megaloblastic anemia' SubClassOf 'Genetic gastro-esophageal disease' 'Cystic fibrosis - gastritis - megaloblastic anemia' SubClassOf 'Genetic gastro-esophageal disease' http://www.orpha.net/ORDO/Orphanet_94083 Partington syndrome 'Partington syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Partington syndrome' SubClassOf 'ARX-related epileptic encephalopathy' 'Partington syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Partington syndrome' SubClassOf 'X-linked reticulate pigmentary disorder with systemic manifestations' 'Partington syndrome' SubClassOf 'ARX-related epileptic encephalopathy' http://www.orpha.net/ORDO/Orphanet_94089 Pseudohypoparathyroidism type 1B 'Pseudohypoparathyroidism type 1B' SubClassOf 'Pseudohypoparathyroidism' 'Pseudohypoparathyroidism type 1B' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018700 http://www.orpha.net/ORDO/Orphanet_94088 Hereditary renal hypouricemia 'Hereditary renal hypouricemia' SubClassOf 'Genetic renal tubular disease' 'Hereditary renal hypouricemia' SubClassOf 'Genetic renal tubular disease' 'Hereditary renal hypouricemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019744 http://www.orpha.net/ORDO/Orphanet_94086 Blue diaper syndrome 'Blue diaper syndrome' SubClassOf 'Disorder of amino acid absorption and transport' 'Blue diaper syndrome' SubClassOf 'Disorder of amino acid absorption and transport' http://www.orpha.net/ORDO/Orphanet_1253 Ascher syndrome 'Ascher syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Ascher syndrome' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Ascher syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Ascher syndrome' SubClassOf 'Malformation syndrome with skin/mucosae involvement' http://www.orpha.net/ORDO/Orphanet_2585 Ataxia - pancytopenia 'Ataxia - pancytopenia' SubClassOf 'Rare genetic neurological disorder' 'Ataxia - pancytopenia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015141 http://www.orpha.net/ORDO/Orphanet_1252 Blepharonasofacial malformation syndrome 'Blepharonasofacial malformation syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Blepharonasofacial malformation syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Blepharonasofacial malformation syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Blepharonasofacial malformation syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Blepharonasofacial malformation syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015503 'Blepharonasofacial malformation syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018562 http://www.orpha.net/ORDO/Orphanet_2580 Shoulder and girdle defects - familial intellectual disability 'Shoulder and girdle defects - familial intellectual disability' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Shoulder and girdle defects - familial intellectual disability' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://www.orpha.net/ORDO/Orphanet_1259 Blepharoptosis - myopia - ectopia lentis 'Blepharoptosis - myopia - ectopia lentis' SubClassOf 'Lens position anomaly' 'Blepharoptosis - myopia - ectopia lentis' SubClassOf 'Lens position anomaly' 'Blepharoptosis - myopia - ectopia lentis' SubClassOf 'Isolated ectopia lentis' http://purl.obolibrary.org/obo/CLO_0013127 GM17295 'GM17295' SubClassOf 'cultured cell' 'GM17295' SubClassOf 'has_quality' some 'male' 'GM17295' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://www.orpha.net/ORDO/Orphanet_2589 Myoclonus - cerebellar ataxia - deafness 'Myoclonus - cerebellar ataxia - deafness' SubClassOf 'Syndromic genetic deafness' 'Myoclonus - cerebellar ataxia - deafness' SubClassOf 'Syndromic genetic deafness' 'Myoclonus - cerebellar ataxia - deafness' SubClassOf 'hereditary ataxia' http://www.orpha.net/ORDO/Orphanet_1258 Blepharoptosis - cleft palate - ectrodactyly - dental anomalies 'Blepharoptosis - cleft palate - ectrodactyly - dental anomalies' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Blepharoptosis - cleft palate - ectrodactyly - dental anomalies' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' http://www.orpha.net/ORDO/Orphanet_2588 Myhre syndrome 'Myhre syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Myhre syndrome' SubClassOf 'Acromelic dysplasia' 'Myhre syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Myhre syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 'Myhre syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Myhre syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 http://purl.obolibrary.org/obo/CLO_0013124 GM17296 'GM17296' SubClassOf 'has_quality' some 'female' 'GM17296' SubClassOf 'cultured cell' 'GM17296' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://www.orpha.net/ORDO/Orphanet_2587 Myeloperoxidase deficiency 'Myeloperoxidase deficiency' SubClassOf 'Functional neutrophil defect' 'Myeloperoxidase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024626 'Myeloperoxidase deficiency' SubClassOf 'Functional neutrophil defect' http://www.orpha.net/ORDO/Orphanet_1256 Blepharophimosis - radioulnar synostosis 'Blepharophimosis - radioulnar synostosis' SubClassOf 'Syndrome with synostosis or other joint formation defect' 'Blepharophimosis - radioulnar synostosis' SubClassOf 'Syndromic developmental defect of the eye' 'Blepharophimosis - radioulnar synostosis' SubClassOf 'Syndrome with synostosis or other joint formation defect' 'Blepharophimosis - radioulnar synostosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020169 'Blepharophimosis - radioulnar synostosis' SubClassOf 'Syndromic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_94090 Pseudohypoparathyroidism type 2 'Pseudohypoparathyroidism type 2' SubClassOf 'Pseudohypoparathyroidism' 'Pseudohypoparathyroidism type 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018700 http://purl.obolibrary.org/obo/CHEBI_21363 methionine sulfone 'methionine sulfone' SubClassOf 'amino acid' 'methionine sulfone' SubClassOf 'amino acid' http://www.orpha.net/ORDO/Orphanet_94095 Spondylocostal dysostosis - anal and genitourinary malformations 'Spondylocostal dysostosis - anal and genitourinary malformations' SubClassOf 'Syndromic anorectal malformation' 'Spondylocostal dysostosis - anal and genitourinary malformations' SubClassOf 'Syndromic urogenital tract malformation' 'Spondylocostal dysostosis - anal and genitourinary malformations' SubClassOf 'Dysostosis with predominant vertebral and costal involvement' 'Spondylocostal dysostosis - anal and genitourinary malformations' SubClassOf 'Syndromic anorectal malformation' 'Spondylocostal dysostosis - anal and genitourinary malformations' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015846 'Spondylocostal dysostosis - anal and genitourinary malformations' SubClassOf 'Syndromic urogenital tract malformation' 'Spondylocostal dysostosis - anal and genitourinary malformations' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Spondylocostal dysostosis - anal and genitourinary malformations' SubClassOf 'Dysostosis with predominant vertebral and costal involvement' 'Spondylocostal dysostosis - anal and genitourinary malformations' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 http://www.orpha.net/ORDO/Orphanet_309334 Salla disease 'Salla disease' SubClassOf 'Free sialic acid storage disease' 'Salla disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044975 'Salla disease' SubClassOf 'Free sialic acid storage disease' http://www.orpha.net/ORDO/Orphanet_309331 Intermediate severe Salla disease 'Intermediate severe Salla disease' SubClassOf 'Free sialic acid storage disease' 'Intermediate severe Salla disease' SubClassOf 'Free sialic acid storage disease' http://www.orpha.net/ORDO/Orphanet_2516 Microcephaly - cardiac defect - lung malsegmentation 'Microcephaly - cardiac defect - lung malsegmentation' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Microcephaly - cardiac defect - lung malsegmentation' SubClassOf 'Rare syndrome with cardiac malformations' 'Microcephaly - cardiac defect - lung malsegmentation' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Microcephaly - cardiac defect - lung malsegmentation' SubClassOf 'Rare syndrome with cardiac malformations' http://www.orpha.net/ORDO/Orphanet_2515 Microcephaly - cardiomyopathy 'Microcephaly - cardiomyopathy' SubClassOf 'Syndrome with microcephaly as major feature' 'Microcephaly - cardiomyopathy' SubClassOf 'Syndrome associated with dilated cardiomyopathy' 'Microcephaly - cardiomyopathy' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Microcephaly - cardiomyopathy' SubClassOf 'Syndrome with microcephaly as major feature' 'Microcephaly - cardiomyopathy' SubClassOf 'Syndrome associated with dilated cardiomyopathy' 'Microcephaly - cardiomyopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Microcephaly - cardiomyopathy' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_2514 Autosomal dominant microcephaly 'Autosomal dominant microcephaly' SubClassOf 'Isolated congenital microcephaly' 'Autosomal dominant microcephaly' SubClassOf 'Isolated congenital microcephaly' 'Autosomal dominant microcephaly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007 'Autosomal dominant microcephaly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 http://www.orpha.net/ORDO/Orphanet_2513 Microcephaly - albinism - digital anomalies 'Microcephaly - albinism - digital anomalies' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Microcephaly - albinism - digital anomalies' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_2512 Autosomal recessive primary microcephaly 'Autosomal recessive primary microcephaly' SubClassOf 'Isolated congenital microcephaly' 'Autosomal recessive primary microcephaly' SubClassOf 'Nervous system anomaly with eye involvement' 'Autosomal recessive primary microcephaly' SubClassOf 'Nervous system anomaly with eye involvement' 'Autosomal recessive primary microcephaly' SubClassOf 'Isolated congenital microcephaly' http://www.orpha.net/ORDO/Orphanet_2511 Microbrachycephaly - ptosis - cleft lip 'Microbrachycephaly - ptosis - cleft lip' SubClassOf 'Orofacial clefting syndrome' 'Microbrachycephaly - ptosis - cleft lip' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Microbrachycephaly - ptosis - cleft lip' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 'Microbrachycephaly - ptosis - cleft lip' SubClassOf 'Orofacial clefting syndrome' 'Microbrachycephaly - ptosis - cleft lip' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Microbrachycephaly - ptosis - cleft lip' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Microbrachycephaly - ptosis - cleft lip' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_2510 Micro syndrome 'Micro syndrome' SubClassOf 'Other syndrome with lissencephaly as a major feature' 'Micro syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Micro syndrome' SubClassOf 'Syndromic microphthalmia' 'Micro syndrome' SubClassOf 'autosomal recessive disease' 'Micro syndrome' SubClassOf 'Other syndrome with lissencephaly as a major feature' 'Micro syndrome' SubClassOf 'Syndromic microphthalmia' 'Micro syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_2508 Micrencephaly - corpus callosum agenesis - abnormal genitalia 'Micrencephaly - corpus callosum agenesis - abnormal genitalia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016055 http://purl.obolibrary.org/obo/CHEBI_22660 aspartic acid 'aspartic acid' SubClassOf 'acid' 'aspartic acid' SubClassOf 'acid' http://www.orpha.net/ORDO/Orphanet_309337 Lysosomal glycogen storage disease 'Lysosomal glycogen storage disease' SubClassOf 'Lysosomal disease' 'Lysosomal glycogen storage disease' SubClassOf 'Lysosomal disease' http://purl.obolibrary.org/obo/CHEBI_23995 ethyl nitrosourea 'ethyl nitrosourea' SubClassOf 'has_role' some 'mutagen' http://www.orpha.net/ORDO/Orphanet_324977 Proteasome disability syndrome 'Proteasome disability syndrome' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'Proteasome disability syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017370 'Proteasome disability syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018782 http://www.orpha.net/ORDO/Orphanet_309340 Disorder of lysosomal-related organelles 'Disorder of lysosomal-related organelles' SubClassOf 'Inborn errors of metabolism' 'Disorder of lysosomal-related organelles' SubClassOf 'Inborn errors of metabolism' http://www.orpha.net/ORDO/Orphanet_308013 Focal acral hyperkeratosis 'Focal acral hyperkeratosis' SubClassOf 'Marginal papular palmoplantar keratoderma' 'Focal acral hyperkeratosis' SubClassOf 'Marginal papular palmoplantar keratoderma' http://www.orpha.net/ORDO/Orphanet_35710 Glucose-galactose malabsorption 'Glucose-galactose malabsorption' SubClassOf 'Glucose transport disorder' 'Glucose-galactose malabsorption' SubClassOf 'Congenital intestinal transport defect' 'Glucose-galactose malabsorption' SubClassOf 'Glucose transport disorder' 'Glucose-galactose malabsorption' SubClassOf 'Metabolic disease with intestinal involvement' 'Glucose-galactose malabsorption' SubClassOf 'Congenital intestinal transport defect' http://www.orpha.net/ORDO/Orphanet_2526 Microcephaly - lymphedema - chorioretinopathy 'Microcephaly - lymphedema - chorioretinopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0009332 'Microcephaly - lymphedema - chorioretinopathy' SubClassOf 'Milroy disease' http://www.orpha.net/ORDO/Orphanet_2524 Pontocerebellar hypoplasia type 2 'Pontocerebellar hypoplasia type 2' SubClassOf 'Non-syndromic pontocerebellar hypoplasia' 'Pontocerebellar hypoplasia type 2' SubClassOf 'Spinal muscular atrophy associated with central nervous system anomaly' 'Pontocerebellar hypoplasia type 2' SubClassOf 'Non-syndromic pontocerebellar hypoplasia' 'Pontocerebellar hypoplasia type 2' SubClassOf 'Spinal muscular atrophy associated with central nervous system anomaly' http://www.orpha.net/ORDO/Orphanet_2523 Microcephaly - brain defect - spasticity - hypernatremia 'Microcephaly - brain defect - spasticity - hypernatremia' SubClassOf 'Syndrome with microcephaly as major feature' 'Microcephaly - brain defect - spasticity - hypernatremia' SubClassOf 'Syndrome with microcephaly as major feature' http://www.orpha.net/ORDO/Orphanet_2522 Microcephaly - cervical spine fusion anomalies 'Microcephaly - cervical spine fusion anomalies' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Microcephaly - cervical spine fusion anomalies' SubClassOf 'Syndrome with microcephaly as major feature' 'Microcephaly - cervical spine fusion anomalies' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Microcephaly - cervical spine fusion anomalies' SubClassOf 'Syndrome with microcephaly as major feature' 'Microcephaly - cervical spine fusion anomalies' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 http://www.orpha.net/ORDO/Orphanet_2521 Microcephaly - cleft palate 'Microcephaly - cleft palate' SubClassOf 'Orofacial clefting syndrome' 'Microcephaly - cleft palate' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Microcephaly - cleft palate' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Microcephaly - cleft palate' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 'Microcephaly - cleft palate' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Microcephaly - cleft palate' SubClassOf 'Orofacial clefting syndrome' 'Microcephaly - cleft palate' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_35706 Glutaric acidemia type 3 'Glutaric acidemia type 3' SubClassOf 'Disorder of peroxisomal alpha-, beta- and omega-oxidation' 'Glutaric acidemia type 3' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000129 'Glutaric acidemia type 3' SubClassOf 'Disorder of peroxisomal alpha-, beta- and omega-oxidation' 'Glutaric acidemia type 3' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016401 http://www.orpha.net/ORDO/Orphanet_35705 Neurometabolic disorder due to serine deficiency 'Neurometabolic disorder due to serine deficiency' SubClassOf 'Disorder of serine or glycine metabolism' 'Neurometabolic disorder due to serine deficiency' SubClassOf 'Cerebral organic aciduria' 'Neurometabolic disorder due to serine deficiency' SubClassOf 'Neurometabolic disease' 'Neurometabolic disorder due to serine deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000421 http://www.orpha.net/ORDO/Orphanet_35704 Arginine:glycine amidinotransferase deficiency 'Arginine:glycine amidinotransferase deficiency' SubClassOf 'Neurometabolic disease' 'Arginine:glycine amidinotransferase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044976 'Arginine:glycine amidinotransferase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000456 'Arginine:glycine amidinotransferase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0045018 'Arginine:glycine amidinotransferase deficiency' SubClassOf 'Neurometabolic disease' http://www.orpha.net/ORDO/Orphanet_2519 Microcephaly - seizures - intellectual disability - heart disease 'Microcephaly - seizures - intellectual disability - heart disease' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Microcephaly - seizures - intellectual disability - heart disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Microcephaly - seizures - intellectual disability - heart disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Microcephaly - seizures - intellectual disability - heart disease' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_35708 Aromatic L-amino acid decarboxylase deficiency 'Aromatic L-amino acid decarboxylase deficiency' SubClassOf 'Disorder of catecholamine synthesis' 'Aromatic L-amino acid decarboxylase deficiency' SubClassOf 'Neurometabolic disease' 'Aromatic L-amino acid decarboxylase deficiency' SubClassOf 'Disorder of catecholamine synthesis' 'Aromatic L-amino acid decarboxylase deficiency' SubClassOf 'Neurometabolic disease' http://www.orpha.net/ORDO/Orphanet_309347 Disorder of protein N-glycosylation 'Disorder of protein N-glycosylation' SubClassOf 'Congenital disorder of glycosylation' 'Disorder of protein N-glycosylation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0045010 'Disorder of protein N-glycosylation' SubClassOf 'realized_in' some ('disease course' and ('has part' some 'glycosylation')) 'Disorder of protein N-glycosylation' SubClassOf 'Congenital disorder of glycosylation' http://purl.obolibrary.org/obo/CHEBI_23965 estradiol 'estradiol' SubClassOf 'has_role' some 'hormone role' http://www.orpha.net/ORDO/Orphanet_166011 Multiple epiphyseal dysplasia, Beighton type 'Multiple epiphyseal dysplasia, Beighton type' SubClassOf 'Type 2 collagen-related bone disorder' 'Multiple epiphyseal dysplasia, Beighton type' SubClassOf 'Multiple epiphyseal dysplasia' 'Multiple epiphyseal dysplasia, Beighton type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0022800 'Multiple epiphyseal dysplasia, Beighton type' SubClassOf 'Type 2 collagen-related bone disorder' 'Multiple epiphyseal dysplasia, Beighton type' SubClassOf 'Multiple epiphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_309310 Mucopolysaccharidosis type 4B 'Mucopolysaccharidosis type 4B' SubClassOf 'Mucopolysaccharidosis type 4' 'Mucopolysaccharidosis type 4B' SubClassOf 'Mucopolysaccharidosis type 4' 'Mucopolysaccharidosis type 4B' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044976 http://www.orpha.net/ORDO/Orphanet_2536 Microcornea - glaucoma - absent frontal sinuses 'Microcornea - glaucoma - absent frontal sinuses' SubClassOf 'Syndromic developmental defect of the eye' 'Microcornea - glaucoma - absent frontal sinuses' SubClassOf 'Syndromic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_2535 Microcornea - corectopia - macular hypoplasia 'Microcornea - corectopia - macular hypoplasia' SubClassOf 'Syndromic developmental defect of the eye' 'Microcornea - corectopia - macular hypoplasia' SubClassOf 'Syndromic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_1202 Larynx atresia 'Larynx atresia' SubClassOf 'Larynx anomaly' 'Larynx atresia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018562 'Larynx atresia' SubClassOf 'Larynx anomaly' http://www.orpha.net/ORDO/Orphanet_1203 Duodenal atresia 'Duodenal atresia' SubClassOf 'Non-syndromic gastroduodenal malformation' 'Duodenal atresia' SubClassOf 'Non-syndromic gastroduodenal malformation' 'Duodenal atresia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001045 'Duodenal atresia' SubClassOf 'Non-syndromic intestinal malformation' http://www.orpha.net/ORDO/Orphanet_2533 Microcephaly - deafness - intellectual disability 'Microcephaly - deafness - intellectual disability' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Microcephaly - deafness - intellectual disability' SubClassOf 'Syndromic genetic deafness' 'Microcephaly - deafness - intellectual disability' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Microcephaly - deafness - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Microcephaly - deafness - intellectual disability' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_1200 Choanal atresia-deafness-cardiac defects-dysmorphism syndrome 'Choanal atresia-deafness-cardiac defects-dysmorphism syndrome' SubClassOf 'Syndromic genetic deafness' 'Choanal atresia-deafness-cardiac defects-dysmorphism syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Choanal atresia-deafness-cardiac defects-dysmorphism syndrome' SubClassOf 'Syndromic genetic deafness' 'Choanal atresia-deafness-cardiac defects-dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015503 'Choanal atresia-deafness-cardiac defects-dysmorphism syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Choanal atresia-deafness-cardiac defects-dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018562 http://www.orpha.net/ORDO/Orphanet_166016 Multiple epiphyseal dysplasia, Lowry type 'Multiple epiphyseal dysplasia, Lowry type' SubClassOf 'Multiple epiphyseal dysplasia' 'Multiple epiphyseal dysplasia, Lowry type' SubClassOf 'Multiple epiphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_1201 Atresia of small intestine 'Atresia of small intestine' SubClassOf 'Non-syndromic intestinal malformation' 'Atresia of small intestine' SubClassOf 'Primary short bowel syndrome' 'Atresia of small intestine' SubClassOf 'Non-syndromic intestinal malformation' 'Atresia of small intestine' SubClassOf 'Primary short bowel syndrome' http://www.orpha.net/ORDO/Orphanet_35737 Morning glory syndrome 'Morning glory syndrome' SubClassOf 'Optic neuropathy' 'Morning glory syndrome' SubClassOf 'Rare eye disease due to a differentiation anomaly' 'Morning glory syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0007354 'Morning glory syndrome' SubClassOf 'Optic neuropathy' 'Morning glory syndrome' SubClassOf 'Rare eye disease due to a differentiation anomaly' http://www.orpha.net/ORDO/Orphanet_2528 Microcephaly-microcornea syndrome, Seemanova type 'Microcephaly-microcornea syndrome, Seemanova type' SubClassOf 'Genetic developmental defect of the eye' 'Microcephaly-microcornea syndrome, Seemanova type' SubClassOf 'Syndrome with microcephaly as major feature' 'Microcephaly-microcornea syndrome, Seemanova type' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Microcephaly-microcornea syndrome, Seemanova type' SubClassOf 'Syndromic developmental defect of the eye' 'Microcephaly-microcornea syndrome, Seemanova type' SubClassOf 'Syndrome with microcephaly as major feature' 'Microcephaly-microcornea syndrome, Seemanova type' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Microcephaly-microcornea syndrome, Seemanova type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 http://www.orpha.net/ORDO/Orphanet_216729 Congenitally uncorrected transposition of the great arteries with cardiac malformation 'Congenitally uncorrected transposition of the great arteries with cardiac malformation' SubClassOf 'Congenitally uncorrected transposition of the great arteries' 'Congenitally uncorrected transposition of the great arteries with cardiac malformation' SubClassOf 'Congenitally uncorrected transposition of the great arteries' http://www.orpha.net/ORDO/Orphanet_309319 Disorder of sialic acid metabolism 'Disorder of sialic acid metabolism' SubClassOf 'Lysosomal disease' 'Disorder of sialic acid metabolism' SubClassOf 'Lysosomal disease' http://www.orpha.net/ORDO/Orphanet_1217 Spinal atrophy - ophthalmoplegia - pyramidal syndrome 'Spinal atrophy - ophthalmoplegia - pyramidal syndrome' SubClassOf 'Generalized bulbospinal muscular atrophy' 'Spinal atrophy - ophthalmoplegia - pyramidal syndrome' SubClassOf 'Generalized bulbospinal muscular atrophy' http://www.orpha.net/ORDO/Orphanet_2549 Oculoauriculovertebral spectrum with radial defects 'Oculoauriculovertebral spectrum with radial defects' SubClassOf 'Dysostosis with predominant craniofacial involvement' 'Oculoauriculovertebral spectrum with radial defects' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Oculoauriculovertebral spectrum with radial defects' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Oculoauriculovertebral spectrum with radial defects' SubClassOf 'Dysostosis with predominant craniofacial involvement' 'Oculoauriculovertebral spectrum with radial defects' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Oculoauriculovertebral spectrum with radial defects' SubClassOf 'Genetic branchial arch or oral-acral syndrome' http://www.orpha.net/ORDO/Orphanet_1215 Autosomal dominant optic atrophy plus syndrome 'Autosomal dominant optic atrophy plus syndrome' SubClassOf 'Autosomal dominant optic atrophy' 'Autosomal dominant optic atrophy plus syndrome' SubClassOf 'Autosomal dominant hereditary axonal motor and sensory neuropathy' 'Autosomal dominant optic atrophy plus syndrome' SubClassOf 'Multiple mitochondrial DNA deletion syndrome' 'Autosomal dominant optic atrophy plus syndrome' SubClassOf 'Autosomal dominant optic atrophy' 'Autosomal dominant optic atrophy plus syndrome' SubClassOf 'Autosomal dominant hereditary axonal motor and sensory neuropathy' 'Autosomal dominant optic atrophy plus syndrome' SubClassOf 'Multiple mitochondrial DNA deletion syndrome' 'Autosomal dominant optic atrophy plus syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 http://www.orpha.net/ORDO/Orphanet_1216 Autosomal dominant congenital benign spinal muscular atrophy 'Autosomal dominant congenital benign spinal muscular atrophy' SubClassOf 'Autosomal dominant distal hereditary motor neuropathy' 'Autosomal dominant congenital benign spinal muscular atrophy' SubClassOf 'spinal muscular atrophy' 'Autosomal dominant congenital benign spinal muscular atrophy' SubClassOf 'Autosomal dominant distal hereditary motor neuropathy' http://www.orpha.net/ORDO/Orphanet_166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly 'Multiple epiphyseal dysplasia due to collagen 9 anomaly' SubClassOf 'Multiple epiphyseal dysplasia' 'Multiple epiphyseal dysplasia due to collagen 9 anomaly' SubClassOf 'Multiple epiphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_2543 Microphthalmia - cataract 'Microphthalmia - cataract' SubClassOf 'Syndromic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_2542 Isolated anophthalmia - microphthalmia 'Isolated anophthalmia - microphthalmia' SubClassOf 'Non-syndromic developmental defect of the eye' 'Isolated anophthalmia - microphthalmia' SubClassOf 'Non-syndromic developmental defect of the eye' 'Isolated anophthalmia - microphthalmia' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0020147 and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021128) 'Isolated anophthalmia - microphthalmia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020147 http://purl.obolibrary.org/obo/CHEBI_34631 chlorpyrifos 'chlorpyrifos' SubClassOf ('has_role' some 'agrochemical role') and ('has_role' some 'cholinesterase inhibitor') and ('has_role' some 'acetylcholinesterase inhibitor') http://www.orpha.net/ORDO/Orphanet_309324 Free sialic acid storage disease, infantile form 'Free sialic acid storage disease, infantile form' SubClassOf 'Free sialic acid storage disease' 'Free sialic acid storage disease, infantile form' SubClassOf 'Lysosomal storage disease with skeletal involvement' 'Free sialic acid storage disease, infantile form' SubClassOf 'Free sialic acid storage disease' http://purl.obolibrary.org/obo/CHEBI_22653 asparagine 'asparagine' SubClassOf 'amino acid' 'asparagine' SubClassOf 'amino acid' http://www.orpha.net/ORDO/Orphanet_216718 Isolated congenitally uncorrected transposition of the great arteries 'Isolated congenitally uncorrected transposition of the great arteries' SubClassOf 'Congenitally uncorrected transposition of the great arteries' 'Isolated congenitally uncorrected transposition of the great arteries' SubClassOf 'Congenitally uncorrected transposition of the great arteries' http://www.orpha.net/ORDO/Orphanet_156629 Genetic hypertension 'Genetic hypertension' SubClassOf 'hypertension' 'Genetic hypertension' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019748 'Genetic hypertension' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003847 'Genetic hypertension' EquivalentTo 'hypertension' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) http://www.orpha.net/ORDO/Orphanet_168615 Hereditary persistence of alpha-fetoprotein 'Hereditary persistence of alpha-fetoprotein' SubClassOf 'has_disease_location' some 'blood plasma' 'Hereditary persistence of alpha-fetoprotein' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018652 'Hereditary persistence of alpha-fetoprotein' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003847 http://www.orpha.net/ORDO/Orphanet_168612 Congenital deficiency in alpha-fetoprotein 'Congenital deficiency in alpha-fetoprotein' SubClassOf 'has_disease_location' some 'blood plasma' 'Congenital deficiency in alpha-fetoprotein' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003847 'Congenital deficiency in alpha-fetoprotein' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018652 http://www.orpha.net/ORDO/Orphanet_168609 Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure 'Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure' SubClassOf 'Postlingual non-syndromic genetic deafness' 'Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' 'Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure' SubClassOf 'Postlingual non-syndromic genetic deafness' 'Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' http://www.orpha.net/ORDO/Orphanet_168606 Seborrhea-like dermatitis with psoriasiform elements 'Seborrhea-like dermatitis with psoriasiform elements' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019274 http://www.orpha.net/ORDO/Orphanet_157965 Ehlers-Danlos syndrome, spondylocheirodysplastic type 'Ehlers-Danlos syndrome, spondylocheirodysplastic type' SubClassOf 'Ehlers-Danlos syndrome' 'Ehlers-Danlos syndrome, spondylocheirodysplastic type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Ehlers-Danlos syndrome, spondylocheirodysplastic type' SubClassOf 'Ehlers-Danlos syndrome' 'Ehlers-Danlos syndrome, spondylocheirodysplastic type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 'Ehlers-Danlos syndrome, spondylocheirodysplastic type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_157962 Oculoauricular syndrome, Schorderet type 'Oculoauricular syndrome, Schorderet type' SubClassOf 'Major induction processes eye anomaly' 'Oculoauricular syndrome, Schorderet type' SubClassOf 'Syndromic microphthalmia' http://www.orpha.net/ORDO/Orphanet_156619 Rare genetic urogenital disease 'Rare genetic urogenital disease' SubClassOf 'has_disease_location' some ('genitourinary system' or ('part_of' some 'genitourinary system')) http://www.orpha.net/ORDO/Orphanet_157949 Combined immunodeficiency with skin granulomas 'Combined immunodeficiency with skin granulomas' SubClassOf 'Combined T and B cell immunodeficiency' 'Combined immunodeficiency with skin granulomas' SubClassOf 'Genetic immune deficiency with skin involvement' 'Combined immunodeficiency with skin granulomas' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 'Combined immunodeficiency with skin granulomas' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018814 'Combined immunodeficiency with skin granulomas' SubClassOf 'Genetic immune deficiency with skin involvement' http://purl.obolibrary.org/obo/CHEBI_11951 4-acetamidobutanoate '4-acetamidobutanoate' SubClassOf 'chemical entity' '4-acetamidobutanoate' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_168601 Congenital enteropathy due to enteropeptidase deficiency 'Congenital enteropathy due to enteropeptidase deficiency' SubClassOf 'Congenital intestinal disease due to an enzymatic defect' 'Congenital enteropathy due to enteropeptidase deficiency' SubClassOf 'Congenital intestinal disease due to an enzymatic defect' http://purl.obolibrary.org/obo/HP_0004299 Hernia of the abdominal wall 'Hernia of the abdominal wall' SubClassOf 'Hernia' 'Hernia of the abdominal wall' SubClassOf 'Hernia' http://www.orpha.net/ORDO/Orphanet_324924 Hereditary periodic fever syndrome 'Hereditary periodic fever syndrome' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'Hereditary periodic fever syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 'Hereditary periodic fever syndrome' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0015137 and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) 'Hereditary periodic fever syndrome' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'Hereditary periodic fever syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015137 http://www.orpha.net/ORDO/Orphanet_157954 ANE syndrome 'ANE syndrome' SubClassOf 'Rare disorder with hypogonadotropic hypogonadism' 'ANE syndrome' SubClassOf 'Disease associated with non-acquired combined pituitary hormone deficiency' 'ANE syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021034 'ANE syndrome' SubClassOf 'Rare disorder with hypogonadotropic hypogonadism' 'ANE syndrome' SubClassOf 'Disease associated with non-acquired combined pituitary hormone deficiency' 'ANE syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 http://www.orpha.net/ORDO/Orphanet_156622 Genetic urogenital tract malformation 'Genetic urogenital tract malformation' SubClassOf 'has_disease_location' some ('genitourinary system' or ('part_of' some 'genitourinary system')) 'Genetic urogenital tract malformation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019755 'Genetic urogenital tract malformation' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://www.orpha.net/ORDO/Orphanet_168632 Generalized basaloid follicular hamartoma syndrome 'Generalized basaloid follicular hamartoma syndrome' SubClassOf 'Genetic skin tumor' 'Generalized basaloid follicular hamartoma syndrome' SubClassOf 'Genetic skin tumor' http://purl.obolibrary.org/obo/CHEBI_35907 glutarate(1-) 'glutarate(1-)' SubClassOf 'chemical entity' 'glutarate(1-)' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_168629 Autosomal thrombocytopenia with normal platelets 'Autosomal thrombocytopenia with normal platelets' SubClassOf 'Hereditary thrombocytopenia with normal platelets' 'Autosomal thrombocytopenia with normal platelets' SubClassOf 'Hereditary thrombocytopenia with normal platelets' http://purl.obolibrary.org/obo/CHEBI_22605 arabitol 'arabitol' SubClassOf 'carbohydrate' 'arabitol' SubClassOf 'carbohydrate' http://www.orpha.net/ORDO/Orphanet_33110 Autosomal agammaglobulinemia 'Autosomal agammaglobulinemia' SubClassOf 'Isolated agammaglobulinemia' 'Autosomal agammaglobulinemia' SubClassOf 'Isolated agammaglobulinemia' http://www.orpha.net/ORDO/Orphanet_156638 Rare genetic endocrine disease 'Rare genetic endocrine disease' SubClassOf 'has_disease_location' some 'endocrine system' http://www.orpha.net/ORDO/Orphanet_2505 Multiple benign circumferential skin creases on limbs 'Multiple benign circumferential skin creases on limbs' SubClassOf 'Unclassified genetic skin disorder' 'Multiple benign circumferential skin creases on limbs' SubClassOf 'Unclassified genetic skin disorder' http://www.orpha.net/ORDO/Orphanet_2504 Metaphyseal dysplasia - maxillary hypoplasia - brachydacty 'Metaphyseal dysplasia - maxillary hypoplasia - brachydacty' SubClassOf 'Multiple metaphyseal dysplasia' 'Metaphyseal dysplasia - maxillary hypoplasia - brachydacty' SubClassOf 'Multiple metaphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_168624 Familial scaphocephaly syndrome, McGillivray type 'Familial scaphocephaly syndrome, McGillivray type' SubClassOf 'Syndromic craniosynostosis' 'Familial scaphocephaly syndrome, McGillivray type' SubClassOf 'Familial scaphocephaly syndrome' http://www.orpha.net/ORDO/Orphanet_2502 Metaphyseal dysostosis - intellectual disability - conductive deafness 'Metaphyseal dysostosis - intellectual disability - conductive deafness' SubClassOf 'Syndromic genetic deafness' 'Metaphyseal dysostosis - intellectual disability - conductive deafness' SubClassOf 'Multiple metaphyseal dysplasia' 'Metaphyseal dysostosis - intellectual disability - conductive deafness' SubClassOf 'Syndromic genetic deafness' 'Metaphyseal dysostosis - intellectual disability - conductive deafness' SubClassOf 'Multiple metaphyseal dysplasia' 'Metaphyseal dysostosis - intellectual disability - conductive deafness' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Metaphyseal dysostosis - intellectual disability - conductive deafness' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 http://www.orpha.net/ORDO/Orphanet_2501 Metaphyseal chondrodysplasia, Spahr type 'Metaphyseal chondrodysplasia, Spahr type' SubClassOf 'Multiple metaphyseal dysplasia' 'Metaphyseal chondrodysplasia, Spahr type' SubClassOf 'Multiple metaphyseal dysplasia' 'Metaphyseal chondrodysplasia, Spahr type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000138 http://www.orpha.net/ORDO/Orphanet_2500 Acrogeria 'Acrogeria' SubClassOf 'Premature aging' 'Acrogeria' SubClassOf 'Premature aging' http://www.orpha.net/ORDO/Orphanet_168621 Dysplasia of head of femur, Meyer type 'Dysplasia of head of femur, Meyer type' SubClassOf 'Multiple epiphyseal dysplasia and pseudoachondroplasia' 'Dysplasia of head of femur, Meyer type' SubClassOf 'Multiple epiphyseal dysplasia and pseudoachondroplasia' http://www.orpha.net/ORDO/Orphanet_33108 Lethal multiple pterygium syndrome 'Lethal multiple pterygium syndrome' SubClassOf 'Multiple pterygium syndrome' 'Lethal multiple pterygium syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Lethal multiple pterygium syndrome' SubClassOf 'Multiple pterygium syndrome' 'Lethal multiple pterygium syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 'Lethal multiple pterygium syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_157973 Congenital muscular dystrophy due to LMNA mutation 'Congenital muscular dystrophy due to LMNA mutation' SubClassOf 'Congenital muscular dystrophy' 'Congenital muscular dystrophy due to LMNA mutation' SubClassOf 'Congenital muscular dystrophy' http://www.ebi.ac.uk/efo/EFO_1001314 pseudomembranous enterocolitis 'pseudomembranous enterocolitis' SubClassOf 'enterocolitis' 'pseudomembranous enterocolitis' SubClassOf 'enterocolitis' 'pseudomembranous enterocolitis' SubClassOf 'participates_in' some 'inflammatory response' http://www.ebi.ac.uk/efo/EFO_1001313 Enterobacteriaceae Infections 'Enterobacteriaceae Infections' SubClassOf 'bacterial disease' 'Enterobacteriaceae Infections' SubClassOf 'bacterial disease' http://www.ebi.ac.uk/efo/EFO_1001312 Endometritis 'Endometritis' SubClassOf 'female reproductive system disease' 'Endometritis' SubClassOf 'reproductive system disease' 'Endometritis' SubClassOf 'has_disease_location' some ('endometrium' or ('part_of' some 'endometrium')) 'Endometritis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000931 'Endometritis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021166 'Endometritis' SubClassOf 'participates_in' some 'inflammatory response' http://www.ebi.ac.uk/efo/EFO_1001311 End Stage Liver Disease 'End Stage Liver Disease' SubClassOf 'liver disease' 'End Stage Liver Disease' SubClassOf 'liver disease' 'End Stage Liver Disease' SubClassOf 'has_disease_location' some ('liver' or ('part_of' some 'liver')) http://www.ebi.ac.uk/efo/EFO_1001310 Encephalitis, Varicella Zoster 'Encephalitis, Varicella Zoster' SubClassOf 'encephalomyelitis' 'Encephalitis, Varicella Zoster' SubClassOf 'encephalomyelitis' http://purl.obolibrary.org/obo/CHEBI_34911 permethrin 'permethrin' SubClassOf 'has_role' some 'insecticide' http://www.orpha.net/ORDO/Orphanet_324575 Hyperinsulinism due to HNF1A deficiency 'Hyperinsulinism due to HNF1A deficiency' SubClassOf 'Diazoxide-sensitive diffuse hyperinsulinism' 'Hyperinsulinism due to HNF1A deficiency' SubClassOf 'Diazoxide-sensitive diffuse hyperinsulinism' http://www.orpha.net/ORDO/Orphanet_83639 Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency 'Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency' SubClassOf 'Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' 'Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency' SubClassOf 'Rare thrombotic disorder due to a constitutional coagulation factors defect' 'Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' 'Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043218 'Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency' SubClassOf 'Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' 'Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency' SubClassOf 'Rare thrombotic disorder due to a constitutional coagulation factors defect' 'Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' http://www.ebi.ac.uk/efo/EFO_0001902 obsolete_articular cartilage 'obsolete_articular cartilage' SubClassOf 'obsolete class' 'obsolete_articular cartilage' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001319 Euglenozoa Infections 'Euglenozoa Infections' SubClassOf 'parasitic infection' 'Euglenozoa Infections' SubClassOf 'parasitic infection' http://www.ebi.ac.uk/efo/EFO_0001904 obsolete_basal plate 'obsolete_basal plate' SubClassOf 'obsolete class' 'obsolete_basal plate' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001318 Escherichia coli Infections 'Escherichia coli Infections' SubClassOf 'bacterial disease' 'Escherichia coli Infections' SubClassOf 'bacterial disease' http://www.ebi.ac.uk/efo/EFO_1001317 Epiphyses, Slipped 'Epiphyses, Slipped' SubClassOf 'bone disease' 'Epiphyses, Slipped' SubClassOf 'has_disease_location' some ('hip' or ('part_of' some 'hip')) 'Epiphyses, Slipped' SubClassOf 'bone disease' http://www.ebi.ac.uk/efo/EFO_0001906 obsolete_capillary 'obsolete_capillary' SubClassOf 'obsolete class' 'obsolete_capillary' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001316 Eosinophilia-Myalgia Syndrome 'Eosinophilia-Myalgia Syndrome' SubClassOf 'autoimmune disease' 'Eosinophilia-Myalgia Syndrome' SubClassOf 'autoimmune disease' 'Eosinophilia-Myalgia Syndrome' SubClassOf 'Hypereosinophilic syndrome' http://www.ebi.ac.uk/efo/EFO_0001905 obsolete_blood plasma 'obsolete_blood plasma' SubClassOf 'obsolete class' 'obsolete_blood plasma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001315 Enzootic Bovine Leukosis 'Enzootic Bovine Leukosis' SubClassOf 'animal disease' 'Enzootic Bovine Leukosis' SubClassOf 'animal disease' http://www.ebi.ac.uk/efo/EFO_0001907 dorsal skin 'dorsal skin' SubClassOf 'has_quality' some 'dorsal' http://www.ebi.ac.uk/efo/EFO_0001909 obsolete_caudal fin 'obsolete_caudal fin' SubClassOf 'obsolete class' 'obsolete_caudal fin' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/UBERON_0004851 aorta endothelium 'aorta endothelium' SubClassOf 'endothelium' 'aorta endothelium' EquivalentTo 'endothelium' and ('part_of' some 'aorta') 'aorta endothelium' SubClassOf http://purl.obolibrary.org/obo/UBERON_0004638 'aorta endothelium' SubClassOf 'part_of' some 'aorta' 'aorta endothelium' SubClassOf http://purl.obolibrary.org/obo/UBERON_0004700 http://www.ebi.ac.uk/efo/EFO_1001325 abdominal fibromatosis 'abdominal fibromatosis' SubClassOf 'fibroma' 'abdominal fibromatosis' SubClassOf 'fibroma' http://www.orpha.net/ORDO/Orphanet_2802 X-linked sideroblastic anemia with ataxia 'X-linked sideroblastic anemia with ataxia' SubClassOf 'Unspecified mitochondrial disorder' 'X-linked sideroblastic anemia with ataxia' SubClassOf 'Constitutional sideroblastic anemia' 'X-linked sideroblastic anemia with ataxia' SubClassOf 'X-linked cerebellar ataxia' 'X-linked sideroblastic anemia with ataxia' SubClassOf 'X-linked sideroblastic anemia' 'X-linked sideroblastic anemia with ataxia' SubClassOf 'Unspecified mitochondrial disorder' 'X-linked sideroblastic anemia with ataxia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000577 'X-linked sideroblastic anemia with ataxia' SubClassOf 'X-linked cerebellar ataxia' http://www.ebi.ac.uk/efo/EFO_1001324 Fascioliasis 'Fascioliasis' SubClassOf 'parasitic infection' 'Fascioliasis' SubClassOf 'Helminthiasis' 'Fascioliasis' SubClassOf 'disease has feature' some 'exanthem' 'Fascioliasis' SubClassOf 'parasitic infection' 'Fascioliasis' SubClassOf 'disease has feature' some http://purl.obolibrary.org/obo/MONDO_0002280 http://www.orpha.net/ORDO/Orphanet_2801 Juvenile Paget disease 'Juvenile Paget disease' SubClassOf 'Primary bone dysplasia with increased bone density' 'Juvenile Paget disease' SubClassOf 'osteitis deformans' 'Juvenile Paget disease' SubClassOf 'Primary bone dysplasia with increased bone density' http://www.ebi.ac.uk/efo/EFO_1001323 Eye Injuries, Penetrating 'Eye Injuries, Penetrating' SubClassOf 'eye disease' 'Eye Injuries, Penetrating' SubClassOf 'has_disease_location' some ('eye' or ('part_of' some 'eye')) 'Eye Injuries, Penetrating' SubClassOf 'eye disease' http://www.ebi.ac.uk/efo/EFO_1001322 Eye Foreign Bodies 'Eye Foreign Bodies' SubClassOf 'eye disease' 'Eye Foreign Bodies' SubClassOf 'has_disease_location' some ('eye' or ('part_of' some 'eye')) 'Eye Foreign Bodies' SubClassOf 'eye disease' http://www.ebi.ac.uk/efo/EFO_1001321 extrinsic allergic alveolitis 'extrinsic allergic alveolitis' SubClassOf 'allergy' 'extrinsic allergic alveolitis' SubClassOf 'allergy' 'extrinsic allergic alveolitis' SubClassOf 'pneumonitis' 'extrinsic allergic alveolitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000771 'extrinsic allergic alveolitis' SubClassOf 'interstitial lung disease' http://www.ebi.ac.uk/efo/EFO_1001320 Exanthema Subitum 'Exanthema Subitum' SubClassOf 'viral disease' 'Exanthema Subitum' SubClassOf 'Roseolovirus infectious disease' 'Exanthema Subitum' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024294 'Exanthema Subitum' SubClassOf 'viral disease' 'Exanthema Subitum' SubClassOf 'exanthem' http://www.orpha.net/ORDO/Orphanet_83629 Leukoencephalopathy - metaphyseal chondrodysplasia 'Leukoencephalopathy - metaphyseal chondrodysplasia' SubClassOf 'Genetic neurodegenerative disease' 'Leukoencephalopathy - metaphyseal chondrodysplasia' SubClassOf 'Genetic neurodegenerative disease' http://purl.obolibrary.org/obo/GO_0007052 mitotic spindle organization 'mitotic spindle organization' EquivalentTo 'spindle organization' and ('part_of' some 'mitotic cell cycle') 'mitotic spindle organization' SubClassOf 'part_of' some 'mitotic cell cycle' http://www.orpha.net/ORDO/Orphanet_83628 PELVIS syndrome 'PELVIS syndrome' SubClassOf 'Syndromic anorectal malformation' 'PELVIS syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'PELVIS syndrome' SubClassOf 'Unclassified genetic skin disorder' 'PELVIS syndrome' SubClassOf 'Syndromic anorectal malformation' 'PELVIS syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043218 'PELVIS syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018729 'PELVIS syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018718 'PELVIS syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'PELVIS syndrome' SubClassOf 'Unclassified genetic skin disorder' 'PELVIS syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017120 'PELVIS syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021248 'PELVIS syndrome' SubClassOf 'Genetic skin tumor' http://www.ebi.ac.uk/efo/EFO_1001329 Follicular Cyst 'Follicular Cyst' SubClassOf 'sebaceous gland disease' 'Follicular Cyst' SubClassOf 'sebaceous gland disease' http://www.ebi.ac.uk/efo/EFO_1001327 Flavobacteriaceae Infections 'Flavobacteriaceae Infections' SubClassOf 'bacterial disease' 'Flavobacteriaceae Infections' SubClassOf 'bacterial disease' http://www.ebi.ac.uk/efo/EFO_1001326 Flavivirus Infections 'Flavivirus Infections' SubClassOf 'viral disease' 'Flavivirus Infections' SubClassOf 'viral disease' http://www.orpha.net/ORDO/Orphanet_324561 Hypopigmentation-punctate palmoplantar keratoderma syndrome 'Hypopigmentation-punctate palmoplantar keratoderma syndrome' SubClassOf 'Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature' 'Hypopigmentation-punctate palmoplantar keratoderma syndrome' SubClassOf 'Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature' http://www.orpha.net/ORDO/Orphanet_83620 Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells 'Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells' SubClassOf 'Congenital enteropathy involving intestinal mucosa development' 'Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000824 'Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells' SubClassOf 'Congenital enteropathy involving intestinal mucosa development' http://purl.obolibrary.org/obo/CHEBI_46904 oxalate(1-) 'oxalate(1-)' SubClassOf 'chemical entity' 'oxalate(1-)' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/UBERON_0002203 vasculature of eye 'vasculature of eye' SubClassOf 'animal component' 'vasculature of eye' SubClassOf 'cranial vasculature' 'vasculature of eye' SubClassOf 'part_of' some 'eye' 'vasculature of eye' SubClassOf http://purl.obolibrary.org/obo/UBERON_0006876 'vasculature of eye' SubClassOf 'part_of' some 'vasculature' http://purl.obolibrary.org/obo/UBERON_0002200 cranial vasculature 'cranial vasculature' SubClassOf 'vasculature' http://www.orpha.net/ORDO/Orphanet_324569 Pontocerebellar hypoplasia type 8 'Pontocerebellar hypoplasia type 8' SubClassOf 'Non-syndromic pontocerebellar hypoplasia' 'Pontocerebellar hypoplasia type 8' SubClassOf 'Non-syndromic pontocerebellar hypoplasia' http://www.orpha.net/ORDO/Orphanet_313892 Developmental and speech delay due to SOX5 deficiency 'Developmental and speech delay due to SOX5 deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0014778 'Developmental and speech delay due to SOX5 deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 http://www.orpha.net/ORDO/Orphanet_104007 Congenital enteropathy involving intestinal mucosa development 'Congenital enteropathy involving intestinal mucosa development' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021147 'Congenital enteropathy involving intestinal mucosa development' SubClassOf 'intestinal disease' 'Congenital enteropathy involving intestinal mucosa development' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://www.orpha.net/ORDO/Orphanet_104006 Congenital intestinal disease due to an enzymatic defect 'Congenital intestinal disease due to an enzymatic defect' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Congenital intestinal disease due to an enzymatic defect' SubClassOf 'intestinal disease' 'Congenital intestinal disease due to an enzymatic defect' SubClassOf ('has component' some 'abnormal') and ('participates_in' some 'metabolic process') http://www.ebi.ac.uk/efo/EFO_1001336 Hammer Toe Syndrome 'Hammer Toe Syndrome' SubClassOf 'skeletal system disease' 'Hammer Toe Syndrome' SubClassOf 'skeletal system disease' 'Hammer Toe Syndrome' SubClassOf 'has_disease_location' some ('foot' or ('part_of' some 'foot')) http://www.ebi.ac.uk/efo/EFO_1001335 Gynatresia 'Gynatresia' SubClassOf 'female reproductive system disease' 'Gynatresia' SubClassOf 'female reproductive system disease' 'Gynatresia' SubClassOf 'has_disease_location' some ('female reproductive system' or ('part_of' some 'female reproductive system')) http://www.orpha.net/ORDO/Orphanet_104004 Intestinal disease due to vitamin absorption anomaly 'Intestinal disease due to vitamin absorption anomaly' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://www.orpha.net/ORDO/Orphanet_2812 Parana hard-skin syndrome 'Parana hard-skin syndrome' SubClassOf 'Unclassified genetic skin disorder' 'Parana hard-skin syndrome' SubClassOf 'Unclassified genetic skin disorder' 'Parana hard-skin syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 http://www.orpha.net/ORDO/Orphanet_104003 Congenital intestinal transport defect 'Congenital intestinal transport defect' SubClassOf 'intestinal disease' 'Congenital intestinal transport defect' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044975 'Congenital intestinal transport defect' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://www.ebi.ac.uk/efo/EFO_1001333 Glycogen Storage Disease Type 2b 'Glycogen Storage Disease Type 2b' SubClassOf 'Glycogen storage disease due to acid maltase deficiency' 'Glycogen Storage Disease Type 2b' SubClassOf 'Muscular glycogenosis' 'Glycogen Storage Disease Type 2b' SubClassOf 'Syndromic neurometabolic disease with X-linked intellectual disability' 'Glycogen Storage Disease Type 2b' SubClassOf 'Lysosomal glycogen storage disease' 'Glycogen Storage Disease Type 2b' SubClassOf 'Glycogen storage disease with hypertrophic cardiomyopathy' 'Glycogen Storage Disease Type 2b' SubClassOf 'Glycogen storage disease due to acid maltase deficiency' 'Glycogen Storage Disease Type 2b' SubClassOf 'Glycogen storage disease' http://www.ebi.ac.uk/efo/EFO_1001332 Giant Lymph Node Hyperplasia 'Giant Lymph Node Hyperplasia' SubClassOf 'lymphatic system disease' 'Giant Lymph Node Hyperplasia' SubClassOf 'lymphatic system disease' http://www.ebi.ac.uk/efo/EFO_1001331 Genital neoplasm, female 'Genital neoplasm, female' SubClassOf 'neoplasm' 'Genital neoplasm, female' SubClassOf 'has_disease_location' some ('female reproductive system' or ('part_of' some 'female reproductive system')) http://www.ebi.ac.uk/efo/EFO_0001920 obsolete_entorhinal cortex 'obsolete_entorhinal cortex' SubClassOf 'obsolete class' 'obsolete_entorhinal cortex' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001330 Foster-Kennedy syndrome 'Foster-Kennedy syndrome' SubClassOf 'nervous system disease' 'Foster-Kennedy syndrome' SubClassOf 'nervous system disease' 'Foster-Kennedy syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002003 http://www.ebi.ac.uk/efo/EFO_0001922 obsolete_female accessory gland 'obsolete_female accessory gland' SubClassOf 'obsolete class' 'obsolete_female accessory gland' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001921 obsolete_extraocular muscle 'obsolete_extraocular muscle' SubClassOf 'obsolete class' 'obsolete_extraocular muscle' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2809 Familial recurrent peripheral facial palsy 'Familial recurrent peripheral facial palsy' SubClassOf 'Genetic peripheral neuropathy' 'Familial recurrent peripheral facial palsy' SubClassOf 'Genetic peripheral neuropathy' http://www.orpha.net/ORDO/Orphanet_83617 Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis 'Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis' SubClassOf 'Genetic immune deficiency with skin involvement' 'Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis' SubClassOf 'Syndromic agammaglobulinemia' 'Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001902 'Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 'Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis' SubClassOf 'Genetic immune deficiency with skin involvement' 'Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis' SubClassOf 'Syndromic agammaglobulinemia' http://www.ebi.ac.uk/efo/EFO_0001924 obsolete_flower bud 'obsolete_flower bud' SubClassOf 'obsolete class' 'obsolete_flower bud' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001923 obsolete_floor of mouth 'obsolete_floor of mouth' SubClassOf 'obsolete class' 'obsolete_floor of mouth' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_83619 Macrostomia - preauricular tags - external ophthalmoplegia 'Macrostomia - preauricular tags - external ophthalmoplegia' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Macrostomia - preauricular tags - external ophthalmoplegia' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.ebi.ac.uk/efo/EFO_0001926 obsolete_gynoecium 'obsolete_gynoecium' SubClassOf 'obsolete class' 'obsolete_gynoecium' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001925 obsolete_gum 'obsolete_gum' SubClassOf 'obsolete class' 'obsolete_gum' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001339 Heart neoplasm 'Heart neoplasm' SubClassOf 'neoplasm' 'Heart neoplasm' SubClassOf 'heart disease' 'Heart neoplasm' SubClassOf 'neoplasm' 'Heart neoplasm' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021350 'Heart neoplasm' SubClassOf 'has_disease_location' some ('heart' or ('part_of' some 'heart')) 'Heart neoplasm' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024757 'Heart neoplasm' SubClassOf 'heart disease' http://www.orpha.net/ORDO/Orphanet_2805 Partial pancreatic agenesis 'Partial pancreatic agenesis' SubClassOf 'Non-syndromic visceral malformation' 'Partial pancreatic agenesis' SubClassOf 'Non-syndromic visceral malformation' http://www.ebi.ac.uk/efo/EFO_0001928 obsolete_hindlimb muscle 'obsolete_hindlimb muscle' SubClassOf 'obsolete class' 'obsolete_hindlimb muscle' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001338 obsolete_Hearing Loss, Noise-Induced 'obsolete_Hearing Loss, Noise-Induced' SubClassOf 'obsolete class' 'obsolete_Hearing Loss, Noise-Induced' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2804 W syndrome 'W syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'W syndrome' SubClassOf 'Epilepsy syndrome' 'W syndrome' SubClassOf 'Orofacial clefting syndrome' 'W syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'W syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 'W syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'W syndrome' SubClassOf 'Epilepsy syndrome' 'W syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'W syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'W syndrome' SubClassOf 'Orofacial clefting syndrome' http://www.ebi.ac.uk/efo/EFO_0001927 obsolete_head capsule 'obsolete_head capsule' SubClassOf 'obsolete class' 'obsolete_head capsule' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001337 Hand-Arm Vibration Syndrome 'Hand-Arm Vibration Syndrome' SubClassOf 'nervous system disease' 'Hand-Arm Vibration Syndrome' SubClassOf 'nervous system disease' http://www.ebi.ac.uk/efo/EFO_0001929 obsolete_hip 'obsolete_hip' SubClassOf 'obsolete class' 'obsolete_hip' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_45358 Congenital fibrosis of extraocular muscles 'Congenital fibrosis of extraocular muscles' SubClassOf 'Progressive muscular dystrophy' 'Congenital fibrosis of extraocular muscles' SubClassOf 'Syndrome with a symptomatic strabismus' 'Congenital fibrosis of extraocular muscles' SubClassOf 'Myopathy with eye involvement' 'Congenital fibrosis of extraocular muscles' SubClassOf 'ocular motility disease' 'Congenital fibrosis of extraocular muscles' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004746 'Congenital fibrosis of extraocular muscles' SubClassOf 'Progressive muscular dystrophy' 'Congenital fibrosis of extraocular muscles' SubClassOf 'Syndrome with a symptomatic strabismus' 'Congenital fibrosis of extraocular muscles' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020169 http://purl.obolibrary.org/obo/UBERON_0002227 spiral organ of cochlea 'spiral organ of cochlea' SubClassOf 'internal ear' 'spiral organ of cochlea' SubClassOf 'part_of' some 'cochlea' 'spiral organ of cochlea' SubClassOf 'internal ear' http://purl.obolibrary.org/obo/UBERON_0002228 rib 'rib' SubClassOf 'appendicular skeleton' 'rib' SubClassOf http://purl.obolibrary.org/obo/UBERON_0002513 'rib' SubClassOf http://purl.obolibrary.org/obo/UBERON_0002495 'rib' SubClassOf 'appendicular skeleton' 'rib' DisjointWith http://purl.obolibrary.org/obo/UBERON_0010898 http://purl.obolibrary.org/obo/CHEBI_34908 pentachloronitrobenzene 'pentachloronitrobenzene' SubClassOf 'has_role' some 'fungicide' http://www.ebi.ac.uk/efo/EFO_1000015 aldosterone-producing adenoma 'aldosterone-producing adenoma' SubClassOf 'adenoma' 'aldosterone-producing adenoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016507 'aldosterone-producing adenoma' SubClassOf 'adenoma' 'aldosterone-producing adenoma' SubClassOf 'adrenocortical adenoma' http://www.ebi.ac.uk/efo/EFO_1001347 Herpes Labialis 'Herpes Labialis' SubClassOf 'Herpesviridae infectious disease' 'Herpes Labialis' SubClassOf 'Herpesviridae infectious disease' http://www.orpha.net/ORDO/Orphanet_2824 Paraplegia - intellectual disability - hyperkeratosis 'Paraplegia - intellectual disability - hyperkeratosis' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Paraplegia - intellectual disability - hyperkeratosis' SubClassOf 'X-linked syndromic intellectual disability' 'Paraplegia - intellectual disability - hyperkeratosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Paraplegia - intellectual disability - hyperkeratosis' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Paraplegia - intellectual disability - hyperkeratosis' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/CHEBI_34905 paraquat 'paraquat' SubClassOf 'has_role' some 'agrochemical role' http://www.ebi.ac.uk/efo/EFO_1000016 anaplastic lung carcinoma 'anaplastic lung carcinoma' SubClassOf 'non-small cell lung carcinoma' 'anaplastic lung carcinoma' SubClassOf 'has_disease_location' some ('lung' or ('part_of' some 'lung')) 'anaplastic lung carcinoma' SubClassOf 'non-small cell lung carcinoma' http://www.ebi.ac.uk/efo/EFO_1001346 Hepatopulmonary Syndrome 'Hepatopulmonary Syndrome' SubClassOf 'vascular disease' 'Hepatopulmonary Syndrome' SubClassOf 'liver disease' 'Hepatopulmonary Syndrome' SubClassOf 'vascular disease' http://www.orpha.net/ORDO/Orphanet_2823 Paraplegia - brachydactyly - cone-shaped epiphysis 'Paraplegia - brachydactyly - cone-shaped epiphysis' SubClassOf 'Syndrome with brachydactyly' 'Paraplegia - brachydactyly - cone-shaped epiphysis' SubClassOf 'Syndrome with brachydactyly' http://www.ebi.ac.uk/efo/EFO_1000013 Prinzmetal's angina 'Prinzmetal's angina' SubClassOf 'cardiovascular disease' 'Prinzmetal's angina' SubClassOf 'Coronary Vasospasm' http://www.ebi.ac.uk/efo/EFO_1001345 Hepatitis, Alcoholic 'Hepatitis, Alcoholic' SubClassOf 'alcoholic liver disease' 'Hepatitis, Alcoholic' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021166 'Hepatitis, Alcoholic' SubClassOf 'has_disease_location' some ('liver' or ('part_of' some 'liver')) 'Hepatitis, Alcoholic' SubClassOf 'alcoholic liver disease' http://www.orpha.net/ORDO/Orphanet_2822 Autosomal recessive spastic paraplegia type 11 'Autosomal recessive spastic paraplegia type 11' SubClassOf 'Pure or complex autosomal recessive spastic paraplegia' 'Autosomal recessive spastic paraplegia type 11' SubClassOf 'Complex hereditary spastic paraplegia' 'Autosomal recessive spastic paraplegia type 11' SubClassOf 'Pure or complex autosomal recessive spastic paraplegia' 'Autosomal recessive spastic paraplegia type 11' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 http://www.ebi.ac.uk/efo/EFO_1000014 acidosis 'acidosis' SubClassOf 'has_disease_location' some 'blood' 'acidosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0041261 http://www.ebi.ac.uk/efo/EFO_1001344 Hemarthrosis 'Hemarthrosis' SubClassOf 'hematologic disease' 'Hemarthrosis' SubClassOf 'hematologic disease' 'Hemarthrosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044967 'Hemarthrosis' SubClassOf 'joint disease' http://www.orpha.net/ORDO/Orphanet_104013 Metabolic disease with intestinal involvement 'Metabolic disease with intestinal involvement' SubClassOf 'metabolic disease' 'Metabolic disease with intestinal involvement' SubClassOf 'intestinal disease' 'Metabolic disease with intestinal involvement' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024297 'Metabolic disease with intestinal involvement' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://www.orpha.net/ORDO/Orphanet_2821 Spastic paraplegia - neuropathy - poikiloderma 'Spastic paraplegia - neuropathy - poikiloderma' SubClassOf 'Autosomal dominant complex spastic paraplegia' 'Spastic paraplegia - neuropathy - poikiloderma' SubClassOf 'Autosomal dominant complex spastic paraplegia' http://www.ebi.ac.uk/efo/EFO_1001343 Hemangioma, Cavernous, Central Nervous System 'Hemangioma, Cavernous, Central Nervous System' SubClassOf 'Cavernous Hemangioma' 'Hemangioma, Cavernous, Central Nervous System' SubClassOf 'has_disease_location' some ('central nervous system' or ('part_of' some 'central nervous system')) 'Hemangioma, Cavernous, Central Nervous System' SubClassOf 'Cavernous Hemangioma' http://www.orpha.net/ORDO/Orphanet_2820 Spastic paraplegia - nephritis - deafness 'Spastic paraplegia - nephritis - deafness' SubClassOf 'Syndromic renal or urinary tract malformation' 'Spastic paraplegia - nephritis - deafness' SubClassOf 'Syndromic genetic deafness' 'Spastic paraplegia - nephritis - deafness' SubClassOf 'Autosomal dominant complex spastic paraplegia' 'Spastic paraplegia - nephritis - deafness' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Spastic paraplegia - nephritis - deafness' SubClassOf 'Syndromic renal or urinary tract malformation' 'Spastic paraplegia - nephritis - deafness' SubClassOf 'Syndromic genetic deafness' 'Spastic paraplegia - nephritis - deafness' SubClassOf 'Autosomal dominant complex spastic paraplegia' http://www.ebi.ac.uk/efo/EFO_1000012 Rienhoff syndrome 'Rienhoff syndrome' SubClassOf 'Loeys-Dietz syndrome' 'Rienhoff syndrome' SubClassOf 'Familial thoracic aortic aneurysm and aortic dissection' 'Rienhoff syndrome' SubClassOf 'Loeys-Dietz syndrome' 'Rienhoff syndrome' SubClassOf 'has_disease_location' some ('aorta' or ('part_of' some 'aorta')) http://www.ebi.ac.uk/efo/EFO_1001342 Helminthiasis 'Helminthiasis' SubClassOf 'parasitic infection' 'Helminthiasis' SubClassOf 'parasitic infection' http://www.ebi.ac.uk/efo/EFO_1001341 Heavy Chain Disease 'Heavy Chain Disease' SubClassOf 'immune system disease' 'Heavy Chain Disease' SubClassOf 'immune system disease' 'Heavy Chain Disease' SubClassOf 'plasma cell neoplasm' http://www.orpha.net/ORDO/Orphanet_141000 Orofaciodigital syndrome type 11 'Orofaciodigital syndrome type 11' SubClassOf 'Orofaciodigital syndrome' 'Orofaciodigital syndrome type 11' SubClassOf 'Orofaciodigital syndrome' http://www.ebi.ac.uk/efo/EFO_0001911 obsolete_caudal ganglionic eminence 'obsolete_caudal ganglionic eminence' SubClassOf 'obsolete class' 'obsolete_caudal ganglionic eminence' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/UBERON_0004880 chordamesoderm 'chordamesoderm' SubClassOf 'part_of' some 'embryo' 'chordamesoderm' SubClassOf 'embryonic structure' 'chordamesoderm' SubClassOf 'part_of' some 'axial mesoderm' http://www.ebi.ac.uk/efo/EFO_0001913 obsolete_cervix epithelium 'obsolete_cervix epithelium' SubClassOf 'obsolete class' 'obsolete_cervix epithelium' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2819 Spastic paraplegia - facial-cutaneous lesions 'Spastic paraplegia - facial-cutaneous lesions' SubClassOf 'Autosomal dominant complex spastic paraplegia' 'Spastic paraplegia - facial-cutaneous lesions' SubClassOf 'Autosomal dominant complex spastic paraplegia' http://www.ebi.ac.uk/efo/EFO_0001912 obsolete_caudate putamen 'obsolete_caudate putamen' SubClassOf 'obsolete class' 'obsolete_caudate putamen' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2818 Spastic paraplegia - glaucoma - intellectual disability 'Spastic paraplegia - glaucoma - intellectual disability' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Spastic paraplegia - glaucoma - intellectual disability' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Spastic paraplegia - glaucoma - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 http://www.ebi.ac.uk/efo/EFO_0001915 obsolete_choroid plexus 'obsolete_choroid plexus' SubClassOf 'obsolete class' 'obsolete_choroid plexus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000019 breast synovial sarcoma 'breast synovial sarcoma' SubClassOf 'synovial sarcoma' 'breast synovial sarcoma' SubClassOf 'has_disease_location' some ('breast' or ('part_of' some 'breast')) 'breast synovial sarcoma' SubClassOf 'synovial sarcoma' 'breast synovial sarcoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002490 http://www.ebi.ac.uk/efo/EFO_0001914 obsolete_brain ventricle 'obsolete_brain ventricle' SubClassOf 'obsolete class' 'obsolete_brain ventricle' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2816 Spastic paraplegia - epilepsy - intellectual disability 'Spastic paraplegia - epilepsy - intellectual disability' SubClassOf 'Autosomal dominant complex spastic paraplegia' 'Spastic paraplegia - epilepsy - intellectual disability' SubClassOf 'Autosomal dominant complex spastic paraplegia' 'Spastic paraplegia - epilepsy - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 http://www.ebi.ac.uk/efo/EFO_0001917 obsolete_corneal epithelium 'obsolete_corneal epithelium' SubClassOf 'obsolete class' 'obsolete_corneal epithelium' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000017 autosomal recessive disease 'autosomal recessive disease' SubClassOf 'genetic disorder' 'autosomal recessive disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000429 http://purl.obolibrary.org/obo/MONDO_0000425 DisjointWith 'autosomal recessive disease' 'autosomal recessive disease' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0000426 DisjointWith 'autosomal recessive disease' http://www.ebi.ac.uk/efo/EFO_1001349 Human T-lymphotropic virus 2 infectious disease 'Human T-lymphotropic virus 2 infectious disease' SubClassOf 'viral disease' 'Human T-lymphotropic virus 2 infectious disease' SubClassOf 'viral disease' 'Human T-lymphotropic virus 2 infectious disease' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Human T-lymphotropic virus 2 infectious disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021184 http://www.orpha.net/ORDO/Orphanet_2815 Spastic paraparesis - deafness 'Spastic paraparesis - deafness' SubClassOf 'Syndromic genetic deafness' 'Spastic paraparesis - deafness' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_324540 Aphonia - deafness - retinal dystrophy - bifid halluces - intellectual disability 'Aphonia - deafness - retinal dystrophy - bifid halluces - intellectual disability' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Aphonia - deafness - retinal dystrophy - bifid halluces - intellectual disability' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Aphonia - deafness - retinal dystrophy - bifid halluces - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Aphonia - deafness - retinal dystrophy - bifid halluces - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 http://www.ebi.ac.uk/efo/EFO_1000018 bladder disease 'bladder disease' SubClassOf 'disease' 'bladder disease' EquivalentTo 'has_disease_location' some 'urinary bladder' 'bladder disease' SubClassOf 'urinary system disease' http://www.ebi.ac.uk/efo/EFO_0001916 obsolete_conjunctival epithelium 'obsolete_conjunctival epithelium' SubClassOf 'obsolete class' 'obsolete_conjunctival epithelium' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001348 HIV-Associated Lipodystrophy Syndrome 'HIV-Associated Lipodystrophy Syndrome' SubClassOf 'HIV infection' 'HIV-Associated Lipodystrophy Syndrome' SubClassOf 'HIV infection' http://www.ebi.ac.uk/efo/EFO_0001919 obsolete_dorsal raphe nucleus 'obsolete_dorsal raphe nucleus' SubClassOf 'obsolete class' 'obsolete_dorsal raphe nucleus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001918 obsolete_decidua basalis 'obsolete_decidua basalis' SubClassOf 'obsolete class' 'obsolete_decidua basalis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001350 Immunoblastic Lymphadenopathy 'Immunoblastic Lymphadenopathy' SubClassOf 'lymphoma' 'Immunoblastic Lymphadenopathy' SubClassOf 'lymphoma' http://www.ebi.ac.uk/efo/EFO_1000026 diffuse intrinsic pontine glioma 'diffuse intrinsic pontine glioma' SubClassOf 'glioma' 'diffuse intrinsic pontine glioma' SubClassOf 'glioma' 'diffuse intrinsic pontine glioma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003869 'diffuse intrinsic pontine glioma' SubClassOf 'has_disease_location' some ('brain' or ('part_of' some 'brain')) http://www.ebi.ac.uk/efo/EFO_1001358 Leprosy, Paucibacillary 'Leprosy, Paucibacillary' SubClassOf 'leprosy' 'Leprosy, Paucibacillary' SubClassOf 'leprosy' http://www.ebi.ac.uk/efo/EFO_1000027 ependymal neoplasm 'ependymal neoplasm' SubClassOf 'glioma' 'ependymal neoplasm' SubClassOf 'glioma' http://www.ebi.ac.uk/efo/EFO_1001357 Lentivirus Infections 'Lentivirus Infections' SubClassOf 'viral disease' 'Lentivirus Infections' SubClassOf 'Uterine Carcinosarcoma' 'Lentivirus Infections' SubClassOf 'viral disease' http://www.ebi.ac.uk/efo/EFO_1000024 chronic rhinosinusitis 'chronic rhinosinusitis' SubClassOf 'respiratory system disease' 'chronic rhinosinusitis' SubClassOf 'sinusitis' 'chronic rhinosinusitis' SubClassOf 'has modifier' some 'chronic' http://www.ebi.ac.uk/efo/EFO_1001356 Leiomyoma, Epithelioid 'Leiomyoma, Epithelioid' SubClassOf 'neoplasm' 'Leiomyoma, Epithelioid' SubClassOf 'neoplasm' http://www.ebi.ac.uk/efo/EFO_1000025 cystitis 'cystitis' SubClassOf 'bladder disease' 'cystitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021166 'cystitis' SubClassOf 'bladder disease' 'cystitis' SubClassOf 'has_disease_location' some ('urinary bladder' or ('part_of' some 'urinary bladder')) http://www.ebi.ac.uk/efo/EFO_1001355 Laryngopharyngeal Reflux 'Laryngopharyngeal Reflux' SubClassOf 'gastroesophageal reflux disease' 'Laryngopharyngeal Reflux' SubClassOf 'gastroesophageal reflux disease' http://www.ebi.ac.uk/efo/EFO_0001940 obsolete_umbilical vein 'obsolete_umbilical vein' SubClassOf 'obsolete class' 'obsolete_umbilical vein' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000022 obsolete_cervical squamous cell carcinoma 'obsolete_cervical squamous cell carcinoma' SubClassOf 'obsolete class' 'obsolete_cervical squamous cell carcinoma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001354 Kleine-Levin Syndrome 'Kleine-Levin Syndrome' SubClassOf 'hypersomnia' 'Kleine-Levin Syndrome' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Kleine-Levin Syndrome' SubClassOf 'hypersomnia' 'Kleine-Levin Syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004617 'Kleine-Levin Syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 http://www.ebi.ac.uk/efo/EFO_1000023 chronic cystitis 'chronic cystitis' SubClassOf 'cystitis' 'chronic cystitis' SubClassOf 'has modifier' some 'chronic' 'chronic cystitis' SubClassOf 'cystitis' 'chronic cystitis' SubClassOf 'has_disease_location' some ('urinary bladder' or ('part_of' some 'urinary bladder')) http://www.ebi.ac.uk/efo/EFO_1001353 Klebsiella Infections 'Klebsiella Infections' SubClassOf 'bacterial disease' 'Klebsiella Infections' SubClassOf 'bacterial disease' http://www.ebi.ac.uk/efo/EFO_0001942 obsolete_umbilical cord blood 'obsolete_umbilical cord blood' SubClassOf 'obsolete class' 'obsolete_umbilical cord blood' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000020 cecum adenocarcinoma 'cecum adenocarcinoma' SubClassOf 'colorectal adenocarcinoma' 'cecum adenocarcinoma' SubClassOf 'colon adenocarcinoma' 'cecum adenocarcinoma' SubClassOf 'has_disease_location' some ('caecum' or ('part_of' some 'caecum')) 'cecum adenocarcinoma' SubClassOf 'colorectal adenocarcinoma' 'cecum adenocarcinoma' SubClassOf 'cecum carcinoma' http://www.ebi.ac.uk/efo/EFO_1001352 Kartagener Syndrome 'Kartagener Syndrome' SubClassOf 'genetic disorder' 'Kartagener Syndrome' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0001941 blood component 'blood component' EquivalentTo 'part_of' some 'blood' http://www.ebi.ac.uk/efo/EFO_1000021 cecum carcinoma 'cecum carcinoma' SubClassOf 'colorectal cancer' 'cecum carcinoma' SubClassOf 'colonic neoplasm' 'cecum carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002033 'cecum carcinoma' SubClassOf 'colorectal cancer' 'cecum carcinoma' SubClassOf 'has_disease_location' some ('caecum' or ('part_of' some 'caecum')) 'cecum carcinoma' SubClassOf 'colon carcinoma' http://www.ebi.ac.uk/efo/EFO_1001351 infectious arthritis 'infectious arthritis' SubClassOf 'arthritis' 'infectious arthritis' SubClassOf http://purl.obolibrary.org/obo/RO_0004028 some 'bacterial disease' 'infectious arthritis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0042485 'infectious arthritis' SubClassOf 'arthritis' 'infectious arthritis' EquivalentTo 'arthritis' and (http://purl.obolibrary.org/obo/RO_0004028 some 'bacterial disease') http://www.ebi.ac.uk/efo/EFO_0000612 myocardial infarction 'myocardial infarction' SubClassOf 'heart disease' 'myocardial infarction' SubClassOf 'has_disease_location' some 'heart' 'myocardial infarction' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024643 http://www.ebi.ac.uk/efo/EFO_0001944 obsolete_superior temporal gyrus 'obsolete_superior temporal gyrus' SubClassOf 'obsolete class' 'obsolete_superior temporal gyrus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000613 myxoid liposarcoma 'myxoid liposarcoma' SubClassOf 'liposarcoma' 'myxoid liposarcoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020561 'myxoid liposarcoma' SubClassOf 'has_disease_location' some 'adipose tissue' http://www.ebi.ac.uk/efo/EFO_0001943 obsolete_thigh 'obsolete_thigh' SubClassOf 'obsolete class' 'obsolete_thigh' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000614 narcolepsy with cataplexy 'narcolepsy with cataplexy' SubClassOf 'Sleep Disorder' 'narcolepsy with cataplexy' SubClassOf 'has_disease_location' some 'brain' 'narcolepsy with cataplexy' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'narcolepsy with cataplexy' SubClassOf 'brain disease' 'narcolepsy with cataplexy' SubClassOf 'has_disease_location' only 'brain' 'narcolepsy with cataplexy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021107 'narcolepsy with cataplexy' DisjointWith 'narcolepsy without cataplexy' http://www.ebi.ac.uk/efo/EFO_0001946 obsolete_soleus muscle 'obsolete_soleus muscle' SubClassOf 'obsolete class' 'obsolete_soleus muscle' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001945 obsolete_superior cervical ganglion 'obsolete_superior cervical ganglion' SubClassOf 'obsolete class' 'obsolete_superior cervical ganglion' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001948 shoot component 'shoot component' EquivalentTo 'part_of' some 'shoot' http://www.ebi.ac.uk/efo/EFO_0000616 neoplasm 'neoplasm' SubClassOf 'disease' 'neoplasm' DisjointWith 'uninfected' 'neoplasm' DisjointWith 'pigmented villonodular synovitis' 'neoplasm' SubClassOf 'realized_in' some ('disease course' and ('has part' some 'cell proliferation')) 'neoplasm' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023370 'neoplasm' DisjointWith 'breast adenosis' http://www.ebi.ac.uk/efo/EFO_0000617 obsolete_nerve cell 'obsolete_nerve cell' SubClassOf 'obsolete class' 'obsolete_nerve cell' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001947 obsolete_shoot apex 'obsolete_shoot apex' SubClassOf 'obsolete class' 'obsolete_shoot apex' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000618 nervous system disease 'nervous system disease' SubClassOf 'disease' 'nervous system disease' DisjointWith 'uninfected' 'nervous system disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021199 'nervous system disease' EquivalentTo 'has_disease_location' some ('nervous system' or ('part_of' some 'nervous system')) http://www.ebi.ac.uk/efo/EFO_1000028 ependymoma 'ependymoma' SubClassOf 'ependymal neoplasm' 'ependymoma' SubClassOf 'has_disease_location' some ('brain' or ('part_of' some 'brain')) 'ependymoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021639 'ependymoma' EquivalentTo 'ependymal neoplasm' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0024492) 'ependymoma' SubClassOf 'ependymal neoplasm' http://www.ebi.ac.uk/efo/EFO_0001949 obsolete_muscle 'obsolete_muscle' SubClassOf 'obsolete class' 'obsolete_muscle' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000029 gastric adenosquamous carcinoma 'gastric adenosquamous carcinoma' SubClassOf 'gastric carcinoma' 'gastric adenosquamous carcinoma' SubClassOf 'Adenosquamous Carcinoma' 'gastric adenosquamous carcinoma' SubClassOf 'Gastric Squamous Cell Carcinoma' 'gastric adenosquamous carcinoma' SubClassOf 'has_disease_location' some ('stomach' or ('part_of' some 'stomach')) 'gastric adenosquamous carcinoma' SubClassOf 'gastric carcinoma' http://www.ebi.ac.uk/efo/EFO_1001359 Leukocyte-Adhesion Deficiency Syndrome 'Leukocyte-Adhesion Deficiency Syndrome' SubClassOf 'genetic disorder' 'Leukocyte-Adhesion Deficiency Syndrome' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_324535 Combined oxidative phosphorylation defect type 11 'Combined oxidative phosphorylation defect type 11' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Combined oxidative phosphorylation defect type 11' SubClassOf 'Neurometabolic disease' 'Combined oxidative phosphorylation defect type 11' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000732 'Combined oxidative phosphorylation defect type 11' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Combined oxidative phosphorylation defect type 11' SubClassOf 'Neurometabolic disease' 'Combined oxidative phosphorylation defect type 11' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 http://www.ebi.ac.uk/efo/EFO_1001361 localised scleroderma 'localised scleroderma' SubClassOf 'mixed connective tissue disease' 'localised scleroderma' SubClassOf 'scleroderma' 'localised scleroderma' SubClassOf 'mixed connective tissue disease' 'localised scleroderma' SubClassOf 'scleroderma' http://www.ebi.ac.uk/efo/EFO_1000030 gastric tubular adenocarcinoma 'gastric tubular adenocarcinoma' SubClassOf 'gastric adenocarcinoma' 'gastric tubular adenocarcinoma' SubClassOf 'tubular adenocarcinoma' 'gastric tubular adenocarcinoma' SubClassOf 'has_disease_location' some ('stomach' or ('part_of' some 'stomach')) 'gastric tubular adenocarcinoma' SubClassOf 'gastric adenocarcinoma' 'gastric tubular adenocarcinoma' SubClassOf 'tubular adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_1001360 Leukoplakia, Hairy 'Leukoplakia, Hairy' SubClassOf 'mouth neoplasm' 'Leukoplakia, Hairy' SubClassOf 'has_disease_location' some ('mouth' or ('part_of' some 'mouth')) 'Leukoplakia, Hairy' SubClassOf 'mouth neoplasm' http://www.orpha.net/ORDO/Orphanet_313884 12p12.1 microdeletion syndrome '12p12.1 microdeletion syndrome' SubClassOf 'Partial deletion of the short arm of chromosome 12' '12p12.1 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0014778 '12p12.1 microdeletion syndrome' SubClassOf 'Partial deletion of the short arm of chromosome 12' http://www.ebi.ac.uk/efo/EFO_1000037 lung carcinoid tumor 'lung carcinoid tumor' SubClassOf 'respiratory system neoplasm' 'lung carcinoid tumor' SubClassOf 'lung disease' 'lung carcinoid tumor' SubClassOf 'carcinoid tumor' 'lung carcinoid tumor' SubClassOf 'has_disease_location' some ('lung' or ('part_of' some 'lung')) 'lung carcinoid tumor' SubClassOf 'pulmonary neuroendocrine tumor' http://www.ebi.ac.uk/efo/EFO_1001369 Meningomyelocele 'Meningomyelocele' SubClassOf 'has_disease_location' some ('meninx' or ('part_of' some 'meninx')) 'Meningomyelocele' SubClassOf 'nervous system disease' http://www.ebi.ac.uk/efo/EFO_1000038 obsolete_lung mucoepidermoid carcinoma 'obsolete_lung mucoepidermoid carcinoma' SubClassOf 'obsolete class' 'obsolete_lung mucoepidermoid carcinoma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001368 Mediastinal Cyst 'Mediastinal Cyst' SubClassOf 'neoplasm' 'Mediastinal Cyst' SubClassOf 'neoplasm' 'Mediastinal Cyst' SubClassOf 'has_disease_location' some ('mediastinum' or ('part_of' some 'mediastinum')) http://www.ebi.ac.uk/efo/EFO_1000035 infectious colitis 'infectious colitis' SubClassOf 'colitis' 'infectious colitis' SubClassOf 'has_disease_location' some ('intestine' or ('part_of' some 'intestine')) 'infectious colitis' SubClassOf 'colitis' 'infectious colitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043424 http://www.ebi.ac.uk/efo/EFO_1001367 Medial Tibial Stress Syndrome 'Medial Tibial Stress Syndrome' SubClassOf 'muscular disease' 'Medial Tibial Stress Syndrome' SubClassOf 'muscular disease' http://www.ebi.ac.uk/efo/EFO_1000036 lactic acidosis 'lactic acidosis' SubClassOf 'metabolic disease' 'lactic acidosis' SubClassOf 'metabolic disease' 'lactic acidosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024297 http://www.ebi.ac.uk/efo/EFO_1001366 Mastodynia 'Mastodynia' SubClassOf 'pain' 'Mastodynia' SubClassOf 'pain' http://www.ebi.ac.uk/efo/EFO_1000033 obsolete_hydrolethalus syndrome 'obsolete_hydrolethalus syndrome' SubClassOf 'obsolete class' 'obsolete_hydrolethalus syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001365 Lymphoma, AIDS-Related 'Lymphoma, AIDS-Related' SubClassOf 'non-Hodgkins lymphoma' 'Lymphoma, AIDS-Related' SubClassOf 'non-Hodgkins lymphoma' http://www.orpha.net/ORDO/Orphanet_104078 Unclassified intestinal pseudoobstruction 'Unclassified intestinal pseudoobstruction' SubClassOf 'Chronic intestinal pseudoobstruction' 'Unclassified intestinal pseudoobstruction' SubClassOf 'Chronic intestinal pseudoobstruction' http://www.ebi.ac.uk/efo/EFO_1000034 indeterminate colitis 'indeterminate colitis' SubClassOf 'inflammatory bowel disease' 'indeterminate colitis' SubClassOf 'has_disease_location' some ('colon' or ('part_of' some 'colon')) 'indeterminate colitis' SubClassOf 'colitis' 'indeterminate colitis' SubClassOf 'inflammatory bowel disease' http://www.ebi.ac.uk/efo/EFO_1001364 Lymphatic Metastasis 'Lymphatic Metastasis' SubClassOf 'metastasis' 'Lymphatic Metastasis' SubClassOf 'metastasis' http://www.orpha.net/ORDO/Orphanet_104077 Myopathic intestinal pseudoobstruction 'Myopathic intestinal pseudoobstruction' SubClassOf 'Chronic intestinal pseudoobstruction' 'Myopathic intestinal pseudoobstruction' SubClassOf 'Chronic intestinal pseudoobstruction' http://www.ebi.ac.uk/efo/EFO_0001931 obsolete_hypocotyl 'obsolete_hypocotyl' SubClassOf 'obsolete class' 'obsolete_hypocotyl' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000031 obsolete_genetic disease 'obsolete_genetic disease' SubClassOf 'obsolete class' 'obsolete_genetic disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001363 Lupus Vasculitis, Central Nervous System 'Lupus Vasculitis, Central Nervous System' SubClassOf 'meningoencephalitis' 'Lupus Vasculitis, Central Nervous System' SubClassOf 'has_disease_location' some ('central nervous system' or ('part_of' some 'central nervous system')) 'Lupus Vasculitis, Central Nervous System' SubClassOf 'meningoencephalitis' http://www.ebi.ac.uk/efo/EFO_0001930 obsolete_hypoblast 'obsolete_hypoblast' SubClassOf 'obsolete class' 'obsolete_hypoblast' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000032 granulosa cell tumor 'granulosa cell tumor' SubClassOf 'sex cord-stromal tumor' 'granulosa cell tumor' SubClassOf 'sex cord-stromal tumor' 'granulosa cell tumor' SubClassOf 'has_disease_location' some ('reproductive system' or ('part_of' some 'reproductive system')) 'granulosa cell tumor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002082 http://www.ebi.ac.uk/efo/EFO_1001362 Lung Abscess 'Lung Abscess' SubClassOf 'abscess' 'Lung Abscess' SubClassOf 'lung disease' 'Lung Abscess' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024355 'Lung Abscess' SubClassOf 'has_disease_location' some ('lung' or ('part_of' some 'lung')) 'Lung Abscess' SubClassOf 'lung disease' 'Lung Abscess' SubClassOf 'abscess' http://www.ebi.ac.uk/efo/EFO_0001933 obsolete_wing disc 'obsolete_wing disc' SubClassOf 'obsolete class' 'obsolete_wing disc' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001932 obsolete_hypopharynx 'obsolete_hypopharynx' SubClassOf 'obsolete class' 'obsolete_hypopharynx' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001935 obsolete_ventral tegmental area 'obsolete_ventral tegmental area' SubClassOf 'obsolete class' 'obsolete_ventral tegmental area' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_300573 Polymicrogyria due to TUBB2B mutation 'Polymicrogyria due to TUBB2B mutation' SubClassOf 'Bilateral frontal polymicrogyria' 'Polymicrogyria due to TUBB2B mutation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017120 'Polymicrogyria due to TUBB2B mutation' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Polymicrogyria due to TUBB2B mutation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000904 'Polymicrogyria due to TUBB2B mutation' SubClassOf 'Bilateral frontal polymicrogyria' http://www.ebi.ac.uk/efo/EFO_0001934 obsolete_vomeronasal organ 'obsolete_vomeronasal organ' SubClassOf 'obsolete class' 'obsolete_vomeronasal organ' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000605 obsolete_C57BL/6 'obsolete_C57BL/6' SubClassOf 'obsolete class' 'obsolete_C57BL/6' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001937 obsolete_vastus lateralis 'obsolete_vastus lateralis' SubClassOf 'obsolete class' 'obsolete_vastus lateralis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001936 obsolete_ventral striatum 'obsolete_ventral striatum' SubClassOf 'obsolete class' 'obsolete_ventral striatum' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation 'Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000904 http://www.ebi.ac.uk/efo/EFO_0000607 obsolete_mouse strain 'obsolete_mouse strain' SubClassOf 'obsolete class' 'obsolete_mouse strain' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001939 obsolete_urine 'obsolete_urine' SubClassOf 'obsolete class' 'obsolete_urine' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000039 meningeal tuberculosis 'meningeal tuberculosis' SubClassOf 'central nervous system disease' 'meningeal tuberculosis' SubClassOf 'Tuberculosis' 'meningeal tuberculosis' SubClassOf 'central nervous system tuberculosis' 'meningeal tuberculosis' SubClassOf 'Tuberculosis' 'meningeal tuberculosis' SubClassOf 'has_disease_location' some ('meninx' or ('part_of' some 'meninx')) 'meningeal tuberculosis' SubClassOf 'bacterial meningitis' http://www.ebi.ac.uk/efo/EFO_0001938 obsolete_quadricep muscle 'obsolete_quadricep muscle' SubClassOf 'obsolete class' 'obsolete_quadricep muscle' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_300576 Oligodontia - cancer predisposition syndrome 'Oligodontia - cancer predisposition syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Oligodontia - cancer predisposition syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Oligodontia - cancer predisposition syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' http://www.orpha.net/ORDO/Orphanet_324525 Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation 'Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation' SubClassOf 'Mitochondrial disease with hypertrophic cardiomyopathy' 'Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' 'Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation' SubClassOf 'Primary renal tubular acidosis' 'Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation' SubClassOf 'Mitochondrial disease with hypertrophic cardiomyopathy' 'Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' 'Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation' SubClassOf 'Primary renal tubular acidosis' http://www.ebi.ac.uk/efo/EFO_1000040 metaplastic breast carcinoma 'metaplastic breast carcinoma' SubClassOf 'breast carcinoma' 'metaplastic breast carcinoma' SubClassOf 'has_disease_location' some ('breast' or ('part_of' some 'breast')) 'metaplastic breast carcinoma' SubClassOf 'Invasive Breast Carcinoma' 'metaplastic breast carcinoma' SubClassOf 'breast carcinoma' http://www.ebi.ac.uk/efo/EFO_1001372 Monieziasis 'Monieziasis' SubClassOf 'infectious disease' 'Monieziasis' SubClassOf 'infectious disease' 'Monieziasis' SubClassOf 'Helminthiasis' http://www.ebi.ac.uk/efo/EFO_1000041 nephrosclerosis 'nephrosclerosis' SubClassOf 'hypertension' 'nephrosclerosis' SubClassOf 'kidney disease' 'nephrosclerosis' SubClassOf 'hypertension' 'nephrosclerosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002286 'nephrosclerosis' SubClassOf 'has_disease_location' some ('kidney' or ('part_of' some 'kidney')) 'nephrosclerosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024236 http://www.ebi.ac.uk/efo/EFO_1001371 Mixed Tumor, Mesodermal 'Mixed Tumor, Mesodermal' SubClassOf 'mixed cell type cancer' 'Mixed Tumor, Mesodermal' SubClassOf 'mixed cell type cancer' http://www.ebi.ac.uk/efo/EFO_1001370 Metatarsalgia 'Metatarsalgia' SubClassOf 'pain' 'Metatarsalgia' SubClassOf 'pain' http://www.orpha.net/ORDO/Orphanet_313850 Infantile cerebellar-retinal degeneration 'Infantile cerebellar-retinal degeneration' SubClassOf 'Retinal dystrophy' 'Infantile cerebellar-retinal degeneration' SubClassOf 'Neurometabolic disease' 'Infantile cerebellar-retinal degeneration' SubClassOf 'Tricarboxylic acid cycle disorder' 'Infantile cerebellar-retinal degeneration' SubClassOf 'Genetic neurodegenerative disease' 'Infantile cerebellar-retinal degeneration' SubClassOf 'Retinal dystrophy' 'Infantile cerebellar-retinal degeneration' SubClassOf 'Cerebral organic aciduria' 'Infantile cerebellar-retinal degeneration' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004884 'Infantile cerebellar-retinal degeneration' SubClassOf 'Neurometabolic disease' 'Infantile cerebellar-retinal degeneration' SubClassOf 'Tricarboxylic acid cycle disorder' 'Infantile cerebellar-retinal degeneration' SubClassOf 'Genetic neurodegenerative disease' http://purl.obolibrary.org/obo/UBERON_0003505 trachea blood vessel 'trachea blood vessel' SubClassOf 'blood vessel' 'trachea blood vessel' EquivalentTo 'blood vessel' and ('part_of' some 'trachea') 'trachea blood vessel' SubClassOf http://purl.obolibrary.org/obo/UBERON_0003504 http://www.ebi.ac.uk/efo/EFO_1000048 postweaning multisystemic wasting syndrome 'postweaning multisystemic wasting syndrome' SubClassOf 'animal disease' 'postweaning multisystemic wasting syndrome' SubClassOf 'only_in_taxon' some 'Sus scrofa' 'postweaning multisystemic wasting syndrome' SubClassOf 'animal disease' http://www.ebi.ac.uk/efo/EFO_1000049 pulmonary tuberculosis 'pulmonary tuberculosis' SubClassOf 'Tuberculosis' 'pulmonary tuberculosis' SubClassOf 'Tuberculosis' 'pulmonary tuberculosis' SubClassOf 'has_disease_location' some ('lung' or ('part_of' some 'lung')) 'pulmonary tuberculosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015118 http://purl.obolibrary.org/obo/MONDO_0000368 DisjointWith 'pulmonary tuberculosis' http://www.ebi.ac.uk/efo/EFO_1001379 neuroleptic malignant syndrome 'neuroleptic malignant syndrome' SubClassOf 'nervous system disease' 'neuroleptic malignant syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018753 'neuroleptic malignant syndrome' SubClassOf 'nervous system disease' 'neuroleptic malignant syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 http://www.ebi.ac.uk/efo/EFO_0001960 obsolete_lateral root 'obsolete_lateral root' SubClassOf 'obsolete class' 'obsolete_lateral root' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000046 papillary lung adenocarcinoma 'papillary lung adenocarcinoma' SubClassOf 'lung adenocarcinoma' 'papillary lung adenocarcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002512 'papillary lung adenocarcinoma' SubClassOf 'lung adenocarcinoma' 'papillary lung adenocarcinoma' SubClassOf 'has_disease_location' some ('lung' or ('part_of' some 'lung')) http://www.ebi.ac.uk/efo/EFO_1001378 neurogenic arthropathy 'neurogenic arthropathy' SubClassOf 'joint disease' 'neurogenic arthropathy' SubClassOf http://purl.obolibrary.org/obo/RO_0004022 some 'nervous system disease' 'neurogenic arthropathy' SubClassOf 'joint disease' http://www.ebi.ac.uk/efo/EFO_1000047 pleomorphic breast carcinoma 'pleomorphic breast carcinoma' SubClassOf 'invasive ductal carcinoma' 'pleomorphic breast carcinoma' SubClassOf 'breast carcinoma' 'pleomorphic breast carcinoma' SubClassOf 'has_disease_location' some ('breast' or ('part_of' some 'breast')) 'pleomorphic breast carcinoma' SubClassOf 'invasive ductal carcinoma' http://www.ebi.ac.uk/efo/EFO_1001377 Neisseriaceae Infections 'Neisseriaceae Infections' SubClassOf 'bacterial disease' 'Neisseriaceae Infections' SubClassOf 'bacterial disease' http://www.ebi.ac.uk/efo/EFO_0000630 oligoastrocytoma 'oligoastrocytoma' SubClassOf 'astrocytoma' 'oligoastrocytoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016701 'oligoastrocytoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021638 'oligoastrocytoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021639 http://www.ebi.ac.uk/efo/EFO_0001962 obsolete_brain stem 'obsolete_brain stem' SubClassOf 'obsolete class' 'obsolete_brain stem' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000044 pancreatic adenocarcinoma 'pancreatic adenocarcinoma' SubClassOf 'pancreatic carcinoma' 'pancreatic adenocarcinoma' SubClassOf 'pancreatic carcinoma' 'pancreatic adenocarcinoma' SubClassOf 'adenocarcinoma' 'pancreatic adenocarcinoma' SubClassOf 'has_disease_location' some ('pancreas' or ('part_of' some 'pancreas')) http://www.ebi.ac.uk/efo/EFO_1001376 Necrobiotic Xanthogranuloma 'Necrobiotic Xanthogranuloma' SubClassOf 'skin disease' 'Necrobiotic Xanthogranuloma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015531 'Necrobiotic Xanthogranuloma' SubClassOf 'skin disease' http://www.ebi.ac.uk/efo/EFO_0000631 obsolete_oligoastroglioma 'obsolete_oligoastroglioma' SubClassOf 'obsolete class' 'obsolete_oligoastroglioma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001961 obsolete_lateral ventricle 'obsolete_lateral ventricle' SubClassOf 'obsolete class' 'obsolete_lateral ventricle' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000045 pancreatic neuroendocrine tumor 'pancreatic neuroendocrine tumor' SubClassOf 'pancreatic neoplasm' 'pancreatic neuroendocrine tumor' SubClassOf 'neuroendocrine neoplasm' 'pancreatic neuroendocrine tumor' SubClassOf 'has_disease_location' some ('pancreas' or ('part_of' some 'pancreas')) 'pancreatic neuroendocrine tumor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000386 'pancreatic neuroendocrine tumor' SubClassOf 'islet cell tumor' http://www.ebi.ac.uk/efo/EFO_1001375 Myocardial Ischemia 'Myocardial Ischemia' SubClassOf 'coronary heart disease' 'Myocardial Ischemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024643 'Myocardial Ischemia' SubClassOf 'coronary heart disease' 'Myocardial Ischemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0005053 http://www.orpha.net/ORDO/Orphanet_313855 FGFR2-related bent bone dysplasia 'FGFR2-related bent bone dysplasia' SubClassOf 'Bent bone dysplasia' 'FGFR2-related bent bone dysplasia' SubClassOf 'Bent bone dysplasia' http://www.ebi.ac.uk/efo/EFO_0000632 oligodendroglioma 'oligodendroglioma' SubClassOf 'glioma' 'oligodendroglioma' SubClassOf 'central nervous system cancer' 'oligodendroglioma' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0018744 and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0024492) 'oligodendroglioma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021639 'oligodendroglioma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018744 http://www.ebi.ac.uk/efo/EFO_0001964 obsolete_male accessory gland 'obsolete_male accessory gland' SubClassOf 'obsolete class' 'obsolete_male accessory gland' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000042 ovarian clear cell adenocarcinoma 'ovarian clear cell adenocarcinoma' SubClassOf 'ovarian adenocarcinoma' 'ovarian clear cell adenocarcinoma' SubClassOf 'clear cell adenocarcinoma' 'ovarian clear cell adenocarcinoma' SubClassOf 'has_disease_location' some ('female gonad' or ('part_of' some 'female gonad')) 'ovarian clear cell adenocarcinoma' SubClassOf 'ovarian adenocarcinoma' 'ovarian clear cell adenocarcinoma' SubClassOf 'clear cell adenocarcinoma' 'ovarian clear cell adenocarcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000548 http://www.ebi.ac.uk/efo/EFO_1001374 Mycoplasmatales Infections 'Mycoplasmatales Infections' SubClassOf 'bacterial disease' 'Mycoplasmatales Infections' SubClassOf 'bacterial disease' http://www.ebi.ac.uk/efo/EFO_0000633 operator variation 'operator variation' SubClassOf 'is_about' some 'experimental process' http://www.ebi.ac.uk/efo/EFO_0001963 obsolete_locus coeruleus 'obsolete_locus coeruleus' SubClassOf 'obsolete class' 'obsolete_locus coeruleus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000043 ovarian serous cystadenocarcinoma 'ovarian serous cystadenocarcinoma' SubClassOf 'ovarian serous adenocarcinoma' 'ovarian serous cystadenocarcinoma' SubClassOf 'ovarian cystadenocarcinoma' 'ovarian serous cystadenocarcinoma' SubClassOf 'ovarian serous adenocarcinoma' 'ovarian serous cystadenocarcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024621 'ovarian serous cystadenocarcinoma' SubClassOf 'has_disease_location' some ('female gonad' or ('part_of' some 'female gonad')) http://www.ebi.ac.uk/efo/EFO_0001966 obsolete_ligament 'obsolete_ligament' SubClassOf 'obsolete class' 'obsolete_ligament' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001965 obsolete_mandible 'obsolete_mandible' SubClassOf 'obsolete class' 'obsolete_mandible' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000636 obsolete_organism status 'obsolete_organism status' SubClassOf 'obsolete class' 'obsolete_organism status' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001968 obsolete_medial geniculate nucleus 'obsolete_medial geniculate nucleus' SubClassOf 'obsolete class' 'obsolete_medial geniculate nucleus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000637 osteosarcoma 'osteosarcoma' SubClassOf 'sarcoma' 'osteosarcoma' SubClassOf 'bone disease' 'osteosarcoma' SubClassOf 'has_disease_location' some 'bone' 'osteosarcoma' SubClassOf 'sarcoma' http://www.ebi.ac.uk/efo/EFO_0001967 medial collateral ligament 'medial collateral ligament' SubClassOf 'skeleton structure' 'medial collateral ligament' SubClassOf 'joint component' 'medial collateral ligament' SubClassOf 'part_of' some 'knee joint' http://www.ebi.ac.uk/efo/EFO_0000638 overall survival 'overall survival' SubClassOf 'is_about' some 'population' http://www.ebi.ac.uk/efo/EFO_0000639 papillary cystadenocarcinoma 'papillary cystadenocarcinoma' SubClassOf 'adenocarcinoma' 'papillary cystadenocarcinoma' SubClassOf 'cystadenocarcinoma' 'papillary cystadenocarcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002512 'papillary cystadenocarcinoma' SubClassOf 'Papillary Cystic Neoplasm' http://www.ebi.ac.uk/efo/EFO_0001969 obsolete_medulla of thymus 'obsolete_medulla of thymus' SubClassOf 'obsolete class' 'obsolete_medulla of thymus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_300547 Autosomal recessive infantile hypercalcemia 'Autosomal recessive infantile hypercalcemia' SubClassOf 'calcium metabolic disease' 'Autosomal recessive infantile hypercalcemia' SubClassOf 'Rare genetic parathyroid disease and phosphocalcic metabolism disorder' 'Autosomal recessive infantile hypercalcemia' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'Autosomal recessive infantile hypercalcemia' SubClassOf 'Inborn errors of metabolism' 'Autosomal recessive infantile hypercalcemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019061 'Autosomal recessive infantile hypercalcemia' SubClassOf 'autosomal recessive disease' 'Autosomal recessive infantile hypercalcemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000212 'Autosomal recessive infantile hypercalcemia' SubClassOf 'Rare genetic parathyroid disease and phosphocalcic metabolism disorder' 'Autosomal recessive infantile hypercalcemia' SubClassOf 'realized_in' some ('disease course' and (('has part' some 'calcium ion homeostasis') and ('bearer_of' some 'abnormal'))) 'Autosomal recessive infantile hypercalcemia' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' http://www.ebi.ac.uk/efo/EFO_1000051 reproductive system neoplasm 'reproductive system neoplasm' SubClassOf 'neoplasm' 'reproductive system neoplasm' SubClassOf 'urogenital neoplasm' 'reproductive system neoplasm' SubClassOf 'neoplasm' 'reproductive system neoplasm' SubClassOf 'reproductive system disease' http://www.ebi.ac.uk/efo/EFO_1001383 Opsoclonus-Myoclonus Syndrome 'Opsoclonus-Myoclonus Syndrome' SubClassOf 'eye disease' 'Opsoclonus-Myoclonus Syndrome' SubClassOf 'has_disease_location' some ('eye' or ('part_of' some 'eye')) 'Opsoclonus-Myoclonus Syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017652 'Opsoclonus-Myoclonus Syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015144 'Opsoclonus-Myoclonus Syndrome' SubClassOf 'eye disease' 'Opsoclonus-Myoclonus Syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018215 http://www.ebi.ac.uk/efo/EFO_1000052 sex cord-stromal tumor 'sex cord-stromal tumor' SubClassOf 'urogenital neoplasm' 'sex cord-stromal tumor' SubClassOf 'reproductive system disease' 'sex cord-stromal tumor' SubClassOf 'reproductive system neoplasm' 'sex cord-stromal tumor' SubClassOf 'reproductive system neoplasm' 'sex cord-stromal tumor' SubClassOf 'has_disease_location' some ('reproductive system' or ('part_of' some 'reproductive system')) http://www.ebi.ac.uk/efo/EFO_1001382 Obesity Hypoventilation Syndrome 'Obesity Hypoventilation Syndrome' SubClassOf 'respiratory system disease' 'Obesity Hypoventilation Syndrome' SubClassOf 'respiratory system disease' 'Obesity Hypoventilation Syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003847 http://www.ebi.ac.uk/efo/EFO_1001381 Nocturnal Paroxysmal Dystonia 'Nocturnal Paroxysmal Dystonia' SubClassOf 'Paroxysmal dystonia' 'Nocturnal Paroxysmal Dystonia' SubClassOf 'Paroxysmal dystonia' http://www.ebi.ac.uk/efo/EFO_1000050 renal leiomyoma 'renal leiomyoma' SubClassOf 'neoplasm' 'renal leiomyoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002513 'renal leiomyoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001572 http://www.ebi.ac.uk/efo/EFO_1001380 Niemann-Pick disease 'Niemann-Pick disease' SubClassOf 'Sphingolipidosis' 'Niemann-Pick disease' SubClassOf 'autosomal recessive disease' 'Niemann-Pick disease' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'Niemann-Pick disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015531 'Niemann-Pick disease' SubClassOf 'Sphingolipidosis' http://www.ebi.ac.uk/efo/EFO_1000059 cervical artery dissection 'cervical artery dissection' SubClassOf 'vascular disease' 'cervical artery dissection' SubClassOf 'head and neck disorder' 'cervical artery dissection' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000473 http://www.ebi.ac.uk/efo/EFO_1000057 nasal cavity squamous cell carcinoma 'nasal cavity squamous cell carcinoma' SubClassOf 'head and neck squamous cell carcinoma' 'nasal cavity squamous cell carcinoma' SubClassOf 'head and neck squamous cell carcinoma' 'nasal cavity squamous cell carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003212 'nasal cavity squamous cell carcinoma' SubClassOf ('part_of' some 'nasal cavity') or ('has_disease_location' some 'nasal cavity') http://www.ebi.ac.uk/efo/EFO_1001389 Peptic ulcer perforation 'Peptic ulcer perforation' SubClassOf 'digestive system disease' 'Peptic ulcer perforation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004247 'Peptic ulcer perforation' SubClassOf 'digestive system disease' http://www.ebi.ac.uk/efo/EFO_1000058 nasopharyngeal squamous cell carcinoma 'nasopharyngeal squamous cell carcinoma' SubClassOf 'head and neck squamous cell carcinoma' 'nasopharyngeal squamous cell carcinoma' SubClassOf 'head and neck squamous cell carcinoma' 'nasopharyngeal squamous cell carcinoma' SubClassOf ('part_of' some 'nasopharynx') or ('has_disease_location' some 'nasopharynx') http://www.ebi.ac.uk/efo/EFO_1001388 Pelvic Inflammatory Disease 'Pelvic Inflammatory Disease' SubClassOf 'female reproductive system disease' 'Pelvic Inflammatory Disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021166 'Pelvic Inflammatory Disease' SubClassOf 'female reproductive system disease' 'Pelvic Inflammatory Disease' SubClassOf 'participates_in' some 'inflammatory response' 'Pelvic Inflammatory Disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044965 http://www.ebi.ac.uk/efo/EFO_0001951 obsolete_inferior parietal lobule 'obsolete_inferior parietal lobule' SubClassOf 'obsolete class' 'obsolete_inferior parietal lobule' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000055 tongue squamous cell carcinoma 'tongue squamous cell carcinoma' SubClassOf 'tongue neoplasm' 'tongue squamous cell carcinoma' SubClassOf 'has_disease_location' some ('tongue' or ('part_of' some 'tongue')) 'tongue squamous cell carcinoma' SubClassOf 'tongue neoplasm' http://www.ebi.ac.uk/efo/EFO_1001387 Peliosis Hepatis 'Peliosis Hepatis' SubClassOf 'vascular disease' 'Peliosis Hepatis' SubClassOf 'liver disease' 'Peliosis Hepatis' SubClassOf 'vascular disease' 'Peliosis Hepatis' SubClassOf 'has_disease_location' some ('liver' or ('part_of' some 'liver')) 'Peliosis Hepatis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002405 http://www.ebi.ac.uk/efo/EFO_0001950 obsolete_midgut 'obsolete_midgut' SubClassOf 'obsolete class' 'obsolete_midgut' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000056 obsolete_Wilms tumor(2) 'obsolete_Wilms tumor(2)' SubClassOf 'obsolete class' 'obsolete_Wilms tumor(2)' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001386 Pasteurellaceae Infections 'Pasteurellaceae Infections' SubClassOf 'bacterial disease' 'Pasteurellaceae Infections' SubClassOf 'bacterial disease' http://www.ebi.ac.uk/efo/EFO_0000621 neuroblastoma 'neuroblastoma' SubClassOf 'neoplasm' 'neuroblastoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021635 'neuroblastoma' SubClassOf 'Neuroblastic Tumor' 'neuroblastoma' SubClassOf 'has_disease_location' some 'sympathetic nervous system' http://www.ebi.ac.uk/efo/EFO_0001953 obsolete_external carotid artery 'obsolete_external carotid artery' SubClassOf 'obsolete class' 'obsolete_external carotid artery' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000053 squamous cell breast carcinoma 'squamous cell breast carcinoma' SubClassOf 'squamous cell carcinoma' 'squamous cell breast carcinoma' SubClassOf 'breast carcinoma' 'squamous cell breast carcinoma' SubClassOf 'has_disease_location' some ('breast' or ('part_of' some 'breast')) 'squamous cell breast carcinoma' SubClassOf 'metaplastic breast carcinoma' 'squamous cell breast carcinoma' SubClassOf 'squamous cell carcinoma' http://www.ebi.ac.uk/efo/EFO_0001952 obsolete_internal carotid artery 'obsolete_internal carotid artery' SubClassOf 'obsolete class' 'obsolete_internal carotid artery' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000054 thymic lymphoma 'thymic lymphoma' SubClassOf 'endocrine neoplasm' 'thymic lymphoma' SubClassOf 'lymphoma' 'thymic lymphoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002586 'thymic lymphoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004021 'thymic lymphoma' SubClassOf 'has_disease_location' some ('thymus' or ('part_of' some 'thymus')) 'thymic lymphoma' SubClassOf 'lymphoma' http://www.ebi.ac.uk/efo/EFO_1001384 Panniculitis, Peritoneal 'Panniculitis, Peritoneal' SubClassOf 'panniculitis' 'Panniculitis, Peritoneal' SubClassOf 'panniculitis' 'Panniculitis, Peritoneal' SubClassOf 'has_disease_location' some ('peritoneum' or ('part_of' some 'peritoneum')) 'Panniculitis, Peritoneal' SubClassOf 'participates_in' some 'inflammatory response' http://www.ebi.ac.uk/efo/EFO_0001955 heart component 'heart component' EquivalentTo 'part_of' some 'heart' http://www.ebi.ac.uk/efo/EFO_0001954 division of carotid artery 'division of carotid artery' EquivalentTo 'part_of' some 'carotid artery' http://www.ebi.ac.uk/efo/EFO_0000625 nevus 'nevus' SubClassOf 'has_disease_location' some 'zone of skin' http://www.ebi.ac.uk/efo/EFO_0001957 obsolete_knee joint 'obsolete_knee joint' SubClassOf 'obsolete class' 'obsolete_knee joint' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000626 obsolete_nucleic acid extracted 'obsolete_nucleic acid extracted' SubClassOf 'obsolete class' 'obsolete_nucleic acid extracted' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001956 obsolete_interventricular septum 'obsolete_interventricular septum' SubClassOf 'obsolete class' 'obsolete_interventricular septum' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001958 joint component 'joint component' EquivalentTo 'part_of' some 'skeletal joint' 'joint component' SubClassOf 'part_of' some 'skeletal system' http://www.orpha.net/ORDO/Orphanet_83642 Microcytic anemia with liver iron overload 'Microcytic anemia with liver iron overload' SubClassOf 'Disorder of iron metabolism and transport' 'Microcytic anemia with liver iron overload' SubClassOf 'Constitutional anemia due to iron metabolism disorder' 'Microcytic anemia with liver iron overload' SubClassOf 'Disorder of iron metabolism and transport' 'Microcytic anemia with liver iron overload' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000104 'Microcytic anemia with liver iron overload' SubClassOf 'Constitutional anemia due to iron metabolism disorder' http://purl.obolibrary.org/obo/UBERON_0003512 lung blood vessel 'lung blood vessel' SubClassOf 'blood vessel' 'lung blood vessel' EquivalentTo 'blood vessel' and ('part_of' some 'lung') 'lung blood vessel' SubClassOf http://purl.obolibrary.org/obo/UBERON_0003834 'lung blood vessel' SubClassOf http://purl.obolibrary.org/obo/UBERON_0003504 http://www.orpha.net/ORDO/Orphanet_83648 X-linked recessive intellectual disability - macrocephaly - ciliary dysfunction 'X-linked recessive intellectual disability - macrocephaly - ciliary dysfunction' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked recessive intellectual disability - macrocephaly - ciliary dysfunction' SubClassOf 'X-linked syndromic intellectual disability' http://www.ebi.ac.uk/efo/EFO_0001980 obsolete_pleura 'obsolete_pleura' SubClassOf 'obsolete class' 'obsolete_pleura' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000650 whooping cough 'whooping cough' SubClassOf 'bacterial disease' 'whooping cough' SubClassOf 'has_participant' some 'Bordetella pertussis' 'whooping cough' SubClassOf 'has_disease_location' some 'respiratory system' 'whooping cough' SubClassOf http://purl.obolibrary.org/obo/MONDO_0037872 'whooping cough' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://www.ebi.ac.uk/efo/EFO_0001982 obsolete_presomitic mesoderm 'obsolete_presomitic mesoderm' SubClassOf 'obsolete class' 'obsolete_presomitic mesoderm' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/OBI_0000697 Helicos sequencing 'Helicos sequencing' SubClassOf 'has_participant' some 'sequencer' 'Helicos sequencing' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0001981 obsolete_mesoderm 'obsolete_mesoderm' SubClassOf 'obsolete class' 'obsolete_mesoderm' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000652 obsolete_phenotypic factor 'obsolete_phenotypic factor' SubClassOf 'obsolete class' 'obsolete_phenotypic factor' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001984 obsolete_rosette leaf 'obsolete_rosette leaf' SubClassOf 'obsolete class' 'obsolete_rosette leaf' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001983 leaf component 'leaf component' EquivalentTo 'part_of' some 'leaf' http://www.ebi.ac.uk/efo/EFO_0000653 phyllodes tumor 'phyllodes tumor' SubClassOf 'neoplasm' 'phyllodes tumor' SubClassOf 'fibroepithelial neoplasm' http://www.ebi.ac.uk/efo/EFO_0001986 lung structure 'lung structure' EquivalentTo 'part_of' some 'lung' http://www.ebi.ac.uk/efo/EFO_0001985 obsolete_pulmonary alveolus 'obsolete_pulmonary alveolus' SubClassOf 'obsolete class' 'obsolete_pulmonary alveolus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001988 obsolete_lateral geniculate nucleus 'obsolete_lateral geniculate nucleus' SubClassOf 'obsolete class' 'obsolete_lateral geniculate nucleus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_262164 Partial deletion of the long arm of chromosome 20 'Partial deletion of the long arm of chromosome 20' SubClassOf 'Partial deletion of chromosome 20' 'Partial deletion of the long arm of chromosome 20' SubClassOf 'Partial deletion of chromosome 20' http://www.ebi.ac.uk/efo/EFO_0000657 obsolete_platform 'obsolete_platform' SubClassOf 'obsolete class' 'obsolete_platform' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001987 obsolete_cerebral peduncle 'obsolete_cerebral peduncle' SubClassOf 'obsolete class' 'obsolete_cerebral peduncle' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000659 obsolete_ploidy 'obsolete_ploidy' SubClassOf 'obsolete class' 'obsolete_ploidy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/CLO_0027467 GM15236 'GM15236' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM15236' SubClassOf 'cultured cell' http://www.orpha.net/ORDO/Orphanet_263494 DPM3-CDG 'DPM3-CDG' SubClassOf 'Congenital disorder of glycosylation with dilated cardiomyopathy' 'DPM3-CDG' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 'DPM3-CDG' SubClassOf 'Disorder of multiple glycosylation' 'DPM3-CDG' SubClassOf 'Congenital muscular dystrophy due to dystroglycanopathy' 'DPM3-CDG' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'DPM3-CDG' SubClassOf 'Congenital disorder of glycosylation with dilated cardiomyopathy' 'DPM3-CDG' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 'DPM3-CDG' SubClassOf 'Disorder of multiple glycosylation' 'DPM3-CDG' SubClassOf 'congenital disorder of glycosylation type I' 'DPM3-CDG' SubClassOf 'Congenital muscular dystrophy due to dystroglycanopathy' http://www.ebi.ac.uk/efo/EFO_0001971 obsolete_nucleus of terminal stria 'obsolete_nucleus of terminal stria' SubClassOf 'obsolete class' 'obsolete_nucleus of terminal stria' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000640 papillary renal cell carcinoma 'papillary renal cell carcinoma' SubClassOf 'renal cell carcinoma' 'papillary renal cell carcinoma' SubClassOf 'has_disease_location' some 'kidney' 'papillary renal cell carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002512 'papillary renal cell carcinoma' SubClassOf 'renal cell adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0001970 obsolete_myometrium 'obsolete_myometrium' SubClassOf 'obsolete class' 'obsolete_myometrium' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000641 papillary thyroid carcinoma 'papillary thyroid carcinoma' SubClassOf 'differentiated thyroid carcinoma' 'papillary thyroid carcinoma' SubClassOf 'thyroid carcinoma' 'papillary thyroid carcinoma' SubClassOf 'differentiated thyroid carcinoma' 'papillary thyroid carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024622 'papillary thyroid carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002512 'papillary thyroid carcinoma' SubClassOf 'has_disease_location' some 'thyroid gland' http://www.ebi.ac.uk/efo/EFO_0001973 obsolete_olfactory system 'obsolete_olfactory system' SubClassOf 'obsolete class' 'obsolete_olfactory system' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001972 obsolete_olfactory epithelium 'obsolete_olfactory epithelium' SubClassOf 'obsolete class' 'obsolete_olfactory epithelium' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001975 obsolete_oral cavity 'obsolete_oral cavity' SubClassOf 'obsolete class' 'obsolete_oral cavity' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001974 obsolete_optic disc 'obsolete_optic disc' SubClassOf 'obsolete class' 'obsolete_optic disc' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000645 obsolete_percent oxygen 'obsolete_percent oxygen' SubClassOf 'obsolete class' 'obsolete_percent oxygen' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001977 obsolete_palatine tonsil 'obsolete_palatine tonsil' SubClassOf 'obsolete class' 'obsolete_palatine tonsil' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/UBERON_0002282 stria vascularis of cochlear duct 'stria vascularis of cochlear duct' SubClassOf 'internal ear' 'stria vascularis of cochlear duct' SubClassOf 'internal ear' http://www.ebi.ac.uk/efo/EFO_0000646 obsolete_percent oxygen concentration 'obsolete_percent oxygen concentration' SubClassOf 'obsolete class' 'obsolete_percent oxygen concentration' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001976 obsolete_oropharynx 'obsolete_oropharynx' SubClassOf 'obsolete class' 'obsolete_oropharynx' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000647 experiment performer 'experiment performer' SubClassOf 'inheres_in' some ('Homo sapiens' and 'organization') http://www.ebi.ac.uk/efo/EFO_0001979 obsolete_plantaris muscle 'obsolete_plantaris muscle' SubClassOf 'obsolete class' 'obsolete_plantaris muscle' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_262155 Partial deletion of the long arm of chromosome 19 'Partial deletion of the long arm of chromosome 19' SubClassOf 'Partial deletion of chromosome 19' 'Partial deletion of the long arm of chromosome 19' SubClassOf 'Partial deletion of chromosome 19' http://www.ebi.ac.uk/efo/EFO_0001978 obsolete_perirhinal cortex 'obsolete_perirhinal cortex' SubClassOf 'obsolete class' 'obsolete_perirhinal cortex' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_263487 COG5-CDG 'COG5-CDG' SubClassOf 'Defect in conserved oligomeric Golgi complex' 'COG5-CDG' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'COG5-CDG' SubClassOf 'congenital disorder of glycosylation type II' 'COG5-CDG' SubClassOf 'Defect in conserved oligomeric Golgi complex' 'COG5-CDG' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' http://www.ebi.ac.uk/efo/EFO_0000649 periodontitis 'periodontitis' SubClassOf 'head and neck disorder' 'periodontitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021166 'periodontitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002635 http://purl.obolibrary.org/obo/UBERON_0002289 tectal ventricle 'tectal ventricle' SubClassOf 'brain ventricle' http://purl.obolibrary.org/obo/UBERON_0002285 telencephalic ventricle 'telencephalic ventricle' SubClassOf 'brain ventricle' 'telencephalic ventricle' SubClassOf 'brain ventricle' http://purl.obolibrary.org/obo/CHEBI_2274 7-methylguanine '7-methylguanine' SubClassOf 'chemical entity' '7-methylguanine' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_263482 Spondyloepiphyseal dysplasia, Maroteaux type 'Spondyloepiphyseal dysplasia, Maroteaux type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Spondyloepiphyseal dysplasia, Maroteaux type' SubClassOf 'TRPV4-related bone disorder' 'Spondyloepiphyseal dysplasia, Maroteaux type' SubClassOf 'CHST3-related skeletal dysplasia' 'Spondyloepiphyseal dysplasia, Maroteaux type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Spondyloepiphyseal dysplasia, Maroteaux type' SubClassOf 'Brachyolmia, Maroteaux type' 'Spondyloepiphyseal dysplasia, Maroteaux type' SubClassOf 'TRPV4-related bone disorder' http://www.ebi.ac.uk/efo/EFO_0009005 premature menopause 'premature menopause' SubClassOf 'ovarian dysfunction' 'premature menopause' SubClassOf 'ovarian dysfunction' 'premature menopause' SubClassOf 'primary ovarian insufficiency' http://www.ebi.ac.uk/efo/EFO_0009000 Mast Cell Neoplasm 'Mast Cell Neoplasm' SubClassOf 'myeloid neoplasm' 'Mast Cell Neoplasm' SubClassOf 'myeloid neoplasm' http://www.ebi.ac.uk/efo/EFO_0009001 Mastocytosis 'Mastocytosis' SubClassOf 'Mast Cell Neoplasm' 'Mastocytosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004805 'Mastocytosis' SubClassOf 'Genetic tumor of hematopoietic and lymphoid tissues' 'Mastocytosis' SubClassOf 'Mast Cell Neoplasm' http://www.ebi.ac.uk/efo/EFO_0009002 splenic disease 'splenic disease' SubClassOf 'lymphatic system disease' 'splenic disease' EquivalentTo 'has_disease_location' some ('spleen' or ('part_of' some 'spleen')) 'splenic disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044965 'splenic disease' SubClassOf 'lymphatic system disease' http://www.ebi.ac.uk/efo/EFO_0009003 ovarian dysfunction 'ovarian dysfunction' SubClassOf 'ovarian disease' 'ovarian dysfunction' SubClassOf 'ovarian disease' http://www.ebi.ac.uk/efo/EFO_0000671 obsolete_progeria syndrome 'obsolete_progeria syndrome' SubClassOf 'obsolete class' 'obsolete_progeria syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000673 prostate adenocarcinoma 'prostate adenocarcinoma' SubClassOf 'adenocarcinoma' 'prostate adenocarcinoma' SubClassOf 'prostate carcinoma' 'prostate adenocarcinoma' SubClassOf 'adenocarcinoma' 'prostate adenocarcinoma' SubClassOf 'prostate carcinoma' 'prostate adenocarcinoma' SubClassOf 'has_disease_location' some 'prostate gland' http://www.ebi.ac.uk/efo/EFO_0000674 obsolete_protocol 'obsolete_protocol' SubClassOf 'obsolete class' 'obsolete_protocol' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000675 obsolete_protocol factor 'obsolete_protocol factor' SubClassOf 'obsolete class' 'obsolete_protocol factor' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000676 psoriasis 'psoriasis' SubClassOf 'inflammatory skin disease' 'psoriasis' SubClassOf 'immune system disease' 'psoriasis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044999 'psoriasis' DisjointWith 'pityriasis rosea' 'psoriasis' SubClassOf 'has_disease_location' some 'zone of skin' 'psoriasis' SubClassOf 'inflammatory skin disease' 'psoriasis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021166 'psoriasis' SubClassOf 'immune system disease' http://www.ebi.ac.uk/efo/EFO_0000677 mental or behavioural disorder 'mental or behavioural disorder' SubClassOf 'central nervous system disease' 'mental or behavioural disorder' SubClassOf 'has_disease_location' some 'brain' 'mental or behavioural disorder' DisjointWith 'uninfected' 'mental or behavioural disorder' DisjointWith 'chronic fatigue syndrome' 'mental or behavioural disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002025 'mental or behavioural disorder' SubClassOf 'brain disease' http://www.ebi.ac.uk/efo/EFO_0000678 pterygium 'pterygium' SubClassOf 'eye disease' 'pterygium' SubClassOf 'head and neck neoplasia' 'pterygium' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021452 'pterygium' SubClassOf 'Benign Conjunctival Neoplasm' 'pterygium' SubClassOf 'has_disease_location' some 'conjunctiva' http://www.ebi.ac.uk/efo/EFO_0000679 obsolete_rat strain 'obsolete_rat strain' SubClassOf 'obsolete class' 'obsolete_rat strain' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/UBERON_0002294 biliary system 'gustatory system' DisjointWith 'biliary system' 'endocrine system' DisjointWith 'biliary system' 'circulatory system' DisjointWith 'biliary system' 'biliary system' DisjointWith 'integumental system' 'reproductive system' DisjointWith 'biliary system' 'renal system' DisjointWith 'biliary system' 'biliary system' DisjointWith 'hepatobiliary system' 'biliary system' DisjointWith 'hematopoietic system' 'biliary system' DisjointWith 'immune system' 'biliary system' DisjointWith http://purl.obolibrary.org/obo/UBERON_0002330 'digestive system' DisjointWith 'biliary system' 'nervous system' DisjointWith 'biliary system' 'skeletal system' DisjointWith 'biliary system' http://purl.obolibrary.org/obo/UBERON_0002204 DisjointWith 'biliary system' 'respiratory system' DisjointWith 'biliary system' 'biliary system' DisjointWith http://purl.obolibrary.org/obo/UBERON_0004456 http://www.orpha.net/ORDO/Orphanet_262146 Partial deletion of the long arm of chromosome 18 'Partial deletion of the long arm of chromosome 18' SubClassOf 'Partial deletion of chromosome 18' 'Partial deletion of the long arm of chromosome 18' SubClassOf 'Partial deletion of chromosome 18' http://www.ebi.ac.uk/efo/EFO_0009010 HSV2 virologic severity measurement 'HSV2 virologic severity measurement' SubClassOf 'measurement' 'HSV2 virologic severity measurement' SubClassOf 'is_about' some 'genital herpes' http://purl.obolibrary.org/obo/CLO_0027447 GM15242 'GM15242' SubClassOf 'cultured cell' 'GM15242' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/UBERON_0002298 brainstem 'brainstem' SubClassOf 'part_of' some 'brain' http://purl.obolibrary.org/obo/UBERON_0002299 alveolus of lung 'alveolus of lung' SubClassOf 'part_of' some 'lung' 'alveolus of lung' EquivalentTo 'alveolus' and ('part_of' some 'lung') http://www.orpha.net/ORDO/Orphanet_250165 Genetic polycythemia 'Genetic polycythemia' SubClassOf 'polycythemia' 'Genetic polycythemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003847 'Genetic polycythemia' SubClassOf 'polycythemia' 'Genetic polycythemia' SubClassOf 'has part' some ('has extra parts of type' and ('has component' some 'abnormal') and ('has component' some 'pathological') and ('towards' some 'erythrocyte')) 'Genetic polycythemia' EquivalentTo 'polycythemia' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) http://purl.obolibrary.org/obo/PO_0005645 leaf mesophyll 'leaf mesophyll' SubClassOf 'leaf' 'leaf mesophyll' SubClassOf 'leaf' http://www.ebi.ac.uk/efo/EFO_0001991 obsolete_superior frontal gyrus 'obsolete_superior frontal gyrus' SubClassOf 'obsolete class' 'obsolete_superior frontal gyrus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_262128 Partial deletion of the long arm of chromosome 16 'Partial deletion of the long arm of chromosome 16' SubClassOf 'Partial deletion of chromosome 16' 'Partial deletion of the long arm of chromosome 16' SubClassOf 'Partial deletion of chromosome 16' http://www.ebi.ac.uk/efo/EFO_0000660 polycystic ovary syndrome 'polycystic ovary syndrome' SubClassOf 'endocrine system disease' 'polycystic ovary syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003847 'polycystic ovary syndrome' SubClassOf 'has_disease_location' some 'female gonad' 'polycystic ovary syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'polycystic ovary syndrome' SubClassOf 'endocrine system disease' http://www.ebi.ac.uk/efo/EFO_0001990 obsolete_orbitofrontal cortex 'obsolete_orbitofrontal cortex' SubClassOf 'obsolete class' 'obsolete_orbitofrontal cortex' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000661 obsolete_polymorphonuclear leukocyte 'obsolete_polymorphonuclear leukocyte' SubClassOf 'obsolete class' 'obsolete_polymorphonuclear leukocyte' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000662 polyp 'polyp' SubClassOf 'neoplasm' 'polyp' SubClassOf 'neoplasm' http://www.ebi.ac.uk/efo/EFO_0001992 obsolete_seedling 'obsolete_seedling' SubClassOf 'obsolete class' 'obsolete_seedling' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000665 obsolete_porphyria 'obsolete_porphyria' SubClassOf 'obsolete class' 'obsolete_porphyria' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000666 portal hypertension 'portal hypertension' SubClassOf 'liver disease' 'portal hypertension' SubClassOf 'cardiovascular disease' 'portal hypertension' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002405 'portal hypertension' SubClassOf 'has_disease_location' some 'liver' http://www.ebi.ac.uk/efo/EFO_0000668 preeclampsia 'preeclampsia' SubClassOf 'hypertension' 'preeclampsia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0045048 'preeclampsia' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://www.orpha.net/ORDO/Orphanet_263463 CHST3-related skeletal dysplasia 'CHST3-related skeletal dysplasia' SubClassOf 'Primary bone dysplasia with multiple joint dislocations' 'CHST3-related skeletal dysplasia' SubClassOf 'Congenital disorder of glycosylation-related bone disorder' 'CHST3-related skeletal dysplasia' SubClassOf 'Disorder of O-xylosylglycan synthesis' 'CHST3-related skeletal dysplasia' SubClassOf 'Primary bone dysplasia with multiple joint dislocations' 'CHST3-related skeletal dysplasia' SubClassOf 'Congenital disorder of glycosylation-related bone disorder' 'CHST3-related skeletal dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000844 'CHST3-related skeletal dysplasia' SubClassOf 'Disorder of O-xylosylglycan synthesis' http://www.ebi.ac.uk/efo/EFO_0000669 obsolete_pretreatment 'obsolete_pretreatment' SubClassOf 'obsolete class' 'obsolete_pretreatment' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_262137 Partial deletion of the long arm of chromosome 17 'Partial deletion of the long arm of chromosome 17' SubClassOf 'Partial deletion of chromosome 17' 'Partial deletion of the long arm of chromosome 17' SubClassOf 'Partial deletion of chromosome 17' http://www.ebi.ac.uk/efo/EFO_0009026 Bardet-Biedl syndrome 7 'Bardet-Biedl syndrome 7' SubClassOf 'Bardet-Biedl syndrome' 'Bardet-Biedl syndrome 7' SubClassOf 'Bardet-Biedl syndrome' http://www.ebi.ac.uk/efo/EFO_0009027 Bardet-Biedl syndrome 9 'Bardet-Biedl syndrome 9' SubClassOf 'Bardet-Biedl syndrome' 'Bardet-Biedl syndrome 9' SubClassOf 'Bardet-Biedl syndrome' http://www.ebi.ac.uk/efo/EFO_0009028 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome 'Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome' SubClassOf 'Rare genetic systemic or rheumatologic disease' http://www.ebi.ac.uk/efo/EFO_0009029 Central precocious puberty 'Central precocious puberty' SubClassOf 'Anomaly of puberty or/and menstrual cycle of genetic origin' 'Central precocious puberty' SubClassOf 'Anomaly of puberty or/and menstrual cycle of genetic origin' http://www.ebi.ac.uk/efo/EFO_0009022 Bardet-Biedl syndrome 10 'Bardet-Biedl syndrome 10' SubClassOf 'Bardet-Biedl syndrome' 'Bardet-Biedl syndrome 10' SubClassOf 'Bardet-Biedl syndrome' http://www.ebi.ac.uk/efo/EFO_0009023 Bardet-Biedl syndrome 12 'Bardet-Biedl syndrome 12' SubClassOf 'Bardet-Biedl syndrome' 'Bardet-Biedl syndrome 12' SubClassOf 'Bardet-Biedl syndrome' http://www.ebi.ac.uk/efo/EFO_0000690 obsolete_sarcoidosis 'obsolete_sarcoidosis' SubClassOf 'obsolete class' 'obsolete_sarcoidosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0009024 Bardet-Biedl syndrome 4 'Bardet-Biedl syndrome 4' SubClassOf 'Bardet-Biedl syndrome' 'Bardet-Biedl syndrome 4' SubClassOf 'Bardet-Biedl syndrome' http://www.ebi.ac.uk/efo/EFO_0000691 sarcoma 'sarcoma' SubClassOf 'cancer' 'sarcoma' SubClassOf 'cancer' http://www.ebi.ac.uk/efo/EFO_0009025 Bardet-Biedl syndrome 5 'Bardet-Biedl syndrome 5' SubClassOf 'Bardet-Biedl syndrome' 'Bardet-Biedl syndrome 5' SubClassOf 'Bardet-Biedl syndrome' http://purl.obolibrary.org/obo/UBERON_2001051 caudal division of the internal carotid artery 'caudal division of the internal carotid artery' SubClassOf http://purl.obolibrary.org/obo/UBERON_0004573 'caudal division of the internal carotid artery' SubClassOf http://purl.obolibrary.org/obo/UBERON_0003496 http://www.ebi.ac.uk/efo/EFO_0000692 schizophrenia 'schizophrenia' SubClassOf 'mental or behavioural disorder' 'schizophrenia' SubClassOf 'psychosis' http://www.ebi.ac.uk/efo/EFO_0000693 schwannoma 'schwannoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016752 'schwannoma' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0024491 'schwannoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002547 'schwannoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021637 'schwannoma' SubClassOf 'central nervous system cancer' http://purl.obolibrary.org/obo/UBERON_2001053 primitive internal carotid artery 'primitive internal carotid artery' SubClassOf http://purl.obolibrary.org/obo/UBERON_0004573 http://www.ebi.ac.uk/efo/EFO_0000694 severe acute respiratory syndrome 'severe acute respiratory syndrome' SubClassOf 'viral disease' 'severe acute respiratory syndrome' SubClassOf 'respiratory system disease' 'severe acute respiratory syndrome' SubClassOf 'has_disease_location' some 'respiratory system' 'severe acute respiratory syndrome' SubClassOf 'coronavirus infectious disease' 'severe acute respiratory syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015118 http://purl.obolibrary.org/obo/UBERON_2001054 lateral dorsal aorta 'lateral dorsal aorta' SubClassOf 'artery' http://www.ebi.ac.uk/efo/EFO_0000695 obsolete_sex 'obsolete_sex' SubClassOf 'obsolete class' 'obsolete_sex' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000697 obsolete_sickle cell disease 'obsolete_sickle cell disease' SubClassOf 'obsolete class' 'obsolete_sickle cell disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000698 signet ring cell carcinoma 'signet ring cell carcinoma' SubClassOf 'carcinoma' 'signet ring cell carcinoma' SubClassOf 'adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0000699 Sjogren syndrome 'Sjogren syndrome' SubClassOf 'digestive system disease' 'Sjogren syndrome' SubClassOf 'eye disease' 'Sjogren syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002977 'Sjogren syndrome' SubClassOf 'has_disease_location' some 'saliva-secreting gland' 'Sjogren syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024625 'Sjogren syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015939 'Sjogren syndrome' SubClassOf 'salivary gland disease' 'Sjogren syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some http://purl.obolibrary.org/obo/MONDO_0019191 'Sjogren syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Sjogren syndrome' SubClassOf 'has_disease_location' some 'lacrimal gland' 'Sjogren syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000586 http://purl.obolibrary.org/obo/UBERON_2001059 cranial division of the internal carotid artery 'cranial division of the internal carotid artery' SubClassOf http://purl.obolibrary.org/obo/UBERON_0003496 'cranial division of the internal carotid artery' SubClassOf http://purl.obolibrary.org/obo/UBERON_0004573 http://www.ebi.ac.uk/efo/EFO_0009030 Cerebellar-facial-dental syndrome 'Cerebellar-facial-dental syndrome' SubClassOf 'Genetic syndrome with a cerebellar malformation as major feature' 'Cerebellar-facial-dental syndrome' SubClassOf 'Genetic syndrome with a cerebellar malformation as major feature' http://www.ebi.ac.uk/efo/EFO_0009031 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome 'Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome' SubClassOf 'Syndrome with brachydactyly' 'Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome' SubClassOf 'Syndrome with brachydactyly' http://www.ebi.ac.uk/efo/EFO_0009032 Combined oxidative phosphorylation defect type 21 'Combined oxidative phosphorylation defect type 21' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Combined oxidative phosphorylation defect type 21' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' http://www.ebi.ac.uk/efo/EFO_0009015 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome 'AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome' SubClassOf 'Rare genetic intellectual disability' 'AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome' SubClassOf 'Rare genetic intellectual disability' http://www.ebi.ac.uk/efo/EFO_0009016 Ataxia-oculomotor apraxia type 4 'Ataxia-oculomotor apraxia type 4' SubClassOf 'Autosomal recessive syndromic cerebellar ataxia' 'Ataxia-oculomotor apraxia type 4' SubClassOf 'Autosomal recessive syndromic cerebellar ataxia' http://www.ebi.ac.uk/efo/EFO_0009017 Autosomal recessive spastic paraplegia type 57 'Autosomal recessive spastic paraplegia type 57' SubClassOf 'Spastic paraplegia-optic atrophy-neuropathy syndrome' 'Autosomal recessive spastic paraplegia type 57' SubClassOf 'Spastic paraplegia-optic atrophy-neuropathy syndrome' http://www.ebi.ac.uk/efo/EFO_0009018 Autosomal recessive spastic paraplegia type 75 'Autosomal recessive spastic paraplegia type 75' SubClassOf 'Spastic paraplegia-optic atrophy-neuropathy syndrome' 'Autosomal recessive spastic paraplegia type 75' SubClassOf 'Spastic paraplegia-optic atrophy-neuropathy syndrome' http://www.ebi.ac.uk/efo/EFO_0009011 Arteritis 'Arteritis' SubClassOf 'vasculitis' 'Arteritis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000473 'Arteritis' SubClassOf 'has_disease_location' some ('artery' or ('part_of' some 'artery')) 'Arteritis' SubClassOf 'vasculitis' http://www.ebi.ac.uk/efo/EFO_0009012 Polyarteritis Nodosa 'Polyarteritis Nodosa' SubClassOf 'has_disease_location' some ('heart' or ('part_of' some 'heart')) 'Polyarteritis Nodosa' SubClassOf 'has_disease_location' some ('zone of skin' or ('part_of' some 'zone of skin')) 'Polyarteritis Nodosa' SubClassOf 'has_disease_location' some ('peripheral nervous system' or ('part_of' some 'peripheral nervous system')) 'Polyarteritis Nodosa' SubClassOf 'has_disease_location' some ('kidney' or ('part_of' some 'kidney')) http://www.ebi.ac.uk/efo/EFO_0009014 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia '3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia' SubClassOf '3-methylglutaconic aciduria' '3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia' SubClassOf '3-methylglutaconic aciduria' http://purl.obolibrary.org/obo/CLO_0027491 GM15216 'GM15216' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM15216' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0000681 renal cell carcinoma 'renal cell carcinoma' SubClassOf 'renal carcinoma' 'renal cell carcinoma' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'renal cell carcinoma' SubClassOf 'adenocarcinoma' 'renal cell carcinoma' SubClassOf 'renal carcinoma' http://www.ebi.ac.uk/efo/EFO_0000682 obsolete_renal clear cell carcinoma 'obsolete_renal clear cell carcinoma' SubClassOf 'obsolete class' 'obsolete_renal clear cell carcinoma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000684 respiratory system disease 'respiratory system disease' SubClassOf 'disease' 'respiratory system disease' DisjointWith 'uninfected' 'respiratory system disease' EquivalentTo 'disease' and ('has_disease_location' some ('respiratory system' or ('part_of' some 'respiratory system'))) 'respiratory system disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021199 'respiratory system disease' SubClassOf 'has_disease_location' some 'respiratory system' http://www.ebi.ac.uk/efo/EFO_0000685 rheumatoid arthritis 'rheumatoid arthritis' SubClassOf 'arthritis' 'rheumatoid arthritis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000589 'rheumatoid arthritis' SubClassOf 'arthritis' 'rheumatoid arthritis' SubClassOf 'has_disease_location' some 'skeletal joint' http://www.ebi.ac.uk/efo/EFO_0009019 Autosomal recessive spastic paraplegia type 76 'Autosomal recessive spastic paraplegia type 76' SubClassOf 'Spastic paraplegia-optic atrophy-neuropathy syndrome' 'Autosomal recessive spastic paraplegia type 76' SubClassOf 'Spastic paraplegia-optic atrophy-neuropathy syndrome' http://www.ebi.ac.uk/efo/EFO_0000687 obsolete_sample factor 'obsolete_sample factor' SubClassOf 'obsolete class' 'obsolete_sample factor' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/UBERON_0002240 spinal cord 'spinal cord' SubClassOf 'part_of' some 'dorsum' 'spinal cord' SubClassOf 'develops_from' some 'primordium' 'spinal cord' SubClassOf 'develops_from' some 'nervous system' 'spinal cord' SubClassOf 'develops_from' some 'neural rod' 'spinal cord' SubClassOf 'part_of' some 'central nervous system' 'spinal cord' SubClassOf 'immediate_transformation_of' some 'future spinal cord' http://purl.obolibrary.org/obo/CLO_0027493 GM15213 'GM15213' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM15213' SubClassOf 'cultured cell' http://purl.obolibrary.org/obo/CLO_0027492 GM15215 'GM15215' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM15215' SubClassOf 'cultured cell' http://purl.obolibrary.org/obo/UBERON_0002245 cerebellar hemisphere 'cerebellar hemisphere' SubClassOf 'part_of' some 'cerebellum' 'cerebellar hemisphere' SubClassOf 'in_lateral_side_of' some 'cerebellum' http://www.ebi.ac.uk/efo/EFO_0009020 Aymé-Gripp syndrome 'Aymé-Gripp syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Aymé-Gripp syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_262191 Partial duplication of chromosome 1 'Partial duplication of chromosome 1' SubClassOf 'Partial autosomal trisomy/tetrasomy' 'Partial duplication of chromosome 1' SubClassOf 'Partial autosomal trisomy/tetrasomy' http://www.ebi.ac.uk/efo/EFO_0009021 Bardet-Biedl syndrome 1 'Bardet-Biedl syndrome 1' SubClassOf 'Bardet-Biedl syndrome' 'Bardet-Biedl syndrome 1' SubClassOf 'Bardet-Biedl syndrome' http://www.orpha.net/ORDO/Orphanet_262196 Partial duplication of chromosome 2 'Partial duplication of chromosome 2' SubClassOf 'Partial autosomal trisomy/tetrasomy' 'Partial duplication of chromosome 2' SubClassOf 'Partial autosomal trisomy/tetrasomy' http://www.ebi.ac.uk/efo/EFO_0009048 Intrahepatic cholestasis of pregnancy 'Intrahepatic cholestasis of pregnancy' SubClassOf 'Rare metabolic liver disease' 'Intrahepatic cholestasis of pregnancy' SubClassOf 'Rare metabolic liver disease' http://www.ebi.ac.uk/efo/EFO_0009049 Juvenile nephropathic cystinosis 'Juvenile nephropathic cystinosis' SubClassOf 'Cystinosis' 'Juvenile nephropathic cystinosis' SubClassOf 'Cystinosis' http://www.ebi.ac.uk/efo/EFO_0009044 Fanconi anemia complementation group A 'Fanconi anemia complementation group A' SubClassOf 'Fanconi anemia' 'Fanconi anemia complementation group A' SubClassOf 'Fanconi anemia' http://www.ebi.ac.uk/efo/EFO_0009045 Fanconi anemia complementation group F 'Fanconi anemia complementation group F' SubClassOf 'Fanconi anemia' 'Fanconi anemia complementation group F' SubClassOf 'Fanconi anemia' http://www.ebi.ac.uk/efo/EFO_0009046 Fanconi anemia complementation group G 'Fanconi anemia complementation group G' SubClassOf 'Fanconi anemia' 'Fanconi anemia complementation group G' SubClassOf 'Fanconi anemia' http://www.ebi.ac.uk/efo/EFO_0009047 Hyperpigmentation of the skin 'Hyperpigmentation of the skin' SubClassOf 'abnormality of the skin' 'Hyperpigmentation of the skin' SubClassOf 'abnormality of the skin' http://purl.obolibrary.org/obo/CLO_0027487 GM15221 'GM15221' SubClassOf 'cultured cell' 'GM15221' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/CLO_0027486 GM15226 'GM15226' SubClassOf 'cultured cell' 'GM15226' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/UBERON_0002250 popliteal artery 'popliteal artery' SubClassOf 'artery' 'popliteal artery' SubClassOf http://purl.obolibrary.org/obo/UBERON_0004573 http://purl.obolibrary.org/obo/CLO_0027484 GM15224 'GM15224' SubClassOf 'cultured cell' 'GM15224' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/CLO_0027483 GM15223 'GM15223' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM15223' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0009051 Non-immune hydrops fetalis 'Non-immune hydrops fetalis' SubClassOf 'abnormality of metabolism/homeostasis' 'Non-immune hydrops fetalis' SubClassOf 'abnormality of metabolism/homeostasis' http://www.ebi.ac.uk/efo/EFO_0009052 Pleuropulmonary blastoma 'Pleuropulmonary blastoma' SubClassOf 'respiratory system neoplasm' 'Pleuropulmonary blastoma' SubClassOf 'respiratory system neoplasm' http://www.ebi.ac.uk/efo/EFO_0009053 Primary progressive aphasia 'Primary progressive aphasia' SubClassOf 'neurodegenerative disease' 'Primary progressive aphasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020136 'Primary progressive aphasia' SubClassOf 'neurodegenerative disease' http://www.ebi.ac.uk/efo/EFO_0009054 Pulmonary arterial hypertension associated with congenital heart disease 'Pulmonary arterial hypertension associated with congenital heart disease' SubClassOf 'Pulmonary arterial hypertension associated with another disease' 'Pulmonary arterial hypertension associated with congenital heart disease' SubClassOf 'Pulmonary arterial hypertension associated with another disease' http://www.orpha.net/ORDO/Orphanet_262182 Partial deletion of the long arm of chromosome 22 'Partial deletion of the long arm of chromosome 22' SubClassOf 'Partial autosomal monosomy' 'Partial deletion of the long arm of chromosome 22' SubClassOf 'Partial autosomal monosomy' http://purl.obolibrary.org/obo/UBERON_0002255 vomeronasal organ 'vomeronasal organ' SubClassOf 'develops_from' some 'olfactory placode' 'vomeronasal organ' SubClassOf 'part_of' some 'olfactory apparatus' 'vomeronasal organ' SubClassOf 'part_of' some 'olfactory system' 'vomeronasal organ' SubClassOf 'part_of' some 'sensory system' http://www.ebi.ac.uk/efo/EFO_0009050 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome 'Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.ebi.ac.uk/efo/EFO_0009037 Combined oxidative phosphorylation defect type 27 'Combined oxidative phosphorylation defect type 27' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Combined oxidative phosphorylation defect type 27' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' http://www.ebi.ac.uk/efo/EFO_0009038 Combined oxidative phosphorylation defect type 30 'Combined oxidative phosphorylation defect type 30' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Combined oxidative phosphorylation defect type 30' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' http://www.ebi.ac.uk/efo/EFO_0009039 Congenital bile acid synthesis defect 'Congenital bile acid synthesis defect' SubClassOf 'Bile acid synthesis defect with cholestasis and malabsorption' 'Congenital bile acid synthesis defect' SubClassOf 'Bile acid synthesis defect with cholestasis and malabsorption' 'Congenital bile acid synthesis defect' SubClassOf 'steroid inherited metabolic disorder' http://www.ebi.ac.uk/efo/EFO_0009033 Combined oxidative phosphorylation defect type 23 'Combined oxidative phosphorylation defect type 23' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Combined oxidative phosphorylation defect type 23' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' http://www.ebi.ac.uk/efo/EFO_0009034 Combined oxidative phosphorylation defect type 24 'Combined oxidative phosphorylation defect type 24' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Combined oxidative phosphorylation defect type 24' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' http://www.ebi.ac.uk/efo/EFO_0009035 Combined oxidative phosphorylation defect type 25 'Combined oxidative phosphorylation defect type 25' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Combined oxidative phosphorylation defect type 25' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' http://www.ebi.ac.uk/efo/EFO_0009036 Combined oxidative phosphorylation defect type 26 'Combined oxidative phosphorylation defect type 26' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Combined oxidative phosphorylation defect type 26' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' http://www.ebi.ac.uk/efo/EFO_1001303 Deltaretrovirus Infections 'Deltaretrovirus Infections' SubClassOf 'viral disease' 'Deltaretrovirus Infections' SubClassOf 'viral disease' http://www.ebi.ac.uk/efo/EFO_1001302 Cytomegalovirus Retinitis 'Cytomegalovirus Retinitis' SubClassOf 'viral disease' 'Cytomegalovirus Retinitis' SubClassOf 'eye disease' 'Cytomegalovirus Retinitis' SubClassOf 'has_disease_location' some ('eye' or ('part_of' some 'eye')) 'Cytomegalovirus Retinitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002708 'Cytomegalovirus Retinitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016047 'Cytomegalovirus Retinitis' SubClassOf 'viral disease' 'Cytomegalovirus Retinitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020950 'Cytomegalovirus Retinitis' SubClassOf 'cytomegalovirus infection' http://www.orpha.net/ORDO/Orphanet_95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency 'Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency' SubClassOf '46,XX disorder of sex development induced by fetal androgens excess' 'Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency' SubClassOf '46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect' 'Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency' SubClassOf 'Congenital adrenal hyperplasia' 'Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency' SubClassOf '46,XX disorder of sex development induced by fetal androgens excess' 'Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency' SubClassOf '46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect' 'Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency' SubClassOf 'Rare syndromic dyslipidemia' 'Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency' SubClassOf 'Congenital adrenal hyperplasia' http://www.ebi.ac.uk/efo/EFO_1001301 Cubital Tunnel Syndrome 'Cubital Tunnel Syndrome' SubClassOf 'nervous system disease' 'Cubital Tunnel Syndrome' SubClassOf 'nervous system disease' http://www.ebi.ac.uk/efo/EFO_1001300 Cryptogenic Organizing Pneumonia 'Cryptogenic Organizing Pneumonia' SubClassOf 'pneumonia' 'Cryptogenic Organizing Pneumonia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002429 'Cryptogenic Organizing Pneumonia' SubClassOf 'pneumonia' 'Cryptogenic Organizing Pneumonia' SubClassOf 'pneumonitis' http://www.orpha.net/ORDO/Orphanet_324585 Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain 'Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain' SubClassOf 'Autosomal dominant intermediate Charcot-Marie-Tooth disease' 'Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain' SubClassOf 'Autosomal dominant intermediate Charcot-Marie-Tooth disease' http://www.ebi.ac.uk/efo/EFO_1001309 Encephalitis, Tick-Borne 'Encephalitis, Tick-Borne' SubClassOf 'encephalomyelitis' 'Encephalitis, Tick-Borne' SubClassOf http://purl.obolibrary.org/obo/MONDO_0025294 'Encephalitis, Tick-Borne' SubClassOf 'Flaviviridae infectious disease' 'Encephalitis, Tick-Borne' SubClassOf 'encephalomyelitis' 'Encephalitis, Tick-Borne' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015659 'Encephalitis, Tick-Borne' SubClassOf 'viral encephalitis' http://www.orpha.net/ORDO/Orphanet_324588 Familial dyskinesia and facial myokymia 'Familial dyskinesia and facial myokymia' SubClassOf 'Rare paroxysmal movement disorder' 'Familial dyskinesia and facial myokymia' SubClassOf 'Rare paroxysmal movement disorder' http://www.ebi.ac.uk/efo/EFO_1001308 Embolism, Paradoxical 'Embolism, Paradoxical' SubClassOf 'vascular disease' 'Embolism, Paradoxical' SubClassOf 'vascular disease' http://purl.obolibrary.org/obo/CLO_0027473 GM15227 'GM15227' SubClassOf 'cultured cell' 'GM15227' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_1001307 dumping syndrome 'dumping syndrome' SubClassOf 'digestive system disease' 'dumping syndrome' SubClassOf 'digestive system disease' 'dumping syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'dumping syndrome' SubClassOf 'has_disease_location' some ('jejunum' or ('part_of' some 'jejunum')) 'dumping syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004566 http://www.ebi.ac.uk/efo/EFO_1001306 Diarrhea, Infantile 'Diarrhea, Infantile' SubClassOf 'diarrhea' 'Diarrhea, Infantile' SubClassOf 'diarrhea' http://www.orpha.net/ORDO/Orphanet_324581 Benign Samaritan congenital myopathy 'Benign Samaritan congenital myopathy' SubClassOf 'Congenital myopathy' 'Benign Samaritan congenital myopathy' SubClassOf 'Congenital myopathy' http://www.ebi.ac.uk/efo/EFO_1001305 Dermatitis, Perioral 'Dermatitis, Perioral' SubClassOf 'facial dermatosis' 'Dermatitis, Perioral' SubClassOf 'facial dermatosis' 'Dermatitis, Perioral' SubClassOf 'has_disease_location' some ('zone of skin' or ('part_of' some 'zone of skin')) http://www.ebi.ac.uk/efo/EFO_1001304 Dental enamel hypoplasia 'Dental enamel hypoplasia' SubClassOf 'mouth disease' 'Dental enamel hypoplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002220 'Dental enamel hypoplasia' SubClassOf 'mouth disease' http://www.ebi.ac.uk/efo/EFO_0009040 Cranio-cervical dystonia with laryngeal and upper-limb involvement 'Cranio-cervical dystonia with laryngeal and upper-limb involvement' SubClassOf 'Focal, segmental or multifocal dystonia' 'Cranio-cervical dystonia with laryngeal and upper-limb involvement' SubClassOf 'Focal, segmental or multifocal dystonia' http://www.ebi.ac.uk/efo/EFO_0009041 Cushing syndrome due to macronodular adrenal hyperplasia 'Cushing syndrome due to macronodular adrenal hyperplasia' SubClassOf 'Cushing syndrome' 'Cushing syndrome due to macronodular adrenal hyperplasia' SubClassOf 'Cushing syndrome' http://www.ebi.ac.uk/efo/EFO_0009042 Estrogen resistance syndrome 'Estrogen resistance syndrome' SubClassOf 'Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin' 'Estrogen resistance syndrome' SubClassOf 'Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin' http://www.ebi.ac.uk/efo/EFO_0009043 Familial porphyria cutanea tarda 'Familial porphyria cutanea tarda' SubClassOf 'Porphyria cutanea tarda' 'Familial porphyria cutanea tarda' SubClassOf 'Genodermatosis with ocular features' 'Familial porphyria cutanea tarda' SubClassOf 'Chronic hepatic porphyria' 'Familial porphyria cutanea tarda' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002406 'Familial porphyria cutanea tarda' SubClassOf 'Porphyria cutanea tarda' 'Familial porphyria cutanea tarda' EquivalentTo 'Porphyria cutanea tarda' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) http://www.orpha.net/ORDO/Orphanet_262173 Partial deletion of the long arm of chromosome 21 'Partial deletion of the long arm of chromosome 21' SubClassOf 'Partial autosomal monosomy' 'Partial deletion of the long arm of chromosome 21' SubClassOf 'Partial autosomal monosomy' http://www.orpha.net/ORDO/Orphanet_227796 Fundus albipunctatus 'Fundus albipunctatus' SubClassOf 'Familial flecked retinopathy' 'Fundus albipunctatus' SubClassOf 'Familial flecked retinopathy' http://purl.obolibrary.org/obo/CHEBI_4836 amphiprotic solvent role 'amphiprotic solvent role' SubClassOf 'inheres_in' some 'chemical entity' http://purl.obolibrary.org/obo/MP_0003254 obsolete_bile duct inflammation 'obsolete_bile duct inflammation' SubClassOf 'obsolete class' 'obsolete_bile duct inflammation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_263410 Infantile spams - psychomotor retardation - progressive brain atrophy - basal ganglia disease 'Infantile spams - psychomotor retardation - progressive brain atrophy - basal ganglia disease' SubClassOf 'Disorder of thiamine metabolism and transport' 'Infantile spams - psychomotor retardation - progressive brain atrophy - basal ganglia disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Infantile spams - psychomotor retardation - progressive brain atrophy - basal ganglia disease' SubClassOf 'Disorder of thiamine metabolism and transport' http://purl.obolibrary.org/obo/CHEBI_3515 cefuroxime 'cefuroxime' SubClassOf 'has_role' some 'antimicrobial agent' http://www.orpha.net/ORDO/Orphanet_238455 Infantile dystonia-parkinsonism 'Infantile dystonia-parkinsonism' SubClassOf 'Persistent combined dystonia' 'Infantile dystonia-parkinsonism' SubClassOf 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' 'Infantile dystonia-parkinsonism' SubClassOf 'Persistent combined dystonia' 'Infantile dystonia-parkinsonism' SubClassOf 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' 'Infantile dystonia-parkinsonism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 http://www.orpha.net/ORDO/Orphanet_238459 SLC35A1-CDG 'SLC35A1-CDG' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' 'SLC35A1-CDG' SubClassOf 'Congenital disorder of glycosylation with nephropathy as a major feature' 'SLC35A1-CDG' SubClassOf 'Disorder of multiple glycosylation' 'SLC35A1-CDG' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'SLC35A1-CDG' SubClassOf 'congenital disorder of glycosylation type II' 'SLC35A1-CDG' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' 'SLC35A1-CDG' SubClassOf 'Congenital disorder of glycosylation with nephropathy as a major feature' 'SLC35A1-CDG' SubClassOf 'Disorder of multiple glycosylation' 'SLC35A1-CDG' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' http://www.orpha.net/ORDO/Orphanet_225123 Hemochromatosis type 3 'Hemochromatosis type 3' SubClassOf http://purl.obolibrary.org/obo/MONDO_0006507 'Hemochromatosis type 3' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://www.orpha.net/ORDO/Orphanet_227786 Familial flecked retinopathy 'Familial flecked retinopathy' SubClassOf 'Genetic macular dystrophy' 'Familial flecked retinopathy' SubClassOf 'Genetic macular dystrophy' http://purl.obolibrary.org/obo/DOID_0050890 synucleinopathy 'synucleinopathy' SubClassOf 'neurodegenerative disease' 'synucleinopathy' SubClassOf 'neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_238468 Hypohidrotic ectodermal dysplasia 'Hypohidrotic ectodermal dysplasia' SubClassOf 'Congenital alacrima' 'Hypohidrotic ectodermal dysplasia' SubClassOf 'Ectodermal dysplasia syndrome' 'Hypohidrotic ectodermal dysplasia' SubClassOf 'Congenital alacrima' 'Hypohidrotic ectodermal dysplasia' SubClassOf 'Ectodermal dysplasia syndrome' 'Hypohidrotic ectodermal dysplasia' SubClassOf 'head and neck neoplasia' 'Hypohidrotic ectodermal dysplasia' SubClassOf 'neoplasm' 'Hypohidrotic ectodermal dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020014 'Hypohidrotic ectodermal dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 http://www.orpha.net/ORDO/Orphanet_225154 Familial infantile bilateral striatal necrosis 'Familial infantile bilateral striatal necrosis' SubClassOf 'Infantile bilateral striatal necrosis' 'Familial infantile bilateral striatal necrosis' SubClassOf 'Infantile bilateral striatal necrosis' 'Familial infantile bilateral striatal necrosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Familial infantile bilateral striatal necrosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003122 'Familial infantile bilateral striatal necrosis' EquivalentTo 'Infantile bilateral striatal necrosis' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) 'Familial infantile bilateral striatal necrosis' SubClassOf 'Miscellaneous movement disorder due to genetic neurodegenerative disease' 'Familial infantile bilateral striatal necrosis' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' http://purl.obolibrary.org/obo/CHEBI_100241 ciprofloxacin 'ciprofloxacin' SubClassOf 'has_role' some 'antibacterial drug' http://purl.obolibrary.org/obo/CHEBI_81244 hyocholic acid 'hyocholic acid' SubClassOf 'acid' 'hyocholic acid' SubClassOf 'acid' http://purl.obolibrary.org/obo/CHEBI_100246 norfloxacin 'norfloxacin' SubClassOf 'has_role' some 'antibacterial drug' 'norfloxacin' SubClassOf 'has_role' some 'DNA synthesis inhibitor' http://www.orpha.net/ORDO/Orphanet_225147 Sporadic infantile bilateral striatal necrosis 'Sporadic infantile bilateral striatal necrosis' SubClassOf 'Infantile bilateral striatal necrosis' 'Sporadic infantile bilateral striatal necrosis' SubClassOf 'Familial infantile bilateral striatal necrosis' 'Sporadic infantile bilateral striatal necrosis' SubClassOf 'Infantile bilateral striatal necrosis' http://www.orpha.net/ORDO/Orphanet_240760 Nijmegen breakage syndrome-like disorder 'Nijmegen breakage syndrome-like disorder' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Nijmegen breakage syndrome-like disorder' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Nijmegen breakage syndrome-like disorder' SubClassOf 'DNA repair defect other than combined T-cell and B-cell immunodeficiencies' 'Nijmegen breakage syndrome-like disorder' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Nijmegen breakage syndrome-like disorder' SubClassOf 'Inborn errors of metabolism' 'Nijmegen breakage syndrome-like disorder' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Nijmegen breakage syndrome-like disorder' SubClassOf 'Developmental anomaly of metabolic origin' 'Nijmegen breakage syndrome-like disorder' SubClassOf 'DNA repair defect other than combined T-cell and B-cell immunodeficiencies' http://www.orpha.net/ORDO/Orphanet_238446 15q11q13 microduplication syndrome '15q11q13 microduplication syndrome' SubClassOf 'Partial duplication of the long arm of chromosome 15' '15q11q13 microduplication syndrome' SubClassOf 'Partial duplication of the long arm of chromosome 15' '15q11q13 microduplication syndrome' SubClassOf 'autism' '15q11q13 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000762 '15q11q13 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 '15q11q13 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015652 http://www.orpha.net/ORDO/Orphanet_1581 Non-distal monosomy 10q 'Non-distal monosomy 10q' SubClassOf 'Partial monosomy of the long arm of chromosome 10' 'Non-distal monosomy 10q' SubClassOf 'Partial monosomy of the long arm of chromosome 10' http://www.orpha.net/ORDO/Orphanet_1580 Distal monosomy 10p 'Distal monosomy 10p' SubClassOf 'Partial deletion of the short arm of chromosome 10' 'Distal monosomy 10p' SubClassOf 'Partial deletion of the short arm of chromosome 10' http://www.orpha.net/ORDO/Orphanet_262119 Partial deletion of the long arm of chromosome 15 'Partial deletion of the long arm of chromosome 15' SubClassOf 'Partial autosomal monosomy' 'Partial deletion of the long arm of chromosome 15' SubClassOf 'Partial autosomal monosomy' http://purl.obolibrary.org/obo/CHEBI_32389 all-cis-octadeca-6,9,12,15-tetraenoic acid 'all-cis-octadeca-6,9,12,15-tetraenoic acid' SubClassOf 'lipid' 'all-cis-octadeca-6,9,12,15-tetraenoic acid' SubClassOf 'lipid' http://purl.obolibrary.org/obo/HP_0003236 Elevated serum creatine phosphokinase 'Elevated serum creatine phosphokinase' SubClassOf 'Abnormality of nitrogen compound homeostasis' 'Elevated serum creatine phosphokinase' SubClassOf 'Abnormality of nitrogen compound homeostasis' http://purl.obolibrary.org/obo/CHEBI_32387 alpha-linolenate 'alpha-linolenate' SubClassOf 'lipid' 'alpha-linolenate' SubClassOf 'lipid' http://www.orpha.net/ORDO/Orphanet_263455 Hyperinsulinism due to HNF4A deficiency 'Hyperinsulinism due to HNF4A deficiency' SubClassOf 'Diazoxide-sensitive diffuse hyperinsulinism' 'Hyperinsulinism due to HNF4A deficiency' SubClassOf 'Diazoxide-sensitive diffuse hyperinsulinism' http://www.orpha.net/ORDO/Orphanet_178382 Congenital vertical talus 'Congenital vertical talus' SubClassOf 'Congenital deformities of limbs' 'Congenital vertical talus' SubClassOf 'Congenital deformities of limbs' http://www.orpha.net/ORDO/Orphanet_263458 Hyperinsulinism due to INSR deficiency 'Hyperinsulinism due to INSR deficiency' SubClassOf 'Familial hyperinsulinism' 'Hyperinsulinism due to INSR deficiency' SubClassOf 'hyperinsulinemic hypoglycemia' 'Hyperinsulinism due to INSR deficiency' SubClassOf 'Familial hyperinsulinism' http://www.orpha.net/ORDO/Orphanet_178389 Osteopetrosis - hypogammaglobulinemia 'Osteopetrosis - hypogammaglobulinemia' SubClassOf 'Osteopetrosis' 'Osteopetrosis - hypogammaglobulinemia' SubClassOf 'Other immunodeficiency syndrome with predominantly antibody defects' 'Osteopetrosis - hypogammaglobulinemia' SubClassOf 'Autosomal recessive malignant osteopetrosis' 'Osteopetrosis - hypogammaglobulinemia' SubClassOf 'Other immunodeficiency syndrome with predominantly antibody defects' http://www.orpha.net/ORDO/Orphanet_1590 Distal monosomy 13q 'Distal monosomy 13q' SubClassOf 'Syndromic anorectal malformation' 'Distal monosomy 13q' SubClassOf 'Partial deletion of the long arm of chromosome 13' 'Distal monosomy 13q' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020226 'Distal monosomy 13q' SubClassOf 'Syndromic anorectal malformation' 'Distal monosomy 13q' SubClassOf 'Partial deletion of the long arm of chromosome 13' http://www.orpha.net/ORDO/Orphanet_1598 Monosomy 18p 'Monosomy 18p' SubClassOf 'Partial deletion of the short arm of chromosome 18' 'Monosomy 18p' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000761 'Monosomy 18p' SubClassOf 'Partial deletion of the short arm of chromosome 18' 'Monosomy 18p' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020226 http://purl.obolibrary.org/obo/CHEBI_4806 epigallocatechin gallate 'epigallocatechin gallate' SubClassOf 'has_role' some 'antineoplastic agent' http://www.orpha.net/ORDO/Orphanet_1597 Distal monosomy 17q 'Distal monosomy 17q' SubClassOf 'Partial deletion of the long arm of chromosome 17' 'Distal monosomy 17q' SubClassOf 'Partial deletion of the long arm of chromosome 17' http://www.orpha.net/ORDO/Orphanet_263440 Neuroacanthocytosis 'Neuroacanthocytosis' SubClassOf 'Huntington disease-like syndrome' 'Neuroacanthocytosis' SubClassOf 'Miscellaneous movement disorder due to genetic neurodegenerative disease' 'Neuroacanthocytosis' SubClassOf 'Genetic neurodegenerative disease with dementia' 'Neuroacanthocytosis' SubClassOf 'Huntington disease-like syndrome' 'Neuroacanthocytosis' SubClassOf 'Miscellaneous movement disorder due to genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_178396 Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation 'Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation' SubClassOf 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' 'Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation' SubClassOf 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' http://www.orpha.net/ORDO/Orphanet_262110 Partial deletion of the long arm of chromosome 14 'Partial deletion of the long arm of chromosome 14' SubClassOf 'Partial autosomal monosomy' 'Partial deletion of the long arm of chromosome 14' SubClassOf 'Partial autosomal monosomy' http://purl.obolibrary.org/obo/CHEBI_32395 arachidonate 'arachidonate' SubClassOf 'lipid' 'arachidonate' SubClassOf 'lipid' http://purl.obolibrary.org/obo/CHEBI_32393 erucate 'erucate' SubClassOf 'lipid' 'erucate' SubClassOf 'lipid' http://purl.obolibrary.org/obo/CHEBI_32391 gamma-linolenate 'gamma-linolenate' SubClassOf 'lipid' 'gamma-linolenate' SubClassOf 'lipid' http://purl.obolibrary.org/obo/PO_0003015 primary root differentiation zone 'primary root differentiation zone' SubClassOf 'primary root' 'primary root differentiation zone' SubClassOf 'primary root' http://www.orpha.net/ORDO/Orphanet_178364 Syndromic microphthalmia type 5 'Syndromic microphthalmia type 5' SubClassOf 'Syndromic microphthalmia' 'Syndromic microphthalmia type 5' SubClassOf 'Syndromic microphthalmia' http://www.orpha.net/ORDO/Orphanet_238475 Familial hypercholanemia 'Familial hypercholanemia' SubClassOf 'Bile acid synthesis defect with cholestasis and malabsorption' 'Familial hypercholanemia' SubClassOf 'Bile acid synthesis defect with cholestasis and malabsorption' http://purl.obolibrary.org/obo/CHEBI_32366 margarate 'margarate' SubClassOf 'lipid' 'margarate' SubClassOf 'lipid' http://www.orpha.net/ORDO/Orphanet_262101 Partial deletion of the long arm of chromosome 13 'Partial deletion of the long arm of chromosome 13' SubClassOf 'Partial autosomal monosomy' 'Partial deletion of the long arm of chromosome 13' SubClassOf 'Partial autosomal monosomy' http://purl.obolibrary.org/obo/CHEBI_32362 heptanoate 'heptanoate' SubClassOf 'lipid' 'heptanoate' SubClassOf 'lipid' http://purl.obolibrary.org/obo/CHEBI_58994 (+)-catechin monohydrate '(+)-catechin monohydrate' SubClassOf 'has_role' some 'antioxidant' http://purl.obolibrary.org/obo/CHEBI_32360 arachidate 'arachidate' SubClassOf 'lipid' 'arachidate' SubClassOf 'lipid' http://purl.obolibrary.org/obo/CHEBI_18095 trans-4-hydroxy-L-proline 'trans-4-hydroxy-L-proline' SubClassOf 'amino acid' 'trans-4-hydroxy-L-proline' SubClassOf 'amino acid' http://purl.obolibrary.org/obo/CHEBI_44337 N-acetyl-L-glutamate(2-) 'N-acetyl-L-glutamate(2-)' SubClassOf 'chemical entity' 'N-acetyl-L-glutamate(2-)' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_263417 Bartter syndrome with hypocalcemia 'Bartter syndrome with hypocalcemia' SubClassOf 'Syndrome with hypoparathyroidism' 'Bartter syndrome with hypocalcemia' SubClassOf 'Bartter syndrome' 'Bartter syndrome with hypocalcemia' SubClassOf 'Syndrome with hypoparathyroidism' 'Bartter syndrome with hypocalcemia' SubClassOf 'Bartter syndrome' http://www.geneontology.org/formats/oboInOwl#ObsoleteClass obsolete class 'obsolete class' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/CHEBI_4828 ergothioneine 'ergothioneine' SubClassOf 'amino acid' 'ergothioneine' SubClassOf 'amino acid' http://purl.obolibrary.org/obo/CHEBI_32372 palmitoleate 'palmitoleate' SubClassOf 'lipid' 'palmitoleate' SubClassOf 'lipid' http://purl.obolibrary.org/obo/OBI_0000724 Illumina sequencing 'Illumina sequencing' SubClassOf 'has_participant' some 'sequencer' 'Illumina sequencing' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://purl.obolibrary.org/obo/CHEBI_32370 myristoleate 'myristoleate' SubClassOf 'lipid' 'myristoleate' SubClassOf 'lipid' http://purl.obolibrary.org/obo/PO_0003023 root nodule 'root nodule' SubClassOf 'part_of' some 'root structure' http://www.orpha.net/ORDO/Orphanet_178377 Osteosclerosis-developmental delay-craniosynostosis syndrome 'Osteosclerosis-developmental delay-craniosynostosis syndrome' SubClassOf 'Syndromic craniosynostosis' 'Osteosclerosis-developmental delay-craniosynostosis syndrome' SubClassOf 'Syndromic craniosynostosis' http://www.ebi.ac.uk/efo/EFO_1001273 obsolete_Birt-Hogg-Dube Syndrome 'obsolete_Birt-Hogg-Dube Syndrome' SubClassOf 'obsolete class' 'obsolete_Birt-Hogg-Dube Syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2871 Pfeiffer-Palm-Teller syndrome 'Pfeiffer-Palm-Teller syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Pfeiffer-Palm-Teller syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Pfeiffer-Palm-Teller syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Pfeiffer-Palm-Teller syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 http://www.ebi.ac.uk/efo/EFO_1001272 bacterial pneumonia 'bacterial pneumonia' SubClassOf 'pneumonia' 'bacterial pneumonia' SubClassOf 'bacterial disease' 'bacterial pneumonia' SubClassOf 'pneumonia' http://www.orpha.net/ORDO/Orphanet_1540 Jackson-Weiss syndrome 'Jackson-Weiss syndrome' SubClassOf 'Syndromic craniosynostosis' 'Jackson-Weiss syndrome' SubClassOf 'Acrocephalosyndactyly' http://www.ebi.ac.uk/efo/EFO_1001271 Atrophic Vaginitis 'Atrophic Vaginitis' SubClassOf 'vaginal inflammation' 'Atrophic Vaginitis' SubClassOf 'vaginal inflammation' 'Atrophic Vaginitis' SubClassOf 'inheres_in' some ('vagina' or ('part_of' some 'vagina')) http://www.ebi.ac.uk/efo/EFO_1001270 Arterio-Arterial Fistula 'Arterio-Arterial Fistula' SubClassOf 'vascular disease' 'Arterio-Arterial Fistula' SubClassOf 'has_disease_location' some ('artery' or ('part_of' some 'artery')) 'Arterio-Arterial Fistula' SubClassOf 'vascular disease' http://www.orpha.net/ORDO/Orphanet_1547 Cryptomicrotia - brachydactyly - excess fingertip arch 'Cryptomicrotia - brachydactyly - excess fingertip arch' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Cryptomicrotia - brachydactyly - excess fingertip arch' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_2879 Phocomelia, Schinzel type 'Phocomelia, Schinzel type' SubClassOf 'Genetic syndrome with limb reduction defects' 'Phocomelia, Schinzel type' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' 'Phocomelia, Schinzel type' SubClassOf 'Genetic syndrome with limb reduction defects' http://www.orpha.net/ORDO/Orphanet_1548 Cryptorchidism - arachnodactyly - intellectual disability 'Cryptorchidism - arachnodactyly - intellectual disability' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Cryptorchidism - arachnodactyly - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Cryptorchidism - arachnodactyly - intellectual disability' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Cryptorchidism - arachnodactyly - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 http://www.orpha.net/ORDO/Orphanet_2878 Phocomelia - ectrodactyly - deafness - sinus arrhythmia 'Phocomelia - ectrodactyly - deafness - sinus arrhythmia' SubClassOf 'Syndromic genetic deafness' 'Phocomelia - ectrodactyly - deafness - sinus arrhythmia' SubClassOf 'Genetic syndrome with limb reduction defects' 'Phocomelia - ectrodactyly - deafness - sinus arrhythmia' SubClassOf 'Syndromic genetic deafness' 'Phocomelia - ectrodactyly - deafness - sinus arrhythmia' SubClassOf 'Genetic syndrome with limb reduction defects' 'Phocomelia - ectrodactyly - deafness - sinus arrhythmia' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' http://www.ebi.ac.uk/efo/EFO_1001279 Brown-Sequard Syndrome 'Brown-Sequard Syndrome' SubClassOf 'nervous system disease' 'Brown-Sequard Syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Brown-Sequard Syndrome' SubClassOf 'paraplegia' 'Brown-Sequard Syndrome' SubClassOf 'nervous system disease' http://www.orpha.net/ORDO/Orphanet_1545 Crisponi syndrome 'Crisponi syndrome' SubClassOf 'Cold-induced sweating syndrome-hyperthermia spectrum' 'Crisponi syndrome' SubClassOf 'Cold-induced sweating syndrome' http://www.ebi.ac.uk/efo/EFO_1001278 Brown-Pearce carcinoma 'Brown-Pearce carcinoma' SubClassOf 'carcinoma' 'Brown-Pearce carcinoma' SubClassOf 'carcinoma' http://www.orpha.net/ORDO/Orphanet_2876 PHAVER syndrome 'PHAVER syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'PHAVER syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.ebi.ac.uk/efo/EFO_1001277 Branchioma 'Branchioma' SubClassOf 'cancer' 'Branchioma' SubClassOf 'cancer' http://www.orpha.net/ORDO/Orphanet_2875 Phakomatosis pigmentovascularis 'Phakomatosis pigmentovascularis' SubClassOf 'Syndromic developmental defect of the eye' 'Phakomatosis pigmentovascularis' SubClassOf 'Malformation syndrome with hamartosis' 'Phakomatosis pigmentovascularis' SubClassOf 'Rare disease with glaucoma as a major feature' 'Phakomatosis pigmentovascularis' SubClassOf 'Genetic hyperpigmentation of the skin' 'Phakomatosis pigmentovascularis' SubClassOf 'Rare disease with glaucoma as a major feature' 'Phakomatosis pigmentovascularis' SubClassOf 'Malformation syndrome with hamartosis' 'Phakomatosis pigmentovascularis' SubClassOf 'Syndromic developmental defect of the eye' 'Phakomatosis pigmentovascularis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0042983 'Phakomatosis pigmentovascularis' SubClassOf 'Genetic hyperpigmentation of the skin' http://www.ebi.ac.uk/efo/EFO_1001276 Brain Stem Hemorrhage, Traumatic 'Brain Stem Hemorrhage, Traumatic' SubClassOf 'central nervous system disease' 'Brain Stem Hemorrhage, Traumatic' SubClassOf 'intracranial hemorrhage' 'Brain Stem Hemorrhage, Traumatic' SubClassOf 'has_disease_location' some ('brainstem' or ('part_of' some 'brainstem')) 'Brain Stem Hemorrhage, Traumatic' SubClassOf 'intracranial hemorrhage' http://www.orpha.net/ORDO/Orphanet_2874 Phakomatosis pigmentokeratotica 'Phakomatosis pigmentokeratotica' SubClassOf 'Genetic skin tumor' 'Phakomatosis pigmentokeratotica' SubClassOf 'Malformation syndrome with hamartosis' 'Phakomatosis pigmentokeratotica' SubClassOf 'Genetic skin tumor' 'Phakomatosis pigmentokeratotica' SubClassOf 'Malformation syndrome with hamartosis' 'Phakomatosis pigmentokeratotica' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000648 'Phakomatosis pigmentokeratotica' SubClassOf 'melanocytic nevus' 'Phakomatosis pigmentokeratotica' SubClassOf 'Rare genetic neurological disorder' 'Phakomatosis pigmentokeratotica' SubClassOf http://purl.obolibrary.org/obo/MONDO_0042983 'Phakomatosis pigmentokeratotica' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 http://www.ebi.ac.uk/efo/EFO_1001275 Bordetella Infections 'Bordetella Infections' SubClassOf 'bacterial disease' 'Bordetella Infections' SubClassOf 'bacterial disease' http://www.orpha.net/ORDO/Orphanet_1541 Craniosynostosis, Boston type 'Craniosynostosis, Boston type' SubClassOf 'Syndromic craniosynostosis' 'Craniosynostosis, Boston type' SubClassOf 'Syndromic craniosynostosis' http://www.ebi.ac.uk/efo/EFO_1001274 Bone Anteversion 'Bone Anteversion' SubClassOf 'abnormality of the skeletal system' 'Bone Anteversion' SubClassOf 'abnormality of the skeletal system' http://www.orpha.net/ORDO/Orphanet_2872 Cardiocranial syndrome, Pfeiffer type 'Cardiocranial syndrome, Pfeiffer type' SubClassOf 'Syndromic craniosynostosis' 'Cardiocranial syndrome, Pfeiffer type' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Cardiocranial syndrome, Pfeiffer type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Cardiocranial syndrome, Pfeiffer type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Cardiocranial syndrome, Pfeiffer type' SubClassOf 'Syndromic craniosynostosis' 'Cardiocranial syndrome, Pfeiffer type' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_1538 Craniosynostosis - Dandy-Walker malformation - hydrocephalus 'Craniosynostosis - Dandy-Walker malformation - hydrocephalus' SubClassOf 'Genetic syndrome with a Dandy-Walker malformation as major feature' 'Craniosynostosis - Dandy-Walker malformation - hydrocephalus' SubClassOf 'Familial scaphocephaly syndrome' 'Craniosynostosis - Dandy-Walker malformation - hydrocephalus' SubClassOf 'Genetic syndrome with a Dandy-Walker malformation as major feature' 'Craniosynostosis - Dandy-Walker malformation - hydrocephalus' SubClassOf 'Isolated craniosynostosis' 'Craniosynostosis - Dandy-Walker malformation - hydrocephalus' SubClassOf 'Familial scaphocephaly syndrome' 'Craniosynostosis - Dandy-Walker malformation - hydrocephalus' SubClassOf 'Congenital hydrocephalus' http://www.orpha.net/ORDO/Orphanet_2869 Peutz-Jeghers syndrome 'Peutz-Jeghers syndrome' SubClassOf 'Genetic digestive tract tumor' 'Peutz-Jeghers syndrome' SubClassOf 'Genetic intestinal polyposis' 'Peutz-Jeghers syndrome' SubClassOf 'skin neoplasm' 'Peutz-Jeghers syndrome' SubClassOf 'Malformation syndrome with hamartosis' 'Peutz-Jeghers syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Peutz-Jeghers syndrome' SubClassOf 'disease has feature' some 'Peutz-Jeghers Polyp' 'Peutz-Jeghers syndrome' SubClassOf 'disease has feature' some 'Palpebral lentiginosis' 'Peutz-Jeghers syndrome' SubClassOf 'disease has feature' some 'Pigmented conjunctival lesion' 'Peutz-Jeghers syndrome' SubClassOf 'Genetic intestinal polyposis' 'Peutz-Jeghers syndrome' SubClassOf 'Malformation syndrome with hamartosis' 'Peutz-Jeghers syndrome' SubClassOf 'disease has feature' some 'Genetic hyperpigmentation of the skin' 'Peutz-Jeghers syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Peutz-Jeghers syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015185 http://www.orpha.net/ORDO/Orphanet_178345 Aromatase excess syndrome 'Aromatase excess syndrome' SubClassOf 'disease has feature' some 'Peripheral precocious puberty' 'Aromatase excess syndrome' SubClassOf 'Inborn errors of metabolism' 'Aromatase excess syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044976 http://www.orpha.net/ORDO/Orphanet_324611 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation 'Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation' SubClassOf 'Autosomal dominant Charcot-Marie-Tooth disease type 2' 'Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation' SubClassOf 'Autosomal dominant Charcot-Marie-Tooth disease type 2' http://www.ebi.ac.uk/efo/EFO_1001284 capillary leak syndrome 'capillary leak syndrome' SubClassOf 'vascular disease' 'capillary leak syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001574 'capillary leak syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015938 'capillary leak syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'capillary leak syndrome' SubClassOf 'vascular disease' http://www.orpha.net/ORDO/Orphanet_2882 Sitosterolemia 'Sitosterolemia' SubClassOf 'Rare syndromic dyslipidemia' 'Sitosterolemia' SubClassOf 'Rare syndromic dyslipidemia' http://www.ebi.ac.uk/efo/EFO_1001283 Candidiasis, Invasive 'Candidiasis, Invasive' SubClassOf 'infectious disease' 'Candidiasis, Invasive' SubClassOf 'infectious disease' http://www.orpha.net/ORDO/Orphanet_1551 Familial benign copper deficiency 'Familial benign copper deficiency' SubClassOf 'Disorder of copper metabolism' 'Familial benign copper deficiency' SubClassOf 'Disorder of copper metabolism' http://www.ebi.ac.uk/efo/EFO_1001282 Candidemia 'Candidemia' SubClassOf 'Candidiasis, Invasive' 'Candidemia' SubClassOf 'Candidiasis, Invasive' http://www.orpha.net/ORDO/Orphanet_2880 Phosphoenolpyruvate carboxykinase deficiency 'Phosphoenolpyruvate carboxykinase deficiency' SubClassOf 'Gluconeogenesis disorder' 'Phosphoenolpyruvate carboxykinase deficiency' SubClassOf 'Gluconeogenesis disorder' http://www.ebi.ac.uk/efo/EFO_1001281 Buruli Ulcer 'Buruli Ulcer' SubClassOf 'skin disease' 'Buruli Ulcer' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020590 'Buruli Ulcer' SubClassOf 'skin disease' 'Buruli Ulcer' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000314 http://www.ebi.ac.uk/efo/EFO_1001280 Burkholderia Infections 'Burkholderia Infections' SubClassOf 'bacterial disease' 'Burkholderia Infections' SubClassOf 'bacterial disease' http://www.orpha.net/ORDO/Orphanet_2889 Pili torti 'Pili torti' SubClassOf 'Isolated hair shaft abnormality' 'Pili torti' SubClassOf 'Isolated hair shaft abnormality' http://www.orpha.net/ORDO/Orphanet_2888 Pierre Robin syndrome - faciodigital anomaly 'Pierre Robin syndrome - faciodigital anomaly' SubClassOf 'Orofacial clefting syndrome' 'Pierre Robin syndrome - faciodigital anomaly' SubClassOf 'Orofacial clefting syndrome' http://www.ebi.ac.uk/efo/EFO_1001289 Cholecystitis, Acute 'Cholecystitis, Acute' SubClassOf 'cystitis' 'Cholecystitis, Acute' SubClassOf 'cystitis' 'Cholecystitis, Acute' SubClassOf 'has_disease_location' some ('gallbladder' or ('part_of' some 'gallbladder')) 'Cholecystitis, Acute' SubClassOf 'participates_in' some 'inflammatory response' http://www.ebi.ac.uk/efo/EFO_1001288 Chlamydiaceae Infections 'Chlamydiaceae Infections' SubClassOf 'bacterial disease' 'Chlamydiaceae Infections' SubClassOf 'bacterial disease' 'Chlamydiaceae Infections' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021678 http://www.orpha.net/ORDO/Orphanet_2886 TARP syndrome 'TARP syndrome' SubClassOf 'Genetic syndromic Pierre Robin syndrome' 'TARP syndrome' SubClassOf 'Rare syndrome with cardiac malformations' 'TARP syndrome' SubClassOf 'Genetic syndromic Pierre Robin syndrome' 'TARP syndrome' SubClassOf 'Rare syndrome with cardiac malformations' 'TARP syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015319 http://purl.obolibrary.org/obo/UBERON_0004908 upper digestive tract 'upper digestive tract' SubClassOf 'part_of' some 'esophagus' http://www.ebi.ac.uk/efo/EFO_1001287 Cestode Infections 'Cestode Infections' SubClassOf 'parasitic infection' 'Cestode Infections' SubClassOf 'parasitic infection' http://www.orpha.net/ORDO/Orphanet_1555 Cutis gyrata - acanthosis nigricans - craniosynostosis 'Cutis gyrata - acanthosis nigricans - craniosynostosis' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Cutis gyrata - acanthosis nigricans - craniosynostosis' SubClassOf 'Syndromic craniosynostosis' 'Cutis gyrata - acanthosis nigricans - craniosynostosis' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Cutis gyrata - acanthosis nigricans - craniosynostosis' SubClassOf 'Syndromic craniosynostosis' 'Cutis gyrata - acanthosis nigricans - craniosynostosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 'Cutis gyrata - acanthosis nigricans - craniosynostosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018798 'Cutis gyrata - acanthosis nigricans - craniosynostosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 'Cutis gyrata - acanthosis nigricans - craniosynostosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021154 http://www.orpha.net/ORDO/Orphanet_2885 Piebald trait - neurologic defects 'Piebald trait - neurologic defects' SubClassOf 'Genetic hypopigmentation of the skin' 'Piebald trait - neurologic defects' SubClassOf 'Genetic hypopigmentation of the skin' http://www.ebi.ac.uk/efo/EFO_1001286 Caroli Disease 'Caroli Disease' SubClassOf 'genetic disorder' 'Caroli Disease' SubClassOf 'Non-Neoplastic Bile Duct Disorder' 'Caroli Disease' SubClassOf 'genetic disorder' 'Caroli Disease' SubClassOf 'Non-syndromic visceral malformation' 'Caroli Disease' SubClassOf 'Genetic biliary tract disease' http://www.orpha.net/ORDO/Orphanet_1552 Currarino triad 'Currarino triad' SubClassOf 'Syndromic anorectal malformation' 'Currarino triad' SubClassOf 'Dysostosis with predominant vertebral and costal involvement' 'Currarino triad' SubClassOf 'Syndromic anorectal malformation' 'Currarino triad' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015846 'Currarino triad' SubClassOf 'Dysostosis with predominant vertebral and costal involvement' http://www.orpha.net/ORDO/Orphanet_2884 Piebaldism 'Piebaldism' SubClassOf 'Genetic hypopigmentation of the skin' 'Piebaldism' SubClassOf 'Pigmentation disorder with eye involvement, excluding albinism' 'Piebaldism' SubClassOf 'Eyebrow/eyelashes pigmentation anomaly' 'Piebaldism' SubClassOf 'Genetic hypopigmentation of the skin' 'Piebaldism' SubClassOf 'Pigmentation disorder with eye involvement, excluding albinism' 'Piebaldism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 'Piebaldism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021635 'Piebaldism' SubClassOf 'Eyebrow/eyelashes pigmentation anomaly' http://www.ebi.ac.uk/efo/EFO_1001285 Cardiac Tamponade 'Cardiac Tamponade' SubClassOf 'heart disease' 'Cardiac Tamponade' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001370 'Cardiac Tamponade' SubClassOf 'heart disease' http://www.orpha.net/ORDO/Orphanet_1553 Curry-Jones syndrome 'Curry-Jones syndrome' SubClassOf 'Syndromic craniosynostosis' 'Curry-Jones syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016055 'Curry-Jones syndrome' SubClassOf 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' 'Curry-Jones syndrome' SubClassOf 'Syndromic craniosynostosis' 'Curry-Jones syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007 http://www.orpha.net/ORDO/Orphanet_324604 Classic multiminicore myopathy 'Classic multiminicore myopathy' SubClassOf 'Multiminicore myopathy' 'Classic multiminicore myopathy' SubClassOf 'Multiminicore myopathy' http://www.orpha.net/ORDO/Orphanet_178355 Smith-McCort dysplasia 'Smith-McCort dysplasia' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Smith-McCort dysplasia' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Smith-McCort dysplasia' SubClassOf 'osteochondrodysplasia' http://purl.obolibrary.org/obo/CHEBI_45658 S-methylcysteine 'S-methylcysteine' SubClassOf 'amino acid' 'S-methylcysteine' SubClassOf 'amino acid' http://www.ebi.ac.uk/efo/EFO_1001295 microscopic colitis 'microscopic colitis' SubClassOf 'colitis' 'microscopic colitis' SubClassOf 'has_disease_location' some ('colon' or ('part_of' some 'colon')) 'microscopic colitis' SubClassOf 'colitis' http://www.ebi.ac.uk/efo/EFO_1001294 lymphocytic colitis 'lymphocytic colitis' SubClassOf 'microscopic colitis' 'lymphocytic colitis' SubClassOf 'microscopic colitis' 'lymphocytic colitis' SubClassOf 'has_disease_location' some ('colon' or ('part_of' some 'colon')) http://www.orpha.net/ORDO/Orphanet_1562 Dacryocystitis - osteopoikilosis 'Dacryocystitis - osteopoikilosis' SubClassOf 'Primary bone dysplasia with increased bone density' 'Dacryocystitis - osteopoikilosis' SubClassOf 'Primary bone dysplasia with increased bone density' http://www.orpha.net/ORDO/Orphanet_2892 Pilodental dysplasia - refractive errors 'Pilodental dysplasia - refractive errors' SubClassOf 'Ectodermal dysplasia syndrome' 'Pilodental dysplasia - refractive errors' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Pilodental dysplasia - refractive errors' SubClassOf 'Ectodermal dysplasia syndrome' 'Pilodental dysplasia - refractive errors' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' http://www.ebi.ac.uk/efo/EFO_1001293 collagenous colitis 'collagenous colitis' SubClassOf 'microscopic colitis' 'collagenous colitis' SubClassOf 'microscopic colitis' http://www.orpha.net/ORDO/Orphanet_2891 Pili torti - developmental delay - neurological abnormalities 'Pili torti - developmental delay - neurological abnormalities' SubClassOf 'Syndromic hair shaft abnormality' 'Pili torti - developmental delay - neurological abnormalities' SubClassOf 'Syndromic hair shaft abnormality' http://www.ebi.ac.uk/efo/EFO_1001292 Circoviridae Infections 'Circoviridae Infections' SubClassOf 'viral disease' 'Circoviridae Infections' SubClassOf 'viral disease' http://www.orpha.net/ORDO/Orphanet_2890 Pili torti - onychodysplasia 'Pili torti - onychodysplasia' SubClassOf 'Ectodermal dysplasia syndrome' 'Pili torti - onychodysplasia' SubClassOf 'Ectodermal dysplasia syndrome' http://www.ebi.ac.uk/efo/EFO_1001290 chorea gravidarum 'chorea gravidarum' SubClassOf 'movement disorder' 'chorea gravidarum' SubClassOf 'pregnancy disorder' 'chorea gravidarum' SubClassOf 'movement disorder' 'chorea gravidarum' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0001595 and 'pregnancy disorder' 'chorea gravidarum' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001595 http://www.orpha.net/ORDO/Orphanet_313936 PENS syndrome 'PENS syndrome' SubClassOf 'Genetic skin tumor' 'PENS syndrome' SubClassOf 'melanocytic nevus' 'PENS syndrome' SubClassOf 'Genetic skin tumor' http://www.orpha.net/ORDO/Orphanet_2899 Brachyolmia-amelogenesis imperfecta syndrome 'Brachyolmia-amelogenesis imperfecta syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Brachyolmia-amelogenesis imperfecta syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' http://www.orpha.net/ORDO/Orphanet_1568 X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - Seizures 'X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - Seizures' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - Seizures' SubClassOf 'Genetic syndrome with a cerebellar malformation as major feature' 'X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - Seizures' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - Seizures' SubClassOf 'Genetic syndrome with a Dandy-Walker malformation as major feature' http://www.orpha.net/ORDO/Orphanet_2898 X-linked intellectual disability - plagiocephaly 'X-linked intellectual disability - plagiocephaly' SubClassOf 'Syndromic craniosynostosis' 'X-linked intellectual disability - plagiocephaly' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'X-linked intellectual disability - plagiocephaly' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability - plagiocephaly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'X-linked intellectual disability - plagiocephaly' SubClassOf 'Syndromic craniosynostosis' 'X-linked intellectual disability - plagiocephaly' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'X-linked intellectual disability - plagiocephaly' SubClassOf 'X-linked syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_2897 Pityriasis rubra pilaris 'Pityriasis rubra pilaris' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019270 'Pityriasis rubra pilaris' SubClassOf 'exanthem' http://www.ebi.ac.uk/efo/EFO_1001298 Coxa Vara 'Coxa Vara' SubClassOf 'bone disease' 'Coxa Vara' SubClassOf 'bone disease' 'Coxa Vara' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 http://www.orpha.net/ORDO/Orphanet_1566 Dandy-Walker malformation - postaxial polydactyly 'Dandy-Walker malformation - postaxial polydactyly' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Dandy-Walker malformation - postaxial polydactyly' SubClassOf 'Rare genetic neurological disorder' 'Dandy-Walker malformation - postaxial polydactyly' SubClassOf 'Genetic syndrome with a Dandy-Walker malformation as major feature' 'Dandy-Walker malformation - postaxial polydactyly' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' http://www.orpha.net/ORDO/Orphanet_2896 Pitt-Hopkins syndrome 'Pitt-Hopkins syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Pitt-Hopkins syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Pitt-Hopkins syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Pitt-Hopkins syndrome' SubClassOf 'Monogenic disease with epilepsy' http://www.ebi.ac.uk/efo/EFO_1001297 Coronary-Subclavian Steal Syndrome 'Coronary-Subclavian Steal Syndrome' SubClassOf 'vascular disease' 'Coronary-Subclavian Steal Syndrome' SubClassOf 'has_disease_location' some ('heart' or ('part_of' some 'heart')) 'Coronary-Subclavian Steal Syndrome' SubClassOf 'vascular disease' http://www.orpha.net/ORDO/Orphanet_1563 Dahlberg-Borer-Newcomer syndrome 'Dahlberg-Borer-Newcomer syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Dahlberg-Borer-Newcomer syndrome' SubClassOf 'Syndromic lymphedema' 'Dahlberg-Borer-Newcomer syndrome' SubClassOf 'Syndrome with hypoparathyroidism' 'Dahlberg-Borer-Newcomer syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Dahlberg-Borer-Newcomer syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0009332 'Dahlberg-Borer-Newcomer syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Dahlberg-Borer-Newcomer syndrome' SubClassOf 'Syndromic lymphedema' 'Dahlberg-Borer-Newcomer syndrome' SubClassOf 'Syndrome with hypoparathyroidism' 'Dahlberg-Borer-Newcomer syndrome' SubClassOf 'Milroy disease' 'Dahlberg-Borer-Newcomer syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018722 'Dahlberg-Borer-Newcomer syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Dahlberg-Borer-Newcomer syndrome' SubClassOf 'Ectodermal dysplasia syndrome' http://www.orpha.net/ORDO/Orphanet_33445 Neuroectodermal melanolysosomal disease 'Neuroectodermal melanolysosomal disease' SubClassOf 'Overgrowth syndrome' 'Neuroectodermal melanolysosomal disease' SubClassOf 'Genetic hyperpigmentation of the skin' 'Neuroectodermal melanolysosomal disease' SubClassOf 'Neurocutaneous syndrome with epilepsy' 'Neuroectodermal melanolysosomal disease' SubClassOf 'Pigmentation disorder with eye involvement, excluding albinism' 'Neuroectodermal melanolysosomal disease' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Neuroectodermal melanolysosomal disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 'Neuroectodermal melanolysosomal disease' SubClassOf 'Overgrowth syndrome' 'Neuroectodermal melanolysosomal disease' SubClassOf 'Genetic hyperpigmentation of the skin' 'Neuroectodermal melanolysosomal disease' SubClassOf 'Neurocutaneous syndrome with epilepsy' 'Neuroectodermal melanolysosomal disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Neuroectodermal melanolysosomal disease' SubClassOf 'Pigmentation disorder with eye involvement, excluding albinism' 'Neuroectodermal melanolysosomal disease' SubClassOf 'Malformation syndrome with skin/mucosae involvement' http://www.ebi.ac.uk/efo/EFO_1001296 colon diverticulum 'colon diverticulum' SubClassOf 'digestive system disease' 'colon diverticulum' SubClassOf 'digestive system disease' http://www.orpha.net/ORDO/Orphanet_2894 Pilotto syndrome 'Pilotto syndrome' SubClassOf 'Orofacial clefting syndrome' 'Pilotto syndrome' SubClassOf 'Orofacial clefting syndrome' http://www.orpha.net/ORDO/Orphanet_46724 Cerebral arteriovenous malformation 'Cerebral arteriovenous malformation' SubClassOf 'Genetic neurovascular malformation' 'Cerebral arteriovenous malformation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000648 'Cerebral arteriovenous malformation' SubClassOf 'Genetic central nervous system and retinal vascular disease' 'Cerebral arteriovenous malformation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018729 'Cerebral arteriovenous malformation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001256 'Cerebral arteriovenous malformation' SubClassOf 'Genetic neurovascular malformation' http://www.orpha.net/ORDO/Orphanet_1572 Common variable immunodeficiency 'Common variable immunodeficiency' SubClassOf 'Inherited cancer-predisposing syndrome' 'Common variable immunodeficiency' SubClassOf 'Immunodeficiency predominantly affecting antibody production' 'Common variable immunodeficiency' SubClassOf 'Inherited cancer-predisposing syndrome' 'Common variable immunodeficiency' SubClassOf 'Syndromic agammaglobulinemia' http://www.orpha.net/ORDO/Orphanet_1573 Hypotrichosis with juvenile macular degeneration 'Hypotrichosis with juvenile macular degeneration' SubClassOf 'Unclassified primitive or secondary maculopathy' 'Hypotrichosis with juvenile macular degeneration' SubClassOf 'Ectodermal dysplasia syndrome' 'Hypotrichosis with juvenile macular degeneration' SubClassOf 'Unclassified primitive or secondary maculopathy' 'Hypotrichosis with juvenile macular degeneration' SubClassOf 'Ectodermal dysplasia syndrome' 'Hypotrichosis with juvenile macular degeneration' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003037 'Hypotrichosis with juvenile macular degeneration' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 http://www.orpha.net/ORDO/Orphanet_1570 Symbrachydactyly of hands and feet 'Symbrachydactyly of hands and feet' SubClassOf 'Brachydactyly' 'Symbrachydactyly of hands and feet' SubClassOf 'Brachydactyly' http://www.orpha.net/ORDO/Orphanet_1571 Knobloch syndrome 'Knobloch syndrome' SubClassOf 'Vitreoretinal degeneration' 'Knobloch syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Knobloch syndrome' SubClassOf 'Vitreoretinal degeneration' 'Knobloch syndrome' SubClassOf 'Syndromic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_313947 2q23.1 microduplication syndrome '2q23.1 microduplication syndrome' SubClassOf 'Partial duplication of the long arm of chromosome 2' '2q23.1 microduplication syndrome' SubClassOf 'Partial duplication of the long arm of chromosome 2' '2q23.1 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 '2q23.1 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 http://www.orpha.net/ORDO/Orphanet_1578 Dehydratase deficiency 'Dehydratase deficiency' SubClassOf 'Hyperphenylalaninemia' 'Dehydratase deficiency' SubClassOf 'Hyperphenylalaninemia' http://www.orpha.net/ORDO/Orphanet_1576 Infantile bilateral striatal necrosis 'Infantile bilateral striatal necrosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003122 'Infantile bilateral striatal necrosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017641 'Infantile bilateral striatal necrosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 http://purl.obolibrary.org/obo/CHEBI_34988 sulmazole 'sulmazole' SubClassOf 'has_role' some 'cardiotonic drug' http://www.orpha.net/ORDO/Orphanet_1574 Retinal degeneration - nanophthalmos - glaucoma 'Retinal degeneration - nanophthalmos - glaucoma' SubClassOf 'Retinal dystrophy' 'Retinal degeneration - nanophthalmos - glaucoma' SubClassOf 'Retinal dystrophy' http://www.orpha.net/ORDO/Orphanet_178330 Heinz body anemia 'Heinz body anemia' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Heinz body anemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004139 http://www.orpha.net/ORDO/Orphanet_178338 UV-sensitive syndrome 'UV-sensitive syndrome' SubClassOf 'Genetic photodermatosis' 'UV-sensitive syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 'UV-sensitive syndrome' SubClassOf 'Inborn errors of metabolism' 'UV-sensitive syndrome' SubClassOf 'Genetic photodermatosis' 'UV-sensitive syndrome' SubClassOf 'autosomal recessive disease' 'UV-sensitive syndrome' SubClassOf 'DNA repair deficiency' 'UV-sensitive syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019304 http://www.orpha.net/ORDO/Orphanet_178333 Åland Islands eye disease 'Åland Islands eye disease' SubClassOf 'Retinal dystrophy' 'Åland Islands eye disease' SubClassOf 'Retinal dystrophy' http://www.orpha.net/ORDO/Orphanet_2834 Wrinkly skin syndrome 'Wrinkly skin syndrome' SubClassOf 'Autosomal recessive cutis laxa type 2A' 'Wrinkly skin syndrome' SubClassOf 'Autosomal recessive cutis laxa type 2A' http://www.orpha.net/ORDO/Orphanet_2833 Stiff skin syndrome 'Stiff skin syndrome' SubClassOf 'Unclassified genetic skin disorder' 'Stiff skin syndrome' SubClassOf 'Unclassified genetic skin disorder' http://www.orpha.net/ORDO/Orphanet_2832 Short tarsus - absence of lower eyelashes 'Short tarsus - absence of lower eyelashes' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Short tarsus - absence of lower eyelashes' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_166311 Benign partial infantile seizures 'Benign partial infantile seizures' SubClassOf 'Infantile epilepsy syndrome' 'Benign partial infantile seizures' SubClassOf 'Infantile epilepsy syndrome' http://www.orpha.net/ORDO/Orphanet_2831 Rhizomelic dysplasia, Patterson-Lowry type 'Rhizomelic dysplasia, Patterson-Lowry type' SubClassOf 'Mesomelic and rhizo-mesomelic dysplasia' 'Rhizomelic dysplasia, Patterson-Lowry type' SubClassOf 'Mesomelic and rhizo-mesomelic dysplasia' http://www.orpha.net/ORDO/Orphanet_397596 Activated PIK3-delta syndrome 'Activated PIK3-delta syndrome' SubClassOf 'Agammaglobulinemia' http://purl.obolibrary.org/obo/EO_0007337 Nematoda 'Nematoda' SubClassOf 'Metazoa' 'Nematoda' SubClassOf 'Metazoa' http://www.orpha.net/ORDO/Orphanet_166308 Benign infantile focal epilepsy with midline spikes and wave during sleep 'Benign infantile focal epilepsy with midline spikes and wave during sleep' SubClassOf 'Benign partial infantile seizures' 'Benign infantile focal epilepsy with midline spikes and wave during sleep' SubClassOf 'Benign partial infantile seizures' http://www.orpha.net/ORDO/Orphanet_2828 Young adult-onset Parkinsonism 'Young adult-onset Parkinsonism' SubClassOf 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' 'Young adult-onset Parkinsonism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015914 'Young adult-onset Parkinsonism' SubClassOf 'Parkinson's disease' 'Young adult-onset Parkinsonism' SubClassOf 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_141007 Orofaciodigital syndrome type 9 'Orofaciodigital syndrome type 9' SubClassOf 'Orofaciodigital syndrome' 'Orofaciodigital syndrome type 9' SubClassOf 'Orofaciodigital syndrome' http://www.orpha.net/ORDO/Orphanet_2826 Spastic paraplegia - precocious puberty 'Spastic paraplegia - precocious puberty' SubClassOf 'Autosomal dominant complex spastic paraplegia' 'Spastic paraplegia - precocious puberty' SubClassOf 'Autosomal dominant complex spastic paraplegia' 'Spastic paraplegia - precocious puberty' SubClassOf 'disease has feature' some http://purl.obolibrary.org/obo/MONDO_0000088 http://www.orpha.net/ORDO/Orphanet_2825 PARC syndrome 'PARC syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'PARC syndrome' SubClassOf 'Orofacial clefting syndrome' 'PARC syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'PARC syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 'PARC syndrome' SubClassOf 'Orofacial clefting syndrome' http://www.orpha.net/ORDO/Orphanet_300605 Juvenile amyotrophic lateral sclerosis 'Juvenile amyotrophic lateral sclerosis' SubClassOf 'Genetic motor neuron disease' 'Juvenile amyotrophic lateral sclerosis' SubClassOf 'amyotrophic lateral sclerosis' 'Juvenile amyotrophic lateral sclerosis' SubClassOf 'familial amyotrophic lateral sclerosis' http://purl.obolibrary.org/obo/CHEBI_46938 zebularine 'zebularine' SubClassOf 'chemical entity' 'zebularine' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_178307 Reticulate acropigmentation of Kitamura 'Reticulate acropigmentation of Kitamura' SubClassOf 'Genetic hyperpigmentation of the skin' 'Reticulate acropigmentation of Kitamura' SubClassOf 'Genetic hyperpigmentation of the skin' 'Reticulate acropigmentation of Kitamura' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000118 http://www.orpha.net/ORDO/Orphanet_397590 Silver-Russell syndrome due to a point mutation 'Silver-Russell syndrome due to a point mutation' SubClassOf 'Silver-Russell syndrome' 'Silver-Russell syndrome due to a point mutation' SubClassOf 'Silver-Russell syndrome' http://www.orpha.net/ORDO/Orphanet_397593 Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency 'Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency' SubClassOf 'Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes' 'Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency' SubClassOf 'Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes' http://www.orpha.net/ORDO/Orphanet_178303 8q22.1 microdeletion syndrome '8q22.1 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 8' '8q22.1 microdeletion syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' '8q22.1 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 8' '8q22.1 microdeletion syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_1514 Craniodigital syndrome - intellectual disability 'Craniodigital syndrome - intellectual disability' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Craniodigital syndrome - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Craniodigital syndrome - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Craniodigital syndrome - intellectual disability' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_1515 Cranioectodermal dysplasia 'Cranioectodermal dysplasia' SubClassOf 'Syndromic craniosynostosis' 'Cranioectodermal dysplasia' SubClassOf 'Short rib-polydactyly syndrome' 'Cranioectodermal dysplasia' SubClassOf 'Ectodermal dysplasia syndrome' 'Cranioectodermal dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019744 'Cranioectodermal dysplasia' SubClassOf 'Syndromic craniosynostosis' 'Cranioectodermal dysplasia' SubClassOf 'Short rib-polydactyly syndrome' 'Cranioectodermal dysplasia' SubClassOf 'Ectodermal dysplasia syndrome' 'Cranioectodermal dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0011679 'Cranioectodermal dysplasia' SubClassOf 'Genetic renal tubular disease' http://www.orpha.net/ORDO/Orphanet_1512 Crane-Heise syndrome 'Crane-Heise syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Crane-Heise syndrome' SubClassOf 'Orofacial clefting syndrome' 'Crane-Heise syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 'Crane-Heise syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Crane-Heise syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Crane-Heise syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Crane-Heise syndrome' SubClassOf 'Orofacial clefting syndrome' http://www.orpha.net/ORDO/Orphanet_1513 Craniodiaphyseal dysplasia 'Craniodiaphyseal dysplasia' SubClassOf 'Primary bone dysplasia with increased bone density' 'Craniodiaphyseal dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002185 'Craniodiaphyseal dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020018 'Craniodiaphyseal dysplasia' SubClassOf 'Craniometaphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_166305 Benign infantile seizures associated to mild gastroenteritis 'Benign infantile seizures associated to mild gastroenteritis' SubClassOf 'Benign partial infantile seizures' 'Benign infantile seizures associated to mild gastroenteritis' SubClassOf 'Benign partial infantile seizures' http://www.orpha.net/ORDO/Orphanet_2843 Pentosuria 'Pentosuria' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018605 http://www.orpha.net/ORDO/Orphanet_2841 Familial benign chronic pemphigus 'Familial benign chronic pemphigus' SubClassOf 'pemphigus' 'Familial benign chronic pemphigus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019274 http://purl.obolibrary.org/obo/EO_0007319 warm/hot air temperature regimen 'warm/hot air temperature regimen' SubClassOf 'warm/hot temperature regimen' 'warm/hot air temperature regimen' SubClassOf 'warm/hot temperature regimen' http://www.orpha.net/ORDO/Orphanet_166302 Benign partial epilepsy with secondarily generalized seizures in infancy 'Benign partial epilepsy with secondarily generalized seizures in infancy' SubClassOf 'Benign non-familial infantile seizures' 'Benign partial epilepsy with secondarily generalized seizures in infancy' SubClassOf 'Benign non-familial infantile seizures' http://www.orpha.net/ORDO/Orphanet_2840 Pelvic dysplasia - arthrogryposis of lower limbs 'Pelvic dysplasia - arthrogryposis of lower limbs' SubClassOf 'Dysostosis with predominant vertebral and costal involvement' 'Pelvic dysplasia - arthrogryposis of lower limbs' SubClassOf 'Dysostosis with predominant vertebral and costal involvement' http://www.orpha.net/ORDO/Orphanet_1509 Coxopodopatellar syndrome 'Coxopodopatellar syndrome' SubClassOf 'Patellar dysostosis' 'Coxopodopatellar syndrome' SubClassOf 'Patellar dysostosis' http://www.orpha.net/ORDO/Orphanet_1507 Autosomal recessive Robinow syndrome 'Autosomal recessive Robinow syndrome' SubClassOf 'Robinow syndrome' 'Autosomal recessive Robinow syndrome' SubClassOf 'autosomal recessive disease' 'Autosomal recessive Robinow syndrome' SubClassOf 'Robinow syndrome' http://www.orpha.net/ORDO/Orphanet_2839 Pelvis-shoulder dysplasia 'Pelvis-shoulder dysplasia' SubClassOf 'Genetic syndrome with limb reduction defects' 'Pelvis-shoulder dysplasia' SubClassOf 'Genetic syndrome with limb reduction defects' 'Pelvis-shoulder dysplasia' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' http://www.orpha.net/ORDO/Orphanet_1508 Coxoauricular syndrome 'Coxoauricular syndrome' SubClassOf 'Primary bone dysplasia with multiple joint dislocations' 'Coxoauricular syndrome' SubClassOf 'Primary bone dysplasia with multiple joint dislocations' http://www.orpha.net/ORDO/Orphanet_1505 Short rib-polydactyly syndrome 'Short rib-polydactyly syndrome' SubClassOf 'Short rib dysplasia' 'Short rib-polydactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Short rib-polydactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015929 'Short rib-polydactyly syndrome' SubClassOf 'Short rib dysplasia' http://www.orpha.net/ORDO/Orphanet_2837 Pellagra-like skin rash - neurological manifestations 'Pellagra-like skin rash - neurological manifestations' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 http://www.orpha.net/ORDO/Orphanet_1506 Thin ribs - tubular bones - dysmorphism 'Thin ribs - tubular bones - dysmorphism' SubClassOf 'Slender bone dysplasia' 'Thin ribs - tubular bones - dysmorphism' SubClassOf 'Slender bone dysplasia' http://www.orpha.net/ORDO/Orphanet_2836 PEHO syndrome 'PEHO syndrome' SubClassOf 'Epilepsy syndrome' 'PEHO syndrome' SubClassOf 'Syndromic lymphedema' 'PEHO syndrome' SubClassOf 'Genetic neurodegenerative disease' 'PEHO syndrome' SubClassOf 'Epilepsy syndrome' 'PEHO syndrome' SubClassOf 'Syndromic lymphedema' 'PEHO syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018609 'PEHO syndrome' SubClassOf 'Genetic neurodegenerative disease' 'PEHO syndrome' SubClassOf 'Milroy disease' 'PEHO syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004884 http://purl.obolibrary.org/obo/CHEBI_21626 N-acetylphenylalanine 'N-acetylphenylalanine' SubClassOf 'chemical entity' 'N-acetylphenylalanine' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_1525 Cranio-osteoarthropathy 'Cranio-osteoarthropathy' SubClassOf 'Primary hypertrophic osteoarthropathy' 'Cranio-osteoarthropathy' SubClassOf 'Pachydermoperiostosis' 'Cranio-osteoarthropathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 'Cranio-osteoarthropathy' SubClassOf 'Currarino triad' http://www.orpha.net/ORDO/Orphanet_2856 Persistent Müllerian duct syndrome 'Persistent Müllerian duct syndrome' SubClassOf 'Rare genetic disorder with obstructive azoospermia' 'Persistent Müllerian duct syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018396 'Persistent Müllerian duct syndrome' SubClassOf 'Rare genetic disorder with obstructive azoospermia' 'Persistent Müllerian duct syndrome' SubClassOf 'Genetic 46,XY disorder of sex development of endocrine origin' 'Persistent Müllerian duct syndrome' SubClassOf 'pseudohermaphroditism' http://www.orpha.net/ORDO/Orphanet_2855 Perrault syndrome 'Perrault syndrome' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Perrault syndrome' SubClassOf 'Non-acquired premature ovarian failure' 'Perrault syndrome' SubClassOf 'Female infertility due to gonadal dysgenesis' 'Perrault syndrome' SubClassOf 'Syndrome with 46,XX disorder of sex development' 'Perrault syndrome' SubClassOf 'Syndrome with disorder of sex development of gynecological interest' 'Perrault syndrome' SubClassOf 'Syndromic genetic deafness' 'Perrault syndrome' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Perrault syndrome' SubClassOf 'Non-acquired premature ovarian failure' 'Perrault syndrome' SubClassOf 'Female infertility due to gonadal dysgenesis' 'Perrault syndrome' SubClassOf 'Syndrome with 46,XX disorder of sex development' 'Perrault syndrome' SubClassOf 'Syndrome with disorder of sex development of gynecological interest' 'Perrault syndrome' SubClassOf 'autosomal recessive disease' 'Perrault syndrome' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_1524 Craniomicromelic syndrome 'Craniomicromelic syndrome' SubClassOf 'Syndromic craniosynostosis' 'Craniomicromelic syndrome' SubClassOf 'Syndromic craniosynostosis' http://www.orpha.net/ORDO/Orphanet_2854 Fuhrmann syndrome 'Fuhrmann syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Fuhrmann syndrome' SubClassOf 'Orofacial clefting syndrome' 'Fuhrmann syndrome' SubClassOf 'Genetic syndrome with limb reduction defects' 'Fuhrmann syndrome' SubClassOf 'Orofacial clefting syndrome' 'Fuhrmann syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Fuhrmann syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 'Fuhrmann syndrome' SubClassOf 'Genetic syndrome with limb reduction defects' http://www.orpha.net/ORDO/Orphanet_1521 Craniofrontonasal dysplasia - Poland anomaly 'Craniofrontonasal dysplasia - Poland anomaly' SubClassOf 'Frontonasal dysplasia' 'Craniofrontonasal dysplasia - Poland anomaly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015856 'Craniofrontonasal dysplasia - Poland anomaly' SubClassOf 'Frontonasal dysplasia' http://www.orpha.net/ORDO/Orphanet_1522 Craniometaphyseal dysplasia 'Craniometaphyseal dysplasia' SubClassOf 'Primary bone dysplasia with increased bone density' 'Craniometaphyseal dysplasia' SubClassOf 'Primary bone dysplasia with increased bone density' 'Craniometaphyseal dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002933 http://www.orpha.net/ORDO/Orphanet_1520 Craniofrontonasal dysplasia 'Craniofrontonasal dysplasia' SubClassOf 'X-linked syndromic intellectual disability' 'Craniofrontonasal dysplasia' SubClassOf 'Acrofacial dysostosis' 'Craniofrontonasal dysplasia' SubClassOf 'Frontonasal dysplasia' 'Craniofrontonasal dysplasia' SubClassOf 'X-linked syndromic intellectual disability' 'Craniofrontonasal dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Craniofrontonasal dysplasia' SubClassOf 'Acrofacial dysostosis' 'Craniofrontonasal dysplasia' SubClassOf 'Frontonasal dysplasia' 'Craniofrontonasal dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021635 http://www.orpha.net/ORDO/Orphanet_2850 Alopecia-intellectual disability syndrome 'Alopecia-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021034 'Alopecia-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 http://purl.obolibrary.org/obo/EO_0007317 Nilaparvata lugens 'Nilaparvata lugens' SubClassOf 'Insecta' 'Nilaparvata lugens' SubClassOf 'Insecta' http://www.orpha.net/ORDO/Orphanet_1519 Hypertelorism, Teebi type 'Hypertelorism, Teebi type' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Hypertelorism, Teebi type' SubClassOf 'Frontonasal dysplasia' 'Hypertelorism, Teebi type' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Hypertelorism, Teebi type' SubClassOf 'Frontonasal dysplasia' http://www.orpha.net/ORDO/Orphanet_2849 Perlman syndrome 'Perlman syndrome' SubClassOf 'Overgrowth syndrome' 'Perlman syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Perlman syndrome' SubClassOf 'Inherited renal cancer-predisposing syndrome' 'Perlman syndrome' SubClassOf 'Overgrowth syndrome' 'Perlman syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' http://www.orpha.net/ORDO/Orphanet_1516 Craniofacial dyssynostosis 'Craniofacial dyssynostosis' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Craniofacial dyssynostosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020018 http://www.orpha.net/ORDO/Orphanet_1517 Hypertrichotic osteochondrodysplasia, Cantu type 'Hypertrichotic osteochondrodysplasia, Cantu type' SubClassOf 'Dysostosis with predominant craniofacial involvement' 'Hypertrichotic osteochondrodysplasia, Cantu type' SubClassOf 'Dysostosis with predominant craniofacial involvement' 'Hypertrichotic osteochondrodysplasia, Cantu type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007 'Hypertrichotic osteochondrodysplasia, Cantu type' SubClassOf 'disease has feature' some 'Hypertrichosis' 'Hypertrichotic osteochondrodysplasia, Cantu type' SubClassOf 'osteochondrodysplasia' http://www.orpha.net/ORDO/Orphanet_2847 Pericardial and diaphragmatic defect 'Pericardial and diaphragmatic defect' SubClassOf 'has_disease_location' some 'pericardium' 'Pericardial and diaphragmatic defect' SubClassOf 'has_disease_location' some 'diaphragm' 'Pericardial and diaphragmatic defect' SubClassOf 'muscular disease' 'Pericardial and diaphragmatic defect' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015216 http://purl.obolibrary.org/obo/CHEBI_18005 keto-phenylpyruvate 'keto-phenylpyruvate' SubClassOf 'chemical entity' 'keto-phenylpyruvate' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_2868 Short stature - valvular heart disease - characteristic facies 'Short stature - valvular heart disease - characteristic facies' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Short stature - valvular heart disease - characteristic facies' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_2867 Short stature, Brussels type 'Short stature, Brussels type' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'Short stature, Brussels type' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' http://www.orpha.net/ORDO/Orphanet_2866 Short stature - deafness - neutrophil dysfunction - dysmorphism 'Short stature - deafness - neutrophil dysfunction - dysmorphism' SubClassOf 'Syndromic genetic deafness' 'Short stature - deafness - neutrophil dysfunction - dysmorphism' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_2865 Short stature - webbed neck - heart disease 'Short stature - webbed neck - heart disease' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Short stature - webbed neck - heart disease' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Short stature - webbed neck - heart disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Short stature - webbed neck - heart disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 http://www.orpha.net/ORDO/Orphanet_1532 Gómez-López-Hernández syndrome 'Gómez-López-Hernández syndrome' SubClassOf 'Genetic syndrome with a cerebellar malformation as major feature' 'Gómez-López-Hernández syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 http://www.orpha.net/ORDO/Orphanet_1533 Craniosynostosis - fibular aplasia 'Craniosynostosis - fibular aplasia' SubClassOf 'Syndromic craniosynostosis' 'Craniosynostosis - fibular aplasia' SubClassOf 'Syndromic craniosynostosis' http://www.orpha.net/ORDO/Orphanet_2863 Short stature - wormian bones - dextrocardia 'Short stature - wormian bones - dextrocardia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007 http://www.orpha.net/ORDO/Orphanet_1530 Craniosynostosis - cataract 'Craniosynostosis - cataract' SubClassOf 'Syndromic craniosynostosis' 'Craniosynostosis - cataract' SubClassOf 'Syndromic craniosynostosis' http://www.orpha.net/ORDO/Orphanet_1531 Craniosynostosis 'Craniosynostosis' SubClassOf 'Dysostosis of genetic origin' 'Craniosynostosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020018 'Craniosynostosis' SubClassOf 'Dysostosis of genetic origin' http://www.orpha.net/ORDO/Orphanet_168984 CLAPO syndrome 'CLAPO syndrome' SubClassOf 'Overgrowth syndrome' 'CLAPO syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016235 'CLAPO syndrome' SubClassOf 'Overgrowth syndrome' http://www.orpha.net/ORDO/Orphanet_1529 Craniofacial-deafness-hand syndrome 'Craniofacial-deafness-hand syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Craniofacial-deafness-hand syndrome' SubClassOf 'Syndromic genetic deafness' 'Craniofacial-deafness-hand syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Craniofacial-deafness-hand syndrome' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_1527 Craniosynostosis, Philadelphia type 'Craniosynostosis, Philadelphia type' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Craniosynostosis, Philadelphia type' SubClassOf 'Syndromic craniosynostosis' 'Craniosynostosis, Philadelphia type' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Craniosynostosis, Philadelphia type' SubClassOf 'Syndromic craniosynostosis' http://www.orpha.net/ORDO/Orphanet_1528 Craniotelencephalic dysplasia 'Craniotelencephalic dysplasia' SubClassOf 'Syndromic craniosynostosis' 'Craniotelencephalic dysplasia' SubClassOf 'Other syndrome with lissencephaly as a major feature' 'Craniotelencephalic dysplasia' SubClassOf 'Syndromic craniosynostosis' 'Craniotelencephalic dysplasia' SubClassOf 'Other syndrome with lissencephaly as a major feature' http://www.orpha.net/ORDO/Orphanet_45448 Miyoshi myopathy 'Miyoshi myopathy' SubClassOf 'Qualitative or quantitative defects of dysferlin' 'Miyoshi myopathy' SubClassOf 'Autosomal recessive distal myopathy' 'Miyoshi myopathy' SubClassOf 'Qualitative or quantitative defects of dysferlin' 'Miyoshi myopathy' SubClassOf 'Autosomal recessive distal myopathy' http://www.orpha.net/ORDO/Orphanet_34592 Immunodeficiency by defective expression of HLA class 1 'Immunodeficiency by defective expression of HLA class 1' SubClassOf 'Combined T and B cell immunodeficiency' 'Immunodeficiency by defective expression of HLA class 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018814 http://www.ebi.ac.uk/efo/EFO_1000103 Bartholin Gland Carcinoma 'Bartholin Gland Carcinoma' SubClassOf 'vulvar carcinoma' 'Bartholin Gland Carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021114 'Bartholin Gland Carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000653 'Bartholin Gland Carcinoma' SubClassOf 'vulvar carcinoma' http://www.ebi.ac.uk/efo/EFO_1001435 Tenosynovitis 'Tenosynovitis' SubClassOf 'bone disease' 'Tenosynovitis' SubClassOf 'bone disease' 'Tenosynovitis' SubClassOf 'joint disease' 'Tenosynovitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024876 'Tenosynovitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004857 'Tenosynovitis' SubClassOf 'participates_in' some 'inflammatory response' http://www.ebi.ac.uk/efo/EFO_1000104 Bartholin Gland Squamous Cell Carcinoma 'Bartholin Gland Squamous Cell Carcinoma' SubClassOf 'Bartholin Gland Carcinoma' 'Bartholin Gland Squamous Cell Carcinoma' SubClassOf 'squamous cell carcinoma' 'Bartholin Gland Squamous Cell Carcinoma' SubClassOf 'Bartholin Gland Carcinoma' 'Bartholin Gland Squamous Cell Carcinoma' SubClassOf 'Vulvar Squamous Cell Carcinoma' 'Bartholin Gland Squamous Cell Carcinoma' SubClassOf 'squamous cell carcinoma' http://www.ebi.ac.uk/efo/EFO_1001434 Tendinopathy 'Tendinopathy' SubClassOf 'bone disease' 'Tendinopathy' SubClassOf 'bone disease' 'Tendinopathy' SubClassOf 'connective tissue disease' http://www.ebi.ac.uk/efo/EFO_1000101 Atypical Meningioma 'Atypical Meningioma' SubClassOf 'Meningioma' 'Atypical Meningioma' SubClassOf 'has_disease_location' some ('meninx' or ('part_of' some 'meninx')) 'Atypical Meningioma' SubClassOf 'Meningioma' http://www.ebi.ac.uk/efo/EFO_1001433 Taeniasis 'Taeniasis' SubClassOf 'parasitic intestinal disease' 'Taeniasis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024271 'Taeniasis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0042488 http://www.ebi.ac.uk/efo/EFO_1000102 B-Cell Prolymphocytic Leukemia 'B-Cell Prolymphocytic Leukemia' SubClassOf 'lymphoid leukemia' 'B-Cell Prolymphocytic Leukemia' SubClassOf 'has_disease_location' some 'lymphocyte of B lineage' 'B-Cell Prolymphocytic Leukemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017595 'B-Cell Prolymphocytic Leukemia' SubClassOf 'neoplasm of mature B-cells' 'B-Cell Prolymphocytic Leukemia' SubClassOf 'lymphoid leukemia' 'B-Cell Prolymphocytic Leukemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001023 http://www.ebi.ac.uk/efo/EFO_1001432 Tachycardia, Reciprocating 'Tachycardia, Reciprocating' SubClassOf 'cardiac arrhythmia' 'Tachycardia, Reciprocating' SubClassOf 'cardiac arrhythmia' 'Tachycardia, Reciprocating' SubClassOf 'has_disease_location' some ('heart' or ('part_of' some 'heart')) http://www.ebi.ac.uk/efo/EFO_1001431 suppurative thyroiditis 'suppurative thyroiditis' SubClassOf 'thyroid disease' 'suppurative thyroiditis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004126 'suppurative thyroiditis' SubClassOf 'thyroid disease' http://www.ebi.ac.uk/efo/EFO_1000100 Atypical Lobular Breast Hyperplasia 'Atypical Lobular Breast Hyperplasia' SubClassOf 'hyperplasia' 'Atypical Lobular Breast Hyperplasia' SubClassOf 'breast neoplasm' 'Atypical Lobular Breast Hyperplasia' SubClassOf 'hyperplasia' 'Atypical Lobular Breast Hyperplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000653 'Atypical Lobular Breast Hyperplasia' SubClassOf 'breast neoplasm' 'Atypical Lobular Breast Hyperplasia' SubClassOf 'has_disease_location' some ('breast' or ('part_of' some 'breast')) 'Atypical Lobular Breast Hyperplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002486 http://www.ebi.ac.uk/efo/EFO_1001430 Sublingual Gland Neoplasms 'Sublingual Gland Neoplasms' SubClassOf 'salivary gland neoplasm' 'Sublingual Gland Neoplasms' SubClassOf 'salivary gland neoplasm' 'Sublingual Gland Neoplasms' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021368 http://www.ebi.ac.uk/efo/EFO_1000109 Benign Childhood Cerebral Neoplasm 'Benign Childhood Cerebral Neoplasm' SubClassOf 'brain neoplasm' 'Benign Childhood Cerebral Neoplasm' SubClassOf 'brain neoplasm' 'Benign Childhood Cerebral Neoplasm' SubClassOf 'has_disease_location' some ('brain' or ('part_of' some 'brain')) http://www.ebi.ac.uk/efo/EFO_1000107 Benign Brain Neoplasm 'Benign Brain Neoplasm' SubClassOf 'brain neoplasm' 'Benign Brain Neoplasm' SubClassOf 'has_disease_location' some ('brain' or ('part_of' some 'brain')) 'Benign Brain Neoplasm' SubClassOf 'brain neoplasm' http://www.ebi.ac.uk/efo/EFO_1001439 Trilogy of Fallot 'Trilogy of Fallot' SubClassOf 'Abnormality of the cardiovascular system' 'Trilogy of Fallot' SubClassOf 'Abnormality of the cardiovascular system' http://www.ebi.ac.uk/efo/EFO_1000108 Benign Carotid Body Paraganglioma 'Benign Carotid Body Paraganglioma' SubClassOf 'neoplasm' 'Benign Carotid Body Paraganglioma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0056804 'Benign Carotid Body Paraganglioma' SubClassOf 'neoplasm' 'Benign Carotid Body Paraganglioma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021053 'Benign Carotid Body Paraganglioma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024286 'Benign Carotid Body Paraganglioma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000627 http://www.ebi.ac.uk/efo/EFO_1001438 Trematode Infections 'Trematode Infections' SubClassOf 'parasitic infection' 'Trematode Infections' SubClassOf 'parasitic infection' http://www.ebi.ac.uk/efo/EFO_1000105 Basaloid Carcinoma 'Basaloid Carcinoma' SubClassOf 'carcinoma' 'Basaloid Carcinoma' SubClassOf 'has_disease_location' some 'epithelial cell' 'Basaloid Carcinoma' SubClassOf 'carcinoma' http://www.ebi.ac.uk/efo/EFO_1001437 Tracheal neoplasm 'Tracheal neoplasm' SubClassOf 'respiratory system neoplasm' 'Tracheal neoplasm' SubClassOf 'has_disease_location' some ('trachea' or ('part_of' some 'trachea')) 'Tracheal neoplasm' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020641 'Tracheal neoplasm' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002567 'Tracheal neoplasm' SubClassOf 'neoplasm' http://www.ebi.ac.uk/efo/EFO_1000106 Benign Adrenal Gland Pheochromocytoma 'Benign Adrenal Gland Pheochromocytoma' SubClassOf 'adrenal gland pheochromocytoma' 'Benign Adrenal Gland Pheochromocytoma' SubClassOf 'has_disease_location' some ('adrenal gland' or ('part_of' some 'adrenal gland')) 'Benign Adrenal Gland Pheochromocytoma' SubClassOf 'adrenal gland pheochromocytoma' 'Benign Adrenal Gland Pheochromocytoma' SubClassOf 'adrenal gland neoplasm' 'Benign Adrenal Gland Pheochromocytoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0036976 'Benign Adrenal Gland Pheochromocytoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0056804 'Benign Adrenal Gland Pheochromocytoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021468 http://www.ebi.ac.uk/efo/EFO_1001436 thyroid nodule 'thyroid nodule' SubClassOf 'thyroid disease' 'thyroid nodule' SubClassOf 'thyroid disease' http://www.orpha.net/ORDO/Orphanet_71528 Obesity due to prohormone convertase I deficiency 'Obesity due to prohormone convertase I deficiency' SubClassOf 'Obesity due to congenital leptin resistance' 'Obesity due to prohormone convertase I deficiency' SubClassOf 'Hypogonadotropic hypogonadism associated with other endocrinopathies' 'Obesity due to prohormone convertase I deficiency' SubClassOf 'Obesity due to congenital leptin resistance' 'Obesity due to prohormone convertase I deficiency' SubClassOf 'Hypogonadotropic hypogonadism associated with other endocrinopathies' 'Obesity due to prohormone convertase I deficiency' SubClassOf 'Isolated congenital hypogonadotropic hypogonadism' http://www.orpha.net/ORDO/Orphanet_71529 Obesity due to melanocortin 4 receptor deficiency 'Obesity due to melanocortin 4 receptor deficiency' SubClassOf 'Obesity due to congenital leptin resistance' 'Obesity due to melanocortin 4 receptor deficiency' SubClassOf 'Obesity due to congenital leptin resistance' http://purl.obolibrary.org/obo/UBERON_0004746 prootic 'prootic' SubClassOf http://purl.obolibrary.org/obo/UBERON_0002513 'prootic' SubClassOf http://purl.obolibrary.org/obo/UBERON_0011164 http://www.ebi.ac.uk/efo/EFO_1000114 Benign Ovarian Mixed Epithelial Tumor 'Benign Ovarian Mixed Epithelial Tumor' SubClassOf 'ovarian neoplasm' 'Benign Ovarian Mixed Epithelial Tumor' SubClassOf 'ovarian neoplasm' 'Benign Ovarian Mixed Epithelial Tumor' SubClassOf 'has_disease_location' some ('female gonad' or ('part_of' some 'female gonad')) http://www.ebi.ac.uk/efo/EFO_1001446 Uterine Inversion 'Uterine Inversion' SubClassOf 'female reproductive system disease' 'Uterine Inversion' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002654 http://www.ebi.ac.uk/efo/EFO_1000115 Benign Ovarian Mucinous Tumor 'Benign Ovarian Mucinous Tumor' SubClassOf 'ovarian neoplasm' 'Benign Ovarian Mucinous Tumor' SubClassOf 'ovarian neoplasm' 'Benign Ovarian Mucinous Tumor' SubClassOf 'has_disease_location' some ('female gonad' or ('part_of' some 'female gonad')) http://www.ebi.ac.uk/efo/EFO_1001445 Tungiasis 'Tungiasis' SubClassOf 'skin disease' 'Tungiasis' SubClassOf 'parasitic infection' 'Tungiasis' SubClassOf 'has_disease_location' some ('zone of skin' or ('part_of' some 'zone of skin')) 'Tungiasis' SubClassOf 'parasitic infection' 'Tungiasis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002875 'Tungiasis' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://www.orpha.net/ORDO/Orphanet_34587 Glycogen storage disease due to LAMP-2 deficiency 'Glycogen storage disease due to LAMP-2 deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024573 http://www.ebi.ac.uk/efo/EFO_1000112 Benign Ovarian Brenner Tumor 'Benign Ovarian Brenner Tumor' SubClassOf 'ovarian neoplasm' 'Benign Ovarian Brenner Tumor' SubClassOf 'ovarian neoplasm' 'Benign Ovarian Brenner Tumor' SubClassOf 'has_disease_location' some ('female gonad' or ('part_of' some 'female gonad')) http://www.ebi.ac.uk/efo/EFO_1001444 Tularemia 'Tularemia' SubClassOf 'bacterial disease' 'Tularemia' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Tularemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000314 'Tularemia' SubClassOf 'bacterial disease' http://www.ebi.ac.uk/efo/EFO_1000113 Benign Ovarian Endometrioid Tumor 'Benign Ovarian Endometrioid Tumor' SubClassOf 'ovarian neoplasm' 'Benign Ovarian Endometrioid Tumor' SubClassOf 'endometrial neoplasm' 'Benign Ovarian Endometrioid Tumor' SubClassOf 'ovarian neoplasm' 'Benign Ovarian Endometrioid Tumor' SubClassOf 'endometrial neoplasm' 'Benign Ovarian Endometrioid Tumor' SubClassOf 'has_disease_location' some ('female gonad' or ('part_of' some 'female gonad')) http://www.ebi.ac.uk/efo/EFO_1001443 Tuberculosis, Cutaneous 'Tuberculosis, Cutaneous' SubClassOf 'Tuberculosis' 'Tuberculosis, Cutaneous' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000632 'Tuberculosis, Cutaneous' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021218 'Tuberculosis, Cutaneous' SubClassOf 'Tuberculosis' http://www.ebi.ac.uk/efo/EFO_1000110 Benign Conjunctival Neoplasm 'Benign Conjunctival Neoplasm' SubClassOf 'Conjunctival tumor' 'Benign Conjunctival Neoplasm' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021454 'Benign Conjunctival Neoplasm' SubClassOf 'has_disease_location' some ('eye' or ('part_of' some 'eye')) 'Benign Conjunctival Neoplasm' SubClassOf 'Conjunctival tumor' http://www.ebi.ac.uk/efo/EFO_1001442 Tuberculosis, Cardiovascular 'Tuberculosis, Cardiovascular' SubClassOf 'Tuberculosis' 'Tuberculosis, Cardiovascular' SubClassOf 'cardiovascular disease' 'Tuberculosis, Cardiovascular' SubClassOf 'heart disease' 'Tuberculosis, Cardiovascular' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021166 'Tuberculosis, Cardiovascular' SubClassOf 'has_disease_location' some ('cardiovascular system' or ('part_of' some 'cardiovascular system')) 'Tuberculosis, Cardiovascular' SubClassOf 'Tuberculosis' http://www.orpha.net/ORDO/Orphanet_71526 Obesity due to pro-opiomelanocortin deficiency 'Obesity due to pro-opiomelanocortin deficiency' SubClassOf 'Obesity due to congenital leptin resistance' 'Obesity due to pro-opiomelanocortin deficiency' SubClassOf 'Obesity due to congenital leptin resistance' http://www.ebi.ac.uk/efo/EFO_1000111 Benign Kidney Neoplasm 'Benign Kidney Neoplasm' SubClassOf 'kidney neoplasm' 'Benign Kidney Neoplasm' SubClassOf 'has_disease_location' some ('kidney' or ('part_of' some 'kidney')) 'Benign Kidney Neoplasm' SubClassOf 'kidney neoplasm' http://www.ebi.ac.uk/efo/EFO_1001441 Tuberculosis, Bovine 'Tuberculosis, Bovine' SubClassOf 'animal disease' 'Tuberculosis, Bovine' SubClassOf 'animal disease' http://www.ebi.ac.uk/efo/EFO_1001440 Tuberculosis, Avian 'Tuberculosis, Avian' SubClassOf 'animal disease' 'Tuberculosis, Avian' SubClassOf 'animal disease' http://www.ebi.ac.uk/efo/EFO_1000118 Benign Renal Pelvis Neoplasm 'Benign Renal Pelvis Neoplasm' SubClassOf 'kidney neoplasm' 'Benign Renal Pelvis Neoplasm' SubClassOf 'has_disease_location' some ('kidney' or ('part_of' some 'kidney')) 'Benign Renal Pelvis Neoplasm' SubClassOf 'kidney neoplasm' http://www.orpha.net/ORDO/Orphanet_398934 Malignant epithelial tumor of ovary 'Malignant epithelial tumor of ovary' SubClassOf 'ovarian neoplasm' 'Malignant epithelial tumor of ovary' SubClassOf 'carcinoma' http://purl.obolibrary.org/obo/MONDO_0018365 DisjointWith 'Malignant epithelial tumor of ovary' 'Malignant epithelial tumor of ovary' SubClassOf http://purl.obolibrary.org/obo/MONDO_0008170 'Malignant epithelial tumor of ovary' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002229 http://www.ebi.ac.uk/efo/EFO_1000119 Benign Salivary Gland Myoepithelioma 'Benign Salivary Gland Myoepithelioma' SubClassOf 'salivary gland neoplasm' 'Benign Salivary Gland Myoepithelioma' SubClassOf 'salivary gland neoplasm' 'Benign Salivary Gland Myoepithelioma' SubClassOf 'has_disease_location' some ('saliva-secreting gland' or ('part_of' some 'saliva-secreting gland')) http://www.ebi.ac.uk/efo/EFO_1001449 Vertebrobasilar insufficiency 'Vertebrobasilar insufficiency' SubClassOf 'brain infarction' 'Vertebrobasilar insufficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020674 'Vertebrobasilar insufficiency' SubClassOf 'disease has feature' some http://purl.obolibrary.org/obo/MONDO_0005299 'Vertebrobasilar insufficiency' SubClassOf 'brain infarction' http://www.ebi.ac.uk/efo/EFO_1000116 Benign Ovarian Neoplasm 'Benign Ovarian Neoplasm' SubClassOf 'ovarian neoplasm' 'Benign Ovarian Neoplasm' SubClassOf 'ovarian neoplasm' 'Benign Ovarian Neoplasm' SubClassOf 'has_disease_location' some ('female gonad' or ('part_of' some 'female gonad')) http://www.ebi.ac.uk/efo/EFO_1001448 Ventricular Outflow Obstruction 'Ventricular Outflow Obstruction' SubClassOf 'has_disease_location' some ('cardiac ventricle' or ('part_of' some 'cardiac ventricle')) 'Ventricular Outflow Obstruction' SubClassOf 'cardiovascular disease' http://www.ebi.ac.uk/efo/EFO_1000117 Benign Ovarian Surface Epithelial-Stromal Tumor 'Benign Ovarian Surface Epithelial-Stromal Tumor' SubClassOf 'ovarian neoplasm' 'Benign Ovarian Surface Epithelial-Stromal Tumor' SubClassOf 'ovarian neoplasm' 'Benign Ovarian Surface Epithelial-Stromal Tumor' SubClassOf 'has_disease_location' some ('female gonad' or ('part_of' some 'female gonad')) http://www.ebi.ac.uk/efo/EFO_1001447 Vaginal neoplasm 'Vaginal neoplasm' SubClassOf 'urogenital neoplasm' 'Vaginal neoplasm' SubClassOf 'female reproductive system disease' 'Vaginal neoplasm' SubClassOf 'neoplasm' 'Vaginal neoplasm' SubClassOf 'has_disease_location' some ('vagina' or ('part_of' some 'vagina')) 'Vaginal neoplasm' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001433 'Vaginal neoplasm' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021148 http://purl.obolibrary.org/obo/UBERON_0004742 dentary 'dentary' SubClassOf 'part_of' some 'mouth' 'dentary' SubClassOf 'develops_from' some 'mouth' 'dentary' SubClassOf http://purl.obolibrary.org/obo/UBERON_0004768 'dentary' SubClassOf 'part_of' some 'digestive system' 'dentary' SubClassOf 'develops_from' some 'mesoderm' 'dentary' SubClassOf 'part_of' some 'skeleton' 'dentary' SubClassOf 'develops_from' some 'pharyngeal arch' 'dentary' SubClassOf 'develops_from' some 'mesenchyme derived from head neural crest' 'dentary' SubClassOf http://purl.obolibrary.org/obo/UBERON_0008907 http://purl.obolibrary.org/obo/UBERON_0004744 anguloarticular 'anguloarticular' SubClassOf http://purl.obolibrary.org/obo/UBERON_0004768 'anguloarticular' SubClassOf http://purl.obolibrary.org/obo/UBERON_0002513 'anguloarticular' SubClassOf http://purl.obolibrary.org/obo/UBERON_0008907 http://purl.obolibrary.org/obo/UBERON_0004741 cleithrum 'cleithrum' SubClassOf 'develops_from' some 'ectoderm' 'cleithrum' SubClassOf 'part_of' some 'appendicular skeleton' 'cleithrum' SubClassOf 'develops_from' some 'mesoderm' 'cleithrum' SubClassOf http://purl.obolibrary.org/obo/UBERON_0008907 'cleithrum' SubClassOf http://purl.obolibrary.org/obo/UBERON_0007829 http://www.orpha.net/ORDO/Orphanet_309031 Pancreatic triacylglycerol lipase deficiency 'Pancreatic triacylglycerol lipase deficiency' SubClassOf 'Disorder of lipid absorption and transport' 'Pancreatic triacylglycerol lipase deficiency' SubClassOf 'Disorder of lipid absorption and transport' http://www.orpha.net/ORDO/Orphanet_71517 Rapid-onset dystonia-parkinsonism 'Rapid-onset dystonia-parkinsonism' SubClassOf 'Persistent combined dystonia' 'Rapid-onset dystonia-parkinsonism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021095 'Rapid-onset dystonia-parkinsonism' SubClassOf 'Persistent combined dystonia' http://www.orpha.net/ORDO/Orphanet_71518 Benign paroxysmal torticollis of infancy 'Benign paroxysmal torticollis of infancy' SubClassOf 'Paroxysmal dystonia' 'Benign paroxysmal torticollis of infancy' SubClassOf 'Paroxysmal dystonia' http://www.ebi.ac.uk/efo/EFO_1000125 Bladder Adenocarcinoma 'Bladder Adenocarcinoma' SubClassOf 'bladder carcinoma' 'Bladder Adenocarcinoma' SubClassOf 'adenocarcinoma' 'Bladder Adenocarcinoma' SubClassOf 'bladder carcinoma' 'Bladder Adenocarcinoma' SubClassOf 'has_disease_location' some ('urinary bladder' or ('part_of' some 'urinary bladder')) 'Bladder Adenocarcinoma' SubClassOf 'adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_1001457 cognitive disorder 'cognitive disorder' SubClassOf 'mental or behavioural disorder' 'cognitive disorder' SubClassOf 'mental or behavioural disorder' 'cognitive disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002025 http://www.ebi.ac.uk/efo/EFO_1001456 central nervous system infection 'central nervous system infection' SubClassOf 'central nervous system disease' 'central nervous system infection' SubClassOf 'central nervous system disease' 'central nervous system infection' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020010 http://www.ebi.ac.uk/efo/EFO_1000126 Bladder Flat Intraepithelial Lesion 'Bladder Flat Intraepithelial Lesion' SubClassOf 'neoplasm' 'Bladder Flat Intraepithelial Lesion' SubClassOf 'neoplasm' 'Bladder Flat Intraepithelial Lesion' SubClassOf 'bladder tumor' 'Bladder Flat Intraepithelial Lesion' SubClassOf 'has_disease_location' some ('urinary bladder' or ('part_of' some 'urinary bladder')) http://www.ebi.ac.uk/efo/EFO_1001455 auditory system disease 'auditory system disease' SubClassOf 'sensory system disease' 'auditory system disease' SubClassOf 'sensory system disease' 'auditory system disease' EquivalentTo 'disease' and ('has_disease_location' some ('ear' or ('part_of' some 'ear'))) http://www.ebi.ac.uk/efo/EFO_1000123 Bile Duct Adenoma 'Bile Duct Adenoma' SubClassOf 'biliary tract disease' 'Bile Duct Adenoma' SubClassOf 'adenoma' 'Bile Duct Adenoma' SubClassOf 'liver neoplasm' 'Bile Duct Adenoma' SubClassOf 'has_disease_location' some ('bile duct' or ('part_of' some 'bile duct')) 'Bile Duct Adenoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021662 'Bile Duct Adenoma' SubClassOf 'adenoma' 'Bile Duct Adenoma' SubClassOf 'Digestive System Adenoma' http://www.ebi.ac.uk/efo/EFO_1000124 Biphasic Mesothelioma 'Biphasic Mesothelioma' SubClassOf 'respiratory system neoplasm' 'Biphasic Mesothelioma' SubClassOf 'mesothelioma' 'Biphasic Mesothelioma' SubClassOf 'Malignant Mesothelioma' 'Biphasic Mesothelioma' SubClassOf 'has_disease_location' some ('pleura' or ('part_of' some 'pleura')) 'Biphasic Mesothelioma' SubClassOf 'mesothelioma' http://www.ebi.ac.uk/efo/EFO_1001454 amnesia 'amnesia' SubClassOf 'cognitive disorder' 'amnesia' SubClassOf 'has_disease_location' some ('brain' or ('part_of' some 'brain')) 'amnesia' SubClassOf 'cognitive disorder' http://www.ebi.ac.uk/efo/EFO_1000121 Benign Smooth Muscle Neoplasm 'Benign Smooth Muscle Neoplasm' SubClassOf 'smooth muscle tumor' 'Benign Smooth Muscle Neoplasm' SubClassOf 'smooth muscle tumor' 'Benign Smooth Muscle Neoplasm' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003061 'Benign Smooth Muscle Neoplasm' SubClassOf 'has_disease_location' some ('smooth muscle' or ('part_of' some 'smooth muscle')) http://www.ebi.ac.uk/efo/EFO_1001453 Zoster Sine Herpete 'Zoster Sine Herpete' SubClassOf 'Herpes Zoster' 'Zoster Sine Herpete' SubClassOf 'Herpes Zoster' http://www.ebi.ac.uk/efo/EFO_1000122 Benign Thyroid Gland Neoplasm 'Benign Thyroid Gland Neoplasm' SubClassOf 'thyroid neoplasm' 'Benign Thyroid Gland Neoplasm' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015074 'Benign Thyroid Gland Neoplasm' SubClassOf 'neoplasm' 'Benign Thyroid Gland Neoplasm' SubClassOf 'has_disease_location' some ('thyroid gland' or ('part_of' some 'thyroid gland')) 'Benign Thyroid Gland Neoplasm' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000627 http://www.ebi.ac.uk/efo/EFO_1001452 Yellow Nail Syndrome 'Yellow Nail Syndrome' SubClassOf 'skin disease' 'Yellow Nail Syndrome' SubClassOf 'Syndromic lymphedema' 'Yellow Nail Syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017017 'Yellow Nail Syndrome' SubClassOf 'Milroy disease' 'Yellow Nail Syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018722 'Yellow Nail Syndrome' SubClassOf 'skin disease' 'Yellow Nail Syndrome' SubClassOf 'has_disease_location' some ('nail' or ('part_of' some 'nail')) 'Yellow Nail Syndrome' SubClassOf 'Syndromic nail anomaly' http://www.ebi.ac.uk/efo/EFO_1001451 X-Linked Combined Immunodeficiency Diseases 'X-Linked Combined Immunodeficiency Diseases' SubClassOf 'Rare genetic immune disease' 'X-Linked Combined Immunodeficiency Diseases' SubClassOf 'Combined T and B cell immunodeficiency' 'X-Linked Combined Immunodeficiency Diseases' SubClassOf 'Rare genetic immune disease' http://www.ebi.ac.uk/efo/EFO_1000120 Benign Skin Appendage Neoplasm 'Benign Skin Appendage Neoplasm' SubClassOf 'skin neoplasm' 'Benign Skin Appendage Neoplasm' SubClassOf 'skin neoplasm' 'Benign Skin Appendage Neoplasm' SubClassOf 'has_disease_location' some ('sweat gland' or ('part_of' some 'sweat gland')) 'Benign Skin Appendage Neoplasm' SubClassOf 'has_disease_location' some ('hair follicle' or ('part_of' some 'hair follicle')) http://www.ebi.ac.uk/efo/EFO_1001450 Wolff-Parkinson-White Syndrome 'Wolff-Parkinson-White Syndrome' SubClassOf 'heart disease' 'Wolff-Parkinson-White Syndrome' SubClassOf 'heart disease' 'Wolff-Parkinson-White Syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000992 'Wolff-Parkinson-White Syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003847 http://www.ebi.ac.uk/efo/EFO_1000129 Bladder Small Cell Neuroendocrine Carcinoma 'Bladder Small Cell Neuroendocrine Carcinoma' SubClassOf 'bladder carcinoma' 'Bladder Small Cell Neuroendocrine Carcinoma' SubClassOf 'has_disease_location' some ('urinary bladder' or ('part_of' some 'urinary bladder')) 'Bladder Small Cell Neuroendocrine Carcinoma' SubClassOf 'bladder carcinoma' 'Bladder Small Cell Neuroendocrine Carcinoma' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Bladder Small Cell Neuroendocrine Carcinoma' SubClassOf 'small cell carcinoma' http://www.ebi.ac.uk/efo/EFO_1000127 Bladder Inflammatory Myofibroblastic Tumor 'Bladder Inflammatory Myofibroblastic Tumor' SubClassOf 'neoplasm' 'Bladder Inflammatory Myofibroblastic Tumor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015798 'Bladder Inflammatory Myofibroblastic Tumor' SubClassOf 'has_disease_location' some ('urinary bladder' or ('part_of' some 'urinary bladder')) 'Bladder Inflammatory Myofibroblastic Tumor' SubClassOf 'neoplasm' 'Bladder Inflammatory Myofibroblastic Tumor' SubClassOf 'bladder tumor' http://www.ebi.ac.uk/efo/EFO_1001459 diabetic foot 'diabetic foot' SubClassOf 'diabetic angiopathy' 'diabetic foot' SubClassOf 'diabetic angiopathy' 'diabetic foot' SubClassOf 'has_disease_location' some ('foot' or ('part_of' some 'foot')) http://www.ebi.ac.uk/efo/EFO_1000128 Bladder Paraganglioma 'Bladder Paraganglioma' SubClassOf 'extra-adrenal sympathetic paraganglioma' 'Bladder Paraganglioma' SubClassOf 'extra-adrenal sympathetic paraganglioma' 'Bladder Paraganglioma' SubClassOf 'has_disease_location' some ('urinary bladder' or ('part_of' some 'urinary bladder')) http://www.ebi.ac.uk/efo/EFO_1001458 diabetic cardiomyopathy 'diabetic cardiomyopathy' SubClassOf 'cardiomyopathy' 'diabetic cardiomyopathy' SubClassOf 'cardiomyopathy' 'diabetic cardiomyopathy' SubClassOf 'has_disease_location' some ('heart' or ('part_of' some 'heart')) http://www.ebi.ac.uk/efo/EFO_1001460 diverticulitis 'diverticulitis' SubClassOf 'gastroenteritis' 'diverticulitis' SubClassOf 'disease has feature' some 'dysentery' 'diverticulitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021166 'diverticulitis' SubClassOf 'gastroenteritis' 'diverticulitis' SubClassOf 'disease has feature' some http://purl.obolibrary.org/obo/MONDO_0002203 'diverticulitis' SubClassOf 'intestinal disease' http://purl.obolibrary.org/obo/UBERON_0002106 spleen 'spleen' SubClassOf 'part_of' some 'abdomen' 'spleen' SubClassOf 'part_of' some 'digestive system' 'spleen' SubClassOf 'develops_from' some 'stomach' 'spleen' SubClassOf 'develops_from' some 'blood island' 'spleen' SubClassOf 'develops_from' some 'primordium' http://purl.obolibrary.org/obo/UBERON_0002107 liver 'liver' SubClassOf 'gland' 'liver' SubClassOf 'part_of' some 'hepatobiliary system' 'liver' SubClassOf 'develops_from' some 'liver primordium' 'liver' SubClassOf 'part_of' some 'endocrine system' 'liver' DisjointWith http://purl.obolibrary.org/obo/UBERON_0010264 'liver' SubClassOf http://purl.obolibrary.org/obo/UBERON_0006925 'liver' SubClassOf 'part_of' some 'abdomen' 'liver' SubClassOf 'develops_from' some 'trunk mesenchyme' 'liver' SubClassOf http://purl.obolibrary.org/obo/UBERON_0002365 'liver' SubClassOf 'part_of' some 'digestive system' http://purl.obolibrary.org/obo/UBERON_0002108 small intestine 'small intestine' SubClassOf 'part_of' some 'digestive system' 'small intestine' SubClassOf 'part_of' some 'intestine' http://www.ebi.ac.uk/efo/EFO_1000136 Borderline Ovarian Clear Cell Tumor 'Borderline Ovarian Clear Cell Tumor' SubClassOf 'ovarian neoplasm' 'Borderline Ovarian Clear Cell Tumor' SubClassOf 'ovarian neoplasm' 'Borderline Ovarian Clear Cell Tumor' SubClassOf 'has_disease_location' some ('female gonad' or ('part_of' some 'female gonad')) http://www.ebi.ac.uk/efo/EFO_1000137 Borderline Ovarian Endometrioid Tumor 'Borderline Ovarian Endometrioid Tumor' SubClassOf 'ovarian neoplasm' 'Borderline Ovarian Endometrioid Tumor' SubClassOf 'has_disease_location' some ('female gonad' or ('part_of' some 'female gonad')) 'Borderline Ovarian Endometrioid Tumor' SubClassOf 'ovarian neoplasm' http://www.ebi.ac.uk/efo/EFO_1001467 Hypereosinophilic syndrome 'Hypereosinophilic syndrome' SubClassOf 'Rare genetic hematologic disease' 'Hypereosinophilic syndrome' SubClassOf 'Non-familial restrictive cardiomyopathy' 'Hypereosinophilic syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Hypereosinophilic syndrome' SubClassOf 'disease has feature' some 'chronic myeloproliferative disorder' 'Hypereosinophilic syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044972 'Hypereosinophilic syndrome' SubClassOf 'Rare genetic hematologic disease' http://www.ebi.ac.uk/efo/EFO_1000134 Borderline Fallopian Tube Serous Neoplasm 'Borderline Fallopian Tube Serous Neoplasm' SubClassOf 'uterine neoplasm' 'Borderline Fallopian Tube Serous Neoplasm' SubClassOf 'has_disease_location' some ('fallopian tube' or ('part_of' some 'fallopian tube')) 'Borderline Fallopian Tube Serous Neoplasm' SubClassOf 'uterine neoplasm' http://www.ebi.ac.uk/efo/EFO_1001466 Graves ophthalmopathy 'Graves ophthalmopathy' SubClassOf 'Graves disease' 'Graves ophthalmopathy' SubClassOf 'has_disease_location' some ('eye' or ('part_of' some 'eye')) 'Graves ophthalmopathy' SubClassOf 'Graves disease' http://www.orpha.net/ORDO/Orphanet_2701 Noonan syndrome-like disorder with loose anagen hair 'Noonan syndrome-like disorder with loose anagen hair' SubClassOf 'Alopecia' 'Noonan syndrome-like disorder with loose anagen hair' SubClassOf 'Syndromic developmental defect of the eye' 'Noonan syndrome-like disorder with loose anagen hair' SubClassOf 'Noonan syndrome and Noonan-related syndrome' 'Noonan syndrome-like disorder with loose anagen hair' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007 'Noonan syndrome-like disorder with loose anagen hair' SubClassOf 'Syndromic developmental defect of the eye' 'Noonan syndrome-like disorder with loose anagen hair' SubClassOf 'Noonan syndrome and Noonan-related syndrome' 'Noonan syndrome-like disorder with loose anagen hair' SubClassOf 'Loose anagen syndrome' 'Noonan syndrome-like disorder with loose anagen hair' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021034 http://www.ebi.ac.uk/efo/EFO_1000135 Borderline Ovarian Brenner Tumor 'Borderline Ovarian Brenner Tumor' SubClassOf 'ovarian neoplasm' 'Borderline Ovarian Brenner Tumor' SubClassOf 'ovarian neoplasm' 'Borderline Ovarian Brenner Tumor' SubClassOf 'has_disease_location' some ('female gonad' or ('part_of' some 'female gonad')) http://www.ebi.ac.uk/efo/EFO_1001465 gliosarcoma 'gliosarcoma' SubClassOf 'glioblastoma multiforme' 'gliosarcoma' SubClassOf 'has_disease_location' some 'glial brain cell' 'gliosarcoma' SubClassOf 'has_disease_location' some ('brain' or ('part_of' some 'brain')) 'gliosarcoma' SubClassOf 'brain glioblastoma' 'gliosarcoma' SubClassOf 'glioblastoma multiforme' http://www.ebi.ac.uk/efo/EFO_1000132 Bone Epithelioid Hemangioma 'Bone Epithelioid Hemangioma' SubClassOf 'bone neoplasm' 'Bone Epithelioid Hemangioma' SubClassOf 'has_disease_location' some ('bone' or ('part_of' some 'bone')) 'Bone Epithelioid Hemangioma' SubClassOf 'bone neoplasm' http://www.ebi.ac.uk/efo/EFO_1000133 Borderline Exocrine Pancreatic Neoplasm 'Borderline Exocrine Pancreatic Neoplasm' SubClassOf 'pancreatic neoplasm' 'Borderline Exocrine Pancreatic Neoplasm' SubClassOf 'has_disease_location' some ('pancreas' or ('part_of' some 'pancreas')) 'Borderline Exocrine Pancreatic Neoplasm' SubClassOf 'pancreatic neoplasm' http://www.ebi.ac.uk/efo/EFO_1001463 gastroenteritis 'gastroenteritis' SubClassOf 'digestive system disease' 'gastroenteritis' SubClassOf 'intestinal disease' 'gastroenteritis' SubClassOf 'digestive system disease' 'gastroenteritis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021166 'gastroenteritis' SubClassOf 'disease has feature' some 'dysentery' http://www.ebi.ac.uk/efo/EFO_1000130 Bladder Squamous Cell Carcinoma 'Bladder Squamous Cell Carcinoma' SubClassOf 'squamous cell carcinoma' 'Bladder Squamous Cell Carcinoma' SubClassOf 'bladder carcinoma' 'Bladder Squamous Cell Carcinoma' SubClassOf 'has_disease_location' some ('urinary bladder' or ('part_of' some 'urinary bladder')) 'Bladder Squamous Cell Carcinoma' SubClassOf 'squamous cell carcinoma' 'Bladder Squamous Cell Carcinoma' SubClassOf 'bladder carcinoma' http://www.ebi.ac.uk/efo/EFO_1001462 erysipelas 'erysipelas' SubClassOf 'streptococcal infection' 'erysipelas' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021201 'erysipelas' SubClassOf 'streptococcal infection' 'erysipelas' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024295 http://www.ebi.ac.uk/efo/EFO_1000131 Blast Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive 'Blast Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive' SubClassOf 'leukemia' 'Blast Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive' SubClassOf 'myeloid neoplasm' 'Blast Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive' SubClassOf 'leukemia' 'Blast Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive' SubClassOf 'chronic myelogenous leukemia' 'Blast Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive' SubClassOf 'has_disease_location' some 'myeloid cell' 'Blast Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive' SubClassOf 'has modifier' some 'chronic' http://www.ebi.ac.uk/efo/EFO_1001461 endothelial dysfunction 'endothelial dysfunction' SubClassOf 'vascular disease' 'endothelial dysfunction' SubClassOf 'has_disease_location' some 'endothelial cell' 'endothelial dysfunction' SubClassOf 'vascular disease' 'endothelial dysfunction' SubClassOf 'has_disease_location' some ('endothelium' or ('part_of' some 'endothelium')) http://www.ebi.ac.uk/efo/EFO_1000138 Borderline Ovarian Mucinous Tumor 'Borderline Ovarian Mucinous Tumor' SubClassOf 'ovarian neoplasm' 'Borderline Ovarian Mucinous Tumor' SubClassOf 'has_disease_location' some ('female gonad' or ('part_of' some 'female gonad')) 'Borderline Ovarian Mucinous Tumor' SubClassOf 'ovarian neoplasm' http://www.ebi.ac.uk/efo/EFO_1000139 Borderline Ovarian Serous Tumor 'Borderline Ovarian Serous Tumor' SubClassOf 'ovarian neoplasm' 'Borderline Ovarian Serous Tumor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016093 'Borderline Ovarian Serous Tumor' SubClassOf 'has_disease_location' some ('female gonad' or ('part_of' some 'female gonad')) 'Borderline Ovarian Serous Tumor' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0016093 and http://purl.obolibrary.org/obo/MONDO_0037255 'Borderline Ovarian Serous Tumor' SubClassOf 'ovarian neoplasm' 'Borderline Ovarian Serous Tumor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0037255 http://www.ebi.ac.uk/efo/EFO_1001469 Mantle cell lymphoma 'Mantle cell lymphoma' SubClassOf 'non-Hodgkins lymphoma' 'Mantle cell lymphoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017595 'Mantle cell lymphoma' SubClassOf 'non-Hodgkins lymphoma' 'Mantle cell lymphoma' EquivalentTo 'lymphoma' and ('has_disease_location' some 'mantle cell') http://purl.obolibrary.org/obo/UBERON_0002102 forelimb 'forelimb' SubClassOf http://purl.obolibrary.org/obo/UBERON_0004710 http://purl.obolibrary.org/obo/UBERON_0002103 hindlimb 'hindlimb' SubClassOf http://purl.obolibrary.org/obo/UBERON_0004709 http://www.orpha.net/ORDO/Orphanet_262092 Partial deletion of the long arm of chromosome 11 'Partial deletion of the long arm of chromosome 11' SubClassOf 'Partial deletion of chromosome 11' 'Partial deletion of the long arm of chromosome 11' SubClassOf 'Partial deletion of chromosome 11' http://purl.obolibrary.org/obo/UBERON_0002100 trunk 'trunk' DisjointWith http://purl.obolibrary.org/obo/UBERON_0014479 http://purl.obolibrary.org/obo/UBERON_0002101 limb 'limb' SubClassOf 'appendage' 'limb' SubClassOf 'develops_from' some 'embryonic structure' 'limb' SubClassOf http://purl.obolibrary.org/obo/UBERON_0004708 http://www.ebi.ac.uk/efo/EFO_1001471 Merkel cell skin cancer 'Merkel cell skin cancer' SubClassOf 'skin neoplasm' 'Merkel cell skin cancer' SubClassOf 'has_disease_location' some 'merkel cell' 'Merkel cell skin cancer' SubClassOf 'skin neoplasm' 'Merkel cell skin cancer' SubClassOf 'has_disease_location' some ('zone of skin' or ('part_of' some 'zone of skin')) http://www.ebi.ac.uk/efo/EFO_1000140 Borderline Ovarian Surface Epithelial-Stromal Tumor 'Borderline Ovarian Surface Epithelial-Stromal Tumor' SubClassOf 'ovarian neoplasm' 'Borderline Ovarian Surface Epithelial-Stromal Tumor' SubClassOf 'has_disease_location' some ('female gonad' or ('part_of' some 'female gonad')) 'Borderline Ovarian Surface Epithelial-Stromal Tumor' SubClassOf 'ovarian neoplasm' http://www.orpha.net/ORDO/Orphanet_309015 Familial lipoprotein lipase deficiency 'Familial lipoprotein lipase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018637 'Familial lipoprotein lipase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0037748 'Familial lipoprotein lipase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001336 http://www.ebi.ac.uk/efo/EFO_1000147 C-Cell Hyperplasia 'C-Cell Hyperplasia' SubClassOf 'thyroid disease' 'C-Cell Hyperplasia' SubClassOf 'hyperplasia' 'C-Cell Hyperplasia' SubClassOf 'thyroid disease' 'C-Cell Hyperplasia' SubClassOf 'has_disease_location' some ('thyroid gland' or ('part_of' some 'thyroid gland')) 'C-Cell Hyperplasia' SubClassOf 'hyperplasia' http://www.ebi.ac.uk/efo/EFO_1001479 Tumor Lysis Syndrome 'Tumor Lysis Syndrome' SubClassOf 'metabolic disease' 'Tumor Lysis Syndrome' SubClassOf 'metabolic disease' 'Tumor Lysis Syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024297 http://www.ebi.ac.uk/efo/EFO_1000148 Calcifying Fibrous Tumor 'Calcifying Fibrous Tumor' SubClassOf 'neoplasm' 'Calcifying Fibrous Tumor' SubClassOf 'neoplasm' 'Calcifying Fibrous Tumor' SubClassOf 'benign neoplasm' http://www.ebi.ac.uk/efo/EFO_1001478 systemic inflammatory response syndrome 'systemic inflammatory response syndrome' SubClassOf 'inflammation' 'systemic inflammatory response syndrome' SubClassOf 'inflammation' http://www.ebi.ac.uk/efo/EFO_1000145 breast fibrosis 'breast fibrosis' SubClassOf 'breast disease' 'breast fibrosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003724 'breast fibrosis' EquivalentTo 'fibrosis' and ('has_disease_location' some 'breast') 'breast fibrosis' SubClassOf 'neoplasm' 'breast fibrosis' SubClassOf 'has_disease_location' some ('breast' or ('part_of' some 'breast')) http://www.ebi.ac.uk/efo/EFO_1001477 Systemic capillary leak syndrome 'Systemic capillary leak syndrome' SubClassOf 'vascular disease' 'Systemic capillary leak syndrome' SubClassOf 'vascular disease' http://www.ebi.ac.uk/efo/EFO_1000146 Breast Mucosa-Associated Lymphoid Tissue Lymphoma 'Breast Mucosa-Associated Lymphoid Tissue Lymphoma' SubClassOf 'lymphoma' 'Breast Mucosa-Associated Lymphoid Tissue Lymphoma' SubClassOf 'MALT lymphoma' 'Breast Mucosa-Associated Lymphoid Tissue Lymphoma' SubClassOf 'has_disease_location' some ('breast' or ('part_of' some 'breast')) 'Breast Mucosa-Associated Lymphoid Tissue Lymphoma' SubClassOf 'breast carcinoma' 'Breast Mucosa-Associated Lymphoid Tissue Lymphoma' SubClassOf 'lymphoma' 'Breast Mucosa-Associated Lymphoid Tissue Lymphoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000653 http://www.ebi.ac.uk/efo/EFO_1001476 streptococcal infection 'streptococcal infection' SubClassOf 'bacterial disease' 'streptococcal infection' SubClassOf 'bacterial disease' 'streptococcal infection' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021679 http://www.ebi.ac.uk/efo/EFO_1000143 Breast Carcinoma by Gene Expression Profile 'Breast Carcinoma by Gene Expression Profile' SubClassOf 'breast carcinoma' 'Breast Carcinoma by Gene Expression Profile' SubClassOf 'breast carcinoma' 'Breast Carcinoma by Gene Expression Profile' SubClassOf 'has_disease_location' some ('breast' or ('part_of' some 'breast')) http://www.ebi.ac.uk/efo/EFO_1001475 schistosomiasis 'schistosomiasis' SubClassOf 'parasitic infection' 'schistosomiasis' SubClassOf 'Helminthiasis' 'schistosomiasis' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'schistosomiasis' SubClassOf 'parasitic infection' http://www.ebi.ac.uk/efo/EFO_1000144 Breast Diffuse Large B-Cell Lymphoma 'Breast Diffuse Large B-Cell Lymphoma' SubClassOf 'lymphoma' 'Breast Diffuse Large B-Cell Lymphoma' SubClassOf 'has_disease_location' some 'lymphocyte of B lineage' 'Breast Diffuse Large B-Cell Lymphoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000653 'Breast Diffuse Large B-Cell Lymphoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000621 'Breast Diffuse Large B-Cell Lymphoma' SubClassOf 'lymphoma' 'Breast Diffuse Large B-Cell Lymphoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003661 'Breast Diffuse Large B-Cell Lymphoma' SubClassOf 'diffuse large B-cell lymphoma' 'Breast Diffuse Large B-Cell Lymphoma' SubClassOf 'has_disease_location' some ('breast' or ('part_of' some 'breast')) http://www.ebi.ac.uk/efo/EFO_1001474 pneumococcal pneumonia 'pneumococcal pneumonia' SubClassOf 'pneumococcal infection' 'pneumococcal pneumonia' SubClassOf 'pneumococcal infection' http://www.ebi.ac.uk/efo/EFO_1000141 Brain Stem Glioblastoma 'Brain Stem Glioblastoma' SubClassOf 'brain glioblastoma' 'Brain Stem Glioblastoma' SubClassOf 'has_disease_location' some ('brainstem' or ('part_of' some 'brainstem')) 'Brain Stem Glioblastoma' SubClassOf 'brain glioblastoma' http://www.ebi.ac.uk/efo/EFO_1001473 Non-familial restrictive cardiomyopathy 'Non-familial restrictive cardiomyopathy' SubClassOf 'cardiomyopathy' 'Non-familial restrictive cardiomyopathy' SubClassOf 'restrictive cardiomyopathy' 'Non-familial restrictive cardiomyopathy' SubClassOf 'cardiomyopathy' http://www.ebi.ac.uk/efo/EFO_1000142 Brain Stem Glioma 'Brain Stem Glioma' SubClassOf 'brain neoplasm' 'Brain Stem Glioma' SubClassOf 'brain neoplasm' 'Brain Stem Glioma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0005499 'Brain Stem Glioma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002912 'Brain Stem Glioma' SubClassOf 'has_disease_location' some ('brainstem' or ('part_of' some 'brainstem')) http://www.ebi.ac.uk/efo/EFO_1001472 Myelitis 'Myelitis' SubClassOf 'central nervous system infection' 'Myelitis' SubClassOf 'central nervous system infection' 'Myelitis' SubClassOf 'encephalomyelitis' 'Myelitis' SubClassOf 'spinal cord disease' http://www.ebi.ac.uk/efo/EFO_0001824 hormone role 'hormone role' SubClassOf 'inheres_in' some 'chemical entity' http://www.ebi.ac.uk/efo/EFO_1000149 Calcifying Nested Epithelial Stromal Tumor of the Liver 'Calcifying Nested Epithelial Stromal Tumor of the Liver' SubClassOf 'liver neoplasm' 'Calcifying Nested Epithelial Stromal Tumor of the Liver' SubClassOf 'has_disease_location' some ('liver' or ('part_of' some 'liver')) 'Calcifying Nested Epithelial Stromal Tumor of the Liver' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002691 'Calcifying Nested Epithelial Stromal Tumor of the Liver' SubClassOf 'neoplasm' http://www.ebi.ac.uk/efo/EFO_1000150 Cardiac Rhabdomyoma 'Cardiac Rhabdomyoma' SubClassOf 'neoplasm' 'Cardiac Rhabdomyoma' SubClassOf 'heart disease' 'Cardiac Rhabdomyoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021450 'Cardiac Rhabdomyoma' SubClassOf 'neoplasm' 'Cardiac Rhabdomyoma' SubClassOf 'heart disease' 'Cardiac Rhabdomyoma' SubClassOf 'has_disease_location' some ('heart' or ('part_of' some 'heart')) 'Cardiac Rhabdomyoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0036688 http://www.ebi.ac.uk/efo/EFO_1001482 cardiotoxicity 'cardiotoxicity' SubClassOf 'has_disease_location' some 'heart' http://www.ebi.ac.uk/efo/EFO_1001481 enterocolitis 'enterocolitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003847 http://www.ebi.ac.uk/efo/EFO_1000151 Cavernous Hemangioma 'Cavernous Hemangioma' SubClassOf 'hemangioma' 'Cavernous Hemangioma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003159 'Cavernous Hemangioma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002334 'Cavernous Hemangioma' SubClassOf 'hemangioma' http://www.ebi.ac.uk/efo/EFO_1001480 metastatic colorectal cancer 'metastatic colorectal cancer' SubClassOf 'has_disease_location' some 'large intestine' http://www.orpha.net/ORDO/Orphanet_309020 Familial apolipoprotein C-II deficiency 'Familial apolipoprotein C-II deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018637 'Familial apolipoprotein C-II deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001336 http://www.orpha.net/ORDO/Orphanet_309025 Mevalonate kinase deficiency 'Mevalonate kinase deficiency' SubClassOf 'Sterol biosynthesis disorder' 'Mevalonate kinase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017370 'Mevalonate kinase deficiency' SubClassOf 'Sterol biosynthesis disorder' 'Mevalonate kinase deficiency' SubClassOf 'Hereditary periodic fever syndrome' 'Mevalonate kinase deficiency' SubClassOf 'Rare syndromic dyslipidemia' http://www.ebi.ac.uk/efo/EFO_1000158 Central Nervous System Neoplasm 'Central Nervous System Neoplasm' SubClassOf 'central nervous system disease' 'Central Nervous System Neoplasm' SubClassOf 'neoplasm' 'Central Nervous System Neoplasm' SubClassOf 'central nervous system disease' 'Central Nervous System Neoplasm' SubClassOf 'neoplasm' 'Central Nervous System Neoplasm' SubClassOf 'has_disease_location' some ('central nervous system' or ('part_of' some 'central nervous system')) 'Central Nervous System Neoplasm' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021248 http://www.ebi.ac.uk/efo/EFO_1000159 Cerebellar Liponeurocytoma 'Cerebellar Liponeurocytoma' SubClassOf 'brain neoplasm' 'Cerebellar Liponeurocytoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002913 'Cerebellar Liponeurocytoma' SubClassOf 'has_disease_location' some ('cerebellum' or ('part_of' some 'cerebellum')) 'Cerebellar Liponeurocytoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016726 'Cerebellar Liponeurocytoma' SubClassOf 'neoplasm' http://www.ebi.ac.uk/efo/EFO_1001489 skin and soft tissue Staphylococcus aureus infection 'skin and soft tissue Staphylococcus aureus infection' SubClassOf 'skin disease' 'skin and soft tissue Staphylococcus aureus infection' SubClassOf 'has_disease_location' some 'zone of skin' http://www.ebi.ac.uk/efo/EFO_1000156 Central Nervous System Anaplastic Large Cell Lymphoma 'Central Nervous System Anaplastic Large Cell Lymphoma' SubClassOf 'anaplastic large cell lymphoma' 'Central Nervous System Anaplastic Large Cell Lymphoma' SubClassOf 'central nervous system cancer' 'Central Nervous System Anaplastic Large Cell Lymphoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020633 'Central Nervous System Anaplastic Large Cell Lymphoma' SubClassOf 'anaplastic large cell lymphoma' 'Central Nervous System Anaplastic Large Cell Lymphoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044887 'Central Nervous System Anaplastic Large Cell Lymphoma' SubClassOf 'has_disease_location' some ('central nervous system' or ('part_of' some 'central nervous system')) http://www.ebi.ac.uk/efo/EFO_1000157 Central Nervous System Lymphoma 'Central Nervous System Lymphoma' SubClassOf 'central nervous system cancer' 'Central Nervous System Lymphoma' SubClassOf 'lymphoma' 'Central Nervous System Lymphoma' SubClassOf 'neoplasm of mature B-cells' 'Central Nervous System Lymphoma' SubClassOf 'central nervous system cancer' 'Central Nervous System Lymphoma' SubClassOf 'lymphoma' 'Central Nervous System Lymphoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000621 'Central Nervous System Lymphoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017343 'Central Nervous System Lymphoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017207 'Central Nervous System Lymphoma' SubClassOf 'has_disease_location' some ('central nervous system' or ('part_of' some 'central nervous system')) 'Central Nervous System Lymphoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003641 http://www.ebi.ac.uk/efo/EFO_1000154 Cecum Neuroendocrine Tumor G1 'Cecum Neuroendocrine Tumor G1' SubClassOf 'colonic neoplasm' 'Cecum Neuroendocrine Tumor G1' SubClassOf 'carcinoid tumor' 'Cecum Neuroendocrine Tumor G1' SubClassOf 'colonic neoplasm' 'Cecum Neuroendocrine Tumor G1' SubClassOf 'cecal neoplasm' 'Cecum Neuroendocrine Tumor G1' SubClassOf 'Colon Neuroendocrine Tumor G1' 'Cecum Neuroendocrine Tumor G1' SubClassOf 'has_disease_location' some ('caecum' or ('part_of' some 'caecum')) 'Cecum Neuroendocrine Tumor G1' SubClassOf 'carcinoid tumor' http://www.ebi.ac.uk/efo/EFO_1001486 primary biliary cirrhosis 'primary biliary cirrhosis' SubClassOf 'biliary liver cirrhosis' 'primary biliary cirrhosis' SubClassOf 'cirrhosis of liver' 'primary biliary cirrhosis' SubClassOf 'biliary liver cirrhosis' 'primary biliary cirrhosis' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'primary biliary cirrhosis' SubClassOf 'biliary tract disease' http://www.ebi.ac.uk/efo/EFO_1000155 Cecum Villous Adenoma 'Cecum Villous Adenoma' SubClassOf 'colorectal adenoma' 'Cecum Villous Adenoma' SubClassOf 'colonic neoplasm' 'Cecum Villous Adenoma' SubClassOf 'has_disease_location' some ('caecum' or ('part_of' some 'caecum')) 'Cecum Villous Adenoma' SubClassOf 'colorectal adenoma' 'Cecum Villous Adenoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021271 'Cecum Villous Adenoma' SubClassOf 'cecal neoplasm' http://www.ebi.ac.uk/efo/EFO_1001485 acromegaly 'acromegaly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021148 'acromegaly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018397 'acromegaly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0007052 'acromegaly' SubClassOf 'hyperpituitarism' http://www.ebi.ac.uk/efo/EFO_1000152 Cavernous Hemangioma of the Face 'Cavernous Hemangioma of the Face' SubClassOf 'neoplasm' 'Cavernous Hemangioma of the Face' SubClassOf 'neoplasm' 'Cavernous Hemangioma of the Face' SubClassOf 'Cavernous Hemangioma' 'Cavernous Hemangioma of the Face' SubClassOf 'head and neck neoplasia' 'Cavernous Hemangioma of the Face' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044987 http://www.ebi.ac.uk/efo/EFO_1001484 pain agnosia 'pain agnosia' SubClassOf 'agnosia' 'pain agnosia' SubClassOf 'agnosia' http://www.ebi.ac.uk/efo/EFO_1000153 obsolete_cecum adenocarcinoma 'obsolete_cecum adenocarcinoma' SubClassOf 'obsolete class' 'obsolete_cecum adenocarcinoma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001483 non-obstructive coronary artery disease 'non-obstructive coronary artery disease' SubClassOf 'vascular disease' 'non-obstructive coronary artery disease' SubClassOf 'has_disease_location' some 'coronary artery' http://www.orpha.net/ORDO/Orphanet_309028 Disorder of lipid absorption and transport 'Disorder of lipid absorption and transport' SubClassOf 'Disorder of lipid metabolism' 'Disorder of lipid absorption and transport' SubClassOf 'pancreas disease' 'Disorder of lipid absorption and transport' SubClassOf 'Disorder of lipid metabolism' 'Disorder of lipid absorption and transport' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://www.ebi.ac.uk/efo/EFO_1000161 Cervical Adenoid Cystic Carcinoma 'Cervical Adenoid Cystic Carcinoma' SubClassOf 'cervical carcinoma' 'Cervical Adenoid Cystic Carcinoma' SubClassOf 'adenoid cystic carcinoma' 'Cervical Adenoid Cystic Carcinoma' SubClassOf 'cervical carcinoma' 'Cervical Adenoid Cystic Carcinoma' SubClassOf 'has_disease_location' some ('uterine cervix' or ('part_of' some 'uterine cervix')) 'Cervical Adenoid Cystic Carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016286 'Cervical Adenoid Cystic Carcinoma' SubClassOf 'adenoid cystic carcinoma' http://www.ebi.ac.uk/efo/EFO_1000162 Cervical Adenosquamous Carcinoma 'Cervical Adenosquamous Carcinoma' SubClassOf 'cervical carcinoma' 'Cervical Adenosquamous Carcinoma' SubClassOf 'has_disease_location' some ('uterine cervix' or ('part_of' some 'uterine cervix')) 'Cervical Adenosquamous Carcinoma' SubClassOf 'Adenosquamous Carcinoma' 'Cervical Adenosquamous Carcinoma' SubClassOf 'cervical squamous cell carcinoma' 'Cervical Adenosquamous Carcinoma' SubClassOf 'cervical carcinoma' 'Cervical Adenosquamous Carcinoma' SubClassOf 'cervical adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_1001491 abortion 'abortion' SubClassOf 'has_disease_location' some 'female reproductive system' http://www.ebi.ac.uk/efo/EFO_1000160 Cervical Adenoid Basal Carcinoma 'Cervical Adenoid Basal Carcinoma' SubClassOf 'cervical carcinoma' 'Cervical Adenoid Basal Carcinoma' SubClassOf 'has_disease_location' some ('uterine cervix' or ('part_of' some 'uterine cervix')) 'Cervical Adenoid Basal Carcinoma' SubClassOf 'cervical carcinoma' http://www.ebi.ac.uk/efo/EFO_1001490 late-onset myasthenia gravis 'late-onset myasthenia gravis' SubClassOf 'Myasthenia gravis' 'late-onset myasthenia gravis' SubClassOf 'Myasthenia gravis' http://www.ebi.ac.uk/efo/EFO_1000169 Cervical Mucinous Adenocarcinoma, Minimal Deviation Variant 'Cervical Mucinous Adenocarcinoma, Minimal Deviation Variant' SubClassOf 'cervical adenocarcinoma' 'Cervical Mucinous Adenocarcinoma, Minimal Deviation Variant' SubClassOf 'has_disease_location' some ('uterine cervix' or ('part_of' some 'uterine cervix')) 'Cervical Mucinous Adenocarcinoma, Minimal Deviation Variant' SubClassOf 'cervical adenocarcinoma' 'Cervical Mucinous Adenocarcinoma, Minimal Deviation Variant' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002742 http://www.ebi.ac.uk/efo/EFO_1000167 Cervical Large Cell Neuroendocrine Carcinoma 'Cervical Large Cell Neuroendocrine Carcinoma' SubClassOf 'large cell neuroendocrine carcinoma' 'Cervical Large Cell Neuroendocrine Carcinoma' SubClassOf 'cervical carcinoma' 'Cervical Large Cell Neuroendocrine Carcinoma' SubClassOf 'has_disease_location' some ('uterine cervix' or ('part_of' some 'uterine cervix')) 'Cervical Large Cell Neuroendocrine Carcinoma' SubClassOf 'large cell neuroendocrine carcinoma' 'Cervical Large Cell Neuroendocrine Carcinoma' SubClassOf 'cervical carcinoma' http://www.ebi.ac.uk/efo/EFO_1001499 histiocytic medullary reticulosis 'histiocytic medullary reticulosis' SubClassOf 'histiocytoma' 'histiocytic medullary reticulosis' SubClassOf 'histiocytoma' http://www.ebi.ac.uk/efo/EFO_1000168 Cervical Metaplasia 'Cervical Metaplasia' SubClassOf 'cervical adenocarcinoma' 'Cervical Metaplasia' SubClassOf 'cervical adenocarcinoma' 'Cervical Metaplasia' SubClassOf 'has_disease_location' some ('uterine cervix' or ('part_of' some 'uterine cervix')) http://www.ebi.ac.uk/efo/EFO_1001498 disseminated atypical mycobacterial infection 'disseminated atypical mycobacterial infection' SubClassOf 'bacterial disease' 'disseminated atypical mycobacterial infection' SubClassOf 'bacterial disease' http://www.orpha.net/ORDO/Orphanet_397606 Chronic diarrhea with hereditary sensory and autonomic neuropathy 'Chronic diarrhea with hereditary sensory and autonomic neuropathy' SubClassOf 'Autosomal dominant hereditary sensory and autonomic neuropathy' 'Chronic diarrhea with hereditary sensory and autonomic neuropathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017234 'Chronic diarrhea with hereditary sensory and autonomic neuropathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043424 'Chronic diarrhea with hereditary sensory and autonomic neuropathy' SubClassOf 'Autosomal dominant hereditary sensory and autonomic neuropathy' 'Chronic diarrhea with hereditary sensory and autonomic neuropathy' SubClassOf 'intestinal disease' http://www.ebi.ac.uk/efo/EFO_1000165 Cervical Glandular Intraepithelial Neoplasia 'Cervical Glandular Intraepithelial Neoplasia' SubClassOf 'uterine neoplasm' 'Cervical Glandular Intraepithelial Neoplasia' SubClassOf 'uterine neoplasm' 'Cervical Glandular Intraepithelial Neoplasia' SubClassOf 'has_disease_location' some ('uterine cervix' or ('part_of' some 'uterine cervix')) http://www.ebi.ac.uk/efo/EFO_1001497 cardiac conduction defect 'cardiac conduction defect' SubClassOf 'cardiac arrhythmia' 'cardiac conduction defect' SubClassOf 'cardiac arrhythmia' http://www.ebi.ac.uk/efo/EFO_0000510 genetic modification 'genetic modification' SubClassOf 'has_output' some 'material entity' http://www.ebi.ac.uk/efo/EFO_1000166 Cervical Intraepithelial Neoplasia Grade 2/3 'Cervical Intraepithelial Neoplasia Grade 2/3' SubClassOf 'cervical adenocarcinoma' 'Cervical Intraepithelial Neoplasia Grade 2/3' SubClassOf 'cervical adenocarcinoma' 'Cervical Intraepithelial Neoplasia Grade 2/3' SubClassOf 'has_disease_location' some ('uterine cervix' or ('part_of' some 'uterine cervix')) http://www.ebi.ac.uk/efo/EFO_1001496 Autosomal dominant polycystic kidney disease 'Autosomal dominant polycystic kidney disease' SubClassOf 'Familial cystic renal disease' 'Autosomal dominant polycystic kidney disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020642 'Autosomal dominant polycystic kidney disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018396 'Autosomal dominant polycystic kidney disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 'Autosomal dominant polycystic kidney disease' SubClassOf 'Rare genetic disorder with obstructive azoospermia' 'Autosomal dominant polycystic kidney disease' SubClassOf 'Familial cystic renal disease' http://www.ebi.ac.uk/efo/EFO_1000163 Cervical Clear Cell Adenocarcinoma 'Cervical Clear Cell Adenocarcinoma' SubClassOf 'cervical adenocarcinoma' 'Cervical Clear Cell Adenocarcinoma' SubClassOf 'clear cell adenocarcinoma' 'Cervical Clear Cell Adenocarcinoma' SubClassOf 'cervical adenocarcinoma' 'Cervical Clear Cell Adenocarcinoma' SubClassOf 'clear cell adenocarcinoma' 'Cervical Clear Cell Adenocarcinoma' SubClassOf 'has_disease_location' some ('uterine cervix' or ('part_of' some 'uterine cervix')) http://www.ebi.ac.uk/efo/EFO_0000512 reproductive system disease 'reproductive system disease' SubClassOf 'disease' 'reproductive system disease' SubClassOf 'disease of genitourinary system' 'reproductive system disease' DisjointWith 'uninfected' 'reproductive system disease' EquivalentTo 'has_disease_location' some ('reproductive system' or ('part_of' some 'reproductive system')) http://www.ebi.ac.uk/efo/EFO_1000164 Cervical Endometrioid Adenocarcinoma 'Cervical Endometrioid Adenocarcinoma' SubClassOf 'endometrium adenocarcinoma' 'Cervical Endometrioid Adenocarcinoma' SubClassOf 'endometrium adenocarcinoma' 'Cervical Endometrioid Adenocarcinoma' SubClassOf 'has_disease_location' some ('uterine cervix' or ('part_of' some 'uterine cervix')) 'Cervical Endometrioid Adenocarcinoma' SubClassOf 'endometrioid carcinoma' 'Cervical Endometrioid Adenocarcinoma' SubClassOf 'cervical adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0000513 genotype 'genotype' SubClassOf 'is_about' some 'genome' http://purl.obolibrary.org/obo/GO_0033273 response to vitamin 'response to vitamin' SubClassOf 'is_about' some 'vitamin' http://www.ebi.ac.uk/efo/EFO_0000514 germ cell tumor 'germ cell tumor' SubClassOf 'neoplasm' 'germ cell tumor' SubClassOf 'neoplasm' http://www.ebi.ac.uk/efo/EFO_0000515 obsolete_brain tumor glioblastoma 'obsolete_brain tumor glioblastoma' SubClassOf 'obsolete class' 'obsolete_brain tumor glioblastoma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000516 glaucoma 'glaucoma' SubClassOf 'eye disease' 'glaucoma' SubClassOf 'sensory system disease' 'glaucoma' SubClassOf 'eye disease' 'glaucoma' SubClassOf 'has_disease_location' some 'eye' http://www.orpha.net/ORDO/Orphanet_397612 Macrocephaly-developmental delay syndrome 'Macrocephaly-developmental delay syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Macrocephaly-developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Macrocephaly-developmental delay syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Macrocephaly-developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 http://www.ebi.ac.uk/efo/EFO_0000518 obsolete_glial cell (sensu Vertebrata) 'obsolete_glial cell (sensu Vertebrata)' SubClassOf 'obsolete class' 'obsolete_glial cell (sensu Vertebrata)' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000519 glioblastoma multiforme 'glioblastoma multiforme' SubClassOf 'astrocytoma' 'glioblastoma multiforme' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0024494 'glioblastoma multiforme' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016680 http://www.orpha.net/ORDO/Orphanet_371024 Qualitative or quantitative defects of alpha-dystroglycan 'Qualitative or quantitative defects of alpha-dystroglycan' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' 'Qualitative or quantitative defects of alpha-dystroglycan' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' http://www.ebi.ac.uk/efo/EFO_1000172 cervical squamous cell carcinoma 'cervical squamous cell carcinoma' SubClassOf 'squamous cell carcinoma' 'cervical squamous cell carcinoma' SubClassOf 'cervical carcinoma' 'cervical squamous cell carcinoma' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'cervical squamous cell carcinoma' SubClassOf 'has_disease_location' some ('uterine cervix' or ('part_of' some 'uterine cervix')) 'cervical squamous cell carcinoma' SubClassOf 'squamous cell carcinoma' 'cervical squamous cell carcinoma' SubClassOf 'cervical carcinoma' http://www.ebi.ac.uk/efo/EFO_1000173 Cervical Wilms Tumor 'Cervical Wilms Tumor' SubClassOf 'Nephroblastoma' 'Cervical Wilms Tumor' SubClassOf 'uterine neoplasm' 'Cervical Wilms Tumor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003321 'Cervical Wilms Tumor' SubClassOf 'Nephroblastoma' 'Cervical Wilms Tumor' SubClassOf 'Genetic gynecological tumor' 'Cervical Wilms Tumor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002974 'Cervical Wilms Tumor' SubClassOf 'has_disease_location' some ('uterine cervix' or ('part_of' some 'uterine cervix')) 'Cervical Wilms Tumor' SubClassOf 'uterine neoplasm' 'Cervical Wilms Tumor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0006058 http://www.ebi.ac.uk/efo/EFO_1000170 Cervical Mucinous Adenocarcinoma, Villoglandular Variant 'Cervical Mucinous Adenocarcinoma, Villoglandular Variant' SubClassOf 'cervical adenocarcinoma' 'Cervical Mucinous Adenocarcinoma, Villoglandular Variant' SubClassOf 'has_disease_location' some ('uterine cervix' or ('part_of' some 'uterine cervix')) 'Cervical Mucinous Adenocarcinoma, Villoglandular Variant' SubClassOf 'cervical adenocarcinoma' 'Cervical Mucinous Adenocarcinoma, Villoglandular Variant' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002742 'Cervical Mucinous Adenocarcinoma, Villoglandular Variant' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003204 http://www.ebi.ac.uk/efo/EFO_1000171 Cervical Small Cell Carcinoma 'Cervical Small Cell Carcinoma' SubClassOf 'cervical carcinoma' 'Cervical Small Cell Carcinoma' SubClassOf 'small cell carcinoma' 'Cervical Small Cell Carcinoma' SubClassOf 'has_disease_location' some ('uterine cervix' or ('part_of' some 'uterine cervix')) 'Cervical Small Cell Carcinoma' SubClassOf 'cervical carcinoma' http://www.orpha.net/ORDO/Orphanet_309001 Disorder of carbohydrate absorption and transport 'Disorder of carbohydrate absorption and transport' SubClassOf 'Disorder of carbohydrate metabolism' 'Disorder of carbohydrate absorption and transport' SubClassOf 'Disorder of carbohydrate metabolism' http://www.orpha.net/ORDO/Orphanet_397615 Obesity due to CEP19 deficiency 'Obesity due to CEP19 deficiency' SubClassOf 'Genetic non-syndromic obesity' 'Obesity due to CEP19 deficiency' SubClassOf 'Genetic non-syndromic obesity' http://www.ebi.ac.uk/efo/EFO_1000178 Chronic Eosinophilic Leukemia, Not Otherwise Specified 'Chronic Eosinophilic Leukemia, Not Otherwise Specified' SubClassOf 'leukemia' 'Chronic Eosinophilic Leukemia, Not Otherwise Specified' SubClassOf 'myeloid neoplasm' 'Chronic Eosinophilic Leukemia, Not Otherwise Specified' SubClassOf 'has modifier' some 'chronic' 'Chronic Eosinophilic Leukemia, Not Otherwise Specified' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001014 'Chronic Eosinophilic Leukemia, Not Otherwise Specified' SubClassOf 'chronic myeloproliferative disorder' 'Chronic Eosinophilic Leukemia, Not Otherwise Specified' SubClassOf 'leukemia' 'Chronic Eosinophilic Leukemia, Not Otherwise Specified' SubClassOf 'myeloid neoplasm' http://www.orpha.net/ORDO/Orphanet_397618 Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome 'Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome' SubClassOf 'Genetic vitreous-retinal disease' 'Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome' SubClassOf 'Optic neuropathy' 'Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome' SubClassOf 'Genetic vitreous-retinal disease' 'Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044203 'Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome' SubClassOf 'Optic neuropathy' http://www.ebi.ac.uk/efo/EFO_1000179 Chronic Neutrophilic Leukemia 'Chronic Neutrophilic Leukemia' SubClassOf 'leukemia' 'Chronic Neutrophilic Leukemia' SubClassOf 'myeloid neoplasm' 'Chronic Neutrophilic Leukemia' SubClassOf 'leukemia' 'Chronic Neutrophilic Leukemia' SubClassOf 'chronic myeloproliferative disorder' 'Chronic Neutrophilic Leukemia' SubClassOf 'myeloid neoplasm' 'Chronic Neutrophilic Leukemia' SubClassOf 'has modifier' some 'chronic' 'Chronic Neutrophilic Leukemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001014 http://www.orpha.net/ORDO/Orphanet_371007 Congenital muscular dystrophy with hyperlaxity 'Congenital muscular dystrophy with hyperlaxity' SubClassOf 'Congenital muscular dystrophy' 'Congenital muscular dystrophy with hyperlaxity' SubClassOf 'Congenital muscular dystrophy' http://www.ebi.ac.uk/efo/EFO_1000176 Chordoid Meningioma 'Chordoid Meningioma' SubClassOf 'Meningioma' 'Chordoid Meningioma' SubClassOf 'has_disease_location' some ('meninx' or ('part_of' some 'meninx')) 'Chordoid Meningioma' SubClassOf 'Meningioma' http://www.ebi.ac.uk/efo/EFO_1000177 Choroid Plexus Papilloma 'Choroid Plexus Papilloma' SubClassOf 'brain neoplasm' 'Choroid Plexus Papilloma' SubClassOf 'has_disease_location' some ('brain' or ('part_of' some 'brain')) 'Choroid Plexus Papilloma' SubClassOf 'brain neoplasm' http://www.ebi.ac.uk/efo/EFO_0000500 ganglioneuroma 'ganglioneuroma' SubClassOf 'autonomic nervous system disease' 'ganglioneuroma' SubClassOf 'neoplasm' 'ganglioneuroma' SubClassOf 'Neuroblastic Tumor' 'ganglioneuroma' SubClassOf 'has_disease_location' some 'sympathetic nervous system' 'ganglioneuroma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002366 'ganglioneuroma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016729 'ganglioneuroma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044993 http://www.ebi.ac.uk/efo/EFO_1000174 Chondroid Chordoma 'Chondroid Chordoma' SubClassOf 'bone neoplasm' 'Chondroid Chordoma' SubClassOf 'embryonal neoplasm' 'Chondroid Chordoma' SubClassOf 'bone neoplasm' 'Chondroid Chordoma' SubClassOf 'has_disease_location' some ('spinal cord' or ('part_of' some 'spinal cord')) 'Chondroid Chordoma' SubClassOf 'Chordoma' 'Chondroid Chordoma' SubClassOf 'embryonal neoplasm' http://www.ebi.ac.uk/efo/EFO_0000501 follicular thyroid carcinoma 'follicular thyroid carcinoma' SubClassOf 'differentiated thyroid carcinoma' 'follicular thyroid carcinoma' SubClassOf 'thyroid carcinoma' 'follicular thyroid carcinoma' SubClassOf 'differentiated thyroid carcinoma' 'follicular thyroid carcinoma' SubClassOf 'has_disease_location' some 'thyroid gland' 'follicular thyroid carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024622 http://www.ebi.ac.uk/efo/EFO_1000175 Chondroid Hamartoma 'Chondroid Hamartoma' SubClassOf 'neoplasm' 'Chondroid Hamartoma' SubClassOf 'neoplasm' http://www.ebi.ac.uk/efo/EFO_0000502 ganglioneuroblastoma 'ganglioneuroblastoma' SubClassOf 'neoplasm' 'ganglioneuroblastoma' SubClassOf 'Neuroblastic Tumor' http://www.ebi.ac.uk/efo/EFO_0000503 gastric adenocarcinoma 'gastric adenocarcinoma' SubClassOf 'adenocarcinoma' 'gastric adenocarcinoma' SubClassOf 'stomach neoplasm' 'gastric adenocarcinoma' SubClassOf 'adenocarcinoma' 'gastric adenocarcinoma' SubClassOf 'gastric carcinoma' 'gastric adenocarcinoma' SubClassOf 'has_disease_location' some 'stomach' http://www.ebi.ac.uk/efo/EFO_0000504 gastric intestinal type adenocarcinoma 'gastric intestinal type adenocarcinoma' SubClassOf 'adenocarcinoma' 'gastric intestinal type adenocarcinoma' SubClassOf 'stomach neoplasm' 'gastric intestinal type adenocarcinoma' SubClassOf 'Intestinal Type Adenocarcinoma' 'gastric intestinal type adenocarcinoma' SubClassOf 'has_disease_location' some 'intestine' 'gastric intestinal type adenocarcinoma' SubClassOf 'intestinal cancer' 'gastric intestinal type adenocarcinoma' SubClassOf 'gastric adenocarcinoma' 'gastric intestinal type adenocarcinoma' SubClassOf 'has_disease_location' some 'stomach' http://www.ebi.ac.uk/efo/EFO_0000505 obsolete_gastrointestinal stromal tumor 'obsolete_gastrointestinal stromal tumor' SubClassOf 'obsolete class' 'obsolete_gastrointestinal stromal tumor' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_397623 Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome 'Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome' SubClassOf 'Mesomelic and rhizo-mesomelic dysplasia' 'Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome' SubClassOf 'Genetic malformation syndrome with short stature' 'Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome' SubClassOf 'Mesomelic and rhizo-mesomelic dysplasia' 'Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome' SubClassOf 'Syndromic genetic deafness' 'Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 'Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015502 'Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.ebi.ac.uk/efo/EFO_0000508 genetic disorder 'genetic disorder' DisjointWith 'uninfected' http://www.ebi.ac.uk/efo/EFO_0000509 obsolete_genetic factor 'obsolete_genetic factor' SubClassOf 'obsolete class' 'obsolete_genetic factor' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_309005 Disorder of lipid metabolism 'Disorder of lipid metabolism' SubClassOf 'Inborn errors of metabolism' 'Disorder of lipid metabolism' SubClassOf 'Inborn errors of metabolism' http://www.ebi.ac.uk/efo/EFO_0000530 obsolete_hippocampus 'obsolete_hippocampus' SubClassOf 'obsolete class' 'obsolete_hippocampus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000533 obsolete_Huntington's disease 'obsolete_Huntington's disease' SubClassOf 'obsolete class' 'obsolete_Huntington's disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_251383 CK syndrome 'CK syndrome' SubClassOf 'Genetic syndrome with a central nervous system malformation as major feature' 'CK syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'CK syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017120 http://www.ebi.ac.uk/efo/EFO_0000535 obsolete_hyperglycemia 'obsolete_hyperglycemia' SubClassOf 'obsolete class' 'obsolete_hyperglycemia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000536 hyperplasia 'hyperplasia' SubClassOf 'disease' 'hyperplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0045024 'hyperplasia' DisjointWith 'uninfected' http://www.ebi.ac.uk/efo/EFO_0000537 hypertension 'hypertension' SubClassOf 'cardiovascular disease' 'hypertension' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000473 http://www.ebi.ac.uk/efo/EFO_0000538 hypertrophic cardiomyopathy 'hypertrophic cardiomyopathy' SubClassOf 'cardiomyopathy' 'hypertrophic cardiomyopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000591 http://www.orpha.net/ORDO/Orphanet_262047 Partial deletion of the long arm of chromosome 6 'Partial deletion of the long arm of chromosome 6' SubClassOf 'Partial deletion of chromosome 6' 'Partial deletion of the long arm of chromosome 6' SubClassOf 'Partial deletion of chromosome 6' http://www.orpha.net/ORDO/Orphanet_262029 Partial deletion of the long arm of chromosome 4 'Partial deletion of the long arm of chromosome 4' SubClassOf 'Partial deletion of chromosome 4' 'Partial deletion of the long arm of chromosome 4' SubClassOf 'Partial deletion of chromosome 4' http://www.ebi.ac.uk/efo/EFO_0000520 obsolete_glioma 'obsolete_glioma' SubClassOf 'obsolete class' 'obsolete_glioma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_251393 Localized junctional epidermolysis bullosa, non-Herlitz type 'Localized junctional epidermolysis bullosa, non-Herlitz type' SubClassOf 'Junctional epidermolysis bullosa, non-Herlitz type' 'Localized junctional epidermolysis bullosa, non-Herlitz type' SubClassOf 'Junctional epidermolysis bullosa, non-Herlitz type' http://www.ebi.ac.uk/efo/EFO_0000524 head and neck disorder 'head and neck disorder' SubClassOf 'disease' 'head and neck disorder' EquivalentTo 'has_disease_location' some 'head' 'head and neck disorder' EquivalentTo 'has_disease_location' some 'neck' 'head and neck disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024505 'head and neck disorder' DisjointWith 'uninfected' http://www.ebi.ac.uk/efo/EFO_0000525 obsolete_hematological neoplasm 'obsolete_hematological neoplasm' SubClassOf 'obsolete class' 'obsolete_hematological neoplasm' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000526 obsolete_hemopoietic progenitor cell 'obsolete_hemopoietic progenitor cell' SubClassOf 'obsolete class' 'obsolete_hemopoietic progenitor cell' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000529 obsolete_hereditary spastic paraplegia 'obsolete_hereditary spastic paraplegia' SubClassOf 'obsolete class' 'obsolete_hereditary spastic paraplegia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_262038 Partial deletion of the long arm of chromosome 5 'Partial deletion of the long arm of chromosome 5' SubClassOf 'Partial deletion of chromosome 5' 'Partial deletion of the long arm of chromosome 5' SubClassOf 'Partial deletion of chromosome 5' http://purl.obolibrary.org/obo/UBERON_0002165 endocardium 'endocardium' SubClassOf 'part_of' some 'heart' 'endocardium' SubClassOf 'part_of' some 'blood vessel' http://www.orpha.net/ORDO/Orphanet_251365 Sickle cell - hemoglobin C disease 'Sickle cell - hemoglobin C disease' SubClassOf 'Sickle cell disease associated with an other hemoglobin anomaly' 'Sickle cell - hemoglobin C disease' SubClassOf 'Sickle cell disease associated with an other hemoglobin anomaly' http://www.orpha.net/ORDO/Orphanet_262019 Partial deletion of the long arm of chromosome 3 'Partial deletion of the long arm of chromosome 3' SubClassOf 'Partial deletion of chromosome 3' 'Partial deletion of the long arm of chromosome 3' SubClassOf 'Partial deletion of chromosome 3' http://www.ebi.ac.uk/efo/EFO_0000551 intracranial hemorrhage 'intracranial hemorrhage' SubClassOf 'cerebrovascular disorder' 'intracranial hemorrhage' SubClassOf 'has_disease_location' some 'brain blood vessel' 'intracranial hemorrhage' SubClassOf 'cerebrovascular disorder' http://www.ebi.ac.uk/efo/EFO_0000552 invasive ductal and lobular carcinoma 'invasive ductal and lobular carcinoma' SubClassOf 'invasive ductal carcinoma' 'invasive ductal and lobular carcinoma' SubClassOf 'Mixed Lobular and Ductal Breast Carcinoma' 'invasive ductal and lobular carcinoma' SubClassOf 'invasive ductal carcinoma' http://www.ebi.ac.uk/efo/EFO_0000553 invasive lobular carcinoma 'invasive lobular carcinoma' SubClassOf 'breast carcinoma' 'invasive lobular carcinoma' SubClassOf 'Invasive Breast Carcinoma' 'invasive lobular carcinoma' SubClassOf 'lobular breast carcinoma' http://www.ebi.ac.uk/efo/EFO_0000555 irritable bowel syndrome 'irritable bowel syndrome' SubClassOf 'digestive system disease' 'irritable bowel syndrome' SubClassOf 'intestinal disease' 'irritable bowel syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 http://www.ebi.ac.uk/efo/EFO_0000557 juvenile dermatomyositis 'juvenile dermatomyositis' SubClassOf 'dermatomyositis' 'juvenile dermatomyositis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017021 'juvenile dermatomyositis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018010 'juvenile dermatomyositis' SubClassOf 'dermatomyositis' http://www.ebi.ac.uk/efo/EFO_0000558 Kaposi's sarcoma 'Kaposi's sarcoma' SubClassOf 'sarcoma' 'Kaposi's sarcoma' SubClassOf 'has_disease_location' some 'zone of skin' 'Kaposi's sarcoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015157 'Kaposi's sarcoma' SubClassOf 'angiosarcoma' http://www.ebi.ac.uk/efo/EFO_0000559 keratinizing squamous cell carcinoma 'keratinizing squamous cell carcinoma' SubClassOf 'squamous cell carcinoma' 'keratinizing squamous cell carcinoma' SubClassOf 'squamous cell carcinoma' http://www.orpha.net/ORDO/Orphanet_263355 ATR-X-related syndrome 'ATR-X-related syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'ATR-X-related syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'ATR-X-related syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'ATR-X-related syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'ATR-X-related syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_251359 Sickle cell - beta-thalassemia disease 'Sickle cell - beta-thalassemia disease' SubClassOf 'Sickle cell disease associated with an other hemoglobin anomaly' 'Sickle cell - beta-thalassemia disease' SubClassOf 'Sickle cell disease associated with an other hemoglobin anomaly' http://purl.obolibrary.org/obo/EO_0007196 light regimen 'light regimen' SubClassOf 'radiation quality treatment' 'light regimen' SubClassOf 'radiation quality treatment' http://www.orpha.net/ORDO/Orphanet_251375 Sickle cell - hemoglobin E disease 'Sickle cell - hemoglobin E disease' SubClassOf 'Sickle cell disease associated with an other hemoglobin anomaly' 'Sickle cell - hemoglobin E disease' SubClassOf 'Sickle cell disease associated with an other hemoglobin anomaly' http://www.ebi.ac.uk/efo/EFO_0000540 immune system disease 'immune system disease' SubClassOf 'disease' 'immune system disease' DisjointWith 'uninfected' 'immune system disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021199 'immune system disease' EquivalentTo 'has_disease_location' some 'immune system' http://www.orpha.net/ORDO/Orphanet_251370 Sickle cell - hemoglobin D disease 'Sickle cell - hemoglobin D disease' SubClassOf 'Sickle cell disease associated with an other hemoglobin anomaly' 'Sickle cell - hemoglobin D disease' SubClassOf 'Sickle cell disease associated with an other hemoglobin anomaly' http://www.ebi.ac.uk/efo/EFO_0000543 obsolete_individual genetic characteristic 'obsolete_individual genetic characteristic' SubClassOf 'obsolete class' 'obsolete_individual genetic characteristic' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000545 infertility 'infertility' SubClassOf 'reproductive system disease' 'infertility' SubClassOf 'reproductive system disease' http://www.ebi.ac.uk/efo/EFO_0000546 injury 'injury' SubClassOf 'disposition' 'injury' SubClassOf 'disease' http://www.orpha.net/ORDO/Orphanet_262010 Partial deletion of the long arm of chromosome 2 'Partial deletion of the long arm of chromosome 2' SubClassOf 'Partial deletion of chromosome 2' 'Partial deletion of the long arm of chromosome 2' SubClassOf 'Partial deletion of chromosome 2' http://www.ebi.ac.uk/efo/EFO_0000547 obsolete_inner cell mass 'obsolete_inner cell mass' SubClassOf 'obsolete class' 'obsolete_inner cell mass' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_264675 Congenital pulmonary alveolar proteinosis 'Congenital pulmonary alveolar proteinosis' SubClassOf 'Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies' 'Congenital pulmonary alveolar proteinosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003847 'Congenital pulmonary alveolar proteinosis' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0001437 and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) 'Congenital pulmonary alveolar proteinosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001437 'Congenital pulmonary alveolar proteinosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015133 'Congenital pulmonary alveolar proteinosis' SubClassOf 'Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies' http://purl.obolibrary.org/obo/UBERON_0002185 bronchus 'bronchus' SubClassOf 'part_of' some 'respiratory system' 'bronchus' SubClassOf 'develops_from' some 'primordium' 'bronchus' SubClassOf 'develops_from' some 'digestive system' 'bronchus' SubClassOf 'develops_from' some 'endoderm' http://www.ebi.ac.uk/efo/EFO_0000549 insulinoma 'insulinoma' SubClassOf 'pancreatic neoplasm' 'insulinoma' SubClassOf 'has_disease_location' some 'beta cell' 'insulinoma' SubClassOf 'pancreatic neuroendocrine tumor' http://purl.obolibrary.org/obo/HP_0004552 Scarring alopecia of scalp 'Scarring alopecia of scalp' SubClassOf 'Alopecia' 'Scarring alopecia of scalp' SubClassOf 'Alopecia' 'Scarring alopecia of scalp' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021034 http://www.orpha.net/ORDO/Orphanet_263347 MRCS syndrome 'MRCS syndrome' SubClassOf 'Syndromic cataract' 'MRCS syndrome' SubClassOf 'Retinal dystrophy' 'MRCS syndrome' SubClassOf 'Syndromic cataract' 'MRCS syndrome' SubClassOf 'Retinal dystrophy' http://purl.obolibrary.org/obo/EO_0007189 chemical treatment 'chemical treatment' SubClassOf 'abiotic plant treatment' 'chemical treatment' SubClassOf 'abiotic plant treatment' http://purl.obolibrary.org/obo/UBERON_0002186 bronchiole 'bronchiole' SubClassOf 'part_of' some 'lung' http://purl.obolibrary.org/obo/EO_0007185 salt treatment 'salt treatment' SubClassOf 'chemical treatment' 'salt treatment' SubClassOf 'chemical treatment' http://www.ebi.ac.uk/efo/EFO_0000570 obsolete_lobular breast carcinoma 'obsolete_lobular breast carcinoma' SubClassOf 'obsolete class' 'obsolete_lobular breast carcinoma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000571 lung adenocarcinoma 'lung adenocarcinoma' SubClassOf 'lung carcinoma' 'lung adenocarcinoma' SubClassOf 'non-small cell lung carcinoma' 'lung adenocarcinoma' SubClassOf 'adenocarcinoma' 'lung adenocarcinoma' SubClassOf 'has_disease_location' some 'lung' http://www.ebi.ac.uk/efo/EFO_0000572 lymphoblast 'lymphoblast' SubClassOf 'located_in' some 'hematopoietic system' http://www.ebi.ac.uk/efo/EFO_0000574 lymphoma 'lymphoma' SubClassOf 'lymphoid neoplasm' 'lymphoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015757 'lymphoma' SubClassOf 'lymphoid neoplasm' http://purl.obolibrary.org/obo/PATO_0001377 polyploid 'polyploid' SubClassOf 'euploid' 'polyploid' SubClassOf 'euploid' http://www.ebi.ac.uk/efo/EFO_0000577 obsolete_material type 'obsolete_material type' SubClassOf 'obsolete class' 'obsolete_material type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/PATO_0001384 hexaploid 'hexaploid' SubClassOf 'polyploid' 'hexaploid' SubClassOf 'polyploid' http://purl.obolibrary.org/obo/PATO_0001381 triploid 'triploid' SubClassOf 'polyploid' 'triploid' SubClassOf 'polyploid' http://purl.obolibrary.org/obo/UBERON_0002113 kidney 'kidney' SubClassOf 'develops_from' some 'embryo' 'kidney' SubClassOf 'part_of' some 'abdomen' 'kidney' SubClassOf 'part_of' some 'genitourinary system' http://purl.obolibrary.org/obo/UBERON_0002114 duodenum 'duodenum' SubClassOf 'part_of' some 'small intestine' http://purl.obolibrary.org/obo/UBERON_0002115 jejunum 'jejunum' SubClassOf 'develops_from' some 'midgut' 'jejunum' SubClassOf 'part_of' some 'small intestine' http://purl.obolibrary.org/obo/UBERON_0002116 ileum 'ileum' SubClassOf 'part_of' some 'small intestine' http://www.orpha.net/ORDO/Orphanet_262083 Partial monosomy of the long arm of chromosome 10 'Partial monosomy of the long arm of chromosome 10' SubClassOf 'Partial deletion of chromosome 10' 'Partial monosomy of the long arm of chromosome 10' SubClassOf 'Partial deletion of chromosome 10' http://purl.obolibrary.org/obo/UBERON_0002110 gallbladder 'gallbladder' SubClassOf 'develops_from' some 'trunk mesenchyme' 'gallbladder' SubClassOf 'develops_from' some 'primordium' 'gallbladder' SubClassOf 'part_of' some 'hepatobiliary system' 'gallbladder' SubClassOf 'part_of' some 'abdomen' 'gallbladder' SubClassOf 'develops_from' some 'endoderm' 'gallbladder' SubClassOf 'develops_from' some 'hepatobiliary system' http://purl.obolibrary.org/obo/UBERON_0002112 smooth muscle of esophagus 'smooth muscle of esophagus' SubClassOf 'smooth muscle' 'smooth muscle of esophagus' SubClassOf 'part_of' some 'esophagus' 'smooth muscle of esophagus' SubClassOf 'smooth muscle tissue' http://purl.obolibrary.org/obo/UBERON_0015423 hilar portion of hepatic duct 'hilar portion of hepatic duct' SubClassOf 'bile duct' 'hilar portion of hepatic duct' SubClassOf 'located_in' some 'liver' 'hilar portion of hepatic duct' SubClassOf http://purl.obolibrary.org/obo/UBERON_0005171 http://www.ebi.ac.uk/efo/EFO_1001402 postencephalitic Parkinson disease 'postencephalitic Parkinson disease' SubClassOf 'Parkinson's disease' 'postencephalitic Parkinson disease' SubClassOf 'central nervous system infection' 'postencephalitic Parkinson disease' SubClassOf 'Parkinson's disease' 'postencephalitic Parkinson disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020141 'postencephalitic Parkinson disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017635 'postencephalitic Parkinson disease' SubClassOf 'secondary Parkinson disease' http://www.ebi.ac.uk/efo/EFO_1001401 Pneumovirus Infections 'Pneumovirus Infections' SubClassOf 'viral disease' 'Pneumovirus Infections' SubClassOf 'viral disease' http://www.ebi.ac.uk/efo/EFO_1001400 Pneumopericardium 'Pneumopericardium' SubClassOf 'pericarditis' 'Pneumopericardium' SubClassOf 'pericarditis' http://www.ebi.ac.uk/efo/EFO_0000563 large cell neuroendocrine carcinoma 'large cell neuroendocrine carcinoma' SubClassOf 'endocrine neoplasm' 'large cell neuroendocrine carcinoma' SubClassOf 'carcinoma' 'large cell neuroendocrine carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002120 'large cell neuroendocrine carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0005232 'large cell neuroendocrine carcinoma' SubClassOf 'has_disease_location' some 'endocrine system' 'large cell neuroendocrine carcinoma' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0002120 and http://purl.obolibrary.org/obo/MONDO_0005232 http://www.ebi.ac.uk/efo/EFO_0000564 leiomyosarcoma 'leiomyosarcoma' SubClassOf 'sarcoma' 'leiomyosarcoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017345 'leiomyosarcoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002924 'leiomyosarcoma' SubClassOf 'soft tissue sarcoma' http://www.ebi.ac.uk/efo/EFO_0000565 leukemia 'leukemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044881 'leukemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0005374 http://www.ebi.ac.uk/efo/EFO_0001899 drug role 'drug role' SubClassOf 'inheres_in' some 'chemical entity' http://www.ebi.ac.uk/efo/EFO_0000569 liposarcoma 'liposarcoma' SubClassOf 'sarcoma' 'liposarcoma' SubClassOf 'soft tissue sarcoma' 'liposarcoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002813 'liposarcoma' SubClassOf 'has_disease_location' some 'adipose tissue' http://www.ebi.ac.uk/efo/EFO_1001409 Pyomyositis 'Pyomyositis' SubClassOf 'muscular disease' 'Pyomyositis' SubClassOf 'muscular disease' 'Pyomyositis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016127 http://www.ebi.ac.uk/efo/EFO_1001408 Pulmonary Infarction 'Pulmonary Infarction' SubClassOf 'pulmonary embolism' 'Pulmonary Infarction' SubClassOf 'pulmonary embolism' http://www.ebi.ac.uk/efo/EFO_1001407 Puerperal Infection 'Puerperal Infection' SubClassOf 'infectious disease' 'Puerperal Infection' EquivalentTo 'infectious disease' and 'puerperal disorder' 'Puerperal Infection' SubClassOf 'puerperal disorder' 'Puerperal Infection' SubClassOf 'infectious disease' http://purl.obolibrary.org/obo/PATO_0001393 euploid 'euploid' SubClassOf 'ploidy' 'euploid' SubClassOf 'ploidy' http://www.ebi.ac.uk/efo/EFO_1001406 Prosthesis-Related Infections 'Prosthesis-Related Infections' SubClassOf 'infectious disease' 'Prosthesis-Related Infections' SubClassOf 'infectious disease' 'Prosthesis-Related Infections' SubClassOf 'participates_in' some 'infection' http://www.ebi.ac.uk/efo/EFO_1001405 Postthrombotic Syndrome 'Postthrombotic Syndrome' SubClassOf 'cardiovascular disease' 'Postthrombotic Syndrome' SubClassOf 'cardiovascular disease' http://www.ebi.ac.uk/efo/EFO_1001404 Postpericardiotomy Syndrome 'Postpericardiotomy Syndrome' SubClassOf 'allergy' 'Postpericardiotomy Syndrome' SubClassOf 'allergy' http://www.ebi.ac.uk/efo/EFO_1001403 Postpartum Thyroiditis 'Postpartum Thyroiditis' SubClassOf 'thyroid disease' 'Postpartum Thyroiditis' SubClassOf 'thyroid disease' http://purl.obolibrary.org/obo/UBERON_0002124 medulla of thymus 'medulla of thymus' SubClassOf 'part_of' some 'thymus' http://purl.obolibrary.org/obo/UBERON_0002120 pronephros 'pronephros' SubClassOf 'kidney' 'pronephros' SubClassOf 'develops_from' some 'anal region' 'pronephros' SubClassOf 'develops_from' some 'reproductive system' 'pronephros' SubClassOf 'kidney' 'pronephros' SubClassOf 'develops_from' some 'pronephric mesoderm' http://purl.obolibrary.org/obo/CHEBI_3440 carvacrol 'carvacrol' SubClassOf 'has_role' some 'antimicrobial agent' http://www.orpha.net/ORDO/Orphanet_262074 Partial monosomy of the long arm of chromosome 9 'Partial monosomy of the long arm of chromosome 9' SubClassOf 'Partial deletion of chromosome 9' 'Partial monosomy of the long arm of chromosome 9' SubClassOf 'Partial deletion of chromosome 9' http://www.ebi.ac.uk/efo/EFO_0000591 obsolete_mitochondrial disorder 'obsolete_mitochondrial disorder' SubClassOf 'obsolete class' 'obsolete_mitochondrial disorder' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000592 obsolete_mixed lobular and ductal breast carcinoma 'obsolete_mixed lobular and ductal breast carcinoma' SubClassOf 'obsolete class' 'obsolete_mixed lobular and ductal breast carcinoma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001413 Respiratory Syncytial Virus Infection 'Respiratory Syncytial Virus Infection' SubClassOf 'viral disease' 'Respiratory Syncytial Virus Infection' SubClassOf 'viral disease' 'Respiratory Syncytial Virus Infection' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024352 'Respiratory Syncytial Virus Infection' SubClassOf 'Mononegavirales infectious disease' http://www.ebi.ac.uk/efo/EFO_1001412 Renal Colic 'Renal Colic' SubClassOf 'pain' 'Renal Colic' SubClassOf 'pain' http://purl.obolibrary.org/obo/CHEBI_44185 methotrexate 'methotrexate' SubClassOf ('has_role' some 'antineoplastic agent') or ('has_role' some 'antirheumatic drug') or ('has_role' some 'folic acid reductase inhibitor') http://www.ebi.ac.uk/efo/EFO_0000595 monophasic synovial sarcoma 'monophasic synovial sarcoma' SubClassOf 'synovial sarcoma' 'monophasic synovial sarcoma' SubClassOf 'synovial sarcoma' http://www.ebi.ac.uk/efo/EFO_1001411 Radiation Pneumonitis 'Radiation Pneumonitis' SubClassOf 'pneumonitis' 'Radiation Pneumonitis' SubClassOf 'pneumonitis' http://www.ebi.ac.uk/efo/EFO_0000596 obsolete_motoneuron 'obsolete_motoneuron' SubClassOf 'obsolete class' 'obsolete_motoneuron' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001410 Pythiosis 'Pythiosis' SubClassOf 'parasitic infection' 'Pythiosis' SubClassOf 'parasitic infection' http://www.orpha.net/ORDO/Orphanet_262065 Partial deletion of the long arm of chromosome 8 'Partial deletion of the long arm of chromosome 8' SubClassOf 'Partial deletion of chromosome 8' 'Partial deletion of the long arm of chromosome 8' SubClassOf 'Partial deletion of chromosome 8' http://www.ebi.ac.uk/efo/EFO_1001419 Schistosomiasis japonica 'Schistosomiasis japonica' SubClassOf 'parasitic infection' 'Schistosomiasis japonica' SubClassOf 'parasitic infection' http://www.ebi.ac.uk/efo/EFO_1001418 Salmonella Infections 'Salmonella Infections' SubClassOf 'bacterial disease' 'Salmonella Infections' SubClassOf 'bacterial disease' http://www.ebi.ac.uk/efo/EFO_1001417 Rhinitis, Allergic, Perennial 'Rhinitis, Allergic, Perennial' SubClassOf 'allergic rhinitis' 'Rhinitis, Allergic, Perennial' SubClassOf 'allergic rhinitis' http://www.ebi.ac.uk/efo/EFO_1001416 Rheumatic Nodule 'Rheumatic Nodule' SubClassOf 'has_disease_location' some ('heart' or ('part_of' some 'heart')) 'Rheumatic Nodule' SubClassOf 'cardiovascular disease' http://www.ebi.ac.uk/efo/EFO_1001415 Retropharyngeal Abscess 'Retropharyngeal Abscess' SubClassOf 'abscess' 'Retropharyngeal Abscess' SubClassOf 'abscess' http://www.ebi.ac.uk/efo/EFO_1001414 Retrobulbar Hemorrhage 'Retrobulbar Hemorrhage' SubClassOf 'eye disease' 'Retrobulbar Hemorrhage' SubClassOf 'eye disease' 'Retrobulbar Hemorrhage' SubClassOf 'has_disease_location' some ('eye' or ('part_of' some 'eye')) http://purl.obolibrary.org/obo/UBERON_0002135 mitral valve 'mitral valve' SubClassOf 'develops_from' some 'ectoderm' 'mitral valve' SubClassOf 'part_of' some 'cardiac atrium' 'mitral valve' SubClassOf 'develops_from' some 'endocardium' 'mitral valve' DisjointWith http://purl.obolibrary.org/obo/UBERON_0007120 'mitral valve' SubClassOf 'develops_from' some 'presumptive neural plate' http://purl.obolibrary.org/obo/UBERON_0002137 aortic valve 'aortic valve' SubClassOf 'develops_from' some 'endocardium' 'aortic valve' SubClassOf 'part_of' some 'cardiac ventricle' 'aortic valve' SubClassOf 'develops_from' some 'ectoderm' 'aortic valve' SubClassOf 'develops_from' some 'presumptive neural plate' http://purl.obolibrary.org/obo/UBERON_0003464 bone of lower extremity 'bone of lower extremity' SubClassOf http://purl.obolibrary.org/obo/UBERON_0010742 http://www.ebi.ac.uk/efo/EFO_0000580 medullary breast carcinoma 'medullary breast carcinoma' SubClassOf 'breast carcinoma' 'medullary breast carcinoma' SubClassOf 'invasive ductal carcinoma' http://www.ebi.ac.uk/efo/EFO_1001424 skin epithelioid hemangioma 'skin epithelioid hemangioma' SubClassOf 'hemangioma' 'skin epithelioid hemangioma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021169 'skin epithelioid hemangioma' SubClassOf 'hemangioma' 'skin epithelioid hemangioma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003110 'skin epithelioid hemangioma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003119 http://www.ebi.ac.uk/efo/EFO_1001423 Shaken Baby Syndrome 'Shaken Baby Syndrome' SubClassOf 'brain disease' 'Shaken Baby Syndrome' SubClassOf 'brain disease' http://www.ebi.ac.uk/efo/EFO_0000584 infectious meningitis 'infectious meningitis' SubClassOf 'infectious disease' 'infectious meningitis' SubClassOf 'central nervous system disease' 'infectious meningitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021108 'infectious meningitis' SubClassOf 'has_disease_location' some 'meninx' 'infectious meningitis' SubClassOf 'encephalomyelitis' 'infectious meningitis' SubClassOf 'has_disease_location' only 'meninx' http://www.ebi.ac.uk/efo/EFO_1001422 Sertoli Cell-Only Syndrome 'Sertoli Cell-Only Syndrome' SubClassOf 'male reproductive system disease' 'Sertoli Cell-Only Syndrome' SubClassOf 'Male infertility with azoospermia or oligozoospermia due to single gene mutation' 'Sertoli Cell-Only Syndrome' SubClassOf 'reproductive system disease' 'Sertoli Cell-Only Syndrome' SubClassOf 'has_disease_location' some ('male reproductive system' or ('part_of' some 'male reproductive system')) 'Sertoli Cell-Only Syndrome' SubClassOf 'azoospermia' http://www.ebi.ac.uk/efo/EFO_1001421 Serratia Infections 'Serratia Infections' SubClassOf 'bacterial disease' 'Serratia Infections' SubClassOf 'bacterial disease' http://www.ebi.ac.uk/efo/EFO_1001420 Schistosomiasis mansoni 'Schistosomiasis mansoni' SubClassOf 'parasitic infection' 'Schistosomiasis mansoni' SubClassOf 'parasitic infection' http://www.ebi.ac.uk/efo/EFO_0000588 mesothelioma 'mesothelioma' SubClassOf 'mesothelial neoplasm' 'mesothelioma' SubClassOf 'mesothelial neoplasm' http://www.ebi.ac.uk/efo/EFO_0000589 metabolic disease 'metabolic disease' SubClassOf 'disease' 'metabolic disease' EquivalentTo 'disease' and ('realized_in' some ('disease course' and ('has part' some 'metabolic process'))) 'metabolic disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024297 'metabolic disease' SubClassOf 'disease' and ('realized_in' some ('disease course' and ('has part' some 'metabolic process'))) 'metabolic disease' DisjointWith 'uninfected' 'metabolic disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021195 http://www.orpha.net/ORDO/Orphanet_262056 Partial deletion of the long arm of chromosome 7 'Partial deletion of the long arm of chromosome 7' SubClassOf 'Partial deletion of chromosome 7' 'Partial deletion of the long arm of chromosome 7' SubClassOf 'Partial deletion of chromosome 7' http://www.ebi.ac.uk/efo/EFO_1001429 Subdural Effusion 'Subdural Effusion' SubClassOf 'nervous system disease' 'Subdural Effusion' SubClassOf 'nervous system disease' http://www.ebi.ac.uk/efo/EFO_1001428 Subacute Combined Degeneration 'Subacute Combined Degeneration' SubClassOf 'neuropathy' 'Subacute Combined Degeneration' SubClassOf 'neuropathy' http://www.ebi.ac.uk/efo/EFO_1001426 Spinal Cord Ischemia 'Spinal Cord Ischemia' SubClassOf 'cardiovascular disease' 'Spinal Cord Ischemia' SubClassOf 'stroke' 'Spinal Cord Ischemia' SubClassOf 'cardiovascular disease' http://www.ebi.ac.uk/efo/EFO_1001425 Skull Fractures 'Skull Fractures' SubClassOf 'bone fracture' 'Skull Fractures' SubClassOf 'bone fracture' http://purl.obolibrary.org/obo/UBERON_0002148 locus ceruleus 'locus ceruleus' SubClassOf 'part_of' some 'hindbrain' 'locus ceruleus' SubClassOf 'part_of' some 'pons' http://www.ebi.ac.uk/efo/EFO_0000491 obsolete_facioscapulohumeral muscular dystrophy 'obsolete_facioscapulohumeral muscular dystrophy' SubClassOf 'obsolete class' 'obsolete_facioscapulohumeral muscular dystrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0 'Vitamin B12-unresponsive methylmalonic acidemia type mut0' SubClassOf http://purl.obolibrary.org/obo/MONDO_0009612 http://www.ebi.ac.uk/efo/EFO_0000492 obsolete_familial combined hyperlipidemia 'obsolete_familial combined hyperlipidemia' SubClassOf 'obsolete class' 'obsolete_familial combined hyperlipidemia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_276603 Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency 'Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency' SubClassOf 'Diazoxide-resistant focal hyperinsulinism' 'Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency' SubClassOf 'Diazoxide-resistant focal hyperinsulinism' 'Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0011153 http://www.ebi.ac.uk/efo/EFO_0000495 fetal growth restriction 'fetal growth restriction' SubClassOf 'placenta disease' 'fetal growth restriction' SubClassOf 'has_disease_location' some 'placenta' 'fetal growth restriction' SubClassOf 'placenta disease' http://purl.obolibrary.org/obo/CHEBI_114785 erlotinib 'erlotinib' SubClassOf ('has_role' some 'antineoplastic agent') or ('has_role' some 'protein kinase inhibitor') http://www.ebi.ac.uk/efo/EFO_0000497 fibromatosis 'fibromatosis' SubClassOf 'neoplasm' 'fibromatosis' SubClassOf 'Fibroblastic Neoplasm' http://www.ebi.ac.uk/efo/EFO_0000499 follicular thyroid adenoma 'follicular thyroid adenoma' SubClassOf 'thyroid neoplasm' 'follicular thyroid adenoma' SubClassOf 'adenoma' 'follicular thyroid adenoma' SubClassOf 'has_disease_location' some 'thyroid gland' 'follicular thyroid adenoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0036976 'follicular thyroid adenoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002454 'follicular thyroid adenoma' SubClassOf 'Benign Thyroid Gland Neoplasm' http://www.ebi.ac.uk/efo/EFO_0000481 obsolete_event distant metastases 'obsolete_event distant metastases' SubClassOf 'obsolete class' 'obsolete_event distant metastases' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000484 obsolete_experiment type 'obsolete_experiment type' SubClassOf 'obsolete class' 'obsolete_experiment type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000485 obsolete_experimental design 'obsolete_experimental design' SubClassOf 'obsolete class' 'obsolete_experimental design' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000489 extra-adrenal sympathetic paraganglioma 'extra-adrenal sympathetic paraganglioma' SubClassOf 'endocrine neoplasm' 'extra-adrenal sympathetic paraganglioma' SubClassOf 'peripheral nervous system disease' 'extra-adrenal sympathetic paraganglioma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021072 'extra-adrenal sympathetic paraganglioma' SubClassOf 'has_disease_location' some 'sympathetic nervous system' http://purl.obolibrary.org/obo/EO_0007241 plant nutrient treatment 'plant nutrient treatment' SubClassOf 'chemical treatment' 'plant nutrient treatment' SubClassOf 'chemical treatment' http://dbpedia.org/resource/China China 'China' SubClassOf 'country' 'China' SubClassOf 'country' http://purl.obolibrary.org/obo/PO_0005597 cambium 'cambium' SubClassOf 'portion of meristem tissue' 'cambium' SubClassOf 'portion of meristem tissue' http://purl.obolibrary.org/obo/EO_0007222 UV light regimen 'UV light regimen' SubClassOf 'light regimen' 'UV light regimen' SubClassOf 'light regimen' http://www.orpha.net/ORDO/Orphanet_238329 Severe X-linked mitochondrial encephalomyopathy 'Severe X-linked mitochondrial encephalomyopathy' SubClassOf 'Neurometabolic disease' 'Severe X-linked mitochondrial encephalomyopathy' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Severe X-linked mitochondrial encephalomyopathy' SubClassOf 'Neurometabolic disease' 'Severe X-linked mitochondrial encephalomyopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Severe X-linked mitochondrial encephalomyopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000732 'Severe X-linked mitochondrial encephalomyopathy' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' http://purl.obolibrary.org/obo/CHEBI_19289 N(2),N(2)-dimethylguanosine 'N(2),N(2)-dimethylguanosine' SubClassOf 'chemical entity' 'N(2),N(2)-dimethylguanosine' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_1460 Isolated CoQ-cytochrome C reductase deficiency 'Isolated CoQ-cytochrome C reductase deficiency' SubClassOf 'Isolated oxidative phosphorylation complex disorder' 'Isolated CoQ-cytochrome C reductase deficiency' SubClassOf 'Isolated oxidative phosphorylation complex disorder' 'Isolated CoQ-cytochrome C reductase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000066 'Isolated CoQ-cytochrome C reductase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044971 http://www.orpha.net/ORDO/Orphanet_2792 Otofaciocervical syndrome 'Otofaciocervical syndrome' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Otofaciocervical syndrome' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Otofaciocervical syndrome' SubClassOf 'Genetic branchial arch or oral-acral syndrome' http://www.orpha.net/ORDO/Orphanet_2791 Otodental syndrome 'Otodental syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 11' 'Otodental syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Otodental syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 11' 'Otodental syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' http://www.orpha.net/ORDO/Orphanet_2790 Autosomal dominant osteosclerosis, Worth type 'Autosomal dominant osteosclerosis, Worth type' SubClassOf 'Primary bone dysplasia with increased bone density' 'Autosomal dominant osteosclerosis, Worth type' SubClassOf 'Primary bone dysplasia with increased bone density' http://www.orpha.net/ORDO/Orphanet_166272 Goldblatt syndrome 'Goldblatt syndrome' SubClassOf 'Malformative syndrome with dentinogenesis imperfecta' 'Goldblatt syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Goldblatt syndrome' SubClassOf 'Spondylometaphyseal dysplasia' 'Goldblatt syndrome' SubClassOf 'Malformative syndrome with dentinogenesis imperfecta' 'Goldblatt syndrome' SubClassOf 'Spondylometaphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_251347 Ataxia-telangiectasia-like disorder 'Ataxia-telangiectasia-like disorder' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Ataxia-telangiectasia-like disorder' SubClassOf 'Autosomal recessive cerebellar ataxia due to a DNA repair defect' 'Ataxia-telangiectasia-like disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043218 'Ataxia-telangiectasia-like disorder' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Ataxia-telangiectasia-like disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 'Ataxia-telangiectasia-like disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019293 'Ataxia-telangiectasia-like disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016756 'Ataxia-telangiectasia-like disorder' SubClassOf 'Autosomal recessive cerebellar ataxia due to a DNA repair defect' http://www.orpha.net/ORDO/Orphanet_1466 COFS syndrome 'COFS syndrome' SubClassOf 'Cockayne syndrome' 'COFS syndrome' SubClassOf 'Syndromic microphthalmia' 'COFS syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0009022 'COFS syndrome' SubClassOf 'Syndromic cataract' 'COFS syndrome' SubClassOf 'Cockayne syndrome' 'COFS syndrome' SubClassOf 'Syndromic microphthalmia' 'COFS syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002562 http://www.orpha.net/ORDO/Orphanet_2798 Pachygyria - intellectual disability - epilepsy 'Pachygyria - intellectual disability - epilepsy' SubClassOf 'Cerebral malformation with epilepsy' 'Pachygyria - intellectual disability - epilepsy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Pachygyria - intellectual disability - epilepsy' SubClassOf 'Cerebral malformation with epilepsy' http://purl.obolibrary.org/obo/HP_0003108 Hyperglycinuria 'Hyperglycinuria' SubClassOf 'abnormality of metabolism/homeostasis' 'Hyperglycinuria' SubClassOf 'abnormality of metabolism/homeostasis' http://www.orpha.net/ORDO/Orphanet_166277 Suarez-Stickler syndrome 'Suarez-Stickler syndrome' SubClassOf 'Malformative syndrome with dentinogenesis imperfecta' 'Suarez-Stickler syndrome' SubClassOf 'Primary bone dysplasia with decreased bone density' 'Suarez-Stickler syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Suarez-Stickler syndrome' SubClassOf 'Malformative syndrome with dentinogenesis imperfecta' 'Suarez-Stickler syndrome' SubClassOf 'Primary bone dysplasia with decreased bone density' http://www.orpha.net/ORDO/Orphanet_2796 Pachydermoperiostosis 'Pachydermoperiostosis' SubClassOf 'Primary hypertrophic osteoarthropathy' 'Pachydermoperiostosis' SubClassOf 'Primary hypertrophic osteoarthropathy' 'Pachydermoperiostosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018798 'Pachydermoperiostosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021154 http://www.orpha.net/ORDO/Orphanet_1465 Coffin-Siris syndrome 'Coffin-Siris syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Coffin-Siris syndrome' SubClassOf 'Syndrome with brachydactyly' 'Coffin-Siris syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Coffin-Siris syndrome' SubClassOf 'Syndrome with brachydactyly' 'Coffin-Siris syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Coffin-Siris syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 http://www.orpha.net/ORDO/Orphanet_262001 Partial deletion of the long arm of chromosome 1 'Partial deletion of the long arm of chromosome 1' SubClassOf 'Partial deletion of chromosome 1' 'Partial deletion of the long arm of chromosome 1' SubClassOf 'Partial deletion of chromosome 1' http://purl.obolibrary.org/obo/UBERON_0002196 adenohypophysis 'adenohypophysis' SubClassOf 'part_of' some 'pituitary gland' 'adenohypophysis' SubClassOf 'develops_from' some 'adenohypophyseal placode' 'adenohypophysis' DisjointWith 'neurohypophysis' http://purl.obolibrary.org/obo/CHEBI_57562 (R)-2-hydroxyoctadecanoate '(R)-2-hydroxyoctadecanoate' SubClassOf 'lipid' '(R)-2-hydroxyoctadecanoate' SubClassOf 'lipid' http://purl.obolibrary.org/obo/HP_0003111 Abnormality of ion homeostasis 'Abnormality of ion homeostasis' EquivalentTo 'has part' some ('concentration of' and ('has component' some 'abnormal') and ('towards' some 'monoatomic ion')) http://purl.obolibrary.org/obo/HP_0003110 Abnormality of urine homeostasis 'Abnormality of urine homeostasis' EquivalentTo 'has part' some ('quality' and ('inheres_in' some ('homeostatic process' and ('part_of' some 'urine'))) and ('has component' some 'abnormal')) http://purl.obolibrary.org/obo/UBERON_0002198 neurohypophysis 'neurohypophysis' SubClassOf 'animal component' 'neurohypophysis' SubClassOf http://purl.obolibrary.org/obo/UBERON_0010134 'neurohypophysis' SubClassOf http://purl.obolibrary.org/obo/UBERON_0003296 'adenohypophysis' DisjointWith 'neurohypophysis' http://www.orpha.net/ORDO/Orphanet_1473 Uveal coloboma - cleft lip and palate - intellectual disability 'Uveal coloboma - cleft lip and palate - intellectual disability' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Uveal coloboma - cleft lip and palate - intellectual disability' SubClassOf 'Orofacial clefting syndrome' 'Uveal coloboma - cleft lip and palate - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Uveal coloboma - cleft lip and palate - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Uveal coloboma - cleft lip and palate - intellectual disability' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Uveal coloboma - cleft lip and palate - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 'Uveal coloboma - cleft lip and palate - intellectual disability' SubClassOf 'Orofacial clefting syndrome' http://www.orpha.net/ORDO/Orphanet_276630 Symptomatic form of Coffin-Lowry syndrome in female carriers 'Symptomatic form of Coffin-Lowry syndrome in female carriers' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007 http://www.orpha.net/ORDO/Orphanet_1471 Coloboma of macula - brachydactyly type B 'Coloboma of macula - brachydactyly type B' SubClassOf 'Colobomatous and areolar dystrophy' 'Coloboma of macula - brachydactyly type B' SubClassOf 'Colobomatous and areolar dystrophy' http://www.orpha.net/ORDO/Orphanet_166265 Dentinogenesis imperfecta type 3 'Dentinogenesis imperfecta type 3' SubClassOf 'Dentinogenesis imperfecta' 'Dentinogenesis imperfecta type 3' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003847 'Dentinogenesis imperfecta type 3' SubClassOf 'Dentinogenesis imperfecta' http://www.orpha.net/ORDO/Orphanet_251355 Sickle cell disease associated with an other hemoglobin anomaly 'Sickle cell disease associated with an other hemoglobin anomaly' SubClassOf 'Sickle cell disease and related diseases' 'Sickle cell disease associated with an other hemoglobin anomaly' SubClassOf 'Sickle cell disease and related diseases' http://www.orpha.net/ORDO/Orphanet_166260 Dentinogenesis imperfecta type 2 'Dentinogenesis imperfecta type 2' SubClassOf 'Dentinogenesis imperfecta' 'Dentinogenesis imperfecta type 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003847 'Dentinogenesis imperfecta type 2' SubClassOf 'Dentinogenesis imperfecta' http://www.orpha.net/ORDO/Orphanet_1479 Atrial septal defect - atrioventricular conduction defects 'Atrial septal defect - atrioventricular conduction defects' SubClassOf 'Rare syndrome with cardiac malformations' 'Atrial septal defect - atrioventricular conduction defects' SubClassOf 'Genetic cardiac rhythm disease' 'Atrial septal defect - atrioventricular conduction defects' SubClassOf 'atrial heart septal defect' 'Atrial septal defect - atrioventricular conduction defects' SubClassOf 'Rare syndrome with cardiac malformations' 'Atrial septal defect - atrioventricular conduction defects' SubClassOf 'Genetic cardiac rhythm disease' http://purl.obolibrary.org/obo/HP_0003119 Abnormality of lipid metabolism 'Abnormality of lipid metabolism' EquivalentTo 'has part' some ('quality' and ('has component' some 'abnormal') and ('inheres in part of' some 'lipid metabolic process')) http://www.orpha.net/ORDO/Orphanet_1475 Renal coloboma syndrome 'Renal coloboma syndrome' SubClassOf 'Rare eye disease due to a differentiation anomaly' 'Renal coloboma syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Renal coloboma syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Renal coloboma syndrome' SubClassOf 'Rare eye disease due to a differentiation anomaly' 'Renal coloboma syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Renal coloboma syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 'Renal coloboma syndrome' SubClassOf 'Rare genetic neurological disorder' 'Renal coloboma syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' http://www.orpha.net/ORDO/Orphanet_35909 Combined deficiency of factor V and factor VIII 'Combined deficiency of factor V and factor VIII' SubClassOf 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' 'Combined deficiency of factor V and factor VIII' SubClassOf 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' http://purl.obolibrary.org/obo/HP_0003124 hypercholesterolemia 'hypercholesterolemia' SubClassOf 'has part' some ('increased concentration' and ('inheres_in' some ('cholesterol' and ('part_of' some 'blood'))) and ('towards' some 'abnormal')) 'hypercholesterolemia' SubClassOf 'has part' some ('quality' and ('has component' some 'abnormal') and ('inheres in part of' some 'lipid metabolic process')) http://www.orpha.net/ORDO/Orphanet_1484 Contractures - ectodermal dysplasia - cleft lip/palate 'Contractures - ectodermal dysplasia - cleft lip/palate' SubClassOf 'Ectodermal dysplasia syndrome' 'Contractures - ectodermal dysplasia - cleft lip/palate' SubClassOf 'Orofacial clefting syndrome' 'Contractures - ectodermal dysplasia - cleft lip/palate' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Contractures - ectodermal dysplasia - cleft lip/palate' SubClassOf 'Ectodermal dysplasia syndrome' 'Contractures - ectodermal dysplasia - cleft lip/palate' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Contractures - ectodermal dysplasia - cleft lip/palate' SubClassOf 'Orofacial clefting syndrome' 'Contractures - ectodermal dysplasia - cleft lip/palate' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 http://www.orpha.net/ORDO/Orphanet_1485 Arthrogryposis - hyperkeratosis, lethal form 'Arthrogryposis - hyperkeratosis, lethal form' SubClassOf 'Arthrogryposis multiplex congenita' 'Arthrogryposis - hyperkeratosis, lethal form' SubClassOf 'Arthrogryposis multiplex congenita' http://www.orpha.net/ORDO/Orphanet_166295 Benign non-familial infantile seizures 'Benign non-familial infantile seizures' SubClassOf 'Benign partial infantile seizures' 'Benign non-familial infantile seizures' SubClassOf 'Benign partial infantile seizures' http://www.orpha.net/ORDO/Orphanet_1480 Ventricular septal defect 'Ventricular septal defect' SubClassOf 'heart disease' 'Ventricular septal defect' SubClassOf 'heart disease' http://www.orpha.net/ORDO/Orphanet_1488 Cooper-Jabs syndrome 'Cooper-Jabs syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Cooper-Jabs syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_166299 Benign partial epilepsy of infancy with complex partial seizures 'Benign partial epilepsy of infancy with complex partial seizures' SubClassOf 'Benign non-familial infantile seizures' 'Benign partial epilepsy of infancy with complex partial seizures' SubClassOf 'Benign non-familial infantile seizures' http://www.orpha.net/ORDO/Orphanet_1486 Lethal congenital contracture syndrome type 1 'Lethal congenital contracture syndrome type 1' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Lethal congenital contracture syndrome type 1' SubClassOf 'Lethal congenital contracture syndrome' 'Lethal congenital contracture syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015222 'Lethal congenital contracture syndrome type 1' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Lethal congenital contracture syndrome type 1' SubClassOf 'Lethal congenital contracture syndrome' 'Lethal congenital contracture syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015929 http://purl.obolibrary.org/obo/CHEBI_33568 adrenaline 'adrenaline' SubClassOf 'has_role' some 'hormone role' http://www.orpha.net/ORDO/Orphanet_1487 Cooks syndrome 'Cooks syndrome' SubClassOf 'Syndrome with brachydactyly' 'Cooks syndrome' SubClassOf 'Syndromic nail anomaly' 'Cooks syndrome' SubClassOf 'Syndrome with brachydactyly' 'Cooks syndrome' SubClassOf 'Syndromic nail anomaly' http://www.orpha.net/ORDO/Orphanet_289902 3-methylglutaconic aciduria '3-methylglutaconic aciduria' SubClassOf 'Classic organic aciduria' '3-methylglutaconic aciduria' SubClassOf 'Classic organic aciduria' http://www.orpha.net/ORDO/Orphanet_1495 Intellectual disability - hypoplastic corpus callosum - preauricular tag 'Intellectual disability - hypoplastic corpus callosum - preauricular tag' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Intellectual disability - hypoplastic corpus callosum - preauricular tag' SubClassOf 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' 'Intellectual disability - hypoplastic corpus callosum - preauricular tag' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Intellectual disability - hypoplastic corpus callosum - preauricular tag' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Intellectual disability - hypoplastic corpus callosum - preauricular tag' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016055 'Intellectual disability - hypoplastic corpus callosum - preauricular tag' SubClassOf 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' http://www.orpha.net/ORDO/Orphanet_1496 Corpus callosum agenesis - neuronopathy 'Corpus callosum agenesis - neuronopathy' SubClassOf 'Spinal muscular atrophy associated with central nervous system anomaly' 'Corpus callosum agenesis - neuronopathy' SubClassOf 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' 'Corpus callosum agenesis - neuronopathy' SubClassOf 'Spinal muscular atrophy associated with central nervous system anomaly' 'Corpus callosum agenesis - neuronopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016055 'Corpus callosum agenesis - neuronopathy' SubClassOf 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' http://www.orpha.net/ORDO/Orphanet_1493 Vici syndrome 'Vici syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Vici syndrome' SubClassOf 'Genetic hypopigmentation of the skin' 'Vici syndrome' SubClassOf 'Syndromic cataract' 'Vici syndrome' SubClassOf 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' 'Vici syndrome' SubClassOf 'Syndrome associated with dilated cardiomyopathy' 'Vici syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Vici syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018035 'Vici syndrome' SubClassOf 'autosomal recessive disease' 'Vici syndrome' SubClassOf 'Genetic hypopigmentation of the skin' 'Vici syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 'Vici syndrome' SubClassOf 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' 'Vici syndrome' SubClassOf 'Syndromic cataract' 'Vici syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016055 'Vici syndrome' SubClassOf 'Syndrome associated with dilated cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_166286 Porokeratotic eccrine ostial and dermal duct nevus 'Porokeratotic eccrine ostial and dermal duct nevus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024482 'Porokeratotic eccrine ostial and dermal duct nevus' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Porokeratotic eccrine ostial and dermal duct nevus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024247 'Porokeratotic eccrine ostial and dermal duct nevus' SubClassOf 'melanocytic nevus' http://www.orpha.net/ORDO/Orphanet_1490 Corneal dystrophy - perceptive deafness 'Corneal dystrophy - perceptive deafness' SubClassOf 'Syndromic corneal dystrophy' 'Corneal dystrophy - perceptive deafness' SubClassOf 'Syndromic genetic deafness' 'Corneal dystrophy - perceptive deafness' SubClassOf 'Syndromic corneal dystrophy' 'Corneal dystrophy - perceptive deafness' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_166282 Familial sick sinus syndrome 'Familial sick sinus syndrome' SubClassOf 'Genetic cardiac rhythm disease' 'Familial sick sinus syndrome' SubClassOf 'Genetic cardiac rhythm disease' 'Familial sick sinus syndrome' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0001823 and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) 'Familial sick sinus syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001823 http://www.orpha.net/ORDO/Orphanet_1497 X-linked complicated corpus callosum dysgenesis 'X-linked complicated corpus callosum dysgenesis' SubClassOf 'L1 syndrome' 'X-linked complicated corpus callosum dysgenesis' SubClassOf 'L1 syndrome' http://purl.obolibrary.org/obo/HP_0003146 hypocholesterolemia 'hypocholesterolemia' SubClassOf ('part_of' some 'blood') and ('has part' some 'decreased concentration') and ('inheres_in' some 'cholesterol') and ('towards' some 'abnormal') 'hypocholesterolemia' SubClassOf 'has part' some ('quality' and ('has component' some 'abnormal') and ('inheres in part of' some 'lipid metabolic process')) http://www.orpha.net/ORDO/Orphanet_276608 Adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia 'Adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia' SubClassOf 'Familial hyperinsulinism' 'Adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia' SubClassOf 'Familial hyperinsulinism' http://www.ebi.ac.uk/efo/EFO_1000062 lactose intolerance 'lactose intolerance' SubClassOf 'nutritional disorder' 'lactose intolerance' SubClassOf 'Disorder of carbohydrate metabolism' 'lactose intolerance' SubClassOf 'nutritional disorder' 'lactose intolerance' SubClassOf 'Metabolic disease with intestinal involvement' http://www.ebi.ac.uk/efo/EFO_1001394 Peritoneal Fibrosis 'Peritoneal Fibrosis' SubClassOf 'digestive system disease' 'Peritoneal Fibrosis' SubClassOf 'has_disease_location' some ('peritoneum' or ('part_of' some 'peritoneum')) 'Peritoneal Fibrosis' EquivalentTo 'fibrosis' and ('has_disease_location' some 'peritoneum') http://www.orpha.net/ORDO/Orphanet_2750 Orofaciodigital syndrome type 1 'Orofaciodigital syndrome type 1' SubClassOf 'Genetic sebaceous gland anomaly' 'Orofaciodigital syndrome type 1' SubClassOf 'Syndromic renal or urinary tract malformation' 'Orofaciodigital syndrome type 1' SubClassOf 'Orofaciodigital syndrome' 'Orofaciodigital syndrome type 1' SubClassOf 'Syndromic genetic deafness' 'Orofaciodigital syndrome type 1' SubClassOf 'Ectodermal dysplasia syndrome' 'Orofaciodigital syndrome type 1' SubClassOf 'X-linked syndromic intellectual disability' 'Orofaciodigital syndrome type 1' SubClassOf 'Genetic sebaceous gland anomaly' 'Orofaciodigital syndrome type 1' SubClassOf 'ciliopathy' 'Orofaciodigital syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020642 'Orofaciodigital syndrome type 1' SubClassOf 'Syndromic renal or urinary tract malformation' 'Orofaciodigital syndrome type 1' SubClassOf 'Orofaciodigital syndrome' 'Orofaciodigital syndrome type 1' SubClassOf 'Familial cystic renal disease' 'Orofaciodigital syndrome type 1' SubClassOf 'Syndromic genetic deafness' 'Orofaciodigital syndrome type 1' SubClassOf 'Ectodermal dysplasia syndrome' 'Orofaciodigital syndrome type 1' SubClassOf 'X-linked syndromic intellectual disability' http://www.ebi.ac.uk/efo/EFO_1000063 lactose intolerance adult type 'lactose intolerance adult type' SubClassOf 'lactose intolerance' 'lactose intolerance adult type' SubClassOf 'lactose intolerance' http://www.ebi.ac.uk/efo/EFO_1001393 Periodontal Pocket 'Periodontal Pocket' SubClassOf 'mouth disease' 'Periodontal Pocket' SubClassOf 'mouth disease' http://www.ebi.ac.uk/efo/EFO_1000060 intestinal disaccharide deficiency and disaccharide malabsorption 'intestinal disaccharide deficiency and disaccharide malabsorption' SubClassOf 'malabsorption syndrome' 'intestinal disaccharide deficiency and disaccharide malabsorption' SubClassOf 'metabolic disease' 'intestinal disaccharide deficiency and disaccharide malabsorption' SubClassOf 'has_disease_location' some 'digestive system' 'intestinal disaccharide deficiency and disaccharide malabsorption' SubClassOf 'Metabolic disease with intestinal involvement' 'intestinal disaccharide deficiency and disaccharide malabsorption' SubClassOf 'malabsorption syndrome' 'intestinal disaccharide deficiency and disaccharide malabsorption' SubClassOf ('has component' some 'abnormal') and ('participates_in' some 'carbohydrate metabolic process') 'intestinal disaccharide deficiency and disaccharide malabsorption' SubClassOf http://purl.obolibrary.org/obo/MONDO_0037792 http://www.ebi.ac.uk/efo/EFO_1001392 Perimeningeal Infections 'Perimeningeal Infections' SubClassOf 'nervous system disease' 'Perimeningeal Infections' SubClassOf 'nervous system disease' http://www.ebi.ac.uk/efo/EFO_1000061 obsolete_carbohydrate metabolic disorder 'obsolete_carbohydrate metabolic disorder' SubClassOf 'obsolete class' 'obsolete_carbohydrate metabolic disorder' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001391 Periapical Periodontitis 'Periapical Periodontitis' SubClassOf 'periodontitis' 'Periapical Periodontitis' SubClassOf 'periodontitis' http://www.ebi.ac.uk/efo/EFO_1001390 Peri-Implantitis 'Peri-Implantitis' SubClassOf 'mouth disease' 'Peri-Implantitis' SubClassOf 'mouth disease' http://www.orpha.net/ORDO/Orphanet_1426 Greenberg dysplasia 'Greenberg dysplasia' SubClassOf 'Sterol biosynthesis disorder' 'Greenberg dysplasia' SubClassOf 'Chondrodysplasia punctata' 'Greenberg dysplasia' SubClassOf 'Sterol biosynthesis disorder' 'Greenberg dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021106 'Greenberg dysplasia' SubClassOf 'Chondrodysplasia punctata' 'Greenberg dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 http://www.orpha.net/ORDO/Orphanet_1427 Otospondylomegaepiphyseal dysplasia 'Otospondylomegaepiphyseal dysplasia' SubClassOf 'Type 11 collagen-related bone disorder' 'Otospondylomegaepiphyseal dysplasia' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Otospondylomegaepiphyseal dysplasia' SubClassOf 'Type 2 collagen-related bone disorder' 'Otospondylomegaepiphyseal dysplasia' SubClassOf 'Type 11 collagen-related bone disorder' 'Otospondylomegaepiphyseal dysplasia' SubClassOf 'osteochondrodysplasia' 'Otospondylomegaepiphyseal dysplasia' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Otospondylomegaepiphyseal dysplasia' SubClassOf 'Type 2 collagen-related bone disorder' http://www.ebi.ac.uk/efo/EFO_1000068 Acute Leukemia 'Acute Leukemia' SubClassOf 'leukemia' 'Acute Leukemia' SubClassOf 'leukemia' http://www.orpha.net/ORDO/Orphanet_2756 Orofaciodigital syndrome type 10 'Orofaciodigital syndrome type 10' SubClassOf 'Orofaciodigital syndrome' 'Orofaciodigital syndrome type 10' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Orofaciodigital syndrome type 10' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Orofaciodigital syndrome type 10' SubClassOf 'Orofaciodigital syndrome' http://www.ebi.ac.uk/efo/EFO_1000069 Adamantinomatous Craniopharyngioma 'Adamantinomatous Craniopharyngioma' SubClassOf 'brain neoplasm' 'Adamantinomatous Craniopharyngioma' SubClassOf 'has_disease_location' some ('brain' or ('part_of' some 'brain')) 'Adamantinomatous Craniopharyngioma' SubClassOf 'brain neoplasm' 'Adamantinomatous Craniopharyngioma' SubClassOf 'has_disease_location' some ('pituitary gland' or ('part_of' some 'pituitary gland')) 'Adamantinomatous Craniopharyngioma' SubClassOf 'has_disease_location' some ('cranium' or ('part_of' some 'cranium')) http://www.ebi.ac.uk/efo/EFO_1001399 Pneumonia, Aspiration 'Pneumonia, Aspiration' SubClassOf 'pneumonia' 'Pneumonia, Aspiration' SubClassOf 'pneumonia' 'Pneumonia, Aspiration' SubClassOf 'pneumonitis' http://www.orpha.net/ORDO/Orphanet_1425 Desbuquois syndrome 'Desbuquois syndrome' SubClassOf 'Primary bone dysplasia with multiple joint dislocations' 'Desbuquois syndrome' SubClassOf 'Malformation syndrome with connective tissue involvement' 'Desbuquois syndrome' SubClassOf 'Primary bone dysplasia with multiple joint dislocations' 'Desbuquois syndrome' SubClassOf 'osteochondrodysplasia' 'Desbuquois syndrome' SubClassOf 'Malformation syndrome with connective tissue involvement' http://www.orpha.net/ORDO/Orphanet_2755 Orofaciodigital syndrome type 8 'Orofaciodigital syndrome type 8' SubClassOf 'Orofaciodigital syndrome' 'Orofaciodigital syndrome type 8' SubClassOf 'Syndromic genetic deafness' 'Orofaciodigital syndrome type 8' SubClassOf 'Orofaciodigital syndrome' 'Orofaciodigital syndrome type 8' SubClassOf 'Syndromic genetic deafness' http://www.ebi.ac.uk/efo/EFO_1000066 ACTH-Producing Pituitary Gland Adenoma 'ACTH-Producing Pituitary Gland Adenoma' SubClassOf 'endocrine neoplasm' 'ACTH-Producing Pituitary Gland Adenoma' SubClassOf 'adenoma' 'ACTH-Producing Pituitary Gland Adenoma' SubClassOf 'brain neoplasm' 'ACTH-Producing Pituitary Gland Adenoma' SubClassOf 'endocrine neoplasm' 'ACTH-Producing Pituitary Gland Adenoma' SubClassOf 'adenoma' 'ACTH-Producing Pituitary Gland Adenoma' SubClassOf 'Pituitary Gland Adenoma' 'ACTH-Producing Pituitary Gland Adenoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0045058 'ACTH-Producing Pituitary Gland Adenoma' SubClassOf 'has_disease_location' some ('pituitary gland' or ('part_of' some 'pituitary gland')) http://www.ebi.ac.uk/efo/EFO_1001398 Pneumocephalus 'Pneumocephalus' SubClassOf 'brain disease' 'Pneumocephalus' SubClassOf 'brain disease' http://www.orpha.net/ORDO/Orphanet_1422 Chondrodysplasia - disorder of sex development 'Chondrodysplasia - disorder of sex development' SubClassOf 'Syndrome with 46,XY disorder of sex development' 'Chondrodysplasia - disorder of sex development' SubClassOf 'Primary bone dysplasia with micromelia' 'Chondrodysplasia - disorder of sex development' SubClassOf 'Syndrome with disorder of sex development of gynecological interest' 'Chondrodysplasia - disorder of sex development' SubClassOf 'Primary bone dysplasia with micromelia' 'Chondrodysplasia - disorder of sex development' SubClassOf 'Syndrome with 46,XY disorder of sex development' 'Chondrodysplasia - disorder of sex development' SubClassOf 'Syndrome with disorder of sex development of gynecological interest' 'Chondrodysplasia - disorder of sex development' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 http://www.orpha.net/ORDO/Orphanet_2754 Joubert syndrome with orofaciodigital defect 'Joubert syndrome with orofaciodigital defect' SubClassOf 'Joubert syndrome and related disorders' 'Joubert syndrome with orofaciodigital defect' SubClassOf 'Orofaciodigital syndrome' 'Joubert syndrome with orofaciodigital defect' SubClassOf 'Syndromic genetic deafness' 'Joubert syndrome with orofaciodigital defect' SubClassOf 'Genetic syndrome with a cerebellar malformation as major feature' 'Joubert syndrome with orofaciodigital defect' SubClassOf 'Orofaciodigital syndrome' 'Joubert syndrome with orofaciodigital defect' SubClassOf 'Syndromic genetic deafness' 'Joubert syndrome with orofaciodigital defect' SubClassOf http://purl.obolibrary.org/obo/MONDO_0013824 'Joubert syndrome with orofaciodigital defect' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Joubert syndrome with orofaciodigital defect' SubClassOf 'Non-syndromic genetic deafness' http://www.ebi.ac.uk/efo/EFO_1000067 ACTH-Producing Pituitary Gland Carcinoma 'ACTH-Producing Pituitary Gland Carcinoma' SubClassOf 'central nervous system cancer' 'ACTH-Producing Pituitary Gland Carcinoma' SubClassOf 'adenocarcinoma' 'ACTH-Producing Pituitary Gland Carcinoma' SubClassOf 'endocrine neoplasm' 'ACTH-Producing Pituitary Gland Carcinoma' SubClassOf 'brain neoplasm' 'ACTH-Producing Pituitary Gland Carcinoma' SubClassOf 'adenocarcinoma' 'ACTH-Producing Pituitary Gland Carcinoma' SubClassOf 'endocrine neoplasm' 'ACTH-Producing Pituitary Gland Carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0045058 'ACTH-Producing Pituitary Gland Carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017582 'ACTH-Producing Pituitary Gland Carcinoma' SubClassOf 'has_disease_location' some ('pituitary gland' or ('part_of' some 'pituitary gland')) http://www.ebi.ac.uk/efo/EFO_1001397 Piscirickettsiaceae Infections 'Piscirickettsiaceae Infections' SubClassOf 'bacterial disease' 'Piscirickettsiaceae Infections' SubClassOf 'bacterial disease' http://www.orpha.net/ORDO/Orphanet_1423 Lethal recessive chondrodysplasia 'Lethal recessive chondrodysplasia' SubClassOf 'Lethal chondrodysplasia' 'Lethal recessive chondrodysplasia' SubClassOf 'Lethal chondrodysplasia' http://www.orpha.net/ORDO/Orphanet_2753 Orofaciodigital syndrome type 4 'Orofaciodigital syndrome type 4' SubClassOf 'Short rib dysplasia' 'Orofaciodigital syndrome type 4' SubClassOf 'Syndromic genetic deafness' 'Orofaciodigital syndrome type 4' SubClassOf 'Orofaciodigital syndrome' 'Orofaciodigital syndrome type 4' SubClassOf 'Short rib dysplasia' 'Orofaciodigital syndrome type 4' SubClassOf 'Syndromic genetic deafness' 'Orofaciodigital syndrome type 4' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Orofaciodigital syndrome type 4' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015929 'Orofaciodigital syndrome type 4' SubClassOf 'Orofaciodigital syndrome' http://www.ebi.ac.uk/efo/EFO_1000064 Acinar Prostate Adenocarcinoma, Foamy Gland Variant 'Acinar Prostate Adenocarcinoma, Foamy Gland Variant' SubClassOf 'acinar cell carcinoma' 'Acinar Prostate Adenocarcinoma, Foamy Gland Variant' SubClassOf 'prostate adenocarcinoma' 'Acinar Prostate Adenocarcinoma, Foamy Gland Variant' SubClassOf 'acinar cell carcinoma' 'Acinar Prostate Adenocarcinoma, Foamy Gland Variant' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002493 'Acinar Prostate Adenocarcinoma, Foamy Gland Variant' SubClassOf 'prostate adenocarcinoma' 'Acinar Prostate Adenocarcinoma, Foamy Gland Variant' SubClassOf 'has_disease_location' some ('prostate gland' or ('part_of' some 'prostate gland')) http://www.ebi.ac.uk/efo/EFO_1001396 Pinta 'Pinta' SubClassOf 'infectious disease' 'Pinta' SubClassOf 'infectious disease' 'Pinta' SubClassOf 'has_disease_location' some ('zone of skin' or ('part_of' some 'zone of skin')) http://www.orpha.net/ORDO/Orphanet_1420 Lethal chondrodysplasia, Moerman type 'Lethal chondrodysplasia, Moerman type' SubClassOf 'Lethal chondrodysplasia' 'Lethal chondrodysplasia, Moerman type' SubClassOf 'Lethal chondrodysplasia' http://www.orpha.net/ORDO/Orphanet_2752 Orofaciodigital syndrome type 3 'Orofaciodigital syndrome type 3' SubClassOf 'Syndromic genetic deafness' 'Orofaciodigital syndrome type 3' SubClassOf 'Orofaciodigital syndrome' 'Orofaciodigital syndrome type 3' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Orofaciodigital syndrome type 3' SubClassOf 'Orofaciodigital syndrome' 'Orofaciodigital syndrome type 3' SubClassOf 'Syndromic genetic deafness' http://www.ebi.ac.uk/efo/EFO_1000065 Acinar Prostate Mucinous Adenocarcinoma 'Acinar Prostate Mucinous Adenocarcinoma' SubClassOf 'mucinous carcinoma' 'Acinar Prostate Mucinous Adenocarcinoma' SubClassOf 'prostate adenocarcinoma' 'Acinar Prostate Mucinous Adenocarcinoma' SubClassOf 'acinar cell carcinoma' 'Acinar Prostate Mucinous Adenocarcinoma' SubClassOf 'has_disease_location' some ('prostate gland' or ('part_of' some 'prostate gland')) 'Acinar Prostate Mucinous Adenocarcinoma' SubClassOf 'has_disease_location' some 'acinar cell' 'Acinar Prostate Mucinous Adenocarcinoma' SubClassOf 'mucinous carcinoma' 'Acinar Prostate Mucinous Adenocarcinoma' SubClassOf 'prostate adenocarcinoma' 'Acinar Prostate Mucinous Adenocarcinoma' SubClassOf 'acinar cell carcinoma' 'Acinar Prostate Mucinous Adenocarcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002493 http://www.ebi.ac.uk/efo/EFO_1001395 Phlebitis 'Phlebitis' SubClassOf 'vascular disease' 'Phlebitis' SubClassOf 'vascular disease' 'Phlebitis' SubClassOf 'vasculitis' 'Phlebitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004634 http://www.orpha.net/ORDO/Orphanet_1421 Lethal chondrodysplasia, Seller type 'Lethal chondrodysplasia, Seller type' SubClassOf 'Lethal chondrodysplasia' 'Lethal chondrodysplasia, Seller type' SubClassOf 'Lethal chondrodysplasia' http://www.orpha.net/ORDO/Orphanet_2751 Orofaciodigital syndrome type 2 'Orofaciodigital syndrome type 2' SubClassOf 'Syndromic genetic deafness' 'Orofaciodigital syndrome type 2' SubClassOf 'Orofaciodigital syndrome' 'Orofaciodigital syndrome type 2' SubClassOf 'Syndromic genetic deafness' 'Orofaciodigital syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Orofaciodigital syndrome type 2' SubClassOf 'Orofaciodigital syndrome' http://www.orpha.net/ORDO/Orphanet_2749 Oromandibular-limb hypogenesis syndrome 'Oromandibular-limb hypogenesis syndrome' SubClassOf 'Oromandibular-limb anomalies syndrome' 'Oromandibular-limb hypogenesis syndrome' SubClassOf 'Dysostosis with limb and face anomalies as a major feature' 'Oromandibular-limb hypogenesis syndrome' SubClassOf 'Oromandibular-limb anomalies syndrome' 'Oromandibular-limb hypogenesis syndrome' SubClassOf 'Dysostosis with limb and face anomalies as a major feature' http://www.orpha.net/ORDO/Orphanet_371047 Congenital disorder of glycosylation with neurological involvement 'Congenital disorder of glycosylation with neurological involvement' SubClassOf 'Neurometabolic disease' 'Congenital disorder of glycosylation with neurological involvement' SubClassOf 'Congenital disorder of glycosylation' 'Congenital disorder of glycosylation with neurological involvement' SubClassOf 'Neurometabolic disease' http://www.orpha.net/ORDO/Orphanet_324737 SRD5A3-CDG 'SRD5A3-CDG' SubClassOf 'Disorder of multiple glycosylation' 'SRD5A3-CDG' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'SRD5A3-CDG' SubClassOf 'Congenital disorder of glycosylation with skin involvement' 'SRD5A3-CDG' SubClassOf 'Rare eye disease due to a differentiation anomaly' 'SRD5A3-CDG' SubClassOf 'Disorder of multiple glycosylation' 'SRD5A3-CDG' SubClassOf 'Developmental anomaly of metabolic origin' 'SRD5A3-CDG' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'SRD5A3-CDG' SubClassOf 'congenital disorder of glycosylation type I' 'SRD5A3-CDG' SubClassOf 'Congenital disorder of glycosylation with skin involvement' 'SRD5A3-CDG' SubClassOf 'Rare eye disease due to a differentiation anomaly' 'SRD5A3-CDG' SubClassOf 'Syndromic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_371040 Primary qualitative or quantitative defects of alpha-dystroglycan 'Primary qualitative or quantitative defects of alpha-dystroglycan' SubClassOf 'Qualitative or quantitative defects of alpha-dystroglycan' 'Primary qualitative or quantitative defects of alpha-dystroglycan' SubClassOf 'Qualitative or quantitative defects of alpha-dystroglycan' http://www.ebi.ac.uk/efo/EFO_1000073 Adenosquamous Carcinoma 'Adenosquamous Carcinoma' SubClassOf 'carcinoma' 'Adenosquamous Carcinoma' SubClassOf 'carcinoma' 'Adenosquamous Carcinoma' SubClassOf 'squamous cell carcinoma' http://www.ebi.ac.uk/efo/EFO_1000074 Adrenal Gland Myelolipoma 'Adrenal Gland Myelolipoma' SubClassOf 'adrenal gland neoplasm' 'Adrenal Gland Myelolipoma' SubClassOf 'neoplasm' 'Adrenal Gland Myelolipoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021511 'Adrenal Gland Myelolipoma' SubClassOf 'has_disease_location' some ('adrenal gland' or ('part_of' some 'adrenal gland')) http://www.orpha.net/ORDO/Orphanet_2760 OSLAM syndrome 'OSLAM syndrome' SubClassOf 'bone neoplasm' 'OSLAM syndrome' SubClassOf 'Syndrome with synostosis or other joint formation defect' http://www.ebi.ac.uk/efo/EFO_1000071 Adenoid Cystic Breast Carcinoma 'Adenoid Cystic Breast Carcinoma' SubClassOf 'breast carcinoma' 'Adenoid Cystic Breast Carcinoma' SubClassOf 'adenoid cystic carcinoma' 'Adenoid Cystic Breast Carcinoma' SubClassOf 'breast carcinoma' 'Adenoid Cystic Breast Carcinoma' SubClassOf 'adenoid cystic carcinoma' 'Adenoid Cystic Breast Carcinoma' SubClassOf 'breast adenocarcinoma' 'Adenoid Cystic Breast Carcinoma' SubClassOf 'has_disease_location' some ('breast' or ('part_of' some 'breast')) 'Adenoid Cystic Breast Carcinoma' SubClassOf 'Invasive Breast Carcinoma' http://www.orpha.net/ORDO/Orphanet_46627 Char syndrome 'Char syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020169 'Char syndrome' SubClassOf 'Genetic vascular anomaly' 'Char syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007 'Char syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018758 'Char syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043218 http://www.ebi.ac.uk/efo/EFO_1000072 Adenomatoid Odontogenic Tumor 'Adenomatoid Odontogenic Tumor' SubClassOf 'oral cavity cancer' 'Adenomatoid Odontogenic Tumor' SubClassOf 'has_disease_location' some ('mouth' or ('part_of' some 'mouth')) 'Adenomatoid Odontogenic Tumor' SubClassOf 'oral cavity cancer' http://www.ebi.ac.uk/efo/EFO_1000070 Adenofibroma 'Adenofibroma' SubClassOf 'fibroma' 'Adenofibroma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000624 'Adenofibroma' SubClassOf 'fibroma' http://www.orpha.net/ORDO/Orphanet_324718 Hereditary cerebral hemorrhage with amyloidosis, Flemish type 'Hereditary cerebral hemorrhage with amyloidosis, Flemish type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0011583 http://www.orpha.net/ORDO/Orphanet_1437 Ring chromosome 1 'Ring chromosome 1' SubClassOf 'Ring chromosome' 'Ring chromosome 1' SubClassOf 'Ring chromosome' http://www.orpha.net/ORDO/Orphanet_2769 Familial osteodysplasia, Anderson type 'Familial osteodysplasia, Anderson type' SubClassOf 'Dysostosis with predominant craniofacial involvement' 'Familial osteodysplasia, Anderson type' SubClassOf 'Dysostosis with predominant craniofacial involvement' http://www.orpha.net/ORDO/Orphanet_1438 Ring chromosome 10 'Ring chromosome 10' SubClassOf 'Ring chromosome' 'Ring chromosome 10' SubClassOf 'Ring chromosome' 'Ring chromosome 10' SubClassOf 'Rare genetic neurological disorder' 'Ring chromosome 10' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Ring chromosome 10' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 http://www.orpha.net/ORDO/Orphanet_2768 Blount disease 'Blount disease' SubClassOf 'Bent bone dysplasia' 'Blount disease' SubClassOf 'Bent bone dysplasia' 'Blount disease' SubClassOf 'osteochondrodysplasia' http://www.ebi.ac.uk/efo/EFO_1000079 Ampulla of Vater Carcinoma 'Ampulla of Vater Carcinoma' SubClassOf 'carcinoma' 'Ampulla of Vater Carcinoma' SubClassOf 'biliary tract disease' 'Ampulla of Vater Carcinoma' SubClassOf 'carcinoma' 'Ampulla of Vater Carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003090 'Ampulla of Vater Carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000919 'Ampulla of Vater Carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021335 http://www.orpha.net/ORDO/Orphanet_1435 Choroideremia - deafness - obesity 'Choroideremia - deafness - obesity' SubClassOf 'Syndromic genetic deafness' 'Choroideremia - deafness - obesity' SubClassOf 'Syndromic obesity' 'Choroideremia - deafness - obesity' SubClassOf 'Unclassified familial retinal dystrophy' 'Choroideremia - deafness - obesity' SubClassOf 'Syndromic genetic deafness' 'Choroideremia - deafness - obesity' SubClassOf 'Syndromic obesity' 'Choroideremia - deafness - obesity' SubClassOf 'Unclassified familial retinal dystrophy' http://www.orpha.net/ORDO/Orphanet_2767 Carpotarsal osteochondromatosis 'Carpotarsal osteochondromatosis' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'Carpotarsal osteochondromatosis' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' http://www.orpha.net/ORDO/Orphanet_1436 Skeletal dysplasia - intellectual disability 'Skeletal dysplasia - intellectual disability' SubClassOf 'Syndromic anorectal malformation' 'Skeletal dysplasia - intellectual disability' SubClassOf 'Spondylodysplastic dysplasia' 'Skeletal dysplasia - intellectual disability' SubClassOf 'X-linked syndromic intellectual disability' 'Skeletal dysplasia - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Skeletal dysplasia - intellectual disability' SubClassOf 'Syndromic anorectal malformation' 'Skeletal dysplasia - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 'Skeletal dysplasia - intellectual disability' SubClassOf 'Spondylodysplastic dysplasia' 'Skeletal dysplasia - intellectual disability' SubClassOf 'X-linked syndromic intellectual disability' http://www.ebi.ac.uk/efo/EFO_1000077 AIDS-Related Primary Central Nervous System Lymphoma 'AIDS-Related Primary Central Nervous System Lymphoma' SubClassOf 'lymphoma' 'AIDS-Related Primary Central Nervous System Lymphoma' SubClassOf 'has_disease_location' some ('central nervous system' or ('part_of' some 'central nervous system')) 'AIDS-Related Primary Central Nervous System Lymphoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017341 'AIDS-Related Primary Central Nervous System Lymphoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024878 'AIDS-Related Primary Central Nervous System Lymphoma' SubClassOf http://purl.obolibrary.org/obo/RO_0004022 some 'AIDS' 'AIDS-Related Primary Central Nervous System Lymphoma' SubClassOf 'lymphoma' http://www.orpha.net/ORDO/Orphanet_1433 Choroidal atrophy - alopecia 'Choroidal atrophy - alopecia' SubClassOf 'Ectodermal dysplasia syndrome' 'Choroidal atrophy - alopecia' SubClassOf 'Ectodermal dysplasia syndrome' http://www.ebi.ac.uk/efo/EFO_1000078 Ameloblastic Carcinoma 'Ameloblastic Carcinoma' SubClassOf 'carcinoma' 'Ameloblastic Carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021192 'Ameloblastic Carcinoma' SubClassOf 'carcinoma' 'Ameloblastic Carcinoma' SubClassOf 'Digestive System Carcinoma' 'Ameloblastic Carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002038 'Ameloblastic Carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002415 http://www.orpha.net/ORDO/Orphanet_1434 Choroideremia - hypopituitarism 'Choroideremia - hypopituitarism' SubClassOf 'Unclassified familial retinal dystrophy' 'Choroideremia - hypopituitarism' SubClassOf 'Unclassified familial retinal dystrophy' http://www.ebi.ac.uk/efo/EFO_1000075 Adrenal Gland Neuroblastoma 'Adrenal Gland Neuroblastoma' SubClassOf 'neuroblastoma' 'Adrenal Gland Neuroblastoma' SubClassOf 'adrenal gland neoplasm' 'Adrenal Gland Neuroblastoma' SubClassOf 'Malignant Germ Cell Tumor' 'Adrenal Gland Neuroblastoma' SubClassOf 'neuroblastoma' 'Adrenal Gland Neuroblastoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003606 'Adrenal Gland Neuroblastoma' SubClassOf 'adrenal gland neoplasm' 'Adrenal Gland Neuroblastoma' SubClassOf 'tumour of cranial and spinal nerves' 'Adrenal Gland Neuroblastoma' SubClassOf 'central nervous system cancer' 'Adrenal Gland Neuroblastoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000551 'Adrenal Gland Neuroblastoma' SubClassOf 'has_disease_location' some ('adrenal gland' or ('part_of' some 'adrenal gland')) http://www.orpha.net/ORDO/Orphanet_1431 Paroxysmal dyskinesia 'Paroxysmal dyskinesia' SubClassOf 'Paroxysmal dystonia' 'Paroxysmal dyskinesia' SubClassOf 'Paroxysmal dystonia' http://www.orpha.net/ORDO/Orphanet_2763 Osteocraniostenosis 'Osteocraniostenosis' SubClassOf 'Slender bone dysplasia' 'Osteocraniostenosis' SubClassOf 'Slender bone dysplasia' http://www.ebi.ac.uk/efo/EFO_1000076 Adrenal Medullary Hyperplasia 'Adrenal Medullary Hyperplasia' SubClassOf 'endocrine system disease' 'Adrenal Medullary Hyperplasia' SubClassOf 'hyperplasia' 'Adrenal Medullary Hyperplasia' SubClassOf 'has_disease_location' some ('adrenal medulla' or ('part_of' some 'adrenal medulla')) 'Adrenal Medullary Hyperplasia' SubClassOf 'adrenal gland disease' 'Adrenal Medullary Hyperplasia' SubClassOf 'hyperplasia' http://www.orpha.net/ORDO/Orphanet_2762 Progressive osseous heteroplasia 'Progressive osseous heteroplasia' SubClassOf 'Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments' 'Progressive osseous heteroplasia' SubClassOf 'Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments' 'Progressive osseous heteroplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021154 'Progressive osseous heteroplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018798 http://www.orpha.net/ORDO/Orphanet_397685 Familial hyperprolactinemia 'Familial hyperprolactinemia' SubClassOf 'Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin' 'Familial hyperprolactinemia' SubClassOf 'Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin' 'Familial hyperprolactinemia' SubClassOf 'Rare genetic hypothalamic or pituitary disease' 'Familial hyperprolactinemia' SubClassOf 'Rare genetic neurological disorder' 'Familial hyperprolactinemia' SubClassOf 'Inborn errors of metabolism' 'Familial hyperprolactinemia' SubClassOf 'Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin' 'Familial hyperprolactinemia' SubClassOf 'hyperprolactinemia' 'Familial hyperprolactinemia' SubClassOf 'Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin' 'Familial hyperprolactinemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015889 'Familial hyperprolactinemia' SubClassOf 'Rare genetic hypothalamic or pituitary disease' 'Familial hyperprolactinemia' EquivalentTo 'hyperprolactinemia' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) http://purl.obolibrary.org/obo/CHEBI_34892 nocodazole 'nocodazole' SubClassOf 'has_role' some 'antineoplastic agent' http://www.orpha.net/ORDO/Orphanet_1428 Familial chondromalacia patellae 'Familial chondromalacia patellae' SubClassOf 'Patellar dysostosis' 'Familial chondromalacia patellae' SubClassOf 'Patellar dysostosis' 'Familial chondromalacia patellae' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044967 'Familial chondromalacia patellae' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002342 http://www.orpha.net/ORDO/Orphanet_1429 Benign familial chorea 'Benign familial chorea' SubClassOf 'Neurodegenerative disease with chorea' 'Benign familial chorea' SubClassOf 'Huntington disease-like syndrome' 'Benign familial chorea' SubClassOf 'chorea' http://www.orpha.net/ORDO/Orphanet_2759 Imperforate oropharynx - costo vetebral anomalies 'Imperforate oropharynx - costo vetebral anomalies' SubClassOf 'Dysostosis with predominant vertebral and costal involvement' 'Imperforate oropharynx - costo vetebral anomalies' SubClassOf 'Dysostosis with predominant vertebral and costal involvement' http://www.orpha.net/ORDO/Orphanet_309108 Pancreatic colipase deficiency 'Pancreatic colipase deficiency' SubClassOf 'Disorder of lipid absorption and transport' 'Pancreatic colipase deficiency' SubClassOf 'Pancreatic triacylglycerol lipase deficiency' http://www.orpha.net/ORDO/Orphanet_324723 Hereditary cerebral hemorrhage with amyloidosis, Arctic type 'Hereditary cerebral hemorrhage with amyloidosis, Arctic type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0011583 http://www.ebi.ac.uk/efo/EFO_1000084 Angioleiomyoma 'Angioleiomyoma' SubClassOf 'neoplasm' 'Angioleiomyoma' SubClassOf 'neoplasm' 'Angioleiomyoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003342 'Angioleiomyoma' SubClassOf 'has_disease_location' some ('dermis' or ('part_of' some 'dermis')) http://www.orpha.net/ORDO/Orphanet_1440 Ring chromosome 14 'Ring chromosome 14' SubClassOf 'Ring chromosome' 'Ring chromosome 14' SubClassOf 'Ring chromosome' 'Ring chromosome 14' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015652 http://www.orpha.net/ORDO/Orphanet_2772 Congenital osteogenesis imperfecta - microcephaly - cataracts 'Congenital osteogenesis imperfecta - microcephaly - cataracts' SubClassOf 'Primary bone dysplasia with decreased bone density' 'Congenital osteogenesis imperfecta - microcephaly - cataracts' SubClassOf 'Primary bone dysplasia with decreased bone density' http://www.ebi.ac.uk/efo/EFO_1000085 Angiolipoma 'Angiolipoma' SubClassOf 'lipoma' 'Angiolipoma' SubClassOf 'lipoma' http://www.orpha.net/ORDO/Orphanet_1441 Ring chromosome 17 'Ring chromosome 17' SubClassOf 'Ring chromosome' 'Ring chromosome 17' SubClassOf 'Ring chromosome' http://www.orpha.net/ORDO/Orphanet_2771 Bruck syndrome 'Bruck syndrome' SubClassOf 'Rare disease with dentinogenesis imperfecta' 'Bruck syndrome' SubClassOf 'Primary bone dysplasia with decreased bone density' 'Bruck syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Bruck syndrome' SubClassOf 'Rare disease with dentinogenesis imperfecta' 'Bruck syndrome' SubClassOf 'Primary bone dysplasia with decreased bone density' http://www.ebi.ac.uk/efo/EFO_1000082 Anaplastic (Malignant) Meningioma 'Anaplastic (Malignant) Meningioma' SubClassOf 'Meningioma' 'Anaplastic (Malignant) Meningioma' SubClassOf 'has_disease_location' some ('meninx' or ('part_of' some 'meninx')) 'Anaplastic (Malignant) Meningioma' SubClassOf 'Meningioma' http://www.orpha.net/ORDO/Orphanet_2770 Nasu-Hakola disease 'Nasu-Hakola disease' SubClassOf 'Leukodystrophy' 'Nasu-Hakola disease' SubClassOf 'Primary osteolysis' 'Nasu-Hakola disease' SubClassOf 'autosomal recessive disease' 'Nasu-Hakola disease' SubClassOf 'Leukodystrophy' 'Nasu-Hakola disease' SubClassOf 'Primary osteolysis' 'Nasu-Hakola disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 http://www.ebi.ac.uk/efo/EFO_1000083 Anaplastic Large Cell Lymphoma, ALK-Negative 'Anaplastic Large Cell Lymphoma, ALK-Negative' SubClassOf 'anaplastic large cell lymphoma' 'Anaplastic Large Cell Lymphoma, ALK-Negative' SubClassOf 'anaplastic large cell lymphoma' http://purl.obolibrary.org/obo/CHEBI_21549 N-acetyl-L-glutamate(1-) 'N-acetyl-L-glutamate(1-)' SubClassOf 'chemical entity' 'N-acetyl-L-glutamate(1-)' SubClassOf 'chemical entity' http://www.ebi.ac.uk/efo/EFO_1000080 Anal Melanoma 'Anal Melanoma' SubClassOf 'melanoma' 'Anal Melanoma' SubClassOf 'anal neoplasm' 'Anal Melanoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003199 'Anal Melanoma' SubClassOf 'melanoma' 'Anal Melanoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002167 'Anal Melanoma' SubClassOf 'has_disease_location' some ('anal region' or ('part_of' some 'anal region')) 'Anal Melanoma' SubClassOf 'anal neoplasm' http://www.orpha.net/ORDO/Orphanet_35981 Polymicrogyria 'Polymicrogyria' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015572 'Polymicrogyria' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 http://www.orpha.net/ORDO/Orphanet_324708 Hereditary cerebral hemorrhage with amyloidosis, Iowa type 'Hereditary cerebral hemorrhage with amyloidosis, Iowa type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0011583 http://www.ebi.ac.uk/efo/EFO_1000081 Anal Squamous Cell Carcinoma 'Anal Squamous Cell Carcinoma' SubClassOf 'anal neoplasm' 'Anal Squamous Cell Carcinoma' SubClassOf 'squamous cell carcinoma' 'Anal Squamous Cell Carcinoma' SubClassOf 'anal neoplasm' 'Anal Squamous Cell Carcinoma' SubClassOf 'has_disease_location' some ('anal region' or ('part_of' some 'anal region')) 'Anal Squamous Cell Carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018515 'Anal Squamous Cell Carcinoma' SubClassOf 'squamous cell carcinoma' 'Anal Squamous Cell Carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003199 http://www.orpha.net/ORDO/Orphanet_1448 Ring chromosome 6 'Ring chromosome 6' SubClassOf 'Ring chromosome' 'Ring chromosome 6' SubClassOf 'Ring chromosome' http://www.orpha.net/ORDO/Orphanet_1449 Ring chromosome 7 'Ring chromosome 7' SubClassOf 'Ring chromosome' 'Ring chromosome 7' SubClassOf 'Ring chromosome' http://www.orpha.net/ORDO/Orphanet_2779 Osteopathia striata - pigmentary dermopathy - white forelock 'Osteopathia striata - pigmentary dermopathy - white forelock' SubClassOf 'Genetic hyperpigmentation of the skin' 'Osteopathia striata - pigmentary dermopathy - white forelock' SubClassOf 'Primary bone dysplasia with increased bone density' 'Osteopathia striata - pigmentary dermopathy - white forelock' SubClassOf 'Genetic hyperpigmentation of the skin' 'Osteopathia striata - pigmentary dermopathy - white forelock' SubClassOf 'Primary bone dysplasia with increased bone density' http://www.orpha.net/ORDO/Orphanet_1446 Ring chromosome 22 'Ring chromosome 22' SubClassOf 'Ring chromosome' 'Ring chromosome 22' SubClassOf 'Ring chromosome' http://www.orpha.net/ORDO/Orphanet_1447 Ring chromosome 4 'Ring chromosome 4' SubClassOf 'Ring chromosome' 'Ring chromosome 4' SubClassOf 'Ring chromosome' http://www.orpha.net/ORDO/Orphanet_2777 Osteomesopyknosis 'Osteomesopyknosis' SubClassOf 'Osteopetrosis' 'Osteomesopyknosis' SubClassOf 'Osteopetrosis' http://purl.obolibrary.org/obo/CHEBI_33527 ribonate 'ribonate' SubClassOf 'chemical entity' 'ribonate' SubClassOf 'chemical entity' http://www.ebi.ac.uk/efo/EFO_1000088 Appendix Adenocarcinoma 'Appendix Adenocarcinoma' SubClassOf 'adenocarcinoma' 'Appendix Adenocarcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003196 'Appendix Adenocarcinoma' SubClassOf 'cecum adenocarcinoma' 'Appendix Adenocarcinoma' SubClassOf 'adenocarcinoma' http://www.orpha.net/ORDO/Orphanet_1444 Ring chromosome 20 'Ring chromosome 20' SubClassOf 'Ring chromosome' 'Ring chromosome 20' SubClassOf 'Ring chromosome' 'Ring chromosome 20' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015652 http://www.orpha.net/ORDO/Orphanet_2776 Autosomal recessive distal osteolysis syndrome 'Autosomal recessive distal osteolysis syndrome' SubClassOf 'Primary osteolysis' 'Autosomal recessive distal osteolysis syndrome' SubClassOf 'Primary osteolysis' http://www.ebi.ac.uk/efo/EFO_1000089 Appendix Adenoma 'Appendix Adenoma' SubClassOf 'adenoma' 'Appendix Adenoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018511 'Appendix Adenoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000527 'Appendix Adenoma' SubClassOf 'adenoma' http://www.orpha.net/ORDO/Orphanet_1445 Ring chromosome 21 'Ring chromosome 21' SubClassOf 'Ring chromosome' 'Ring chromosome 21' SubClassOf 'Ring chromosome' http://www.ebi.ac.uk/efo/EFO_1000086 Angiomatous Meningioma 'Angiomatous Meningioma' SubClassOf 'Meningioma' 'Angiomatous Meningioma' SubClassOf 'has_disease_location' some ('meninx' or ('part_of' some 'meninx')) 'Angiomatous Meningioma' SubClassOf 'Meningioma' http://www.orpha.net/ORDO/Orphanet_1442 Ring chromosome 18 'Ring chromosome 18' SubClassOf 'Ring chromosome' 'Ring chromosome 18' SubClassOf 'Ring chromosome' http://www.orpha.net/ORDO/Orphanet_2774 Multicentric carpo-tarsal osteolysis with or without nephropathy 'Multicentric carpo-tarsal osteolysis with or without nephropathy' SubClassOf 'Syndromic renal or urinary tract malformation' 'Multicentric carpo-tarsal osteolysis with or without nephropathy' SubClassOf 'Primary osteolysis' 'Multicentric carpo-tarsal osteolysis with or without nephropathy' SubClassOf 'Syndromic renal or urinary tract malformation' 'Multicentric carpo-tarsal osteolysis with or without nephropathy' SubClassOf 'Primary osteolysis' http://www.ebi.ac.uk/efo/EFO_1000087 Angiomyxoma 'Angiomyxoma' SubClassOf 'neoplasm' 'Angiomyxoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044335 'Angiomyxoma' SubClassOf 'neoplasm' http://www.orpha.net/ORDO/Orphanet_1443 Ring chromosome 19 'Ring chromosome 19' SubClassOf 'Ring chromosome' 'Ring chromosome 19' SubClassOf 'Ring chromosome' http://www.orpha.net/ORDO/Orphanet_2773 Osteogenesis imperfecta - retinopathy - seizures - intellectual disability 'Osteogenesis imperfecta - retinopathy - seizures - intellectual disability' SubClassOf 'Primary bone dysplasia with decreased bone density' 'Osteogenesis imperfecta - retinopathy - seizures - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003608 'Osteogenesis imperfecta - retinopathy - seizures - intellectual disability' SubClassOf 'retinopathy' 'Osteogenesis imperfecta - retinopathy - seizures - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004884 'Osteogenesis imperfecta - retinopathy - seizures - intellectual disability' SubClassOf 'developmental disability' 'Osteogenesis imperfecta - retinopathy - seizures - intellectual disability' SubClassOf 'Osteogenesis imperfecta' http://www.orpha.net/ORDO/Orphanet_371064 Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' SubClassOf 'Syndromic neurometabolic disease with non-X-linked intellectual disability' 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' SubClassOf 'Syndromic neurometabolic disease with non-X-linked intellectual disability' 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' http://www.orpha.net/ORDO/Orphanet_1439 Ring chromosome 12 'Ring chromosome 12' SubClassOf 'Ring chromosome' 'Ring chromosome 12' SubClassOf 'Ring chromosome' http://www.orpha.net/ORDO/Orphanet_324713 Hereditary cerebral hemorrhage with amyloidosis, Italian type 'Hereditary cerebral hemorrhage with amyloidosis, Italian type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0011583 http://www.ebi.ac.uk/efo/EFO_1000095 Askin Tumor 'Askin Tumor' SubClassOf 'primitive neuroectodermal tumor' 'Askin Tumor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003274 'Askin Tumor' SubClassOf 'primitive neuroectodermal tumor' 'Askin Tumor' SubClassOf 'embryonal neoplasm' 'Askin Tumor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018271 http://www.orpha.net/ORDO/Orphanet_1451 CINCA syndrome 'CINCA syndrome' SubClassOf 'Cryopyrin-associated periodic syndrome' 'CINCA syndrome' SubClassOf 'Cryopyrin-associated periodic syndrome' 'CINCA syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017259 http://www.orpha.net/ORDO/Orphanet_2783 Autosomal dominant osteopetrosis type 1 'Autosomal dominant osteopetrosis type 1' SubClassOf 'Osteopetrosis' 'Autosomal dominant osteopetrosis type 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020645 http://purl.obolibrary.org/obo/CHEBI_21557 N-acetyl-L-methionine 'N-acetyl-L-methionine' SubClassOf 'acid' 'N-acetyl-L-methionine' SubClassOf 'acid' http://www.ebi.ac.uk/efo/EFO_1000096 Atrophy 'Atrophy' SubClassOf 'biological process' 'Atrophy' SubClassOf 'biological process' http://www.orpha.net/ORDO/Orphanet_1452 Cleidocranial dysplasia 'Cleidocranial dysplasia' SubClassOf 'Cleidocranial dysplasia and isolated cranial ossification defect' 'Cleidocranial dysplasia' SubClassOf 'osteochondrodysplasia' 'Cleidocranial dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020018 'Cleidocranial dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Cleidocranial dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020014 'Cleidocranial dysplasia' SubClassOf 'Cleidocranial dysplasia and isolated cranial ossification defect' http://www.ebi.ac.uk/efo/EFO_1000093 Appendix Villous Adenoma 'Appendix Villous Adenoma' SubClassOf 'adenoma' 'Appendix Villous Adenoma' SubClassOf 'Cecum Villous Adenoma' 'Appendix Villous Adenoma' SubClassOf 'Appendix Adenoma' 'Appendix Villous Adenoma' SubClassOf 'adenoma' http://www.orpha.net/ORDO/Orphanet_2781 Osteopetrosis 'Osteopetrosis' SubClassOf 'Primary bone dysplasia with increased bone density' 'Osteopetrosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0042973 'Osteopetrosis' SubClassOf 'Primary bone dysplasia with increased bone density' http://www.ebi.ac.uk/efo/EFO_1000094 Ascending Colon Neuroendocrine Tumor G1 'Ascending Colon Neuroendocrine Tumor G1' SubClassOf 'colonic neoplasm' 'Ascending Colon Neuroendocrine Tumor G1' SubClassOf 'carcinoid tumor' 'Ascending Colon Neuroendocrine Tumor G1' SubClassOf 'has_disease_location' some ('colon' or ('part_of' some 'colon')) 'Ascending Colon Neuroendocrine Tumor G1' SubClassOf 'colonic neoplasm' 'Ascending Colon Neuroendocrine Tumor G1' SubClassOf 'carcinoid tumor' 'Ascending Colon Neuroendocrine Tumor G1' SubClassOf 'Colon Neuroendocrine Tumor G1' http://www.orpha.net/ORDO/Orphanet_2780 Osteopathia striata - cranial sclerosis 'Osteopathia striata - cranial sclerosis' SubClassOf 'Osteopetrosis' 'Osteopathia striata - cranial sclerosis' SubClassOf 'Osteopetrosis' http://www.ebi.ac.uk/efo/EFO_1000091 Appendix Hyperplastic Polyp 'Appendix Hyperplastic Polyp' SubClassOf 'polyp' 'Appendix Hyperplastic Polyp' SubClassOf 'polyp' 'Appendix Hyperplastic Polyp' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021400 'Appendix Hyperplastic Polyp' SubClassOf 'has_disease_location' some ('vermiform appendix' or ('part_of' some 'vermiform appendix')) 'Appendix Hyperplastic Polyp' SubClassOf 'Hyperplastic Polyp' http://purl.obolibrary.org/obo/UBERON_0004801 cervix epithelium 'cervix epithelium' SubClassOf 'epithelium' 'cervix epithelium' SubClassOf 'part_of' some 'uterine cervix' 'cervix epithelium' SubClassOf 'part_of' some 'uterus' 'cervix epithelium' SubClassOf http://purl.obolibrary.org/obo/UBERON_0006955 'cervix epithelium' SubClassOf 'part_of' some 'fallopian tube' http://www.ebi.ac.uk/efo/EFO_1000092 Appendix Neuroendocrine Tumor G1 'Appendix Neuroendocrine Tumor G1' SubClassOf 'carcinoid tumor' 'Appendix Neuroendocrine Tumor G1' SubClassOf 'carcinoid tumor' 'Appendix Neuroendocrine Tumor G1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015066 'Appendix Neuroendocrine Tumor G1' SubClassOf 'Cecum Neuroendocrine Tumor G1' http://www.ebi.ac.uk/efo/EFO_1000090 Appendix Goblet Cell Carcinoid 'Appendix Goblet Cell Carcinoid' SubClassOf 'carcinoma' 'Appendix Goblet Cell Carcinoid' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003196 'Appendix Goblet Cell Carcinoid' SubClassOf 'carcinoma' 'Appendix Goblet Cell Carcinoid' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021659 http://www.orpha.net/ORDO/Orphanet_2789 Lateral meningocele syndrome 'Lateral meningocele syndrome' SubClassOf 'Malformation of the neurenteric canal, spinal cord and column' 'Lateral meningocele syndrome' SubClassOf 'Malformation of the neurenteric canal, spinal cord and column' 'Lateral meningocele syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 http://www.orpha.net/ORDO/Orphanet_1458 CODAS syndrome 'CODAS syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'CODAS syndrome' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'CODAS syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'CODAS syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'CODAS syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 http://www.orpha.net/ORDO/Orphanet_2788 Osteoporosis - pseudoglioma 'Osteoporosis - pseudoglioma' SubClassOf 'Congenital vitreoretinal dysplasia' 'Osteoporosis - pseudoglioma' SubClassOf 'Primary bone dysplasia with decreased bone density' 'Osteoporosis - pseudoglioma' SubClassOf 'Congenital vitreoretinal dysplasia' 'Osteoporosis - pseudoglioma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Osteoporosis - pseudoglioma' SubClassOf 'autosomal recessive disease' 'Osteoporosis - pseudoglioma' SubClassOf 'Primary bone dysplasia with decreased bone density' http://www.ebi.ac.uk/efo/EFO_1000099 Atypical Lipomatous Tumor 'Atypical Lipomatous Tumor' SubClassOf 'neoplasm' 'Atypical Lipomatous Tumor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021354 'Atypical Lipomatous Tumor' SubClassOf 'neoplasm' http://www.orpha.net/ORDO/Orphanet_2787 Osteoporosis - macrocephaly - blindness - joint hyperlaxity 'Osteoporosis - macrocephaly - blindness - joint hyperlaxity' SubClassOf 'Primary bone dysplasia with decreased bone density' 'Osteoporosis - macrocephaly - blindness - joint hyperlaxity' SubClassOf 'Primary bone dysplasia with decreased bone density' http://www.orpha.net/ORDO/Orphanet_2786 Osteoporosis - oculocutaneous hypopigmentation syndrome 'Osteoporosis - oculocutaneous hypopigmentation syndrome' SubClassOf 'Primary bone dysplasia with decreased bone density' 'Osteoporosis - oculocutaneous hypopigmentation syndrome' SubClassOf 'Primary bone dysplasia with decreased bone density' http://www.ebi.ac.uk/efo/EFO_1000097 Atypical Carcinoid Tumor 'Atypical Carcinoid Tumor' SubClassOf 'carcinoid tumor' 'Atypical Carcinoid Tumor' SubClassOf 'carcinoid tumor' http://www.orpha.net/ORDO/Orphanet_1453 Cleidorhizomelic syndrome 'Cleidorhizomelic syndrome' SubClassOf 'Mesomelic and rhizo-mesomelic dysplasia' 'Cleidorhizomelic syndrome' SubClassOf 'Mesomelic and rhizo-mesomelic dysplasia' http://www.orpha.net/ORDO/Orphanet_2785 Osteopetrosis with renal tubular acidosis 'Osteopetrosis with renal tubular acidosis' SubClassOf 'Primary renal tubular acidosis' 'Osteopetrosis with renal tubular acidosis' SubClassOf 'Osteopetrosis' 'Osteopetrosis with renal tubular acidosis' SubClassOf 'Autosomal recessive malignant osteopetrosis' 'Osteopetrosis with renal tubular acidosis' SubClassOf 'Primary renal tubular acidosis' http://www.ebi.ac.uk/efo/EFO_1000098 Atypical Endometrial Hyperplasia 'Atypical Endometrial Hyperplasia' SubClassOf 'hyperplasia' 'Atypical Endometrial Hyperplasia' SubClassOf 'female reproductive system disease' 'Atypical Endometrial Hyperplasia' SubClassOf 'has_disease_location' some ('endometrium' or ('part_of' some 'endometrium')) 'Atypical Endometrial Hyperplasia' SubClassOf 'hyperplasia' 'Atypical Endometrial Hyperplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000931 http://www.orpha.net/ORDO/Orphanet_1454 Joubert syndrome with hepatic defect 'Joubert syndrome with hepatic defect' SubClassOf 'Joubert syndrome and related disorders' 'Joubert syndrome with hepatic defect' SubClassOf 'Genetic syndrome with a cerebellar malformation as major feature' 'Joubert syndrome with hepatic defect' SubClassOf 'Genetic parenchymatous liver disease' 'Joubert syndrome with hepatic defect' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007 'Joubert syndrome with hepatic defect' SubClassOf 'Joubert syndrome and related disorders' http://www.orpha.net/ORDO/Orphanet_300751 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation 'Familial dilated cardiomyopathy with conduction defect due to LMNA mutation' SubClassOf 'Familial dilated cardiomyopathy' 'Familial dilated cardiomyopathy with conduction defect due to LMNA mutation' SubClassOf 'Familial isolated dilated cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_371054 X-linked congenital disorder of glycosylation with intellectual disability as a major feature 'X-linked congenital disorder of glycosylation with intellectual disability as a major feature' SubClassOf 'Syndromic neurometabolic disease with X-linked intellectual disability' 'X-linked congenital disorder of glycosylation with intellectual disability as a major feature' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 'X-linked congenital disorder of glycosylation with intellectual disability as a major feature' SubClassOf 'Syndromic neurometabolic disease with X-linked intellectual disability' 'X-linked congenital disorder of glycosylation with intellectual disability as a major feature' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' http://www.orpha.net/ORDO/Orphanet_324703 Hereditary cerebral hemorrhage with amyloidosis, Piedmont type 'Hereditary cerebral hemorrhage with amyloidosis, Piedmont type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0011583 http://purl.obolibrary.org/obo/CHEBI_21565 N-acetyl-L-valine 'N-acetyl-L-valine' SubClassOf 'chemical entity' 'N-acetyl-L-valine' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_2714 Oculo-palato-cerebral syndrome 'Oculo-palato-cerebral syndrome' SubClassOf 'Orofacial clefting syndrome' 'Oculo-palato-cerebral syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Oculo-palato-cerebral syndrome' SubClassOf 'Orofacial clefting syndrome' 'Oculo-palato-cerebral syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 'Oculo-palato-cerebral syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Oculo-palato-cerebral syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Oculo-palato-cerebral syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/CHEBI_34839 methoprene 'methoprene' SubClassOf 'has_role' some 'hormone role' http://www.orpha.net/ORDO/Orphanet_2713 Oculoosteocutaneous syndrome 'Oculoosteocutaneous syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Oculoosteocutaneous syndrome' SubClassOf 'Ectodermal dysplasia syndrome' http://www.orpha.net/ORDO/Orphanet_226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function 'Hypothyroidism due to deficient transcription factors involved in pituitary development or function' SubClassOf 'Central congenital hypothyroidism' 'Hypothyroidism due to deficient transcription factors involved in pituitary development or function' SubClassOf 'Central congenital hypothyroidism' http://www.orpha.net/ORDO/Orphanet_2712 Oculofaciocardiodental syndrome 'Oculofaciocardiodental syndrome' SubClassOf 'Rare disease with glaucoma as a major feature' 'Oculofaciocardiodental syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Oculofaciocardiodental syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Oculofaciocardiodental syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Oculofaciocardiodental syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Oculofaciocardiodental syndrome' SubClassOf 'Syndromic microphthalmia' 'Oculofaciocardiodental syndrome' SubClassOf 'Rare disease with glaucoma as a major feature' 'Oculofaciocardiodental syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Oculofaciocardiodental syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Oculofaciocardiodental syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Oculofaciocardiodental syndrome' SubClassOf 'Syndromic microphthalmia' http://www.orpha.net/ORDO/Orphanet_2710 Oculodentodigital dysplasia 'Oculodentodigital dysplasia' SubClassOf 'Ectodermal dysplasia syndrome' 'Oculodentodigital dysplasia' SubClassOf 'Primary bone dysplasia with increased bone density' 'Oculodentodigital dysplasia' SubClassOf 'Ectodermal malformation syndrome associated with ocular features' 'Oculodentodigital dysplasia' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Oculodentodigital dysplasia' SubClassOf 'Primary bone dysplasia with increased bone density' 'Oculodentodigital dysplasia' SubClassOf 'Ectodermal dysplasia syndrome' 'Oculodentodigital dysplasia' SubClassOf 'Ectodermal malformation syndrome associated with ocular features' 'Oculodentodigital dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 'Oculodentodigital dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007 'Oculodentodigital dysplasia' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' http://www.orpha.net/ORDO/Orphanet_216981 Niemann-Pick disease type C, juvenile neurologic onset 'Niemann-Pick disease type C, juvenile neurologic onset' SubClassOf 'Niemann-Pick disease type C' 'Niemann-Pick disease type C, juvenile neurologic onset' SubClassOf 'Niemann-Pick disease type C' http://www.orpha.net/ORDO/Orphanet_2709 Oculodental syndrome, Rutherfurd type 'Oculodental syndrome, Rutherfurd type' SubClassOf 'Syndromic corneal dystrophy' 'Oculodental syndrome, Rutherfurd type' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Oculodental syndrome, Rutherfurd type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Oculodental syndrome, Rutherfurd type' SubClassOf 'Syndromic corneal dystrophy' 'Oculodental syndrome, Rutherfurd type' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' http://www.orpha.net/ORDO/Orphanet_216986 Niemann-Pick disease type C, adult neurologic onset 'Niemann-Pick disease type C, adult neurologic onset' SubClassOf 'Niemann-Pick disease type C' 'Niemann-Pick disease type C, adult neurologic onset' SubClassOf 'Niemann-Pick disease type C' http://www.orpha.net/ORDO/Orphanet_2707 Oculocerebrofacial syndrome, Kaufman type 'Oculocerebrofacial syndrome, Kaufman type' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Oculocerebrofacial syndrome, Kaufman type' SubClassOf 'Syndromic developmental defect of the eye' 'Oculocerebrofacial syndrome, Kaufman type' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Oculocerebrofacial syndrome, Kaufman type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Oculocerebrofacial syndrome, Kaufman type' SubClassOf 'Syndromic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_2704 Ochoa syndrome 'Ochoa syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Ochoa syndrome' SubClassOf 'autosomal recessive disease' 'Ochoa syndrome' SubClassOf 'disease has feature' some 'Neurogenic bladder' 'Ochoa syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' http://purl.obolibrary.org/obo/HP_0003196 Short nose 'Short nose' SubClassOf 'abnormality of the nose' 'Short nose' SubClassOf 'abnormality of the nose' http://purl.obolibrary.org/obo/CHEBI_46819 urate salt 'urate salt' SubClassOf 'chemical entity' 'urate salt' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_2724 Odontomatosis - aortae esophagus stenosis 'Odontomatosis - aortae esophagus stenosis' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Odontomatosis - aortae esophagus stenosis' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' http://www.orpha.net/ORDO/Orphanet_2723 Odontotrichomelic syndrome 'Odontotrichomelic syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Odontotrichomelic syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Odontotrichomelic syndrome' SubClassOf 'Orofacial clefting syndrome' 'Odontotrichomelic syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 'Odontotrichomelic syndrome' SubClassOf 'GAPO syndrome' 'Odontotrichomelic syndrome' SubClassOf 'Orofacial clefting syndrome' http://www.orpha.net/ORDO/Orphanet_2722 Odonto-onycho dysplasia - alopecia 'Odonto-onycho dysplasia - alopecia' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Odonto-onycho dysplasia - alopecia' SubClassOf 'Ectodermal dysplasia syndrome' 'Odonto-onycho dysplasia - alopecia' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Odonto-onycho dysplasia - alopecia' SubClassOf 'Ectodermal dysplasia syndrome' http://www.orpha.net/ORDO/Orphanet_2721 Odonto-onycho-dermal dysplasia 'Odonto-onycho-dermal dysplasia' SubClassOf 'Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature' 'Odonto-onycho-dermal dysplasia' SubClassOf 'Ectodermal dysplasia syndrome' 'Odonto-onycho-dermal dysplasia' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Odonto-onycho-dermal dysplasia' SubClassOf 'Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature' 'Odonto-onycho-dermal dysplasia' SubClassOf 'Ectodermal dysplasia syndrome' 'Odonto-onycho-dermal dysplasia' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' http://www.orpha.net/ORDO/Orphanet_2719 Oculocerebral hypopigmentation syndrome, Cross type 'Oculocerebral hypopigmentation syndrome, Cross type' SubClassOf 'Syndromic oculocutaneous albinism' 'Oculocerebral hypopigmentation syndrome, Cross type' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Oculocerebral hypopigmentation syndrome, Cross type' SubClassOf 'Syndromic oculocutaneous albinism' 'Oculocerebral hypopigmentation syndrome, Cross type' SubClassOf 'Developmental anomaly of metabolic origin' 'Oculocerebral hypopigmentation syndrome, Cross type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Oculocerebral hypopigmentation syndrome, Cross type' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' http://www.orpha.net/ORDO/Orphanet_216975 Niemann-Pick disease type C, severe early infantile neurologic onset 'Niemann-Pick disease type C, severe early infantile neurologic onset' SubClassOf 'Niemann-Pick disease type C' 'Niemann-Pick disease type C, severe early infantile neurologic onset' SubClassOf 'Niemann-Pick disease type C' http://www.orpha.net/ORDO/Orphanet_2718 Oculotrichodysplasia 'Oculotrichodysplasia' SubClassOf 'Ectodermal dysplasia syndrome' 'Oculotrichodysplasia' SubClassOf 'Syndromic retinitis pigmentosa' 'Oculotrichodysplasia' SubClassOf 'Ectodermal dysplasia syndrome' 'Oculotrichodysplasia' SubClassOf 'Syndromic retinitis pigmentosa' 'Oculotrichodysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 http://www.orpha.net/ORDO/Orphanet_2717 Oculotrichoanal syndrome 'Oculotrichoanal syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007 http://www.orpha.net/ORDO/Orphanet_2716 Oculo-skeletal-renal syndrome 'Oculo-skeletal-renal syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Oculo-skeletal-renal syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' http://www.orpha.net/ORDO/Orphanet_216972 Niemann-Pick disease type C, severe perinatal form 'Niemann-Pick disease type C, severe perinatal form' SubClassOf 'Niemann-Pick disease type C' 'Niemann-Pick disease type C, severe perinatal form' SubClassOf 'Niemann-Pick disease type C' http://www.orpha.net/ORDO/Orphanet_216978 Niemann-Pick disease type C, late infantile neurologic onset 'Niemann-Pick disease type C, late infantile neurologic onset' SubClassOf 'Niemann-Pick disease type C' 'Niemann-Pick disease type C, late infantile neurologic onset' SubClassOf 'Niemann-Pick disease type C' http://purl.obolibrary.org/obo/CHEBI_46828 quinolinate(1-) 'quinolinate(1-)' SubClassOf 'chemical entity' 'quinolinate(1-)' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_371071 Congenital disorder of glycosylation with epilepsy as a major feature 'Congenital disorder of glycosylation with epilepsy as a major feature' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 'Congenital disorder of glycosylation with epilepsy as a major feature' EquivalentTo 'Congenital disorder of glycosylation' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'epilepsy') 'Congenital disorder of glycosylation with epilepsy as a major feature' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015656 'Congenital disorder of glycosylation with epilepsy as a major feature' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' http://www.orpha.net/ORDO/Orphanet_2736 Lethal omphalocele-cleft palate syndrome 'Lethal omphalocele-cleft palate syndrome' SubClassOf 'Orofacial clefting syndrome' 'Lethal omphalocele-cleft palate syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Lethal omphalocele-cleft palate syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015216 'Lethal omphalocele-cleft palate syndrome' SubClassOf 'Orofacial clefting syndrome' 'Lethal omphalocele-cleft palate syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 'Lethal omphalocele-cleft palate syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Lethal omphalocele-cleft palate syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Lethal omphalocele-cleft palate syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 http://www.orpha.net/ORDO/Orphanet_33364 Trichothiodystrophy 'Trichothiodystrophy' SubClassOf 'Ectodermal dysplasia syndrome' 'Trichothiodystrophy' SubClassOf 'Syndromic hair shaft abnormality' 'Trichothiodystrophy' SubClassOf 'Male infertility due to sperm disorder' 'Trichothiodystrophy' SubClassOf 'Ectodermal dysplasia syndrome' 'Trichothiodystrophy' SubClassOf 'Syndromic hair shaft abnormality' 'Trichothiodystrophy' SubClassOf 'Autosomal ichthyosis syndrome with prominent hair abnormalities' 'Trichothiodystrophy' SubClassOf 'Male infertility due to sperm disorder' http://www.orpha.net/ORDO/Orphanet_2733 Omodysplasia 'Omodysplasia' SubClassOf 'Mesomelic and rhizo-mesomelic dysplasia' 'Omodysplasia' SubClassOf 'Mesomelic and rhizo-mesomelic dysplasia' http://www.orpha.net/ORDO/Orphanet_2732 Olivopontocerebellar atrophy - deafness 'Olivopontocerebellar atrophy - deafness' SubClassOf 'Syndromic genetic deafness' 'Olivopontocerebellar atrophy - deafness' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_2731 Taurodontia - absent teeth - sparse hair 'Taurodontia - absent teeth - sparse hair' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Taurodontia - absent teeth - sparse hair' SubClassOf 'Ectodermal dysplasia syndrome' 'Taurodontia - absent teeth - sparse hair' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Taurodontia - absent teeth - sparse hair' SubClassOf 'Ectodermal dysplasia syndrome' http://www.orpha.net/ORDO/Orphanet_2730 Postaxial tetramelic oligodactyly 'Postaxial tetramelic oligodactyly' SubClassOf 'Genetic syndrome with limb reduction defects' 'Postaxial tetramelic oligodactyly' SubClassOf 'Genetic syndrome with limb reduction defects' 'Postaxial tetramelic oligodactyly' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' http://www.orpha.net/ORDO/Orphanet_397695 3q27.3 microdeletion syndrome '3q27.3 microdeletion syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '3q27.3 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 3' '3q27.3 microdeletion syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '3q27.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 '3q27.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 '3q27.3 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 3' http://www.orpha.net/ORDO/Orphanet_2729 Okamoto syndrome 'Okamoto syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Okamoto syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Okamoto syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Okamoto syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_2728 Blepharophimosis-intellectual disability syndrome, Ohdo type 'Blepharophimosis-intellectual disability syndrome, Ohdo type' SubClassOf 'Blepharophimosis-intellectual disability syndrome' 'Blepharophimosis-intellectual disability syndrome, Ohdo type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000734 http://www.orpha.net/ORDO/Orphanet_397692 Hereditary isolated aplastic anemia 'Hereditary isolated aplastic anemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001713 http://www.orpha.net/ORDO/Orphanet_226310 Peripheral hypothyroidism 'Peripheral hypothyroidism' SubClassOf 'Permanent congenital hypothyroidism' 'Peripheral hypothyroidism' SubClassOf 'Permanent congenital hypothyroidism' http://www.orpha.net/ORDO/Orphanet_226316 Genetic transient congenital hypothyroidism 'Genetic transient congenital hypothyroidism' SubClassOf 'Congenital hypothyroidism' 'Genetic transient congenital hypothyroidism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003847 'Genetic transient congenital hypothyroidism' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0015792 and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) 'Genetic transient congenital hypothyroidism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016556 http://www.orpha.net/ORDO/Orphanet_33355 Reticular dysgenesis 'Reticular dysgenesis' SubClassOf 'T-B- severe combined immunodeficiency' 'Reticular dysgenesis' SubClassOf 'T-B- severe combined immunodeficiency' http://www.orpha.net/ORDO/Orphanet_2746 Opsismodysplasia 'Opsismodysplasia' SubClassOf 'Spondylodysplastic dysplasia' 'Opsismodysplasia' SubClassOf 'Spondylodysplastic dysplasia' http://www.orpha.net/ORDO/Orphanet_2745 Opitz G/BBB syndrome 'Opitz G/BBB syndrome' SubClassOf 'Syndromic anorectal malformation' 'Opitz G/BBB syndrome' SubClassOf 'Syndromic urogenital tract malformation' 'Opitz G/BBB syndrome' SubClassOf 'Telecanthus' 'Opitz G/BBB syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Opitz G/BBB syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015222 'Opitz G/BBB syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Opitz G/BBB syndrome' SubClassOf 'Syndromic anorectal malformation' 'Opitz G/BBB syndrome' SubClassOf 'Syndromic urogenital tract malformation' 'Opitz G/BBB syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000275 'Opitz G/BBB syndrome' SubClassOf 'Telecanthus' 'Opitz G/BBB syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_1414 Cholestasis-lymphedema syndrome 'Cholestasis-lymphedema syndrome' SubClassOf 'Syndromic lymphedema' 'Cholestasis-lymphedema syndrome' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Cholestasis-lymphedema syndrome' SubClassOf 'Syndromic lymphedema' 'Cholestasis-lymphedema syndrome' SubClassOf 'liver disease' 'Cholestasis-lymphedema syndrome' SubClassOf 'Milroy disease' 'Cholestasis-lymphedema syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018722 http://www.orpha.net/ORDO/Orphanet_2744 Horizontal gaze palsy with progressive scoliosis 'Horizontal gaze palsy with progressive scoliosis' SubClassOf 'Genetic syndrome with a central nervous system malformation as major feature' 'Horizontal gaze palsy with progressive scoliosis' SubClassOf 'Syndrome with a symptomatic strabismus' 'Horizontal gaze palsy with progressive scoliosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017120 'Horizontal gaze palsy with progressive scoliosis' SubClassOf 'Syndrome with a symptomatic strabismus' http://www.orpha.net/ORDO/Orphanet_2743 Ophthalmoplegia - intellectual disability - lingua scrotalis 'Ophthalmoplegia - intellectual disability - lingua scrotalis' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Ophthalmoplegia - intellectual disability - lingua scrotalis' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Ophthalmoplegia - intellectual disability - lingua scrotalis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Ophthalmoplegia - intellectual disability - lingua scrotalis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 http://www.orpha.net/ORDO/Orphanet_1412 Tarsal-carpal coalition syndrome 'Tarsal-carpal coalition syndrome' SubClassOf 'Syndrome with synostosis or other joint formation defect' 'Tarsal-carpal coalition syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 'Tarsal-carpal coalition syndrome' SubClassOf 'Syndrome with synostosis or other joint formation defect' http://www.orpha.net/ORDO/Orphanet_2741 Ophthalmomandibulomelic dysplasia 'Ophthalmomandibulomelic dysplasia' SubClassOf 'Syndromic corneal dystrophy' 'Ophthalmomandibulomelic dysplasia' SubClassOf 'Syndromic developmental defect of the eye' 'Ophthalmomandibulomelic dysplasia' SubClassOf 'Syndromic corneal dystrophy' 'Ophthalmomandibulomelic dysplasia' SubClassOf 'Syndromic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_1410 Uncombable hair syndrome 'Uncombable hair syndrome' SubClassOf 'Isolated hair shaft abnormality' 'Uncombable hair syndrome' SubClassOf 'Isolated hair shaft abnormality' http://www.orpha.net/ORDO/Orphanet_1408 Hair defect - photosensitivity - intellectual disability 'Hair defect - photosensitivity - intellectual disability' SubClassOf 'Syndromic hair shaft abnormality' 'Hair defect - photosensitivity - intellectual disability' SubClassOf 'Syndromic hair shaft abnormality' 'Hair defect - photosensitivity - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 http://www.orpha.net/ORDO/Orphanet_1409 Woolly hair - hypotrichosis - everted lower lip - outstanding ears 'Woolly hair - hypotrichosis - everted lower lip - outstanding ears' SubClassOf 'Syndromic hair shaft abnormality' 'Woolly hair - hypotrichosis - everted lower lip - outstanding ears' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018558 http://www.orpha.net/ORDO/Orphanet_1406 Charlie M syndrome 'Charlie M syndrome' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Charlie M syndrome' SubClassOf 'Oromandibular-limb hypogenesis syndrome' 'Charlie M syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Charlie M syndrome' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Charlie M syndrome' SubClassOf 'Oromandibular-limb hypogenesis syndrome' 'Charlie M syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.ebi.ac.uk/efo/EFO_0000810 obsolete_fat body sensu invertebrata 'obsolete_fat body sensu invertebrata' SubClassOf 'obsolete class' 'obsolete_fat body sensu invertebrata' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_86909 Myoclonic epilepsy of infancy 'Myoclonic epilepsy of infancy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100022 http://www.orpha.net/ORDO/Orphanet_86906 Hypothalamic hamartomas with gelastic seizures 'Hypothalamic hamartomas with gelastic seizures' SubClassOf 'Cerebral malformation with epilepsy' 'Hypothalamic hamartomas with gelastic seizures' SubClassOf 'Cerebral malformation with epilepsy' http://purl.obolibrary.org/obo/UBERON_0012249 ectocervix 'ectocervix' SubClassOf 'part_of' some 'uterine cervix' 'ectocervix' SubClassOf 'proximal_to' some 'vagina' 'ectocervix' SubClassOf 'distalmost_part_of' some 'uterine cervix' http://www.ebi.ac.uk/efo/EFO_0000813 obsolete_white fat 'obsolete_white fat' SubClassOf 'obsolete class' 'obsolete_white fat' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000814 obsolete_artery 'obsolete_artery' SubClassOf 'obsolete class' 'obsolete_artery' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000815 obsolete_heart 'obsolete_heart' SubClassOf 'obsolete class' 'obsolete_heart' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000816 obsolete_vein 'obsolete_vein' SubClassOf 'obsolete class' 'obsolete_vein' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000817 obsolete_blood vessel 'obsolete_blood vessel' SubClassOf 'obsolete class' 'obsolete_blood vessel' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000818 obsolete_carotid artery 'obsolete_carotid artery' SubClassOf 'obsolete class' 'obsolete_carotid artery' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000819 obsolete_myocardium 'obsolete_myocardium' SubClassOf 'obsolete class' 'obsolete_myocardium' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98908 Neutral lipid storage myopathy 'Neutral lipid storage myopathy' SubClassOf 'Neutral lipid storage disease' 'Neutral lipid storage myopathy' SubClassOf 'Neutral lipid storage disease' http://www.orpha.net/ORDO/Orphanet_98907 Dorfman-Chanarin disease 'Dorfman-Chanarin disease' SubClassOf 'Syndromic ichthyosis associated with ocular features' 'Dorfman-Chanarin disease' SubClassOf 'Neutral lipid storage disease' 'Dorfman-Chanarin disease' SubClassOf 'Autosomal ichthyosis syndrome with other associated signs' 'Dorfman-Chanarin disease' SubClassOf 'Syndromic ichthyosis associated with ocular features' 'Dorfman-Chanarin disease' SubClassOf 'Neutral lipid storage disease' 'Dorfman-Chanarin disease' SubClassOf 'Rare syndromic dyslipidemia' 'Dorfman-Chanarin disease' SubClassOf 'Autosomal ichthyosis syndrome with other associated signs' http://www.orpha.net/ORDO/Orphanet_98909 Desminopathy 'Desminopathy' SubClassOf 'Neuromuscular disease with dilated cardiomyopathy' 'Desminopathy' SubClassOf 'Autosomal dominant distal myopathy' 'Desminopathy' SubClassOf 'Qualitative or quantitative defects of desmin' 'Desminopathy' SubClassOf 'Familial restrictive cardiomyopathy' 'Desminopathy' SubClassOf 'Inclusion myopathy' 'Desminopathy' SubClassOf 'Myofibrillar myopathy' 'Desminopathy' SubClassOf 'Qualitative or quantitative defects of desmin' 'Desminopathy' SubClassOf 'Neuromuscular disease with dilated cardiomyopathy' 'Desminopathy' SubClassOf 'Autosomal dominant distal myopathy' 'Desminopathy' SubClassOf 'Familial restrictive cardiomyopathy' 'Desminopathy' SubClassOf 'Inclusion myopathy' 'Desminopathy' SubClassOf 'Myofibrillar myopathy' http://www.orpha.net/ORDO/Orphanet_178506 Brain calcification, Rajab type 'Brain calcification, Rajab type' SubClassOf 'Rare genetic neurological disorder' 'Brain calcification, Rajab type' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_178509 Perry syndrome 'Perry syndrome' SubClassOf 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' 'Perry syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Perry syndrome' SubClassOf 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_59305 Gestational trophoblastic neoplasm 'Gestational trophoblastic neoplasm' SubClassOf 'urogenital neoplasm' 'Gestational trophoblastic neoplasm' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002872 'Gestational trophoblastic neoplasm' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016784 'Gestational trophoblastic neoplasm' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0002872 and http://purl.obolibrary.org/obo/MONDO_0016784 http://www.orpha.net/ORDO/Orphanet_98902 Amish nemaline myopathy 'Amish nemaline myopathy' SubClassOf 'Qualitative or quantitative defects of troponin' 'Amish nemaline myopathy' SubClassOf 'Nemaline myopathy' 'Amish nemaline myopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018701 'Amish nemaline myopathy' SubClassOf 'Qualitative or quantitative defects of troponin' 'Amish nemaline myopathy' SubClassOf 'Nemaline myopathy' http://www.orpha.net/ORDO/Orphanet_98904 Congenital myopathy with excess of thin filaments 'Congenital myopathy with excess of thin filaments' SubClassOf 'Qualitative or quantitative defects of alpha-actin' 'Congenital myopathy with excess of thin filaments' SubClassOf 'Congenital myopathy' 'Congenital myopathy with excess of thin filaments' SubClassOf 'Qualitative or quantitative defects of alpha-actin' 'Congenital myopathy with excess of thin filaments' SubClassOf 'Congenital myopathy' http://www.orpha.net/ORDO/Orphanet_59306 McLeod neuroacanthocytosis syndrome 'McLeod neuroacanthocytosis syndrome' SubClassOf 'Neurometabolic disease' 'McLeod neuroacanthocytosis syndrome' SubClassOf 'Neuroacanthocytosis' 'McLeod neuroacanthocytosis syndrome' SubClassOf 'Constitutional hemolytic anemia due to acanthocytosis' 'McLeod neuroacanthocytosis syndrome' SubClassOf 'Syndrome associated with dilated cardiomyopathy' 'McLeod neuroacanthocytosis syndrome' SubClassOf 'Neurometabolic disease' 'McLeod neuroacanthocytosis syndrome' SubClassOf 'Neuroacanthocytosis' 'McLeod neuroacanthocytosis syndrome' SubClassOf 'Constitutional hemolytic anemia due to acanthocytosis' 'McLeod neuroacanthocytosis syndrome' SubClassOf 'Syndrome associated with dilated cardiomyopathy' 'McLeod neuroacanthocytosis syndrome' SubClassOf 'Metabolic disease with dementia' 'McLeod neuroacanthocytosis syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016406 http://www.orpha.net/ORDO/Orphanet_98905 Congenital multicore myopathy with external ophthalmoplegia 'Congenital multicore myopathy with external ophthalmoplegia' SubClassOf 'Multiminicore myopathy' 'Congenital multicore myopathy with external ophthalmoplegia' SubClassOf 'Multiminicore myopathy' http://www.ebi.ac.uk/efo/EFO_0000800 obsolete_liver and biliary system 'obsolete_liver and biliary system' SubClassOf 'obsolete class' 'obsolete_liver and biliary system' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000801 obsolete_muscular system 'obsolete_muscular system' SubClassOf 'obsolete class' 'obsolete_muscular system' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000802 obsolete_nervous system 'obsolete_nervous system' SubClassOf 'obsolete class' 'obsolete_nervous system' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000803 obsolete_renal system 'obsolete_renal system' SubClassOf 'obsolete class' 'obsolete_renal system' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000804 obsolete_respiratory system structure 'obsolete_respiratory system structure' SubClassOf 'obsolete class' 'obsolete_respiratory system structure' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_48652 Monosomy 22q13 'Monosomy 22q13' SubClassOf 'Partial deletion of the long arm of chromosome 22' 'Monosomy 22q13' SubClassOf 'Partial deletion of the long arm of chromosome 22' http://www.ebi.ac.uk/efo/EFO_0000805 obsolete_sensory system 'obsolete_sensory system' SubClassOf 'obsolete class' 'obsolete_sensory system' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000806 obsolete_skeletal system 'obsolete_skeletal system' SubClassOf 'obsolete class' 'obsolete_skeletal system' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000807 obsolete_integumental system 'obsolete_integumental system' SubClassOf 'obsolete class' 'obsolete_integumental system' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/UBERON_0001597 masseter muscle 'masseter muscle' SubClassOf 'muscle of head' 'masseter muscle' SubClassOf 'develops_from' some 'pharyngeal arch' 'masseter muscle' SubClassOf http://purl.obolibrary.org/obo/UBERON_0003681 http://www.ebi.ac.uk/efo/EFO_0000809 obsolete_animal reproductive system 'obsolete_animal reproductive system' SubClassOf 'obsolete class' 'obsolete_animal reproductive system' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_117573 Syndromic anorectal malformation 'Syndromic anorectal malformation' SubClassOf 'Anorectal malformation' 'Syndromic anorectal malformation' EquivalentTo 'Anorectal malformation' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021127) 'Syndromic anorectal malformation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Syndromic anorectal malformation' SubClassOf 'Anorectal malformation' http://purl.obolibrary.org/obo/OBI_0000070 assay 'assay' SubClassOf 'has_participant' some 'instrument' http://www.orpha.net/ORDO/Orphanet_98911 Distal myotilinopathy 'Distal myotilinopathy' SubClassOf 'Autosomal dominant distal myopathy' 'Distal myotilinopathy' SubClassOf 'Qualitative or quantitative defects of myotilin' 'Distal myotilinopathy' SubClassOf 'Myofibrillar myopathy' 'Distal myotilinopathy' SubClassOf 'Autosomal dominant distal myopathy' 'Distal myotilinopathy' SubClassOf 'Qualitative or quantitative defects of myotilin' 'Distal myotilinopathy' SubClassOf 'Myofibrillar myopathy' http://www.orpha.net/ORDO/Orphanet_98910 Alpha-crystallinopathy 'Alpha-crystallinopathy' SubClassOf 'Qualitative or quantitative defects of alphaB-cristallin' 'Alpha-crystallinopathy' SubClassOf 'Myofibrillar myopathy' 'Alpha-crystallinopathy' SubClassOf 'Qualitative or quantitative defects of alphaB-cristallin' 'Alpha-crystallinopathy' SubClassOf 'Myofibrillar myopathy' http://www.orpha.net/ORDO/Orphanet_98913 Postsynaptic congenital myasthenic syndromes 'Postsynaptic congenital myasthenic syndromes' SubClassOf 'Congenital myasthenic syndromes' 'Postsynaptic congenital myasthenic syndromes' SubClassOf 'Congenital myasthenic syndromes' http://www.orpha.net/ORDO/Orphanet_98912 Late-onset distal myopathy, Markesbery-Griggs type 'Late-onset distal myopathy, Markesbery-Griggs type' SubClassOf 'Myofibrillar myopathy' 'Late-onset distal myopathy, Markesbery-Griggs type' SubClassOf 'Qualitative or quantitative defects of protein ZASP' 'Late-onset distal myopathy, Markesbery-Griggs type' SubClassOf 'Autosomal dominant distal myopathy' 'Late-onset distal myopathy, Markesbery-Griggs type' SubClassOf 'Myofibrillar myopathy' 'Late-onset distal myopathy, Markesbery-Griggs type' SubClassOf 'Qualitative or quantitative defects of protein ZASP' 'Late-onset distal myopathy, Markesbery-Griggs type' SubClassOf 'Autosomal dominant distal myopathy' http://www.orpha.net/ORDO/Orphanet_98915 Synaptic congenital myasthenic syndromes 'Synaptic congenital myasthenic syndromes' SubClassOf 'Congenital myasthenic syndromes' 'Synaptic congenital myasthenic syndromes' SubClassOf 'Congenital myasthenic syndromes' http://www.orpha.net/ORDO/Orphanet_98914 Presynaptic congenital myasthenic syndromes 'Presynaptic congenital myasthenic syndromes' SubClassOf 'Congenital myasthenic syndromes' 'Presynaptic congenital myasthenic syndromes' SubClassOf 'Congenital myasthenic syndromes' http://www.ebi.ac.uk/efo/EFO_0000830 obsolete_taste system 'obsolete_taste system' SubClassOf 'obsolete class' 'obsolete_taste system' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000831 obsolete_cranium 'obsolete_cranium' SubClassOf 'obsolete class' 'obsolete_cranium' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000832 obsolete_retina structure 'obsolete_retina structure' SubClassOf 'obsolete class' 'obsolete_retina structure' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000833 obsolete_tongue 'obsolete_tongue' SubClassOf 'obsolete class' 'obsolete_tongue' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000834 obsolete_intestine 'obsolete_intestine' SubClassOf 'obsolete class' 'obsolete_intestine' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000835 obsolete_esophagus 'obsolete_esophagus' SubClassOf 'obsolete class' 'obsolete_esophagus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000836 obsolete_pharynx structure 'obsolete_pharynx structure' SubClassOf 'obsolete class' 'obsolete_pharynx structure' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000837 obsolete_stomach 'obsolete_stomach' SubClassOf 'obsolete class' 'obsolete_stomach' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000838 obsolete_larynx 'obsolete_larynx' SubClassOf 'obsolete class' 'obsolete_larynx' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98920 Spinal muscular atrophy with respiratory distress type 1 'Spinal muscular atrophy with respiratory distress type 1' SubClassOf 'Autosomal recessive distal hereditary motor neuropathy' 'Spinal muscular atrophy with respiratory distress type 1' SubClassOf 'spinal muscular atrophy' 'Spinal muscular atrophy with respiratory distress type 1' SubClassOf 'Autosomal recessive distal hereditary motor neuropathy' http://www.ebi.ac.uk/efo/EFO_0000839 obsolete_tooth 'obsolete_tooth' SubClassOf 'obsolete class' 'obsolete_tooth' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_155889 Coloboma of inferior eyelid 'Coloboma of inferior eyelid' SubClassOf 'Oblique facial cleft' 'Coloboma of inferior eyelid' SubClassOf 'Oblique facial cleft' http://www.orpha.net/ORDO/Orphanet_155884 Coloboma of superior eyelid 'Coloboma of superior eyelid' SubClassOf 'Oblique facial cleft' 'Coloboma of superior eyelid' SubClassOf 'Oblique facial cleft' http://www.ebi.ac.uk/efo/EFO_1001105 pigmented spindle cell nevus 'pigmented spindle cell nevus' SubClassOf 'nevus' 'pigmented spindle cell nevus' SubClassOf 'melanocytic nevus' 'pigmented spindle cell nevus' SubClassOf 'nevus' http://www.orpha.net/ORDO/Orphanet_50944 Schöpf-Schulz-Passarge syndrome 'Schöpf-Schulz-Passarge syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Schöpf-Schulz-Passarge syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Schöpf-Schulz-Passarge syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Schöpf-Schulz-Passarge syndrome' SubClassOf 'Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature' 'Schöpf-Schulz-Passarge syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Schöpf-Schulz-Passarge syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Schöpf-Schulz-Passarge syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Schöpf-Schulz-Passarge syndrome' SubClassOf 'Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature' http://www.ebi.ac.uk/efo/EFO_1001104 phimosis 'phimosis' SubClassOf 'male reproductive system disease' 'phimosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002036 'phimosis' SubClassOf 'reproductive system disease' 'phimosis' SubClassOf 'has_disease_location' some ('penis' or ('part_of' some 'penis')) http://www.orpha.net/ORDO/Orphanet_50943 Keratolytic winter erythema 'Keratolytic winter erythema' SubClassOf 'Other genetic epidermal disease' 'Keratolytic winter erythema' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019274 'Keratolytic winter erythema' SubClassOf 'Other genetic epidermal disease' http://www.ebi.ac.uk/efo/EFO_1001103 persistent fetal circulation syndrome 'persistent fetal circulation syndrome' SubClassOf 'pulmonary arterial hypertension' 'persistent fetal circulation syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024239 'persistent fetal circulation syndrome' SubClassOf 'pulmonary arterial hypertension' http://www.ebi.ac.uk/efo/EFO_1001102 peroneal nerve paralysis 'peroneal nerve paralysis' SubClassOf 'peripheral nervous system disease' 'peroneal nerve paralysis' SubClassOf 'peripheral nervous system disease' 'peroneal nerve paralysis' SubClassOf 'has_disease_location' some ('fibular nerve' or ('part_of' some 'fibular nerve')) http://www.orpha.net/ORDO/Orphanet_50945 Blomstrand lethal chondrodysplasia 'Blomstrand lethal chondrodysplasia' SubClassOf 'Neonatal osteosclerotic dysplasia' 'Blomstrand lethal chondrodysplasia' SubClassOf 'Neonatal osteosclerotic dysplasia' http://www.ebi.ac.uk/efo/EFO_1001101 periventricular leukomalacia 'periventricular leukomalacia' SubClassOf 'brain disease' 'periventricular leukomalacia' SubClassOf 'encephalomalacia' 'periventricular leukomalacia' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'periventricular leukomalacia' SubClassOf 'brain disease' http://www.ebi.ac.uk/efo/EFO_1001100 peritoneal neoplasm 'peritoneal neoplasm' SubClassOf 'neoplasm' 'peritoneal neoplasm' SubClassOf 'neoplasm' 'peritoneal neoplasm' SubClassOf 'has_disease_location' some ('peritoneum' or ('part_of' some 'peritoneum')) http://www.ebi.ac.uk/efo/EFO_0000820 obsolete_pericardium 'obsolete_pericardium' SubClassOf 'obsolete class' 'obsolete_pericardium' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000821 obsolete_endocardium 'obsolete_endocardium' SubClassOf 'obsolete class' 'obsolete_endocardium' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000825 obsolete_mouth structure 'obsolete_mouth structure' SubClassOf 'obsolete class' 'obsolete_mouth structure' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001109 pituitary dwarfism 'pituitary dwarfism' SubClassOf 'adrenal gland disease' 'pituitary dwarfism' SubClassOf 'adrenal gland disease' 'pituitary dwarfism' SubClassOf 'has_disease_location' some ('pituitary gland' or ('part_of' some 'pituitary gland')) http://www.ebi.ac.uk/efo/EFO_0000826 obsolete_ear 'obsolete_ear' SubClassOf 'obsolete class' 'obsolete_ear' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001108 pituitary apoplexy 'pituitary apoplexy' SubClassOf 'central nervous system disease' 'pituitary apoplexy' SubClassOf 'hypopituitarism' 'pituitary apoplexy' SubClassOf 'has_disease_location' some ('pituitary gland' or ('part_of' some 'pituitary gland')) 'pituitary apoplexy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019832 'pituitary apoplexy' SubClassOf 'hypopituitarism' 'pituitary apoplexy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001259 http://www.ebi.ac.uk/efo/EFO_0000827 obsolete_eye structure 'obsolete_eye structure' SubClassOf 'obsolete class' 'obsolete_eye structure' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001107 pilar sheath acanthoma 'pilar sheath acanthoma' SubClassOf 'neoplasm' 'pilar sheath acanthoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002093 'pilar sheath acanthoma' SubClassOf 'neoplasm' http://www.ebi.ac.uk/efo/EFO_0000828 obsolete_nose structure 'obsolete_nose structure' SubClassOf 'obsolete class' 'obsolete_nose structure' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001106 pigmented villonodular synovitis 'pigmented villonodular synovitis' SubClassOf 'has_disease_location' some ('knee' or ('part_of' some 'knee')) 'neoplasm' DisjointWith 'pigmented villonodular synovitis' 'pigmented villonodular synovitis' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Tenosynovial Giant Cell Tumor' DisjointWith 'pigmented villonodular synovitis' 'pigmented villonodular synovitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002400 http://purl.obolibrary.org/obo/OBI_0000018 material supplier role 'material supplier role' SubClassOf 'inheres_in' some ('Homo sapiens' and 'organization') http://www.ebi.ac.uk/efo/EFO_1001116 polyradiculoneuropathy 'polyradiculoneuropathy' SubClassOf 'polyneuropathy' 'polyradiculoneuropathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002562 'polyradiculoneuropathy' SubClassOf 'polyneuropathy' http://www.ebi.ac.uk/efo/EFO_1001115 POEMS syndrome 'POEMS syndrome' SubClassOf 'immune system disease' 'POEMS syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016180 'POEMS syndrome' SubClassOf 'disease has feature' some 'plasma cell neoplasm' 'POEMS syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004805 'POEMS syndrome' SubClassOf 'immune system disease' 'POEMS syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016178 'POEMS syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'POEMS syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016169 http://www.ebi.ac.uk/efo/EFO_1001114 pneumococcal meningitis 'pneumococcal meningitis' SubClassOf 'bacterial meningitis' 'pneumococcal meningitis' SubClassOf 'pneumococcal infection' 'pneumococcal meningitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015659 'pneumococcal meningitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001316 'pneumococcal meningitis' SubClassOf 'bacterial meningitis' http://www.ebi.ac.uk/efo/EFO_1001113 pneumatosis cystoides intestinalis 'pneumatosis cystoides intestinalis' SubClassOf 'digestive system disease' 'pneumatosis cystoides intestinalis' SubClassOf 'has_disease_location' some ('intestine' or ('part_of' some 'intestine')) 'pneumatosis cystoides intestinalis' SubClassOf 'intestinal disease' 'pneumatosis cystoides intestinalis' SubClassOf 'digestive system disease' http://www.ebi.ac.uk/efo/EFO_0000850 obsolete_caecum 'obsolete_caecum' SubClassOf 'obsolete class' 'obsolete_caecum' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001112 platelet storage pool deficiency 'platelet storage pool deficiency' SubClassOf 'hematologic disease' 'platelet storage pool deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018795 'platelet storage pool deficiency' SubClassOf 'hematologic disease' 'platelet storage pool deficiency' SubClassOf 'has_disease_location' some 'platelet' http://www.ebi.ac.uk/efo/EFO_0000851 obsolete_duodenum 'obsolete_duodenum' SubClassOf 'obsolete class' 'obsolete_duodenum' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001111 placental site trophoblastic tumor 'placental site trophoblastic tumor' SubClassOf 'choriocarcinoma' 'placental site trophoblastic tumor' SubClassOf 'Gestational trophoblastic neoplasm' 'placental site trophoblastic tumor' SubClassOf 'choriocarcinoma' http://www.ebi.ac.uk/efo/EFO_0000852 obsolete_adrenal medulla 'obsolete_adrenal medulla' SubClassOf 'obsolete class' 'obsolete_adrenal medulla' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001110 pituitary-dependent Cushing's disease 'pituitary-dependent Cushing's disease' SubClassOf 'Cushing syndrome' 'pituitary-dependent Cushing's disease' SubClassOf 'central nervous system disease' 'pituitary-dependent Cushing's disease' SubClassOf 'hyperpituitarism' 'pituitary-dependent Cushing's disease' SubClassOf 'Cushing syndrome' 'pituitary-dependent Cushing's disease' SubClassOf 'has_disease_location' some ('pituitary gland' or ('part_of' some 'pituitary gland')) http://purl.obolibrary.org/obo/MONDO_0020529 DisjointWith 'pituitary-dependent Cushing's disease' http://www.ebi.ac.uk/efo/EFO_0000853 obsolete_gall bladder 'obsolete_gall bladder' SubClassOf 'obsolete class' 'obsolete_gall bladder' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000854 obsolete_mammary gland 'obsolete_mammary gland' SubClassOf 'obsolete class' 'obsolete_mammary gland' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000855 obsolete_pancreas 'obsolete_pancreas' SubClassOf 'obsolete class' 'obsolete_pancreas' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000856 obsolete_islet of Langerhans 'obsolete_islet of Langerhans' SubClassOf 'obsolete class' 'obsolete_islet of Langerhans' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000857 obsolete_pituitary 'obsolete_pituitary' SubClassOf 'obsolete class' 'obsolete_pituitary' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000858 obsolete_prostate 'obsolete_prostate' SubClassOf 'obsolete class' 'obsolete_prostate' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000859 obsolete_salivary gland 'obsolete_salivary gland' SubClassOf 'obsolete class' 'obsolete_salivary gland' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001119 posterior uveitis 'posterior uveitis' SubClassOf 'panuveitis' 'posterior uveitis' SubClassOf 'panuveitis' 'posterior uveitis' SubClassOf 'uveitis' 'posterior uveitis' SubClassOf 'has_disease_location' some ('eye' or ('part_of' some 'eye')) http://www.ebi.ac.uk/efo/EFO_1001118 posterior cerebral artery infarction 'posterior cerebral artery infarction' SubClassOf 'cerebrovascular disorder' 'posterior cerebral artery infarction' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002679 'posterior cerebral artery infarction' SubClassOf 'cerebral arterial disease' 'posterior cerebral artery infarction' SubClassOf 'cerebrovascular disorder' http://www.ebi.ac.uk/efo/EFO_1001117 postcholecystectomy syndrome 'postcholecystectomy syndrome' SubClassOf 'bladder disease' 'postcholecystectomy syndrome' SubClassOf 'biliary tract disease' 'postcholecystectomy syndrome' SubClassOf 'has_disease_location' some ('biliary system' or ('part_of' some 'biliary system')) 'postcholecystectomy syndrome' SubClassOf 'bladder disease' 'postcholecystectomy syndrome' SubClassOf 'biliary tract disease' http://purl.obolibrary.org/obo/UBERON_0001540 peroneal artery 'peroneal artery' SubClassOf 'artery' 'peroneal artery' SubClassOf http://purl.obolibrary.org/obo/UBERON_0035292 http://www.ebi.ac.uk/efo/EFO_1001127 primary Haemophilus infectious disease 'primary Haemophilus infectious disease' SubClassOf 'bacterial disease' 'primary Haemophilus infectious disease' SubClassOf 'bacterial disease' http://www.ebi.ac.uk/efo/EFO_1001126 primary Fusobacteriaceae infectious disease 'primary Fusobacteriaceae infectious disease' SubClassOf 'bacterial disease' 'primary Fusobacteriaceae infectious disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021678 'primary Fusobacteriaceae infectious disease' SubClassOf 'bacterial disease' http://www.ebi.ac.uk/efo/EFO_1001125 primary Bartonellaceae infectious disease 'primary Bartonellaceae infectious disease' SubClassOf 'bacterial disease' 'primary Bartonellaceae infectious disease' SubClassOf 'bacterial disease' 'primary Bartonellaceae infectious disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021678 http://www.ebi.ac.uk/efo/EFO_1001124 primary Bacillaceae infectious disease 'primary Bacillaceae infectious disease' SubClassOf 'bacterial disease' 'primary Bacillaceae infectious disease' SubClassOf 'bacterial disease' 'primary Bacillaceae infectious disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021679 http://www.ebi.ac.uk/efo/EFO_1001123 primary Anaplasmataceae infectious disease 'primary Anaplasmataceae infectious disease' SubClassOf 'bacterial disease' 'primary Anaplasmataceae infectious disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021678 'primary Anaplasmataceae infectious disease' SubClassOf 'Rickettsiaceae infectious disease' 'primary Anaplasmataceae infectious disease' SubClassOf 'rickettsiosis' 'primary Anaplasmataceae infectious disease' SubClassOf 'bacterial disease' http://www.ebi.ac.uk/efo/EFO_0000840 obsolete_large intestine 'obsolete_large intestine' SubClassOf 'obsolete class' 'obsolete_large intestine' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001122 primary Actinomycetales infectious disease 'primary Actinomycetales infectious disease' SubClassOf 'bacterial disease' 'primary Actinomycetales infectious disease' SubClassOf 'bacterial disease' 'primary Actinomycetales infectious disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024389 'primary Actinomycetales infectious disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021679 http://www.ebi.ac.uk/efo/EFO_0000841 obsolete_small intestine 'obsolete_small intestine' SubClassOf 'obsolete class' 'obsolete_small intestine' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001121 prediabetes syndrome 'prediabetes syndrome' SubClassOf 'diabetes mellitus' 'prediabetes syndrome' SubClassOf 'diabetes mellitus' http://www.ebi.ac.uk/efo/EFO_1001120 potassium deficiency 'potassium deficiency' SubClassOf 'nutritional deficiency disease' 'potassium deficiency' SubClassOf 'nutritional deficiency disease' http://www.ebi.ac.uk/efo/EFO_0000843 obsolete_ascending colon 'obsolete_ascending colon' SubClassOf 'obsolete class' 'obsolete_ascending colon' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000844 obsolete_transverse colon 'obsolete_transverse colon' SubClassOf 'obsolete class' 'obsolete_transverse colon' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000845 obsolete_descending colon 'obsolete_descending colon' SubClassOf 'obsolete class' 'obsolete_descending colon' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000846 obsolete_sigmoid colon 'obsolete_sigmoid colon' SubClassOf 'obsolete class' 'obsolete_sigmoid colon' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000847 obsolete_anal region 'obsolete_anal region' SubClassOf 'obsolete class' 'obsolete_anal region' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000848 obsolete_rectum 'obsolete_rectum' SubClassOf 'obsolete class' 'obsolete_rectum' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000849 obsolete_appendix 'obsolete_appendix' SubClassOf 'obsolete class' 'obsolete_appendix' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001129 proliferative vitreoretinopathy 'proliferative vitreoretinopathy' SubClassOf 'Vitreoretinopathy' 'proliferative vitreoretinopathy' SubClassOf 'Vitreoretinopathy' 'proliferative vitreoretinopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004860 http://www.ebi.ac.uk/efo/EFO_1001128 Rickettsiaceae infectious disease 'Rickettsiaceae infectious disease' SubClassOf 'bacterial disease' 'Rickettsiaceae infectious disease' SubClassOf 'bacterial disease' 'Rickettsiaceae infectious disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021678 http://purl.obolibrary.org/obo/NCBITaxon_362338 Hirschmanniella oryzae 'Hirschmanniella oryzae' SubClassOf 'Nematoda' 'Hirschmanniella oryzae' SubClassOf 'Nematoda' http://www.ebi.ac.uk/efo/EFO_1001130 Proteus infectious disease 'Proteus infectious disease' SubClassOf 'bacterial disease' 'Proteus infectious disease' SubClassOf 'bacterial disease' http://www.ebi.ac.uk/efo/EFO_0009203 Carboxyhemoglobin to Total Hemoglobin Ratio Measurement 'Carboxyhemoglobin to Total Hemoglobin Ratio Measurement' SubClassOf 'hemoglobin measurement' 'Carboxyhemoglobin to Total Hemoglobin Ratio Measurement' SubClassOf 'hemoglobin measurement' http://www.ebi.ac.uk/efo/EFO_0009204 Corpuscular Hemoglobin Concentration Distribution Width 'Corpuscular Hemoglobin Concentration Distribution Width' SubClassOf 'hemoglobin measurement' 'Corpuscular Hemoglobin Concentration Distribution Width' SubClassOf 'hemoglobin measurement' http://www.ebi.ac.uk/efo/EFO_0009205 Corpuscular Hemoglobin Content 'Corpuscular Hemoglobin Content' SubClassOf 'hemoglobin measurement' 'Corpuscular Hemoglobin Content' SubClassOf 'hemoglobin measurement' http://www.ebi.ac.uk/efo/EFO_0009200 Eisenmenger syndrome 'Eisenmenger syndrome' SubClassOf 'Pulmonary arterial hypertension associated with congenital heart disease' 'Eisenmenger syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Eisenmenger syndrome' SubClassOf 'Pulmonary arterial hypertension associated with congenital heart disease' http://www.ebi.ac.uk/efo/EFO_0009201 myopic macular degeneration 'myopic macular degeneration' SubClassOf 'eye disease' 'myopic macular degeneration' SubClassOf 'Genetic vitreous-retinal disease' 'myopic macular degeneration' SubClassOf 'has_disease_location' some ('eye' or ('part_of' some 'eye')) 'myopic macular degeneration' SubClassOf 'eye disease' http://www.ebi.ac.uk/efo/EFO_1001138 pulmonary valve stenosis 'pulmonary valve stenosis' SubClassOf 'pulmonary valve disease' 'pulmonary valve stenosis' SubClassOf 'pulmonary valve disease' http://www.ebi.ac.uk/efo/EFO_1001137 pulmonary subvalvular stenosis 'pulmonary subvalvular stenosis' SubClassOf 'pulmonary valve disease' 'pulmonary subvalvular stenosis' SubClassOf 'pulmonary valve stenosis' 'pulmonary subvalvular stenosis' SubClassOf 'pulmonary valve disease' http://www.ebi.ac.uk/efo/EFO_0000870 obsolete_lymphatic system 'obsolete_lymphatic system' SubClassOf 'obsolete class' 'obsolete_lymphatic system' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001136 obsolete_pulmonary sclerosing hemangioma 'obsolete_pulmonary sclerosing hemangioma' SubClassOf 'obsolete class' 'obsolete_pulmonary sclerosing hemangioma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000871 obsolete_lymph 'obsolete_lymph' SubClassOf 'obsolete class' 'obsolete_lymph' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001135 pulmonary plasma cell granuloma 'pulmonary plasma cell granuloma' SubClassOf 'lung disease' 'pulmonary plasma cell granuloma' SubClassOf 'lung disease' http://purl.obolibrary.org/obo/GO_0072718 response to cisplatin 'response to cisplatin' SubClassOf 'is_about' some 'cisplatin' http://www.ebi.ac.uk/efo/EFO_0000872 obsolete_lymph node 'obsolete_lymph node' SubClassOf 'obsolete class' 'obsolete_lymph node' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0009206 Free Hemoglobin Measurement 'Free Hemoglobin Measurement' SubClassOf 'hemoglobin measurement' 'Free Hemoglobin Measurement' SubClassOf 'hemoglobin measurement' http://www.ebi.ac.uk/efo/EFO_1001134 pulmonary edema 'pulmonary edema' SubClassOf 'respiratory system disease' 'pulmonary edema' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001208 'pulmonary edema' SubClassOf 'respiratory system disease' http://www.ebi.ac.uk/efo/EFO_0000873 obsolete_lymph vessel 'obsolete_lymph vessel' SubClassOf 'obsolete class' 'obsolete_lymph vessel' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0009207 Glycosylated Hemoglobin Measurement 'Glycosylated Hemoglobin Measurement' SubClassOf 'hemoglobin measurement' 'Glycosylated Hemoglobin Measurement' SubClassOf 'hemoglobin measurement' http://www.ebi.ac.uk/efo/EFO_1001133 pulmonary coin lesion 'pulmonary coin lesion' SubClassOf 'benign neoplasm' 'pulmonary coin lesion' SubClassOf 'lung disease' 'pulmonary coin lesion' SubClassOf 'has_disease_location' some ('lung' or ('part_of' some 'lung')) 'pulmonary coin lesion' SubClassOf 'benign neoplasm' 'pulmonary coin lesion' SubClassOf 'lung disease' http://www.ebi.ac.uk/efo/EFO_0000874 obsolete_antenna 'obsolete_antenna' SubClassOf 'obsolete class' 'obsolete_antenna' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0009208 Hemoglobin A Measurement 'Hemoglobin A Measurement' SubClassOf 'hemoglobin measurement' 'Hemoglobin A Measurement' SubClassOf 'hemoglobin measurement' http://www.ebi.ac.uk/efo/EFO_1001132 pseudotumor cerebri 'pseudotumor cerebri' SubClassOf 'intracranial hypertension' 'pseudotumor cerebri' SubClassOf 'intracranial hypertension' 'pseudotumor cerebri' SubClassOf 'cerebrovascular disorder' http://www.ebi.ac.uk/efo/EFO_0000875 obsolete_fin 'obsolete_fin' SubClassOf 'obsolete class' 'obsolete_fin' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0009209 Hemoglobin A to Total Hemoglobin Ratio Measurement 'Hemoglobin A to Total Hemoglobin Ratio Measurement' SubClassOf 'hemoglobin measurement' 'Hemoglobin A to Total Hemoglobin Ratio Measurement' SubClassOf 'hemoglobin measurement' http://www.ebi.ac.uk/efo/EFO_1001131 pseudobulbar palsy 'pseudobulbar palsy' SubClassOf 'brain disease' 'pseudobulbar palsy' SubClassOf 'central nervous system disease' 'pseudobulbar palsy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003569 'pseudobulbar palsy' SubClassOf 'brain disease' 'pseudobulbar palsy' SubClassOf 'has_disease_location' some ('motor neuron' or ('part_of' some 'motor neuron')) http://www.ebi.ac.uk/efo/EFO_0000876 obsolete_vertebrate limb 'obsolete_vertebrate limb' SubClassOf 'obsolete class' 'obsolete_vertebrate limb' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000877 obsolete_autopod 'obsolete_autopod' SubClassOf 'obsolete class' 'obsolete_autopod' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000878 obsolete_zeugopod 'obsolete_zeugopod' SubClassOf 'obsolete class' 'obsolete_zeugopod' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000879 obsolete_stylopod 'obsolete_stylopod' SubClassOf 'obsolete class' 'obsolete_stylopod' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001139 pulpitis 'pulpitis' SubClassOf 'bacterial disease' 'pulpitis' SubClassOf 'dental pulp disease' 'pulpitis' SubClassOf 'bacterial disease' 'pulpitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021166 'pulpitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043424 'pulpitis' SubClassOf 'dental pulp disease' http://www.orpha.net/ORDO/Orphanet_86923 Hereditary palmoplantar keratoderma, Gamborg-Nielsen type 'Hereditary palmoplantar keratoderma, Gamborg-Nielsen type' SubClassOf 'Autosomal recessive isolated diffuse palmoplantar keratoderma' 'Hereditary palmoplantar keratoderma, Gamborg-Nielsen type' SubClassOf 'Autosomal recessive isolated diffuse palmoplantar keratoderma' http://www.orpha.net/ORDO/Orphanet_86920 Dermatopathia pigmentosa reticularis 'Dermatopathia pigmentosa reticularis' SubClassOf 'Genetic hyperpigmentation of the skin' 'Dermatopathia pigmentosa reticularis' SubClassOf 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' 'Dermatopathia pigmentosa reticularis' SubClassOf 'Ectodermal dysplasia syndrome' 'Dermatopathia pigmentosa reticularis' SubClassOf 'Genetic hyperpigmentation of the skin' 'Dermatopathia pigmentosa reticularis' SubClassOf 'Ectodermal dysplasia syndrome' 'Dermatopathia pigmentosa reticularis' SubClassOf 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' http://www.ebi.ac.uk/efo/EFO_1001141 pyelonephritis 'pyelonephritis' SubClassOf 'kidney disease' 'pyelonephritis' SubClassOf 'uterine inflammatory disease' 'pyelonephritis' SubClassOf 'kidney disease' 'pyelonephritis' SubClassOf 'urinary tract infection' 'pyelonephritis' SubClassOf 'pyelitis' http://www.ebi.ac.uk/efo/EFO_1001140 pyelitis 'pyelitis' SubClassOf 'kidney disease' 'pyelitis' SubClassOf 'participates_in' some 'inflammatory response' 'pyelitis' SubClassOf 'nephritis' 'pyelitis' SubClassOf 'kidney disease' http://www.ebi.ac.uk/efo/EFO_1001149 renal aminoaciduria 'renal aminoaciduria' SubClassOf 'kidney disease' 'renal aminoaciduria' SubClassOf 'kidney disease' http://www.ebi.ac.uk/efo/EFO_1001148 relapsing polychondritis 'relapsing polychondritis' SubClassOf 'cartilage disease' 'relapsing polychondritis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019724 'relapsing polychondritis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002342 'relapsing polychondritis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015939 'relapsing polychondritis' SubClassOf 'cartilage disease' 'relapsing polychondritis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000589 http://www.ebi.ac.uk/efo/EFO_1001147 reflex sympathetic dystrophy 'reflex sympathetic dystrophy' SubClassOf 'complex regional pain syndrome' 'reflex sympathetic dystrophy' SubClassOf 'has_disease_location' some ('sympathetic nervous system' or ('part_of' some 'sympathetic nervous system')) 'reflex sympathetic dystrophy' SubClassOf 'complex regional pain syndrome' 'reflex sympathetic dystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 http://www.ebi.ac.uk/efo/EFO_0000860 obsolete_thymus 'obsolete_thymus' SubClassOf 'obsolete class' 'obsolete_thymus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001146 reflex epilepsy 'reflex epilepsy' SubClassOf 'epilepsy' 'reflex epilepsy' SubClassOf 'epilepsy' 'reflex epilepsy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100036 http://www.ebi.ac.uk/efo/EFO_0000861 obsolete_thyroid 'obsolete_thyroid' SubClassOf 'obsolete class' 'obsolete_thyroid' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001145 Raynaud disease 'Raynaud disease' SubClassOf 'peripheral vascular disease' 'Raynaud disease' SubClassOf 'peripheral vascular disease' 'Raynaud disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003847 http://www.ebi.ac.uk/efo/EFO_1001144 rat-bite fever 'rat-bite fever' SubClassOf 'bacterial disease' 'rat-bite fever' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'rat-bite fever' SubClassOf 'bacterial disease' http://www.ebi.ac.uk/efo/EFO_0000863 obsolete_hatching gland 'obsolete_hatching gland' SubClassOf 'obsolete class' 'obsolete_hatching gland' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001143 radial nerve lesion 'radial nerve lesion' SubClassOf 'mononeuropathy' 'radial nerve lesion' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024334 'radial nerve lesion' SubClassOf 'brachial plexus neuritis' 'radial nerve lesion' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003607 'radial nerve lesion' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001459 'radial nerve lesion' SubClassOf 'mononeuropathy' http://www.ebi.ac.uk/efo/EFO_0000864 obsolete_neurohemal organ 'obsolete_neurohemal organ' SubClassOf 'obsolete class' 'obsolete_neurohemal organ' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001142 pyruvate carboxylase deficiency disease 'pyruvate carboxylase deficiency disease' SubClassOf 'Disorder of carbohydrate metabolism' 'pyruvate carboxylase deficiency disease' SubClassOf 'Gluconeogenesis disorder' http://www.ebi.ac.uk/efo/EFO_0000865 obsolete_pineal gland 'obsolete_pineal gland' SubClassOf 'obsolete class' 'obsolete_pineal gland' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_86919 Keratosis palmaris et plantaris - clinodactyly 'Keratosis palmaris et plantaris - clinodactyly' SubClassOf 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' 'Keratosis palmaris et plantaris - clinodactyly' SubClassOf 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' http://www.ebi.ac.uk/efo/EFO_0000867 obsolete_meninges 'obsolete_meninges' SubClassOf 'obsolete class' 'obsolete_meninges' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_86917 Lymphedema - cleft palate 'Lymphedema - cleft palate' SubClassOf http://purl.obolibrary.org/obo/MONDO_0009332 'Lymphedema - cleft palate' SubClassOf 'Milroy disease' http://www.ebi.ac.uk/efo/EFO_0000868 obsolete_bone marrow 'obsolete_bone marrow' SubClassOf 'obsolete class' 'obsolete_bone marrow' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_86918 Diffuse palmoplantar keratoderma-acrocyanosis syndrome 'Diffuse palmoplantar keratoderma-acrocyanosis syndrome' SubClassOf 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' 'Diffuse palmoplantar keratoderma-acrocyanosis syndrome' SubClassOf 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' http://www.ebi.ac.uk/efo/EFO_0000869 obsolete_spleen 'obsolete_spleen' SubClassOf 'obsolete class' 'obsolete_spleen' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_86915 Lymphedema - atrial septal defects - facial changes 'Lymphedema - atrial septal defects - facial changes' SubClassOf 'Syndromic lymphedema' 'Lymphedema - atrial septal defects - facial changes' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018722 'Lymphedema - atrial septal defects - facial changes' SubClassOf 'Syndromic lymphedema' http://www.orpha.net/ORDO/Orphanet_86913 Myoclonic epilepsy in non-progressive encephalopathies 'Myoclonic epilepsy in non-progressive encephalopathies' SubClassOf 'Infantile epilepsy syndrome' 'Myoclonic epilepsy in non-progressive encephalopathies' SubClassOf 'Infantile epilepsy syndrome' http://www.orpha.net/ORDO/Orphanet_86914 Lymphedema - cerebral arteriovenous anomaly 'Lymphedema - cerebral arteriovenous anomaly' SubClassOf 'Syndromic lymphedema' 'Lymphedema - cerebral arteriovenous anomaly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016235 'Lymphedema - cerebral arteriovenous anomaly' SubClassOf 'Syndromic lymphedema' http://purl.obolibrary.org/obo/CLO_0016567 GM17745 'GM17745' SubClassOf 'cultured cell' 'GM17745' SubClassOf 'has_quality' some 'female' 'GM17745' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0009224 Hemoglobin S to Total Hemoglobin Ratio Measurement 'Hemoglobin S to Total Hemoglobin Ratio Measurement' SubClassOf 'hemoglobin measurement' 'Hemoglobin S to Total Hemoglobin Ratio Measurement' SubClassOf 'hemoglobin measurement' http://purl.obolibrary.org/obo/CLO_0016566 GM17746 'GM17746' SubClassOf 'has_quality' some 'female' 'GM17746' SubClassOf 'cultured cell' 'GM17746' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0009225 Hemoglobin Tetramer Measurement 'Hemoglobin Tetramer Measurement' SubClassOf 'hemoglobin measurement' 'Hemoglobin Tetramer Measurement' SubClassOf 'hemoglobin measurement' http://www.orpha.net/ORDO/Orphanet_2199 Epidermolytic palmoplantar keratoderma 'Epidermolytic palmoplantar keratoderma' SubClassOf 'Autosomal dominant isolated diffuse palmoplantar keratoderma' 'Epidermolytic palmoplantar keratoderma' SubClassOf 'Autosomal dominant isolated diffuse palmoplantar keratoderma' http://www.ebi.ac.uk/efo/EFO_0009226 Methemoglobin to Total Hemoglobin Ratio Measurement 'Methemoglobin to Total Hemoglobin Ratio Measurement' SubClassOf 'hemoglobin measurement' 'Methemoglobin to Total Hemoglobin Ratio Measurement' SubClassOf 'hemoglobin measurement' http://www.orpha.net/ORDO/Orphanet_2198 Palmoplantar keratoderma-esophageal carcinoma syndrome 'Palmoplantar keratoderma-esophageal carcinoma syndrome' SubClassOf 'Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature' 'Palmoplantar keratoderma-esophageal carcinoma syndrome' SubClassOf 'Genetic gastro-esophageal disease' 'Palmoplantar keratoderma-esophageal carcinoma syndrome' SubClassOf 'Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature' 'Palmoplantar keratoderma-esophageal carcinoma syndrome' SubClassOf 'Genetic gastro-esophageal disease' http://purl.obolibrary.org/obo/CLO_0016568 GM17744 'GM17744' SubClassOf 'cultured cell' 'GM17744' SubClassOf 'has_quality' some 'female' 'GM17744' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0009227 Oxyhemoglobin to Total Hemoglobin Ratio Measurement 'Oxyhemoglobin to Total Hemoglobin Ratio Measurement' SubClassOf 'hemoglobin measurement' 'Oxyhemoglobin to Total Hemoglobin Ratio Measurement' SubClassOf 'hemoglobin measurement' http://www.orpha.net/ORDO/Orphanet_248095 Primary hypertrophic osteoarthropathy 'Primary hypertrophic osteoarthropathy' SubClassOf 'Primary bone dysplasia with increased bone density' 'Primary hypertrophic osteoarthropathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Primary hypertrophic osteoarthropathy' SubClassOf 'Primary bone dysplasia with increased bone density' http://www.orpha.net/ORDO/Orphanet_2197 Idiopathic hypercalciuria 'Idiopathic hypercalciuria' SubClassOf 'Genetic renal tubular disease' 'Idiopathic hypercalciuria' SubClassOf 'Genetic renal tubular disease' 'Idiopathic hypercalciuria' SubClassOf 'Inborn errors of metabolism' 'Idiopathic hypercalciuria' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019744 'Idiopathic hypercalciuria' SubClassOf 'participates_in' some 'calcium ion homeostasis' http://www.ebi.ac.uk/efo/EFO_0009220 Hemoglobin G Coushatta to Total Hemoglobin Ratio Measurement 'Hemoglobin G Coushatta to Total Hemoglobin Ratio Measurement' SubClassOf 'hemoglobin measurement' 'Hemoglobin G Coushatta to Total Hemoglobin Ratio Measurement' SubClassOf 'hemoglobin measurement' http://www.ebi.ac.uk/efo/EFO_0009221 Hemoglobin Lepore to Total Hemoglobin Ratio Measurement 'Hemoglobin Lepore to Total Hemoglobin Ratio Measurement' SubClassOf 'hemoglobin measurement' 'Hemoglobin Lepore to Total Hemoglobin Ratio Measurement' SubClassOf 'hemoglobin measurement' http://www.orpha.net/ORDO/Orphanet_2195 Dicarboxylic aminoaciduria 'Dicarboxylic aminoaciduria' SubClassOf 'Disorder of amino acid absorption and transport' 'Dicarboxylic aminoaciduria' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004736 'Dicarboxylic aminoaciduria' SubClassOf 'Disorder of amino acid absorption and transport' http://www.ebi.ac.uk/efo/EFO_0009222 Hemoglobin O-Arab to Total Hemoglobin Ratio Measurement 'Hemoglobin O-Arab to Total Hemoglobin Ratio Measurement' SubClassOf 'hemoglobin measurement' 'Hemoglobin O-Arab to Total Hemoglobin Ratio Measurement' SubClassOf 'hemoglobin measurement' http://www.ebi.ac.uk/efo/EFO_0009223 Hemoglobin S Measurement 'Hemoglobin S Measurement' SubClassOf 'hemoglobin measurement' 'Hemoglobin S Measurement' SubClassOf 'hemoglobin measurement' http://www.orpha.net/ORDO/Orphanet_98977 Juvenile glaucoma 'Juvenile glaucoma' SubClassOf 'Primary glaucoma' 'Juvenile glaucoma' SubClassOf 'Primary glaucoma' 'Juvenile glaucoma' SubClassOf 'open-angle glaucoma' http://www.ebi.ac.uk/efo/EFO_0000891 obsolete_peripheral nervous system 'obsolete_peripheral nervous system' SubClassOf 'obsolete class' 'obsolete_peripheral nervous system' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98976 Congenital glaucoma 'Congenital glaucoma' SubClassOf 'Primary glaucoma' 'Congenital glaucoma' SubClassOf 'Primary glaucoma' http://purl.obolibrary.org/obo/CLO_0016561 GM17752 'GM17752' SubClassOf 'cultured cell' 'GM17752' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17752' SubClassOf 'has_quality' some 'female' http://www.orpha.net/ORDO/Orphanet_98979 Chandler syndrome 'Chandler syndrome' SubClassOf 'Iridocorneal endothelial syndrome' 'Chandler syndrome' SubClassOf 'Iridocorneal endothelial syndrome' 'Chandler syndrome' SubClassOf 'Syndromic corneal dystrophy' http://purl.obolibrary.org/obo/CLO_0016560 GM17753 'GM17753' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17753' SubClassOf 'cultured cell' 'GM17753' SubClassOf 'has_quality' some 'male' http://www.ebi.ac.uk/efo/EFO_0000893 obsolete_sympathetic nervous system 'obsolete_sympathetic nervous system' SubClassOf 'obsolete class' 'obsolete_sympathetic nervous system' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98978 Axenfeld anomaly 'Axenfeld anomaly' SubClassOf 'Goniodysgenesis' 'Axenfeld anomaly' SubClassOf 'Goniodysgenesis' http://purl.obolibrary.org/obo/HP_0003549 Abnormality of connective tissue 'Abnormality of connective tissue' EquivalentTo 'has part' some ('quality' and ('has component' some 'abnormal') and ('inheres in part of' some 'connective tissue')) http://www.ebi.ac.uk/efo/EFO_0000894 obsolete_parasympathetic nervous system 'obsolete_parasympathetic nervous system' SubClassOf 'obsolete class' 'obsolete_parasympathetic nervous system' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0009228 Reticulocyte Corpuscular Hemoglobin Concentration Mean 'Reticulocyte Corpuscular Hemoglobin Concentration Mean' SubClassOf 'hemoglobin measurement' 'Reticulocyte Corpuscular Hemoglobin Concentration Mean' SubClassOf 'hemoglobin measurement' http://www.ebi.ac.uk/efo/EFO_0000895 obsolete_enteric nervous system 'obsolete_enteric nervous system' SubClassOf 'obsolete class' 'obsolete_enteric nervous system' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0009229 Reticulocyte Corpuscular Hemoglobin Content 'Reticulocyte Corpuscular Hemoglobin Content' SubClassOf 'hemoglobin measurement' 'Reticulocyte Corpuscular Hemoglobin Content' SubClassOf 'hemoglobin measurement' http://purl.obolibrary.org/obo/CLO_0016565 GM17747 'GM17747' SubClassOf 'has_quality' some 'female' 'GM17747' SubClassOf 'cultured cell' 'GM17747' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0000896 obsolete_ventral nerve cord 'obsolete_ventral nerve cord' SubClassOf 'obsolete class' 'obsolete_ventral nerve cord' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/CLO_0016564 GM17749 'GM17749' SubClassOf 'has_quality' some 'male' 'GM17749' SubClassOf 'cultured cell' 'GM17749' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0000898 obsolete_somatic nervous system 'obsolete_somatic nervous system' SubClassOf 'obsolete class' 'obsolete_somatic nervous system' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98980 Cogan-Reese syndrome 'Cogan-Reese syndrome' SubClassOf 'Iridocorneal endothelial syndrome' 'Cogan-Reese syndrome' SubClassOf 'Iridocorneal endothelial syndrome' http://www.ebi.ac.uk/efo/EFO_0000899 obsolete_ganglion 'obsolete_ganglion' SubClassOf 'obsolete class' 'obsolete_ganglion' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98981 Essential iris atrophy 'Essential iris atrophy' SubClassOf 'Iridocorneal endothelial syndrome' 'Essential iris atrophy' SubClassOf 'Iridocorneal endothelial syndrome' http://www.orpha.net/ORDO/Orphanet_96321 Polyploidy 'Polyploidy' SubClassOf 'Chromosomal anomaly' 'Polyploidy' SubClassOf 'Chromosomal anomaly' http://www.orpha.net/ORDO/Orphanet_98984 Pulverulent cataract 'Pulverulent cataract' SubClassOf 'Early-onset non-syndromic cataract' http://www.orpha.net/ORDO/Orphanet_98985 Cataract with Y-shaped suture opacities 'Cataract with Y-shaped suture opacities' SubClassOf 'Non-syndromic congenital cataract' 'Cataract with Y-shaped suture opacities' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020379 http://www.orpha.net/ORDO/Orphanet_2190 Congenital hydronephrosis 'Congenital hydronephrosis' SubClassOf 'Genetic non-syndromic renal or urinary tract malformation' 'Congenital hydronephrosis' SubClassOf 'hydronephrosis' 'Congenital hydronephrosis' SubClassOf 'Genetic non-syndromic renal or urinary tract malformation' 'Congenital hydronephrosis' SubClassOf 'hydronephrosis' http://www.ebi.ac.uk/efo/EFO_0009230 Reticulocyte Corpuscular Hemoglobin Distribution Width 'Reticulocyte Corpuscular Hemoglobin Distribution Width' SubClassOf 'hemoglobin measurement' 'Reticulocyte Corpuscular Hemoglobin Distribution Width' SubClassOf 'hemoglobin measurement' http://www.ebi.ac.uk/efo/EFO_0009213 Hemoglobin B Measurement 'Hemoglobin B Measurement' SubClassOf 'hemoglobin measurement' 'Hemoglobin B Measurement' SubClassOf 'hemoglobin measurement' http://www.ebi.ac.uk/efo/EFO_0009214 Hemoglobin Barts to Total Hemoglobin Ratio Measurement 'Hemoglobin Barts to Total Hemoglobin Ratio Measurement' SubClassOf 'hemoglobin measurement' 'Hemoglobin Barts to Total Hemoglobin Ratio Measurement' SubClassOf 'hemoglobin measurement' http://www.ebi.ac.uk/efo/EFO_0009215 Hemoglobin C Measurement 'Hemoglobin C Measurement' SubClassOf 'hemoglobin measurement' 'Hemoglobin C Measurement' SubClassOf 'hemoglobin measurement' http://www.ebi.ac.uk/efo/EFO_0009216 Hemoglobin C to Total Hemoglobin Ratio Measurement 'Hemoglobin C to Total Hemoglobin Ratio Measurement' SubClassOf 'hemoglobin measurement' 'Hemoglobin C to Total Hemoglobin Ratio Measurement' SubClassOf 'hemoglobin measurement' http://www.ebi.ac.uk/efo/EFO_0009210 Hemoglobin A1 to Total Hemoglobin Ratio Measurement 'Hemoglobin A1 to Total Hemoglobin Ratio Measurement' SubClassOf 'hemoglobin measurement' 'Hemoglobin A1 to Total Hemoglobin Ratio Measurement' SubClassOf 'hemoglobin measurement' http://www.ebi.ac.uk/efo/EFO_0009211 Hemoglobin A2 Prime to Total Hemoglobin Ratio Measurement 'Hemoglobin A2 Prime to Total Hemoglobin Ratio Measurement' SubClassOf 'hemoglobin measurement' 'Hemoglobin A2 Prime to Total Hemoglobin Ratio Measurement' SubClassOf 'hemoglobin measurement' http://www.ebi.ac.uk/efo/EFO_0009212 Hemoglobin A2 to Total Hemoglobin Ratio Measurement 'Hemoglobin A2 to Total Hemoglobin Ratio Measurement' SubClassOf 'hemoglobin measurement' 'Hemoglobin A2 to Total Hemoglobin Ratio Measurement' SubClassOf 'hemoglobin measurement' http://www.orpha.net/ORDO/Orphanet_96325 Isochromosome Y 'Isochromosome Y' SubClassOf 'Chromosome Y structural anomaly' 'Isochromosome Y' SubClassOf 'Chromosome Y structural anomaly' http://www.orpha.net/ORDO/Orphanet_98988 Anterior polar cataract 'Anterior polar cataract' SubClassOf 'Non-syndromic congenital cataract' 'Anterior polar cataract' SubClassOf 'Partial congenital cataract' http://www.ebi.ac.uk/efo/EFO_0000881 obsolete_digit 'obsolete_digit' SubClassOf 'obsolete class' 'obsolete_digit' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000882 obsolete_forelimb 'obsolete_forelimb' SubClassOf 'obsolete class' 'obsolete_forelimb' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98989 Cerulean cataract 'Cerulean cataract' SubClassOf 'Early-onset non-syndromic cataract' 'Cerulean cataract' SubClassOf 'Partial congenital cataract' http://www.ebi.ac.uk/efo/EFO_0000883 obsolete_hindlimb 'obsolete_hindlimb' SubClassOf 'obsolete class' 'obsolete_hindlimb' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0009217 Hemoglobin D to Total Hemoglobin Ratio Measurement 'Hemoglobin D to Total Hemoglobin Ratio Measurement' SubClassOf 'hemoglobin measurement' 'Hemoglobin D to Total Hemoglobin Ratio Measurement' SubClassOf 'hemoglobin measurement' http://www.ebi.ac.uk/efo/EFO_0009218 Hemoglobin E to Total Hemoglobin Ratio Measurement 'Hemoglobin E to Total Hemoglobin Ratio Measurement' SubClassOf 'hemoglobin measurement' 'Hemoglobin E to Total Hemoglobin Ratio Measurement' SubClassOf 'hemoglobin measurement' http://www.ebi.ac.uk/efo/EFO_0000885 obsolete_wing 'obsolete_wing' SubClassOf 'obsolete class' 'obsolete_wing' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0009219 Hemoglobin F to Total Hemoglobin Ratio Measurement 'Hemoglobin F to Total Hemoglobin Ratio Measurement' SubClassOf 'hemoglobin measurement' 'Hemoglobin F to Total Hemoglobin Ratio Measurement' SubClassOf 'hemoglobin measurement' http://www.ebi.ac.uk/efo/EFO_0000886 obsolete_haltere 'obsolete_haltere' SubClassOf 'obsolete class' 'obsolete_haltere' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000887 obsolete_liver 'obsolete_liver' SubClassOf 'obsolete class' 'obsolete_liver' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98990 Coralliform cataract 'Coralliform cataract' SubClassOf 'Non-syndromic congenital cataract' 'Coralliform cataract' SubClassOf 'Partial congenital cataract' http://www.orpha.net/ORDO/Orphanet_98993 Posterior polar cataract 'Posterior polar cataract' SubClassOf 'Non-syndromic congenital cataract' 'Posterior polar cataract' SubClassOf http://purl.obolibrary.org/obo/MONDO_0013411 http://www.orpha.net/ORDO/Orphanet_98992 Partial congenital cataract 'Partial congenital cataract' SubClassOf 'Early-onset non-syndromic cataract' http://purl.obolibrary.org/obo/NCBITaxon_50557 Insecta 'Insecta' SubClassOf 'Arthropoda' 'Insecta' SubClassOf 'Arthropoda' http://www.orpha.net/ORDO/Orphanet_96333 Rare otorhinolaryngological malformation 'Rare otorhinolaryngological malformation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024623 'Rare otorhinolaryngological malformation' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Rare otorhinolaryngological malformation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015475 http://www.orpha.net/ORDO/Orphanet_98994 Total congenital cataract 'Total congenital cataract' SubClassOf 'Early-onset non-syndromic cataract' http://www.orpha.net/ORDO/Orphanet_96334 Paternal uniparental disomy of chromosome 14 'Paternal uniparental disomy of chromosome 14' SubClassOf 'Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect' 'Paternal uniparental disomy of chromosome 14' SubClassOf 'Uniparental disomy of paternal origin' 'Paternal uniparental disomy of chromosome 14' SubClassOf 'Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect' 'Paternal uniparental disomy of chromosome 14' SubClassOf 'Uniparental disomy of paternal origin' http://www.ebi.ac.uk/efo/EFO_0009246 Neutrophils Band Form to Neutrophils Ratio Measurement 'Neutrophils Band Form to Neutrophils Ratio Measurement' SubClassOf 'complete blood cell count' 'Neutrophils Band Form to Neutrophils Ratio Measurement' SubClassOf 'complete blood cell count' http://www.ebi.ac.uk/efo/EFO_0009247 Ovalocyte Count 'Ovalocyte Count' SubClassOf 'complete blood cell count' 'Ovalocyte Count' SubClassOf 'complete blood cell count' http://www.ebi.ac.uk/efo/EFO_0009248 Plasma Cell Count 'Plasma Cell Count' SubClassOf 'complete blood cell count' 'Plasma Cell Count' SubClassOf 'complete blood cell count' http://www.ebi.ac.uk/efo/EFO_0009249 Precursor Plasma Cell Count 'Precursor Plasma Cell Count' SubClassOf 'complete blood cell count' 'Precursor Plasma Cell Count' SubClassOf 'complete blood cell count' http://www.ebi.ac.uk/efo/EFO_0009242 Myeloid Progenitor Cell Count 'Myeloid Progenitor Cell Count' SubClassOf 'complete blood cell count' 'Myeloid Progenitor Cell Count' SubClassOf 'complete blood cell count' http://www.ebi.ac.uk/efo/EFO_0009243 Myeloid to Erythroid Ratio Measurement 'Myeloid to Erythroid Ratio Measurement' SubClassOf 'complete blood cell count' 'Myeloid to Erythroid Ratio Measurement' SubClassOf 'complete blood cell count' http://www.ebi.ac.uk/efo/EFO_0009244 Neutrophilic Metamyelocyte Count 'Neutrophilic Metamyelocyte Count' SubClassOf 'complete blood cell count' 'Neutrophilic Metamyelocyte Count' SubClassOf 'complete blood cell count' http://www.ebi.ac.uk/efo/EFO_0009245 Neutrophilic Myelocyte Count 'Neutrophilic Myelocyte Count' SubClassOf 'complete blood cell count' 'Neutrophilic Myelocyte Count' SubClassOf 'complete blood cell count' http://purl.obolibrary.org/obo/HP_0002243 Protein-losing enteropathy 'Protein-losing enteropathy' SubClassOf 'Abnormality of the digestive system' 'Protein-losing enteropathy' SubClassOf 'Abnormality of the digestive system' http://purl.obolibrary.org/obo/HP_0002242 Abnormality of the intestine 'Abnormality of the intestine' EquivalentTo 'has part' some ('quality' and ('has component' some 'abnormal') and ('inheres in part of' some 'intestine')) http://purl.obolibrary.org/obo/CHEBI_6888 6alpha-methylprednisolone '6alpha-methylprednisolone' SubClassOf 'has_role' some 'anti-inflammatory drug' http://www.orpha.net/ORDO/Orphanet_96346 Anorectal malformation 'Anorectal malformation' SubClassOf 'Genetic digestive tract malformation' 'Anorectal malformation' SubClassOf 'Genetic digestive tract malformation' http://www.ebi.ac.uk/efo/EFO_0009250 Prorubricyte Count 'Prorubricyte Count' SubClassOf 'complete blood cell count' 'Prorubricyte Count' SubClassOf 'complete blood cell count' http://www.ebi.ac.uk/efo/EFO_0009251 Rubricyte Count 'Rubricyte Count' SubClassOf 'complete blood cell count' 'Rubricyte Count' SubClassOf 'complete blood cell count' http://www.ebi.ac.uk/efo/EFO_0009252 Segmented Neutrophils to Neutrophils Ratio Measurement 'Segmented Neutrophils to Neutrophils Ratio Measurement' SubClassOf 'complete blood cell count' 'Segmented Neutrophils to Neutrophils Ratio Measurement' SubClassOf 'complete blood cell count' http://www.ebi.ac.uk/efo/EFO_0009235 Eosinophilic Metamyelocyte Count 'Eosinophilic Metamyelocyte Count' SubClassOf 'complete blood cell count' 'Eosinophilic Metamyelocyte Count' SubClassOf 'complete blood cell count' http://purl.obolibrary.org/obo/CLO_0016555 GM17755 'GM17755' SubClassOf 'cultured cell' 'GM17755' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17755' SubClassOf 'has_quality' some 'male' http://www.ebi.ac.uk/efo/EFO_0009236 Eosinophilic Myelocyte Count 'Eosinophilic Myelocyte Count' SubClassOf 'complete blood cell count' 'Eosinophilic Myelocyte Count' SubClassOf 'complete blood cell count' http://purl.obolibrary.org/obo/CLO_0016558 GM17754 'GM17754' SubClassOf 'has_quality' some 'female' 'GM17754' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17754' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0009237 Estimated Platelets Measurement 'Estimated Platelets Measurement' SubClassOf 'complete blood cell count' 'Estimated Platelets Measurement' SubClassOf 'complete blood cell count' http://www.ebi.ac.uk/efo/EFO_0009238 Immature Plasma Cell Count 'Immature Plasma Cell Count' SubClassOf 'complete blood cell count' 'Immature Plasma Cell Count' SubClassOf 'complete blood cell count' http://www.ebi.ac.uk/efo/EFO_0009231 Reticulocyte Hemoglobin Distribution Width 'Reticulocyte Hemoglobin Distribution Width' SubClassOf 'hemoglobin measurement' 'Reticulocyte Hemoglobin Distribution Width' SubClassOf 'hemoglobin measurement' http://www.ebi.ac.uk/efo/EFO_0009232 Blast Count 'Blast Count' SubClassOf 'complete blood cell count' 'Blast Count' SubClassOf 'complete blood cell count' http://www.ebi.ac.uk/efo/EFO_0009233 Blood Cell Count Ratio Measurement 'Blood Cell Count Ratio Measurement' SubClassOf 'complete blood cell count' 'Blood Cell Count Ratio Measurement' SubClassOf 'complete blood cell count' http://www.ebi.ac.uk/efo/EFO_0009234 Blood Cell Count with Differential 'Blood Cell Count with Differential' SubClassOf 'complete blood cell count' 'Blood Cell Count with Differential' SubClassOf 'complete blood cell count' http://www.orpha.net/ORDO/Orphanet_97678 Maternal uniparental disomy of chromosome 13 'Maternal uniparental disomy of chromosome 13' SubClassOf 'Uniparental disomy of maternal origin' 'Maternal uniparental disomy of chromosome 13' SubClassOf 'Uniparental disomy of maternal origin' http://www.ebi.ac.uk/efo/EFO_0009239 Mature Plasma Cell Count 'Mature Plasma Cell Count' SubClassOf 'complete blood cell count' 'Mature Plasma Cell Count' SubClassOf 'complete blood cell count' http://purl.obolibrary.org/obo/CLO_0016554 GM17756 'GM17756' SubClassOf 'cultured cell' 'GM17756' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17756' SubClassOf 'has_quality' some 'female' http://www.orpha.net/ORDO/Orphanet_97685 17q11 microdeletion syndrome '17q11 microdeletion syndrome' SubClassOf 'Neurofibromatosis type 1' '17q11 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 17' '17q11 microdeletion syndrome' SubClassOf 'Neurofibromatosis type 1' '17q11 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015652 '17q11 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 17' '17q11 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000761 http://purl.obolibrary.org/obo/HP_0002250 Abnormality of the large intestine 'Abnormality of the large intestine' EquivalentTo 'has part' some ('quality' and ('has component' some 'abnormal') and ('inheres in part of' some 'large intestine')) http://www.ebi.ac.uk/efo/EFO_0009240 Metarubricyte Count 'Metarubricyte Count' SubClassOf 'complete blood cell count' 'Metarubricyte Count' SubClassOf 'complete blood cell count' http://www.ebi.ac.uk/efo/EFO_0009241 Monocytoid Cells to Leukocytes Ratio Measurement 'Monocytoid Cells to Leukocytes Ratio Measurement' SubClassOf 'complete blood cell count' 'Monocytoid Cells to Leukocytes Ratio Measurement' SubClassOf 'complete blood cell count' http://www.orpha.net/ORDO/Orphanet_46059 Lathosterolosis 'Lathosterolosis' SubClassOf 'Sterol biosynthesis disorder' 'Lathosterolosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0045017 http://www.ebi.ac.uk/efo/EFO_0009268 family history of Alzheimer’s disease 'family history of Alzheimer’s disease' SubClassOf 'is_about' some 'Alzheimer's disease' 'family history of Alzheimer’s disease' SubClassOf 'Alzheimer's disease biomarker measurement' http://www.orpha.net/ORDO/Orphanet_2156 Hirsutism-skeletal dysplasia-intellectual disability syndrome 'Hirsutism-skeletal dysplasia-intellectual disability syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Hirsutism-skeletal dysplasia-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Hirsutism-skeletal dysplasia-intellectual disability syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Hirsutism-skeletal dysplasia-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 http://www.ebi.ac.uk/efo/EFO_0009269 ADAMTS13 measurement 'ADAMTS13 measurement' SubClassOf 'protein measurement' 'ADAMTS13 measurement' SubClassOf 'protein measurement' 'ADAMTS13 measurement' SubClassOf 'is_about' some 'blood coagulation' http://www.orpha.net/ORDO/Orphanet_2155 Hirschsprung disease - deafness - polydactyly 'Hirschsprung disease - deafness - polydactyly' SubClassOf 'Syndromic genetic deafness' 'Hirschsprung disease - deafness - polydactyly' SubClassOf 'Syndromic anorectal malformation' 'Hirschsprung disease - deafness - polydactyly' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Hirschsprung disease - deafness - polydactyly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021189 'Hirschsprung disease - deafness - polydactyly' SubClassOf 'Syndromic genetic deafness' 'Hirschsprung disease - deafness - polydactyly' SubClassOf 'Syndromic anorectal malformation' 'Hirschsprung disease - deafness - polydactyly' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_2153 Hirschsprung disease - nail hypoplasia - dysmorphism 'Hirschsprung disease - nail hypoplasia - dysmorphism' SubClassOf 'Syndromic anorectal malformation' 'Hirschsprung disease - nail hypoplasia - dysmorphism' SubClassOf 'Syndromic anorectal malformation' 'Hirschsprung disease - nail hypoplasia - dysmorphism' SubClassOf 'Syndromic nail anomaly' 'Hirschsprung disease - nail hypoplasia - dysmorphism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021189 http://www.orpha.net/ORDO/Orphanet_2152 Mowat-Wilson syndrome 'Mowat-Wilson syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Mowat-Wilson syndrome' SubClassOf 'Syndromic intestinal malformation' 'Mowat-Wilson syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Mowat-Wilson syndrome' SubClassOf 'Syndromic intestinal malformation' 'Mowat-Wilson syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Mowat-Wilson syndrome' SubClassOf 'Monogenic disease with epilepsy' 'Mowat-Wilson syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 http://www.ebi.ac.uk/efo/EFO_0009265 nausea and vomiting of pregnancy severity measurement 'nausea and vomiting of pregnancy severity measurement' SubClassOf 'is_about' some 'reproductive system' http://www.orpha.net/ORDO/Orphanet_2151 Hirschsprung disease - ganglioneuroblastoma 'Hirschsprung disease - ganglioneuroblastoma' SubClassOf 'Syndromic anorectal malformation' 'Hirschsprung disease - ganglioneuroblastoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021189 'Hirschsprung disease - ganglioneuroblastoma' SubClassOf 'Syndromic anorectal malformation' 'Hirschsprung disease - ganglioneuroblastoma' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'neuroblastoma' http://www.ebi.ac.uk/efo/EFO_0009266 refractory celiac disease 'refractory celiac disease' SubClassOf 'digestive system disease' 'refractory celiac disease' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'refractory celiac disease' SubClassOf 'has_disease_location' some ('epithelium of small intestine' or ('part_of' some 'epithelium of small intestine')) 'refractory celiac disease' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'celiac disease' 'refractory celiac disease' SubClassOf 'intestinal disease' 'refractory celiac disease' SubClassOf 'has_disease_location' some ('intestinal epithelial cell' or ('part_of' some 'intestinal epithelial cell')) http://www.orpha.net/ORDO/Orphanet_2150 Hirschsprung disease - type D brachydactyly 'Hirschsprung disease - type D brachydactyly' SubClassOf 'Syndromic anorectal malformation' 'Hirschsprung disease - type D brachydactyly' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Hirschsprung disease - type D brachydactyly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021189 'Hirschsprung disease - type D brachydactyly' SubClassOf 'Syndromic anorectal malformation' 'Hirschsprung disease - type D brachydactyly' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.ebi.ac.uk/efo/EFO_0009267 delirium 'delirium' SubClassOf 'mental or behavioural disorder' 'delirium' SubClassOf 'cognitive disorder' http://www.orpha.net/ORDO/Orphanet_98934 Huntington disease-like 2 'Huntington disease-like 2' SubClassOf 'Neuroacanthocytosis' 'Huntington disease-like 2' SubClassOf 'Neuroacanthocytosis' http://purl.obolibrary.org/obo/CHEBI_73924 His-Ala 'His-Ala' SubClassOf 'amide' 'His-Ala' SubClassOf 'amide' http://www.orpha.net/ORDO/Orphanet_2157 Histidinemia 'Histidinemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004738 http://www.orpha.net/ORDO/Orphanet_98938 Colobomatous microphthalmia 'Colobomatous microphthalmia' SubClassOf 'Isolated anophthalmia - microphthalmia' 'Colobomatous microphthalmia' SubClassOf 'Isolated anophthalmia - microphthalmia' 'Colobomatous microphthalmia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001476 'Colobomatous microphthalmia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000170 http://purl.obolibrary.org/obo/CHEBI_6820 methapyrilene 'methapyrilene' SubClassOf 'has_role' some 'carcinogen role' http://www.orpha.net/ORDO/Orphanet_98942 Coloboma of choroid and retina 'Coloboma of choroid and retina' SubClassOf 'Ocular coloboma' 'Coloboma of choroid and retina' SubClassOf http://purl.obolibrary.org/obo/MONDO_0007350 http://www.orpha.net/ORDO/Orphanet_98941 Von Hippel anomaly 'Von Hippel anomaly' SubClassOf 'Syndromic developmental defect of the eye' 'Von Hippel anomaly' SubClassOf 'Peters anomaly' 'Von Hippel anomaly' SubClassOf 'Syndromic developmental defect of the eye' 'Von Hippel anomaly' SubClassOf 'Peters anomaly' http://purl.obolibrary.org/obo/CHEBI_604731 pyrraline 'pyrraline' SubClassOf 'chemical entity' 'pyrraline' SubClassOf 'chemical entity' http://www.ebi.ac.uk/efo/EFO_0009271 Epstein Barr virus nuclear antigen-1 seropositivity 'Epstein Barr virus nuclear antigen-1 seropositivity' SubClassOf 'seropositivity measurement' 'Epstein Barr virus nuclear antigen-1 seropositivity' SubClassOf 'infectious disease biomarker' 'Epstein Barr virus nuclear antigen-1 seropositivity' SubClassOf 'seropositivity measurement' 'Epstein Barr virus nuclear antigen-1 seropositivity' SubClassOf 'infectious disease biomarker' 'Epstein Barr virus nuclear antigen-1 seropositivity' SubClassOf 'is_about' some 'Epstein-Barr virus infection' http://www.ebi.ac.uk/efo/EFO_0009272 Epstein Barr viral capsid antigen seropositivity 'Epstein Barr viral capsid antigen seropositivity' SubClassOf 'seropositivity measurement' 'Epstein Barr viral capsid antigen seropositivity' SubClassOf 'infectious disease biomarker' 'Epstein Barr viral capsid antigen seropositivity' SubClassOf 'seropositivity measurement' 'Epstein Barr viral capsid antigen seropositivity' SubClassOf 'is_about' some 'Epstein-Barr virus infection' 'Epstein Barr viral capsid antigen seropositivity' SubClassOf 'infectious disease biomarker' http://www.ebi.ac.uk/efo/EFO_0009273 anti-Epstein Barr virus antibody measurement 'anti-Epstein Barr virus antibody measurement' SubClassOf 'antibody measurement' 'anti-Epstein Barr virus antibody measurement' SubClassOf 'antibody measurement' 'anti-Epstein Barr virus antibody measurement' SubClassOf 'is_about' some 'Epstein-Barr virus infection' http://www.ebi.ac.uk/efo/EFO_0009274 Epstein Barr viral capsid antigen IgG measurement 'Epstein Barr viral capsid antigen IgG measurement' SubClassOf 'serum IgG measurement' 'Epstein Barr viral capsid antigen IgG measurement' SubClassOf 'serum IgG measurement' 'Epstein Barr viral capsid antigen IgG measurement' SubClassOf 'is_about' some 'Epstein-Barr virus infection' http://www.ebi.ac.uk/efo/EFO_0009270 heel bone mineral density 'heel bone mineral density' SubClassOf 'bone density' 'heel bone mineral density' SubClassOf 'bone density' 'heel bone mineral density' SubClassOf 'is_about' some 'bone' http://www.orpha.net/ORDO/Orphanet_2167 Holzgreve-Wagner-Rehder syndrome 'Holzgreve-Wagner-Rehder syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Holzgreve-Wagner-Rehder syndrome' SubClassOf 'Orofacial clefting syndrome' 'Holzgreve-Wagner-Rehder syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Holzgreve-Wagner-Rehder syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Holzgreve-Wagner-Rehder syndrome' SubClassOf 'Orofacial clefting syndrome' 'Holzgreve-Wagner-Rehder syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 http://www.orpha.net/ORDO/Orphanet_2166 Holoprosencephaly - postaxial polydactyly 'Holoprosencephaly - postaxial polydactyly' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Holoprosencephaly - postaxial polydactyly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Holoprosencephaly - postaxial polydactyly' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Holoprosencephaly - postaxial polydactyly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 http://www.ebi.ac.uk/efo/EFO_0009259 skin carcinoma 'skin carcinoma' SubClassOf 'carcinoma' 'skin carcinoma' SubClassOf 'skin neoplasm' 'skin carcinoma' SubClassOf 'carcinoma' 'skin carcinoma' EquivalentTo 'carcinoma' and ('has_disease_location' some ('zone of skin' or ('part_of' some 'zone of skin'))) 'skin carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021634 'skin carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002898 http://www.orpha.net/ORDO/Orphanet_2163 Holoprosencephaly - craniosynostosis 'Holoprosencephaly - craniosynostosis' SubClassOf 'Syndromic craniosynostosis' 'Holoprosencephaly - craniosynostosis' SubClassOf 'Syndromic craniosynostosis' 'Holoprosencephaly - craniosynostosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017120 http://www.ebi.ac.uk/efo/EFO_0009254 optic nerve glioblastoma 'optic nerve glioblastoma' SubClassOf 'optic nerve neoplasm' 'optic nerve glioblastoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024649 'optic nerve glioblastoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002433 'optic nerve glioblastoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003235 http://www.orpha.net/ORDO/Orphanet_2162 Holoprosencephaly 'Holoprosencephaly' SubClassOf 'Disease associated with non-acquired combined pituitary hormone deficiency' 'Holoprosencephaly' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Holoprosencephaly' SubClassOf 'Midline cerebral malformation' 'Holoprosencephaly' SubClassOf 'Cerebral malformation with epilepsy' 'Holoprosencephaly' SubClassOf 'Disease associated with non-acquired combined pituitary hormone deficiency' 'Holoprosencephaly' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Holoprosencephaly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Holoprosencephaly' SubClassOf 'Midline cerebral malformation' 'Holoprosencephaly' SubClassOf 'Cerebral malformation with epilepsy' http://www.ebi.ac.uk/efo/EFO_0009255 cecal neoplasm 'cecal neoplasm' SubClassOf 'colonic neoplasm' 'cecal neoplasm' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002031 'cecal neoplasm' SubClassOf 'colonic neoplasm' 'cecal neoplasm' SubClassOf 'has_disease_location' some ('caecum' or ('part_of' some 'caecum')) http://www.orpha.net/ORDO/Orphanet_357225 Primary non-essential cutis verticis gyrata 'Primary non-essential cutis verticis gyrata' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018798 'Primary non-essential cutis verticis gyrata' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Primary non-essential cutis verticis gyrata' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019033 'Primary non-essential cutis verticis gyrata' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 http://www.orpha.net/ORDO/Orphanet_98944 Coloboma of iris 'Coloboma of iris' SubClassOf 'Ocular coloboma' 'Coloboma of iris' SubClassOf http://purl.obolibrary.org/obo/MONDO_0007350 http://www.orpha.net/ORDO/Orphanet_98943 Coloboma of eye lens 'Coloboma of eye lens' SubClassOf 'Ocular coloboma' 'Coloboma of eye lens' SubClassOf 'Ocular coloboma' http://www.orpha.net/ORDO/Orphanet_98946 Coloboma of eyelid 'Coloboma of eyelid' SubClassOf 'Ocular coloboma' 'Coloboma of eyelid' SubClassOf 'Eyelid border anomaly' 'Coloboma of eyelid' SubClassOf 'Ocular coloboma' 'Coloboma of eyelid' SubClassOf 'Eyelid border anomaly' http://www.orpha.net/ORDO/Orphanet_98945 Coloboma of macula 'Coloboma of macula' SubClassOf 'Ocular coloboma' 'Coloboma of macula' SubClassOf 'Colobomatous and areolar dystrophy' 'Coloboma of macula' SubClassOf 'Ocular coloboma' 'Coloboma of macula' SubClassOf 'Colobomatous and areolar dystrophy' http://www.orpha.net/ORDO/Orphanet_98948 Congenital symblepharon 'Congenital symblepharon' SubClassOf 'Isolated cryptophthalmia' 'Congenital symblepharon' SubClassOf 'Isolated cryptophthalmia' http://www.orpha.net/ORDO/Orphanet_98947 Coloboma of optic papilla 'Coloboma of optic papilla' SubClassOf 'Ocular coloboma' 'Coloboma of optic papilla' SubClassOf 'Ocular coloboma' http://purl.obolibrary.org/obo/GO_0045184 establishment of protein localization 'establishment of protein localization' SubClassOf 'part_of' some 'protein localization' http://www.orpha.net/ORDO/Orphanet_2169 Methylcobalamin deficiency type cblE 'Methylcobalamin deficiency type cblE' SubClassOf 'Homocystinuria without methylmalonic aciduria' 'Methylcobalamin deficiency type cblE' SubClassOf 'Homocystinuria without methylmalonic aciduria' http://www.orpha.net/ORDO/Orphanet_2168 Homocarnosinosis 'Homocarnosinosis' SubClassOf 'Disorder of peptide metabolism' 'Homocarnosinosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000698 'Homocarnosinosis' SubClassOf 'Disorder of peptide metabolism' http://www.orpha.net/ORDO/Orphanet_98949 Complete cryptophthalmia 'Complete cryptophthalmia' SubClassOf 'Isolated cryptophthalmia' 'Complete cryptophthalmia' SubClassOf 'Isolated cryptophthalmia' http://www.orpha.net/ORDO/Orphanet_98951 Inverse Marcus-Gunn phenomenon 'Inverse Marcus-Gunn phenomenon' SubClassOf 'Marcus-Gunn syndrome' 'Inverse Marcus-Gunn phenomenon' SubClassOf 'Marcus-Gunn syndrome' http://www.orpha.net/ORDO/Orphanet_98950 Partial cryptophthalmia 'Partial cryptophthalmia' SubClassOf 'Isolated cryptophthalmia' 'Partial cryptophthalmia' SubClassOf 'Isolated cryptophthalmia' http://www.ebi.ac.uk/efo/EFO_0009262 nicotine dependence symptom count 'nicotine dependence symptom count' SubClassOf ('is_about' some 'nicotine') or ('is_about' some 'nicotine dependence') or ('is_about' some 'smoking behavior') http://www.ebi.ac.uk/efo/EFO_0009263 nicotine withdrawal symptom count 'nicotine withdrawal symptom count' SubClassOf ('is_about' some 'nicotine') or ('is_about' some 'smoking behavior') http://www.orpha.net/ORDO/Orphanet_285014 Rare disease with thoracic aortic aneurysm and aortic dissection 'Rare disease with thoracic aortic aneurysm and aortic dissection' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Rare disease with thoracic aortic aneurysm and aortic dissection' SubClassOf 'vascular disease' http://www.orpha.net/ORDO/Orphanet_2177 Hydranencephaly 'Hydranencephaly' SubClassOf 'Encephaloclastic disorder' 'Hydranencephaly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000819 'Hydranencephaly' SubClassOf 'Encephaloclastic disorder' http://www.orpha.net/ORDO/Orphanet_2176 Infantile systemic hyalinosis 'Infantile systemic hyalinosis' SubClassOf 'Primary osteolysis' 'Infantile systemic hyalinosis' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Infantile systemic hyalinosis' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Infantile systemic hyalinosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0009229 http://www.ebi.ac.uk/efo/EFO_0009286 heart relative wall thickness 'heart relative wall thickness' SubClassOf 'heart function measurement' 'heart relative wall thickness' SubClassOf 'is_about' some 'heart' 'heart relative wall thickness' SubClassOf 'heart function measurement' http://www.ebi.ac.uk/efo/EFO_0009287 interventricular septum thickness 'interventricular septum thickness' SubClassOf 'heart function measurement' 'interventricular septum thickness' SubClassOf 'is_about' some 'heart' 'interventricular septum thickness' SubClassOf 'heart function measurement' http://www.ebi.ac.uk/efo/EFO_0009288 posterior wall thickness 'posterior wall thickness' SubClassOf 'heart function measurement' 'posterior wall thickness' SubClassOf 'is_about' some 'heart' 'posterior wall thickness' SubClassOf 'heart function measurement' http://www.orpha.net/ORDO/Orphanet_2172 Microcephaly - glomerulonephritis - marfanoid habitus 'Microcephaly - glomerulonephritis - marfanoid habitus' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Microcephaly - glomerulonephritis - marfanoid habitus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Microcephaly - glomerulonephritis - marfanoid habitus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Microcephaly - glomerulonephritis - marfanoid habitus' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.ebi.ac.uk/efo/EFO_0009289 left ventricular mass 'left ventricular mass' SubClassOf 'heart function measurement' 'left ventricular mass' SubClassOf 'is_about' some 'heart' 'left ventricular mass' SubClassOf 'heart function measurement' http://www.orpha.net/ORDO/Orphanet_98955 Lisch epithelial corneal dystrophy 'Lisch epithelial corneal dystrophy' SubClassOf 'Superficial corneal dystrophy' 'Lisch epithelial corneal dystrophy' SubClassOf 'Superficial corneal dystrophy' 'Lisch epithelial corneal dystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000763 http://www.orpha.net/ORDO/Orphanet_357237 Severe combined immunodeficiency due to CARD11 deficiency 'Severe combined immunodeficiency due to CARD11 deficiency' SubClassOf 'T+ B+ severe combined immunodeficiency' 'Severe combined immunodeficiency due to CARD11 deficiency' SubClassOf 'T+ B+ severe combined immunodeficiency' http://www.orpha.net/ORDO/Orphanet_98954 Meesmann corneal dystrophy 'Meesmann corneal dystrophy' SubClassOf 'Superficial corneal dystrophy' 'Meesmann corneal dystrophy' SubClassOf 'Superficial corneal dystrophy' 'Meesmann corneal dystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000763 http://www.orpha.net/ORDO/Orphanet_98957 Gelatinous drop-like corneal dystrophy 'Gelatinous drop-like corneal dystrophy' SubClassOf 'Superficial corneal dystrophy' 'Gelatinous drop-like corneal dystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000763 'Gelatinous drop-like corneal dystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004686 'Gelatinous drop-like corneal dystrophy' SubClassOf 'Superficial corneal dystrophy' http://www.orpha.net/ORDO/Orphanet_98956 Microcystic corneal dystrophy 'Microcystic corneal dystrophy' SubClassOf 'Superficial corneal dystrophy' 'Microcystic corneal dystrophy' SubClassOf 'Superficial corneal dystrophy' 'Microcystic corneal dystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000764 'Microcystic corneal dystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000763 http://www.orpha.net/ORDO/Orphanet_98959 Subepithelial mucinous corneal dystrophy 'Subepithelial mucinous corneal dystrophy' SubClassOf 'Superficial corneal dystrophy' 'Subepithelial mucinous corneal dystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000763 'Subepithelial mucinous corneal dystrophy' SubClassOf 'Superficial corneal dystrophy' http://www.orpha.net/ORDO/Orphanet_98958 Honey-droplet corneal dystrophy 'Honey-droplet corneal dystrophy' SubClassOf 'disease' 'Honey-droplet corneal dystrophy' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://www.orpha.net/ORDO/Orphanet_98960 Thiel-Behnke corneal dystrophy 'Thiel-Behnke corneal dystrophy' SubClassOf 'Superficial corneal dystrophy' 'Thiel-Behnke corneal dystrophy' SubClassOf 'Superficial corneal dystrophy' 'Thiel-Behnke corneal dystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000764 http://purl.obolibrary.org/obo/CHEBI_6842 methoxychlor 'methoxychlor' SubClassOf 'has_role' some 'insecticide' http://www.orpha.net/ORDO/Orphanet_98962 Granular corneal dystrophy type I 'Granular corneal dystrophy type I' SubClassOf 'Stromal corneal dystrophy' 'Granular corneal dystrophy type I' SubClassOf 'Stromal corneal dystrophy' 'Granular corneal dystrophy type I' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000764 http://www.orpha.net/ORDO/Orphanet_98961 Reis-Bücklers corneal dystrophy 'Reis-Bücklers corneal dystrophy' SubClassOf 'Superficial corneal dystrophy' 'Reis-Bücklers corneal dystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000764 'Reis-Bücklers corneal dystrophy' SubClassOf 'Superficial corneal dystrophy' http://www.orpha.net/ORDO/Orphanet_98964 Lattice corneal dystrophy type I 'Lattice corneal dystrophy type I' SubClassOf 'Stromal corneal dystrophy' 'Lattice corneal dystrophy type I' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000764 'Lattice corneal dystrophy type I' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004686 http://www.orpha.net/ORDO/Orphanet_98963 Granular corneal dystrophy type II 'Granular corneal dystrophy type II' SubClassOf 'Stromal corneal dystrophy' 'Granular corneal dystrophy type II' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000764 'Granular corneal dystrophy type II' SubClassOf 'Stromal corneal dystrophy' http://www.orpha.net/ORDO/Orphanet_2170 Methylcobalamin deficiency type cblG 'Methylcobalamin deficiency type cblG' SubClassOf 'Homocystinuria without methylmalonic aciduria' 'Methylcobalamin deficiency type cblG' SubClassOf 'Genetic thrombotic microangiopathy' 'Methylcobalamin deficiency type cblG' SubClassOf 'Homocystinuria without methylmalonic aciduria' 'Methylcobalamin deficiency type cblG' SubClassOf 'Genetic thrombotic microangiopathy' 'Methylcobalamin deficiency type cblG' SubClassOf 'Rare genetic coagulation disorder' http://www.ebi.ac.uk/efo/EFO_0009294 CITE-seq 'CITE-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0009290 left ventricular mass index 'left ventricular mass index' SubClassOf 'heart function measurement' 'left ventricular mass index' SubClassOf 'is_about' some 'heart' 'left ventricular mass index' SubClassOf 'heart function measurement' http://www.ebi.ac.uk/efo/EFO_0009291 E/A ratio 'E/A ratio' SubClassOf 'heart function measurement' 'E/A ratio' SubClassOf 'is_about' some 'heart' 'E/A ratio' SubClassOf 'heart function measurement' http://www.ebi.ac.uk/efo/EFO_0009279 response to tenofovir 'response to tenofovir' SubClassOf 'response to reverse transcriptase inhibitor' 'response to tenofovir' SubClassOf 'response to reverse transcriptase inhibitor' http://www.orpha.net/ORDO/Orphanet_2189 Hydrolethalus 'Hydrolethalus' SubClassOf 'Orofacial clefting syndrome' 'Hydrolethalus' SubClassOf 'Genetic syndrome with a central nervous system malformation as major feature' 'Hydrolethalus' SubClassOf 'autosomal recessive disease' 'Hydrolethalus' SubClassOf 'Orofacial clefting syndrome' 'Hydrolethalus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017120 'Hydrolethalus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 'Hydrolethalus' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_2186 Hydrocephalus - blue sclerae - nephropathy 'Hydrocephalus - blue sclerae - nephropathy' SubClassOf 'Syndromic renal or urinary tract malformation' 'Hydrocephalus - blue sclerae - nephropathy' SubClassOf 'Congenital hydrocephalus' 'Hydrocephalus - blue sclerae - nephropathy' SubClassOf 'Syndromic renal or urinary tract malformation' 'Hydrocephalus - blue sclerae - nephropathy' SubClassOf 'Genetic non-syndromic renal or urinary tract malformation' http://www.ebi.ac.uk/efo/EFO_0009275 premature cardiac contractions 'premature cardiac contractions' SubClassOf 'cardiac arrhythmia' 'premature cardiac contractions' SubClassOf 'has_disease_location' some ('heart' or ('part_of' some 'heart')) 'premature cardiac contractions' SubClassOf 'cardiac arrhythmia' http://www.orpha.net/ORDO/Orphanet_2185 Congenital hydrocephalus 'Congenital hydrocephalus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Congenital hydrocephalus' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Congenital hydrocephalus' SubClassOf 'brain disease' 'Congenital hydrocephalus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021147 http://www.ebi.ac.uk/efo/EFO_0009276 ventricular ectopy 'ventricular ectopy' SubClassOf 'premature cardiac contractions' 'ventricular ectopy' SubClassOf 'premature cardiac contractions' 'ventricular ectopy' SubClassOf 'has_disease_location' some ('heart' or ('part_of' some 'heart')) http://www.ebi.ac.uk/efo/EFO_0009277 supraventricular ectopy 'supraventricular ectopy' SubClassOf 'premature cardiac contractions' 'supraventricular ectopy' SubClassOf 'premature cardiac contractions' 'supraventricular ectopy' SubClassOf 'has_disease_location' some ('heart' or ('part_of' some 'heart')) http://www.orpha.net/ORDO/Orphanet_2183 Hydrocephalus - obesity - hypogonadism 'Hydrocephalus - obesity - hypogonadism' SubClassOf 'Syndromic obesity' 'Hydrocephalus - obesity - hypogonadism' SubClassOf 'Syndromic obesity' http://www.ebi.ac.uk/efo/EFO_0009278 cranial vault morphology measurement 'cranial vault morphology measurement' SubClassOf 'is_about' some 'head' http://www.orpha.net/ORDO/Orphanet_2182 Hydrocephalus with stenosis of the aqueduct of Sylvius 'Hydrocephalus with stenosis of the aqueduct of Sylvius' SubClassOf 'L1 syndrome' 'Hydrocephalus with stenosis of the aqueduct of Sylvius' SubClassOf 'L1 syndrome' 'Hydrocephalus with stenosis of the aqueduct of Sylvius' SubClassOf 'Congenital hydrocephalus' http://purl.obolibrary.org/obo/CLO_0016594 GM17766 'GM17766' SubClassOf 'has_quality' some 'female' 'GM17766' SubClassOf 'cultured cell' 'GM17766' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/CLO_0016593 GM17767 'GM17767' SubClassOf 'has_quality' some 'male' 'GM17767' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17767' SubClassOf 'cultured cell' http://www.orpha.net/ORDO/Orphanet_98967 Schnyder corneal dystrophy 'Schnyder corneal dystrophy' SubClassOf 'Stromal corneal dystrophy' 'Schnyder corneal dystrophy' SubClassOf 'Stromal corneal dystrophy' http://www.orpha.net/ORDO/Orphanet_98969 Macular corneal dystrophy 'Macular corneal dystrophy' SubClassOf 'Stromal corneal dystrophy' 'Macular corneal dystrophy' SubClassOf 'Genetic macular dystrophy' 'Macular corneal dystrophy' SubClassOf 'Stromal corneal dystrophy' http://purl.obolibrary.org/obo/CLO_0016597 GM17768 'GM17768' SubClassOf 'has_quality' some 'female' 'GM17768' SubClassOf 'cultured cell' 'GM17768' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://www.orpha.net/ORDO/Orphanet_98971 Posterior amorphous corneal dystrophy 'Posterior amorphous corneal dystrophy' SubClassOf 'Stromal corneal dystrophy' 'Posterior amorphous corneal dystrophy' SubClassOf 'Stromal corneal dystrophy' http://purl.obolibrary.org/obo/HP_0003546 Exercise intolerance 'Exercise intolerance' SubClassOf 'Abnormality of muscle physiology' 'Exercise intolerance' SubClassOf 'Abnormality of muscle physiology' http://www.orpha.net/ORDO/Orphanet_98970 Fleck corneal dystrophy 'Fleck corneal dystrophy' SubClassOf 'Stromal corneal dystrophy' 'Fleck corneal dystrophy' SubClassOf 'Stromal corneal dystrophy' http://www.orpha.net/ORDO/Orphanet_98973 Posterior polymorphous corneal dystrophy 'Posterior polymorphous corneal dystrophy' SubClassOf 'Secondary glaucoma due to a proliferation and differentiation anomaly' 'Posterior polymorphous corneal dystrophy' SubClassOf 'Posterior corneal dystrophy' 'Posterior polymorphous corneal dystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000766 'Posterior polymorphous corneal dystrophy' SubClassOf 'Secondary glaucoma due to a proliferation and differentiation anomaly' 'Posterior polymorphous corneal dystrophy' SubClassOf 'Posterior corneal dystrophy' http://www.orpha.net/ORDO/Orphanet_98972 Central cloudy dystrophy of Francois 'Central cloudy dystrophy of Francois' SubClassOf 'Posterior corneal dystrophy' 'Central cloudy dystrophy of Francois' SubClassOf 'Posterior corneal dystrophy' 'Central cloudy dystrophy of Francois' SubClassOf 'Stromal corneal dystrophy' http://www.orpha.net/ORDO/Orphanet_98975 Congenital hereditary endothelial dystrophy type I 'Congenital hereditary endothelial dystrophy type I' SubClassOf 'Posterior corneal dystrophy' 'Congenital hereditary endothelial dystrophy type I' SubClassOf 'Posterior corneal dystrophy' http://www.orpha.net/ORDO/Orphanet_98974 Fuchs endothelial corneal dystrophy 'Fuchs endothelial corneal dystrophy' SubClassOf 'Posterior corneal dystrophy' 'Fuchs endothelial corneal dystrophy' SubClassOf 'Posterior corneal dystrophy' 'Fuchs endothelial corneal dystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000766 http://www.ebi.ac.uk/efo/EFO_0009282 sodium measurement 'sodium measurement' SubClassOf 'measurement' 'sodium measurement' SubClassOf 'is_about' some 'sodium' 'sodium measurement' SubClassOf 'measurement' http://www.orpha.net/ORDO/Orphanet_2181 Hydrocephaly - tall stature - joint laxity 'Hydrocephaly - tall stature - joint laxity' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Hydrocephaly - tall stature - joint laxity' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.ebi.ac.uk/efo/EFO_0009283 potassium measurement 'potassium measurement' SubClassOf 'measurement' 'potassium measurement' SubClassOf 'is_about' some 'potassium' 'potassium measurement' SubClassOf 'measurement' http://www.orpha.net/ORDO/Orphanet_2180 Hydrocephalus - costovertebral dysplasia - Sprengel anomaly 'Hydrocephalus - costovertebral dysplasia - Sprengel anomaly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007 http://www.ebi.ac.uk/efo/EFO_0009284 chloride measurement 'chloride measurement' SubClassOf 'measurement' 'chloride measurement' SubClassOf 'measurement' 'chloride measurement' SubClassOf 'is_about' some 'chloride' http://www.ebi.ac.uk/efo/EFO_0009285 fractional shortening 'fractional shortening' SubClassOf 'heart function measurement' 'fractional shortening' SubClassOf 'is_about' some 'heart' 'fractional shortening' SubClassOf 'heart function measurement' http://www.ebi.ac.uk/efo/EFO_0009281 choroidal thickness measurement 'choroidal thickness measurement' SubClassOf 'eye measurement' 'choroidal thickness measurement' SubClassOf 'eye measurement' 'choroidal thickness measurement' SubClassOf 'is_about' some 'eye' http://www.orpha.net/ORDO/Orphanet_2233 Hypogonadism - mitral valve prolapse - intellectual disability 'Hypogonadism - mitral valve prolapse - intellectual disability' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Hypogonadism - mitral valve prolapse - intellectual disability' SubClassOf 'disease' http://www.orpha.net/ORDO/Orphanet_2232 Primary hypergonadotropic hypogonadism - partial alopecia 'Primary hypergonadotropic hypogonadism - partial alopecia' SubClassOf 'disease' 'Primary hypergonadotropic hypogonadism - partial alopecia' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://www.orpha.net/ORDO/Orphanet_2230 Hypogonadotropic hypogonadism - frontoparietal alopecia 'Hypogonadotropic hypogonadism - frontoparietal alopecia' SubClassOf 'Rare disorder with hypogonadotropic hypogonadism' 'Hypogonadotropic hypogonadism - frontoparietal alopecia' SubClassOf 'Rare disorder with hypogonadotropic hypogonadism' http://purl.obolibrary.org/obo/CHEBI_46345 5-fluorouracil '5-fluorouracil' SubClassOf 'has_role' some 'antimetabolite role' '5-fluorouracil' SubClassOf 'has_role' some 'immunosuppressive agent' '5-fluorouracil' SubClassOf 'has_role' some 'antineoplastic agent' http://www.ebi.ac.uk/efo/EFO_0009189 Hyperthyroidism 'Hyperthyroidism' SubClassOf 'thyroid disease' 'Hyperthyroidism' SubClassOf 'thyroid disease' http://www.orpha.net/ORDO/Orphanet_2239 Familial isolated hypoparathyroidism due to agenesis of parathyroid gland 'Familial isolated hypoparathyroidism due to agenesis of parathyroid gland' SubClassOf 'Familial isolated hypoparathyroidism' 'Familial isolated hypoparathyroidism due to agenesis of parathyroid gland' SubClassOf http://purl.obolibrary.org/obo/MONDO_0007796 http://www.orpha.net/ORDO/Orphanet_2238 Familial isolated hypoparathyroidism 'Familial isolated hypoparathyroidism' SubClassOf 'Genetic hypoparathyroidism' 'Familial isolated hypoparathyroidism' SubClassOf 'Metabolic disease with cataract' 'Familial isolated hypoparathyroidism' SubClassOf 'Rare genetic neurological disorder' 'Familial isolated hypoparathyroidism' SubClassOf 'Genetic hypoparathyroidism' 'Familial isolated hypoparathyroidism' SubClassOf 'Metabolic disease with cataract' http://www.orpha.net/ORDO/Orphanet_2237 Hypoparathyroidism - deafness - renal disease 'Hypoparathyroidism - deafness - renal disease' SubClassOf 'Syndromic genetic deafness' 'Hypoparathyroidism - deafness - renal disease' SubClassOf 'Syndromic renal or urinary tract malformation' 'Hypoparathyroidism - deafness - renal disease' SubClassOf 'Syndrome with hypoparathyroidism' 'Hypoparathyroidism - deafness - renal disease' SubClassOf 'Partial deletion of the short arm of chromosome 10' 'Hypoparathyroidism - deafness - renal disease' SubClassOf 'Syndromic genetic deafness' 'Hypoparathyroidism - deafness - renal disease' SubClassOf 'Syndromic renal or urinary tract malformation' 'Hypoparathyroidism - deafness - renal disease' SubClassOf 'Syndrome with hypoparathyroidism' 'Hypoparathyroidism - deafness - renal disease' SubClassOf 'Partial deletion of the short arm of chromosome 10' 'Hypoparathyroidism - deafness - renal disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000761 http://www.orpha.net/ORDO/Orphanet_2235 Hypogonadotropic hypogonadism - retinitis pigmentosa 'Hypogonadotropic hypogonadism - retinitis pigmentosa' SubClassOf 'Syndromic retinitis pigmentosa' 'Hypogonadotropic hypogonadism - retinitis pigmentosa' SubClassOf 'Rare disorder with hypogonadotropic hypogonadism' 'Hypogonadotropic hypogonadism - retinitis pigmentosa' SubClassOf 'Syndromic retinitis pigmentosa' 'Hypogonadotropic hypogonadism - retinitis pigmentosa' SubClassOf 'Rare disorder with hypogonadotropic hypogonadism' http://www.orpha.net/ORDO/Orphanet_2234 Male hypergonadotropic hypogonadism - intellectual disability - skeletal anomalies 'Male hypergonadotropic hypogonadism - intellectual disability - skeletal anomalies' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Male hypergonadotropic hypogonadism - intellectual disability - skeletal anomalies' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Male hypergonadotropic hypogonadism - intellectual disability - skeletal anomalies' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Male hypergonadotropic hypogonadism - intellectual disability - skeletal anomalies' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 http://purl.obolibrary.org/obo/PO_0007631 plant embryo development stage 'plant embryo development stage' SubClassOf 'sporophyte development stage' 'plant embryo development stage' SubClassOf 'sporophyte development stage' http://www.ebi.ac.uk/efo/EFO_0009194 Pulmonary arterial hypertension associated with HIV infection 'Pulmonary arterial hypertension associated with HIV infection' SubClassOf 'Pulmonary arterial hypertension associated with another disease' 'Pulmonary arterial hypertension associated with HIV infection' SubClassOf 'Pulmonary arterial hypertension associated with another disease' http://purl.obolibrary.org/obo/PO_0007632 seed maturation stage 'seed maturation stage' SubClassOf 'seed development stage' 'seed maturation stage' SubClassOf 'seed development stage' http://www.ebi.ac.uk/efo/EFO_0009195 Pulmonary arterial hypertension associated with chronic hemolytic anemia 'Pulmonary arterial hypertension associated with chronic hemolytic anemia' SubClassOf 'Pulmonary arterial hypertension associated with another disease' 'Pulmonary arterial hypertension associated with chronic hemolytic anemia' SubClassOf 'Pulmonary arterial hypertension associated with another disease' http://www.ebi.ac.uk/efo/EFO_0009196 Pulmonary arterial hypertension associated with connective tissue disease 'Pulmonary arterial hypertension associated with connective tissue disease' SubClassOf 'Pulmonary arterial hypertension associated with another disease' 'Pulmonary arterial hypertension associated with connective tissue disease' SubClassOf 'Pulmonary arterial hypertension associated with another disease' http://www.ebi.ac.uk/efo/EFO_0009197 Pulmonary arterial hypertension associated with portal hypertension 'Pulmonary arterial hypertension associated with portal hypertension' SubClassOf 'Pulmonary arterial hypertension associated with another disease' 'Pulmonary arterial hypertension associated with portal hypertension' SubClassOf 'Pulmonary arterial hypertension associated with another disease' http://www.ebi.ac.uk/efo/EFO_0009190 Thyrotoxicosis 'Thyrotoxicosis' SubClassOf 'Hyperthyroidism' 'Thyrotoxicosis' SubClassOf 'Graves disease' http://www.ebi.ac.uk/efo/EFO_0009191 Toxic Nodular Goiter 'Toxic Nodular Goiter' SubClassOf 'Hyperthyroidism' 'Toxic Nodular Goiter' SubClassOf 'Hyperthyroidism' http://purl.obolibrary.org/obo/CHEBI_60645 2-hydroxy-3-methylbutyric acid '2-hydroxy-3-methylbutyric acid' SubClassOf 'acid' '2-hydroxy-3-methylbutyric acid' SubClassOf 'acid' http://www.ebi.ac.uk/efo/EFO_0009192 Drug- or toxin-induced pulmonary arterial hypertension 'Drug- or toxin-induced pulmonary arterial hypertension' SubClassOf 'pulmonary arterial hypertension' 'Drug- or toxin-induced pulmonary arterial hypertension' SubClassOf 'pulmonary arterial hypertension' http://www.ebi.ac.uk/efo/EFO_0009193 Pulmonary arterial hypertension associated with another disease 'Pulmonary arterial hypertension associated with another disease' SubClassOf 'pulmonary arterial hypertension' 'Pulmonary arterial hypertension associated with another disease' SubClassOf 'pulmonary arterial hypertension' http://www.orpha.net/ORDO/Orphanet_2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome 'Megacystis-microcolon-intestinal hypoperistalsis syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Megacystis-microcolon-intestinal hypoperistalsis syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021189 'Megacystis-microcolon-intestinal hypoperistalsis syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' http://www.ebi.ac.uk/efo/EFO_0009176 adrenal suppression measurement 'adrenal suppression measurement' SubClassOf 'hormone measurement' 'adrenal suppression measurement' SubClassOf 'is_about' some 'cortisol' 'adrenal suppression measurement' SubClassOf 'is_about' some 'adrenal gland' 'adrenal suppression measurement' SubClassOf 'hormone measurement' http://www.ebi.ac.uk/efo/EFO_0009177 myopic maculopathy severity measurement 'myopic maculopathy severity measurement' SubClassOf 'eye measurement' 'myopic maculopathy severity measurement' SubClassOf 'is_about' some 'myopic macular degeneration' 'myopic maculopathy severity measurement' SubClassOf 'eye measurement' 'myopic maculopathy severity measurement' SubClassOf 'is_about' some 'eye' http://www.ebi.ac.uk/efo/EFO_0009178 neurofilament light chain measurement 'neurofilament light chain measurement' SubClassOf 'Alzheimer's disease biomarker measurement' 'neurofilament light chain measurement' SubClassOf 'Alzheimer's disease biomarker measurement' 'neurofilament light chain measurement' SubClassOf 'is_about' some 'Huntington disease' 'neurofilament light chain measurement' SubClassOf 'is_about' some 'amyotrophic lateral sclerosis' 'neurofilament light chain measurement' SubClassOf 'is_about' some 'multiple sclerosis' 'neurofilament light chain measurement' SubClassOf 'is_about' some 'Alzheimer's disease' http://www.ebi.ac.uk/efo/EFO_0009179 beta-secretase 1 measurement 'beta-secretase 1 measurement' SubClassOf 'Alzheimer's disease biomarker measurement' 'beta-secretase 1 measurement' SubClassOf 'is_about' some 'brain' 'beta-secretase 1 measurement' SubClassOf 'Alzheimer's disease biomarker measurement' 'beta-secretase 1 measurement' SubClassOf 'is_about' some 'Alzheimer's disease' http://www.orpha.net/ORDO/Orphanet_2249 Ulna hypoplasia - intellectual disability 'Ulna hypoplasia - intellectual disability' SubClassOf 'Genetic syndrome with limb reduction defects' 'Ulna hypoplasia - intellectual disability' SubClassOf 'Genetic syndrome with limb reduction defects' 'Ulna hypoplasia - intellectual disability' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' http://purl.obolibrary.org/obo/CHEBI_73858 1-stearoyl-sn-glycero-3-phosphocholine '1-stearoyl-sn-glycero-3-phosphocholine' SubClassOf 'phospholipid' '1-stearoyl-sn-glycero-3-phosphocholine' SubClassOf 'phospholipid' http://purl.obolibrary.org/obo/HP_0002194 Delayed gross motor development 'Delayed gross motor development' SubClassOf 'Motor delay' 'Delayed gross motor development' SubClassOf 'Motor delay' http://www.ebi.ac.uk/efo/EFO_0009180 rosacea severity measurement 'rosacea severity measurement' SubClassOf 'measurement' 'rosacea severity measurement' SubClassOf 'measurement' 'rosacea severity measurement' SubClassOf 'is_about' some 'skin of body' http://www.ebi.ac.uk/efo/EFO_0009181 growth differentiation factor 15 measurement 'growth differentiation factor 15 measurement' SubClassOf 'measurement' 'growth differentiation factor 15 measurement' SubClassOf 'is_about' some 'blood plasma' http://www.ebi.ac.uk/efo/EFO_0009182 psychotic symptom measurement 'psychotic symptom measurement' SubClassOf 'is_about' some 'psychotic symptoms' http://www.orpha.net/ORDO/Orphanet_2255 Pancreatic hypoplasia - diabetes - congenital heart disease 'Pancreatic hypoplasia - diabetes - congenital heart disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015888 http://www.orpha.net/ORDO/Orphanet_2254 Pontocerebellar hypoplasia type 1 'Pontocerebellar hypoplasia type 1' SubClassOf 'Spinal muscular atrophy associated with central nervous system anomaly' 'Pontocerebellar hypoplasia type 1' SubClassOf 'Non-syndromic pontocerebellar hypoplasia' 'Pontocerebellar hypoplasia type 1' SubClassOf 'Spinal muscular atrophy associated with central nervous system anomaly' 'Pontocerebellar hypoplasia type 1' SubClassOf 'Non-syndromic pontocerebellar hypoplasia' http://www.orpha.net/ORDO/Orphanet_2253 Foveal hypoplasia - presenile cataract 'Foveal hypoplasia - presenile cataract' SubClassOf 'Unclassified primitive or secondary maculopathy' 'Foveal hypoplasia - presenile cataract' SubClassOf 'Unclassified primitive or secondary maculopathy' http://www.orpha.net/ORDO/Orphanet_2252 Radial hypoplasia - triphalangeal thumbs - hypospadias - maxillary diastema 'Radial hypoplasia - triphalangeal thumbs - hypospadias - maxillary diastema' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Radial hypoplasia - triphalangeal thumbs - hypospadias - maxillary diastema' SubClassOf 'Syndromic urogenital tract malformation' 'Radial hypoplasia - triphalangeal thumbs - hypospadias - maxillary diastema' SubClassOf 'Syndromic urogenital tract malformation' 'Radial hypoplasia - triphalangeal thumbs - hypospadias - maxillary diastema' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/CHEBI_71201 xanthurenate 'xanthurenate' SubClassOf 'chemical entity' 'xanthurenate' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_2251 Thumb deformity - alopecia - pigmentation anomaly 'Thumb deformity - alopecia - pigmentation anomaly' SubClassOf 'Genetic syndrome with limb malformations as a major feature' 'Thumb deformity - alopecia - pigmentation anomaly' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Thumb deformity - alopecia - pigmentation anomaly' SubClassOf 'Genetic syndrome with limb malformations as a major feature' http://www.orpha.net/ORDO/Orphanet_2250 Hyposmia - nasal and ocular hypoplasia - hypogonadotropic hypogonadism 'Hyposmia - nasal and ocular hypoplasia - hypogonadotropic hypogonadism' SubClassOf 'Rare disorder with hypogonadotropic hypogonadism' 'Hyposmia - nasal and ocular hypoplasia - hypogonadotropic hypogonadism' SubClassOf 'Rare disorder with hypogonadotropic hypogonadism' 'Hyposmia - nasal and ocular hypoplasia - hypogonadotropic hypogonadism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0011323 http://www.orpha.net/ORDO/Orphanet_2257 Familial primary pulmonary hypoplasia 'Familial primary pulmonary hypoplasia' SubClassOf 'Genetic respiratory malformation' 'Familial primary pulmonary hypoplasia' SubClassOf 'Non-syndromic respiratory or mediastinal malformation' 'Familial primary pulmonary hypoplasia' SubClassOf 'Genetic respiratory malformation' 'Familial primary pulmonary hypoplasia' SubClassOf 'Non-syndromic respiratory or mediastinal malformation' http://www.orpha.net/ORDO/Orphanet_2256 Fibulo-ulnar hypoplasia - renal anomalies 'Fibulo-ulnar hypoplasia - renal anomalies' SubClassOf 'Syndromic renal or urinary tract malformation' 'Fibulo-ulnar hypoplasia - renal anomalies' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Fibulo-ulnar hypoplasia - renal anomalies' SubClassOf 'Syndromic renal or urinary tract malformation' 'Fibulo-ulnar hypoplasia - renal anomalies' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_238670 Isolated thyrotropin-releasing hormone deficiency 'Isolated thyrotropin-releasing hormone deficiency' SubClassOf 'Central congenital hypothyroidism' 'Isolated thyrotropin-releasing hormone deficiency' SubClassOf 'Central congenital hypothyroidism' http://purl.obolibrary.org/obo/CHEBI_6801 metformin 'metformin' SubClassOf 'has_role' some 'hypoglycemic drug' http://www.orpha.net/ORDO/Orphanet_2266 Hypotrichosis-intellectual disability, Lopes type 'Hypotrichosis-intellectual disability, Lopes type' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Hypotrichosis-intellectual disability, Lopes type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 http://purl.obolibrary.org/obo/CHEBI_48999 4-hydroxyphenylacetate '4-hydroxyphenylacetate' SubClassOf 'chemical entity' '4-hydroxyphenylacetate' SubClassOf 'chemical entity' http://www.ebi.ac.uk/efo/EFO_0009198 Pulmonary arterial hypertension associated with schistosomiasis 'Pulmonary arterial hypertension associated with schistosomiasis' SubClassOf 'Pulmonary arterial hypertension associated with another disease' 'Pulmonary arterial hypertension associated with schistosomiasis' SubClassOf 'Pulmonary arterial hypertension associated with another disease' http://purl.obolibrary.org/obo/PO_0006338 embryo leaf 'embryo leaf' SubClassOf 'vascular leaf' 'embryo leaf' SubClassOf 'vascular leaf' http://www.ebi.ac.uk/efo/EFO_0009199 Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis 'Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis' SubClassOf 'respiratory system disease' 'Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0005149 http://www.orpha.net/ORDO/Orphanet_2261 Hypospadias - intellectual disability, Goldblatt type 'Hypospadias - intellectual disability, Goldblatt type' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Hypospadias - intellectual disability, Goldblatt type' SubClassOf 'Syndromic urogenital tract malformation' 'Hypospadias - intellectual disability, Goldblatt type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Hypospadias - intellectual disability, Goldblatt type' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Hypospadias - intellectual disability, Goldblatt type' SubClassOf 'Syndromic urogenital tract malformation' 'Hypospadias - intellectual disability, Goldblatt type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 http://purl.obolibrary.org/obo/CHEBI_48991 7-methylxanthine '7-methylxanthine' SubClassOf 'chemical entity' '7-methylxanthine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_6809 methamphetamine 'methamphetamine' SubClassOf 'has_role' some 'drug role' http://www.orpha.net/ORDO/Orphanet_2269 Ichthyosis - alopecia - eclabion - ectropion - intellectual disability 'Ichthyosis - alopecia - eclabion - ectropion - intellectual disability' SubClassOf 'Ectodermal dysplasia syndrome' 'Ichthyosis - alopecia - eclabion - ectropion - intellectual disability' SubClassOf 'Autosomal ichthyosis syndrome with prominent neurologics signs' 'Ichthyosis - alopecia - eclabion - ectropion - intellectual disability' SubClassOf 'Ectodermal dysplasia syndrome' 'Ichthyosis - alopecia - eclabion - ectropion - intellectual disability' SubClassOf 'Autosomal ichthyosis syndrome with prominent neurologics signs' 'Ichthyosis - alopecia - eclabion - ectropion - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Ichthyosis - alopecia - eclabion - ectropion - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 http://www.orpha.net/ORDO/Orphanet_2268 ICF syndrome 'ICF syndrome' SubClassOf 'DNA repair defect other than combined T-cell and B-cell immunodeficiencies' 'ICF syndrome' SubClassOf 'autosomal recessive disease' 'ICF syndrome' SubClassOf 'Inborn errors of metabolism' 'ICF syndrome' SubClassOf 'DNA repair defect other than combined T-cell and B-cell immunodeficiencies' http://www.orpha.net/ORDO/Orphanet_2267 Ichthyosis-cheek-eyebrow syndrome 'Ichthyosis-cheek-eyebrow syndrome' SubClassOf 'Autosomal ichthyosis syndrome with other associated signs' 'Ichthyosis-cheek-eyebrow syndrome' SubClassOf 'Autosomal ichthyosis syndrome with other associated signs' http://purl.obolibrary.org/obo/CLO_0016523 GM17839 'GM17839' SubClassOf 'has_quality' some 'female' 'GM17839' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17839' SubClassOf 'cultured cell' http://purl.obolibrary.org/obo/CLO_0016522 GM17831 'GM17831' SubClassOf 'cultured cell' 'GM17831' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17831' SubClassOf 'has_quality' some 'female' http://purl.obolibrary.org/obo/CLO_0016525 GM17837 'GM17837' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17837' SubClassOf 'cultured cell' 'GM17837' SubClassOf 'has_quality' some 'male' http://purl.obolibrary.org/obo/CLO_0016524 GM17840 'GM17840' SubClassOf 'has_quality' some 'female' 'GM17840' SubClassOf 'cultured cell' 'GM17840' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/CLO_0016527 GM17841 'GM17841' SubClassOf 'has_quality' some 'female' 'GM17841' SubClassOf 'cultured cell' 'GM17841' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/CLO_0016526 GM17838 'GM17838' SubClassOf 'has_quality' some 'female' 'GM17838' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17838' SubClassOf 'cultured cell' http://purl.obolibrary.org/obo/CLO_0016528 GM17827 'GM17827' SubClassOf 'cultured cell' 'GM17827' SubClassOf 'has_quality' some 'male' 'GM17827' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/CLO_0016521 GM17828 'GM17828' SubClassOf 'cultured cell' 'GM17828' SubClassOf 'has_quality' some 'male' 'GM17828' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/CLO_0016520 GM17835 'GM17835' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17835' SubClassOf 'has_quality' some 'male' 'GM17835' SubClassOf 'cultured cell' http://purl.obolibrary.org/obo/HP_0002148 Hypophosphatemia 'Hypophosphatemia' EquivalentTo 'has part' some ('decreased concentration' and ('inheres_in' some ('phosphate' and ('part_of' some 'blood'))) and ('has component' some 'abnormal')) http://purl.obolibrary.org/obo/CLO_0016519 GM17833 'GM17833' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17833' SubClassOf 'has_quality' some 'female' 'GM17833' SubClassOf 'cultured cell' http://purl.obolibrary.org/obo/PO_0007606 gynoecium development stage 'gynoecium development stage' SubClassOf 'floral organ differentiation stage' 'gynoecium development stage' SubClassOf 'floral organ differentiation stage' http://www.orpha.net/ORDO/Orphanet_2200 Focal palmoplantar and gingival keratoderma 'Focal palmoplantar and gingival keratoderma' SubClassOf 'Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature' 'Focal palmoplantar and gingival keratoderma' SubClassOf 'Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature' http://purl.obolibrary.org/obo/PO_0007607 sepal primordium visible stage 'sepal primordium visible stage' SubClassOf 'calyx development stage' 'sepal primordium visible stage' SubClassOf 'calyx development stage' http://purl.obolibrary.org/obo/PO_0007604 corolla development stage 'corolla development stage' SubClassOf 'floral organ differentiation stage' 'corolla development stage' SubClassOf 'floral organ differentiation stage' http://purl.obolibrary.org/obo/PO_0007605 androecium development stage 'androecium development stage' SubClassOf 'plant structure development stage' 'androecium development stage' SubClassOf 'plant structure development stage' http://purl.obolibrary.org/obo/PO_0007603 calyx development stage 'calyx development stage' SubClassOf 'plant structure development stage' 'calyx development stage' SubClassOf 'plant structure development stage' http://purl.obolibrary.org/obo/PO_0007600 floral organ differentiation stage 'floral organ differentiation stage' SubClassOf 'floral organ formation stage' 'floral organ differentiation stage' SubClassOf 'floral organ formation stage' http://purl.obolibrary.org/obo/CLO_0015209 ND02852 'ND02852' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'ND02852' SubClassOf 'cultured cell' 'ND02852' SubClassOf 'has_quality' some 'male' 'ND02852' SubClassOf 'bearer_of' some 'Parkinson's disease' http://purl.obolibrary.org/obo/PO_0007601 floral organ meristem development stage 'floral organ meristem development stage' SubClassOf 'floral organ formation stage' 'floral organ meristem development stage' SubClassOf 'floral organ formation stage' http://www.orpha.net/ORDO/Orphanet_2207 Familial primary hyperparathyroidism 'Familial primary hyperparathyroidism' SubClassOf 'Genetic hyperparathyroidism' 'Familial primary hyperparathyroidism' SubClassOf 'Genetic hyperparathyroidism' 'Familial primary hyperparathyroidism' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0010837 and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) 'Familial primary hyperparathyroidism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021360 'Familial primary hyperparathyroidism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0010837 http://www.orpha.net/ORDO/Orphanet_2204 Dysplastic cortical hyperostosis 'Dysplastic cortical hyperostosis' SubClassOf 'Primary bone dysplasia with increased bone density' 'Dysplastic cortical hyperostosis' SubClassOf 'Primary bone dysplasia with increased bone density' http://www.orpha.net/ORDO/Orphanet_2203 Hyperlysinemia 'Hyperlysinemia' SubClassOf 'Disorder of lysine and hydroxylysine metabolism' 'Hyperlysinemia' SubClassOf 'Disorder of lysine and hydroxylysine metabolism' http://www.orpha.net/ORDO/Orphanet_2202 Palmoplantar keratoderma-deafness syndrome 'Palmoplantar keratoderma-deafness syndrome' SubClassOf 'Syndromic genetic deafness' 'Palmoplantar keratoderma-deafness syndrome' SubClassOf 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' 'Palmoplantar keratoderma-deafness syndrome' SubClassOf 'Syndromic genetic deafness' 'Palmoplantar keratoderma-deafness syndrome' SubClassOf 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' http://www.orpha.net/ORDO/Orphanet_2201 Palmoplantar keratoderma-spastic paralysis syndrome 'Palmoplantar keratoderma-spastic paralysis syndrome' SubClassOf 'Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature' 'Palmoplantar keratoderma-spastic paralysis syndrome' SubClassOf 'Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature' 'Palmoplantar keratoderma-spastic paralysis syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0007853 http://purl.obolibrary.org/obo/CLO_0016501 GM17809 'GM17809' SubClassOf 'has_quality' some 'male' 'GM17809' SubClassOf 'cultured cell' 'GM17809' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://www.orpha.net/ORDO/Orphanet_2211 Hypertelorism - hypospadias - polysyndactyly syndrome 'Hypertelorism - hypospadias - polysyndactyly syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Hypertelorism - hypospadias - polysyndactyly syndrome' SubClassOf 'Syndromic urogenital tract malformation' 'Hypertelorism - hypospadias - polysyndactyly syndrome' SubClassOf 'Acro-fronto-facio-nasal dysostosis' 'Hypertelorism - hypospadias - polysyndactyly syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Hypertelorism - hypospadias - polysyndactyly syndrome' SubClassOf 'Syndromic urogenital tract malformation' http://purl.obolibrary.org/obo/CLO_0016500 GM17812 'GM17812' SubClassOf 'cultured cell' 'GM17812' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17812' SubClassOf 'has_quality' some 'male' http://purl.obolibrary.org/obo/CLO_0016503 GM17807 'GM17807' SubClassOf 'cultured cell' 'GM17807' SubClassOf 'has_quality' some 'male' 'GM17807' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/PO_0007615 flower development stage 'flower development stage' SubClassOf 'plant structure development stage' 'flower development stage' SubClassOf 'plant structure development stage' http://purl.obolibrary.org/obo/CHEBI_48942 isovalerate 'isovalerate' SubClassOf 'lipid' 'isovalerate' SubClassOf 'lipid' http://purl.obolibrary.org/obo/CLO_0016502 GM17810 'GM17810' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17810' SubClassOf 'has_quality' some 'male' 'GM17810' SubClassOf 'cultured cell' http://purl.obolibrary.org/obo/CLO_0016505 GM17806 'GM17806' SubClassOf 'cultured cell' 'GM17806' SubClassOf 'has_quality' some 'male' 'GM17806' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/PO_0007613 stamen primordium visible stage 'stamen primordium visible stage' SubClassOf 'androecium development stage' 'stamen primordium visible stage' SubClassOf 'androecium development stage' http://purl.obolibrary.org/obo/CLO_0016504 GM17808 'GM17808' SubClassOf 'cultured cell' 'GM17808' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17808' SubClassOf 'has_quality' some 'female' http://purl.obolibrary.org/obo/CLO_0016507 GM17813 'GM17813' SubClassOf 'cultured cell' 'GM17813' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17813' SubClassOf 'has_quality' some 'male' http://purl.obolibrary.org/obo/PO_0007611 petal differentiation and expansion stage 'petal differentiation and expansion stage' SubClassOf 'corolla development stage' 'petal differentiation and expansion stage' SubClassOf 'corolla development stage' http://purl.obolibrary.org/obo/CLO_0016506 GM17815 'GM17815' SubClassOf 'cultured cell' 'GM17815' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17815' SubClassOf 'has_quality' some 'female' http://www.orpha.net/ORDO/Orphanet_2218 Cervical hypertrichosis - peripheral neuropathy 'Cervical hypertrichosis - peripheral neuropathy' SubClassOf 'Hypertrichosis' 'Cervical hypertrichosis - peripheral neuropathy' SubClassOf 'Genetic syndrome with a Dandy-Walker malformation as major feature' 'Cervical hypertrichosis - peripheral neuropathy' SubClassOf 'Rare genetic neurological disorder' 'Cervical hypertrichosis - peripheral neuropathy' SubClassOf 'Hypertrichosis' 'Cervical hypertrichosis - peripheral neuropathy' SubClassOf 'Genetic syndrome with a Dandy-Walker malformation as major feature' http://www.orpha.net/ORDO/Orphanet_2213 Hypertelorism-microtia-facial clefting syndrome 'Hypertelorism-microtia-facial clefting syndrome' SubClassOf 'Orofacial clefting syndrome' 'Hypertelorism-microtia-facial clefting syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Hypertelorism-microtia-facial clefting syndrome' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Hypertelorism-microtia-facial clefting syndrome' SubClassOf 'autosomal recessive disease' 'Hypertelorism-microtia-facial clefting syndrome' SubClassOf 'Orofacial clefting syndrome' 'Hypertelorism-microtia-facial clefting syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Hypertelorism-microtia-facial clefting syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Hypertelorism-microtia-facial clefting syndrome' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Hypertelorism-microtia-facial clefting syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Hypertelorism-microtia-facial clefting syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 http://www.orpha.net/ORDO/Orphanet_263676 Hereditary epidermolysis bullosa associated with ocular features 'Hereditary epidermolysis bullosa associated with ocular features' SubClassOf 'Genodermatosis with ocular features' 'Hereditary epidermolysis bullosa associated with ocular features' SubClassOf 'Genodermatosis with ocular features' http://www.orpha.net/ORDO/Orphanet_2209 Maternal hyperphenylalaninemia 'Maternal hyperphenylalaninemia' SubClassOf 'Disorder of phenylalanine metabolism' 'Maternal hyperphenylalaninemia' SubClassOf 'Phenylketonuria' 'Maternal hyperphenylalaninemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015323 'Maternal hyperphenylalaninemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016678 'Maternal hyperphenylalaninemia' SubClassOf 'Developmental anomaly of metabolic origin' 'Maternal hyperphenylalaninemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Maternal hyperphenylalaninemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 http://www.orpha.net/ORDO/Orphanet_2222 Hypertrichosis lanuginosa congenita 'Hypertrichosis lanuginosa congenita' SubClassOf 'Ectodermal dysplasia syndrome' 'Hypertrichosis lanuginosa congenita' SubClassOf 'Hypertrichosis' 'Hypertrichosis lanuginosa congenita' SubClassOf 'Eyebrow/eyelashes hypertrichosis' 'Hypertrichosis lanuginosa congenita' SubClassOf 'Ectodermal dysplasia syndrome' 'Hypertrichosis lanuginosa congenita' SubClassOf 'Eyebrow/eyelashes hypertrichosis' 'Hypertrichosis lanuginosa congenita' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001334 'Hypertrichosis lanuginosa congenita' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 http://purl.obolibrary.org/obo/CLO_0016511 GM17818 'GM17818' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17818' SubClassOf 'has_quality' some 'male' 'GM17818' SubClassOf 'cultured cell' http://www.orpha.net/ORDO/Orphanet_2220 Hypertrichosis cubiti - short stature 'Hypertrichosis cubiti - short stature' SubClassOf 'Hypertrichosis' 'Hypertrichosis cubiti - short stature' SubClassOf 'Ectodermal dysplasia syndrome' 'Hypertrichosis cubiti - short stature' SubClassOf 'Hypertrichosis' 'Hypertrichosis cubiti - short stature' SubClassOf 'Ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/CLO_0016516 GM17824 'GM17824' SubClassOf 'has_quality' some 'male' 'GM17824' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17824' SubClassOf 'cultured cell' http://purl.obolibrary.org/obo/CLO_0016515 GM17823 'GM17823' SubClassOf 'has_quality' some 'male' 'GM17823' SubClassOf 'cultured cell' 'GM17823' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/CLO_0016518 GM17826 'GM17826' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17826' SubClassOf 'has_quality' some 'male' 'GM17826' SubClassOf 'cultured cell' http://purl.obolibrary.org/obo/CLO_0016517 GM17825 'GM17825' SubClassOf 'has_quality' some 'male' 'GM17825' SubClassOf 'cultured cell' 'GM17825' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/CHEBI_84573 1-hexadecanoyl-2-[(7Z,10Z,13Z,16Z)-docosatetraenoyl]-sn-glycero-3-phosphocholine '1-hexadecanoyl-2-[(7Z,10Z,13Z,16Z)-docosatetraenoyl]-sn-glycero-3-phosphocholine' SubClassOf 'phospholipid' '1-hexadecanoyl-2-[(7Z,10Z,13Z,16Z)-docosatetraenoyl]-sn-glycero-3-phosphocholine' SubClassOf 'phospholipid' http://purl.obolibrary.org/obo/CHEBI_35640 adrenergic uptake inhibitor 'adrenergic uptake inhibitor' SubClassOf 'inheres_in' some 'chemical entity' http://www.orpha.net/ORDO/Orphanet_2229 Dilated cardiomyopathy - hypergonadotropic hypogonadism 'Dilated cardiomyopathy - hypergonadotropic hypogonadism' SubClassOf 'Syndrome associated with dilated cardiomyopathy' 'Dilated cardiomyopathy - hypergonadotropic hypogonadism' SubClassOf 'Syndrome associated with dilated cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_2228 Hypodontia - dysplasia of nails 'Hypodontia - dysplasia of nails' SubClassOf 'Ectodermal dysplasia syndrome' 'Hypodontia - dysplasia of nails' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Hypodontia - dysplasia of nails' SubClassOf 'Ectodermal dysplasia syndrome' 'Hypodontia - dysplasia of nails' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' http://purl.obolibrary.org/obo/CLO_0016510 GM17817 'GM17817' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17817' SubClassOf 'cultured cell' 'GM17817' SubClassOf 'has_quality' some 'female' http://www.orpha.net/ORDO/Orphanet_2224 Hypertryptophanemia 'Hypertryptophanemia' SubClassOf 'Disorder of tryptophan metabolism' 'Hypertryptophanemia' SubClassOf 'Disorder of tryptophan metabolism' http://purl.obolibrary.org/obo/CHEBI_84567 1-palmitoleoyl-2-linoleoyl-sn-glycero-3-phosphocholine '1-palmitoleoyl-2-linoleoyl-sn-glycero-3-phosphocholine' SubClassOf 'phospholipid' '1-palmitoleoyl-2-linoleoyl-sn-glycero-3-phosphocholine' SubClassOf 'phospholipid' http://purl.obolibrary.org/obo/CLO_0016509 GM17816 'GM17816' SubClassOf 'cultured cell' 'GM17816' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17816' SubClassOf 'has_quality' some 'female' http://purl.obolibrary.org/obo/CLO_0016508 GM17814 'GM17814' SubClassOf 'cultured cell' 'GM17814' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17814' SubClassOf 'has_quality' some 'female' http://purl.obolibrary.org/obo/CHEBI_22333 alkylating agent role 'alkylating agent role' SubClassOf 'inheres_in' some 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_24996 lactate 'lactate' SubClassOf 'chemical entity' 'lactate' SubClassOf 'chemical entity' http://www.ebi.ac.uk/efo/EFO_1001031 malignant hypertension 'malignant hypertension' SubClassOf 'hypertension' 'malignant hypertension' SubClassOf 'hypertension' http://www.ebi.ac.uk/efo/EFO_1001030 male genital tuberculosis 'male genital tuberculosis' SubClassOf 'male reproductive system disease' 'male genital tuberculosis' SubClassOf 'Tuberculosis' 'male genital tuberculosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018396 'male genital tuberculosis' SubClassOf 'urogenital tuberculosis' 'male genital tuberculosis' SubClassOf 'has_disease_location' some ('male reproductive system' or ('part_of' some 'male reproductive system')) 'male genital tuberculosis' SubClassOf 'Tuberculosis' http://purl.obolibrary.org/obo/PO_0005059 root endodermis 'root endodermis' SubClassOf 'root cortex' 'root endodermis' SubClassOf 'root cortex' http://purl.obolibrary.org/obo/PO_0030015 sporophyte meristematic apical cell 'sporophyte meristematic apical cell' SubClassOf 'meristematic apical cell' 'sporophyte meristematic apical cell' SubClassOf 'meristematic apical cell' http://www.ebi.ac.uk/efo/EFO_1001039 Melkersson-Rosenthal syndrome 'Melkersson-Rosenthal syndrome' SubClassOf 'immune system disease' 'Melkersson-Rosenthal syndrome' SubClassOf 'immune system disease' 'Melkersson-Rosenthal syndrome' SubClassOf 'facial nerve disease' 'Melkersson-Rosenthal syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002102 'Melkersson-Rosenthal syndrome' SubClassOf 'urticaria' 'Melkersson-Rosenthal syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Melkersson-Rosenthal syndrome' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://www.ebi.ac.uk/efo/EFO_1001038 melanotic neuroectodermal tumor 'melanotic neuroectodermal tumor' SubClassOf 'bone neoplasm' 'melanotic neuroectodermal tumor' SubClassOf 'bone neoplasm' http://purl.obolibrary.org/obo/PO_0030014 gametophyte meristematic apical cell 'gametophyte meristematic apical cell' SubClassOf 'meristematic apical cell' 'gametophyte meristematic apical cell' SubClassOf 'meristematic apical cell' http://www.ebi.ac.uk/efo/EFO_1001037 meconium aspiration syndrome 'meconium aspiration syndrome' SubClassOf 'lung disease' 'meconium aspiration syndrome' SubClassOf 'lung disease' 'meconium aspiration syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015118 'meconium aspiration syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024263 http://www.ebi.ac.uk/efo/EFO_1001036 Meckel's diverticulum 'Meckel's diverticulum' SubClassOf 'genetic disorder' 'Meckel's diverticulum' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000839 'Meckel's diverticulum' SubClassOf 'genetic disorder' 'Meckel's diverticulum' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003847 http://www.ebi.ac.uk/efo/EFO_1001035 maxillary sinus neoplasm 'maxillary sinus neoplasm' SubClassOf 'paranasal sinus neoplasm' 'maxillary sinus neoplasm' SubClassOf 'maxillary neoplasm' 'maxillary sinus neoplasm' SubClassOf 'paranasal sinus neoplasm' http://www.ebi.ac.uk/efo/EFO_1001034 mastitis 'mastitis' SubClassOf 'breast disease' 'mastitis' SubClassOf 'participates_in' some 'inflammatory response' 'mastitis' SubClassOf 'reproductive system disease' 'mastitis' SubClassOf 'has_disease_location' some ('breast' or ('part_of' some 'breast')) 'mastitis' SubClassOf 'breast disease' 'mastitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021166 http://www.ebi.ac.uk/efo/EFO_1001033 marasmus 'marasmus' SubClassOf 'protein energy malnutrition' 'marasmus' SubClassOf 'protein energy malnutrition' http://www.ebi.ac.uk/efo/EFO_1001032 malignant lymphatic vessel tumor 'malignant lymphatic vessel tumor' SubClassOf 'lymphoid neoplasm' 'malignant lymphatic vessel tumor' SubClassOf 'lymphoid neoplasm' 'malignant lymphatic vessel tumor' SubClassOf 'has_disease_location' some ('lymphatic vessel' or ('part_of' some 'lymphatic vessel')) http://www.orpha.net/ORDO/Orphanet_238613 Beckwith-Wiedemann syndrome due to NSD1 mutation 'Beckwith-Wiedemann syndrome due to NSD1 mutation' SubClassOf 'Beckwith-Wiedemann syndrome' 'Beckwith-Wiedemann syndrome due to NSD1 mutation' SubClassOf 'Beckwith-Wiedemann syndrome' http://purl.obolibrary.org/obo/UBERON_0001621 coronary artery 'coronary artery' SubClassOf 'artery' 'coronary artery' SubClassOf http://purl.obolibrary.org/obo/UBERON_0004573 'coronary artery' SubClassOf 'part_of' some 'heart' 'coronary artery' SubClassOf http://purl.obolibrary.org/obo/UBERON_0003498 http://purl.obolibrary.org/obo/PO_0005052 plant callus 'plant callus' SubClassOf 'plant anatomical entity' 'plant callus' SubClassOf 'plant anatomical entity' http://purl.obolibrary.org/obo/UBERON_0001637 artery 'artery' SubClassOf 'blood vessel' 'artery' SubClassOf http://purl.obolibrary.org/obo/UBERON_0003509 http://www.ebi.ac.uk/efo/EFO_1001042 mesenchymoma 'mesenchymoma' SubClassOf 'cancer' 'mesenchymoma' SubClassOf 'neoplasm' 'mesenchymoma' SubClassOf 'cancer' http://purl.obolibrary.org/obo/UBERON_0001638 vein 'vein' SubClassOf 'blood vessel' 'vein' SubClassOf http://purl.obolibrary.org/obo/UBERON_0003920 http://www.ebi.ac.uk/efo/EFO_1001041 mesenchymal chondrosarcoma 'mesenchymal chondrosarcoma' SubClassOf 'chondrosarcoma' 'mesenchymal chondrosarcoma' SubClassOf 'chondrosarcoma' 'mesenchymal chondrosarcoma' SubClassOf 'small cell sarcoma' http://www.ebi.ac.uk/efo/EFO_1001040 meningococcal meningitis 'meningococcal meningitis' SubClassOf 'infectious meningitis' 'meningococcal meningitis' SubClassOf 'infectious meningitis' 'meningococcal meningitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015659 'meningococcal meningitis' SubClassOf 'bacterial meningitis' http://purl.obolibrary.org/obo/PO_0030004 chloronema 'chloronema' SubClassOf 'protonema' 'chloronema' SubClassOf 'protonema' http://purl.obolibrary.org/obo/PO_0030007 meristematic apical cell 'meristematic apical cell' SubClassOf 'meristematic cell' 'meristematic apical cell' SubClassOf 'meristematic cell' http://www.ebi.ac.uk/efo/EFO_1001049 mucoepidermoid tumor 'mucoepidermoid tumor' SubClassOf 'adenocarcinoma' 'mucoepidermoid tumor' SubClassOf 'adenocarcinoma' 'mucoepidermoid tumor' SubClassOf 'cystic, mucinous, and serous neoplasm' http://purl.obolibrary.org/obo/PO_0030003 protonema 'protonema' SubClassOf 'portion of plant tissue' 'protonema' SubClassOf 'portion of plant tissue' http://www.ebi.ac.uk/efo/EFO_1001048 mucinous cystadenoma 'mucinous cystadenoma' SubClassOf 'adenoma' 'mucinous cystadenoma' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0002369 and http://purl.obolibrary.org/obo/MONDO_0024338 'mucinous cystadenoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024338 'mucinous cystadenoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002369 'mucinous cystadenoma' SubClassOf 'adenoma' http://www.ebi.ac.uk/efo/EFO_1001047 mouth disease 'mouth disease' SubClassOf 'digestive system disease' 'mouth disease' EquivalentTo 'disease' and ('has_disease_location' some 'mouth') 'mouth disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0005042 'mouth disease' SubClassOf 'has_disease_location' some ('mouth' or ('part_of' some 'mouth')) 'mouth disease' SubClassOf 'digestive system disease' http://www.ebi.ac.uk/efo/EFO_1001046 obsolete_Mobius syndrome 'obsolete_Mobius syndrome' SubClassOf 'obsolete class' 'obsolete_Mobius syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001045 middle cerebral artery infarction 'middle cerebral artery infarction' SubClassOf 'cerebral arterial disease' 'middle cerebral artery infarction' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002679 'middle cerebral artery infarction' SubClassOf 'cerebral arterial disease' http://purl.obolibrary.org/obo/CHEBI_35623 anticonvulsant 'anticonvulsant' SubClassOf 'inheres_in' some 'chemical entity' http://www.ebi.ac.uk/efo/EFO_1001044 mesothelial neoplasm 'mesothelial neoplasm' SubClassOf 'neoplasm' 'mesothelial neoplasm' SubClassOf 'neoplasm' 'mesothelial neoplasm' SubClassOf 'has_disease_location' some ('mesoderm' or ('part_of' some 'mesoderm')) 'mesothelial neoplasm' SubClassOf 'has_disease_location' some 'mesodermal cell' http://www.ebi.ac.uk/efo/EFO_1001043 mesenteric vascular occlusion 'mesenteric vascular occlusion' SubClassOf 'peripheral vascular disease' 'mesenteric vascular occlusion' SubClassOf 'peripheral vascular disease' http://www.ebi.ac.uk/efo/EFO_1001053 myoclonic cerebellar dyssynergia 'myoclonic cerebellar dyssynergia' SubClassOf 'neurodegenerative disease' 'myoclonic cerebellar dyssynergia' SubClassOf 'neurodegenerative disease' 'myoclonic cerebellar dyssynergia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000114 'myoclonic cerebellar dyssynergia' SubClassOf 'Genetic neurodegenerative disease' http://www.ebi.ac.uk/efo/EFO_1001052 myeloid sarcoma 'myeloid sarcoma' SubClassOf 'sarcoma' 'myeloid sarcoma' SubClassOf 'myeloid neoplasm' 'myeloid sarcoma' SubClassOf 'sarcoma' 'myeloid sarcoma' SubClassOf 'has_disease_location' some 'myeloid cell' 'myeloid sarcoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015667 http://www.ebi.ac.uk/efo/EFO_1001051 mycosis fungoides 'mycosis fungoides' SubClassOf 'Cutaneous T-cell lymphoma' 'mycosis fungoides' SubClassOf 'Cutaneous T-cell lymphoma' 'mycosis fungoides' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015821 http://www.ebi.ac.uk/efo/EFO_1001050 multiple system atrophy 'multiple system atrophy' SubClassOf 'Atrophy' 'multiple system atrophy' SubClassOf 'synucleinopathy' 'multiple system atrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015914 'multiple system atrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017641 'multiple system atrophy' SubClassOf 'Atrophy' http://purl.obolibrary.org/obo/UBERON_0001645 trigeminal nerve 'trigeminal nerve' SubClassOf 'animal component' 'trigeminal nerve' SubClassOf http://purl.obolibrary.org/obo/UBERON_0001785 'trigeminal nerve' SubClassOf 'part_of' some 'peripheral nervous system' http://purl.obolibrary.org/obo/UBERON_0000317 colonic mucosa 'colonic mucosa' SubClassOf 'animal component' 'colonic mucosa' SubClassOf 'part_of' some 'colon' 'colonic mucosa' SubClassOf http://purl.obolibrary.org/obo/UBERON_0001207 http://www.ebi.ac.uk/efo/EFO_1001059 neonatal myasthenia gravis 'neonatal myasthenia gravis' SubClassOf 'Myasthenia gravis' 'neonatal myasthenia gravis' SubClassOf 'Myasthenia gravis' http://www.orpha.net/ORDO/Orphanet_227976 Autosomal recessive optic atrophy, OPA7 type 'Autosomal recessive optic atrophy, OPA7 type' SubClassOf 'Mitochondrial oxidative phosphorylation disorder with no known mechanism' 'Autosomal recessive optic atrophy, OPA7 type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043878 'Autosomal recessive optic atrophy, OPA7 type' SubClassOf 'Mitochondrial oxidative phosphorylation disorder with no known mechanism' 'Autosomal recessive optic atrophy, OPA7 type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Autosomal recessive optic atrophy, OPA7 type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018609 http://www.ebi.ac.uk/efo/EFO_1001058 necrotizing ulcerative gingivitis 'necrotizing ulcerative gingivitis' SubClassOf 'tooth disease' 'necrotizing ulcerative gingivitis' SubClassOf 'has_disease_location' some ('gingiva' or ('part_of' some 'gingiva')) 'necrotizing ulcerative gingivitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002508 'necrotizing ulcerative gingivitis' SubClassOf 'tooth disease' http://www.ebi.ac.uk/efo/EFO_1001057 necrotizing sialometaplasia 'necrotizing sialometaplasia' SubClassOf 'mouth disease' 'necrotizing sialometaplasia' SubClassOf 'salivary gland disease' 'necrotizing sialometaplasia' SubClassOf 'has_disease_location' some ('saliva-secreting gland' or ('part_of' some 'saliva-secreting gland')) 'necrotizing sialometaplasia' SubClassOf 'mouth disease' http://www.ebi.ac.uk/efo/EFO_1001056 myxosarcoma 'myxosarcoma' SubClassOf 'sarcoma' 'myxosarcoma' SubClassOf 'sarcoma' 'myxosarcoma' SubClassOf 'soft tissue sarcoma' 'myxosarcoma' SubClassOf 'has_disease_location' some ('connective tissue' or ('part_of' some 'connective tissue')) http://www.ebi.ac.uk/efo/EFO_1001055 myxedema 'myxedema' SubClassOf 'hypothyroidism' 'myxedema' SubClassOf 'hypothyroidism' http://www.ebi.ac.uk/efo/EFO_1001054 myofascial pain syndrome 'myofascial pain syndrome' SubClassOf 'myopathy' 'myofascial pain syndrome' SubClassOf 'myopathy' http://purl.obolibrary.org/obo/HP_0100790 Hernia 'Hernia' SubClassOf 'Abnormality of connective tissue' 'Hernia' SubClassOf 'Abnormality of connective tissue' http://purl.obolibrary.org/obo/UBERON_0000310 breast 'breast' SubClassOf 'part_of' some 'chest' http://purl.obolibrary.org/obo/CHEBI_23614 deoxycholate 'deoxycholate' SubClassOf 'chemical entity' 'deoxycholate' SubClassOf 'chemical entity' http://www.ebi.ac.uk/efo/EFO_1001064 non-gestational choriocarcinoma 'non-gestational choriocarcinoma' SubClassOf 'choriocarcinoma' 'non-gestational choriocarcinoma' SubClassOf 'has_disease_location' some ('reproductive system' or ('part_of' some 'reproductive system')) 'non-gestational choriocarcinoma' SubClassOf 'choriocarcinoma' http://www.ebi.ac.uk/efo/EFO_1001063 noma 'noma' SubClassOf 'aphthous ulcer' 'noma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043424 'noma' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'noma' SubClassOf 'bacterial disease' 'noma' SubClassOf 'aphthous ulcer' 'noma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004848 http://www.ebi.ac.uk/efo/EFO_1001062 nodular goiter 'nodular goiter' SubClassOf 'goiter' 'nodular goiter' SubClassOf 'goiter' http://www.ebi.ac.uk/efo/EFO_1001061 neurogenic bowel 'neurogenic bowel' SubClassOf 'digestive system disease' 'neurogenic bowel' SubClassOf 'intestinal disease' 'neurogenic bowel' SubClassOf 'has_disease_location' some ('intestine' or ('part_of' some 'intestine')) 'neurogenic bowel' SubClassOf 'digestive system disease' http://www.ebi.ac.uk/efo/EFO_1001060 neovascular glaucoma 'neovascular glaucoma' SubClassOf 'glaucoma' 'neovascular glaucoma' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'neovascular glaucoma' SubClassOf 'glaucoma' http://www.ebi.ac.uk/efo/EFO_1001069 ocular hypertension 'ocular hypertension' SubClassOf 'hypertension' 'ocular hypertension' SubClassOf 'eye disease' 'ocular hypertension' SubClassOf 'has_disease_location' some ('eye' or ('part_of' some 'eye')) 'ocular hypertension' SubClassOf 'hypertension' 'ocular hypertension' SubClassOf 'eye disease' 'ocular hypertension' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043218 http://www.ebi.ac.uk/efo/EFO_1001068 obstructive jaundice 'obstructive jaundice' SubClassOf 'Non-Neoplastic Bile Duct Disorder' 'obstructive jaundice' SubClassOf 'Non-Neoplastic Bile Duct Disorder' 'obstructive jaundice' SubClassOf 'has_disease_location' some ('bile duct' or ('part_of' some 'bile duct')) 'obstructive jaundice' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001751 http://www.ebi.ac.uk/efo/EFO_1001067 nutritional deficiency disease 'nutritional deficiency disease' SubClassOf 'nutritional disorder' 'nutritional deficiency disease' SubClassOf 'nutritional disorder' http://www.ebi.ac.uk/efo/EFO_1001066 nut allergic reaction 'nut allergic reaction' SubClassOf 'food allergy' 'nut allergic reaction' SubClassOf 'food allergy' 'nut allergic reaction' SubClassOf 'allergy' http://www.ebi.ac.uk/efo/EFO_1001065 normal pressure hydrocephalus 'normal pressure hydrocephalus' SubClassOf 'nervous system disease' 'normal pressure hydrocephalus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002045 'normal pressure hydrocephalus' SubClassOf 'nervous system disease' http://www.ebi.ac.uk/efo/EFO_1001075 oral leukoedema 'oral leukoedema' SubClassOf 'mouth disease' 'oral leukoedema' SubClassOf 'has_disease_location' some ('mouth' or ('part_of' some 'mouth')) 'oral leukoedema' SubClassOf 'mouth disease' http://www.ebi.ac.uk/efo/EFO_1001074 optic papillitis 'optic papillitis' SubClassOf 'eye disease' 'optic papillitis' SubClassOf 'eye disease' 'optic papillitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002708 'optic papillitis' SubClassOf 'optic neuritis' http://www.ebi.ac.uk/efo/EFO_1001073 optic nerve neoplasm 'optic nerve neoplasm' SubClassOf 'brain neoplasm' 'optic nerve neoplasm' SubClassOf 'brain neoplasm' 'optic nerve neoplasm' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002135 'optic nerve neoplasm' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002633 http://www.ebi.ac.uk/efo/EFO_1001072 opportunistic Moraxellaceae infectious disease 'opportunistic Moraxellaceae infectious disease' SubClassOf 'bacterial disease' 'opportunistic Moraxellaceae infectious disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021678 'opportunistic Moraxellaceae infectious disease' SubClassOf 'bacterial disease' http://www.ebi.ac.uk/efo/EFO_1001071 oophoritis 'oophoritis' SubClassOf 'ovarian disease' 'oophoritis' SubClassOf 'ovarian disease' 'oophoritis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021166 http://www.ebi.ac.uk/efo/EFO_1001070 ocular tuberculosis 'ocular tuberculosis' SubClassOf 'Tuberculosis' 'ocular tuberculosis' SubClassOf 'Tuberculosis' 'ocular tuberculosis' SubClassOf 'has_disease_location' some ('eye' or ('part_of' some 'eye')) http://www.orpha.net/ORDO/Orphanet_141258 Tessier number 4 facial cleft 'Tessier number 4 facial cleft' SubClassOf 'Oblique facial cleft' 'Tessier number 4 facial cleft' SubClassOf 'Oblique facial cleft' 'Tessier number 4 facial cleft' SubClassOf 'Oculomaxillofacial dysostosis' http://www.orpha.net/ORDO/Orphanet_200037 Paroxysmal dystonia 'Paroxysmal dystonia' SubClassOf 'Rare paroxysmal movement disorder' 'Paroxysmal dystonia' SubClassOf 'Combined dystonia' 'Paroxysmal dystonia' SubClassOf 'Rare paroxysmal movement disorder' 'Paroxysmal dystonia' SubClassOf 'Combined dystonia' http://www.ebi.ac.uk/efo/EFO_1001079 oxyphilic adenoma 'oxyphilic adenoma' SubClassOf 'endocrine neoplasm' 'oxyphilic adenoma' SubClassOf 'endocrine neoplasm' http://www.ebi.ac.uk/efo/EFO_1001078 orchitis 'orchitis' SubClassOf 'testicular disease' 'orchitis' SubClassOf 'testicular disease' 'orchitis' SubClassOf 'has_disease_location' some ('testis' or ('part_of' some 'testis')) 'orchitis' SubClassOf 'reproductive system disease' 'orchitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021166 'orchitis' SubClassOf 'participates_in' some 'inflammatory response' http://www.ebi.ac.uk/efo/EFO_1001077 orbital plasma cell granuloma 'orbital plasma cell granuloma' SubClassOf 'orbital cancer' 'orbital plasma cell granuloma' SubClassOf 'has_disease_location' some ('orbit' or ('part_of' some 'orbit')) 'orbital plasma cell granuloma' SubClassOf 'orbital cancer' http://www.ebi.ac.uk/efo/EFO_1001076 orbital cellulitis 'orbital cellulitis' SubClassOf 'cellulitis' 'orbital cellulitis' SubClassOf 'has_disease_location' some ('orbit' or ('part_of' some 'orbit')) 'orbital cellulitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001230 'orbital cellulitis' SubClassOf 'cellulitis' http://www.orpha.net/ORDO/Orphanet_141253 Oblique facial cleft 'Oblique facial cleft' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015411 http://www.orpha.net/ORDO/Orphanet_238650 Congenital primary megaureter, refluxing form 'Congenital primary megaureter, refluxing form' SubClassOf 'Congenital primary megaureter' 'Congenital primary megaureter, refluxing form' SubClassOf 'Congenital primary megaureter' http://www.orpha.net/ORDO/Orphanet_238654 Congenital primary megaureter, nonrefluxing and unobstructed form 'Congenital primary megaureter, nonrefluxing and unobstructed form' SubClassOf 'Congenital primary megaureter' 'Congenital primary megaureter, nonrefluxing and unobstructed form' SubClassOf 'Congenital primary megaureter' http://purl.obolibrary.org/obo/UBERON_0014903 primordial vasculature 'primordial vasculature' SubClassOf 'primordium' http://purl.obolibrary.org/obo/UBERON_0014907 intersegmental vessel 'intersegmental vessel' SubClassOf 'blood vessel' http://purl.obolibrary.org/obo/UBERON_0002924 terminal nerve 'terminal nerve' SubClassOf 'part_of' some 'peripheral nervous system' 'terminal nerve' SubClassOf http://purl.obolibrary.org/obo/UBERON_0001785 http://www.ebi.ac.uk/efo/EFO_1001086 paraphimosis 'paraphimosis' SubClassOf 'reproductive system disease' 'paraphimosis' SubClassOf 'reproductive system disease' 'paraphimosis' SubClassOf 'phimosis' http://www.orpha.net/ORDO/Orphanet_141261 Tessier number 5 facial cleft 'Tessier number 5 facial cleft' SubClassOf 'Oblique facial cleft' 'Tessier number 5 facial cleft' SubClassOf 'Oblique facial cleft' http://www.ebi.ac.uk/efo/EFO_1001085 paraneoplastic polyneuropathy 'paraneoplastic polyneuropathy' SubClassOf 'polyneuropathy' 'paraneoplastic polyneuropathy' SubClassOf 'polyneuropathy' 'paraneoplastic polyneuropathy' SubClassOf 'has_disease_location' some 'motor neuron' 'paraneoplastic polyneuropathy' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0021073 and 'polyneuropathy' 'paraneoplastic polyneuropathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018215 http://www.ebi.ac.uk/efo/EFO_1001084 parametritis 'parametritis' SubClassOf 'female reproductive system disease' 'parametritis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002654 'parametritis' SubClassOf 'participates_in' some 'inflammatory response' 'parametritis' SubClassOf 'Pelvic Inflammatory Disease' 'parametritis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0045043 'parametritis' SubClassOf 'has_disease_location' some ('pelvis' or ('part_of' some 'pelvis')) 'parametritis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043786 http://www.ebi.ac.uk/efo/EFO_1001083 papillary follicular thyroid adenocarcinoma 'papillary follicular thyroid adenocarcinoma' SubClassOf 'papillary thyroid carcinoma' 'papillary follicular thyroid adenocarcinoma' SubClassOf 'follicular thyroid carcinoma' 'papillary follicular thyroid adenocarcinoma' SubClassOf 'papillary thyroid carcinoma' http://www.ebi.ac.uk/efo/EFO_1001082 panuveitis 'panuveitis' SubClassOf 'uveitis' 'panuveitis' SubClassOf 'uveitis' 'panuveitis' SubClassOf 'has_disease_location' some ('eye' or ('part_of' some 'eye')) http://www.ebi.ac.uk/efo/EFO_1001081 panophthalmitis 'panophthalmitis' SubClassOf 'eye disease' 'panophthalmitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004863 'panophthalmitis' SubClassOf 'eye disease' 'panophthalmitis' SubClassOf 'has_disease_location' some ('eye' or ('part_of' some 'eye')) 'panophthalmitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001718 http://www.ebi.ac.uk/efo/EFO_1001080 Pancoast tumor 'Pancoast tumor' SubClassOf 'lung carcinoma' 'Pancoast tumor' SubClassOf 'lung carcinoma' 'Pancoast tumor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024813 'Pancoast tumor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0008903 http://www.orpha.net/ORDO/Orphanet_141269 Lateral facial cleft 'Lateral facial cleft' SubClassOf 'Genetic head and neck malformation' 'Lateral facial cleft' SubClassOf 'Genetic head and neck malformation' 'Lateral facial cleft' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015411 http://www.orpha.net/ORDO/Orphanet_141265 Tessier number 6 facial cleft 'Tessier number 6 facial cleft' SubClassOf 'Oblique facial cleft' 'Tessier number 6 facial cleft' SubClassOf 'Oblique facial cleft' http://www.ebi.ac.uk/efo/EFO_1001089 partial motor epilepsy 'partial motor epilepsy' SubClassOf 'partial epilepsy' 'partial motor epilepsy' SubClassOf 'partial epilepsy' http://www.ebi.ac.uk/efo/EFO_1001088 pars planitis 'pars planitis' SubClassOf 'intermediate uveitis' 'pars planitis' SubClassOf 'intermediate uveitis' 'pars planitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004674 'pars planitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002970 http://www.ebi.ac.uk/efo/EFO_1001087 parathyroid adenoma 'parathyroid adenoma' SubClassOf 'benign neoplasm' 'parathyroid adenoma' SubClassOf 'benign neoplasm' 'parathyroid adenoma' SubClassOf 'has_disease_location' some ('parathyroid' or ('part_of' some 'parathyroid')) 'parathyroid adenoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0036976 'parathyroid adenoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021463 'parathyroid adenoma' SubClassOf 'adenoma' http://www.orpha.net/ORDO/Orphanet_238666 Isolated congenital hypogonadotropic hypogonadism 'Isolated congenital hypogonadotropic hypogonadism' SubClassOf 'Congenital hypogonadotropic hypogonadism' 'Isolated congenital hypogonadotropic hypogonadism' SubClassOf 'Rare female infertility due to a congenital hypogonadotropic hypogonadism' 'Isolated congenital hypogonadotropic hypogonadism' SubClassOf 'Congenital hypogonadotropic hypogonadism' 'Isolated congenital hypogonadotropic hypogonadism' SubClassOf 'Rare female infertility due to a congenital hypogonadotropic hypogonadism' 'Isolated congenital hypogonadotropic hypogonadism' EquivalentTo 'Congenital hypogonadotropic hypogonadism' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021128) 'Isolated congenital hypogonadotropic hypogonadism' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021128 http://www.orpha.net/ORDO/Orphanet_155899 Mandibulofacial dysostosis 'Mandibulofacial dysostosis' SubClassOf 'Otomandibular dysplasia' 'Mandibulofacial dysostosis' SubClassOf 'Otomandibular dysplasia' http://www.orpha.net/ORDO/Orphanet_155896 Otomandibular dysplasia 'Otomandibular dysplasia' SubClassOf 'Rare otorhinolaryngological malformation' 'Otomandibular dysplasia' SubClassOf 'Rare otorhinolaryngological malformation' 'Otomandibular dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019038 'Otomandibular dysplasia' SubClassOf 'Genetic head and neck malformation' http://www.ebi.ac.uk/efo/EFO_1001097 periarthritis 'periarthritis' SubClassOf 'arthritis' 'periarthritis' SubClassOf 'arthritis' 'periarthritis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002471 http://www.ebi.ac.uk/efo/EFO_1001096 periapical granuloma 'periapical granuloma' SubClassOf 'periodontitis' 'periapical granuloma' SubClassOf 'periodontitis' 'periapical granuloma' SubClassOf 'participates_in' some 'inflammatory response' 'periapical granuloma' SubClassOf 'Periapical Periodontitis' http://www.ebi.ac.uk/efo/EFO_1001095 peptic esophagitis 'peptic esophagitis' SubClassOf 'esophageal disease' 'peptic esophagitis' SubClassOf 'digestive system disease' 'peptic esophagitis' SubClassOf 'has_disease_location' some ('esophagus' or ('part_of' some 'esophagus')) 'peptic esophagitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004247 'peptic esophagitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001409 'peptic esophagitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044782 http://www.ebi.ac.uk/efo/EFO_1001094 penile neoplasm 'penile neoplasm' SubClassOf 'urogenital neoplasm' 'penile neoplasm' SubClassOf 'male reproductive system disease' 'penile neoplasm' SubClassOf 'reproductive system neoplasm' 'penile neoplasm' SubClassOf 'has_disease_location' some ('penis' or ('part_of' some 'penis')) 'penile neoplasm' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002036 'penile neoplasm' SubClassOf 'reproductive system neoplasm' 'penile neoplasm' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024582 http://www.ebi.ac.uk/efo/EFO_1001093 Pelger-Huet anomaly 'Pelger-Huet anomaly' SubClassOf 'genetic disorder' 'Pelger-Huet anomaly' SubClassOf 'genetic disorder' 'Pelger-Huet anomaly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021106 'Pelger-Huet anomaly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 http://purl.obolibrary.org/obo/UBERON_0001601 extra-ocular muscle 'extra-ocular muscle' SubClassOf 'develops_from' some 'primordium' 'extra-ocular muscle' SubClassOf 'develops_from' some 'musculature of body' 'extra-ocular muscle' SubClassOf 'develops_from' some 'mesenchyme derived from head neural crest' 'extra-ocular muscle' SubClassOf 'develops_from' some 'eye' 'extra-ocular muscle' SubClassOf 'part_of' some 'eye' 'extra-ocular muscle' SubClassOf 'develops_from' some 'presomitic mesoderm' http://www.ebi.ac.uk/efo/EFO_1001092 patellofemoral pain syndrome 'patellofemoral pain syndrome' SubClassOf 'joint disease' 'patellofemoral pain syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044967 'patellofemoral pain syndrome' SubClassOf 'joint disease' http://www.ebi.ac.uk/efo/EFO_1001091 Pasteurella hemorrhagic septicemia 'Pasteurella hemorrhagic septicemia' SubClassOf 'bacterial disease' 'Pasteurella hemorrhagic septicemia' SubClassOf 'bacterial disease' 'Pasteurella hemorrhagic septicemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0040998 'Pasteurella hemorrhagic septicemia' SubClassOf 'bacteriemia' http://www.ebi.ac.uk/efo/EFO_1001090 partial sensory epilepsy 'partial sensory epilepsy' SubClassOf 'partial epilepsy' 'partial sensory epilepsy' SubClassOf 'partial epilepsy' http://www.orpha.net/ORDO/Orphanet_141276 Commissural facial cleft 'Commissural facial cleft' SubClassOf 'Lateral facial cleft' 'Commissural facial cleft' SubClassOf 'Lateral facial cleft' http://www.ebi.ac.uk/efo/EFO_1001099 perinephritis 'perinephritis' SubClassOf 'kidney disease' 'perinephritis' SubClassOf 'connective tissue disease' 'perinephritis' SubClassOf 'kidney disease' 'perinephritis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021166 http://www.ebi.ac.uk/efo/EFO_1001098 pericoronitis 'pericoronitis' SubClassOf 'periodontitis' 'pericoronitis' SubClassOf 'has_disease_location' some ('gingiva' or ('part_of' some 'gingiva')) 'pericoronitis' SubClassOf 'gingival disease' 'pericoronitis' SubClassOf 'periodontitis' 'pericoronitis' SubClassOf 'participates_in' some 'inflammatory response' http://purl.obolibrary.org/obo/GO_0022402 cell cycle process 'cell cycle process' SubClassOf 'part_of' some 'cell cycle' 'cell cycle process' EquivalentTo 'single-organism cellular process' and ('part_of' some 'cell cycle') http://www.orpha.net/ORDO/Orphanet_238642 Primary megaureter, adult-onset form 'Primary megaureter, adult-onset form' SubClassOf 'Congenital primary megaureter' 'Primary megaureter, adult-onset form' SubClassOf 'Congenital primary megaureter' http://www.orpha.net/ORDO/Orphanet_238646 Congenital primary megaureter, obstructed form 'Congenital primary megaureter, obstructed form' SubClassOf 'Congenital primary megaureter' 'Congenital primary megaureter, obstructed form' SubClassOf 'Congenital primary megaureter' http://purl.obolibrary.org/obo/UBERON_0001464 hip 'hip' SubClassOf 'part_of' some 'abdomen' http://purl.obolibrary.org/obo/UBERON_0001465 knee 'knee' SubClassOf 'part_of' some 'hindlimb' http://purl.obolibrary.org/obo/UBERON_0001461 elbow 'elbow' SubClassOf 'part_of' some 'forelimb' http://www.ebi.ac.uk/efo/EFO_1001204 sweat gland neoplasm 'sweat gland neoplasm' SubClassOf 'skin neoplasm' 'sweat gland neoplasm' SubClassOf 'skin neoplasm' 'sweat gland neoplasm' EquivalentTo 'neoplasm' and ('has_disease_location' some 'sweat gland') 'sweat gland neoplasm' SubClassOf 'has_disease_location' some ('sweat gland' or ('part_of' some 'sweat gland')) 'sweat gland neoplasm' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002297 'sweat gland neoplasm' SubClassOf 'sweat gland disease' http://www.ebi.ac.uk/efo/EFO_1001203 suppurative uveitis 'suppurative uveitis' SubClassOf 'uveitis' 'suppurative uveitis' SubClassOf 'uveitis' http://www.ebi.ac.uk/efo/EFO_1001202 suppurative periapical periodontitis 'suppurative periapical periodontitis' SubClassOf 'periodontitis' 'suppurative periapical periodontitis' SubClassOf 'periodontitis' 'suppurative periapical periodontitis' SubClassOf 'Periapical Periodontitis' 'suppurative periapical periodontitis' SubClassOf 'has_disease_location' some ('tooth' or ('part_of' some 'tooth')) 'suppurative periapical periodontitis' SubClassOf 'participates_in' some 'inflammatory response' http://www.ebi.ac.uk/efo/EFO_1001201 superior mesenteric artery syndrome 'superior mesenteric artery syndrome' SubClassOf 'duodenal obstruction' 'superior mesenteric artery syndrome' SubClassOf 'duodenal obstruction' http://www.ebi.ac.uk/efo/EFO_1001200 sulfhemoglobinemia 'sulfhemoglobinemia' SubClassOf 'hematologic disease' 'sulfhemoglobinemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003804 http://www.ebi.ac.uk/efo/EFO_1001209 temporal arteritis 'temporal arteritis' SubClassOf 'Arteritis' 'temporal arteritis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003346 'temporal arteritis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015488 'temporal arteritis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002341 'temporal arteritis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019724 'temporal arteritis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0005042 http://www.ebi.ac.uk/efo/EFO_1001208 tarsal tunnel syndrome 'tarsal tunnel syndrome' SubClassOf 'tibial neuropathy' 'tarsal tunnel syndrome' SubClassOf 'tibial neuropathy' 'tarsal tunnel syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 http://www.ebi.ac.uk/efo/EFO_1001207 systolic heart failure 'systolic heart failure' SubClassOf 'congestive heart failure' 'systolic heart failure' SubClassOf 'congestive heart failure' http://www.ebi.ac.uk/efo/EFO_1001206 syphilitic aortitis 'syphilitic aortitis' SubClassOf 'syphilis' 'syphilitic aortitis' SubClassOf 'has_disease_location' some ('aorta' or ('part_of' some 'aorta')) 'syphilitic aortitis' SubClassOf 'syphilis' http://www.ebi.ac.uk/efo/EFO_1001205 sympathetic ophthalmia 'sympathetic ophthalmia' SubClassOf 'panuveitis' 'sympathetic ophthalmia' SubClassOf 'panuveitis' 'sympathetic ophthalmia' SubClassOf 'has_disease_location' some ('eye' or ('part_of' some 'eye')) 'sympathetic ophthalmia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017634 http://purl.obolibrary.org/obo/UBERON_0001476 deltoid 'deltoid' SubClassOf 'animal component' 'deltoid' SubClassOf 'develops_from' some 'presomitic mesoderm' 'deltoid' SubClassOf http://purl.obolibrary.org/obo/UBERON_0001482 'deltoid' SubClassOf http://purl.obolibrary.org/obo/UBERON_0034908 'deltoid' SubClassOf 'part_of' some 'musculature of body' 'deltoid' SubClassOf 'part_of' some 'shoulder' http://purl.obolibrary.org/obo/UBERON_0001473 lymphatic vessel 'lymphatic vessel' SubClassOf 'animal component' 'lymphatic vessel' DisjointWith 'blood vessel' 'lymphatic vessel' SubClassOf 'vessel' 'lymphatic vessel' SubClassOf 'part_of' some 'cardiovascular system' http://purl.obolibrary.org/obo/UBERON_0001474 bone 'skeletal joint' DisjointWith 'bone' 'skeletal system' DisjointWith 'bone' http://www.orpha.net/ORDO/Orphanet_50815 Branchiogenic deafness syndrome 'Branchiogenic deafness syndrome' SubClassOf 'Syndromic genetic deafness' 'Branchiogenic deafness syndrome' SubClassOf 'Syndromic genetic deafness' 'Branchiogenic deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007 http://www.ebi.ac.uk/efo/EFO_1001215 obsolete_tooth ankylosis 'obsolete_tooth ankylosis' SubClassOf 'obsolete class' 'obsolete_tooth ankylosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_50812 Zellweger-like syndrome without peroxisomal anomalies 'Zellweger-like syndrome without peroxisomal anomalies' SubClassOf 'Mitochondrial oxidative phosphorylation disorder with no known mechanism' 'Zellweger-like syndrome without peroxisomal anomalies' SubClassOf 'Syndromic neurometabolic disease with non-X-linked intellectual disability' 'Zellweger-like syndrome without peroxisomal anomalies' SubClassOf 'Mitochondrial oxidative phosphorylation disorder with no known mechanism' 'Zellweger-like syndrome without peroxisomal anomalies' SubClassOf 'Syndromic neurometabolic disease with non-X-linked intellectual disability' 'Zellweger-like syndrome without peroxisomal anomalies' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Zellweger-like syndrome without peroxisomal anomalies' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'Zellweger syndrome' http://www.ebi.ac.uk/efo/EFO_1001214 tonsil cancer 'tonsil cancer' SubClassOf 'carcinoma' 'tonsil cancer' SubClassOf 'digestive system disease' 'tonsil cancer' SubClassOf 'respiratory system neoplasm' 'tonsil cancer' SubClassOf 'carcinoma' 'tonsil cancer' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021250 'tonsil cancer' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004685 'tonsil cancer' SubClassOf 'has_disease_location' some ('tonsil' or ('part_of' some 'tonsil')) http://www.orpha.net/ORDO/Orphanet_50811 Lipodystrophy - intellectual disability - deafness 'Lipodystrophy - intellectual disability - deafness' SubClassOf 'Primary bone dysplasia with defective bone mineralization' 'Lipodystrophy - intellectual disability - deafness' SubClassOf 'Syndromic genetic deafness' 'Lipodystrophy - intellectual disability - deafness' SubClassOf 'Genetic lipodystrophy' 'Lipodystrophy - intellectual disability - deafness' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 'Lipodystrophy - intellectual disability - deafness' SubClassOf 'Primary bone dysplasia with defective bone mineralization' 'Lipodystrophy - intellectual disability - deafness' SubClassOf 'Developmental anomaly of metabolic origin' 'Lipodystrophy - intellectual disability - deafness' SubClassOf 'Syndromic genetic deafness' 'Lipodystrophy - intellectual disability - deafness' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015333 'Lipodystrophy - intellectual disability - deafness' SubClassOf 'Genetic lipodystrophy' http://www.ebi.ac.uk/efo/EFO_1001213 tibial neuropathy 'tibial neuropathy' SubClassOf 'mononeuropathy' 'tibial neuropathy' SubClassOf 'has_disease_location' some ('tibial nerve' or ('part_of' some 'tibial nerve')) 'tibial neuropathy' SubClassOf 'mononeuropathy' http://www.orpha.net/ORDO/Orphanet_50814 Craniolenticulosutural dysplasia 'Craniolenticulosutural dysplasia' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Craniolenticulosutural dysplasia' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.ebi.ac.uk/efo/EFO_1001212 thyroid crisis 'thyroid crisis' SubClassOf 'thyroid disease' 'thyroid crisis' SubClassOf 'thyroid disease' 'thyroid crisis' SubClassOf 'Hyperthyroidism' 'thyroid crisis' SubClassOf 'has_disease_location' some ('thyroid gland' or ('part_of' some 'thyroid gland')) http://www.ebi.ac.uk/efo/EFO_1001211 thromboangiitis obliterans 'thromboangiitis obliterans' SubClassOf 'peripheral vascular disease' 'thromboangiitis obliterans' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019724 'thromboangiitis obliterans' SubClassOf 'peripheral vascular disease' 'thromboangiitis obliterans' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015489 http://www.ebi.ac.uk/efo/EFO_1001210 tethered spinal cord syndrome 'tethered spinal cord syndrome' SubClassOf 'genetic disorder' 'tethered spinal cord syndrome' SubClassOf 'central nervous system disease' 'tethered spinal cord syndrome' SubClassOf 'spinal cord disease' 'tethered spinal cord syndrome' SubClassOf 'genetic disorder' 'tethered spinal cord syndrome' SubClassOf 'has_disease_location' some ('spinal cord' or ('part_of' some 'spinal cord')) 'tethered spinal cord syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 http://www.orpha.net/ORDO/Orphanet_50810 Microlissencephaly - micromelia 'Microlissencephaly - micromelia' SubClassOf 'Cerebral malformation with epilepsy' 'Microlissencephaly - micromelia' SubClassOf 'Cerebral malformation with epilepsy' 'Microlissencephaly - micromelia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 http://www.ebi.ac.uk/efo/EFO_0000710 obsolete_strain 'obsolete_strain' SubClassOf 'obsolete class' 'obsolete_strain' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000711 obsolete_strain factor 'obsolete_strain factor' SubClassOf 'obsolete class' 'obsolete_strain factor' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000712 stroke 'stroke' SubClassOf 'cerebrovascular disorder' 'stroke' SubClassOf 'has_disease_location' some 'brain blood vessel' 'stroke' SubClassOf 'disease has feature' some http://purl.obolibrary.org/obo/MONDO_0100035 'stroke' SubClassOf 'cerebrovascular disorder' http://www.ebi.ac.uk/efo/EFO_0000713 subarachnoid hemorrhage 'subarachnoid hemorrhage' SubClassOf 'brain disease' 'subarachnoid hemorrhage' SubClassOf 'has_disease_location' some 'brain blood vessel' http://purl.obolibrary.org/obo/PATO_0001162 increased concentration 'increased concentration' EquivalentTo 'concentrated' and (http://purl.obolibrary.org/obo/pato#increased_in_magnitude_relative_to some 'normal') 'increased concentration' SubClassOf http://purl.obolibrary.org/obo/pato#increased_in_magnitude_relative_to some 'normal' http://www.ebi.ac.uk/efo/EFO_1001219 trigeminal neuralgia 'trigeminal neuralgia' SubClassOf 'neuralgia' 'trigeminal neuralgia' SubClassOf 'trigeminal nerve disease' 'trigeminal neuralgia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016374 'trigeminal neuralgia' SubClassOf 'trigeminal nerve disease' 'trigeminal neuralgia' SubClassOf 'has_disease_location' some ('trigeminal nerve' or ('part_of' some 'trigeminal nerve')) http://purl.obolibrary.org/obo/PATO_0001163 decreased concentration 'decreased concentration' EquivalentTo 'concentrated' and (http://purl.obolibrary.org/obo/pato#decreased_in_magnitude_relative_to some 'normal') 'decreased concentration' SubClassOf http://purl.obolibrary.org/obo/pato#decreased_in_magnitude_relative_to some 'normal' http://www.ebi.ac.uk/efo/EFO_0000716 obsolete_syndrome 'obsolete_syndrome' SubClassOf 'obsolete class' 'obsolete_syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001218 tricuspid valve prolapse 'tricuspid valve prolapse' SubClassOf 'tricuspid valve disease' 'tricuspid valve prolapse' SubClassOf 'aortic disease' 'tricuspid valve prolapse' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020289 http://www.ebi.ac.uk/efo/EFO_0000717 systemic scleroderma 'systemic scleroderma' SubClassOf 'immune system disease' 'systemic scleroderma' SubClassOf 'skin disease' 'systemic scleroderma' SubClassOf 'scleroderma' 'systemic scleroderma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019724 'systemic scleroderma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017841 'systemic scleroderma' SubClassOf 'has_disease_location' some 'zone of skin' 'systemic scleroderma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015118 'systemic scleroderma' SubClassOf 'scleroderma' 'systemic scleroderma' SubClassOf 'Non-familial restrictive cardiomyopathy' 'systemic scleroderma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0030701 http://www.ebi.ac.uk/efo/EFO_1001217 Treponema infectious disease 'Treponema infectious disease' SubClassOf 'bacterial sexually transmitted disease' 'Treponema infectious disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021678 http://www.ebi.ac.uk/efo/EFO_0000718 exposure temperature 'exposure temperature' SubClassOf 'is_about' some 'temperature' http://www.ebi.ac.uk/efo/EFO_1001216 tooth disease 'tooth disease' SubClassOf 'mouth disease' 'tooth disease' SubClassOf 'skeletal system disease' 'tooth disease' SubClassOf 'has_disease_location' some ('tooth' or ('part_of' some 'tooth')) 'tooth disease' SubClassOf 'mouth disease' http://purl.obolibrary.org/obo/UBERON_0000152 pelvic fin 'pelvic fin' SubClassOf 'fin' 'pelvic fin' SubClassOf 'develops_from' some 'embryonic structure' 'pelvic fin' SubClassOf http://purl.obolibrary.org/obo/UBERON_0002534 'pelvic fin' SubClassOf http://purl.obolibrary.org/obo/UBERON_0004709 http://purl.obolibrary.org/obo/UBERON_0001488 ankle joint 'ankle joint' SubClassOf 'skeleton structure' 'ankle joint' SubClassOf 'part_of' some 'hindlimb' 'ankle joint' SubClassOf http://purl.obolibrary.org/obo/UBERON_0011139 'ankle joint' SubClassOf 'part_of' some 'skeletal system' 'ankle joint' SubClassOf http://purl.obolibrary.org/obo/UBERON_0003840 http://purl.obolibrary.org/obo/UBERON_0000155 theca cell layer 'theca cell layer' SubClassOf 'develops_from' some 'gonad primordium' 'theca cell layer' SubClassOf 'part_of' some 'female reproductive system' 'theca cell layer' SubClassOf 'develops_from' some 'genitourinary system' 'theca cell layer' SubClassOf 'develops_from' some 'anal region' 'theca cell layer' SubClassOf 'develops_from' some 'female reproductive system' http://purl.obolibrary.org/obo/UBERON_0001485 knee joint 'knee joint' SubClassOf 'skeleton structure' 'knee joint' SubClassOf 'part_of' some 'knee' 'knee joint' SubClassOf http://purl.obolibrary.org/obo/UBERON_0003840 'knee joint' SubClassOf 'part_of' some 'skeletal system' 'knee joint' SubClassOf 'develops_from' some 'primordium' 'knee joint' SubClassOf http://purl.obolibrary.org/obo/UBERON_0011139 'knee joint' SubClassOf 'develops_from' some 'knee' http://www.ebi.ac.uk/efo/EFO_1001226 uremia 'uremia' SubClassOf 'kidney disease' 'uremia' SubClassOf 'kidney disease' 'uremia' SubClassOf 'kidney failure' http://purl.obolibrary.org/obo/CLO_0027391 GM15245 'GM15245' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM15245' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_1001225 Ureaplasma urealyticum urethritis 'Ureaplasma urealyticum urethritis' SubClassOf 'bacterial disease' 'Ureaplasma urealyticum urethritis' SubClassOf 'urethritis' 'Ureaplasma urealyticum urethritis' SubClassOf 'bacterial disease' http://www.orpha.net/ORDO/Orphanet_141127 Congenital tracheal stenosis 'Congenital tracheal stenosis' SubClassOf 'Tracheal anomaly' 'Congenital tracheal stenosis' SubClassOf 'Tracheal anomaly' 'Congenital tracheal stenosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018562 http://www.ebi.ac.uk/efo/EFO_1001224 ulnar neuropathy 'ulnar neuropathy' SubClassOf 'mononeuropathy' 'ulnar neuropathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044967 'ulnar neuropathy' SubClassOf 'brachial plexus neuropathy' 'ulnar neuropathy' SubClassOf 'mononeuropathy' http://www.ebi.ac.uk/efo/EFO_1001223 ulcerative proctosigmoiditis 'ulcerative proctosigmoiditis' SubClassOf 'inflammatory bowel disease' 'ulcerative proctosigmoiditis' SubClassOf 'inflammatory bowel disease' http://www.ebi.ac.uk/efo/EFO_1001222 type III hypersensitivity reaction disease 'type III hypersensitivity reaction disease' SubClassOf 'hypersensitivity reaction disease' 'type III hypersensitivity reaction disease' SubClassOf 'type II hypersensitivity reaction disease' http://www.orpha.net/ORDO/Orphanet_98805 Primary dystonia, DYT4 type 'Primary dystonia, DYT4 type' SubClassOf 'Focal, segmental or multifocal dystonia' 'Primary dystonia, DYT4 type' SubClassOf 'Focal, segmental or multifocal dystonia' http://www.ebi.ac.uk/efo/EFO_1001221 twin-to-twin transfusion syndrome 'twin-to-twin transfusion syndrome' SubClassOf 'disease' 'twin-to-twin transfusion syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020006 'twin-to-twin transfusion syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001240 'twin-to-twin transfusion syndrome' SubClassOf 'immune system disease' http://www.ebi.ac.uk/efo/EFO_1001220 trochlear nerve disease 'trochlear nerve disease' SubClassOf 'neuropathy' 'trochlear nerve disease' SubClassOf 'neuropathy' 'trochlear nerve disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003569 'trochlear nerve disease' SubClassOf 'peripheral nervous system disease' http://www.orpha.net/ORDO/Orphanet_98807 Primary dystonia, DYT13 type 'Primary dystonia, DYT13 type' SubClassOf 'Focal, segmental or multifocal dystonia' 'Primary dystonia, DYT13 type' SubClassOf 'Focal, segmental or multifocal dystonia' http://www.orpha.net/ORDO/Orphanet_98806 Primary dystonia, DYT6 type 'Primary dystonia, DYT6 type' SubClassOf 'Generalized isolated dystonia' 'Primary dystonia, DYT6 type' SubClassOf 'Generalized isolated dystonia' http://purl.obolibrary.org/obo/CHEBI_545959 homovanillate (HVA) 'homovanillate (HVA)' SubClassOf 'acid' 'homovanillate (HVA)' SubClassOf 'acid' http://www.ebi.ac.uk/efo/EFO_0000700 integumental cell 'integumental cell' EquivalentTo 'cell type' and ('located_in' some 'integumental system') http://www.ebi.ac.uk/efo/EFO_0000701 skin disease 'skin disease' SubClassOf 'disease' 'skin disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002051 'skin disease' EquivalentTo 'has_disease_location' some 'zone of skin' 'skin disease' DisjointWith 'uninfected' http://www.ebi.ac.uk/efo/EFO_0000702 small cell lung carcinoma 'small cell lung carcinoma' SubClassOf 'lung carcinoma' 'small cell lung carcinoma' SubClassOf 'lung carcinoma' 'small cell lung carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015119 'small cell lung carcinoma' SubClassOf 'small cell carcinoma' 'small cell lung carcinoma' SubClassOf 'pulmonary neuroendocrine tumor' http://purl.obolibrary.org/obo/UBERON_0000160 intestine 'intestine' SubClassOf 'develops_from' some 'endoderm' 'intestine' SubClassOf 'part_of' some 'digestive system' http://www.ebi.ac.uk/efo/EFO_1001229 maculopapular cutaneous mastocytosis 'maculopapular cutaneous mastocytosis' SubClassOf 'cutaneous mastocytosis' 'maculopapular cutaneous mastocytosis' SubClassOf 'cutaneous mastocytosis' http://www.ebi.ac.uk/efo/EFO_0000706 spondyloarthropathy 'spondyloarthropathy' SubClassOf 'immune system disease' 'spondyloarthropathy' SubClassOf 'has_disease_location' some 'vertebral column structure' 'spondyloarthropathy' SubClassOf 'joint disease' 'spondyloarthropathy' SubClassOf 'immune system disease' 'spondyloarthropathy' SubClassOf 'has_disease_location' some 'skeletal joint' http://www.ebi.ac.uk/efo/EFO_1001228 ureterolithiasis 'ureterolithiasis' SubClassOf 'bladder disease' 'ureterolithiasis' SubClassOf 'bladder disease' 'ureterolithiasis' SubClassOf 'has_disease_location' some ('ureter' or ('part_of' some 'ureter')) 'ureterolithiasis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001926 http://www.orpha.net/ORDO/Orphanet_98810 Paroxysmal non-kinesigenic dyskinesia 'Paroxysmal non-kinesigenic dyskinesia' SubClassOf 'Paroxysmal dyskinesia' 'Paroxysmal non-kinesigenic dyskinesia' SubClassOf 'Paroxysmal dyskinesia' http://www.ebi.ac.uk/efo/EFO_0000707 squamous cell carcinoma 'squamous cell carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002532 'squamous cell carcinoma' SubClassOf 'carcinoma' http://www.ebi.ac.uk/efo/EFO_1001227 ureterocele 'ureterocele' SubClassOf 'bladder disease' 'ureterocele' SubClassOf 'bladder disease' 'ureterocele' SubClassOf 'has_disease_location' some ('ureter' or ('part_of' some 'ureter')) 'ureterocele' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003847 'ureterocele' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001926 http://www.orpha.net/ORDO/Orphanet_141118 Nasal encephalocele 'Nasal encephalocele' SubClassOf 'Isolated encephalocele' 'Nasal encephalocele' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015503 'Nasal encephalocele' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 'Nasal encephalocele' SubClassOf 'Isolated encephalocele' http://purl.obolibrary.org/obo/UBERON_0000165 mouth 'mouth' SubClassOf 'part_of' some 'head' 'mouth' SubClassOf 'develops_from' some 'endoderm' 'mouth' SubClassOf 'develops_from' some 'ectoderm' http://www.ebi.ac.uk/efo/EFO_0000708 squamous cell lung carcinoma 'squamous cell lung carcinoma' SubClassOf 'lung carcinoma' 'squamous cell lung carcinoma' SubClassOf 'squamous cell carcinoma' 'squamous cell lung carcinoma' SubClassOf 'lung carcinoma' 'squamous cell lung carcinoma' SubClassOf 'squamous cell carcinoma' 'squamous cell lung carcinoma' SubClassOf 'has_disease_location' some 'lung' http://purl.obolibrary.org/obo/UBERON_0001495 pectoral muscle 'pectoral muscle' SubClassOf 'skeletal muscle organ' 'pectoral muscle' SubClassOf http://purl.obolibrary.org/obo/UBERON_0003830 'pectoral muscle' SubClassOf http://purl.obolibrary.org/obo/UBERON_0008196 http://www.ebi.ac.uk/efo/EFO_1001237 vitamin A deficiency 'vitamin A deficiency' SubClassOf 'nutritional disorder' 'vitamin A deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024298 'vitamin A deficiency' SubClassOf 'nutritional disorder' http://www.ebi.ac.uk/efo/EFO_1001236 viral meningitis 'viral meningitis' SubClassOf 'infectious meningitis' 'viral meningitis' SubClassOf 'aseptic meningitis' 'viral meningitis' SubClassOf 'infectious meningitis' http://www.ebi.ac.uk/efo/EFO_1001235 Vibrio infectious disease 'Vibrio infectious disease' SubClassOf 'bacterial disease' 'Vibrio infectious disease' SubClassOf 'bacterial disease' http://www.ebi.ac.uk/efo/EFO_1001234 vasculogenic impotence 'vasculogenic impotence' SubClassOf 'erectile dysfunction' 'vasculogenic impotence' SubClassOf 'erectile dysfunction' http://www.ebi.ac.uk/efo/EFO_1001233 variant Creutzfeldt-Jakob disease 'variant Creutzfeldt-Jakob disease' SubClassOf 'prion disease' 'variant Creutzfeldt-Jakob disease' SubClassOf 'prion disease' http://www.ebi.ac.uk/efo/EFO_0000730 undifferentiated sarcoma 'undifferentiated sarcoma' SubClassOf 'sarcoma' 'undifferentiated sarcoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002397 http://www.ebi.ac.uk/efo/EFO_1001232 uveoparotid fever 'uveoparotid fever' SubClassOf 'Sarcoidosis' 'uveoparotid fever' SubClassOf 'Sarcoidosis' http://www.ebi.ac.uk/efo/EFO_0000731 uterine fibroid 'uterine fibroid' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001572 'uterine fibroid' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021525 'uterine fibroid' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 'uterine fibroid' SubClassOf 'Genetic soft tissue tumor' 'uterine fibroid' SubClassOf 'Genetic gynecological tumor' 'uterine fibroid' SubClassOf 'fibroma' 'uterine fibroid' SubClassOf 'has_disease_location' some 'uterus' http://www.ebi.ac.uk/efo/EFO_1001231 uveitis 'uveitis' SubClassOf 'eye disease' 'uveitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021166 'uveitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015937 'uveitis' SubClassOf 'eye disease' 'uveitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002661 'uveitis' SubClassOf 'has_disease_location' some ('eye' or ('part_of' some 'eye')) http://www.ebi.ac.uk/efo/EFO_0000732 vehicle role 'vehicle role' SubClassOf 'inheres_in' some 'chemical entity' http://www.ebi.ac.uk/efo/EFO_1001230 uveal cancer 'uveal cancer' SubClassOf 'eye neoplasm' 'uveal cancer' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021225 'uveal cancer' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002236 'uveal cancer' SubClassOf 'eye neoplasm' http://www.ebi.ac.uk/efo/EFO_0000733 obsolete_virus strain 'obsolete_virus strain' SubClassOf 'obsolete class' 'obsolete_virus strain' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000734 vitamin B12 deficiency 'vitamin B12 deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0042976 http://www.ebi.ac.uk/efo/EFO_0000736 well-differentiated liposarcoma 'well-differentiated liposarcoma' SubClassOf 'liposarcoma' 'well-differentiated liposarcoma' SubClassOf 'liposarcoma' 'well-differentiated liposarcoma' SubClassOf 'has_disease_location' some 'adipose tissue' http://www.ebi.ac.uk/efo/EFO_0000737 well-differentiated sarcoma 'well-differentiated sarcoma' SubClassOf 'sarcoma' 'well-differentiated sarcoma' SubClassOf 'sarcoma' 'well-differentiated sarcoma' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0024491 http://www.ebi.ac.uk/efo/EFO_0000738 obsolete_white blood cell 'obsolete_white blood cell' SubClassOf 'obsolete class' 'obsolete_white blood cell' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/CHEBI_5457 glycerophosphoglycerol 'glycerophosphoglycerol' SubClassOf 'phospholipid' 'glycerophosphoglycerol' SubClassOf 'phospholipid' http://www.ebi.ac.uk/efo/EFO_1001239 vulvitis 'vulvitis' SubClassOf 'female reproductive system disease' 'vulvitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021166 'vulvitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002187 'vulvitis' SubClassOf 'has_disease_location' some ('mammalian vulva' or ('part_of' some 'mammalian vulva')) 'vulvitis' SubClassOf 'participates_in' some 'inflammatory response' http://www.ebi.ac.uk/efo/EFO_1001238 vitreous detachment 'vitreous detachment' SubClassOf 'Vitreoretinopathy' 'vitreous detachment' SubClassOf 'Vitreoretinopathy' 'vitreous detachment' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004860 http://www.orpha.net/ORDO/Orphanet_86823 Lissencephaly with cerebellar hypoplasia 'Lissencephaly with cerebellar hypoplasia' SubClassOf 'Lissencephaly' 'Lissencephaly with cerebellar hypoplasia' SubClassOf 'Lissencephaly' http://www.orpha.net/ORDO/Orphanet_86821 Lissencephaly type 3 - familial fetal akinesia sequence 'Lissencephaly type 3 - familial fetal akinesia sequence' SubClassOf 'Lissencephaly type 3' 'Lissencephaly type 3 - familial fetal akinesia sequence' SubClassOf 'Lissencephaly type 3' http://www.orpha.net/ORDO/Orphanet_86822 Lissencephaly type 3 - metacarpal bone dysplasia 'Lissencephaly type 3 - metacarpal bone dysplasia' SubClassOf 'Lissencephaly type 3' 'Lissencephaly type 3 - metacarpal bone dysplasia' SubClassOf 'Lissencephaly type 3' http://www.ebi.ac.uk/efo/EFO_1001240 vulvovaginitis 'vulvovaginitis' SubClassOf 'female reproductive system disease' 'vulvovaginitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002234 'vulvovaginitis' SubClassOf 'has_disease_location' some ('mammalian vulva' or ('part_of' some 'mammalian vulva')) 'vulvovaginitis' SubClassOf 'vulvitis' http://www.orpha.net/ORDO/Orphanet_86820 Familial avascular necrosis of femoral head 'Familial avascular necrosis of femoral head' SubClassOf 'Avascular necrosis of genetic origin' 'Familial avascular necrosis of femoral head' SubClassOf 'Type 2 collagen-related bone disorder' 'Familial avascular necrosis of femoral head' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018379 'Familial avascular necrosis of femoral head' SubClassOf 'Avascular necrosis of genetic origin' 'Familial avascular necrosis of femoral head' SubClassOf 'Type 2 collagen-related bone disorder' 'Familial avascular necrosis of femoral head' SubClassOf http://purl.obolibrary.org/obo/MONDO_0022800 http://purl.obolibrary.org/obo/UBERON_0002769 superior temporal gyrus 'superior temporal gyrus' SubClassOf 'part_of' some 'temporal lobe' http://www.ebi.ac.uk/efo/EFO_1001247 chancre 'chancre' SubClassOf 'syphilis' 'chancre' SubClassOf 'syphilis' http://www.ebi.ac.uk/efo/EFO_1001246 Yersinia pseudotuberculosis infectious disease 'Yersinia pseudotuberculosis infectious disease' SubClassOf 'Yersinia infectious disease' 'Yersinia pseudotuberculosis infectious disease' SubClassOf 'Yersinia infectious disease' http://www.ebi.ac.uk/efo/EFO_1001245 Yersinia infectious disease 'Yersinia infectious disease' SubClassOf 'bacterial disease' 'Yersinia infectious disease' SubClassOf 'bacterial disease' http://www.ebi.ac.uk/efo/EFO_1001244 xanthogranulomatous pyelonephritis 'xanthogranulomatous pyelonephritis' SubClassOf 'pyelonephritis' 'xanthogranulomatous pyelonephritis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001110 'xanthogranulomatous pyelonephritis' SubClassOf 'pyelonephritis' http://www.ebi.ac.uk/efo/EFO_1001243 wheat allergic reaction 'wheat allergic reaction' SubClassOf 'food allergy' 'wheat allergic reaction' SubClassOf 'food allergy' 'wheat allergic reaction' SubClassOf 'allergy' http://www.ebi.ac.uk/efo/EFO_1001242 Wernicke-Korsakoff syndrome 'Wernicke-Korsakoff syndrome' SubClassOf 'nutritional disorder' 'Wernicke-Korsakoff syndrome' SubClassOf 'nutritional disorder' 'Wernicke-Korsakoff syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Wernicke-Korsakoff syndrome' SubClassOf 'nutritional deficiency disease' http://www.ebi.ac.uk/efo/EFO_1001241 Wernicke encephalopathy 'Wernicke encephalopathy' SubClassOf 'brain disease' 'Wernicke encephalopathy' SubClassOf 'brain disease' 'Wernicke encephalopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021698 http://www.ebi.ac.uk/efo/EFO_0000722 obsolete_time before disease progression 'obsolete_time before disease progression' SubClassOf 'obsolete class' 'obsolete_time before disease progression' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000723 obsolete_time to development of distant metastases 'obsolete_time to development of distant metastases' SubClassOf 'obsolete class' 'obsolete_time to development of distant metastases' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_86818 Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis 'Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis' SubClassOf 'X-linked syndromic intellectual disability' 'Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis' SubClassOf 'Partial deletion of the long arm of chromosome X' 'Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003689 'Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000577 'Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis' SubClassOf 'X-linked syndromic intellectual disability' 'Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis' SubClassOf 'Partial deletion of the long arm of chromosome X' http://www.orpha.net/ORDO/Orphanet_86819 Atrichia with papular lesions 'Atrichia with papular lesions' SubClassOf 'Alopecia' 'Atrichia with papular lesions' SubClassOf http://purl.obolibrary.org/obo/MONDO_0007806 http://www.ebi.ac.uk/efo/EFO_0000728 obsolete_tumor 'obsolete_tumor' SubClassOf 'obsolete class' 'obsolete_tumor' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000729 ulcerative colitis 'ulcerative colitis' SubClassOf 'inflammatory bowel disease' 'ulcerative colitis' SubClassOf ('has_disease_location' some 'colon') and ('has_disease_location' only 'colon') 'ulcerative colitis' SubClassOf 'colitis' http://www.ebi.ac.uk/efo/EFO_1001249 non-alcoholic steatohepatitis 'non-alcoholic steatohepatitis' SubClassOf 'non-alcoholic fatty liver disease' 'non-alcoholic steatohepatitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021166 'non-alcoholic steatohepatitis' SubClassOf 'non-alcoholic fatty liver disease' http://www.orpha.net/ORDO/Orphanet_86812 Autosomal recessive limb-girdle muscular dystrophy type 2K 'Autosomal recessive limb-girdle muscular dystrophy type 2K' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'Autosomal recessive limb-girdle muscular dystrophy type 2K' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' 'Autosomal recessive limb-girdle muscular dystrophy type 2K' SubClassOf 'Disorder of O-mannosylglycan synthesis' 'Autosomal recessive limb-girdle muscular dystrophy type 2K' SubClassOf 'Qualitative or quantitative defects of protein O-mannosyltransferase 1' 'Autosomal recessive limb-girdle muscular dystrophy type 2K' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'Autosomal recessive limb-girdle muscular dystrophy type 2K' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' 'Autosomal recessive limb-girdle muscular dystrophy type 2K' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000173 'Autosomal recessive limb-girdle muscular dystrophy type 2K' SubClassOf 'Qualitative or quantitative defects of protein O-mannosyltransferase 1' 'Autosomal recessive limb-girdle muscular dystrophy type 2K' SubClassOf 'Disorder of O-mannosylglycan synthesis' http://www.orpha.net/ORDO/Orphanet_86813 Helicoid peripapillary chorioretinal degeneration 'Helicoid peripapillary chorioretinal degeneration' SubClassOf 'Retinal dystrophy' 'Helicoid peripapillary chorioretinal degeneration' SubClassOf 'Retinal dystrophy' http://purl.obolibrary.org/obo/UBERON_0001434 skeletal system 'skeletal system' DisjointWith 'integumental system' 'respiratory system' DisjointWith 'skeletal system' 'skeletal system' DisjointWith 'immune system' 'endocrine system' DisjointWith 'skeletal system' 'gustatory system' DisjointWith 'skeletal system' 'reproductive system' DisjointWith 'skeletal system' 'renal system' DisjointWith 'skeletal system' 'skeletal system' DisjointWith 'hematopoietic system' 'skeletal system' DisjointWith http://purl.obolibrary.org/obo/UBERON_0004456 'digestive system' DisjointWith 'skeletal system' 'skeletal system' DisjointWith http://purl.obolibrary.org/obo/UBERON_0002330 'skeletal system' DisjointWith 'biliary system' 'skeletal system' DisjointWith 'bone' 'skeletal system' DisjointWith 'hepatobiliary system' 'skeletal system' DisjointWith http://purl.obolibrary.org/obo/UBERON_0002204 'circulatory system' DisjointWith 'skeletal system' 'nervous system' DisjointWith 'skeletal system' http://www.orpha.net/ORDO/Orphanet_86816 Congenital analbuminemia 'Congenital analbuminemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020006 'Congenital analbuminemia' SubClassOf 'has_disease_location' some 'serum albumin' http://www.orpha.net/ORDO/Orphanet_86817 Hemolytic anemia due to adenylate kinase deficiency 'Hemolytic anemia due to adenylate kinase deficiency' SubClassOf 'Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder' 'Hemolytic anemia due to adenylate kinase deficiency' SubClassOf 'Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder' http://www.orpha.net/ORDO/Orphanet_86814 Benign adult familial myoclonic epilepsy 'Benign adult familial myoclonic epilepsy' SubClassOf 'Primary myoclonus' 'Benign adult familial myoclonic epilepsy' SubClassOf 'Adolescent-onset epilepsy syndrome' 'Benign adult familial myoclonic epilepsy' SubClassOf 'Primary myoclonus' 'Benign adult familial myoclonic epilepsy' SubClassOf 'Adolescent-onset epilepsy syndrome' http://www.orpha.net/ORDO/Orphanet_86815 Aplasia of lacrimal and salivary glands 'Aplasia of lacrimal and salivary glands' SubClassOf 'Excretory apparatus of the lacrimal system anomaly' 'Aplasia of lacrimal and salivary glands' SubClassOf 'Excretory apparatus of the lacrimal system anomaly' http://www.ebi.ac.uk/efo/EFO_1001251 obsolete_branchio-oto-renal syndrome 'obsolete_branchio-oto-renal syndrome' SubClassOf 'obsolete class' 'obsolete_branchio-oto-renal syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_307052 Rare genetic parkinsonian disorder 'Rare genetic parkinsonian disorder' SubClassOf 'Rare genetic tremor disorder' http://www.ebi.ac.uk/efo/EFO_1001250 rotator cuff tear 'rotator cuff tear' SubClassOf 'muscular disease' 'rotator cuff tear' SubClassOf 'muscular disease' http://purl.obolibrary.org/obo/UBERON_0000115 lung epithelium 'lung epithelium' SubClassOf 'epithelium' 'lung epithelium' SubClassOf http://purl.obolibrary.org/obo/UBERON_0004815 'lung epithelium' SubClassOf 'part_of' some 'lung' 'lung epithelium' EquivalentTo 'epithelium' and ('part_of' some 'lung') http://purl.obolibrary.org/obo/UBERON_0001446 fibula 'fibula' SubClassOf 'bone of lower extremity' 'fibula' SubClassOf 'develops_from' some 'hindlimb' 'fibula' SubClassOf 'part_of' some 'hindlimb' 'fibula' SubClassOf http://purl.obolibrary.org/obo/UBERON_0004251 'fibula' SubClassOf http://purl.obolibrary.org/obo/UBERON_0003608 'fibula' SubClassOf 'develops_from' some 'zeugopod' 'fibula' SubClassOf 'part_of' some 'zeugopod' http://www.orpha.net/ORDO/Orphanet_308386 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A' SubClassOf 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency' 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A' SubClassOf 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency' http://www.orpha.net/ORDO/Orphanet_307055 Rare parkinsonian syndrome due to genetic neurodegenerative disease 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' SubClassOf 'neurodegenerative disease' 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0017635 and (http://purl.obolibrary.org/obo/RO_0004022 some 'Genetic neurodegenerative disease') 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' SubClassOf 'Genetic neurodegenerative disease' 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' SubClassOf 'realized_in' some ('disease course' and ('has part' some 'neurodegeneration')) 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017635 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004022 some 'Genetic neurodegenerative disease' http://www.ebi.ac.uk/efo/EFO_1001259 Adenoviridae Infections 'Adenoviridae Infections' SubClassOf 'viral disease' 'Adenoviridae Infections' SubClassOf 'viral disease' http://www.ebi.ac.uk/efo/EFO_1001258 Adenomatosis, Pulmonary 'Adenomatosis, Pulmonary' SubClassOf 'neoplasm' 'Adenomatosis, Pulmonary' SubClassOf 'neoplasm' http://www.ebi.ac.uk/efo/EFO_1001257 acute erythroblastic leukemia 'acute erythroblastic leukemia' SubClassOf 'acute myeloid leukemia' 'acute erythroblastic leukemia' SubClassOf 'acute myeloid leukemia' http://www.ebi.ac.uk/efo/EFO_0000750 genotyping 'genotyping' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_1001256 ACTH Syndrome, Ectopic 'ACTH Syndrome, Ectopic' SubClassOf 'endocrine neoplasm' 'ACTH Syndrome, Ectopic' SubClassOf 'endocrine neoplasm' http://www.ebi.ac.uk/efo/EFO_0000751 methylation profiling 'methylation profiling' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_1001255 spontaneous abortion 'spontaneous abortion' SubClassOf 'abortion' 'spontaneous abortion' SubClassOf 'abortion' http://www.orpha.net/ORDO/Orphanet_308380 Methylcobalamin deficiency type cblDv1 'Methylcobalamin deficiency type cblDv1' SubClassOf 'Homocystinuria without methylmalonic aciduria' 'Methylcobalamin deficiency type cblDv1' SubClassOf 'Homocystinuria without methylmalonic aciduria' http://www.ebi.ac.uk/efo/EFO_1001254 noise-induced hearing loss 'noise-induced hearing loss' SubClassOf 'sensorineural hearing loss' 'noise-induced hearing loss' SubClassOf 'hearing loss' 'noise-induced hearing loss' SubClassOf 'hearing loss' 'noise-induced hearing loss' SubClassOf 'sensorineural hearing loss' 'noise-induced hearing loss' SubClassOf http://purl.obolibrary.org/obo/MONDO_0037940 http://www.ebi.ac.uk/efo/EFO_0000753 microRNA profiling by array 'microRNA profiling by array' SubClassOf 'has_participant' some 'DNA array' 'microRNA profiling by array' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0000754 obsolete_re-sequencing 'obsolete_re-sequencing' SubClassOf 'obsolete class' 'obsolete_re-sequencing' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001252 gastric cardia carcinoma 'gastric cardia carcinoma' SubClassOf 'gastric carcinoma' 'gastric cardia carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001063 'gastric cardia carcinoma' SubClassOf 'gastric carcinoma' http://www.ebi.ac.uk/efo/EFO_0000755 obsolete_colorectal carcinoma 'obsolete_colorectal carcinoma' SubClassOf 'obsolete class' 'obsolete_colorectal carcinoma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000756 melanoma 'melanoma' SubClassOf 'neuroendocrine neoplasm' 'melanoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021143 'melanoma' SubClassOf 'has_disease_location' some 'zone of skin' http://www.ebi.ac.uk/efo/EFO_0000757 obsolete_muscular dystrophy 'obsolete_muscular dystrophy' SubClassOf 'obsolete class' 'obsolete_muscular dystrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000758 obsolete_limb-girdle muscular dystrophy 'obsolete_limb-girdle muscular dystrophy' SubClassOf 'obsolete class' 'obsolete_limb-girdle muscular dystrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000759 lipoma 'lipoma' SubClassOf 'benign neoplasm' 'lipoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044983 http://purl.obolibrary.org/obo/UBERON_0001443 chest 'chest' SubClassOf 'part_of' some 'trunk' http://www.orpha.net/ORDO/Orphanet_307058 Miscellaneous movement disorder due to genetic neurodegenerative disease 'Miscellaneous movement disorder due to genetic neurodegenerative disease' SubClassOf 'neurodegenerative disease' 'Miscellaneous movement disorder due to genetic neurodegenerative disease' SubClassOf 'realized_in' some ('disease course' and ('has part' some 'neurodegeneration')) 'Miscellaneous movement disorder due to genetic neurodegenerative disease' SubClassOf 'Genetic neurodegenerative disease' 'Miscellaneous movement disorder due to genetic neurodegenerative disease' SubClassOf 'Rare genetic tremor disorder' 'Miscellaneous movement disorder due to genetic neurodegenerative disease' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0017641 and (http://purl.obolibrary.org/obo/RO_0004022 some 'Genetic neurodegenerative disease') 'Miscellaneous movement disorder due to genetic neurodegenerative disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004022 some 'Genetic neurodegenerative disease' 'Miscellaneous movement disorder due to genetic neurodegenerative disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017641 http://purl.obolibrary.org/obo/UBERON_0002771 middle temporal gyrus 'middle temporal gyrus' SubClassOf 'part_of' some 'temporal lobe' http://www.ebi.ac.uk/efo/EFO_1001262 Alternariosis 'Alternariosis' SubClassOf 'skin disease' 'Alternariosis' SubClassOf 'skin disease' http://www.ebi.ac.uk/efo/EFO_1001261 Alien Hand Syndrome 'Alien Hand Syndrome' SubClassOf 'nervous system disease' 'Alien Hand Syndrome' SubClassOf 'nervous system disease' http://www.orpha.net/ORDO/Orphanet_307064 Rare genetic myoclonus 'Rare genetic myoclonus' SubClassOf 'Rare genetic tremor disorder' http://www.ebi.ac.uk/efo/EFO_1001260 alcoholic psychosis 'alcoholic psychosis' SubClassOf 'psychosis' 'alcoholic psychosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021698 'alcoholic psychosis' SubClassOf 'psychosis' 'alcoholic psychosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002326 http://www.orpha.net/ORDO/Orphanet_307061 Rare genetic tremor disorder 'Rare genetic tremor disorder' SubClassOf 'Rare genetic movement disorder' 'Rare genetic tremor disorder' SubClassOf 'Rare genetic neurological disorder' 'Rare genetic tremor disorder' SubClassOf 'movement disorder' 'Rare genetic tremor disorder' EquivalentTo 'movement disorder' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) http://www.orpha.net/ORDO/Orphanet_308393 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B' SubClassOf 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency' 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B' SubClassOf 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency' http://www.orpha.net/ORDO/Orphanet_307067 Rare genetic disease with myoclonus as a major feature 'Rare genetic disease with myoclonus as a major feature' SubClassOf 'Rare genetic tremor disorder' http://www.ebi.ac.uk/efo/EFO_1001269 Arbovirus Infections 'Arbovirus Infections' SubClassOf 'viral disease' 'Arbovirus Infections' SubClassOf 'viral disease' http://www.ebi.ac.uk/efo/EFO_1001268 Aortic Rupture 'Aortic Rupture' SubClassOf 'aortic disease' 'Aortic Rupture' SubClassOf 'aortic disease' http://www.ebi.ac.uk/efo/EFO_1001267 Aortic Coarctation 'Aortic Coarctation' SubClassOf 'aortic disease' 'Aortic Coarctation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020286 'Aortic Coarctation' SubClassOf 'aortic disease' 'Aortic Coarctation' SubClassOf 'Genetic vascular anomaly' http://www.ebi.ac.uk/efo/EFO_1001266 Aniseikonia 'Aniseikonia' SubClassOf 'eye disease' 'Aniseikonia' SubClassOf 'eye disease' 'Aniseikonia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004892 http://www.ebi.ac.uk/efo/EFO_1001265 Aneurysm, False 'Aneurysm, False' SubClassOf 'vascular disease' 'Aneurysm, False' SubClassOf 'vascular disease' http://www.ebi.ac.uk/efo/EFO_1001264 Anemia, Hemolytic, Autoimmune 'Anemia, Hemolytic, Autoimmune' SubClassOf 'immune system disease' 'hemolytic anemia' DisjointWith 'Anemia, Hemolytic, Autoimmune' 'Anemia, Hemolytic, Autoimmune' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004139 'Anemia, Hemolytic, Autoimmune' SubClassOf 'immune system disease' 'Anemia, Hemolytic, Autoimmune' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000602 http://www.ebi.ac.uk/efo/EFO_1001263 amniotic fluid embolism 'amniotic fluid embolism' SubClassOf 'cardiovascular disease' 'amniotic fluid embolism' SubClassOf 'cardiovascular disease' http://www.ebi.ac.uk/efo/EFO_0000746 proteomic profiling 'proteomic profiling' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'protein')) http://www.ebi.ac.uk/efo/EFO_0000747 antigen profiling 'antigen profiling' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'protein')) http://www.ebi.ac.uk/efo/EFO_0000748 ChIP-Chip 'ChIP-Chip' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0000749 comparative genomic hybridization by array 'comparative genomic hybridization by array' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'comparative genomic hybridization by array' SubClassOf 'has_participant' some 'DNA array' http://purl.obolibrary.org/obo/CLO_0014025 GM17172 'GM17172' SubClassOf 'has_quality' some 'female' 'GM17172' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17172' SubClassOf 'cultured cell' http://purl.obolibrary.org/obo/CLO_0016688 GM17789 'GM17789' SubClassOf 'cultured cell' 'GM17789' SubClassOf 'has_quality' some 'male' 'GM17789' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0009103 theory of mind measurement 'theory of mind measurement' SubClassOf 'psychological measurement' 'theory of mind measurement' SubClassOf 'psychological measurement' 'theory of mind measurement' SubClassOf 'is_about' some 'mental process' http://purl.obolibrary.org/obo/CLO_0014026 GM17173 'GM17173' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17173' SubClassOf 'cultured cell' 'GM17173' SubClassOf 'has_quality' some 'female' http://purl.obolibrary.org/obo/CLO_0016687 GM17790 'GM17790' SubClassOf 'has_quality' some 'male' 'GM17790' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17790' SubClassOf 'cultured cell' http://www.orpha.net/ORDO/Orphanet_2078 Geroderma osteodysplastica 'Geroderma osteodysplastica' SubClassOf 'Cutis laxa' 'Geroderma osteodysplastica' SubClassOf 'Primary bone dysplasia with decreased bone density' 'Geroderma osteodysplastica' SubClassOf 'Cutis laxa' 'Geroderma osteodysplastica' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 'Geroderma osteodysplastica' SubClassOf 'Primary bone dysplasia with decreased bone density' http://www.orpha.net/ORDO/Orphanet_2077 German syndrome 'German syndrome' SubClassOf 'Syndromic lymphedema' 'German syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0009332 'German syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016009 'German syndrome' SubClassOf 'Syndromic lymphedema' 'German syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018722 http://purl.obolibrary.org/obo/CLO_0014028 GM17179 'GM17179' SubClassOf 'has_quality' some 'female' 'GM17179' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17179' SubClassOf 'cultured cell' http://www.orpha.net/ORDO/Orphanet_2076 X-linked intellectual disability - epilepsy 'X-linked intellectual disability - epilepsy' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability - epilepsy' SubClassOf 'Monogenic disease with epilepsy' 'X-linked intellectual disability - epilepsy' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability - epilepsy' SubClassOf 'Monogenic disease with epilepsy' http://purl.obolibrary.org/obo/CLO_0014029 GM17178 'GM17178' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17178' SubClassOf 'has_quality' some 'female' 'GM17178' SubClassOf 'cultured cell' http://www.orpha.net/ORDO/Orphanet_2075 Genito-palato-cardiac syndrome 'Genito-palato-cardiac syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Genito-palato-cardiac syndrome' SubClassOf 'Orofacial clefting syndrome' 'Genito-palato-cardiac syndrome' SubClassOf 'Syndrome with 46,XY disorder of sex development' 'Genito-palato-cardiac syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Genito-palato-cardiac syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 'Genito-palato-cardiac syndrome' SubClassOf 'Orofacial clefting syndrome' http://www.ebi.ac.uk/efo/EFO_0009100 social domain measurement 'social domain measurement' SubClassOf 'psychological measurement' 'social domain measurement' SubClassOf 'psychological measurement' 'social domain measurement' SubClassOf 'is_about' some 'brain' http://www.ebi.ac.uk/efo/EFO_0009101 age at first birth measurement 'age at first birth measurement' SubClassOf 'reproductive behaviour measurement' 'age at first birth measurement' SubClassOf 'is_about' some 'female reproductive system' 'age at first birth measurement' SubClassOf 'reproductive behaviour measurement' http://www.orpha.net/ORDO/Orphanet_2072 Gaucher disease - ophthalmoplegia - cardiovascular calcification 'Gaucher disease - ophthalmoplegia - cardiovascular calcification' SubClassOf 'Gaucher disease' 'Gaucher disease - ophthalmoplegia - cardiovascular calcification' SubClassOf 'Gaucher disease' http://www.orpha.net/ORDO/Orphanet_98856 Charcot-Marie-Tooth disease type 2B1 'Charcot-Marie-Tooth disease type 2B1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019601 'Charcot-Marie-Tooth disease type 2B1' SubClassOf 'Autosomal dominant Charcot-Marie-Tooth disease type 2' 'Charcot-Marie-Tooth disease type 2B1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021106 http://www.ebi.ac.uk/efo/EFO_0000770 malignant pleural mesothelioma 'malignant pleural mesothelioma' SubClassOf 'mesothelioma' 'malignant pleural mesothelioma' SubClassOf 'respiratory system neoplasm' 'malignant pleural mesothelioma' SubClassOf 'Pleural Mesothelioma' 'malignant pleural mesothelioma' SubClassOf 'has_disease_location' some 'pleura' 'malignant pleural mesothelioma' SubClassOf 'Malignant Mesothelioma' 'malignant pleural mesothelioma' SubClassOf 'Malignant Pleural Neoplasm' http://www.orpha.net/ORDO/Orphanet_98855 Autosomal recessive Emery-Dreifuss muscular dystrophy 'Autosomal recessive Emery-Dreifuss muscular dystrophy' SubClassOf 'Emery-Dreifuss muscular dystrophy' 'Autosomal recessive Emery-Dreifuss muscular dystrophy' SubClassOf 'autosomal recessive disease' 'Autosomal recessive Emery-Dreifuss muscular dystrophy' SubClassOf 'Emery-Dreifuss muscular dystrophy' http://purl.obolibrary.org/obo/CLO_0016682 GM17795 'GM17795' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17795' SubClassOf 'cultured cell' 'GM17795' SubClassOf 'has_quality' some 'female' http://www.ebi.ac.uk/efo/EFO_0000771 bacterial disease 'bacterial disease' SubClassOf 'infectious disease' 'bacterial disease' EquivalentTo 'has_participant' some 'Bacteria' 'bacterial disease' SubClassOf 'infectious disease' http://www.ebi.ac.uk/efo/EFO_0000772 pneumococcal infection 'pneumococcal infection' SubClassOf 'bacterial disease' 'pneumococcal infection' SubClassOf 'streptococcal infection' 'pneumococcal infection' SubClassOf 'has_participant' some 'Streptococcus pneumoniae' http://purl.obolibrary.org/obo/CLO_0016684 GM17783 'GM17783' SubClassOf 'has_quality' some 'female' 'GM17783' SubClassOf 'cultured cell' 'GM17783' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0000773 temporal lobe epilepsy 'temporal lobe epilepsy' SubClassOf 'partial epilepsy' 'temporal lobe epilepsy' SubClassOf 'partial epilepsy' http://purl.obolibrary.org/obo/CLO_0014022 GM17170 'GM17170' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17170' SubClassOf 'cultured cell' 'GM17170' SubClassOf 'has_quality' some 'female' http://www.ebi.ac.uk/efo/EFO_0000774 obsolete_tuberculosis 'obsolete_tuberculosis' SubClassOf 'obsolete class' 'obsolete_tuberculosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/CLO_0016686 GM17785 'GM17785' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17785' SubClassOf 'has_quality' some 'female' 'GM17785' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0000775 Whipple's disease 'Whipple's disease' SubClassOf 'digestive system disease' 'Whipple's disease' SubClassOf 'bacterial disease' 'Whipple's disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043424 'Whipple's disease' SubClassOf 'intestinal disease' 'Whipple's disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017652 'Whipple's disease' SubClassOf 'has_disease_location' some 'digestive system' 'Whipple's disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020010 'Whipple's disease' SubClassOf 'bacterial disease' http://purl.obolibrary.org/obo/CLO_0014024 GM17171 'GM17171' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17171' SubClassOf 'has_quality' some 'female' 'GM17171' SubClassOf 'cultured cell' http://purl.obolibrary.org/obo/CLO_0016685 GM17787 'GM17787' SubClassOf 'has_quality' some 'male' 'GM17787' SubClassOf 'cultured cell' 'GM17787' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/HP_0003429 CNS hypomyelination 'CNS hypomyelination' SubClassOf 'abnormality of the nervous system' 'CNS hypomyelination' SubClassOf 'abnormality of the nervous system' http://www.ebi.ac.uk/efo/EFO_0000776 Aeromonas hydrophila infection 'Aeromonas hydrophila infection' SubClassOf 'bacterial disease' 'Aeromonas hydrophila infection' SubClassOf 'bacterial disease' http://www.ebi.ac.uk/efo/EFO_0000777 human granulocytic anaplasmosis 'human granulocytic anaplasmosis' SubClassOf 'bacterial disease' 'human granulocytic anaplasmosis' SubClassOf 'has_disease_location' some 'neutrophil' 'human granulocytic anaplasmosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0025303 'human granulocytic anaplasmosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004805 'human granulocytic anaplasmosis' SubClassOf 'has_participant' some 'Amblyomma americanum' 'human granulocytic anaplasmosis' SubClassOf 'Arbovirus Infections' 'human granulocytic anaplasmosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016003 http://www.ebi.ac.uk/efo/EFO_0000778 anthrax infection 'anthrax infection' SubClassOf 'bacterial disease' 'anthrax infection' SubClassOf 'primary Bacillaceae infectious disease' 'anthrax infection' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000314 http://www.ebi.ac.uk/efo/EFO_0000779 Drosophila C virus infection 'Drosophila C virus infection' SubClassOf 'viral disease' 'Drosophila C virus infection' SubClassOf 'inheres_in' some 'Drosophila melanogaster' 'Drosophila C virus infection' SubClassOf 'viral disease' http://www.orpha.net/ORDO/Orphanet_98863 X-linked Emery-Dreifuss muscular dystrophy 'X-linked Emery-Dreifuss muscular dystrophy' SubClassOf 'Qualitative or quantitative defects of emerin' 'X-linked Emery-Dreifuss muscular dystrophy' SubClassOf 'Emery-Dreifuss muscular dystrophy' 'X-linked Emery-Dreifuss muscular dystrophy' SubClassOf 'Qualitative or quantitative defects of emerin' 'X-linked Emery-Dreifuss muscular dystrophy' SubClassOf 'X-linked myopathy with postural muscle atrophy' 'X-linked Emery-Dreifuss muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000425 'X-linked Emery-Dreifuss muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021106 http://www.orpha.net/ORDO/Orphanet_96201 X small rings 'X small rings' SubClassOf 'Non-acquired premature ovarian failure' 'X small rings' SubClassOf 'Rare female infertility due to an anomaly of ovarian function of genetic origin' 'X small rings' SubClassOf 'Chromosome X structural anomaly' 'X small rings' SubClassOf 'Non-acquired premature ovarian failure' 'X small rings' SubClassOf 'Rare female infertility due to an anomaly of ovarian function of genetic origin' 'X small rings' SubClassOf 'Chromosome X structural anomaly' http://purl.obolibrary.org/obo/CLO_0014037 GM17177 'GM17177' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17177' SubClassOf 'has_quality' some 'female' 'GM17177' SubClassOf 'cultured cell' http://www.orpha.net/ORDO/Orphanet_2089 Glycogen storage disease due to hepatic glycogen synthase deficiency 'Glycogen storage disease due to hepatic glycogen synthase deficiency' SubClassOf 'Glycogen storage disease due to glycogen synthase deficiency' 'Glycogen storage disease due to hepatic glycogen synthase deficiency' SubClassOf 'Glycogen storage disease due to glycogen synthase deficiency' 'Glycogen storage disease due to hepatic glycogen synthase deficiency' SubClassOf 'liver disease' http://www.orpha.net/ORDO/Orphanet_2088 Glycogen storage disease due to GLUT2 deficiency 'Glycogen storage disease due to GLUT2 deficiency' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'Glycogen storage disease due to GLUT2 deficiency' SubClassOf 'Glucose transport disorder' 'Glycogen storage disease due to GLUT2 deficiency' SubClassOf 'Glycogen storage disease' 'Glycogen storage disease due to GLUT2 deficiency' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'Glycogen storage disease due to GLUT2 deficiency' SubClassOf 'Glucose transport disorder' 'Glycogen storage disease due to GLUT2 deficiency' SubClassOf 'Glycogen storage disease' http://purl.obolibrary.org/obo/CLO_0014039 GM17176 'GM17176' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17176' SubClassOf 'has_quality' some 'female' 'GM17176' SubClassOf 'cultured cell' http://www.orpha.net/ORDO/Orphanet_2085 Glaucoma - sleep apnea 'Glaucoma - sleep apnea' SubClassOf 'Rare disease with glaucoma as a major feature' 'Glaucoma - sleep apnea' SubClassOf 'Syndromic developmental defect of the eye' 'Glaucoma - sleep apnea' SubClassOf 'Rare disease with glaucoma as a major feature' 'Glaucoma - sleep apnea' SubClassOf 'Syndromic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_2084 Glaucoma - ectopia - microspherophakia - stiff joints - short stature 'Glaucoma - ectopia - microspherophakia - stiff joints - short stature' SubClassOf 'Syndromic developmental defect of the eye' 'Glaucoma - ectopia - microspherophakia - stiff joints - short stature' SubClassOf 'Lens size anomaly' 'Glaucoma - ectopia - microspherophakia - stiff joints - short stature' SubClassOf 'Weill-Marchesani syndrome' http://www.orpha.net/ORDO/Orphanet_2083 Prominent glabella - microcephaly - hypogenitalism 'Prominent glabella - microcephaly - hypogenitalism' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Prominent glabella - microcephaly - hypogenitalism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Prominent glabella - microcephaly - hypogenitalism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Prominent glabella - microcephaly - hypogenitalism' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/CHEBI_46195 paracetamol 'paracetamol' SubClassOf 'has_role' some 'non-steroidal anti-inflammatory drug' 'paracetamol' SubClassOf 'has_role' some 'antipyretic' 'paracetamol' SubClassOf 'has_role' some 'non-narcotic analgesic' 'paracetamol' SubClassOf 'has_role' some 'cyclooxygenase 2 inhibitor' 'paracetamol' SubClassOf 'has_role' some 'cyclooxygenase 1 inhibitor' http://www.orpha.net/ORDO/Orphanet_98869 Congenital dyserythropoietic anemia type I 'Congenital dyserythropoietic anemia type I' SubClassOf 'Congenital dyserythropoietic anemia' 'Congenital dyserythropoietic anemia type I' SubClassOf 'Congenital dyserythropoietic anemia' http://www.ebi.ac.uk/efo/EFO_0000761 obsolete_normal 'obsolete_normal' SubClassOf 'obsolete class' 'obsolete_normal' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98868 Southeast Asian ovalocytosis 'Southeast Asian ovalocytosis' SubClassOf 'Hereditary stomatocytosis' 'Southeast Asian ovalocytosis' SubClassOf 'Hereditary elliptocytosis' 'Southeast Asian ovalocytosis' SubClassOf 'Hereditary stomatocytosis' http://www.ebi.ac.uk/efo/EFO_0000762 hepatocellular adenoma 'hepatocellular adenoma' SubClassOf 'adenoma' 'hepatocellular adenoma' SubClassOf 'has_disease_location' some 'liver' 'hepatocellular adenoma' SubClassOf 'adenoma' 'hepatocellular adenoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018530 'hepatocellular adenoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0036976 'hepatocellular adenoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000627 'hepatocellular adenoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000385 http://purl.obolibrary.org/obo/CLO_0014033 GM17175 'GM17175' SubClassOf 'has_quality' some 'female' 'GM17175' SubClassOf 'cultured cell' 'GM17175' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0000763 viral disease 'viral disease' SubClassOf 'infectious disease' 'viral disease' SubClassOf 'infectious disease' 'viral disease' EquivalentTo 'has_participant' some 'Virus' http://purl.obolibrary.org/obo/CLO_0014034 GM17174 'GM17174' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17174' SubClassOf 'has_quality' some 'male' 'GM17174' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0000764 HIV infection 'HIV infection' SubClassOf 'viral disease' 'HIV infection' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021682 'HIV infection' SubClassOf 'Lentivirus Infections' http://purl.obolibrary.org/obo/HP_0002109 Abnormality of bronchi 'Abnormality of bronchi' EquivalentTo 'has part' some ('quality' and ('has component' some 'abnormal') and ('inheres in part of' some 'bronchus')) http://www.ebi.ac.uk/efo/EFO_0000765 AIDS 'AIDS' SubClassOf 'HIV infection' 'AIDS' SubClassOf 'HIV infection' 'AIDS' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003780 'AIDS' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000621 http://www.ebi.ac.uk/efo/EFO_0000766 obsolete_hereditary leiomyomatosis and renal cell cancer 'obsolete_hereditary leiomyomatosis and renal cell cancer' SubClassOf 'obsolete class' 'obsolete_hereditary leiomyomatosis and renal cell cancer' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98870 Congenital dyserythropoietic anemia type III 'Congenital dyserythropoietic anemia type III' SubClassOf 'Congenital dyserythropoietic anemia' 'Congenital dyserythropoietic anemia type III' SubClassOf 'Congenital dyserythropoietic anemia' http://www.ebi.ac.uk/efo/EFO_0000767 idiopathic cardiomyopathy 'idiopathic cardiomyopathy' SubClassOf 'cardiomyopathy' 'idiopathic cardiomyopathy' SubClassOf 'cardiomyopathy' http://www.ebi.ac.uk/efo/EFO_0000768 idiopathic pulmonary fibrosis 'idiopathic pulmonary fibrosis' SubClassOf 'pulmonary fibrosis' 'idiopathic pulmonary fibrosis' SubClassOf 'has_disease_location' some 'lung' 'idiopathic pulmonary fibrosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002429 'idiopathic pulmonary fibrosis' SubClassOf 'pulmonary fibrosis' http://www.ebi.ac.uk/efo/EFO_0000769 Epstein-Barr virus infection 'Epstein-Barr virus infection' SubClassOf 'viral disease' 'Epstein-Barr virus infection' SubClassOf 'Herpesviridae infectious disease' 'Epstein-Barr virus infection' SubClassOf 'has_participant' some 'Human herpesvirus 4' http://www.orpha.net/ORDO/Orphanet_96210 Rare genetic deafness 'Rare genetic deafness' SubClassOf 'has_disease_location' some 'ear' 'Rare genetic deafness' SubClassOf 'has part' some 'deafness' http://www.orpha.net/ORDO/Orphanet_98873 Congenital dyserythropoietic anemia type II 'Congenital dyserythropoietic anemia type II' SubClassOf 'Congenital dyserythropoietic anemia' 'Congenital dyserythropoietic anemia type II' SubClassOf 'Disorder of multiple glycosylation' 'Congenital dyserythropoietic anemia type II' SubClassOf 'Congenital dyserythropoietic anemia' 'Congenital dyserythropoietic anemia type II' SubClassOf 'Disorder of multiple glycosylation' http://purl.obolibrary.org/obo/CHEBI_58165 3',5'-cyclic AMP(1-) '3',5'-cyclic AMP(1-)' SubClassOf 'chemical entity' '3',5'-cyclic AMP(1-)' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_2098 Acromesomelic dysplasia, Grebe type 'Acromesomelic dysplasia, Grebe type' SubClassOf 'Acromesomelic dysplasia' 'Acromesomelic dysplasia, Grebe type' SubClassOf 'Achondrogenesis' 'Acromesomelic dysplasia, Grebe type' SubClassOf 'Acromesomelic dysplasia' http://www.orpha.net/ORDO/Orphanet_2097 Grant syndrome 'Grant syndrome' SubClassOf 'Primary bone dysplasia with decreased bone density' 'Grant syndrome' SubClassOf 'Primary bone dysplasia with decreased bone density' http://www.orpha.net/ORDO/Orphanet_2095 Gorlin-Chaudhry-Moss syndrome 'Gorlin-Chaudhry-Moss syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Gorlin-Chaudhry-Moss syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Gorlin-Chaudhry-Moss syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Gorlin-Chaudhry-Moss syndrome' SubClassOf 'Ectodermal dysplasia syndrome' http://www.ebi.ac.uk/efo/EFO_0000790 obsolete_adipose tissue 'obsolete_adipose tissue' SubClassOf 'obsolete class' 'obsolete_adipose tissue' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000791 obsolete_cardiovascular system 'obsolete_cardiovascular system' SubClassOf 'obsolete class' 'obsolete_cardiovascular system' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98878 Hemophilia A 'Hemophilia A' SubClassOf 'Hemophilia' 'Hemophilia A' SubClassOf 'Rare genetic coagulation disorder' 'Hemophilia A' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000425 'Hemophilia A' SubClassOf 'Hemophilia' 'Hemophilia A' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044976 'Hemophilia A' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002243 http://www.ebi.ac.uk/efo/EFO_0000792 craniofacial tissue 'craniofacial tissue' EquivalentTo 'part_of' some 'craniofacial tissue' http://www.ebi.ac.uk/efo/EFO_0000793 obsolete_digestive system component 'obsolete_digestive system component' SubClassOf 'obsolete class' 'obsolete_digestive system component' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98879 Hemophilia B 'Hemophilia B' SubClassOf 'Hemophilia' 'Hemophilia B' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002243 'Hemophilia B' SubClassOf 'Hemophilia' http://www.orpha.net/ORDO/Orphanet_97548 Ivemark syndrome 'Ivemark syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Ivemark syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Ivemark syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018677 'Ivemark syndrome' SubClassOf 'Genetic cardiac anomaly' http://www.ebi.ac.uk/efo/EFO_0000795 animal developmental tissue 'animal developmental tissue' SubClassOf 'part_of' some 'embryo' http://purl.obolibrary.org/obo/HP_0002119 Ventriculomegaly 'Ventriculomegaly' SubClassOf 'abnormality of brain morphology' 'Ventriculomegaly' SubClassOf 'abnormality of brain morphology' http://www.ebi.ac.uk/efo/EFO_0000796 obsolete_animal fluid 'obsolete_animal fluid' SubClassOf 'obsolete class' 'obsolete_animal fluid' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000797 obsolete_gland 'obsolete_gland' SubClassOf 'obsolete class' 'obsolete_gland' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000798 obsolete_haemopoietic system 'obsolete_haemopoietic system' SubClassOf 'obsolete class' 'obsolete_haemopoietic system' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/HP_0003457 EMG abnormality 'EMG abnormality' SubClassOf 'Abnormality of muscle physiology' 'EMG abnormality' SubClassOf 'Abnormality of muscle physiology' http://www.ebi.ac.uk/efo/EFO_0000799 obsolete_appendage 'obsolete_appendage' SubClassOf 'obsolete class' 'obsolete_appendage' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98881 Familial dysfibrinogenemia 'Familial dysfibrinogenemia' SubClassOf 'Congenital fibrinogen deficiency' 'Familial dysfibrinogenemia' SubClassOf 'Congenital fibrinogen deficiency' http://www.orpha.net/ORDO/Orphanet_98880 Familial afibrinogenemia 'Familial afibrinogenemia' SubClassOf 'Congenital fibrinogen deficiency' 'Familial afibrinogenemia' SubClassOf 'Familial dysfibrinogenemia' http://purl.obolibrary.org/obo/HP_0003458 EMG: myopathic abnormalities 'EMG: myopathic abnormalities' SubClassOf 'EMG abnormality' 'EMG: myopathic abnormalities' SubClassOf 'EMG abnormality' http://www.orpha.net/ORDO/Orphanet_98885 Bleeding diathesis due to glycoprotein VI deficiency 'Bleeding diathesis due to glycoprotein VI deficiency' SubClassOf 'Bleeding diathesis due to a collagen receptor defect' 'Bleeding diathesis due to glycoprotein VI deficiency' SubClassOf 'Bleeding diathesis due to a collagen receptor defect' http://www.orpha.net/ORDO/Orphanet_97556 Congenital and infantile nephrotic syndrome 'Congenital and infantile nephrotic syndrome' SubClassOf 'Primary glomerular disease' 'Congenital and infantile nephrotic syndrome' SubClassOf 'Primary glomerular disease' 'Congenital and infantile nephrotic syndrome' SubClassOf 'nephrotic syndrome' http://www.orpha.net/ORDO/Orphanet_97555 Sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy 'Sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy' SubClassOf 'Sporadic idiopathic steroid-resistant nephrotic syndrome' 'Sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy' SubClassOf 'Sporadic idiopathic steroid-resistant nephrotic syndrome' http://www.orpha.net/ORDO/Orphanet_2092 Focal dermal hypoplasia 'Focal dermal hypoplasia' SubClassOf 'Ectodermal dysplasia syndrome' 'Focal dermal hypoplasia' SubClassOf 'Syndromic developmental defect of the eye' 'Focal dermal hypoplasia' SubClassOf 'Lens shape anomaly' 'Focal dermal hypoplasia' SubClassOf 'Malformation syndrome with hamartosis' 'Focal dermal hypoplasia' SubClassOf 'Connective tissue disease with eye involvement' 'Focal dermal hypoplasia' SubClassOf 'X-linked syndromic intellectual disability' 'Focal dermal hypoplasia' SubClassOf 'Ectodermal dysplasia syndrome' 'Focal dermal hypoplasia' SubClassOf 'Syndromic developmental defect of the eye' 'Focal dermal hypoplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007 'Focal dermal hypoplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 'Focal dermal hypoplasia' SubClassOf 'Malformation syndrome with hamartosis' 'Focal dermal hypoplasia' SubClassOf 'Lens shape anomaly' 'Focal dermal hypoplasia' SubClassOf 'X-linked syndromic intellectual disability' 'Focal dermal hypoplasia' SubClassOf 'Connective tissue disease with eye involvement' 'Focal dermal hypoplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019294 http://www.ebi.ac.uk/efo/EFO_0009130 clostridium difficile infection 'clostridium difficile infection' SubClassOf 'bacterial disease' 'clostridium difficile infection' SubClassOf 'bacterial disease' http://www.orpha.net/ORDO/Orphanet_2091 Multinodular goiter - cystic kidney - polydactyly 'Multinodular goiter - cystic kidney - polydactyly' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Multinodular goiter - cystic kidney - polydactyly' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/CLO_0027328 GM15268 'GM15268' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM15268' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0009131 response to polyunsaturated fatty acid supplementation 'response to polyunsaturated fatty acid supplementation' SubClassOf 'response to stimulus' 'response to polyunsaturated fatty acid supplementation' SubClassOf 'response to stimulus' 'response to polyunsaturated fatty acid supplementation' SubClassOf 'has_input' some 'fatty acid' http://www.orpha.net/ORDO/Orphanet_2090 GMS syndrome 'GMS syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'GMS syndrome' SubClassOf 'Goniodysgenesis' 'GMS syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'GMS syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'GMS syndrome' SubClassOf 'Goniodysgenesis' http://www.ebi.ac.uk/efo/EFO_0009114 in utero exposure measurement 'in utero exposure measurement' SubClassOf 'environmental exposure measurement' 'in utero exposure measurement' SubClassOf 'is_about' some 'female reproductive system' 'in utero exposure measurement' SubClassOf 'environmental exposure measurement' http://purl.obolibrary.org/obo/CLO_0016676 GM17794 'GM17794' SubClassOf 'has_quality' some 'male' 'GM17794' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17794' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0009115 tobacco smoke exposure measurement 'tobacco smoke exposure measurement' SubClassOf 'environmental exposure measurement' 'tobacco smoke exposure measurement' SubClassOf 'is_about' some 'smoking behavior' 'tobacco smoke exposure measurement' SubClassOf 'environmental exposure measurement' http://www.ebi.ac.uk/efo/EFO_0009116 vitamin supplement exposure measurement 'vitamin supplement exposure measurement' SubClassOf 'environmental exposure measurement' 'vitamin supplement exposure measurement' SubClassOf 'is_about' some 'response to vitamin' 'vitamin supplement exposure measurement' SubClassOf 'environmental exposure measurement' http://purl.obolibrary.org/obo/CLO_0016678 GM17793 'GM17793' SubClassOf 'cultured cell' 'GM17793' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17793' SubClassOf 'has_quality' some 'female' http://www.ebi.ac.uk/efo/EFO_0009117 typhus 'typhoid fever' DisjointWith 'typhus' 'typhus' SubClassOf 'has_participant' some 'Rickettsia prowazekii' 'typhus' SubClassOf 'Rickettsiaceae infectious disease' http://www.ebi.ac.uk/efo/EFO_0009113 alcohol exposure measurement 'alcohol exposure measurement' SubClassOf 'environmental exposure measurement' 'alcohol exposure measurement' SubClassOf 'environmental exposure measurement' 'alcohol exposure measurement' SubClassOf 'is_about' some 'alcohol drinking' http://www.ebi.ac.uk/efo/EFO_0000780 Enterococcus faecalis infection 'Enterococcus faecalis infection' SubClassOf 'bacterial disease' 'Enterococcus faecalis infection' SubClassOf 'bacterial disease' http://www.orpha.net/ORDO/Orphanet_98889 Bilateral perisylvian polymicrogyria 'Bilateral perisylvian polymicrogyria' SubClassOf 'Bilateral polymicrogyria' 'Bilateral perisylvian polymicrogyria' SubClassOf 'Bilateral polymicrogyria' http://www.ebi.ac.uk/efo/EFO_0000781 Pectobacterium carotovorum infection 'Pectobacterium carotovorum infection' SubClassOf 'bacterial disease' 'Pectobacterium carotovorum infection' SubClassOf 'bacterial disease' http://www.orpha.net/ORDO/Orphanet_98888 X-linked complex spastic paraplegia 'X-linked complex spastic paraplegia' SubClassOf 'Complex hereditary spastic paraplegia' 'X-linked complex spastic paraplegia' SubClassOf 'Complex hereditary spastic paraplegia' http://www.ebi.ac.uk/efo/EFO_0000783 myositis 'myositis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021166 'myositis' SubClassOf 'myopathy' 'myositis' SubClassOf 'has_disease_location' some 'musculature of body' http://www.ebi.ac.uk/efo/EFO_0009118 female reproductive endometrioid cancer 'female reproductive endometrioid cancer' SubClassOf 'has_disease_location' some ('female reproductive system' or ('part_of' some 'female reproductive system')) http://purl.obolibrary.org/obo/CLO_0016672 GM17792 'GM17792' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17792' SubClassOf 'has_quality' some 'female' 'GM17792' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0009119 precursor lymphoblastic lymphoma/leukemia 'precursor lymphoblastic lymphoma/leukemia' SubClassOf 'leukemia' 'precursor lymphoblastic lymphoma/leukemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001018 'precursor lymphoblastic lymphoma/leukemia' SubClassOf 'lymphoid neoplasm' http://www.orpha.net/ORDO/Orphanet_357329 Cryptosporidiosis - chronic cholangitis - liver disease 'Cryptosporidiosis - chronic cholangitis - liver disease' SubClassOf 'Combined T and B cell immunodeficiency' 'Cryptosporidiosis - chronic cholangitis - liver disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018814 http://purl.obolibrary.org/obo/CLO_0016675 GM17791 'GM17791' SubClassOf 'has_quality' some 'male' 'GM17791' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17791' SubClassOf 'cultured cell' http://www.orpha.net/ORDO/Orphanet_98892 Periventricular nodular heterotopia 'Periventricular nodular heterotopia' SubClassOf 'Nodular neuronal heterotopia' 'Periventricular nodular heterotopia' SubClassOf 'Nodular neuronal heterotopia' http://www.ebi.ac.uk/efo/EFO_0000789 plant component 'plant anatomical entity' EquivalentTo 'plant component' http://www.orpha.net/ORDO/Orphanet_98893 Congenital muscular dystrophy type 1B 'Congenital muscular dystrophy type 1B' SubClassOf 'Congenital muscular dystrophy' 'Congenital muscular dystrophy type 1B' SubClassOf 'Congenital muscular dystrophy' http://www.orpha.net/ORDO/Orphanet_98896 Duchenne muscular dystrophy 'Duchenne muscular dystrophy' SubClassOf 'Qualitative or quantitative defects of dystrophin' 'Duchenne muscular dystrophy' SubClassOf 'Myopathy with eye involvement' 'Duchenne muscular dystrophy' SubClassOf 'Duchenne and Becker muscular dystrophy' 'Duchenne muscular dystrophy' SubClassOf 'Myopathy with eye involvement' 'Duchenne muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0010542 'Duchenne muscular dystrophy' SubClassOf 'Duchenne and Becker muscular dystrophy' http://purl.obolibrary.org/obo/CHEBI_6775 mesalamine 'mesalamine' SubClassOf 'has_role' some 'anti-inflammatory drug' http://www.orpha.net/ORDO/Orphanet_98895 Becker muscular dystrophy 'Becker muscular dystrophy' SubClassOf 'Duchenne and Becker muscular dystrophy' 'Becker muscular dystrophy' SubClassOf 'Qualitative or quantitative defects of dystrophin' 'Becker muscular dystrophy' SubClassOf 'Duchenne and Becker muscular dystrophy' 'Becker muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0010542 http://www.orpha.net/ORDO/Orphanet_98897 Oculopharyngodistal myopathy 'Oculopharyngodistal myopathy' SubClassOf 'Distal myopathy' 'Oculopharyngodistal myopathy' SubClassOf 'Progressive muscular dystrophy' 'Oculopharyngodistal myopathy' SubClassOf 'Myopathy with eye involvement' 'Oculopharyngodistal myopathy' SubClassOf 'Distal myopathy' 'Oculopharyngodistal myopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020169 'Oculopharyngodistal myopathy' SubClassOf 'Progressive muscular dystrophy' http://www.orpha.net/ORDO/Orphanet_98890 Early-onset X-linked optic atrophy 'Early-onset X-linked optic atrophy' SubClassOf 'X-linked syndromic intellectual disability' 'Early-onset X-linked optic atrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018609 'Early-onset X-linked optic atrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043878 'Early-onset X-linked optic atrophy' SubClassOf 'X-linked syndromic intellectual disability' 'Early-onset X-linked optic atrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004884 http://www.orpha.net/ORDO/Orphanet_3366 Isolated trigonocephaly 'Isolated trigonocephaly' SubClassOf 'Isolated craniosynostosis' 'Isolated trigonocephaly' SubClassOf 'Craniostenosis associated with a strabismus' 'Isolated trigonocephaly' SubClassOf 'Isolated craniosynostosis' 'Isolated trigonocephaly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000156 'Isolated trigonocephaly' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0000156 and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021128) 'Isolated trigonocephaly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Isolated trigonocephaly' SubClassOf 'Craniostenosis associated with a strabismus' 'Isolated trigonocephaly' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_3365 Trigonocephaly - broad thumbs 'Trigonocephaly - broad thumbs' SubClassOf 'Syndromic craniosynostosis' 'Trigonocephaly - broad thumbs' SubClassOf 'Syndromic craniosynostosis' http://www.orpha.net/ORDO/Orphanet_3363 Trichomegaly - retina pigmentary degeneration - dwarfism 'Trichomegaly - retina pigmentary degeneration - dwarfism' SubClassOf 'Ectodermal dysplasia syndrome' 'Trichomegaly - retina pigmentary degeneration - dwarfism' SubClassOf 'Ectodermal dysplasia syndrome' http://www.orpha.net/ORDO/Orphanet_2031 Hepatic fibrosis - renal cysts - intellectual disability 'Hepatic fibrosis - renal cysts - intellectual disability' SubClassOf 'Familial cystic renal disease' 'Hepatic fibrosis - renal cysts - intellectual disability' SubClassOf 'Genetic parenchymatous liver disease' 'Hepatic fibrosis - renal cysts - intellectual disability' SubClassOf 'Familial cystic renal disease' 'Hepatic fibrosis - renal cysts - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Hepatic fibrosis - renal cysts - intellectual disability' SubClassOf 'Genetic parenchymatous liver disease' http://www.orpha.net/ORDO/Orphanet_3361 Trichodysplasia - xeroderma 'Trichodysplasia - xeroderma' SubClassOf 'Syndromic hair shaft abnormality' 'Trichodysplasia - xeroderma' SubClassOf 'Syndromic hair shaft abnormality' http://www.orpha.net/ORDO/Orphanet_357332 Syndactyly - camptodactyly and clinodactyly of fifth fingers - bifid toes 'Syndactyly - camptodactyly and clinodactyly of fifth fingers - bifid toes' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Syndactyly - camptodactyly and clinodactyly of fifth fingers - bifid toes' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' http://purl.obolibrary.org/obo/NCBITaxon_62690 Blumeria graminis f. sp. tritici 'Blumeria graminis f. sp. tritici' SubClassOf 'Ascomycota' 'Blumeria graminis f. sp. tritici' SubClassOf 'Ascomycota' http://www.orpha.net/ORDO/Orphanet_98811 Paroxysmal exertion-induced dyskinesia 'Paroxysmal exertion-induced dyskinesia' SubClassOf 'Paroxysmal dyskinesia' 'Paroxysmal exertion-induced dyskinesia' SubClassOf 'Paroxysmal dyskinesia' 'Paroxysmal exertion-induced dyskinesia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000188 http://www.orpha.net/ORDO/Orphanet_98813 Hypohidrotic ectodermal dysplasia with immunodeficiency 'Hypohidrotic ectodermal dysplasia with immunodeficiency' SubClassOf 'Hypohidrotic ectodermal dysplasia' 'Hypohidrotic ectodermal dysplasia with immunodeficiency' SubClassOf 'Hypohidrotic ectodermal dysplasia' 'Hypohidrotic ectodermal dysplasia with immunodeficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018035 http://www.orpha.net/ORDO/Orphanet_98816 Benign childhood occipital epilepsy, Gastaut type 'Benign childhood occipital epilepsy, Gastaut type' SubClassOf 'Benign occipital epilepsy' 'Benign childhood occipital epilepsy, Gastaut type' SubClassOf 'Benign occipital epilepsy' http://www.orpha.net/ORDO/Orphanet_3369 Trigonocephaly - short stature - developmental delay 'Trigonocephaly - short stature - developmental delay' SubClassOf 'X-linked syndromic intellectual disability' 'Trigonocephaly - short stature - developmental delay' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Trigonocephaly - short stature - developmental delay' SubClassOf 'Syndromic craniosynostosis' 'Trigonocephaly - short stature - developmental delay' SubClassOf 'X-linked syndromic intellectual disability' 'Trigonocephaly - short stature - developmental delay' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Trigonocephaly - short stature - developmental delay' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Trigonocephaly - short stature - developmental delay' SubClassOf 'Syndromic craniosynostosis' http://www.orpha.net/ORDO/Orphanet_98815 Benign childhood occipital epilepsy, Panayiotopoulos type 'Benign childhood occipital epilepsy, Panayiotopoulos type' SubClassOf 'Benign occipital epilepsy' 'Benign childhood occipital epilepsy, Panayiotopoulos type' SubClassOf 'Benign occipital epilepsy' http://www.orpha.net/ORDO/Orphanet_3368 Trigonocephaly - bifid nose - acral anomalies 'Trigonocephaly - bifid nose - acral anomalies' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Trigonocephaly - bifid nose - acral anomalies' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/UBERON_0012168 umbilical cord blood 'umbilical cord blood' SubClassOf 'animal component' 'umbilical cord blood' SubClassOf 'blood' 'umbilical cord blood' SubClassOf 'part_of' some 'late embryo' http://www.orpha.net/ORDO/Orphanet_2036 Scalp-ear-nipple syndrome 'Scalp-ear-nipple syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Scalp-ear-nipple syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Scalp-ear-nipple syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Scalp-ear-nipple syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019294 'Scalp-ear-nipple syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Scalp-ear-nipple syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015853 http://www.orpha.net/ORDO/Orphanet_98820 Familial focal epilepsy with variable foci 'Familial focal epilepsy with variable foci' SubClassOf 'Familial partial epilepsy' 'Familial focal epilepsy with variable foci' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100036 'Familial focal epilepsy with variable foci' SubClassOf 'Familial partial epilepsy' http://purl.obolibrary.org/obo/UBERON_0000178 blood 'blood' SubClassOf 'animal component' 'blood' SubClassOf 'develops_from' some 'blood island' 'blood' SubClassOf http://purl.obolibrary.org/obo/UBERON_0000179 'blood' SubClassOf 'part_of' some 'cardiovascular system' http://www.orpha.net/ORDO/Orphanet_3377 Trismus - pseudocamptodactyly 'Trismus - pseudocamptodactyly' SubClassOf 'Distal arthrogryposis' 'Trismus - pseudocamptodactyly' SubClassOf 'Distal arthrogryposis' http://www.orpha.net/ORDO/Orphanet_2045 FLOTCH syndrome 'FLOTCH syndrome' SubClassOf 'Syndromic nail anomaly' 'FLOTCH syndrome' SubClassOf 'Syndromic nail anomaly' http://www.orpha.net/ORDO/Orphanet_3376 Triploidy 'Triploidy' SubClassOf 'Syndromic obesity' 'Triploidy' SubClassOf 'Polyploidy' 'Triploidy' SubClassOf 'Syndromic obesity' 'Triploidy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020226 'Triploidy' SubClassOf 'Polyploidy' http://www.orpha.net/ORDO/Orphanet_2044 Floating-Harbor syndrome 'Floating-Harbor syndrome' SubClassOf 'Genetic malformation syndrome with short stature' 'Floating-Harbor syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Floating-Harbor syndrome' SubClassOf 'Genetic malformation syndrome with short stature' 'Floating-Harbor syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Floating-Harbor syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Floating-Harbor syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 http://www.orpha.net/ORDO/Orphanet_3375 Trisomy X 'Trisomy X' SubClassOf 'Polysomy of X chromosome' 'Trisomy X' SubClassOf 'Rare female infertility due to an anomaly of ovarian function of genetic origin' 'Trisomy X' SubClassOf 'Non-acquired premature ovarian failure' 'Trisomy X' SubClassOf 'Polysomy of X chromosome' 'Trisomy X' SubClassOf 'Rare female infertility due to an anomaly of ovarian function of genetic origin' 'Trisomy X' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Trisomy X' SubClassOf 'Non-acquired premature ovarian failure' http://www.ebi.ac.uk/efo/EFO_0009132 cholesterol efflux capacity measurement 'cholesterol efflux capacity measurement' SubClassOf 'lipoprotein measurement' 'cholesterol efflux capacity measurement' SubClassOf 'is_about' some 'atherosclerosis' 'cholesterol efflux capacity measurement' SubClassOf 'is_about' some 'blood plasma' 'cholesterol efflux capacity measurement' SubClassOf 'is_about' some 'cholesterol homeostasis' 'cholesterol efflux capacity measurement' SubClassOf 'lipoprotein measurement' 'cholesterol efflux capacity measurement' SubClassOf 'is_about' some 'HDL cholesterol' http://www.orpha.net/ORDO/Orphanet_2042 Tracheo-esophageal fistula - hypospadias 'Tracheo-esophageal fistula - hypospadias' SubClassOf 'Larynx anomaly' 'Tracheo-esophageal fistula - hypospadias' SubClassOf 'Tracheal anomaly' 'Tracheo-esophageal fistula - hypospadias' SubClassOf 'Genetic respiratory malformation' 'Tracheo-esophageal fistula - hypospadias' SubClassOf 'Syndromic urogenital tract malformation' 'Tracheo-esophageal fistula - hypospadias' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018562 'Tracheo-esophageal fistula - hypospadias' SubClassOf 'Larynx anomaly' 'Tracheo-esophageal fistula - hypospadias' SubClassOf 'Tracheal anomaly' 'Tracheo-esophageal fistula - hypospadias' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015222 'Tracheo-esophageal fistula - hypospadias' SubClassOf 'Genetic respiratory malformation' 'Tracheo-esophageal fistula - hypospadias' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015619 'Tracheo-esophageal fistula - hypospadias' SubClassOf 'Syndromic urogenital tract malformation' http://www.ebi.ac.uk/efo/EFO_0009133 cholesteryl ester transfer protein measurement 'cholesteryl ester transfer protein measurement' SubClassOf 'protein measurement' 'cholesteryl ester transfer protein measurement' SubClassOf 'is_about' some 'cholesterol ester' 'cholesteryl ester transfer protein measurement' SubClassOf 'is_about' some 'blood serum' 'cholesteryl ester transfer protein measurement' SubClassOf 'is_about' some 'cholesterol homeostasis' 'cholesteryl ester transfer protein measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0009134 trimethyllysine measurement 'trimethyllysine measurement' SubClassOf 'blood metabolite measurement' 'trimethyllysine measurement' SubClassOf 'blood metabolite measurement' 'trimethyllysine measurement' SubClassOf 'is_about' some 'blood plasma' 'trimethyllysine measurement' SubClassOf 'is_about' some 'Abnormality of the cardiovascular system' http://www.orpha.net/ORDO/Orphanet_3379 Distal trisomy 17q 'Distal trisomy 17q' SubClassOf 'Partial duplication of the long arm of chromosome 17' 'Distal trisomy 17q' SubClassOf 'Partial duplication of the long arm of chromosome 17' http://www.orpha.net/ORDO/Orphanet_2047 Flynn-Aird syndrome 'Flynn-Aird syndrome' SubClassOf 'Premature aging' 'Flynn-Aird syndrome' SubClassOf 'Rare genetic neurological disorder' 'Flynn-Aird syndrome' SubClassOf 'Premature aging' 'Flynn-Aird syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 'Flynn-Aird syndrome' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_3378 Trisomy 13 'Trisomy 13' SubClassOf 'Total autosomal trisomy' 'Trisomy 13' SubClassOf 'Syndrome with a symptomatic strabismus' 'Trisomy 13' SubClassOf 'Congenital vitreoretinal dysplasia' 'Trisomy 13' SubClassOf 'Syndromic anorectal malformation' 'Trisomy 13' SubClassOf 'Syndromic renal or urinary tract malformation' 'Trisomy 13' SubClassOf 'Total autosomal trisomy' 'Trisomy 13' SubClassOf 'Syndrome with a symptomatic strabismus' 'Trisomy 13' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015216 'Trisomy 13' SubClassOf 'Syndromic anorectal malformation' 'Trisomy 13' SubClassOf 'Congenital vitreoretinal dysplasia' 'Trisomy 13' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020226 'Trisomy 13' SubClassOf 'Syndromic renal or urinary tract malformation' http://www.orpha.net/ORDO/Orphanet_2057 Blepharophimosis - ptosis - esotropia - syndactyly - short stature 'Blepharophimosis - ptosis - esotropia - syndactyly - short stature' SubClassOf 'Syndromic developmental defect of the eye' 'Blepharophimosis - ptosis - esotropia - syndactyly - short stature' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Blepharophimosis - ptosis - esotropia - syndactyly - short stature' SubClassOf 'Syndromic developmental defect of the eye' 'Blepharophimosis - ptosis - esotropia - syndactyly - short stature' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Blepharophimosis - ptosis - esotropia - syndactyly - short stature' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020169 http://www.orpha.net/ORDO/Orphanet_3388 Neural tube defect 'Neural tube defect' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020022 http://www.orpha.net/ORDO/Orphanet_2056 Essential fructosuria 'Essential fructosuria' SubClassOf 'Disorder of fructose metabolism' 'Essential fructosuria' SubClassOf 'Disorder of fructose metabolism' http://www.orpha.net/ORDO/Orphanet_3387 Isolated anterior cervical hypertrichosis 'Isolated anterior cervical hypertrichosis' SubClassOf 'Hypertrichosis' 'Isolated anterior cervical hypertrichosis' SubClassOf 'Hypertrichosis' http://www.orpha.net/ORDO/Orphanet_2053 Freeman-Sheldon syndrome 'Freeman-Sheldon syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Freeman-Sheldon syndrome' SubClassOf 'Distal arthrogryposis' 'Freeman-Sheldon syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Freeman-Sheldon syndrome' SubClassOf 'arthrogryposis' 'Freeman-Sheldon syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Freeman-Sheldon syndrome' SubClassOf 'Distal arthrogryposis' http://www.orpha.net/ORDO/Orphanet_2052 Fraser syndrome 'Fraser syndrome' SubClassOf 'Syndromic anorectal malformation' 'Fraser syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Fraser syndrome' SubClassOf 'Syndromic genetic deafness' 'Fraser syndrome' SubClassOf 'Cryptophthalmia' 'Fraser syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Fraser syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Fraser syndrome' SubClassOf 'Syndromic anorectal malformation' 'Fraser syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Fraser syndrome' SubClassOf 'Syndromic genetic deafness' 'Fraser syndrome' SubClassOf 'Cryptophthalmia' 'Fraser syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Fraser syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Fraser syndrome' SubClassOf 'autosomal recessive disease' http://www.orpha.net/ORDO/Orphanet_3383 Humerus trochlea aplasia 'Humerus trochlea aplasia' SubClassOf 'Genetic syndrome with limb reduction defects' 'Humerus trochlea aplasia' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' 'Humerus trochlea aplasia' SubClassOf 'Genetic syndrome with limb reduction defects' http://www.orpha.net/ORDO/Orphanet_2050 Cole-Carpenter syndrome 'Cole-Carpenter syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Cole-Carpenter syndrome' SubClassOf 'Primary bone dysplasia with decreased bone density' 'Cole-Carpenter syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 'Cole-Carpenter syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Cole-Carpenter syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Cole-Carpenter syndrome' SubClassOf 'Osteogenesis imperfecta' http://www.orpha.net/ORDO/Orphanet_2059 Fryns syndrome 'Fryns syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Fryns syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015216 'Fryns syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 'Fryns syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Fryns syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Fryns syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_3389 Tuberculosis 'Tuberculosis' SubClassOf 'bacterial disease' 'Tuberculosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000314 'Tuberculosis' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Tuberculosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020590 http://www.orpha.net/ORDO/Orphanet_3380 Trisomy 18 'Trisomy 18' SubClassOf 'Total autosomal trisomy' 'Trisomy 18' SubClassOf 'Syndromic anorectal malformation' 'Trisomy 18' SubClassOf 'Eyebrow/eyelashes distichiasis' 'Trisomy 18' SubClassOf 'Eyebrow hypertrophy' 'Trisomy 18' SubClassOf 'Syndromic renal or urinary tract malformation' 'Trisomy 18' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020226 'Trisomy 18' SubClassOf 'Total autosomal trisomy' 'Trisomy 18' SubClassOf 'Syndromic anorectal malformation' 'Trisomy 18' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015216 'Trisomy 18' SubClassOf 'Eyebrow/eyelashes distichiasis' 'Trisomy 18' SubClassOf 'Eyebrow hypertrophy' 'Trisomy 18' SubClassOf 'Syndromic renal or urinary tract malformation' http://www.ebi.ac.uk/efo/EFO_0009175 response to synacthen 'response to synacthen' SubClassOf 'response to drug' 'response to synacthen' SubClassOf 'has_input' some 'cosyntropin' 'response to synacthen' SubClassOf 'response to drug' http://www.orpha.net/ORDO/Orphanet_2067 GAPO syndrome 'GAPO syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'GAPO syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'GAPO syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'GAPO syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018609 'GAPO syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'GAPO syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'GAPO syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'GAPO syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'GAPO syndrome' SubClassOf 'Ectodermal dysplasia syndrome' http://www.orpha.net/ORDO/Orphanet_2066 Gamma-aminobutyric acid transaminase deficiency 'Gamma-aminobutyric acid transaminase deficiency' SubClassOf 'Neurometabolic disease' 'Gamma-aminobutyric acid transaminase deficiency' SubClassOf 'Disorder of gamma-aminobutyric acid metabolism' 'Gamma-aminobutyric acid transaminase deficiency' SubClassOf 'Disorder of beta and omega amino acid metabolism' 'Gamma-aminobutyric acid transaminase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044976 'Gamma-aminobutyric acid transaminase deficiency' SubClassOf 'Neurometabolic disease' 'Gamma-aminobutyric acid transaminase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016404 'Gamma-aminobutyric acid transaminase deficiency' SubClassOf 'Disorder of beta and omega amino acid metabolism' 'Gamma-aminobutyric acid transaminase deficiency' SubClassOf 'Cerebral organic aciduria' 'Gamma-aminobutyric acid transaminase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000698 http://www.orpha.net/ORDO/Orphanet_2065 Galloway-Mowat syndrome 'Galloway-Mowat syndrome' SubClassOf 'Primary glomerular disease' 'Galloway-Mowat syndrome' SubClassOf 'autosomal recessive disease' 'Galloway-Mowat syndrome' SubClassOf 'Primary glomerular disease' 'Galloway-Mowat syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017120 'Galloway-Mowat syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 http://purl.obolibrary.org/obo/CHEBI_35481 non-narcotic analgesic 'non-narcotic analgesic' SubClassOf 'inheres_in' some 'chemical entity' http://www.orpha.net/ORDO/Orphanet_2064 Posterior fusion of lumbosacral vertebrae - blepharoptosis 'Posterior fusion of lumbosacral vertebrae - blepharoptosis' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Posterior fusion of lumbosacral vertebrae - blepharoptosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Posterior fusion of lumbosacral vertebrae - blepharoptosis' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_2063 Splenogonadal fusion - limb defects - micrognathia 'Splenogonadal fusion - limb defects - micrognathia' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Splenogonadal fusion - limb defects - micrognathia' SubClassOf 'Genetic syndrome with limb reduction defects' 'Splenogonadal fusion - limb defects - micrognathia' SubClassOf 'Syndromic visceral malformation' 'Splenogonadal fusion - limb defects - micrognathia' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Splenogonadal fusion - limb defects - micrognathia' SubClassOf 'Genetic syndrome with limb reduction defects' 'Splenogonadal fusion - limb defects - micrognathia' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' 'Splenogonadal fusion - limb defects - micrognathia' SubClassOf 'Syndromic visceral malformation' http://purl.obolibrary.org/obo/UBERON_0012170 core of nucleus accumbens 'core of nucleus accumbens' SubClassOf 'part_of' some 'nucleus accumbens' http://www.orpha.net/ORDO/Orphanet_2062 Progressive non-infectious anterior vertebral fusion 'Progressive non-infectious anterior vertebral fusion' SubClassOf 'Dysostosis with predominant vertebral and costal involvement' 'Progressive non-infectious anterior vertebral fusion' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Progressive non-infectious anterior vertebral fusion' SubClassOf 'Dysostosis with predominant vertebral and costal involvement' http://purl.obolibrary.org/obo/UBERON_0012171 shell of nucleus accumbens 'shell of nucleus accumbens' SubClassOf 'part_of' some 'nucleus accumbens' http://www.orpha.net/ORDO/Orphanet_2069 Gastrocutaneous syndrome 'Gastrocutaneous syndrome' SubClassOf 'Genetic hyperpigmentation of the skin' 'Gastrocutaneous syndrome' SubClassOf 'Genetic hyperpigmentation of the skin' http://dbpedia.org/resource/South_Korea South Korea 'South Korea' SubClassOf 'country' 'South Korea' SubClassOf 'country' http://www.orpha.net/ORDO/Orphanet_98853 Autosomal dominant Emery-Dreifuss muscular dystrophy 'Autosomal dominant Emery-Dreifuss muscular dystrophy' SubClassOf 'Emery-Dreifuss muscular dystrophy' 'Autosomal dominant Emery-Dreifuss muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 'Autosomal dominant Emery-Dreifuss muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021106 'Autosomal dominant Emery-Dreifuss muscular dystrophy' SubClassOf 'Emery-Dreifuss muscular dystrophy' http://www.orpha.net/ORDO/Orphanet_3390 Proximal tubulopathy - diabetes mellitus - cerebellar ataxia 'Proximal tubulopathy - diabetes mellitus - cerebellar ataxia' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'Proximal tubulopathy - diabetes mellitus - cerebellar ataxia' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA' 'Proximal tubulopathy - diabetes mellitus - cerebellar ataxia' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'Proximal tubulopathy - diabetes mellitus - cerebellar ataxia' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA' http://www.ebi.ac.uk/efo/EFO_0009160 stromme syndrome 'stromme syndrome' SubClassOf 'Rare genetic neurological disorder' 'stromme syndrome' SubClassOf 'Primary ciliary dyskinesia' 'stromme syndrome' SubClassOf 'Syndromic intestinal malformation' 'stromme syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'stromme syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043009 'stromme syndrome' SubClassOf 'Rare genetic neurological disorder' 'stromme syndrome' SubClassOf 'Primary ciliary dyskinesia' 'stromme syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017120 'stromme syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'stromme syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'stromme syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 http://purl.obolibrary.org/obo/CLO_0016600 GM17762 'GM17762' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17762' SubClassOf 'has_quality' some 'male' 'GM17762' SubClassOf 'cultured cell' http://purl.obolibrary.org/obo/CLO_0016602 GM17765 'GM17765' SubClassOf 'cultured cell' 'GM17765' SubClassOf 'has_quality' some 'male' 'GM17765' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://www.orpha.net/ORDO/Orphanet_2110 Hallux varus - preaxial polysyndactyly 'Hallux varus - preaxial polysyndactyly' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Hallux varus - preaxial polysyndactyly' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' http://purl.obolibrary.org/obo/CLO_0016601 GM17761 'GM17761' SubClassOf 'has_quality' some 'male' 'GM17761' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17761' SubClassOf 'cultured cell' http://www.orpha.net/ORDO/Orphanet_3440 Waardenburg syndrome 'Waardenburg syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Waardenburg syndrome' SubClassOf 'Syndromic genetic deafness' 'Waardenburg syndrome' SubClassOf 'Syndrome with a symptomatic strabismus' 'Waardenburg syndrome' SubClassOf 'Eyebrow/eyelashes pigmentation anomaly' 'Waardenburg syndrome' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Waardenburg syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Waardenburg syndrome' SubClassOf 'Genetic hypopigmentation of the skin' 'Waardenburg syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Waardenburg syndrome' SubClassOf 'Syndromic genetic deafness' 'Waardenburg syndrome' SubClassOf 'Syndrome with a symptomatic strabismus' 'Waardenburg syndrome' SubClassOf 'Eyebrow/eyelashes pigmentation anomaly' 'Waardenburg syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 'Waardenburg syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 'Waardenburg syndrome' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Waardenburg syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Waardenburg syndrome' SubClassOf 'Genetic hypopigmentation of the skin' http://purl.obolibrary.org/obo/CLO_0016604 GM17764 'GM17764' SubClassOf 'cultured cell' 'GM17764' SubClassOf 'has_quality' some 'male' 'GM17764' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0009066 clcn4-related disorder 'clcn4-related disorder' SubClassOf 'genetic disorder' 'clcn4-related disorder' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0009067 combined partial 17-alpha-hydroxylase/17,20-lyase deficiency 'combined partial 17-alpha-hydroxylase/17,20-lyase deficiency' SubClassOf 'endocrine system disease' 'combined partial 17-alpha-hydroxylase/17,20-lyase deficiency' SubClassOf 'endocrine system disease' http://purl.obolibrary.org/obo/CLO_0016606 GM17757 'GM17757' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17757' SubClassOf 'cultured cell' 'GM17757' SubClassOf 'has_quality' some 'female' http://www.ebi.ac.uk/efo/EFO_0009068 dicer1 syndrome 'dicer1 syndrome' SubClassOf 'pulmonary blastoma' 'dicer1 syndrome' SubClassOf 'pulmonary blastoma' http://www.ebi.ac.uk/efo/EFO_0009069 hepatic methionine adenosyltransferase deficiency 'hepatic methionine adenosyltransferase deficiency' SubClassOf 'metabolic disease' 'hepatic methionine adenosyltransferase deficiency' SubClassOf 'metabolic disease' 'hepatic methionine adenosyltransferase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024297 http://www.orpha.net/ORDO/Orphanet_2118 Hawkinsinuria 'Hawkinsinuria' SubClassOf 'Disorder of tyrosine metabolism' 'Hawkinsinuria' SubClassOf 'Disorder of tyrosine metabolism' http://www.orpha.net/ORDO/Orphanet_3449 Weill-Marchesani syndrome 'Weill-Marchesani syndrome' SubClassOf 'Syndrome with brachydactyly' 'Weill-Marchesani syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Weill-Marchesani syndrome' SubClassOf 'Lens size anomaly' 'Weill-Marchesani syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Weill-Marchesani syndrome' SubClassOf 'Rare disease with glaucoma as a major feature' 'Weill-Marchesani syndrome' SubClassOf 'Syndrome with brachydactyly' 'Weill-Marchesani syndrome' SubClassOf 'Acromelic dysplasia' 'Weill-Marchesani syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Weill-Marchesani syndrome' SubClassOf 'Rare genetic neurological disorder' 'Weill-Marchesani syndrome' SubClassOf 'Lens size anomaly' 'Weill-Marchesani syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Weill-Marchesani syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000429 'Weill-Marchesani syndrome' SubClassOf 'Rare disease with glaucoma as a major feature' http://www.orpha.net/ORDO/Orphanet_2117 Hartsfield-Bixler-Demyer syndrome 'Hartsfield-Bixler-Demyer syndrome' SubClassOf 'Orofacial clefting syndrome' 'Hartsfield-Bixler-Demyer syndrome' SubClassOf 'Orofacial clefting syndrome' 'Hartsfield-Bixler-Demyer syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Hartsfield-Bixler-Demyer syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017120 'Hartsfield-Bixler-Demyer syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 'Hartsfield-Bixler-Demyer syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 http://www.orpha.net/ORDO/Orphanet_3448 Weaver-Williams syndrome 'Weaver-Williams syndrome' SubClassOf 'Orofacial clefting syndrome' 'Weaver-Williams syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Weaver-Williams syndrome' SubClassOf 'Orofacial clefting syndrome' 'Weaver-Williams syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Weaver-Williams syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 'Weaver-Williams syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Weaver-Williams syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 http://www.orpha.net/ORDO/Orphanet_2116 Hartnup disease 'Hartnup disease' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'Hartnup disease' SubClassOf 'Genetic photodermatosis' 'Hartnup disease' SubClassOf 'Neurometabolic disease' 'Hartnup disease' SubClassOf 'Disorder of neutral amino acid transport' 'Hartnup disease' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'Hartnup disease' SubClassOf 'Genetic photodermatosis' 'Hartnup disease' SubClassOf 'Neurometabolic disease' 'Hartnup disease' SubClassOf 'Cerebral organic aciduria' 'Hartnup disease' SubClassOf 'Disorder of neutral amino acid transport' 'Hartnup disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019304 'Hartnup disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004736 'Hartnup disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 http://www.orpha.net/ORDO/Orphanet_3447 Weaver syndrome 'Weaver syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Weaver syndrome' SubClassOf 'Overgrowth syndrome' 'Weaver syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Weaver syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Weaver syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Weaver syndrome' SubClassOf 'Overgrowth syndrome' http://www.orpha.net/ORDO/Orphanet_2115 Harrod syndrome 'Harrod syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Harrod syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Harrod syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Harrod syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 http://www.orpha.net/ORDO/Orphanet_2114 Hip dysplasia, Beukes type 'Hip dysplasia, Beukes type' SubClassOf 'Multiple epiphyseal dysplasia and pseudoachondroplasia' 'Hip dysplasia, Beukes type' SubClassOf 'Multiple epiphyseal dysplasia and pseudoachondroplasia' http://www.orpha.net/ORDO/Orphanet_262201 Partial duplication of chromosome 3 'Partial duplication of chromosome 3' SubClassOf 'Partial autosomal trisomy/tetrasomy' 'Partial duplication of chromosome 3' SubClassOf 'Partial autosomal trisomy/tetrasomy' http://www.orpha.net/ORDO/Orphanet_238578 Familial clubfoot due to 17q23.1q23.2 microduplication 'Familial clubfoot due to 17q23.1q23.2 microduplication' SubClassOf 'Partial duplication of the long arm of chromosome 17' 'Familial clubfoot due to 17q23.1q23.2 microduplication' SubClassOf 'Familial clubfoot with or without associated lower limb anomalies' 'Familial clubfoot due to 17q23.1q23.2 microduplication' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000762 'Familial clubfoot due to 17q23.1q23.2 microduplication' SubClassOf 'Partial duplication of the long arm of chromosome 17' 'Familial clubfoot due to 17q23.1q23.2 microduplication' SubClassOf 'Familial clubfoot with or without associated lower limb anomalies' http://www.orpha.net/ORDO/Orphanet_263534 Acral peeling skin syndrome 'Acral peeling skin syndrome' SubClassOf 'Peeling skin syndrome' 'Acral peeling skin syndrome' SubClassOf 'Peeling skin syndrome' http://www.ebi.ac.uk/efo/EFO_0009073 methylmalonic aciduria (cobalamin deficiency) cblA type 'methylmalonic aciduria (cobalamin deficiency) cblA type' SubClassOf 'metabolic disease' 'methylmalonic aciduria (cobalamin deficiency) cblA type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024297 'methylmalonic aciduria (cobalamin deficiency) cblA type' SubClassOf 'metabolic disease' http://www.ebi.ac.uk/efo/EFO_0009074 methylmalonic aciduria cblb type 'methylmalonic aciduria cblb type' SubClassOf 'Classic organic aciduria' 'methylmalonic aciduria cblb type' SubClassOf 'Classic organic aciduria' http://www.ebi.ac.uk/efo/EFO_0009075 neuropathy, hereditary motor and sensory, type vib 'neuropathy, hereditary motor and sensory, type vib' SubClassOf 'Hereditary motor and sensory neuropathy type 6' 'neuropathy, hereditary motor and sensory, type vib' SubClassOf 'Hereditary motor and sensory neuropathy type 6' http://www.ebi.ac.uk/efo/EFO_0009076 nonsyndromic deafness 'nonsyndromic deafness' SubClassOf 'deafness' 'nonsyndromic deafness' SubClassOf 'deafness' http://www.orpha.net/ORDO/Orphanet_308400 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C' SubClassOf 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency' 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C' SubClassOf 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency' http://www.orpha.net/ORDO/Orphanet_308407 Disorder of beta and omega amino acid metabolism 'Disorder of beta and omega amino acid metabolism' SubClassOf 'Disorder of amino acid and other organic acid metabolism' 'Disorder of beta and omega amino acid metabolism' SubClassOf 'Disorder of amino acid and other organic acid metabolism' http://www.ebi.ac.uk/efo/EFO_0009070 intellectual developmental disorder with dysmorphic facies and ptosis 'intellectual developmental disorder with dysmorphic facies and ptosis' SubClassOf 'genetic disorder' 'intellectual developmental disorder with dysmorphic facies and ptosis' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0009071 malignant hyperthermia, susceptibility to, 1 'malignant hyperthermia, susceptibility to, 1' SubClassOf 'Malignant hyperthermia' 'malignant hyperthermia, susceptibility to, 1' SubClassOf 'Malignant hyperthermia' http://www.ebi.ac.uk/efo/EFO_0009072 mbd5 associated neurodevelopmental disorder 'mbd5 associated neurodevelopmental disorder' SubClassOf 'nervous system disease' 'mbd5 associated neurodevelopmental disorder' SubClassOf 'nervous system disease' http://www.ebi.ac.uk/efo/EFO_0009059 Spinocerebellar ataxia type 42 'Spinocerebellar ataxia type 42' SubClassOf 'Autosomal dominant cerebellar ataxia type 3' 'Spinocerebellar ataxia type 42' SubClassOf 'Autosomal dominant cerebellar ataxia type 3' http://www.orpha.net/ORDO/Orphanet_3454 Intellectual disability-developmental delay-contractures syndrome 'Intellectual disability-developmental delay-contractures syndrome' SubClassOf 'Arthrogryposis multiplex congenita' 'Intellectual disability-developmental delay-contractures syndrome' SubClassOf 'Genetic skeletal muscle disease' 'Intellectual disability-developmental delay-contractures syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Intellectual disability-developmental delay-contractures syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0010666 'Intellectual disability-developmental delay-contractures syndrome' SubClassOf 'Arthrogryposis multiplex congenita' 'Intellectual disability-developmental delay-contractures syndrome' SubClassOf 'Genetic skeletal muscle disease' http://www.orpha.net/ORDO/Orphanet_3453 Autoimmune polyendocrinopathy type 1 'Autoimmune polyendocrinopathy type 1' SubClassOf 'Genetic hypoparathyroidism' 'Autoimmune polyendocrinopathy type 1' SubClassOf 'Immunodeficiency syndrome with autoimmunity' 'Autoimmune polyendocrinopathy type 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017278 'Autoimmune polyendocrinopathy type 1' SubClassOf 'Genetic hypoparathyroidism' 'Autoimmune polyendocrinopathy type 1' SubClassOf 'adrenal gland disease' 'Autoimmune polyendocrinopathy type 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018242 'Autoimmune polyendocrinopathy type 1' SubClassOf 'Immunodeficiency syndrome with autoimmunity' http://www.orpha.net/ORDO/Orphanet_3451 West syndrome 'West syndrome' SubClassOf 'ARX-related epileptic encephalopathy' 'West syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100022 'West syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'West syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000413 'West syndrome' SubClassOf 'ARX-related epileptic encephalopathy' http://www.ebi.ac.uk/efo/EFO_0009055 RIDDLE syndrome 'RIDDLE syndrome' SubClassOf 'Autosomal recessive cerebellar ataxia due to a DNA repair defect' 'RIDDLE syndrome' SubClassOf 'Autosomal recessive cerebellar ataxia due to a DNA repair defect' http://www.orpha.net/ORDO/Orphanet_3450 Weissenbacher- Zweymuller syndrome 'Weissenbacher- Zweymuller syndrome' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Weissenbacher- Zweymuller syndrome' SubClassOf 'Orofacial clefting syndrome' 'Weissenbacher- Zweymuller syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Weissenbacher- Zweymuller syndrome' SubClassOf 'Type 11 collagen-related bone disorder' 'Weissenbacher- Zweymuller syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 'Weissenbacher- Zweymuller syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 'Weissenbacher- Zweymuller syndrome' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Weissenbacher- Zweymuller syndrome' SubClassOf 'Orofacial clefting syndrome' 'Weissenbacher- Zweymuller syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Weissenbacher- Zweymuller syndrome' SubClassOf 'Type 11 collagen-related bone disorder' http://www.ebi.ac.uk/efo/EFO_0009056 Spinocerebellar ataxia type 38 'Spinocerebellar ataxia type 38' SubClassOf 'Autosomal dominant cerebellar ataxia type 3' 'Spinocerebellar ataxia type 38' SubClassOf 'Autosomal dominant cerebellar ataxia type 3' http://www.ebi.ac.uk/efo/EFO_0009057 Spinocerebellar ataxia type 40 'Spinocerebellar ataxia type 40' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' 'Spinocerebellar ataxia type 40' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' http://www.ebi.ac.uk/efo/EFO_0009058 Spinocerebellar ataxia type 41 'Spinocerebellar ataxia type 41' SubClassOf 'Autosomal dominant cerebellar ataxia type 3' 'Spinocerebellar ataxia type 41' SubClassOf 'Autosomal dominant cerebellar ataxia type 3' http://purl.obolibrary.org/obo/CHEBI_11596 2-hydroxyglutarate(2-) '2-hydroxyglutarate(2-)' SubClassOf 'chemical entity' '2-hydroxyglutarate(2-)' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_263516 Progressive myoclonic epilepsy type 3 'Progressive myoclonic epilepsy type 3' SubClassOf 'Neuronal ceroid lipofuscinosis' 'Progressive myoclonic epilepsy type 3' SubClassOf 'Progressive myoclonic epilepsy' 'Progressive myoclonic epilepsy type 3' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 'Progressive myoclonic epilepsy type 3' SubClassOf 'Neuronal ceroid lipofuscinosis' 'Progressive myoclonic epilepsy type 3' SubClassOf 'Progressive myoclonic epilepsy' 'Progressive myoclonic epilepsy type 3' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' http://www.orpha.net/ORDO/Orphanet_2128 Hemihypertrophy 'Hemihypertrophy' SubClassOf 'Macroglossia' 'Hemihypertrophy' SubClassOf 'Overgrowth syndrome' 'Hemihypertrophy' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Hemihypertrophy' SubClassOf 'Macroglossia' 'Hemihypertrophy' SubClassOf 'Overgrowth syndrome' 'Hemihypertrophy' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' http://www.orpha.net/ORDO/Orphanet_3459 Wilson-Turner syndrome 'Wilson-Turner syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Wilson-Turner syndrome' SubClassOf 'Syndromic obesity' 'Wilson-Turner syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Wilson-Turner syndrome' SubClassOf 'Syndromic obesity' 'Wilson-Turner syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 http://www.orpha.net/ORDO/Orphanet_3456 Wildervanck syndrome 'Wildervanck syndrome' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Wildervanck syndrome' SubClassOf 'Dysostosis with predominant vertebral and costal involvement' 'Wildervanck syndrome' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Wildervanck syndrome' SubClassOf 'Dysostosis with predominant vertebral and costal involvement' 'Wildervanck syndrome' SubClassOf 'disease has feature' some http://purl.obolibrary.org/obo/MONDO_0001029 http://www.orpha.net/ORDO/Orphanet_2124 Cavernous hemangiomas of face - supraumbilical midline raphe 'Cavernous hemangiomas of face - supraumbilical midline raphe' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Cavernous hemangiomas of face - supraumbilical midline raphe' SubClassOf 'Malformation syndrome with skin/mucosae involvement' http://www.orpha.net/ORDO/Orphanet_3455 Wiedemann-Rautenstrauch syndrome 'Wiedemann-Rautenstrauch syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Wiedemann-Rautenstrauch syndrome' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Wiedemann-Rautenstrauch syndrome' SubClassOf 'Genetic lipodystrophy' 'Wiedemann-Rautenstrauch syndrome' SubClassOf 'Secondary ectropion' 'Wiedemann-Rautenstrauch syndrome' SubClassOf 'Premature aging' 'Wiedemann-Rautenstrauch syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Wiedemann-Rautenstrauch syndrome' SubClassOf 'Genetic lipodystrophy' 'Wiedemann-Rautenstrauch syndrome' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Wiedemann-Rautenstrauch syndrome' SubClassOf 'Secondary ectropion' 'Wiedemann-Rautenstrauch syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Wiedemann-Rautenstrauch syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Wiedemann-Rautenstrauch syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015333 'Wiedemann-Rautenstrauch syndrome' SubClassOf 'Developmental anomaly of metabolic origin' 'Wiedemann-Rautenstrauch syndrome' SubClassOf 'Premature aging' http://www.orpha.net/ORDO/Orphanet_238583 Hyperphenylalaninemia 'Hyperphenylalaninemia' SubClassOf 'Disorder of pterin metabolism' 'Hyperphenylalaninemia' SubClassOf 'Neurometabolic disease' 'Hyperphenylalaninemia' SubClassOf 'Phenylketonuria' 'Hyperphenylalaninemia' SubClassOf 'Disorder of pterin metabolism' http://purl.obolibrary.org/obo/CLO_0029916 GM15144 'GM15144' SubClassOf 'cultured cell' 'GM15144' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/HP_0002079 Hypoplasia of the corpus callosum 'Hypoplasia of the corpus callosum' SubClassOf 'abnormality of brain morphology' 'Hypoplasia of the corpus callosum' SubClassOf 'abnormality of brain morphology' http://purl.obolibrary.org/obo/CLO_0016608 GM17758 'GM17758' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17758' SubClassOf 'cultured cell' 'GM17758' SubClassOf 'has_quality' some 'female' http://www.ebi.ac.uk/efo/EFO_0009062 Temple-Baraitser syndrome 'Temple-Baraitser syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Temple-Baraitser syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/CLO_0016607 GM17759 'GM17759' SubClassOf 'has_quality' some 'male' 'GM17759' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17759' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0009063 Wolfram-like syndrome 'Wolfram-like syndrome' SubClassOf 'Autosomal recessive syndromic optic atrophy' 'Wolfram-like syndrome' SubClassOf 'Autosomal recessive syndromic optic atrophy' http://www.ebi.ac.uk/efo/EFO_0009064 X-linked erythropoietic protoporphyria 'X-linked erythropoietic protoporphyria' SubClassOf 'Porphyria' 'X-linked erythropoietic protoporphyria' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019142 'X-linked erythropoietic protoporphyria' SubClassOf 'Porphyria' http://www.ebi.ac.uk/efo/EFO_0009065 calcium oxalate urolithiasis 'calcium oxalate urolithiasis' SubClassOf 'disease' 'calcium oxalate urolithiasis' SubClassOf 'disease' http://www.ebi.ac.uk/efo/EFO_0009060 Spinocerebellar ataxia type 43 'Spinocerebellar ataxia type 43' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' 'Spinocerebellar ataxia type 43' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' http://www.ebi.ac.uk/efo/EFO_0009061 TELO2-related intellectual disability-neurodevelopmental disorder 'TELO2-related intellectual disability-neurodevelopmental disorder' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'TELO2-related intellectual disability-neurodevelopmental disorder' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_2134 Atypical hemolytic-uremic syndrome 'Atypical hemolytic-uremic syndrome' SubClassOf 'Genetic thrombotic microangiopathy' 'Atypical hemolytic-uremic syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003832 'Atypical hemolytic-uremic syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Atypical hemolytic-uremic syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001549 'Atypical hemolytic-uremic syndrome' SubClassOf 'Genetic thrombotic microangiopathy' http://www.orpha.net/ORDO/Orphanet_2133 Hemoglobin E disease 'Hemoglobin E disease' SubClassOf 'Hemoglobinopathy' 'Hemoglobin E disease' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Hemoglobin E disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002280 'Hemoglobin E disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019050 http://www.orpha.net/ORDO/Orphanet_3464 Woodhouse-Sakati syndrome 'Woodhouse-Sakati syndrome' SubClassOf 'Rare disorder with dystonia and other neurologic or systemic manifestation' 'Woodhouse-Sakati syndrome' SubClassOf 'Neurodegeneration with brain iron accumulation' 'Woodhouse-Sakati syndrome' SubClassOf 'Rare disorder with hypogonadotropic hypogonadism' 'Woodhouse-Sakati syndrome' SubClassOf 'Rare disorder with dystonia and other neurologic or systemic manifestation' 'Woodhouse-Sakati syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Woodhouse-Sakati syndrome' SubClassOf 'Neurodegeneration with brain iron accumulation' 'Woodhouse-Sakati syndrome' SubClassOf 'Rare disorder with hypogonadotropic hypogonadism' 'Woodhouse-Sakati syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015888 http://www.orpha.net/ORDO/Orphanet_2132 Hemoglobin C disease 'Hemoglobin C disease' SubClassOf 'Hemoglobinopathy' 'Hemoglobin C disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019050 'Hemoglobin C disease' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Hemoglobin C disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002280 http://www.orpha.net/ORDO/Orphanet_3463 Wolfram syndrome 'Wolfram syndrome' SubClassOf 'Syndromic genetic deafness' 'Wolfram syndrome' SubClassOf 'disease has feature' some 'type I diabetes mellitus' 'Wolfram syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018609 'Wolfram syndrome' SubClassOf 'Syndromic genetic deafness' 'Wolfram syndrome' SubClassOf 'Inborn errors of metabolism' http://www.orpha.net/ORDO/Orphanet_2131 Alternating hemiplegia of childhood 'Alternating hemiplegia of childhood' SubClassOf 'Alternating hemiplegia' 'Alternating hemiplegia of childhood' SubClassOf 'hemiplegia' 'Alternating hemiplegia of childhood' SubClassOf 'Alternating hemiplegia' http://purl.obolibrary.org/obo/CHEBI_48864 benzothiadiazole 'benzothiadiazole' SubClassOf 'has_role' some 'drug role' http://www.orpha.net/ORDO/Orphanet_2130 Hemimelia 'Hemimelia' SubClassOf 'Non-syndromic limb reduction defect' 'Hemimelia' SubClassOf 'Non-syndromic limb reduction defect' http://www.orpha.net/ORDO/Orphanet_3460 Torg-Winchester syndrome 'Torg-Winchester syndrome' SubClassOf 'Multicentric osteolysis-nodulosis-arthropathy spectrum' 'Torg-Winchester syndrome' SubClassOf 'Multicentric osteolysis-nodulosis-arthropathy spectrum' http://www.orpha.net/ORDO/Orphanet_251523 Recurrent infections - inflammatory syndrome due to zinc metabolism disorder 'Recurrent infections - inflammatory syndrome due to zinc metabolism disorder' SubClassOf 'Disorder of zinc metabolism' 'Recurrent infections - inflammatory syndrome due to zinc metabolism disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0008691 'Recurrent infections - inflammatory syndrome due to zinc metabolism disorder' SubClassOf 'Disorder of zinc metabolism' http://purl.obolibrary.org/obo/PO_0006204 sporocyte 'sporocyte' SubClassOf 'native plant cell' 'sporocyte' SubClassOf 'native plant cell' http://www.orpha.net/ORDO/Orphanet_2139 Hernández-Aguirre Negrete syndrome 'Hernández-Aguirre Negrete syndrome' SubClassOf 'Ehlers-Danlos syndrome' http://www.orpha.net/ORDO/Orphanet_2138 46,XX ovotesticular disorder of sex development '46,XX ovotesticular disorder of sex development' SubClassOf '46,XX disorder of gonadal development' '46,XX ovotesticular disorder of sex development' SubClassOf 'Gonadal dysgenesis of gynecological interest' '46,XX ovotesticular disorder of sex development' SubClassOf 'Female infertility due to gonadal dysgenesis' '46,XX ovotesticular disorder of sex development' SubClassOf '46,XX disorder of gonadal development' '46,XX ovotesticular disorder of sex development' SubClassOf 'Gonadal dysgenesis of gynecological interest' '46,XX ovotesticular disorder of sex development' SubClassOf 'Female infertility due to gonadal dysgenesis' http://www.orpha.net/ORDO/Orphanet_263508 COG1-CDG 'COG1-CDG' SubClassOf 'Dysostosis with predominant vertebral and costal involvement' 'COG1-CDG' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'COG1-CDG' SubClassOf 'Defect in conserved oligomeric Golgi complex' 'COG1-CDG' SubClassOf 'Congenital disorder of glycosylation with cardiac malformation as a major feature' 'COG1-CDG' SubClassOf 'Congenital disorder of glycosylation-related bone disorder' 'COG1-CDG' SubClassOf 'Congenital disorder of glycosylation with deafness as a major feature' 'COG1-CDG' SubClassOf 'Dysostosis with predominant vertebral and costal involvement' 'COG1-CDG' SubClassOf 'congenital disorder of glycosylation type II' 'COG1-CDG' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'COG1-CDG' SubClassOf 'Defect in conserved oligomeric Golgi complex' 'COG1-CDG' SubClassOf 'Congenital disorder of glycosylation with cardiac malformation as a major feature' 'COG1-CDG' SubClassOf 'Congenital disorder of glycosylation-related bone disorder' 'COG1-CDG' SubClassOf 'Congenital disorder of glycosylation with deafness as a major feature' http://www.orpha.net/ORDO/Orphanet_2136 Hennekam syndrome 'Hennekam syndrome' SubClassOf 'Syndromic lymphedema' 'Hennekam syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Hennekam syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Hennekam syndrome' SubClassOf 'Syndromic lymphedema' 'Hennekam syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018722 'Hennekam syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018035 'Hennekam syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Hennekam syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0009332 'Hennekam syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Hennekam syndrome' SubClassOf 'Milroy disease' http://www.orpha.net/ORDO/Orphanet_3467 Hereditary xanthinuria 'Hereditary xanthinuria' SubClassOf 'Disorder of purine metabolism' 'Hereditary xanthinuria' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'Hereditary xanthinuria' SubClassOf 'Disorder of purine metabolism' 'Hereditary xanthinuria' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000721 'Hereditary xanthinuria' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0000721 and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) 'Hereditary xanthinuria' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' http://www.orpha.net/ORDO/Orphanet_84271 Sporadic idiopathic steroid-resistant nephrotic syndrome 'Sporadic idiopathic steroid-resistant nephrotic syndrome' SubClassOf 'Primary glomerular disease' 'Sporadic idiopathic steroid-resistant nephrotic syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018170 'Sporadic idiopathic steroid-resistant nephrotic syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044765 http://www.orpha.net/ORDO/Orphanet_2135 Hennekam-Beemer syndrome 'Hennekam-Beemer syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007 http://www.orpha.net/ORDO/Orphanet_3466 WT limb-blood syndrome 'WT limb-blood syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001713 http://purl.obolibrary.org/obo/HP_0002088 abnormality of the lung 'abnormality of the lung' EquivalentTo 'has part' some ('quality' and ('has component' some 'abnormal') and ('inheres in part of' some 'lung')) http://www.orpha.net/ORDO/Orphanet_238557 Chuvash erythrocytosis 'Chuvash erythrocytosis' SubClassOf 'Congenital secondary polycythemia' 'Chuvash erythrocytosis' SubClassOf 'Genetic polycythemia' 'Chuvash erythrocytosis' SubClassOf 'Congenital secondary polycythemia' http://www.ebi.ac.uk/efo/EFO_0009095 psychological measurement 'psychological measurement' SubClassOf 'measurement' 'psychological measurement' SubClassOf 'is_about' some 'brain' http://www.ebi.ac.uk/efo/EFO_0009096 negative domain measurement 'negative domain measurement' SubClassOf 'psychological measurement' 'negative domain measurement' SubClassOf 'psychological measurement' 'negative domain measurement' SubClassOf 'is_about' some 'brain' http://www.ebi.ac.uk/efo/EFO_0009097 positive domain measurement 'positive domain measurement' SubClassOf 'psychological measurement' 'positive domain measurement' SubClassOf 'is_about' some 'brain' 'positive domain measurement' SubClassOf 'psychological measurement' http://purl.obolibrary.org/obo/HP_0002086 Abnormality of the respiratory system 'Abnormality of the respiratory system' EquivalentTo 'has part' some ('quality' and ('has component' some 'abnormal') and ('inheres in part of' some 'respiratory system')) http://www.ebi.ac.uk/efo/EFO_0009098 cognitive domain measurement 'cognitive domain measurement' SubClassOf 'psychological measurement' 'cognitive domain measurement' SubClassOf 'psychological measurement' 'cognitive domain measurement' SubClassOf 'is_about' some 'brain' http://www.orpha.net/ORDO/Orphanet_251515 Distal arthrogryposis type 10 'Distal arthrogryposis type 10' SubClassOf 'Distal arthrogryposis' 'Distal arthrogryposis type 10' SubClassOf 'Distal arthrogryposis' http://www.ebi.ac.uk/efo/EFO_0009092 breast milk measurement 'breast milk measurement' SubClassOf 'measurement' 'breast milk measurement' SubClassOf 'is_about' some 'breast' 'breast milk measurement' SubClassOf 'measurement' http://www.ebi.ac.uk/efo/EFO_0009093 choroidal melanoma 'choroidal melanoma' SubClassOf 'Uveal Melanoma' 'choroidal melanoma' SubClassOf 'has_disease_location' some ('eye' or ('part_of' some 'eye')) 'choroidal melanoma' SubClassOf 'Uveal Melanoma' http://www.ebi.ac.uk/efo/EFO_0009094 idiopathic dilated cardiomyopathy 'idiopathic dilated cardiomyopathy' SubClassOf 'dilated cardiomyopathy' 'idiopathic dilated cardiomyopathy' SubClassOf 'has_disease_location' some ('heart' or ('part_of' some 'heart')) 'idiopathic dilated cardiomyopathy' SubClassOf 'dilated cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_2145 Craniosynostosis, Herrmann-Opitz type 'Craniosynostosis, Herrmann-Opitz type' SubClassOf 'Syndromic craniosynostosis' 'Craniosynostosis, Herrmann-Opitz type' SubClassOf 'Syndromic craniosynostosis' http://www.orpha.net/ORDO/Orphanet_2143 Donnai-Barrow syndrome 'Donnai-Barrow syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015880 'Donnai-Barrow syndrome' SubClassOf 'autosomal recessive disease' 'Donnai-Barrow syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015216 'Donnai-Barrow syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007 http://www.orpha.net/ORDO/Orphanet_3474 CHIME syndrome 'CHIME syndrome' SubClassOf 'Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' 'CHIME syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'CHIME syndrome' SubClassOf 'Congenital disorder of glycosylation with cardiac malformation as a major feature' 'CHIME syndrome' SubClassOf 'Congenital disorder of glycosylation with deafness as a major feature' 'CHIME syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'CHIME syndrome' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' 'CHIME syndrome' SubClassOf 'Rare eye disease due to a differentiation anomaly' 'CHIME syndrome' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'CHIME syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'CHIME syndrome' SubClassOf 'Congenital disorder of glycosylation with skin involvement' 'CHIME syndrome' SubClassOf 'Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' 'CHIME syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'CHIME syndrome' SubClassOf 'Rare syndromic dyslipidemia' 'CHIME syndrome' SubClassOf 'Congenital disorder of glycosylation with cardiac malformation as a major feature' 'CHIME syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'CHIME syndrome' SubClassOf 'Congenital disorder of glycosylation with deafness as a major feature' 'CHIME syndrome' SubClassOf 'Rare eye disease due to a differentiation anomaly' 'CHIME syndrome' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' 'CHIME syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'CHIME syndrome' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'CHIME syndrome' SubClassOf 'Congenital disorder of glycosylation with skin involvement' http://purl.obolibrary.org/obo/CHEBI_46215 O(4')-sulfo-L-tyrosine 'O(4')-sulfo-L-tyrosine' SubClassOf 'chemical entity' 'O(4')-sulfo-L-tyrosine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_48876 muscarinic antagonist 'muscarinic antagonist' SubClassOf 'inheres_in' some 'chemical entity' http://www.orpha.net/ORDO/Orphanet_3473 Zimmermann-Laband syndrome 'Zimmermann-Laband syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Zimmermann-Laband syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Zimmermann-Laband syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Zimmermann-Laband syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Zimmermann-Laband syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Zimmermann-Laband syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' http://www.ebi.ac.uk/efo/EFO_0009077 premature chromatid separation trait 'premature chromatid separation trait' SubClassOf 'genetic disorder' 'premature chromatid separation trait' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_2141 Diaphragmatic defect - limb deficiency - skull defect 'Diaphragmatic defect - limb deficiency - skull defect' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Diaphragmatic defect - limb deficiency - skull defect' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015880 'Diaphragmatic defect - limb deficiency - skull defect' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015216 'Diaphragmatic defect - limb deficiency - skull defect' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_3472 Yunis-Varon syndrome 'Yunis-Varon syndrome' SubClassOf 'Cleidocranial dysplasia and isolated cranial ossification defect' 'Yunis-Varon syndrome' SubClassOf 'Cleidocranial dysplasia and isolated cranial ossification defect' 'Yunis-Varon syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 http://www.ebi.ac.uk/efo/EFO_0009078 stag1-related disorder 'stag1-related disorder' SubClassOf 'genetic disorder' 'stag1-related disorder' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_3471 Young syndrome 'Young syndrome' SubClassOf 'Rare genetic disorder with obstructive azoospermia' 'Young syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015118 'Young syndrome' SubClassOf 'Rare genetic disorder with obstructive azoospermia' 'Young syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018396 http://www.ebi.ac.uk/efo/EFO_0009079 white-sutton syndrome 'white-sutton syndrome' SubClassOf 'Autosomal dominant non-syndromic intellectual disability' 'white-sutton syndrome' SubClassOf 'Autosomal dominant non-syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_2149 Nodular neuronal heterotopia 'Nodular neuronal heterotopia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Nodular neuronal heterotopia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015572 http://www.orpha.net/ORDO/Orphanet_2148 Lissencephaly type 1 due to doublecortin gene mutation 'Lissencephaly type 1 due to doublecortin gene mutation' SubClassOf 'X-linked syndromic intellectual disability' 'Lissencephaly type 1 due to doublecortin gene mutation' SubClassOf 'Classic lissencephaly' 'Lissencephaly type 1 due to doublecortin gene mutation' SubClassOf 'X-linked syndromic intellectual disability' 'Lissencephaly type 1 due to doublecortin gene mutation' SubClassOf 'Subcortical band heterotopia' 'Lissencephaly type 1 due to doublecortin gene mutation' SubClassOf 'Classic lissencephaly' http://www.orpha.net/ORDO/Orphanet_263501 COG4-CDG 'COG4-CDG' SubClassOf 'Defect in conserved oligomeric Golgi complex' 'COG4-CDG' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'COG4-CDG' SubClassOf 'Congenital disorder of glycosylation with hepatic involvement' 'COG4-CDG' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' 'COG4-CDG' SubClassOf 'congenital disorder of glycosylation type II' 'COG4-CDG' SubClassOf 'Defect in conserved oligomeric Golgi complex' 'COG4-CDG' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'COG4-CDG' SubClassOf 'Congenital disorder of glycosylation with hepatic involvement' 'COG4-CDG' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' http://www.orpha.net/ORDO/Orphanet_238569 Autosomal recessive early-onset inflammatory bowel disease 'Autosomal recessive early-onset inflammatory bowel disease' SubClassOf 'inflammatory bowel disease' 'Autosomal recessive early-onset inflammatory bowel disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016542 http://www.ebi.ac.uk/efo/EFO_0009085 arterial occlusive disease 'arterial occlusive disease' SubClassOf 'has_disease_location' some ('artery' or ('part_of' some 'artery')) http://www.ebi.ac.uk/efo/EFO_0009087 non-typhoidal Salmonella bacteremia 'non-typhoidal Salmonella bacteremia' SubClassOf 'bacteriemia' 'non-typhoidal Salmonella bacteremia' SubClassOf 'bacteriemia' 'non-typhoidal Salmonella bacteremia' SubClassOf 'has_disease_location' some ('blood' or ('part_of' some 'blood')) http://www.ebi.ac.uk/efo/EFO_0009080 x-linked ichthyosis with steryl-sulfatase deficiency 'x-linked ichthyosis with steryl-sulfatase deficiency' SubClassOf 'Rare genetic skin disease' 'x-linked ichthyosis with steryl-sulfatase deficiency' SubClassOf 'Rare genetic skin disease' http://www.ebi.ac.uk/efo/EFO_0009081 Heterotaxia 'Heterotaxia' SubClassOf 'growth abnormality' 'Heterotaxia' SubClassOf 'growth abnormality' http://purl.obolibrary.org/obo/HP_0002094 Dyspnea 'Dyspnea' SubClassOf 'Abnormality of the respiratory system' 'Dyspnea' SubClassOf 'Abnormality of the respiratory system' http://www.ebi.ac.uk/efo/EFO_0009082 Pilomatrixoma 'Pilomatrixoma' SubClassOf 'skin neoplasm' 'Pilomatrixoma' SubClassOf 'skin neoplasm' http://purl.obolibrary.org/obo/HP_0002093 Respiratory insufficiency 'Respiratory insufficiency' SubClassOf 'Abnormality of the respiratory system' 'Respiratory insufficiency' SubClassOf 'Abnormality of the respiratory system' http://purl.obolibrary.org/obo/CLO_0016643 GM17780 'GM17780' SubClassOf 'has_quality' some 'female' 'GM17780' SubClassOf 'cultured cell' 'GM17780' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/CLO_0016646 GM17771 'GM17771' SubClassOf 'has_quality' some 'male' 'GM17771' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17771' SubClassOf 'cultured cell' http://purl.obolibrary.org/obo/CLO_0016645 GM17773 'GM17773' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17773' SubClassOf 'has_quality' some 'female' 'GM17773' SubClassOf 'cultured cell' http://purl.obolibrary.org/obo/CLO_0016648 GM17769 'GM17769' SubClassOf 'has_quality' some 'male' 'GM17769' SubClassOf 'cultured cell' 'GM17769' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/CLO_0016647 GM17770 'GM17770' SubClassOf 'has_quality' some 'male' 'GM17770' SubClassOf 'cultured cell' 'GM17770' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://www.orpha.net/ORDO/Orphanet_3406 Ulerythema ophryogenesis 'Ulerythema ophryogenesis' SubClassOf 'Keratosis pilaris atrophicans' 'Ulerythema ophryogenesis' SubClassOf 'Keratosis pilaris atrophicans' http://www.orpha.net/ORDO/Orphanet_3405 Umbilical cord ulceration - intestinal atresia 'Umbilical cord ulceration - intestinal atresia' SubClassOf 'Syndromic intestinal malformation' 'Umbilical cord ulceration - intestinal atresia' SubClassOf 'Syndromic intestinal malformation' http://www.orpha.net/ORDO/Orphanet_3404 Ulbright-Hodes syndrome 'Ulbright-Hodes syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Ulbright-Hodes syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Ulbright-Hodes syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Ulbright-Hodes syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Ulbright-Hodes syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Ulbright-Hodes syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' http://www.orpha.net/ORDO/Orphanet_3402 Transient tyrosinemia of the newborn 'Transient tyrosinemia of the newborn' SubClassOf 'Disorder of tyrosine metabolism' 'Transient tyrosinemia of the newborn' SubClassOf 'Disorder of tyrosine metabolism' http://purl.obolibrary.org/obo/CLO_0016642 GM17782 'GM17782' SubClassOf 'has_quality' some 'female' 'GM17782' SubClassOf 'cultured cell' 'GM17782' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/CLO_0016641 GM17774 'GM17774' SubClassOf 'has_quality' some 'male' 'GM17774' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17774' SubClassOf 'cultured cell' http://purl.obolibrary.org/obo/HP_0002027 abdominal pain 'abdominal pain' EquivalentTo 'pain in abdomen' http://purl.obolibrary.org/obo/CHEBI_84415 acetyltaurine 'acetyltaurine' SubClassOf 'amide' 'acetyltaurine' SubClassOf 'amide' http://purl.obolibrary.org/obo/DOID_10718 giardiasis 'giardiasis' SubClassOf 'parasitic intestinal disease' 'giardiasis' SubClassOf 'parasitic intestinal disease' 'giardiasis' SubClassOf 'has_participant' some 'Giardia intestinalis' 'giardiasis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002428 http://www.ebi.ac.uk/efo/EFO_0009099 arousal domain measurement 'arousal domain measurement' SubClassOf 'psychological measurement' 'arousal domain measurement' SubClassOf 'is_about' some 'brain' 'arousal domain measurement' SubClassOf 'psychological measurement' http://www.orpha.net/ORDO/Orphanet_263558 Generalized peeling skin syndrome type C 'Generalized peeling skin syndrome type C' SubClassOf 'Generalized peeling skin syndrome' 'Generalized peeling skin syndrome type C' SubClassOf 'Generalized peeling skin syndrome' http://www.orpha.net/ORDO/Orphanet_3417 Van den Bosch syndrome 'Van den Bosch syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Van den Bosch syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Van den Bosch syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 'Van den Bosch syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019271 http://www.orpha.net/ORDO/Orphanet_3416 Hyperostosis corticalis generalisata 'Hyperostosis corticalis generalisata' SubClassOf 'Primary bone dysplasia with increased bone density' 'Hyperostosis corticalis generalisata' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002185 'Hyperostosis corticalis generalisata' SubClassOf 'Primary bone dysplasia with increased bone density' http://www.orpha.net/ORDO/Orphanet_275543 L1 syndrome 'L1 syndrome' SubClassOf 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' 'L1 syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'L1 syndrome' SubClassOf 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' 'L1 syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016055 'L1 syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_3412 VACTERL with hydrocephalus 'VACTERL with hydrocephalus' SubClassOf 'Syndromic anorectal malformation' 'VACTERL with hydrocephalus' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'VACTERL with hydrocephalus' SubClassOf 'X-linked syndromic intellectual disability' 'VACTERL with hydrocephalus' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'VACTERL with hydrocephalus' SubClassOf 'VACTERL/VATER association' 'VACTERL with hydrocephalus' SubClassOf 'X-linked syndromic intellectual disability' 'VACTERL with hydrocephalus' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'VACTERL with hydrocephalus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 http://www.orpha.net/ORDO/Orphanet_3411 Double uterus - hemivagina - renal agenesis 'Double uterus - hemivagina - renal agenesis' SubClassOf 'Syndromic urogenital tract malformation' 'Double uterus - hemivagina - renal agenesis' SubClassOf 'Syndromic renal or urinary tract malformation' 'Double uterus - hemivagina - renal agenesis' SubClassOf 'Syndromic urogenital tract malformation' 'Double uterus - hemivagina - renal agenesis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015846 'Double uterus - hemivagina - renal agenesis' SubClassOf 'Syndromic renal or urinary tract malformation' http://www.orpha.net/ORDO/Orphanet_3409 Urban-Rogers-Meyer syndrome 'Urban-Rogers-Meyer syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Urban-Rogers-Meyer syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Urban-Rogers-Meyer syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Urban-Rogers-Meyer syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_3408 Upington disease 'Upington disease' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'Upington disease' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' http://purl.obolibrary.org/obo/HP_0002031 Abnormality of esophagus morphology 'Abnormality of esophagus morphology' SubClassOf 'Abnormality of the digestive system' 'Abnormality of esophagus morphology' SubClassOf 'Abnormality of the digestive system' http://purl.obolibrary.org/obo/CHEBI_24898 isoleucine 'isoleucine' SubClassOf 'amino acid' 'isoleucine' SubClassOf 'amino acid' http://www.orpha.net/ORDO/Orphanet_3429 Verloove Vanhorick-Brubakk syndrome 'Verloove Vanhorick-Brubakk syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Verloove Vanhorick-Brubakk syndrome' SubClassOf 'Orofacial clefting syndrome' 'Verloove Vanhorick-Brubakk syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 'Verloove Vanhorick-Brubakk syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Verloove Vanhorick-Brubakk syndrome' SubClassOf 'Orofacial clefting syndrome' http://www.orpha.net/ORDO/Orphanet_263548 Peeling skin syndrome type A 'Peeling skin syndrome type A' SubClassOf 'Generalized peeling skin syndrome' 'Peeling skin syndrome type A' SubClassOf 'Generalized peeling skin syndrome' http://www.orpha.net/ORDO/Orphanet_275534 Myostatin-related muscle hypertrophy 'Myostatin-related muscle hypertrophy' SubClassOf 'muscular disease' 'Myostatin-related muscle hypertrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003847 'Myostatin-related muscle hypertrophy' SubClassOf 'disease has feature' some 'Myostatin-related muscle hypertrophy' 'Myostatin-related muscle hypertrophy' SubClassOf 'has_disease_location' some 'skeletal muscle organ' 'Myostatin-related muscle hypertrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003939 http://www.orpha.net/ORDO/Orphanet_3426 Double outlet right ventricle 'Double outlet right ventricle' SubClassOf 'Genetic cardiac anomaly' 'Double outlet right ventricle' SubClassOf 'Genetic cardiac anomaly' 'Double outlet right ventricle' SubClassOf 'Conotruncal heart malformations' 'Double outlet right ventricle' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002070 http://www.orpha.net/ORDO/Orphanet_3424 Velo-facial-skeletal syndrome 'Velo-facial-skeletal syndrome' SubClassOf 'Orofacial clefting syndrome' 'Velo-facial-skeletal syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Velo-facial-skeletal syndrome' SubClassOf 'Orofacial clefting syndrome' 'Velo-facial-skeletal syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Velo-facial-skeletal syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 http://www.orpha.net/ORDO/Orphanet_97593 Pseudohypoparathyroidism 'Pseudohypoparathyroidism' SubClassOf 'Genetic renal tubular disease' 'Pseudohypoparathyroidism' SubClassOf 'Developmental anomaly of metabolic origin' 'Pseudohypoparathyroidism' SubClassOf 'Genetic hypoparathyroidism' 'Pseudohypoparathyroidism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019744 'Pseudohypoparathyroidism' SubClassOf 'Genetic renal tubular disease' 'Pseudohypoparathyroidism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004689 'Pseudohypoparathyroidism' SubClassOf 'Developmental anomaly of metabolic origin' 'Pseudohypoparathyroidism' SubClassOf 'Genetic hypoparathyroidism' http://www.orpha.net/ORDO/Orphanet_96263 48,XXXY syndrome '48,XXXY syndrome' SubClassOf 'Male infertility due to gonadal dysgenesis' '48,XXXY syndrome' SubClassOf 'Sex chromosome disorder of sex development' '48,XXXY syndrome' SubClassOf 'Syndromic urogenital tract malformation' '48,XXXY syndrome' SubClassOf 'X chromosome number anomaly with male phenotype' '48,XXXY syndrome' SubClassOf 'Male infertility due to gonadal dysgenesis' '48,XXXY syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 '48,XXXY syndrome' SubClassOf 'Sex chromosome disorder of sex development' '48,XXXY syndrome' SubClassOf 'Syndromic urogenital tract malformation' '48,XXXY syndrome' SubClassOf 'X chromosome number anomaly with male phenotype' '48,XXXY syndrome' SubClassOf 'Rare genetic neurological disorder' '48,XXXY syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 http://www.orpha.net/ORDO/Orphanet_96264 49,XXXXY syndrome '49,XXXXY syndrome' SubClassOf 'X chromosome number anomaly with male phenotype' '49,XXXXY syndrome' SubClassOf 'Syndromic urogenital tract malformation' '49,XXXXY syndrome' SubClassOf 'Male infertility due to gonadal dysgenesis' '49,XXXXY syndrome' SubClassOf 'Sex chromosome disorder of sex development' '49,XXXXY syndrome' SubClassOf 'Rare genetic neurological disorder' '49,XXXXY syndrome' SubClassOf 'X chromosome number anomaly with male phenotype' '49,XXXXY syndrome' SubClassOf 'Syndromic urogenital tract malformation' '49,XXXXY syndrome' SubClassOf 'Male infertility due to gonadal dysgenesis' '49,XXXXY syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 '49,XXXXY syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 '49,XXXXY syndrome' SubClassOf 'Sex chromosome disorder of sex development' http://www.orpha.net/ORDO/Orphanet_263553 Peeling skin syndrome type B 'Peeling skin syndrome type B' SubClassOf 'Generalized peeling skin syndrome' 'Peeling skin syndrome type B' SubClassOf 'Generalized peeling skin syndrome' http://www.orpha.net/ORDO/Orphanet_96265 Leydig cell hypoplasia due to complete LH resistance 'Leydig cell hypoplasia due to complete LH resistance' SubClassOf 'Leydig cell hypoplasia' 'Leydig cell hypoplasia due to complete LH resistance' SubClassOf http://purl.obolibrary.org/obo/MONDO_0009384 http://www.orpha.net/ORDO/Orphanet_96266 Leydig cell hypoplasia due to partial LH resistance 'Leydig cell hypoplasia due to partial LH resistance' SubClassOf 'Leydig cell hypoplasia' 'Leydig cell hypoplasia due to partial LH resistance' SubClassOf http://purl.obolibrary.org/obo/MONDO_0009384 http://www.orpha.net/ORDO/Orphanet_2101 Grubben-de Cock-Borghgraef syndrome 'Grubben-de Cock-Borghgraef syndrome' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Grubben-de Cock-Borghgraef syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 http://purl.obolibrary.org/obo/CLO_0016635 GM17779 'GM17779' SubClassOf 'cultured cell' 'GM17779' SubClassOf 'has_quality' some 'female' 'GM17779' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/CLO_0016636 GM17776 'GM17776' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17776' SubClassOf 'cultured cell' 'GM17776' SubClassOf 'has_quality' some 'male' http://purl.obolibrary.org/obo/CLO_0016638 GM17775 'GM17775' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17775' SubClassOf 'has_quality' some 'female' 'GM17775' SubClassOf 'cultured cell' http://www.orpha.net/ORDO/Orphanet_2108 Hallermann-Streiff syndrome 'Hallermann-Streiff syndrome' SubClassOf 'Genetic malformation syndrome with short stature' 'Hallermann-Streiff syndrome' SubClassOf 'Slender bone dysplasia' 'Hallermann-Streiff syndrome' SubClassOf 'Ectodermal malformation syndrome associated with ocular features' 'Hallermann-Streiff syndrome' SubClassOf 'Craniofacial anomaly with cataract' 'Hallermann-Streiff syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Hallermann-Streiff syndrome' SubClassOf 'Premature aging' 'Hallermann-Streiff syndrome' SubClassOf 'Congenital absence of the eyebrow/eyelashes' 'Hallermann-Streiff syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 'Hallermann-Streiff syndrome' SubClassOf 'Genetic malformation syndrome with short stature' 'Hallermann-Streiff syndrome' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'Hallermann-Streiff syndrome' SubClassOf 'Slender bone dysplasia' 'Hallermann-Streiff syndrome' SubClassOf 'Ectodermal malformation syndrome associated with ocular features' 'Hallermann-Streiff syndrome' SubClassOf 'Craniofacial anomaly with cataract' 'Hallermann-Streiff syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Hallermann-Streiff syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007 'Hallermann-Streiff syndrome' SubClassOf 'Premature aging' 'Hallermann-Streiff syndrome' SubClassOf 'Congenital absence of the eyebrow/eyelashes' http://www.orpha.net/ORDO/Orphanet_262206 Partial duplication of chromosome 4 'Partial duplication of chromosome 4' SubClassOf 'Partial autosomal trisomy/tetrasomy' 'Partial duplication of chromosome 4' SubClassOf 'Partial autosomal trisomy/tetrasomy' http://www.orpha.net/ORDO/Orphanet_3439 Von Voss-Cherstvoy syndrome 'Von Voss-Cherstvoy syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Von Voss-Cherstvoy syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_2107 Hall-Riggs syndrome 'Hall-Riggs syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Hall-Riggs syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Hall-Riggs syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Hall-Riggs syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 http://www.orpha.net/ORDO/Orphanet_275523 Dianzani autoimmune lymphoproliferative disease 'Dianzani autoimmune lymphoproliferative disease' SubClassOf 'Lymphoproliferative syndrome' 'Dianzani autoimmune lymphoproliferative disease' SubClassOf 'Lymphoproliferative syndrome' http://www.orpha.net/ORDO/Orphanet_3437 Vogt-Koyanagi-Harada disease 'Vogt-Koyanagi-Harada disease' SubClassOf 'Eyebrow/eyelashes pigmentation anomaly' 'Vogt-Koyanagi-Harada disease' SubClassOf 'type II hypersensitivity reaction disease' 'Vogt-Koyanagi-Harada disease' SubClassOf 'Eyebrow/eyelashes pigmentation anomaly' 'Vogt-Koyanagi-Harada disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Vogt-Koyanagi-Harada disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0031012 'Vogt-Koyanagi-Harada disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 'Vogt-Koyanagi-Harada disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015916 'Vogt-Koyanagi-Harada disease' SubClassOf 'panuveitis' 'Vogt-Koyanagi-Harada disease' SubClassOf 'type II hypersensitivity reaction disease' http://www.orpha.net/ORDO/Orphanet_3434 MMEP syndrome 'MMEP syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'MMEP syndrome' SubClassOf 'Syndromic microphthalmia' 'MMEP syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'MMEP syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'MMEP syndrome' SubClassOf 'Syndromic microphthalmia' http://www.orpha.net/ORDO/Orphanet_2102 GTP cyclohydrolase I deficiency 'GTP cyclohydrolase I deficiency' SubClassOf 'Hyperphenylalaninemia' 'GTP cyclohydrolase I deficiency' SubClassOf 'Autosomal recessive dopa-responsive dystonia' 'GTP cyclohydrolase I deficiency' SubClassOf 'Hyperphenylalaninemia' 'GTP cyclohydrolase I deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0045014 http://www.orpha.net/ORDO/Orphanet_3433 Microcephaly - brachydactyly - kyphoscoliosis 'Microcephaly - brachydactyly - kyphoscoliosis' SubClassOf 'Syndrome with brachydactyly' 'Microcephaly - brachydactyly - kyphoscoliosis' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Microcephaly - brachydactyly - kyphoscoliosis' SubClassOf 'Syndrome with brachydactyly' 'Microcephaly - brachydactyly - kyphoscoliosis' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Microcephaly - brachydactyly - kyphoscoliosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Microcephaly - brachydactyly - kyphoscoliosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 http://www.orpha.net/ORDO/Orphanet_262211 Partial trisomy/tetrasomy of chromosome 5 'Partial trisomy/tetrasomy of chromosome 5' SubClassOf 'Partial autosomal trisomy/tetrasomy' 'Partial trisomy/tetrasomy of chromosome 5' SubClassOf 'Partial autosomal trisomy/tetrasomy' http://www.orpha.net/ORDO/Orphanet_263543 Generalized peeling skin syndrome 'Generalized peeling skin syndrome' SubClassOf 'Peeling skin syndrome' 'Generalized peeling skin syndrome' SubClassOf 'Peeling skin syndrome' http://www.orpha.net/ORDO/Orphanet_275517 Autoimmune lymphoproliferative syndrome with recurrent viral infections 'Autoimmune lymphoproliferative syndrome with recurrent viral infections' SubClassOf 'Lymphoproliferative syndrome' 'Autoimmune lymphoproliferative syndrome with recurrent viral infections' SubClassOf 'Immunodeficiency syndrome with autoimmunity' 'Autoimmune lymphoproliferative syndrome with recurrent viral infections' SubClassOf 'Autoimmune lymphoproliferative syndrome' http://www.orpha.net/ORDO/Orphanet_166472 Monogenic disease with epilepsy 'Monogenic disease with epilepsy' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0000275 and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'epilepsy') 'Monogenic disease with epilepsy' SubClassOf 'Motor stereotypies' 'Monogenic disease with epilepsy' SubClassOf 'epilepsy' 'Monogenic disease with epilepsy' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'epilepsy' 'Monogenic disease with epilepsy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000275 http://www.ebi.ac.uk/efo/EFO_1001152 renal osteodystrophy 'renal osteodystrophy' SubClassOf 'kidney disease' 'renal osteodystrophy' SubClassOf 'rickets' 'renal osteodystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001530 'renal osteodystrophy' SubClassOf 'kidney disease' http://www.ebi.ac.uk/efo/EFO_1001151 renal glycosuria 'renal glycosuria' SubClassOf 'kidney disease' 'renal glycosuria' SubClassOf 'kidney disease' http://purl.obolibrary.org/obo/UBERON_0001507 biceps brachii 'biceps brachii' SubClassOf 'animal component' 'biceps brachii' SubClassOf http://purl.obolibrary.org/obo/UBERON_0004255 'biceps brachii' SubClassOf 'part_of' some 'musculature of body' http://www.ebi.ac.uk/efo/EFO_1001150 renal artery obstruction 'renal artery obstruction' SubClassOf 'vascular disease' 'renal artery obstruction' SubClassOf 'kidney disease' 'renal artery obstruction' SubClassOf 'has_disease_location' some ('renal artery' or ('part_of' some 'renal artery')) 'renal artery obstruction' SubClassOf 'kidney disease' 'renal artery obstruction' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002286 http://www.orpha.net/ORDO/Orphanet_308487 Generalized galactose epimerase deficiency 'Generalized galactose epimerase deficiency' SubClassOf 'Galactose epimerase deficiency' 'Generalized galactose epimerase deficiency' SubClassOf 'Galactose epimerase deficiency' http://www.ebi.ac.uk/efo/EFO_1001159 Rh isoimmunization 'Rh isoimmunization' SubClassOf 'hematologic disease' 'Rh isoimmunization' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002901 'Rh isoimmunization' SubClassOf 'hematologic disease' http://www.ebi.ac.uk/efo/EFO_1001158 retinopathy of prematurity 'retinopathy of prematurity' SubClassOf 'retinopathy' 'retinopathy of prematurity' SubClassOf 'has_disease_location' some ('retina' or ('part_of' some 'retina')) 'retinopathy of prematurity' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'retinopathy of prematurity' SubClassOf 'retinopathy' http://www.ebi.ac.uk/efo/EFO_1001157 retinal vein occlusion 'retinal vein occlusion' SubClassOf 'eye disease' 'retinal vein occlusion' SubClassOf 'eye disease' 'retinal vein occlusion' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002089 http://www.ebi.ac.uk/efo/EFO_1001156 retinal vasculitis 'retinal vasculitis' SubClassOf 'vasculitis' 'retinal vasculitis' SubClassOf 'eye disease' 'retinal vasculitis' SubClassOf 'vasculitis' 'retinal vasculitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002311 'retinal vasculitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002708 'retinal vasculitis' SubClassOf 'has_disease_location' some ('retina' or ('part_of' some 'retina')) http://www.ebi.ac.uk/efo/EFO_1001155 retinal drusen 'retinal drusen' SubClassOf 'eye disease' 'retinal drusen' SubClassOf 'sensory system disease' 'retinal drusen' SubClassOf 'has_disease_location' some ('retina' or ('part_of' some 'retina')) 'retinal drusen' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002175 'retinal drusen' SubClassOf 'sensory system disease' http://www.orpha.net/ORDO/Orphanet_166475 Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes 'Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes' SubClassOf 'epilepsy' 'Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://www.ebi.ac.uk/efo/EFO_1001154 retinal artery occlusion 'retinal artery occlusion' SubClassOf 'eye disease' 'retinal artery occlusion' SubClassOf 'eye disease' 'retinal artery occlusion' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002089 'retinal artery occlusion' SubClassOf 'has_disease_location' some ('retina' or ('part_of' some 'retina')) http://www.orpha.net/ORDO/Orphanet_180772 Rare disease with autism 'Rare disease with autism' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Rare disease with autism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000594 http://www.orpha.net/ORDO/Orphanet_166478 Cerebral malformation with epilepsy 'Cerebral malformation with epilepsy' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0016054 and ('disease has feature' some 'epilepsy') 'Cerebral malformation with epilepsy' SubClassOf 'disease has feature' some 'epilepsy' 'Cerebral malformation with epilepsy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016054 'Cerebral malformation with epilepsy' SubClassOf 'epilepsy' http://www.ebi.ac.uk/efo/EFO_1001153 renovascular hypertension 'renovascular hypertension' SubClassOf 'renal hypertension' 'renovascular hypertension' SubClassOf 'renal hypertension' 'renovascular hypertension' SubClassOf 'has_disease_location' some ('kidney' or ('part_of' some 'kidney')) http://www.orpha.net/ORDO/Orphanet_178461 X-linked myopathy with postural muscle atrophy 'X-linked myopathy with postural muscle atrophy' SubClassOf 'Progressive muscular dystrophy' 'X-linked myopathy with postural muscle atrophy' SubClassOf 'Emery-Dreifuss muscular dystrophy' http://www.orpha.net/ORDO/Orphanet_178464 Hereditary proximal myopathy with early respiratory failure 'Hereditary proximal myopathy with early respiratory failure' SubClassOf 'Qualitative or quantitative defects of titin' 'Hereditary proximal myopathy with early respiratory failure' SubClassOf 'Progressive muscular dystrophy' 'Hereditary proximal myopathy with early respiratory failure' SubClassOf 'Inclusion myopathy' 'Hereditary proximal myopathy with early respiratory failure' SubClassOf 'Qualitative or quantitative defects of titin' 'Hereditary proximal myopathy with early respiratory failure' SubClassOf 'Progressive muscular dystrophy' 'Hereditary proximal myopathy with early respiratory failure' SubClassOf 'Inclusion myopathy' http://www.orpha.net/ORDO/Orphanet_178469 Autosomal dominant non-syndromic intellectual disability 'Autosomal dominant non-syndromic intellectual disability' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 'Autosomal dominant non-syndromic intellectual disability' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000509 http://purl.obolibrary.org/obo/UBERON_0001516 abdominal aorta 'abdominal aorta' SubClassOf 'develops_from' some 'trunk mesenchyme' 'abdominal aorta' SubClassOf 'develops_from' some 'endothelium' 'abdominal aorta' SubClassOf 'develops_from' some 'aorta' 'abdominal aorta' SubClassOf 'develops_from' some 'artery' 'abdominal aorta' SubClassOf 'part_of' some 'aorta' http://www.ebi.ac.uk/efo/EFO_1001163 root caries 'root caries' SubClassOf 'dental caries' 'root caries' SubClassOf 'dental caries' 'root caries' SubClassOf 'has_disease_location' some ('tooth' or ('part_of' some 'tooth')) 'root caries' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002233 http://www.ebi.ac.uk/efo/EFO_1001162 rickettsiosis 'rickettsiosis' SubClassOf 'Rickettsiaceae infectious disease' 'rickettsiosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021678 'rickettsiosis' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'rickettsiosis' SubClassOf 'bacterial disease' http://www.ebi.ac.uk/efo/EFO_1001161 rheumatic heart disease 'rheumatic heart disease' SubClassOf 'heart disease' 'rheumatic heart disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021166 'rheumatic heart disease' SubClassOf 'heart disease' http://www.orpha.net/ORDO/Orphanet_166463 Epilepsy syndrome 'Epilepsy syndrome' SubClassOf 'epilepsy' 'Epilepsy syndrome' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://www.ebi.ac.uk/efo/EFO_1001160 rheumatic fever 'rheumatic fever' SubClassOf 'skeletal system disease' 'rheumatic fever' SubClassOf 'connective tissue disease' 'rheumatic fever' SubClassOf 'skeletal system disease' 'rheumatic fever' SubClassOf 'bacterial disease' 'rheumatic fever' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015938 http://purl.obolibrary.org/obo/UBERON_0001515 thoracic aorta 'thoracic aorta' SubClassOf 'part_of' some 'aorta' 'thoracic aorta' SubClassOf 'part_of' some 'trunk' http://www.ebi.ac.uk/efo/EFO_1001169 scurvy 'scurvy' SubClassOf 'nutritional deficiency disease' 'scurvy' SubClassOf 'nutritional deficiency disease' 'scurvy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024298 http://www.ebi.ac.uk/efo/EFO_1001168 scrapie 'scrapie' SubClassOf 'prion disease' 'scrapie' SubClassOf 'prion disease' http://www.ebi.ac.uk/efo/EFO_1001167 scimitar syndrome 'scimitar syndrome' SubClassOf 'heart disease' 'scimitar syndrome' SubClassOf 'genetic disorder' 'scimitar syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017705 'scimitar syndrome' SubClassOf 'has_disease_location' some ('heart' or ('part_of' some 'heart')) 'scimitar syndrome' SubClassOf 'congenital anomaly of the great arteries' 'scimitar syndrome' SubClassOf 'genetic disorder' 'scimitar syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 http://www.ebi.ac.uk/efo/EFO_1001166 sciatic neuropathy 'sciatic neuropathy' SubClassOf 'mononeuropathy' 'sciatic neuropathy' SubClassOf 'mononeuropathy' http://www.ebi.ac.uk/efo/EFO_1001165 Schnitzler syndrome 'Schnitzler syndrome' SubClassOf 'immune system disease' 'Schnitzler syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015158 'Schnitzler syndrome' SubClassOf 'immune system disease' 'Schnitzler syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0025513 'Schnitzler syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002459 http://www.ebi.ac.uk/efo/EFO_1001164 SAPHO syndrome 'SAPHO syndrome' SubClassOf 'disease' 'SAPHO syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017370 'SAPHO syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017954 http://www.orpha.net/ORDO/Orphanet_166466 Neurocutaneous syndrome with epilepsy 'Neurocutaneous syndrome with epilepsy' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'epilepsy' 'Neurocutaneous syndrome with epilepsy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0042983 'Neurocutaneous syndrome with epilepsy' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0042983 and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'epilepsy') http://www.orpha.net/ORDO/Orphanet_238505 Autosomal recessive lymphoproliferative disease 'Autosomal recessive lymphoproliferative disease' SubClassOf 'Lymphoproliferative syndrome' 'Autosomal recessive lymphoproliferative disease' SubClassOf 'Lymphoproliferative syndrome' 'Autosomal recessive lymphoproliferative disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018814 http://purl.obolibrary.org/obo/CHEBI_24852 insecticide 'insecticide' SubClassOf 'inheres_in' some 'chemical entity' http://www.ebi.ac.uk/efo/EFO_1001174 secondary hypertrophic osteoarthropathy 'secondary hypertrophic osteoarthropathy' SubClassOf 'bone disease' 'secondary hypertrophic osteoarthropathy' SubClassOf 'bone disease' 'secondary hypertrophic osteoarthropathy' SubClassOf 'joint disease' http://www.ebi.ac.uk/efo/EFO_1001173 secondary hyperparathyroidism 'secondary hyperparathyroidism' SubClassOf 'endocrine system disease' 'secondary hyperparathyroidism' SubClassOf 'endocrine system disease' 'secondary hyperparathyroidism' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0001530 or http://purl.obolibrary.org/obo/MONDO_0001750 'secondary hyperparathyroidism' SubClassOf 'hyperparathyroidism' 'secondary hyperparathyroidism' SubClassOf 'has_disease_location' some ('parathyroid' or ('part_of' some 'parathyroid')) http://purl.obolibrary.org/obo/UBERON_0001529 brachiocephalic artery 'brachiocephalic artery' SubClassOf 'artery' 'brachiocephalic artery' SubClassOf http://purl.obolibrary.org/obo/UBERON_0004573 http://www.ebi.ac.uk/efo/EFO_1001172 sebaceous gland neoplasm 'sebaceous gland neoplasm' SubClassOf 'skin neoplasm' 'sebaceous gland neoplasm' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002297 'sebaceous gland neoplasm' SubClassOf 'sebaceous gland disease' 'sebaceous gland neoplasm' SubClassOf 'has_disease_location' some ('zone of skin' or ('part_of' some 'zone of skin')) http://www.ebi.ac.uk/efo/EFO_1001171 sebaceous adenocarcinoma 'sebaceous adenocarcinoma' SubClassOf 'adenocarcinoma' 'sebaceous adenocarcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0037735 'sebaceous adenocarcinoma' SubClassOf 'skin appendage carcinoma' 'sebaceous adenocarcinoma' SubClassOf 'adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_1001170 obsolete_sea-blue histiocyte syndrome 'obsolete_sea-blue histiocyte syndrome' SubClassOf 'obsolete class' 'obsolete_sea-blue histiocyte syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_309796 Rhizomelic chondrodysplasia punctata type 2 'Rhizomelic chondrodysplasia punctata type 2' SubClassOf 'Rhizomelic chondrodysplasia punctata' 'Rhizomelic chondrodysplasia punctata type 2' SubClassOf 'Rhizomelic chondrodysplasia punctata' http://www.orpha.net/ORDO/Orphanet_308463 Disorder of fructose metabolism 'Disorder of fructose metabolism' SubClassOf 'Disorder of carbohydrate metabolism' 'Disorder of fructose metabolism' SubClassOf 'Disorder of carbohydrate metabolism' http://www.ebi.ac.uk/efo/EFO_1001179 sialadenitis 'sialadenitis' SubClassOf 'salivary gland disease' 'sialadenitis' SubClassOf 'has_disease_location' some ('saliva-secreting gland' or ('part_of' some 'saliva-secreting gland')) 'sialadenitis' SubClassOf 'participates_in' some 'inflammatory response' 'sialadenitis' SubClassOf 'salivary gland disease' 'sialadenitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002052 http://www.ebi.ac.uk/efo/EFO_1001178 shoulder impingement syndrome 'shoulder impingement syndrome' SubClassOf 'joint disease' 'shoulder impingement syndrome' SubClassOf 'joint disease' http://www.ebi.ac.uk/efo/EFO_1001177 septic abortion 'septic abortion' SubClassOf 'abortion' 'septic abortion' SubClassOf 'abortion' http://www.ebi.ac.uk/efo/EFO_1001176 sensorineural hearing loss 'sensorineural hearing loss' SubClassOf 'sensory system disease' 'sensorineural hearing loss' SubClassOf 'sensory system disease' 'sensorineural hearing loss' SubClassOf 'hearing loss' http://www.ebi.ac.uk/efo/EFO_1001175 secondary Parkinson disease 'secondary Parkinson disease' SubClassOf 'neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_308467 Disorder of galactose metabolism 'Disorder of galactose metabolism' SubClassOf 'Disorder of carbohydrate metabolism' 'Disorder of galactose metabolism' SubClassOf 'Disorder of carbohydrate metabolism' http://www.ebi.ac.uk/efo/EFO_1001185 smooth muscle tumor 'smooth muscle tumor' SubClassOf 'neoplasm' 'smooth muscle tumor' SubClassOf 'muscular disease' 'smooth muscle tumor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021545 'smooth muscle tumor' SubClassOf 'has_disease_location' some ('smooth muscle' or ('part_of' some 'smooth muscle')) http://www.ebi.ac.uk/efo/EFO_1001184 small cell sarcoma 'small cell sarcoma' SubClassOf 'sarcoma' 'small cell sarcoma' SubClassOf 'sarcoma' http://www.orpha.net/ORDO/Orphanet_307141 Diffuse palmoplantar keratoderma 'Diffuse palmoplantar keratoderma' SubClassOf 'Hereditary palmoplantar keratoderma' 'Diffuse palmoplantar keratoderma' SubClassOf 'Hereditary palmoplantar keratoderma' http://purl.obolibrary.org/obo/UBERON_0000204 ventral part of telencephalon 'ventral part of telencephalon' SubClassOf 'telencephalon' 'ventral part of telencephalon' SubClassOf 'telencephalon' http://www.ebi.ac.uk/efo/EFO_1001183 skin appendage carcinoma 'skin appendage carcinoma' SubClassOf 'skin carcinoma' 'skin appendage carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002297 'skin appendage carcinoma' SubClassOf 'carcinoma' 'skin appendage carcinoma' SubClassOf 'has_disease_location' some ('zone of skin' or ('part_of' some 'zone of skin')) 'skin appendage carcinoma' SubClassOf 'skin carcinoma' http://www.ebi.ac.uk/efo/EFO_1001182 silo filler's disease 'silo filler's disease' SubClassOf 'lung disease' 'silo filler's disease' SubClassOf 'lung disease' http://purl.obolibrary.org/obo/CHEBI_71179 O-tiglylcarnitine 'O-tiglylcarnitine' SubClassOf 'chemical entity' 'O-tiglylcarnitine' SubClassOf 'chemical entity' http://www.ebi.ac.uk/efo/EFO_1001181 sigmoid neoplasm 'sigmoid neoplasm' SubClassOf 'colonic neoplasm' 'sigmoid neoplasm' SubClassOf 'has_disease_location' some ('sigmoid colon' or ('part_of' some 'sigmoid colon')) 'sigmoid neoplasm' SubClassOf 'colonic neoplasm' http://www.ebi.ac.uk/efo/EFO_1001180 sialolithiasis 'sialolithiasis' SubClassOf 'salivary gland disease' 'sialolithiasis' SubClassOf 'has_disease_location' some ('saliva-secreting gland' or ('part_of' some 'saliva-secreting gland')) 'sialolithiasis' SubClassOf 'salivary gland disease' http://www.orpha.net/ORDO/Orphanet_308473 Erythrocyte galactose epimerase deficiency 'Erythrocyte galactose epimerase deficiency' SubClassOf 'Galactose epimerase deficiency' 'Erythrocyte galactose epimerase deficiency' SubClassOf 'Galactose epimerase deficiency' http://www.orpha.net/ORDO/Orphanet_180766 Malformative syndrome with dentinogenesis imperfecta 'Malformative syndrome with dentinogenesis imperfecta' SubClassOf 'Rare genetic odontologic disease' 'Malformative syndrome with dentinogenesis imperfecta' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Malformative syndrome with dentinogenesis imperfecta' SubClassOf 'Rare genetic odontologic disease' http://www.ebi.ac.uk/efo/EFO_1001189 spermatocele 'spermatocele' SubClassOf 'male reproductive system disease' 'spermatocele' SubClassOf 'reproductive system disease' 'spermatocele' SubClassOf 'male reproductive system disease' 'spermatocele' SubClassOf 'has_disease_location' some ('epididymis' or ('part_of' some 'epididymis')) http://www.orpha.net/ORDO/Orphanet_166487 Cerebral diseases of vascular origin with epilepsy 'Cerebral diseases of vascular origin with epilepsy' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Cerebral diseases of vascular origin with epilepsy' SubClassOf 'epilepsy' http://www.ebi.ac.uk/efo/EFO_1001188 space motion sickness 'space motion sickness' SubClassOf 'motion sickness' 'space motion sickness' SubClassOf 'motion sickness' http://www.ebi.ac.uk/efo/EFO_1001187 somatostatinoma 'somatostatinoma' SubClassOf 'carcinoid tumor' 'somatostatinoma' SubClassOf 'carcinoid tumor' 'somatostatinoma' SubClassOf 'pancreatic neuroendocrine tumor' http://www.ebi.ac.uk/efo/EFO_1001186 Sneddon syndrome 'Sneddon syndrome' SubClassOf 'vascular disease' 'Sneddon syndrome' SubClassOf 'vascular disease' 'Sneddon syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019293 'Sneddon syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000473 'Sneddon syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017841 'Sneddon syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019546 'Sneddon syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020676 'Sneddon syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015939 'Sneddon syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000603 http://www.orpha.net/ORDO/Orphanet_307148 Isolated diffuse palmoplantar keratoderma 'Isolated diffuse palmoplantar keratoderma' SubClassOf 'Diffuse palmoplantar keratoderma' 'Isolated diffuse palmoplantar keratoderma' SubClassOf 'Diffuse palmoplantar keratoderma' 'Isolated diffuse palmoplantar keratoderma' EquivalentTo 'Diffuse palmoplantar keratoderma' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021128) 'Isolated diffuse palmoplantar keratoderma' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021128 http://purl.obolibrary.org/obo/UBERON_0001532 internal carotid artery 'internal carotid artery' SubClassOf 'artery' 'internal carotid artery' SubClassOf 'part_of' some 'artery' 'internal carotid artery' SubClassOf 'develops_from' some 'pharyngeal arch artery' 'internal carotid artery' SubClassOf http://purl.obolibrary.org/obo/UBERON_0003496 'internal carotid artery' SubClassOf 'carotid artery' http://www.ebi.ac.uk/efo/EFO_1001196 subdural empyema 'subdural empyema' SubClassOf 'central nervous system disease' 'subdural empyema' SubClassOf 'has_disease_location' some ('central nervous system' or ('part_of' some 'central nervous system')) 'subdural empyema' SubClassOf 'empyema' 'subdural empyema' SubClassOf 'central nervous system infection' 'subdural empyema' SubClassOf 'nervous system disease' http://www.ebi.ac.uk/efo/EFO_1001195 subclavian steal syndrome 'subclavian steal syndrome' SubClassOf 'cerebrovascular disorder' 'subclavian steal syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'subclavian steal syndrome' SubClassOf 'cerebrovascular disorder' http://www.ebi.ac.uk/efo/EFO_1001194 subacute thyroiditis 'subacute thyroiditis' SubClassOf 'thyroid disease' 'subacute thyroiditis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004126 'subacute thyroiditis' SubClassOf 'thyroid disease' http://www.ebi.ac.uk/efo/EFO_1001193 subacute bacterial endocarditis 'subacute bacterial endocarditis' SubClassOf 'endocarditis' 'subacute bacterial endocarditis' SubClassOf 'participates_in' some 'infection' 'subacute bacterial endocarditis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000565 'subacute bacterial endocarditis' SubClassOf 'endocarditis' http://www.ebi.ac.uk/efo/EFO_1001192 struma ovarii 'struma ovarii' SubClassOf 'Ovarian Germ Cell Tumor' 'struma ovarii' SubClassOf 'Ovarian Germ Cell Tumor' 'struma ovarii' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002372 http://www.ebi.ac.uk/efo/EFO_1001191 steatitis 'steatitis' SubClassOf 'animal disease' 'steatitis' SubClassOf 'nutritional deficiency disease' 'steatitis' SubClassOf 'animal disease' http://www.orpha.net/ORDO/Orphanet_308442 Vitamin B12-responsive methylmalonic acidemia, type cblDv2 'Vitamin B12-responsive methylmalonic acidemia, type cblDv2' SubClassOf 'Vitamin B12-responsive methylmalonic acidemia' 'Vitamin B12-responsive methylmalonic acidemia, type cblDv2' SubClassOf 'Vitamin B12-responsive methylmalonic acidemia' http://www.ebi.ac.uk/efo/EFO_1001190 splenic infarction 'splenic infarction' SubClassOf 'splenic disease' 'splenic infarction' SubClassOf 'digestive system disease' 'splenic infarction' SubClassOf 'splenic disease' 'splenic infarction' SubClassOf 'has_disease_location' some ('spleen' or ('part_of' some 'spleen')) 'splenic infarction' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020674 http://www.orpha.net/ORDO/Orphanet_141136 Hemifacial microsomia 'Hemifacial microsomia' SubClassOf 'Oculo-auriculo-vertebral spectrum' 'Hemifacial microsomia' SubClassOf 'Oculo-auriculo-vertebral spectrum' http://www.ebi.ac.uk/efo/EFO_1001199 subvalvular aortic stenosis 'subvalvular aortic stenosis' SubClassOf 'aortic stenosis' 'subvalvular aortic stenosis' SubClassOf 'aortic stenosis' http://www.orpha.net/ORDO/Orphanet_167762 Rare disease with dentinogenesis imperfecta 'Rare disease with dentinogenesis imperfecta' SubClassOf 'Rare genetic odontologic disease' 'Rare disease with dentinogenesis imperfecta' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020014 'Rare disease with dentinogenesis imperfecta' SubClassOf 'Rare genetic odontologic disease' http://www.ebi.ac.uk/efo/EFO_1001198 substernal goiter 'substernal goiter' SubClassOf 'goiter' 'substernal goiter' SubClassOf 'goiter' http://www.ebi.ac.uk/efo/EFO_1001197 subependymal glioma 'subependymal glioma' SubClassOf 'benign neoplasm' 'subependymal glioma' SubClassOf 'benign neoplasm' http://www.orpha.net/ORDO/Orphanet_141132 Oculo-auriculo-vertebral spectrum 'Oculo-auriculo-vertebral spectrum' SubClassOf 'Otomandibular dysplasia' 'Oculo-auriculo-vertebral spectrum' SubClassOf 'Otomandibular dysplasia' http://www.orpha.net/ORDO/Orphanet_167759 Hereditary dentin defect 'Hereditary dentin defect' SubClassOf 'Rare odontal or periodontal disorder' 'Hereditary dentin defect' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018488 'Hereditary dentin defect' SubClassOf 'Rare odontal or periodontal disorder' http://www.orpha.net/ORDO/Orphanet_238536 Congenital secondary polycythemia 'Congenital secondary polycythemia' SubClassOf 'Secondary polycythemia' 'Congenital secondary polycythemia' SubClassOf 'Secondary polycythemia' http://www.orpha.net/ORDO/Orphanet_309778 Defect in V-ATPase 'Defect in V-ATPase' SubClassOf 'Disorder of multiple glycosylation' 'Defect in V-ATPase' SubClassOf 'Disorder of multiple glycosylation' http://www.orpha.net/ORDO/Orphanet_25968 Benign occipital epilepsy 'Benign occipital epilepsy' SubClassOf 'Childhood-onset epilepsy syndrome' 'Benign occipital epilepsy' SubClassOf 'Childhood-onset epilepsy syndrome' http://purl.obolibrary.org/obo/PO_0006220 central endosperm 'central endosperm' SubClassOf 'endosperm' 'central endosperm' SubClassOf 'endosperm' http://www.orpha.net/ORDO/Orphanet_308448 Aminoacylase deficiency 'Aminoacylase deficiency' SubClassOf 'Cerebral organic aciduria' 'Aminoacylase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044976 'Aminoacylase deficiency' SubClassOf 'Cerebral organic aciduria' http://www.orpha.net/ORDO/Orphanet_251510 46,XY partial gonadal dysgenesis '46,XY partial gonadal dysgenesis' SubClassOf '46,XY disorder of gonadal development' '46,XY partial gonadal dysgenesis' SubClassOf 'Female infertility due to gonadal dysgenesis' '46,XY partial gonadal dysgenesis' SubClassOf 'Male infertility due to gonadal dysgenesis' '46,XY partial gonadal dysgenesis' SubClassOf 'Gonadal dysgenesis of gynecological interest' '46,XY partial gonadal dysgenesis' SubClassOf '46,XY disorder of gonadal development' '46,XY partial gonadal dysgenesis' SubClassOf 'Female infertility due to gonadal dysgenesis' '46,XY partial gonadal dysgenesis' SubClassOf 'Male infertility due to gonadal dysgenesis' '46,XY partial gonadal dysgenesis' SubClassOf 'Gonadal dysgenesis of gynecological interest' http://www.orpha.net/ORDO/Orphanet_308451 Disorder of neutral amino acid transport 'Disorder of neutral amino acid transport' SubClassOf 'Disorder of amino acid absorption and transport' 'Disorder of neutral amino acid transport' SubClassOf 'Disorder of amino acid absorption and transport' http://purl.obolibrary.org/obo/CHEBI_24809 indole-3-carboxylic acid 'indole-3-carboxylic acid' SubClassOf 'chemical entity' 'indole-3-carboxylic acid' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_141145 Hemifacial hypertrophy 'Hemifacial hypertrophy' SubClassOf 'Macroglossia' 'Hemifacial hypertrophy' SubClassOf 'Macroglossia' http://www.orpha.net/ORDO/Orphanet_309789 Rhizomelic chondrodysplasia punctata type 1 'Rhizomelic chondrodysplasia punctata type 1' SubClassOf 'Rhizomelic chondrodysplasia punctata' 'Rhizomelic chondrodysplasia punctata type 1' SubClassOf 'Monogenic disease with epilepsy' 'Rhizomelic chondrodysplasia punctata type 1' SubClassOf 'Rhizomelic chondrodysplasia punctata' 'Rhizomelic chondrodysplasia punctata type 1' SubClassOf 'Peroxisome biogenesis disorder-Zellweger syndrome spectrum' http://www.orpha.net/ORDO/Orphanet_177107 Syndromic hypothyroidism 'Syndromic hypothyroidism' SubClassOf 'Permanent congenital hypothyroidism' 'Syndromic hypothyroidism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Syndromic hypothyroidism' EquivalentTo 'hypothyroidism' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021127) 'Syndromic hypothyroidism' SubClassOf 'Permanent congenital hypothyroidism' http://www.orpha.net/ORDO/Orphanet_308459 Disorder of glycolysis 'Disorder of glycolysis' SubClassOf 'Disorder of carbohydrate metabolism' 'Disorder of glycolysis' SubClassOf 'Pyruvate metabolism disorder' 'Disorder of glycolysis' SubClassOf 'Disorder of carbohydrate metabolism' 'Disorder of glycolysis' SubClassOf 'Disorder of purine or pyrimidine metabolism' http://www.orpha.net/ORDO/Orphanet_141152 Isolated congenital hypoglossia/aglossia 'Isolated congenital hypoglossia/aglossia' SubClassOf 'Hypoglossia/aglossia' 'Isolated congenital hypoglossia/aglossia' SubClassOf 'Hypoglossia/aglossia' http://www.orpha.net/ORDO/Orphanet_25980 X-linked myopathy with excessive autophagy 'X-linked myopathy with excessive autophagy' SubClassOf 'Inclusion myopathy' 'X-linked myopathy with excessive autophagy' SubClassOf 'Progressive muscular dystrophy' 'X-linked myopathy with excessive autophagy' SubClassOf 'Inclusion myopathy' 'X-linked myopathy with excessive autophagy' SubClassOf 'Progressive muscular dystrophy' http://www.orpha.net/ORDO/Orphanet_238510 Lymphoproliferative syndrome 'Lymphoproliferative syndrome' SubClassOf 'Inherited cancer-predisposing syndrome' 'Lymphoproliferative syndrome' SubClassOf 'Immune dysregulation disease with immunodeficiency' 'Lymphoproliferative syndrome' SubClassOf 'Inherited cancer-predisposing syndrome' 'Lymphoproliferative syndrome' SubClassOf 'has_disease_location' some 'hematopoietic system' 'Lymphoproliferative syndrome' SubClassOf 'Immune dysregulation disease with immunodeficiency' http://www.orpha.net/ORDO/Orphanet_308425 Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency 'Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency' SubClassOf 'Methylmalonic acidemia without homocystinuria' 'Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency' SubClassOf 'Methylmalonic acidemia without homocystinuria' http://www.orpha.net/ORDO/Orphanet_238517 Hypotonia - cystinuria type 1 'Hypotonia - cystinuria type 1' SubClassOf 'Disorder of amino acid absorption and transport' 'Hypotonia - cystinuria type 1' SubClassOf 'Homozygous 2p21 microdeletion syndrome' 'Hypotonia - cystinuria type 1' SubClassOf 'Mitochondrial disease' 'Hypotonia - cystinuria type 1' SubClassOf 'Genetic renal tubular disease' 'Hypotonia - cystinuria type 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019744 'Hypotonia - cystinuria type 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004069 'Hypotonia - cystinuria type 1' SubClassOf 'Disorder of amino acid absorption and transport' 'Hypotonia - cystinuria type 1' SubClassOf 'Homozygous 2p21 microdeletion syndrome' 'Hypotonia - cystinuria type 1' SubClassOf 'Genetic renal tubular disease' http://www.orpha.net/ORDO/Orphanet_178400 Distal myopathy with anterior tibial onset 'Distal myopathy with anterior tibial onset' SubClassOf 'Autosomal recessive distal myopathy' 'Distal myopathy with anterior tibial onset' SubClassOf 'Qualitative or quantitative defects of dysferlin' 'Distal myopathy with anterior tibial onset' SubClassOf 'Autosomal recessive distal myopathy' 'Distal myopathy with anterior tibial onset' SubClassOf 'Qualitative or quantitative defects of dysferlin' http://www.orpha.net/ORDO/Orphanet_141163 Glossopalatine ankylosis 'Glossopalatine ankylosis' SubClassOf 'Oromandibular-limb hypogenesis syndrome' 'Glossopalatine ankylosis' SubClassOf 'Oromandibular-limb hypogenesis syndrome' http://purl.obolibrary.org/obo/UBERON_0002827 statoacoustic (VIII) ganglion 'statoacoustic (VIII) ganglion' SubClassOf 'cranial ganglion' http://www.orpha.net/ORDO/Orphanet_238523 Atypical hypotonia - cystinuria syndrome 'Atypical hypotonia - cystinuria syndrome' SubClassOf 'Hypotonia - cystinuria type 1' 'Atypical hypotonia - cystinuria syndrome' SubClassOf 'Hypotonia - cystinuria syndrome' http://purl.obolibrary.org/obo/UBERON_0000016 endocrine pancreas 'endocrine pancreas' SubClassOf 'develops_from' some 'pancreatic bud' 'endocrine pancreas' SubClassOf 'develops_from' some 'gland' 'endocrine pancreas' SubClassOf 'part_of' some 'pancreas' 'endocrine pancreas' SubClassOf 'develops_from' some 'midgut' http://www.orpha.net/ORDO/Orphanet_187 Citrullinemia 'Citrullinemia' SubClassOf 'Disorder of urea cycle metabolism and ammonia detoxification' 'Citrullinemia' SubClassOf 'Disorder of urea cycle metabolism and ammonia detoxification' 'Citrullinemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004739 http://www.orpha.net/ORDO/Orphanet_36899 Myoclonus-dystonia syndrome 'Myoclonus-dystonia syndrome' SubClassOf 'Primary myoclonus' 'Myoclonus-dystonia syndrome' SubClassOf 'Persistent combined dystonia' 'Myoclonus-dystonia syndrome' SubClassOf 'Primary myoclonus' 'Myoclonus-dystonia syndrome' SubClassOf 'Persistent combined dystonia' http://www.orpha.net/ORDO/Orphanet_184 Cherubism 'Cherubism' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'Cherubism' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Cherubism' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'Cherubism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020014 'Cherubism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 'Cherubism' SubClassOf 'Inherited cancer-predisposing syndrome' 'Cherubism' SubClassOf 'Autoinflammatory syndrome with immune deficiency' 'Cherubism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 'Cherubism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017957 'Cherubism' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_181 X-linked hypohidrotic ectodermal dysplasia 'X-linked hypohidrotic ectodermal dysplasia' SubClassOf 'Hypohidrotic ectodermal dysplasia' 'X-linked hypohidrotic ectodermal dysplasia' SubClassOf 'Hypohidrotic ectodermal dysplasia' 'X-linked hypohidrotic ectodermal dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000425 http://www.orpha.net/ORDO/Orphanet_180 Choroideremia 'Choroideremia' SubClassOf 'Unclassified familial retinal dystrophy' 'Choroideremia' SubClassOf 'Unclassified familial retinal dystrophy' 'Choroideremia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001898 'Choroideremia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000425 http://www.orpha.net/ORDO/Orphanet_397951 Microcephaly-thin corpus callosum-intellectual disability syndrome 'Microcephaly-thin corpus callosum-intellectual disability syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Microcephaly-thin corpus callosum-intellectual disability syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Microcephaly-thin corpus callosum-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Microcephaly-thin corpus callosum-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 http://purl.obolibrary.org/obo/UBERON_0000011 parasympathetic nervous system 'parasympathetic nervous system' SubClassOf 'part_of' some 'peripheral nervous system' http://purl.obolibrary.org/obo/UBERON_0000010 peripheral nervous system 'peripheral nervous system' SubClassOf 'part_of' some 'nervous system' http://purl.obolibrary.org/obo/CLO_0028397 ND01173 'ND01173' SubClassOf 'bearer_of' some 'Parkinson's disease' 'ND01173' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'ND01173' SubClassOf 'cultured cell' 'ND01173' SubClassOf 'has_quality' some 'female' http://purl.obolibrary.org/obo/UBERON_0000014 zone of skin 'zone of skin' EquivalentTo 'part_of' some 'zone of skin' 'zone of skin' SubClassOf 'part_of' some 'integumental system' http://purl.obolibrary.org/obo/UBERON_0000013 sympathetic nervous system 'sympathetic nervous system' SubClassOf 'part_of' some 'peripheral nervous system' http://purl.obolibrary.org/obo/UBERON_0001359 cerebrospinal fluid 'cerebrospinal fluid' SubClassOf 'animal component' 'cerebrospinal fluid' SubClassOf 'develops_from' some 'telencephalon' 'cerebrospinal fluid' SubClassOf http://purl.obolibrary.org/obo/UBERON_0007779 'cerebrospinal fluid' SubClassOf 'develops_from' some 'early telencephalic vesicle' 'cerebrospinal fluid' SubClassOf 'develops_from' some 'choroid plexus' http://www.orpha.net/ORDO/Orphanet_357027 Familial retinoblastoma 'Familial retinoblastoma' SubClassOf 'Retinoblastoma' 'Familial retinoblastoma' SubClassOf 'Inherited cancer-predisposing syndrome' 'Familial retinoblastoma' EquivalentTo 'Retinoblastoma' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) 'Familial retinoblastoma' SubClassOf 'Retinoblastoma' 'Familial retinoblastoma' SubClassOf 'Inherited cancer-predisposing syndrome' 'Familial retinoblastoma' SubClassOf 'Genetic eye tumor' http://www.orpha.net/ORDO/Orphanet_199 Cornelia de Lange syndrome 'Cornelia de Lange syndrome' SubClassOf 'Syndrome with a symptomatic strabismus' 'Cornelia de Lange syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Cornelia de Lange syndrome' SubClassOf 'Genetic syndrome with limb reduction defects' 'Cornelia de Lange syndrome' SubClassOf 'Eyebrow hypertrophy' 'Cornelia de Lange syndrome' SubClassOf 'Genetic malformation syndrome with short stature' 'Cornelia de Lange syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Cornelia de Lange syndrome' SubClassOf 'Syndrome with a symptomatic strabismus' 'Cornelia de Lange syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020169 'Cornelia de Lange syndrome' SubClassOf 'Eyebrow hypertrophy' 'Cornelia de Lange syndrome' SubClassOf 'Genetic syndrome with limb reduction defects' 'Cornelia de Lange syndrome' SubClassOf 'Pierre Robin syndrome associated with bone disease' 'Cornelia de Lange syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Cornelia de Lange syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015216 'Cornelia de Lange syndrome' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' 'Cornelia de Lange syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 'Cornelia de Lange syndrome' SubClassOf 'Genetic malformation syndrome with short stature' 'Cornelia de Lange syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Cornelia de Lange syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015880 http://www.orpha.net/ORDO/Orphanet_198 Occipital horn syndrome 'Occipital horn syndrome' SubClassOf 'Cutis laxa' 'Occipital horn syndrome' SubClassOf 'Disorder of copper metabolism' 'Occipital horn syndrome' SubClassOf 'Cutis laxa' 'Occipital horn syndrome' SubClassOf 'Disorder of copper metabolism' 'Occipital horn syndrome' SubClassOf 'Developmental anomaly of metabolic origin' 'Occipital horn syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007 http://purl.obolibrary.org/obo/CLO_0015085 GM17130 'GM17130' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17130' SubClassOf 'cultured cell' 'GM17130' SubClassOf 'has_quality' some 'female' http://www.orpha.net/ORDO/Orphanet_397959 TCR-alpha-beta-positive T-cell deficiency 'TCR-alpha-beta-positive T-cell deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018814 http://purl.obolibrary.org/obo/CLO_0015087 GM17131 'GM17131' SubClassOf 'has_quality' some 'female' 'GM17131' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17131' SubClassOf 'cultured cell' http://www.orpha.net/ORDO/Orphanet_202940 Anomaly of puberty or/and menstrual cycle of genetic origin 'Anomaly of puberty or/and menstrual cycle of genetic origin' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003847 'Anomaly of puberty or/and menstrual cycle of genetic origin' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015860 'Anomaly of puberty or/and menstrual cycle of genetic origin' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0015860 and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) http://www.orpha.net/ORDO/Orphanet_195 Cat-eye syndrome 'Cat-eye syndrome' SubClassOf 'Complex chromosomal rearrangement' 'Cat-eye syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Cat-eye syndrome' SubClassOf 'Syndromic anorectal malformation' 'Cat-eye syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Cat-eye syndrome' SubClassOf 'Syndrome with a symptomatic strabismus' 'Cat-eye syndrome' SubClassOf 'Complex chromosomal rearrangement' 'Cat-eye syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Cat-eye syndrome' SubClassOf 'Syndromic anorectal malformation' 'Cat-eye syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Cat-eye syndrome' SubClassOf 'Syndrome with a symptomatic strabismus' 'Cat-eye syndrome' SubClassOf 'Rare genetic neurological disorder' http://purl.obolibrary.org/obo/CLO_0015088 GM17136 'GM17136' SubClassOf 'cultured cell' 'GM17136' SubClassOf 'has_quality' some 'female' 'GM17136' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://www.orpha.net/ORDO/Orphanet_194 Ocular coloboma 'Ocular coloboma' SubClassOf 'Rare eye disease due to a differentiation anomaly' 'Ocular coloboma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001476 'Ocular coloboma' SubClassOf 'Rare eye disease due to a differentiation anomaly' http://www.orpha.net/ORDO/Orphanet_193 Cohen syndrome 'Cohen syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Cohen syndrome' SubClassOf 'Syndromic obesity' 'Cohen syndrome' SubClassOf 'Constitutional neutropenia with extra-haematopoietic manifestations' 'Cohen syndrome' SubClassOf 'Syndromic myopia' 'Cohen syndrome' SubClassOf 'Syndromic retinitis pigmentosa' 'Cohen syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Cohen syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Cohen syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Cohen syndrome' SubClassOf 'Syndromic obesity' 'Cohen syndrome' SubClassOf 'Constitutional neutropenia with extra-haematopoietic manifestations' 'Cohen syndrome' SubClassOf 'Syndromic retinitis pigmentosa' 'Cohen syndrome' SubClassOf 'Syndromic myopia' http://www.orpha.net/ORDO/Orphanet_192 Coffin-Lowry syndrome 'Coffin-Lowry syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Coffin-Lowry syndrome' SubClassOf 'Syndromic obesity' 'Coffin-Lowry syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Coffin-Lowry syndrome' SubClassOf 'scoliosis' 'Coffin-Lowry syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Coffin-Lowry syndrome' SubClassOf 'Syndromic obesity' 'Coffin-Lowry syndrome' SubClassOf 'epilepsy' 'Coffin-Lowry syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 http://www.orpha.net/ORDO/Orphanet_191 Cockayne syndrome 'Cockayne syndrome' SubClassOf 'Syndromic genetic deafness' 'Cockayne syndrome' SubClassOf 'Genetic neurodegenerative disease' 'Cockayne syndrome' SubClassOf 'Premature aging' 'Cockayne syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Cockayne syndrome' SubClassOf 'Syndromic retinitis pigmentosa' 'Cockayne syndrome' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Cockayne syndrome' SubClassOf 'DNA repair deficiency' 'Cockayne syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 'Cockayne syndrome' SubClassOf 'Premature aging' 'Cockayne syndrome' SubClassOf 'Genetic neurodegenerative disease' 'Cockayne syndrome' SubClassOf 'Developmental anomaly of metabolic origin' 'Cockayne syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004884 'Cockayne syndrome' SubClassOf 'autosomal recessive disease' 'Cockayne syndrome' SubClassOf 'Inborn errors of metabolism' 'Cockayne syndrome' SubClassOf 'Syndromic retinitis pigmentosa' 'Cockayne syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015333 'Cockayne syndrome' SubClassOf 'Syndromic genetic deafness' 'Cockayne syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Cockayne syndrome' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Cockayne syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 http://www.orpha.net/ORDO/Orphanet_190 Coats disease 'Coats disease' SubClassOf 'Congenital vitreoretinal dysplasia' 'Coats disease' SubClassOf 'Secondary glaucoma due to a proliferation and differentiation anomaly' 'Coats disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004348 'Coats disease' SubClassOf 'Congenital vitreoretinal dysplasia' 'Coats disease' SubClassOf 'Secondary glaucoma due to a proliferation and differentiation anomaly' 'Coats disease' SubClassOf 'Genetic central nervous system and retinal vascular disease' http://www.orpha.net/ORDO/Orphanet_397964 Combined immunodeficiency due to MALT1 deficiency 'Combined immunodeficiency due to MALT1 deficiency' SubClassOf 'Combined T and B cell immunodeficiency' 'Combined immunodeficiency due to MALT1 deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018814 http://purl.obolibrary.org/obo/CLO_0015081 GM17132 'GM17132' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17132' SubClassOf 'has_quality' some 'female' 'GM17132' SubClassOf 'cultured cell' http://purl.obolibrary.org/obo/CLO_0015082 GM17133 'GM17133' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17133' SubClassOf 'has_quality' some 'female' 'GM17133' SubClassOf 'cultured cell' http://purl.obolibrary.org/obo/UBERON_0000022 feather 'feather' SubClassOf 'develops_from' some 'epidermis' 'feather' SubClassOf 'part_of' some 'integumental system' http://purl.obolibrary.org/obo/UBERON_0001353 anal region 'anal region' SubClassOf 'develops_from' some 'ectoderm' 'anal region' SubClassOf 'develops_from' some 'endoderm' http://www.ebi.ac.uk/efo/EFO_0009400 presubiculum volume 'presubiculum volume' SubClassOf 'hippocampal volume' 'presubiculum volume' SubClassOf 'hippocampal volume' http://www.ebi.ac.uk/efo/EFO_0009401 hippocampal amigdala transition area volume 'hippocampal amigdala transition area volume' SubClassOf 'hippocampal volume' 'hippocampal amigdala transition area volume' SubClassOf 'hippocampal volume' http://www.ebi.ac.uk/efo/EFO_0009402 hippocampus fimbria volume 'hippocampus fimbria volume' SubClassOf 'hippocampal volume' 'hippocampus fimbria volume' SubClassOf 'hippocampal volume' http://www.orpha.net/ORDO/Orphanet_357034 Unilateral retinoblastoma 'Unilateral retinoblastoma' SubClassOf 'Retinoblastoma' 'Unilateral retinoblastoma' SubClassOf 'Retinoblastoma' http://www.ebi.ac.uk/efo/EFO_0009403 granule cell layer dentate gyrus volume 'granule cell layer dentate gyrus volume' SubClassOf 'hippocampal volume' 'granule cell layer dentate gyrus volume' SubClassOf 'hippocampal volume' http://www.ebi.ac.uk/efo/EFO_0009404 hippocampal fissure volume 'hippocampal fissure volume' SubClassOf 'hippocampal volume' 'hippocampal fissure volume' SubClassOf 'hippocampal volume' http://www.ebi.ac.uk/efo/EFO_0009405 parasubiculum volume 'parasubiculum volume' SubClassOf 'hippocampal volume' 'parasubiculum volume' SubClassOf 'hippocampal volume' http://www.orpha.net/ORDO/Orphanet_397927 Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome 'Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome' SubClassOf 'Malformation of the neurenteric canal, spinal cord and column' 'Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome' SubClassOf 'Malformation of the neurenteric canal, spinal cord and column' http://www.ebi.ac.uk/efo/EFO_0009406 glucose metabolism disease 'glucose metabolism disease' SubClassOf 'metabolic disease' 'glucose metabolism disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024297 'glucose metabolism disease' SubClassOf 'metabolic disease' http://purl.obolibrary.org/obo/CLO_0027048 ND00397 'ND00397' SubClassOf 'cultured cell' 'ND00397' SubClassOf 'has_quality' some 'male' 'ND00397' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://www.orpha.net/ORDO/Orphanet_370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome 'Intellectual disability-facial dysmorphism-hand anomalies syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Intellectual disability-facial dysmorphism-hand anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Intellectual disability-facial dysmorphism-hand anomalies syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Intellectual disability-facial dysmorphism-hand anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 http://purl.obolibrary.org/obo/CLO_0030688 ND00151 'ND00151' SubClassOf 'cultured cell' 'ND00151' SubClassOf 'has_quality' some 'female' 'ND00151' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/UBERON_0002691 ventral tegmental area 'ventral tegmental area' SubClassOf 'part_of' some 'midbrain' 'ventral tegmental area' SubClassOf 'develops_from' some 'midbrain basal plate' 'ventral tegmental area' SubClassOf 'part_of' some 'brainstem' http://www.orpha.net/ORDO/Orphanet_202948 Syndromic microphthalmia 'Syndromic microphthalmia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020147 'Syndromic microphthalmia' SubClassOf 'Syndromic developmental defect of the eye' 'Syndromic microphthalmia' EquivalentTo 'microphthalmia' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021127) 'Syndromic microphthalmia' SubClassOf 'microphthalmia' http://www.orpha.net/ORDO/Orphanet_370015 Spondyloepimetaphyseal dysplasia, Isidor type 'Spondyloepimetaphyseal dysplasia, Isidor type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Spondyloepimetaphyseal dysplasia, Isidor type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_397933 Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome 'Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_357043 Amyotrophic lateral sclerosis type 4 'Amyotrophic lateral sclerosis type 4' SubClassOf 'Genetic neurodegenerative disease' 'Amyotrophic lateral sclerosis type 4' SubClassOf 'amyotrophic lateral sclerosis' 'Amyotrophic lateral sclerosis type 4' SubClassOf 'Genetic motor neuron disease' 'Amyotrophic lateral sclerosis type 4' SubClassOf 'familial amyotrophic lateral sclerosis' http://www.orpha.net/ORDO/Orphanet_397937 Polyglucosan body myopathy 'Polyglucosan body myopathy' SubClassOf 'myopathy' http://purl.obolibrary.org/obo/CHEBI_11805 3-hydroxyisobutyrate '3-hydroxyisobutyrate' SubClassOf 'chemical entity' '3-hydroxyisobutyrate' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_397941 MAN1B1-CDG 'MAN1B1-CDG' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'MAN1B1-CDG' SubClassOf 'Disorder of protein N-glycosylation' 'MAN1B1-CDG' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'MAN1B1-CDG' SubClassOf 'Disorder of protein N-glycosylation' http://www.orpha.net/ORDO/Orphanet_370002 Focal palmoplantar keratoderma with joint keratoses 'Focal palmoplantar keratoderma with joint keratoses' SubClassOf 'Isolated focal palmoplantar keratoderma' 'Focal palmoplantar keratoderma with joint keratoses' SubClassOf 'Isolated focal palmoplantar keratoderma' http://purl.obolibrary.org/obo/UBERON_0000044 dorsal root ganglion 'dorsal root ganglion' SubClassOf 'ganglion' 'dorsal root ganglion' SubClassOf 'part_of' some 'peripheral nervous system' 'dorsal root ganglion' SubClassOf http://purl.obolibrary.org/obo/UBERON_0001800 'dorsal root ganglion' SubClassOf 'develops_from' some 'trunk neural crest' http://purl.obolibrary.org/obo/UBERON_0001377 quadriceps femoris 'quadriceps femoris' SubClassOf 'hindlimb muscle' 'quadriceps femoris' SubClassOf 'part_of' some 'hindlimb' 'quadriceps femoris' SubClassOf 'hindlimb muscle' http://purl.obolibrary.org/obo/UBERON_0001379 vastus lateralis 'vastus lateralis' SubClassOf 'hindlimb muscle' 'vastus lateralis' SubClassOf 'part_of' some 'quadriceps femoris' 'vastus lateralis' SubClassOf 'hindlimb muscle' 'vastus lateralis' SubClassOf 'quadriceps femoris' http://purl.obolibrary.org/obo/UBERON_0001374 biceps femoris 'biceps femoris' SubClassOf 'hindlimb muscle' 'biceps femoris' SubClassOf http://purl.obolibrary.org/obo/UBERON_0002463 'biceps femoris' SubClassOf 'part_of' some 'stylopod' http://purl.obolibrary.org/obo/UBERON_0000045 ganglion 'ganglion' DisjointWith 'basal ganglion' 'ganglion' SubClassOf 'part_of' some 'nervous system' http://www.ebi.ac.uk/efo/EFO_0009422 CXCL5 measurement 'CXCL5 measurement' SubClassOf 'blood protein measurement' 'CXCL5 measurement' SubClassOf 'blood protein measurement' http://www.ebi.ac.uk/efo/EFO_0009423 CXCL6 measurement 'CXCL6 measurement' SubClassOf 'blood protein measurement' 'CXCL6 measurement' SubClassOf 'blood protein measurement' http://www.orpha.net/ORDO/Orphanet_308041 Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature 'Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature' SubClassOf 'Disease with punctate palmoplantar keratoderma as a major feature' 'Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature' EquivalentTo 'autosomal recessive disease' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Punctate palmoplantar keratoderma') 'Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature' SubClassOf 'Disease with punctate palmoplantar keratoderma as a major feature' 'Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature' SubClassOf 'autosomal recessive disease' http://www.ebi.ac.uk/efo/EFO_0009425 Yersinia pestis infectious disease 'Yersinia pestis infectious disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000314 'Yersinia pestis infectious disease' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://www.orpha.net/ORDO/Orphanet_357058 Autosomal recessive cutis laxa type 2A 'Autosomal recessive cutis laxa type 2A' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'Autosomal recessive cutis laxa type 2A' SubClassOf 'Autosomal recessive cutis laxa type 2' 'Autosomal recessive cutis laxa type 2A' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' 'Autosomal recessive cutis laxa type 2A' SubClassOf 'Congenital disorder of glycosylation with skin involvement' 'Autosomal recessive cutis laxa type 2A' SubClassOf 'Defect in V-ATPase' 'Autosomal recessive cutis laxa type 2A' SubClassOf 'Congenital disorder of glycosylation-related bone disorder' 'Autosomal recessive cutis laxa type 2A' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'Autosomal recessive cutis laxa type 2A' SubClassOf 'Autosomal recessive cutis laxa type 2' 'Autosomal recessive cutis laxa type 2A' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' 'Autosomal recessive cutis laxa type 2A' SubClassOf 'Congenital disorder of glycosylation with skin involvement' 'Autosomal recessive cutis laxa type 2A' SubClassOf 'Cerebral organic aciduria' 'Autosomal recessive cutis laxa type 2A' SubClassOf 'Defect in V-ATPase' 'Autosomal recessive cutis laxa type 2A' SubClassOf 'Monogenic disease with epilepsy' 'Autosomal recessive cutis laxa type 2A' SubClassOf 'Congenital disorder of glycosylation-related bone disorder' http://www.ebi.ac.uk/efo/EFO_0009420 CXCL12 measurement 'CXCL12 measurement' SubClassOf 'blood protein measurement' 'CXCL12 measurement' SubClassOf 'blood protein measurement' http://www.ebi.ac.uk/efo/EFO_0009421 CXCL13 measurement 'CXCL13 measurement' SubClassOf 'blood protein measurement' 'CXCL13 measurement' SubClassOf 'blood protein measurement' http://www.orpha.net/ORDO/Orphanet_71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency 'Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency' SubClassOf 'Diazoxide-sensitive diffuse hyperinsulinism' 'Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency' SubClassOf '3-hydroxyacyl-CoA dehydrogenase deficiency' 'Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency' SubClassOf 'Neurometabolic disease' 'Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency' SubClassOf 'Diazoxide-sensitive diffuse hyperinsulinism' 'Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency' SubClassOf 'Cerebral organic aciduria' 'Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency' SubClassOf '3-hydroxyacyl-CoA dehydrogenase deficiency' 'Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency' SubClassOf 'Neurometabolic disease' 'Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016401 http://www.orpha.net/ORDO/Orphanet_371364 Hypotonia-speech impairment-severe cognitive delay syndrome 'Hypotonia-speech impairment-severe cognitive delay syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Hypotonia-speech impairment-severe cognitive delay syndrome' SubClassOf 'Genetic neurodegenerative disease' 'Hypotonia-speech impairment-severe cognitive delay syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Hypotonia-speech impairment-severe cognitive delay syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Hypotonia-speech impairment-severe cognitive delay syndrome' SubClassOf 'Genetic neurodegenerative disease' 'Hypotonia-speech impairment-severe cognitive delay syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 http://www.orpha.net/ORDO/Orphanet_370034 Familial syringomyelia 'Familial syringomyelia' SubClassOf 'Primary syringomyelia' 'Familial syringomyelia' SubClassOf 'Malformation of the neurenteric canal, spinal cord and column' 'Familial syringomyelia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017987 'Familial syringomyelia' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0017987 and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) 'Familial syringomyelia' SubClassOf 'Primary syringomyelia' http://purl.obolibrary.org/obo/UBERON_0001301 epididymis 'epididymis' SubClassOf 'part_of' some 'male reproductive system' 'epididymis' SubClassOf 'develops_from' some 'mesonephros' http://www.ebi.ac.uk/efo/EFO_0009411 CCL13 measurement 'CCL13 measurement' SubClassOf 'blood protein measurement' 'CCL13 measurement' SubClassOf 'blood protein measurement' http://www.ebi.ac.uk/efo/EFO_0009412 interleukin 1 alpha measurement 'interleukin 1 alpha measurement' SubClassOf 'cytokine measurement' 'interleukin 1 alpha measurement' SubClassOf 'cytokine measurement' http://www.orpha.net/ORDO/Orphanet_357064 Autosomal recessive cutis laxa type 2B 'Autosomal recessive cutis laxa type 2B' SubClassOf 'Autosomal recessive cutis laxa type 2' 'Autosomal recessive cutis laxa type 2B' SubClassOf 'Autosomal recessive cutis laxa type 2' http://www.ebi.ac.uk/efo/EFO_0009413 CCL15 measurement 'CCL15 measurement' SubClassOf 'blood protein measurement' 'CCL15 measurement' SubClassOf 'blood protein measurement' http://www.ebi.ac.uk/efo/EFO_0009414 CCL17 measurement 'CCL17 measurement' SubClassOf 'blood protein measurement' 'CCL17 measurement' SubClassOf 'blood protein measurement' http://www.ebi.ac.uk/efo/EFO_0009410 uterine fibroid measurement 'uterine fibroid measurement' SubClassOf 'measurement' 'uterine fibroid measurement' SubClassOf 'is_about' some 'uterine fibroid' 'uterine fibroid measurement' SubClassOf 'measurement' http://www.ebi.ac.uk/efo/EFO_0009419 CX3CL1 measurement 'CX3CL1 measurement' SubClassOf 'blood protein measurement' 'CX3CL1 measurement' SubClassOf 'blood protein measurement' http://www.orpha.net/ORDO/Orphanet_370019 Spondylometaphyseal dysplasia, Czarny-Ratajczak type 'Spondylometaphyseal dysplasia, Czarny-Ratajczak type' SubClassOf 'Spondylometaphyseal dysplasia' 'Spondylometaphyseal dysplasia, Czarny-Ratajczak type' SubClassOf 'Spondylometaphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_71202 Rare hemorrhagic disorder due to a constitutional platelet anomaly 'Rare hemorrhagic disorder due to a constitutional platelet anomaly' SubClassOf 'Rare genetic coagulation disorder' 'Rare hemorrhagic disorder due to a constitutional platelet anomaly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016629 'Rare hemorrhagic disorder due to a constitutional platelet anomaly' SubClassOf 'Rare genetic coagulation disorder' 'Rare hemorrhagic disorder due to a constitutional platelet anomaly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000009 http://www.ebi.ac.uk/efo/EFO_0009415 CCL19 measurement 'CCL19 measurement' SubClassOf 'blood protein measurement' 'CCL19 measurement' SubClassOf 'blood protein measurement' http://www.ebi.ac.uk/efo/EFO_0009416 CCL21 measurement 'CCL21 measurement' SubClassOf 'blood protein measurement' 'CCL21 measurement' SubClassOf 'blood protein measurement' http://www.ebi.ac.uk/efo/EFO_0009417 CCL23 measurement 'CCL23 measurement' SubClassOf 'blood protein measurement' 'CCL23 measurement' SubClassOf 'blood protein measurement' http://www.ebi.ac.uk/efo/EFO_0009418 CCL24 measurement 'CCL24 measurement' SubClassOf 'blood protein measurement' 'CCL24 measurement' SubClassOf 'blood protein measurement' http://www.orpha.net/ORDO/Orphanet_370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome 'Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome' SubClassOf 'Genetic syndrome with a cerebellar malformation as major feature' 'Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome' SubClassOf 'Oculomotor apraxia or related oculomotor disease' 'Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome' SubClassOf 'Genetic syndrome with a cerebellar malformation as major feature' 'Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome' SubClassOf 'Oculomotor apraxia or related oculomotor disease' 'Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 http://purl.obolibrary.org/obo/GO_0009279 cell outer membrane 'cell outer membrane' SubClassOf 'part_of' some 'cell envelope' 'cell outer membrane' EquivalentTo 'outer membrane' and ('part_of' some 'cell envelope') http://purl.obolibrary.org/obo/CHEBI_3165 bradykinin 'bradykinin' SubClassOf 'chemical entity' 'bradykinin' SubClassOf 'chemical entity' http://www.ebi.ac.uk/efo/EFO_0009440 age at last pregnancy measurement 'age at last pregnancy measurement' SubClassOf 'reproductive behaviour measurement' 'age at last pregnancy measurement' SubClassOf 'reproductive behaviour measurement' 'age at last pregnancy measurement' SubClassOf 'is_about' some 'pregnancy' 'age at last pregnancy measurement' SubClassOf 'is_about' some 'female reproductive system' http://www.ebi.ac.uk/efo/EFO_0009441 Waldenstrom macroglobulinemia 'Waldenstrom macroglobulinemia' SubClassOf 'B-cell non-Hodgkins lymphoma' 'Waldenstrom macroglobulinemia' SubClassOf 'B-cell non-Hodgkins lymphoma' http://www.orpha.net/ORDO/Orphanet_308023 Disease with punctate palmoplantar keratoderma as a major feature 'Disease with punctate palmoplantar keratoderma as a major feature' SubClassOf 'Punctate palmoplantar keratoderma' 'Disease with punctate palmoplantar keratoderma as a major feature' SubClassOf 'Punctate palmoplantar keratoderma' 'Disease with punctate palmoplantar keratoderma as a major feature' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Punctate palmoplantar keratoderma' 'Disease with punctate palmoplantar keratoderma as a major feature' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Punctate palmoplantar keratoderma') http://www.ebi.ac.uk/efo/EFO_0009443 BRCAX breast cancer 'BRCAX breast cancer' SubClassOf 'breast carcinoma' 'BRCAX breast cancer' SubClassOf 'breast carcinoma' 'BRCAX breast cancer' SubClassOf 'has_disease_location' some ('breast' or ('part_of' some 'breast')) http://www.orpha.net/ORDO/Orphanet_397968 Charcot-Marie-Tooth disease type 2R 'Charcot-Marie-Tooth disease type 2R' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019601 'Charcot-Marie-Tooth disease type 2R' SubClassOf 'Autosomal dominant Charcot-Marie-Tooth disease type 2' http://purl.obolibrary.org/obo/CLO_0015097 GM17138 'GM17138' SubClassOf 'has_quality' some 'female' 'GM17138' SubClassOf 'cultured cell' 'GM17138' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/CLO_0015098 GM17139 'GM17139' SubClassOf 'cultured cell' 'GM17139' SubClassOf 'has_quality' some 'female' 'GM17139' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0009448 pulmonary fibrosis 'pulmonary fibrosis' SubClassOf 'interstitial lung disease' 'pulmonary fibrosis' SubClassOf 'interstitial lung disease' http://www.ebi.ac.uk/efo/EFO_0009449 keratitis 'keratitis' SubClassOf 'corneal disease' 'keratitis' SubClassOf 'corneal disease' 'keratitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021166 http://www.orpha.net/ORDO/Orphanet_397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome 'Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome' SubClassOf 'Syndromic obesity' 'Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome' SubClassOf 'Syndromic obesity' http://purl.obolibrary.org/obo/CLO_0015090 GM17137 'GM17137' SubClassOf 'cultured cell' 'GM17137' SubClassOf 'has_quality' some 'female' 'GM17137' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/CLO_0015093 GM17134 'GM17134' SubClassOf 'has_quality' some 'female' 'GM17134' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17134' SubClassOf 'cultured cell' http://purl.obolibrary.org/obo/CLO_0015094 GM17135 'GM17135' SubClassOf 'cultured cell' 'GM17135' SubClassOf 'has_quality' some 'female' 'GM17135' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/UBERON_0001322 sciatic nerve 'sciatic nerve' SubClassOf 'animal component' 'sciatic nerve' SubClassOf 'part_of' some 'peripheral nervous system' 'sciatic nerve' SubClassOf 'nerve' http://purl.obolibrary.org/obo/UBERON_0001323 tibial nerve 'tibial nerve' SubClassOf 'animal component' 'tibial nerve' SubClassOf 'part_of' some 'leg' 'tibial nerve' SubClassOf http://purl.obolibrary.org/obo/UBERON_0003431 'tibial nerve' SubClassOf 'part_of' some 'nervous system' 'tibial nerve' DisjointWith http://purl.obolibrary.org/obo/UBERON_0001324 http://www.ebi.ac.uk/efo/EFO_0009450 conjunctivitis 'conjunctivitis' SubClassOf 'Conjunctival Disorder' 'conjunctivitis' SubClassOf 'Conjunctival Disorder' 'conjunctivitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021166 http://purl.obolibrary.org/obo/UBERON_0003982 mature ovarian follicle 'mature ovarian follicle' SubClassOf 'part_of' some 'female reproductive system' 'mature ovarian follicle' SubClassOf 'develops_from' some 'anal region' 'mature ovarian follicle' SubClassOf 'develops_from' some 'genitourinary system' 'mature ovarian follicle' SubClassOf 'develops_from' some 'gonad primordium' 'mature ovarian follicle' SubClassOf 'develops_from' some 'female reproductive system' http://www.orpha.net/ORDO/Orphanet_324999 JMP syndrome 'JMP syndrome' SubClassOf 'Proteasome disability syndrome' 'JMP syndrome' SubClassOf 'autosomal recessive disease' 'JMP syndrome' SubClassOf 'Proteasome disability syndrome' http://www.orpha.net/ORDO/Orphanet_357074 Autosomal recessive cutis laxa type 2, classic type 'Autosomal recessive cutis laxa type 2, classic type' SubClassOf 'Autosomal recessive cutis laxa type 2A' 'Autosomal recessive cutis laxa type 2, classic type' SubClassOf 'Autosomal recessive cutis laxa type 2A' http://www.ebi.ac.uk/efo/EFO_0009433 lower respiratory tract disease 'lower respiratory tract disease' SubClassOf 'respiratory system disease' 'lower respiratory tract disease' SubClassOf 'respiratory system disease' http://purl.obolibrary.org/obo/UBERON_0000007 pituitary gland 'pituitary gland' SubClassOf 'gland' 'pituitary gland' SubClassOf http://purl.obolibrary.org/obo/UBERON_0003296 'pituitary gland' SubClassOf 'part_of' some 'diencephalon' 'pituitary gland' SubClassOf 'develops_from' some 'ectoderm' 'pituitary gland' SubClassOf 'part_of' some 'endocrine system' 'pituitary gland' SubClassOf http://purl.obolibrary.org/obo/UBERON_0010133 http://www.orpha.net/ORDO/Orphanet_308031 Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature 'Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature' SubClassOf 'Disease with punctate palmoplantar keratoderma as a major feature' 'Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0000426 and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Punctate palmoplantar keratoderma') 'Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 'Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature' SubClassOf 'Disease with punctate palmoplantar keratoderma as a major feature' http://purl.obolibrary.org/obo/UBERON_0000006 islet of Langerhans 'islet of Langerhans' SubClassOf 'part_of' some 'endocrine pancreas' http://www.ebi.ac.uk/efo/EFO_0009435 arthritis disease activity score measurement 'arthritis disease activity score measurement' SubClassOf 'measurement' 'arthritis disease activity score measurement' SubClassOf 'measurement' 'arthritis disease activity score measurement' SubClassOf 'is_about' some 'rheumatoid arthritis' http://www.ebi.ac.uk/efo/EFO_0009436 offspring survival measurement 'offspring survival measurement' SubClassOf 'measurement' 'offspring survival measurement' SubClassOf 'measurement' http://www.ebi.ac.uk/efo/EFO_0009430 neuralgia 'neuralgia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021668 http://www.ebi.ac.uk/efo/EFO_0009431 intestinal disease 'intestinal disease' SubClassOf 'digestive system disease' 'intestinal disease' SubClassOf 'disease' and ('has_disease_location' some ('intestine' or ('part_of' some 'intestine'))) 'intestinal disease' SubClassOf 'digestive system disease' http://www.ebi.ac.uk/efo/EFO_0009437 offspring mortality measurement 'offspring mortality measurement' SubClassOf 'measurement' 'offspring mortality measurement' SubClassOf 'measurement' http://www.ebi.ac.uk/efo/EFO_0009438 number of pregnancies measurement 'number of pregnancies measurement' SubClassOf 'reproductive behaviour measurement' 'number of pregnancies measurement' SubClassOf 'is_about' some 'pregnancy' 'number of pregnancies measurement' SubClassOf 'reproductive behaviour measurement' 'number of pregnancies measurement' SubClassOf 'is_about' some 'female reproductive system' http://www.ebi.ac.uk/efo/EFO_0009439 multiple births measurement 'multiple births measurement' SubClassOf 'reproductive behaviour measurement' 'multiple births measurement' SubClassOf 'reproductive behaviour measurement' http://purl.obolibrary.org/obo/UBERON_0001332 prepuce of penis 'prepuce of penis' SubClassOf 'part_of' some 'penis' http://purl.obolibrary.org/obo/CHEBI_3182 bromocriptine methanesulfonate 'bromocriptine methanesulfonate' SubClassOf 'has_role' some 'drug role' http://purl.obolibrary.org/obo/UBERON_0000004 olfactory apparatus 'olfactory apparatus' EquivalentTo 'part_of' some 'olfactory apparatus' 'olfactory apparatus' SubClassOf 'part_of' some 'respiratory system' 'olfactory apparatus' SubClassOf 'part_of' some 'head' 'olfactory apparatus' SubClassOf 'develops_from' some 'olfactory placode' 'olfactory apparatus' SubClassOf 'part_of' some 'craniofacial tissue' http://purl.obolibrary.org/obo/UBERON_0000002 uterine cervix 'uterine cervix' SubClassOf 'part_of' some 'reproductive system' 'uterine cervix' SubClassOf 'part_of' some 'female reproductive system' 'uterine cervix' EquivalentTo 'part_of' some 'uterine cervix' http://purl.obolibrary.org/obo/UBERON_0002661 superior frontal gyrus 'superior frontal gyrus' SubClassOf 'part_of' some 'frontal cortex' http://www.ebi.ac.uk/efo/EFO_0009466 Löfgren’s syndrome 'Löfgren’s syndrome' SubClassOf 'Sarcoidosis' 'Löfgren’s syndrome' SubClassOf 'Sarcoidosis' http://www.orpha.net/ORDO/Orphanet_107 BOR syndrome 'BOR syndrome' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'BOR syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'BOR syndrome' SubClassOf 'Syndromic genetic deafness' 'BOR syndrome' SubClassOf 'Syndrome or malformation associated with head and neck malformations' 'BOR syndrome' SubClassOf 'Otomandibular dysplasia associated with monogenic syndromes' 'BOR syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 'BOR syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 'BOR syndrome' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'BOR syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'BOR syndrome' SubClassOf 'Syndromic genetic deafness' 'BOR syndrome' SubClassOf 'Syndrome or malformation associated with head and neck malformations' 'BOR syndrome' SubClassOf 'Otomandibular dysplasia associated with monogenic syndromes' http://www.ebi.ac.uk/efo/EFO_0009467 response to anti-vascular endothelial growth factor drug 'response to anti-vascular endothelial growth factor drug' SubClassOf 'response to drug' 'response to anti-vascular endothelial growth factor drug' SubClassOf 'response to drug' http://www.orpha.net/ORDO/Orphanet_105 Atresia of urethra 'Atresia of urethra' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015619 'Atresia of urethra' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018559 http://www.orpha.net/ORDO/Orphanet_104 Leber hereditary optic neuropathy 'Leber hereditary optic neuropathy' SubClassOf 'Mitochondrial disease with eye involvement' 'Leber hereditary optic neuropathy' SubClassOf 'Optic neuropathy' 'Leber hereditary optic neuropathy' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' 'Leber hereditary optic neuropathy' SubClassOf 'Mitochondrial disease with dilated cardiomyopathy' 'Leber hereditary optic neuropathy' SubClassOf 'Mitochondrial disease with hypertrophic cardiomyopathy' 'Leber hereditary optic neuropathy' SubClassOf 'Mitochondrial disease with eye involvement' 'Leber hereditary optic neuropathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043878 'Leber hereditary optic neuropathy' SubClassOf 'Optic neuropathy' 'Leber hereditary optic neuropathy' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' 'Leber hereditary optic neuropathy' SubClassOf 'Mitochondrial disease with dilated cardiomyopathy' 'Leber hereditary optic neuropathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004884 'Leber hereditary optic neuropathy' SubClassOf 'Mitochondrial disease with hypertrophic cardiomyopathy' 'Leber hereditary optic neuropathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 http://www.ebi.ac.uk/efo/EFO_0009464 corneal disease 'corneal disease' SubClassOf 'eye disease' 'corneal disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002051 'corneal disease' SubClassOf 'eye disease' 'corneal disease' SubClassOf 'disease' and ('has_disease_location' some ('cornea' or ('part_of' some 'cornea'))) http://www.orpha.net/ORDO/Orphanet_101 Dentatorubral pallidoluysian atrophy 'Dentatorubral pallidoluysian atrophy' SubClassOf 'Autosomal dominant cerebellar ataxia type 4' 'Dentatorubral pallidoluysian atrophy' SubClassOf 'Huntington disease-like syndrome' 'Dentatorubral pallidoluysian atrophy' SubClassOf 'Autosomal dominant cerebellar ataxia type 4' 'Dentatorubral pallidoluysian atrophy' SubClassOf 'Huntington disease-like syndrome' http://www.orpha.net/ORDO/Orphanet_100 Ataxia-telangiectasia 'Ataxia-telangiectasia' SubClassOf 'Non-acquired premature ovarian failure' 'Ataxia-telangiectasia' SubClassOf 'DNA repair defect other than combined T-cell and B-cell immunodeficiencies' 'Ataxia-telangiectasia' SubClassOf 'Conjunctival telangiectasia' 'Ataxia-telangiectasia' SubClassOf 'Autosomal recessive cerebellar ataxia due to a DNA repair defect' 'Ataxia-telangiectasia' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Ataxia-telangiectasia' SubClassOf 'Oculomotor apraxia or related oculomotor disease' 'Ataxia-telangiectasia' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Ataxia-telangiectasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 'Ataxia-telangiectasia' SubClassOf 'Combined T and B cell immunodeficiency' 'Ataxia-telangiectasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016756 'Ataxia-telangiectasia' SubClassOf 'Non-acquired premature ovarian failure' 'Ataxia-telangiectasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019293 'Ataxia-telangiectasia' SubClassOf 'DNA repair defect other than combined T-cell and B-cell immunodeficiencies' 'Ataxia-telangiectasia' SubClassOf 'Conjunctival telangiectasia' 'Ataxia-telangiectasia' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Ataxia-telangiectasia' SubClassOf 'Autosomal recessive cerebellar ataxia due to a DNA repair defect' 'Ataxia-telangiectasia' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Ataxia-telangiectasia' SubClassOf 'Oculomotor apraxia or related oculomotor disease' 'Ataxia-telangiectasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0042983 http://purl.obolibrary.org/obo/UBERON_6005533 ventral epidermis primordium 'ventral epidermis primordium' SubClassOf 'embryonic structure' 'ventral epidermis primordium' SubClassOf 'primordium' http://purl.obolibrary.org/obo/UBERON_6005538 clypeo-labral primordium 'clypeo-labral primordium' SubClassOf 'embryonic structure' 'clypeo-labral primordium' SubClassOf 'primordium' http://purl.obolibrary.org/obo/CLO_0031953 GM14679 'GM14679' SubClassOf 'has_quality' some 'female' 'GM14679' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM14679' SubClassOf 'cultured cell' http://www.orpha.net/ORDO/Orphanet_95232 Lissencephaly due to LIS1 mutation 'Lissencephaly due to LIS1 mutation' SubClassOf 'Classic lissencephaly' 'Lissencephaly due to LIS1 mutation' SubClassOf 'Classic lissencephaly' http://purl.obolibrary.org/obo/HP_0002465 Poor speech 'Poor speech' SubClassOf 'abnormality of the nervous system' 'Poor speech' SubClassOf 'abnormality of the nervous system' http://purl.obolibrary.org/obo/HP_0002460 Distal Muscle weakness 'Distal Muscle weakness' SubClassOf 'Muscle weakness' 'Distal Muscle weakness' SubClassOf 'Muscle weakness' http://www.ebi.ac.uk/efo/EFO_0009455 lacrimal apparatus disease 'lacrimal apparatus disease' SubClassOf 'eye adnexa disease' 'lacrimal apparatus disease' SubClassOf 'eye disease' http://www.orpha.net/ORDO/Orphanet_118 Beta-mannosidosis 'Beta-mannosidosis' SubClassOf 'Oligosaccharidosis' 'Beta-mannosidosis' SubClassOf 'Lysosomal disease with hypertrophic cardiomyopathy' 'Beta-mannosidosis' SubClassOf 'Lysosomal storage disease with skeletal involvement' 'Beta-mannosidosis' SubClassOf 'Rare hereditary metabolic disease with peripheral neuropathy' 'Beta-mannosidosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Beta-mannosidosis' SubClassOf 'Oligosaccharidosis' 'Beta-mannosidosis' SubClassOf 'Lysosomal disease with hypertrophic cardiomyopathy' 'Beta-mannosidosis' SubClassOf 'Lysosomal storage disease with skeletal involvement' 'Beta-mannosidosis' SubClassOf 'Rare hereditary metabolic disease with peripheral neuropathy' http://www.ebi.ac.uk/efo/EFO_0009456 exfoliative dermatitis 'exfoliative dermatitis' SubClassOf 'inflammatory skin disease' 'exfoliative dermatitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002406 'exfoliative dermatitis' SubClassOf 'inflammatory skin disease' http://www.orpha.net/ORDO/Orphanet_116 Beckwith-Wiedemann syndrome 'Beckwith-Wiedemann syndrome' SubClassOf 'Syndrome or malformation associated with head and neck malformations' 'Beckwith-Wiedemann syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Beckwith-Wiedemann syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Beckwith-Wiedemann syndrome' SubClassOf 'Overgrowth syndrome' 'Beckwith-Wiedemann syndrome' SubClassOf 'Macroglossia' 'Beckwith-Wiedemann syndrome' SubClassOf 'Syndrome associated with hypertrophic cardiomyopathy' 'Beckwith-Wiedemann syndrome' SubClassOf 'Syndrome or malformation associated with head and neck malformations' 'Beckwith-Wiedemann syndrome' SubClassOf 'Inherited renal cancer-predisposing syndrome' 'Beckwith-Wiedemann syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Beckwith-Wiedemann syndrome' SubClassOf 'head and neck neoplasia' 'Beckwith-Wiedemann syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Beckwith-Wiedemann syndrome' SubClassOf 'Overgrowth syndrome' 'Beckwith-Wiedemann syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 'Beckwith-Wiedemann syndrome' SubClassOf 'Macroglossia' 'Beckwith-Wiedemann syndrome' SubClassOf 'Syndrome associated with hypertrophic cardiomyopathy' http://www.ebi.ac.uk/efo/EFO_0009458 alcohol use disorder measurement 'alcohol use disorder measurement' SubClassOf 'mental or behavioural disorder biomarker' 'alcohol use disorder measurement' SubClassOf 'is_about' some 'alcohol dependence' 'alcohol use disorder measurement' SubClassOf 'mental or behavioural disorder biomarker' http://www.orpha.net/ORDO/Orphanet_115 Congenital contractural arachnodactyly 'Congenital contractural arachnodactyly' SubClassOf 'Marfan and Marfan-related disorder' 'Congenital contractural arachnodactyly' SubClassOf 'Distal arthrogryposis' 'Congenital contractural arachnodactyly' SubClassOf 'Marfan and Marfan-related disorder' 'Congenital contractural arachnodactyly' SubClassOf 'Distal arthrogryposis' 'Congenital contractural arachnodactyly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Congenital contractural arachnodactyly' SubClassOf 'arthrogryposis' http://www.ebi.ac.uk/efo/EFO_0009451 hypoparathyroidism 'hypoparathyroidism' SubClassOf 'parathyroid disease' 'hypoparathyroidism' SubClassOf 'parathyroid disease' http://www.orpha.net/ORDO/Orphanet_114 Auriculoosteodysplasia 'Auriculoosteodysplasia' SubClassOf 'Primary bone dysplasia with multiple joint dislocations' 'Auriculoosteodysplasia' SubClassOf 'Primary bone dysplasia with multiple joint dislocations' http://www.ebi.ac.uk/efo/EFO_0009452 hyperaldosteronism 'hyperaldosteronism' SubClassOf 'adrenal gland hyperfunction' 'hyperaldosteronism' SubClassOf 'adrenal gland hyperfunction' http://www.orpha.net/ORDO/Orphanet_113 Bazex-Dupré-Christol syndrome 'Bazex-Dupré-Christol syndrome' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Bazex-Dupré-Christol syndrome' SubClassOf 'Congenital absence of the eyebrow/eyelashes' 'Bazex-Dupré-Christol syndrome' SubClassOf 'Malignant tumor of palpebral epidermis' 'Bazex-Dupré-Christol syndrome' SubClassOf 'Genetic skin tumor' 'Bazex-Dupré-Christol syndrome' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Bazex-Dupré-Christol syndrome' SubClassOf 'Congenital absence of the eyebrow/eyelashes' 'Bazex-Dupré-Christol syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Bazex-Dupré-Christol syndrome' SubClassOf 'Malignant tumor of palpebral epidermis' 'Bazex-Dupré-Christol syndrome' SubClassOf 'Genetic eye tumor' 'Bazex-Dupré-Christol syndrome' SubClassOf 'Genetic skin tumor' http://www.ebi.ac.uk/efo/EFO_0009453 hemiplegia 'hemiplegia' SubClassOf 'central nervous system disease' 'hemiplegia' SubClassOf 'central nervous system disease' http://www.orpha.net/ORDO/Orphanet_112 Bartter syndrome 'Bartter syndrome' SubClassOf 'Genetic renal tubular disease' 'Bartter syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Bartter syndrome' SubClassOf 'Genetic renal tubular disease' 'Bartter syndrome' SubClassOf 'renal tubular transport disease' http://www.ebi.ac.uk/efo/EFO_0009454 gastric ulcer 'gastric ulcer' SubClassOf 'Peptic ulcer' 'gastric ulcer' SubClassOf 'digestive system disease' 'gastric ulcer' SubClassOf 'Peptic ulcer' 'gastric ulcer' SubClassOf 'stomach disease' 'gastric ulcer' SubClassOf 'has_disease_location' some ('stomach' or ('part_of' some 'stomach')) 'gastric ulcer' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004247 http://www.orpha.net/ORDO/Orphanet_111 Barth syndrome 'Barth syndrome' SubClassOf 'Constitutional neutropenia with extra-haematopoietic manifestations' 'Barth syndrome' SubClassOf 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement' 'Barth syndrome' SubClassOf '3-methylglutaconic aciduria' 'Barth syndrome' SubClassOf 'Mitochondrial myopathy' 'Barth syndrome' SubClassOf 'Mitochondrial disease with dilated cardiomyopathy' 'Barth syndrome' SubClassOf 'Rare syndromic dyslipidemia' 'Barth syndrome' SubClassOf 'Constitutional neutropenia with extra-haematopoietic manifestations' 'Barth syndrome' SubClassOf 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement' 'Barth syndrome' SubClassOf '3-methylglutaconic aciduria' 'Barth syndrome' SubClassOf 'Mitochondrial myopathy' 'Barth syndrome' SubClassOf 'Mitochondrial disease with dilated cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_110 Bardet-Biedl syndrome 'Bardet-Biedl syndrome' SubClassOf 'Rare disorder with hypogonadotropic hypogonadism' 'Bardet-Biedl syndrome' SubClassOf 'Syndromic obesity' 'Bardet-Biedl syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Bardet-Biedl syndrome' SubClassOf 'Unclassified primitive or secondary maculopathy' 'Bardet-Biedl syndrome' SubClassOf 'Syndromic retinitis pigmentosa' 'Bardet-Biedl syndrome' SubClassOf 'Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism' 'Bardet-Biedl syndrome' SubClassOf 'autosomal recessive disease' 'Bardet-Biedl syndrome' SubClassOf 'Rare disorder with hypogonadotropic hypogonadism' 'Bardet-Biedl syndrome' SubClassOf 'has_disease_location' some 'ciliary ganglion' 'Bardet-Biedl syndrome' SubClassOf 'Syndromic obesity' 'Bardet-Biedl syndrome' SubClassOf 'Familial cystic renal disease' 'Bardet-Biedl syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021189 'Bardet-Biedl syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007 'Bardet-Biedl syndrome' SubClassOf 'has_disease_location' some 'cilium' 'Bardet-Biedl syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Bardet-Biedl syndrome' SubClassOf 'Syndromic retinitis pigmentosa' 'Bardet-Biedl syndrome' SubClassOf 'Unclassified primitive or secondary maculopathy' 'Bardet-Biedl syndrome' SubClassOf 'Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism' http://www.ebi.ac.uk/efo/EFO_0009459 ACPA-positive rheumatoid arthritis 'ACPA-positive rheumatoid arthritis' SubClassOf 'rheumatoid arthritis' 'ACPA-positive rheumatoid arthritis' SubClassOf 'rheumatoid arthritis' http://purl.obolibrary.org/obo/UBERON_6005526 dorsal epidermis primordium 'dorsal epidermis primordium' SubClassOf 'primordium' 'dorsal epidermis primordium' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/HP_0002474 Expressive language delay 'Expressive language delay' SubClassOf 'abnormality of the nervous system' 'Expressive language delay' SubClassOf 'abnormality of the nervous system' http://www.ebi.ac.uk/efo/EFO_0009460 ACPA-negative rheumatoid arthritis 'ACPA-negative rheumatoid arthritis' SubClassOf 'rheumatoid arthritis' 'ACPA-negative rheumatoid arthritis' SubClassOf 'rheumatoid arthritis' http://www.orpha.net/ORDO/Orphanet_109 Bannayan-Riley-Ruvalcaba syndrome 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf 'Overgrowth syndrome' 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf 'PTEN hamartoma tumor syndrome' 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf 'Genetic intestinal polyposis' 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf 'brain neoplasm' 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf 'Overgrowth syndrome' 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015185 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018729 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf 'PTEN hamartoma tumor syndrome' 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043218 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf 'Genetic intestinal polyposis' 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016235 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 http://www.ebi.ac.uk/efo/EFO_0009488 spinal cord disease 'spinal cord disease' SubClassOf 'central nervous system disease' 'spinal cord disease' SubClassOf 'central nervous system disease' http://www.ebi.ac.uk/efo/EFO_0009489 cranial nerve palsy 'cranial nerve palsy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003569 http://www.orpha.net/ORDO/Orphanet_127 Borjeson-Forssman-Lehmann syndrome 'Borjeson-Forssman-Lehmann syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Borjeson-Forssman-Lehmann syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Borjeson-Forssman-Lehmann syndrome' SubClassOf 'Syndromic obesity' 'Borjeson-Forssman-Lehmann syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Borjeson-Forssman-Lehmann syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015656 'Borjeson-Forssman-Lehmann syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Borjeson-Forssman-Lehmann syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020169 'Borjeson-Forssman-Lehmann syndrome' SubClassOf 'Syndromic obesity' 'Borjeson-Forssman-Lehmann syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Borjeson-Forssman-Lehmann syndrome' SubClassOf 'Monogenic disease with epilepsy' http://www.orpha.net/ORDO/Orphanet_126 Blepharophimosis - epicanthus inversus - ptosis 'Blepharophimosis - epicanthus inversus - ptosis' SubClassOf 'Rare female infertility due to an anomaly of ovarian function of genetic origin' 'Blepharophimosis - epicanthus inversus - ptosis' SubClassOf 'Secondary ectropion' 'Blepharophimosis - epicanthus inversus - ptosis' SubClassOf 'Non-acquired premature ovarian failure' 'Blepharophimosis - epicanthus inversus - ptosis' SubClassOf 'Telecanthus' 'Blepharophimosis - epicanthus inversus - ptosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 'Blepharophimosis - epicanthus inversus - ptosis' SubClassOf 'Rare female infertility due to an anomaly of ovarian function of genetic origin' 'Blepharophimosis - epicanthus inversus - ptosis' SubClassOf 'Secondary ectropion' 'Blepharophimosis - epicanthus inversus - ptosis' SubClassOf 'Non-acquired premature ovarian failure' 'Blepharophimosis - epicanthus inversus - ptosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020169 'Blepharophimosis - epicanthus inversus - ptosis' SubClassOf 'Telecanthus' http://www.ebi.ac.uk/efo/EFO_0009484 uterine polyp 'uterine polyp' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021353 'uterine polyp' SubClassOf 'polyp' http://www.orpha.net/ORDO/Orphanet_125 Bloom syndrome 'Bloom syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Bloom syndrome' SubClassOf 'Genetic photodermatosis' 'Bloom syndrome' SubClassOf 'Genetic malformation syndrome with short stature' 'Bloom syndrome' SubClassOf 'DNA repair defect other than combined T-cell and B-cell immunodeficiencies' 'Bloom syndrome' SubClassOf 'Rare genetic neurological disorder' 'Bloom syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Bloom syndrome' SubClassOf 'Genetic photodermatosis' 'Bloom syndrome' SubClassOf 'Inborn errors of metabolism' 'Bloom syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0009332 'Bloom syndrome' SubClassOf 'Developmental anomaly of metabolic origin' 'Bloom syndrome' SubClassOf 'Genetic malformation syndrome with short stature' 'Bloom syndrome' SubClassOf 'Genetic tumor of hematopoietic and lymphoid tissues' 'Bloom syndrome' SubClassOf 'head and neck neoplasia' 'Bloom syndrome' SubClassOf 'autosomal recessive disease' 'Bloom syndrome' SubClassOf 'Genetic skin tumor' 'Bloom syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020629 'Bloom syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019304 http://www.orpha.net/ORDO/Orphanet_124 Blackfan-Diamond anemia 'Blackfan-Diamond anemia' SubClassOf 'Orofacial clefting syndrome' 'Blackfan-Diamond anemia' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Blackfan-Diamond anemia' SubClassOf 'Disorder of purine metabolism' 'Blackfan-Diamond anemia' SubClassOf 'Orofacial clefting syndrome' 'Blackfan-Diamond anemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001705 'Blackfan-Diamond anemia' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Blackfan-Diamond anemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 'Blackfan-Diamond anemia' SubClassOf 'Disorder of purine metabolism' 'Blackfan-Diamond anemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001713 'Blackfan-Diamond anemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000577 'Blackfan-Diamond anemia' SubClassOf 'Developmental anomaly of metabolic origin' http://www.orpha.net/ORDO/Orphanet_123 Björnstad syndrome 'Björnstad syndrome' SubClassOf 'Isolated hair shaft abnormality' 'Björnstad syndrome' SubClassOf 'Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes' 'Björnstad syndrome' SubClassOf 'Isolated hair shaft abnormality' 'Björnstad syndrome' SubClassOf 'autosomal recessive disease' 'Björnstad syndrome' SubClassOf 'Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes' http://www.ebi.ac.uk/efo/EFO_0009487 nerve compression syndrome 'nerve compression syndrome' SubClassOf 'peripheral neuropathy' 'nerve compression syndrome' SubClassOf 'peripheral neuropathy' http://www.orpha.net/ORDO/Orphanet_122 Birt-Hogg-Dubé syndrome 'Birt-Hogg-Dubé syndrome' SubClassOf 'Inherited renal cancer-predisposing syndrome' 'Birt-Hogg-Dubé syndrome' SubClassOf 'Genetic skin tumor' 'Birt-Hogg-Dubé syndrome' SubClassOf 'Genetic renal tumor' 'Birt-Hogg-Dubé syndrome' SubClassOf 'Inherited renal cancer-predisposing syndrome' 'Birt-Hogg-Dubé syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 'Birt-Hogg-Dubé syndrome' SubClassOf 'Genetic skin tumor' http://www.orpha.net/ORDO/Orphanet_261290 Trisomy 17p 'Trisomy 17p' SubClassOf 'Partial duplication of the short arm of chromosome 17' 'Trisomy 17p' SubClassOf 'Partial duplication of the short arm of chromosome 17' http://purl.obolibrary.org/obo/CHEBI_3139 bleomycin A2 'bleomycin A2' SubClassOf 'has_role' some 'antimicrobial agent' http://www.ebi.ac.uk/efo/EFO_0009491 adrenocortical insufficiency 'adrenocortical insufficiency' SubClassOf 'adrenal gland disease' 'adrenocortical insufficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002816 http://www.ebi.ac.uk/efo/EFO_0009494 C1 100080002 'C1 100080002' SubClassOf 'has_quality' some 'male' http://www.ebi.ac.uk/efo/EFO_0009490 nervous system injury 'nervous system injury' SubClassOf 'injury' 'nervous system injury' SubClassOf 'injury' 'nervous system injury' SubClassOf 'nervous system disease' http://www.orpha.net/ORDO/Orphanet_119 Autosomal recessive limb-girdle muscular dystrophy type 2E 'Autosomal recessive limb-girdle muscular dystrophy type 2E' SubClassOf 'Qualitative or quantitative defects of beta-sarcoglycan' 'Autosomal recessive limb-girdle muscular dystrophy type 2E' SubClassOf 'Neuromuscular disease with dilated cardiomyopathy' 'Autosomal recessive limb-girdle muscular dystrophy type 2E' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' 'Autosomal recessive limb-girdle muscular dystrophy type 2E' SubClassOf 'Qualitative or quantitative defects of beta-sarcoglycan' 'Autosomal recessive limb-girdle muscular dystrophy type 2E' SubClassOf 'Neuromuscular disease with dilated cardiomyopathy' 'Autosomal recessive limb-girdle muscular dystrophy type 2E' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' http://www.orpha.net/ORDO/Orphanet_261295 20p12.3 microdeletion syndrome '20p12.3 microdeletion syndrome' SubClassOf 'Partial monosomy of the short arm of chromosome 20' '20p12.3 microdeletion syndrome' SubClassOf 'Partial monosomy of the short arm of chromosome 20' http://www.ebi.ac.uk/efo/EFO_0009477 vertebral joint disease 'vertebral joint disease' SubClassOf 'joint disease' 'vertebral joint disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000812 'vertebral joint disease' SubClassOf 'joint disease' http://www.ebi.ac.uk/efo/EFO_0009478 vocal cord polyp 'vocal cord polyp' SubClassOf 'polyp' 'vocal cord polyp' SubClassOf 'polyp' 'vocal cord polyp' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002353 http://www.orpha.net/ORDO/Orphanet_139 CHILD syndrome 'CHILD syndrome' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'CHILD syndrome' SubClassOf 'Chondrodysplasia punctata' 'CHILD syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'CHILD syndrome' SubClassOf 'Sterol biosynthesis disorder' 'CHILD syndrome' SubClassOf 'X-linked ichthyosis syndrome' 'CHILD syndrome' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'CHILD syndrome' SubClassOf 'endocrine neoplasm' 'CHILD syndrome' SubClassOf 'melanocytic nevus' 'CHILD syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021454 'CHILD syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000631 'CHILD syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'CHILD syndrome' SubClassOf 'X-linked dominant chondrodysplasia punctata' 'CHILD syndrome' SubClassOf 'X-linked ichthyosis syndrome' 'CHILD syndrome' SubClassOf 'Genetic skin tumor' 'CHILD syndrome' SubClassOf 'Genetic eye tumor' http://www.orpha.net/ORDO/Orphanet_138 CHARGE syndrome 'CHARGE syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'CHARGE syndrome' SubClassOf 'Syndromic urogenital tract malformation' 'CHARGE syndrome' SubClassOf 'Rare syndrome with cardiac malformations' 'CHARGE syndrome' SubClassOf 'Rare disorder with hypogonadotropic hypogonadism' 'CHARGE syndrome' SubClassOf 'Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism' 'CHARGE syndrome' SubClassOf 'Syndromic genetic deafness' 'CHARGE syndrome' SubClassOf 'Syndrome or malformation associated with head and neck malformations' 'CHARGE syndrome' SubClassOf 'Lens shape anomaly' 'CHARGE syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'CHARGE syndrome' SubClassOf 'Syndromic urogenital tract malformation' 'CHARGE syndrome' SubClassOf 'Rare disorder with hypogonadotropic hypogonadism' 'CHARGE syndrome' SubClassOf 'Immunodeficiency due to absence of thymus' 'CHARGE syndrome' SubClassOf 'Syndrome or malformation associated with head and neck malformations' 'CHARGE syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'CHARGE syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'CHARGE syndrome' SubClassOf 'Rare syndrome with cardiac malformations' 'CHARGE syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007 'CHARGE syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 'CHARGE syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021635 'CHARGE syndrome' SubClassOf 'Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism' 'CHARGE syndrome' SubClassOf 'Syndromic genetic deafness' 'CHARGE syndrome' SubClassOf 'Lens shape anomaly' http://www.orpha.net/ORDO/Orphanet_137 Congenital disorder of glycosylation 'Congenital disorder of glycosylation' SubClassOf 'Inborn errors of metabolism' 'Congenital disorder of glycosylation' EquivalentTo 'realized_in' some ('disease course' and ('has part' some 'glycosylation')) 'Congenital disorder of glycosylation' SubClassOf 'realized_in' some ('disease course' and ('has part' some 'glycosylation')) 'Congenital disorder of glycosylation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024322 'Congenital disorder of glycosylation' SubClassOf 'Disorder of carbohydrate metabolism' 'Congenital disorder of glycosylation' EquivalentTo 'participates_in' some 'glycosylation' http://www.orpha.net/ORDO/Orphanet_136 CADASIL 'CADASIL' SubClassOf 'Genetic central nervous system and retinal vascular disease' 'CADASIL' SubClassOf 'Nervous system anomaly with eye involvement' 'CADASIL' SubClassOf 'Genetic cerebrovascular dementia' 'CADASIL' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'CADASIL' SubClassOf 'Nervous system anomaly with eye involvement' 'CADASIL' SubClassOf 'cerebral small vessel disease' 'CADASIL' SubClassOf 'Genetic cerebrovascular dementia' 'CADASIL' SubClassOf 'Genetic dementia' http://www.ebi.ac.uk/efo/EFO_0008143 obsolete_granulocyte-colony stimulating factor measurement 'obsolete_granulocyte-colony stimulating factor measurement' SubClassOf 'obsolete class' 'obsolete_granulocyte-colony stimulating factor measurement' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_135 CACH syndrome 'CACH syndrome' SubClassOf 'Leukodystrophy' 'CACH syndrome' SubClassOf 'Leukodystrophy' http://www.orpha.net/ORDO/Orphanet_132 Butyrylcholinesterase deficiency 'Butyrylcholinesterase deficiency' SubClassOf 'Metabolic disease involving other neurotransmitter deficiency' 'Butyrylcholinesterase deficiency' SubClassOf 'Metabolic disease involving other neurotransmitter deficiency' http://www.orpha.net/ORDO/Orphanet_130 Brugada syndrome 'Brugada syndrome' SubClassOf 'Genetic cardiac rhythm disease' 'Brugada syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Brugada syndrome' SubClassOf 'Genetic cardiac rhythm disease' http://www.ebi.ac.uk/efo/EFO_0009480 coping behaviour measurement 'coping behaviour measurement' SubClassOf 'mental or behavioural disorder biomarker' 'coping behaviour measurement' SubClassOf 'mental or behavioural disorder biomarker' http://www.ebi.ac.uk/efo/EFO_0009481 paranasal sinus disease 'paranasal sinus disease' SubClassOf 'head and neck disorder' 'paranasal sinus disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024654 'paranasal sinus disease' SubClassOf 'respiratory system disease' 'paranasal sinus disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002436 http://www.ebi.ac.uk/efo/EFO_0009482 drug allergy 'drug allergy' SubClassOf 'allergy' 'drug allergy' SubClassOf 'allergy' http://www.ebi.ac.uk/efo/EFO_0009483 breast disease 'breast disease' SubClassOf 'disease' 'breast disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000651 http://www.orpha.net/ORDO/Orphanet_1067 Aniridia - ptosis - intellectual disability - familial obesity 'Aniridia - ptosis - intellectual disability - familial obesity' SubClassOf 'Syndromic aniridia' 'Aniridia - ptosis - intellectual disability - familial obesity' SubClassOf 'Syndromic developmental defect of the eye' 'Aniridia - ptosis - intellectual disability - familial obesity' SubClassOf 'Syndromic aniridia' 'Aniridia - ptosis - intellectual disability - familial obesity' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 http://www.orpha.net/ORDO/Orphanet_1064 Aniridia - renal agenesis - psychomotor retardation 'Aniridia - renal agenesis - psychomotor retardation' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Aniridia - renal agenesis - psychomotor retardation' SubClassOf 'Syndromic renal or urinary tract malformation' 'Aniridia - renal agenesis - psychomotor retardation' SubClassOf 'Syndromic aniridia' 'Aniridia - renal agenesis - psychomotor retardation' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Aniridia - renal agenesis - psychomotor retardation' SubClassOf 'Syndromic aniridia' 'Aniridia - renal agenesis - psychomotor retardation' SubClassOf 'Syndromic renal or urinary tract malformation' 'Aniridia - renal agenesis - psychomotor retardation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 http://www.orpha.net/ORDO/Orphanet_2396 Encephalocraniocutaneous lipomatosis 'Encephalocraniocutaneous lipomatosis' SubClassOf 'Genetic skin tumor' 'Encephalocraniocutaneous lipomatosis' SubClassOf 'Genetic skin tumor' 'Encephalocraniocutaneous lipomatosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021440 'Encephalocraniocutaneous lipomatosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 'Encephalocraniocutaneous lipomatosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019296 'Encephalocraniocutaneous lipomatosis' SubClassOf 'Genetic soft tissue tumor' 'Encephalocraniocutaneous lipomatosis' SubClassOf 'lipomatosis' http://www.orpha.net/ORDO/Orphanet_1065 Aniridia - cerebellar ataxia - intellectual disability 'Aniridia - cerebellar ataxia - intellectual disability' SubClassOf 'Syndromic aniridia' 'Aniridia - cerebellar ataxia - intellectual disability' SubClassOf 'Syndromic developmental defect of the eye' 'Aniridia - cerebellar ataxia - intellectual disability' SubClassOf 'Rare disease with glaucoma as a major feature' 'Aniridia - cerebellar ataxia - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Aniridia - cerebellar ataxia - intellectual disability' SubClassOf 'Syndromic aniridia' 'Aniridia - cerebellar ataxia - intellectual disability' SubClassOf 'Rare disease with glaucoma as a major feature' http://www.orpha.net/ORDO/Orphanet_148 Multiple carboxylase deficiency 'Multiple carboxylase deficiency' SubClassOf 'Metabolic disease with skin involvement' 'Multiple carboxylase deficiency' SubClassOf 'Classic organic aciduria' 'Multiple carboxylase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020698 'Multiple carboxylase deficiency' SubClassOf 'Classic organic aciduria' 'Multiple carboxylase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 'Multiple carboxylase deficiency' SubClassOf 'Disorder of carbohydrate metabolism' 'Multiple carboxylase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019252 http://www.orpha.net/ORDO/Orphanet_1062 Hereditary neurocutaneous angioma 'Hereditary neurocutaneous angioma' SubClassOf 'Genetic neurovascular malformation' 'Hereditary neurocutaneous angioma' SubClassOf 'Cerebral diseases of vascular origin with epilepsy' 'Hereditary neurocutaneous angioma' SubClassOf 'Malformation syndrome with hamartosis' 'Hereditary neurocutaneous angioma' SubClassOf 'Genetic central nervous system and retinal vascular disease' 'Hereditary neurocutaneous angioma' SubClassOf 'brain neoplasm' 'Hereditary neurocutaneous angioma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Hereditary neurocutaneous angioma' SubClassOf 'Genetic neurovascular malformation' 'Hereditary neurocutaneous angioma' SubClassOf 'Malformation syndrome with hamartosis' 'Hereditary neurocutaneous angioma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018729 'Hereditary neurocutaneous angioma' SubClassOf 'Cerebral diseases of vascular origin with epilepsy' http://www.orpha.net/ORDO/Orphanet_2394 Pyruvate dehydrogenase E3 deficiency 'Pyruvate dehydrogenase E3 deficiency' SubClassOf 'Pyruvate dehydrogenase deficiency' 'Pyruvate dehydrogenase E3 deficiency' SubClassOf 'Mitochondrial myopathy' 'Pyruvate dehydrogenase E3 deficiency' SubClassOf 'Lipoic acid biosynthesis defect' 'Pyruvate dehydrogenase E3 deficiency' SubClassOf 'Pyruvate dehydrogenase deficiency' 'Pyruvate dehydrogenase E3 deficiency' SubClassOf 'Mitochondrial myopathy' 'Pyruvate dehydrogenase E3 deficiency' SubClassOf 'Lipoic acid biosynthesis defect' 'Pyruvate dehydrogenase E3 deficiency' SubClassOf 'Rare syndromic dyslipidemia' 'Pyruvate dehydrogenase E3 deficiency' SubClassOf 'Maple syrup urine disease' http://www.orpha.net/ORDO/Orphanet_1063 Tufted angioma 'Tufted angioma' SubClassOf 'Genetic vascular anomaly' 'Tufted angioma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018729 'Tufted angioma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003110 'Tufted angioma' SubClassOf 'Genetic skin tumor' http://www.orpha.net/ORDO/Orphanet_145 Hereditary breast and ovarian cancer syndrome 'Hereditary breast and ovarian cancer syndrome' SubClassOf 'breast carcinoma' 'Hereditary breast and ovarian cancer syndrome' SubClassOf 'Familial ovarian cancer' 'Hereditary breast and ovarian cancer syndrome' SubClassOf 'has_disease_location' some 'breast' 'Hereditary breast and ovarian cancer syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004033 'Hereditary breast and ovarian cancer syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 'Hereditary breast and ovarian cancer syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020573 'Hereditary breast and ovarian cancer syndrome' SubClassOf 'disease has feature' some 'ovarian carcinoma' 'Hereditary breast and ovarian cancer syndrome' SubClassOf 'has_disease_location' some 'female gonad' 'Hereditary breast and ovarian cancer syndrome' SubClassOf 'Inherited cancer-predisposing syndrome' 'Hereditary breast and ovarian cancer syndrome' SubClassOf 'Hereditary breast cancer' 'Hereditary breast and ovarian cancer syndrome' SubClassOf 'Familial ovarian cancer' 'Hereditary breast and ovarian cancer syndrome' SubClassOf 'disease has feature' some http://purl.obolibrary.org/obo/MONDO_0004379 http://www.orpha.net/ORDO/Orphanet_144 Lynch syndrome 'Lynch syndrome' SubClassOf 'Genetic digestive tract tumor' 'Lynch syndrome' SubClassOf 'Inherited cancer-predisposing syndrome' 'Lynch syndrome' SubClassOf 'has_disease_location' some 'colon' 'Lynch syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018630 'Lynch syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 http://www.orpha.net/ORDO/Orphanet_141 Canavan disease 'Canavan disease' SubClassOf 'Leukodystrophy' 'Canavan disease' SubClassOf 'Aminoacylase deficiency' 'Canavan disease' SubClassOf 'Genetic neurodegenerative disease' 'Canavan disease' SubClassOf 'Neurometabolic disease' 'Canavan disease' SubClassOf 'Leukodystrophy' 'Canavan disease' SubClassOf 'Aminoacylase deficiency' 'Canavan disease' SubClassOf 'Genetic neurodegenerative disease' 'Canavan disease' SubClassOf 'Neurometabolic disease' 'Canavan disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016399 http://purl.obolibrary.org/obo/CLO_0016362 ND01737 'ND01737' SubClassOf 'has_quality' some 'female' 'ND01737' SubClassOf 'cultured cell' 'ND01737' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'ND01737' SubClassOf 'bearer_of' some 'Parkinson's disease' http://www.orpha.net/ORDO/Orphanet_140 Campomelic dysplasia 'Campomelic dysplasia' SubClassOf 'Syndrome with disorder of sex development of gynecological interest' 'Campomelic dysplasia' SubClassOf 'Bent bone dysplasia' 'Campomelic dysplasia' SubClassOf 'Syndrome with 46,XY disorder of sex development' 'Campomelic dysplasia' SubClassOf 'Syndrome with disorder of sex development of gynecological interest' 'Campomelic dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 'Campomelic dysplasia' SubClassOf 'Bent bone dysplasia' 'Campomelic dysplasia' SubClassOf 'Syndrome with 46,XY disorder of sex development' 'Campomelic dysplasia' SubClassOf 'osteochondrodysplasia' 'Campomelic dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007 http://www.orpha.net/ORDO/Orphanet_1068 Aniridia-intellectual disability syndrome 'Aniridia-intellectual disability syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Aniridia-intellectual disability syndrome' SubClassOf 'Syndromic aniridia' 'Aniridia-intellectual disability syndrome' SubClassOf 'Syndromic aniridia' 'Aniridia-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 http://www.orpha.net/ORDO/Orphanet_1069 Aniridia - absent patella 'Aniridia - absent patella' SubClassOf 'Syndromic aniridia' 'Aniridia - absent patella' SubClassOf 'Syndromic developmental defect of the eye' 'Aniridia - absent patella' SubClassOf 'Syndromic aniridia' http://purl.obolibrary.org/obo/HP_0003752 Episodic flaccid weakness 'Episodic flaccid weakness' SubClassOf 'Muscle weakness' 'Episodic flaccid weakness' SubClassOf 'Muscle weakness' http://www.orpha.net/ORDO/Orphanet_2390 Lichstenstein syndrome 'Lichstenstein syndrome' SubClassOf 'Constitutional neutropenia with extra-haematopoietic manifestations' 'Lichstenstein syndrome' SubClassOf 'Constitutional neutropenia with extra-haematopoietic manifestations' http://purl.obolibrary.org/obo/UBERON_0001388 gastrocnemius 'gastrocnemius' SubClassOf 'hindlimb muscle' 'gastrocnemius' SubClassOf 'part_of' some 'hindlimb muscle' 'gastrocnemius' SubClassOf 'part_of' some 'zeugopod' 'gastrocnemius' SubClassOf http://purl.obolibrary.org/obo/UBERON_0004256 http://purl.obolibrary.org/obo/UBERON_0001389 soleus muscle 'soleus muscle' SubClassOf 'hindlimb muscle' 'soleus muscle' SubClassOf 'part_of' some 'zeugopod' 'soleus muscle' SubClassOf 'part_of' some 'hindlimb muscle' 'soleus muscle' SubClassOf http://purl.obolibrary.org/obo/UBERON_0004256 http://purl.obolibrary.org/obo/UBERON_0000059 large intestine 'large intestine' SubClassOf 'part_of' some 'intestine' 'large intestine' SubClassOf 'part_of' some 'digestive system' 'large intestine' SubClassOf 'develops_from' some 'digestive system' http://purl.obolibrary.org/obo/UBERON_0001384 primary motor cortex 'primary motor cortex' SubClassOf 'part_of' some 'frontal cortex' http://purl.obolibrary.org/obo/UBERON_0000057 urethra 'urethra' SubClassOf 'develops_from' some 'anal region' 'urethra' SubClassOf 'develops_from' some 'genitourinary system' 'urethra' SubClassOf 'develops_from' some 'digestive system' http://purl.obolibrary.org/obo/UBERON_0001385 tibialis anterior 'tibialis anterior' SubClassOf 'hindlimb muscle' 'tibialis anterior' SubClassOf http://purl.obolibrary.org/obo/UBERON_0008230 'tibialis anterior' SubClassOf 'part_of' some 'zeugopod' 'tibialis anterior' SubClassOf 'develops_from' some 'presomitic mesoderm' http://purl.obolibrary.org/obo/UBERON_0000056 ureter 'ureter' SubClassOf 'develops_from' some 'endoderm' 'ureter' SubClassOf 'part_of' some 'pelvis' 'ureter' SubClassOf 'develops_from' some 'mesoderm' 'ureter' SubClassOf 'develops_from' some 'ectoderm' 'ureter' SubClassOf 'part_of' some 'genitourinary system' 'ureter' SubClassOf 'develops_from' some 'primordium' http://www.ebi.ac.uk/efo/EFO_0009499 HCEC 2CT 'HCEC 2CT' SubClassOf 'part_of' some 'Homo sapiens' http://www.orpha.net/ORDO/Orphanet_1077 Dental ankylosis 'Dental ankylosis' SubClassOf 'Rare odontal or periodontal disorder' 'Dental ankylosis' SubClassOf 'tooth disease' 'Dental ankylosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003847 'Dental ankylosis' SubClassOf 'Rare odontal or periodontal disorder' 'Dental ankylosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002220 'Dental ankylosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018488 'Dental ankylosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002257 http://www.orpha.net/ORDO/Orphanet_1078 Thumb stiffness - brachydactyly - intellectual disability 'Thumb stiffness - brachydactyly - intellectual disability' SubClassOf 'Syndrome with brachydactyly' 'Thumb stiffness - brachydactyly - intellectual disability' SubClassOf 'Syndrome with brachydactyly' http://www.orpha.net/ORDO/Orphanet_159 Carnitine-acylcarnitine translocase deficiency 'Carnitine-acylcarnitine translocase deficiency' SubClassOf 'Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy' 'Carnitine-acylcarnitine translocase deficiency' SubClassOf 'Disorder of carnitine cycle and carnitine transport' 'Carnitine-acylcarnitine translocase deficiency' SubClassOf 'Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy' 'Carnitine-acylcarnitine translocase deficiency' SubClassOf 'Disorder of carnitine cycle and carnitine transport' http://www.ebi.ac.uk/efo/EFO_0009495 C1 100080003 'C1 100080003' SubClassOf 'has_quality' some 'female' http://www.orpha.net/ORDO/Orphanet_158 Systemic primary carnitine deficiency 'Systemic primary carnitine deficiency' SubClassOf 'Muscular lipidosis' 'Systemic primary carnitine deficiency' SubClassOf 'Disorder of carnitine cycle and carnitine transport' 'Systemic primary carnitine deficiency' SubClassOf 'Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy' 'Systemic primary carnitine deficiency' SubClassOf 'Muscular lipidosis' 'Systemic primary carnitine deficiency' SubClassOf 'Disorder of carnitine cycle and carnitine transport' 'Systemic primary carnitine deficiency' SubClassOf 'Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy' 'Systemic primary carnitine deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004736 http://www.ebi.ac.uk/efo/EFO_0009496 C1 100080013 'C1 100080013' SubClassOf 'has_quality' some 'male' http://www.orpha.net/ORDO/Orphanet_1074 Ankyloblepharon filiforme - imperforate anus 'Ankyloblepharon filiforme - imperforate anus' SubClassOf 'Syndromic ankyloblepharon' 'Ankyloblepharon filiforme - imperforate anus' SubClassOf 'Syndromic anorectal malformation' 'Ankyloblepharon filiforme - imperforate anus' SubClassOf 'Syndromic developmental defect of the eye' 'Ankyloblepharon filiforme - imperforate anus' SubClassOf 'Syndrome or malformation associated with head and neck malformations' 'Ankyloblepharon filiforme - imperforate anus' SubClassOf 'Syndromic ankyloblepharon' 'Ankyloblepharon filiforme - imperforate anus' SubClassOf 'Syndromic anorectal malformation' 'Ankyloblepharon filiforme - imperforate anus' SubClassOf 'Syndromic developmental defect of the eye' 'Ankyloblepharon filiforme - imperforate anus' SubClassOf 'Syndrome or malformation associated with head and neck malformations' 'Ankyloblepharon filiforme - imperforate anus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 http://www.orpha.net/ORDO/Orphanet_157 Carnitine palmitoyltransferase II deficiency 'Carnitine palmitoyltransferase II deficiency' SubClassOf 'Disorder of carnitine cycle and carnitine transport' 'Carnitine palmitoyltransferase II deficiency' SubClassOf 'Muscular lipidosis' 'Carnitine palmitoyltransferase II deficiency' SubClassOf 'Disorder of carnitine cycle and carnitine transport' 'Carnitine palmitoyltransferase II deficiency' SubClassOf 'Muscular lipidosis' http://www.ebi.ac.uk/efo/EFO_0008166 interleukin 1 beta measurement 'interleukin 1 beta measurement' SubClassOf 'blood protein measurement' 'interleukin 1 beta measurement' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0009497 MSLCL 'MSLCL' SubClassOf 'bearer_of' some 'type II diabetes mellitus' 'MSLCL' SubClassOf 'has_quality' some 'male' 'MSLCL' SubClassOf 'part_of' some 'Homo sapiens' 'MSLCL' SubClassOf 'part_of' some 'blood' http://www.orpha.net/ORDO/Orphanet_1071 Ankyloblepharon - ectodermal defects - cleft lip/palate 'Ankyloblepharon - ectodermal defects - cleft lip/palate' SubClassOf 'Syndrome or malformation associated with head and neck malformations' 'Ankyloblepharon - ectodermal defects - cleft lip/palate' SubClassOf 'Syndromic developmental defect of the eye' 'Ankyloblepharon - ectodermal defects - cleft lip/palate' SubClassOf 'Syndromic ankyloblepharon' 'Ankyloblepharon - ectodermal defects - cleft lip/palate' SubClassOf 'Genetic syndrome with limb reduction defects' 'Ankyloblepharon - ectodermal defects - cleft lip/palate' SubClassOf 'Ectodermal dysplasia syndrome' 'Ankyloblepharon - ectodermal defects - cleft lip/palate' SubClassOf 'Syndrome or malformation associated with head and neck malformations' 'Ankyloblepharon - ectodermal defects - cleft lip/palate' SubClassOf 'Syndromic developmental defect of the eye' 'Ankyloblepharon - ectodermal defects - cleft lip/palate' SubClassOf 'Syndromic ankyloblepharon' 'Ankyloblepharon - ectodermal defects - cleft lip/palate' SubClassOf 'Dysostosis with limb and face anomalies as a major feature' 'Ankyloblepharon - ectodermal defects - cleft lip/palate' SubClassOf 'Ectodermal dysplasia syndrome' 'Ankyloblepharon - ectodermal defects - cleft lip/palate' SubClassOf 'Genetic syndrome with limb reduction defects' 'Ankyloblepharon - ectodermal defects - cleft lip/palate' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 http://www.orpha.net/ORDO/Orphanet_156 Carnitine palmitoyl transferase 1A deficiency 'Carnitine palmitoyl transferase 1A deficiency' SubClassOf 'Disorder of carnitine cycle and carnitine transport' 'Carnitine palmitoyl transferase 1A deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0037858 'Carnitine palmitoyl transferase 1A deficiency' SubClassOf 'Disorder of carnitine cycle and carnitine transport' http://www.ebi.ac.uk/efo/EFO_0009498 MSiPS 'MSiPS' SubClassOf 'part_of' some 'Homo sapiens' 'MSiPS' SubClassOf 'bearer_of' some 'type II diabetes mellitus' 'MSiPS' SubClassOf 'part_of' some 'blood' 'MSiPS' SubClassOf 'has_quality' some 'male' http://www.orpha.net/ORDO/Orphanet_1072 Ankyloblepharon filiforme adnatum - cleft palate 'Ankyloblepharon filiforme adnatum - cleft palate' SubClassOf 'Orofacial clefting syndrome' 'Ankyloblepharon filiforme adnatum - cleft palate' SubClassOf 'Syndromic developmental defect of the eye' 'Ankyloblepharon filiforme adnatum - cleft palate' SubClassOf 'Syndromic ankyloblepharon' 'Ankyloblepharon filiforme adnatum - cleft palate' SubClassOf 'Orofacial clefting syndrome' 'Ankyloblepharon filiforme adnatum - cleft palate' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 'Ankyloblepharon filiforme adnatum - cleft palate' SubClassOf 'Syndromic developmental defect of the eye' 'Ankyloblepharon filiforme adnatum - cleft palate' SubClassOf 'Syndromic ankyloblepharon' http://www.orpha.net/ORDO/Orphanet_154 Familial isolated dilated cardiomyopathy 'Familial isolated dilated cardiomyopathy' SubClassOf 'Familial dilated cardiomyopathy' 'Familial isolated dilated cardiomyopathy' SubClassOf 'Qualitative or quantitative defects of dystrophin' 'Familial isolated dilated cardiomyopathy' SubClassOf 'Familial dilated cardiomyopathy' 'Familial isolated dilated cardiomyopathy' SubClassOf 'Qualitative or quantitative defects of dystrophin' http://www.orpha.net/ORDO/Orphanet_71289 Radio-ulnar synostosis - amegakaryocytic thrombocytopenia 'Radio-ulnar synostosis - amegakaryocytic thrombocytopenia' SubClassOf 'Syndrome with synostosis or other joint formation defect' 'Radio-ulnar synostosis - amegakaryocytic thrombocytopenia' SubClassOf 'Rare hemorrhagic disorder due to a constitutional thrombocytopenia' 'Radio-ulnar synostosis - amegakaryocytic thrombocytopenia' SubClassOf 'Syndrome with synostosis or other joint formation defect' 'Radio-ulnar synostosis - amegakaryocytic thrombocytopenia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0009332 'Radio-ulnar synostosis - amegakaryocytic thrombocytopenia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018795 http://www.orpha.net/ORDO/Orphanet_397922 Ferro-cerebro-cutaneous syndrome 'Ferro-cerebro-cutaneous syndrome' SubClassOf 'Genetic neurodegenerative disease' 'Ferro-cerebro-cutaneous syndrome' SubClassOf 'Genetic parenchymatous liver disease' 'Ferro-cerebro-cutaneous syndrome' SubClassOf 'Genetic neurodegenerative disease' 'Ferro-cerebro-cutaneous syndrome' SubClassOf 'Genetic parenchymatous liver disease' 'Ferro-cerebro-cutaneous syndrome' SubClassOf 'Inborn errors of metabolism' http://www.orpha.net/ORDO/Orphanet_1088 Short stature-heart defect-craniofacial anomalies syndrome 'Short stature-heart defect-craniofacial anomalies syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' 'Short stature-heart defect-craniofacial anomalies syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' 'Short stature-heart defect-craniofacial anomalies syndrome' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Short stature-heart defect-craniofacial anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007 http://www.orpha.net/ORDO/Orphanet_1084 Isolated lissencephaly type 1 without known genetic defects 'Isolated lissencephaly type 1 without known genetic defects' SubClassOf 'Classic lissencephaly' 'Isolated lissencephaly type 1 without known genetic defects' SubClassOf 'Classic lissencephaly' http://www.orpha.net/ORDO/Orphanet_169 Ringed hair disease 'Ringed hair disease' SubClassOf 'Isolated hair shaft abnormality' 'Ringed hair disease' SubClassOf 'Isolated hair shaft abnormality' http://www.orpha.net/ORDO/Orphanet_168 Loose anagen syndrome 'Loose anagen syndrome' SubClassOf 'Alopecia' 'Loose anagen syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021034 'Loose anagen syndrome' SubClassOf 'Alopecia' 'Loose anagen syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021147 http://www.orpha.net/ORDO/Orphanet_167 Chédiak-Higashi syndrome 'Chédiak-Higashi syndrome' SubClassOf 'Constitutional neutropenia with extra-haematopoietic manifestations' 'Chédiak-Higashi syndrome' SubClassOf 'Immunodeficiency syndrome with hypopigmentation' 'Chédiak-Higashi syndrome' SubClassOf 'Rare hereditary disease with peripheral neuropathy' 'Chédiak-Higashi syndrome' SubClassOf 'Syndromic oculocutaneous albinism' 'Chédiak-Higashi syndrome' SubClassOf 'Genetic neurodegenerative disease' 'Chédiak-Higashi syndrome' SubClassOf 'Disorder of lysosomal-related organelles' 'Chédiak-Higashi syndrome' SubClassOf 'Dense granule disease' 'Chédiak-Higashi syndrome' SubClassOf 'Genetic immune deficiency with skin involvement' 'Chédiak-Higashi syndrome' SubClassOf 'Constitutional neutropenia with extra-haematopoietic manifestations' 'Chédiak-Higashi syndrome' SubClassOf 'Immunodeficiency syndrome with hypopigmentation' 'Chédiak-Higashi syndrome' SubClassOf 'Rare hereditary disease with peripheral neuropathy' 'Chédiak-Higashi syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004884 'Chédiak-Higashi syndrome' SubClassOf 'Syndromic oculocutaneous albinism' 'Chédiak-Higashi syndrome' SubClassOf 'Genetic neurodegenerative disease' 'Chédiak-Higashi syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Chédiak-Higashi syndrome' SubClassOf 'Disorder of lysosomal-related organelles' 'Chédiak-Higashi syndrome' SubClassOf 'Dense granule disease' 'Chédiak-Higashi syndrome' SubClassOf 'Genetic immune deficiency with skin involvement' http://www.orpha.net/ORDO/Orphanet_1083 Microlissencephaly 'Microlissencephaly' SubClassOf 'Lissencephaly' 'Microlissencephaly' SubClassOf 'Lissencephaly' http://www.orpha.net/ORDO/Orphanet_166 Charcot-Marie-Tooth disease 'Charcot-Marie-Tooth disease' SubClassOf 'Genetic peripheral neuropathy' 'Charcot-Marie-Tooth disease' SubClassOf 'neuromuscular disease' 'Charcot-Marie-Tooth disease' SubClassOf 'Genetic peripheral neuropathy' http://www.orpha.net/ORDO/Orphanet_165 Neutral lipid storage disease 'Neutral lipid storage disease' SubClassOf 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement' 'Neutral lipid storage disease' SubClassOf 'Muscular lipidosis' 'Neutral lipid storage disease' SubClassOf 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement' 'Neutral lipid storage disease' SubClassOf 'Lipid storage disease' 'Neutral lipid storage disease' SubClassOf 'Muscular lipidosis' http://www.orpha.net/ORDO/Orphanet_163 Hereditary hyperferritinemia with congenital cataracts 'Hereditary hyperferritinemia with congenital cataracts' SubClassOf 'Syndromic cataract' 'Hereditary hyperferritinemia with congenital cataracts' SubClassOf 'Metabolic disease with cataract' 'Hereditary hyperferritinemia with congenital cataracts' SubClassOf 'Syndromic cataract' 'Hereditary hyperferritinemia with congenital cataracts' SubClassOf 'Metabolic disease with cataract' http://www.orpha.net/ORDO/Orphanet_71278 Congenital brain dysgenesis due to glutamine synthetase deficiency 'Congenital brain dysgenesis due to glutamine synthetase deficiency' SubClassOf 'Neurometabolic disease' 'Congenital brain dysgenesis due to glutamine synthetase deficiency' SubClassOf 'Disorder of glutamine metabolism' 'Congenital brain dysgenesis due to glutamine synthetase deficiency' SubClassOf 'Neurometabolic disease' 'Congenital brain dysgenesis due to glutamine synthetase deficiency' SubClassOf 'Disorder of glutamine metabolism' http://www.orpha.net/ORDO/Orphanet_162 Cataract-glaucoma 'Cataract-glaucoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Cataract-glaucoma' SubClassOf 'Syndromic developmental defect of the eye' http://purl.obolibrary.org/obo/CHEBI_5757 homostachydrine 'homostachydrine' SubClassOf 'chemical entity' 'homostachydrine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_83501 acesulfame 'acesulfame' SubClassOf 'chemical entity' 'acesulfame' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/UBERON_0000074 renal glomerulus 'renal glomerulus' SubClassOf 'develops_from' some 'mesonephros' 'renal glomerulus' SubClassOf 'part_of' some 'kidney' 'renal glomerulus' SubClassOf 'develops_from' some 'nephron tubule' http://purl.obolibrary.org/obo/UBERON_0000079 male reproductive system 'male reproductive system' SubClassOf 'part_of' some 'genitourinary system' 'male reproductive system' DisjointWith 'female reproductive system' http://www.orpha.net/ORDO/Orphanet_357001 19p13.13 microdeletion syndrome '19p13.13 microdeletion syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '19p13.13 microdeletion syndrome' SubClassOf 'Partial deletion of the short arm of chromosome 19' '19p13.13 microdeletion syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '19p13.13 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000761 '19p13.13 microdeletion syndrome' SubClassOf 'Partial deletion of the short arm of chromosome 19' '19p13.13 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 '19p13.13 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 http://www.orpha.net/ORDO/Orphanet_179 Birdshot chorioretinopathy 'Birdshot chorioretinopathy' SubClassOf 'has_disease_location' some 'eye' 'Birdshot chorioretinopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019541 'Birdshot chorioretinopathy' SubClassOf 'has_disease_location' some 'immune system' http://www.orpha.net/ORDO/Orphanet_178 Chordoma 'Chordoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002597 http://www.orpha.net/ORDO/Orphanet_1094 Anonychia - microcephaly 'Anonychia - microcephaly' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Anonychia - microcephaly' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_177 Rhizomelic chondrodysplasia punctata 'Rhizomelic chondrodysplasia punctata' SubClassOf 'Chondrodysplasia punctata' 'Rhizomelic chondrodysplasia punctata' SubClassOf 'Musculoskeletal disease with cataract' 'Rhizomelic chondrodysplasia punctata' SubClassOf 'Peroxisomal disease' 'Rhizomelic chondrodysplasia punctata' SubClassOf 'Metabolic disease with cataract' 'Rhizomelic chondrodysplasia punctata' SubClassOf 'Neurometabolic disease' 'Rhizomelic chondrodysplasia punctata' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 'Rhizomelic chondrodysplasia punctata' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'Rhizomelic chondrodysplasia punctata' SubClassOf 'Musculoskeletal disease with cataract' 'Rhizomelic chondrodysplasia punctata' SubClassOf 'Chondrodysplasia punctata' 'Rhizomelic chondrodysplasia punctata' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017986 'Rhizomelic chondrodysplasia punctata' SubClassOf 'Metabolic disease with cataract' 'Rhizomelic chondrodysplasia punctata' SubClassOf 'Rare syndromic dyslipidemia' 'Rhizomelic chondrodysplasia punctata' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016398 'Rhizomelic chondrodysplasia punctata' SubClassOf 'Neurometabolic disease' http://www.orpha.net/ORDO/Orphanet_176 Non-rhizomelic chondrodysplasia punctata 'Non-rhizomelic chondrodysplasia punctata' SubClassOf 'Chondrodysplasia punctata' 'Non-rhizomelic chondrodysplasia punctata' SubClassOf 'Chondrodysplasia punctata' http://www.orpha.net/ORDO/Orphanet_175 Cartilage-hair hypoplasia 'Cartilage-hair hypoplasia' SubClassOf 'Ectodermal dysplasia syndrome' 'Cartilage-hair hypoplasia' SubClassOf 'Multiple metaphyseal dysplasia' 'Cartilage-hair hypoplasia' SubClassOf 'Immuno-osseous dysplasia' 'Cartilage-hair hypoplasia' SubClassOf 'Ectodermal dysplasia syndrome' 'Cartilage-hair hypoplasia' SubClassOf 'Multiple metaphyseal dysplasia' 'Cartilage-hair hypoplasia' SubClassOf 'Immuno-osseous dysplasia' 'Cartilage-hair hypoplasia' SubClassOf 'autosomal recessive disease' 'Cartilage-hair hypoplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 http://www.orpha.net/ORDO/Orphanet_174 Metaphyseal chondrodysplasia, Schmid type 'Metaphyseal chondrodysplasia, Schmid type' SubClassOf 'Multiple metaphyseal dysplasia' 'Metaphyseal chondrodysplasia, Schmid type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000138 'Metaphyseal chondrodysplasia, Schmid type' SubClassOf 'Multiple metaphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_71267 Dentinogenesis imperfecta - short stature - hearing loss - intellectual disability 'Dentinogenesis imperfecta - short stature - hearing loss - intellectual disability' SubClassOf 'Malformative syndrome with dentinogenesis imperfecta' 'Dentinogenesis imperfecta - short stature - hearing loss - intellectual disability' SubClassOf 'Syndromic genetic deafness' 'Dentinogenesis imperfecta - short stature - hearing loss - intellectual disability' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Dentinogenesis imperfecta - short stature - hearing loss - intellectual disability' SubClassOf 'Malformative syndrome with dentinogenesis imperfecta' 'Dentinogenesis imperfecta - short stature - hearing loss - intellectual disability' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_357008 Atypical hemolytic-uremic syndrome with DGKE deficiency 'Atypical hemolytic-uremic syndrome with DGKE deficiency' SubClassOf 'Atypical hemolytic-uremic syndrome' 'Atypical hemolytic-uremic syndrome with DGKE deficiency' SubClassOf 'Atypical hemolytic-uremic syndrome' http://www.orpha.net/ORDO/Orphanet_172 Progressive familial intrahepatic cholestasis 'Progressive familial intrahepatic cholestasis' SubClassOf 'Disorder of bilirubin metabolism and excretion' 'Progressive familial intrahepatic cholestasis' SubClassOf 'Familial intrahepatic cholestasis' 'Progressive familial intrahepatic cholestasis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Progressive familial intrahepatic cholestasis' SubClassOf 'Disorder of bilirubin metabolism and excretion' 'Progressive familial intrahepatic cholestasis' SubClassOf 'Familial intrahepatic cholestasis' http://www.orpha.net/ORDO/Orphanet_170 Woolly hair 'Woolly hair' SubClassOf 'Isolated hair shaft abnormality' 'Woolly hair' SubClassOf 'Isolated hair shaft abnormality' http://purl.obolibrary.org/obo/UBERON_0000080 mesonephros 'mesonephros' SubClassOf 'develops_from' some 'pronephros' http://www.orpha.net/ORDO/Orphanet_71270 Auriculoocular anomalies - cleft lip 'Auriculoocular anomalies - cleft lip' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 http://www.orpha.net/ORDO/Orphanet_71271 Split hand - split foot - deafness 'Split hand - split foot - deafness' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Split hand - split foot - deafness' SubClassOf 'Genetic syndrome with limb reduction defects' 'Split hand - split foot - deafness' SubClassOf 'Syndromic genetic deafness' 'Split hand - split foot - deafness' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Split hand - split foot - deafness' SubClassOf 'Genetic syndrome with limb reduction defects' 'Split hand - split foot - deafness' SubClassOf 'Syndromic genetic deafness' 'Split hand - split foot - deafness' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_71277 Encephalopathy due to GLUT1 deficiency 'Encephalopathy due to GLUT1 deficiency' SubClassOf 'Glucose transport disorder' 'Encephalopathy due to GLUT1 deficiency' SubClassOf 'Neurometabolic disease' 'Encephalopathy due to GLUT1 deficiency' SubClassOf 'Glucose transport disorder' 'Encephalopathy due to GLUT1 deficiency' SubClassOf 'Neurometabolic disease' 'Encephalopathy due to GLUT1 deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016406 'Encephalopathy due to GLUT1 deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000188 http://www.orpha.net/ORDO/Orphanet_71275 Rh deficiency syndrome 'Rh deficiency syndrome' SubClassOf 'Hereditary stomatocytosis' 'Rh deficiency syndrome' SubClassOf 'Hereditary stomatocytosis' http://purl.obolibrary.org/obo/UBERON_0000087 inner cell mass 'inner cell mass' SubClassOf 'part_of' some 'embryo' 'inner cell mass' SubClassOf 'develops_from' some 'blastocyst' http://www.orpha.net/ORDO/Orphanet_1092 Renal-genital-middle ear anomalies 'Renal-genital-middle ear anomalies' SubClassOf 'Syndromic renal or urinary tract malformation' 'Renal-genital-middle ear anomalies' SubClassOf 'Syndromic renal or urinary tract malformation' 'Renal-genital-middle ear anomalies' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015161 http://purl.obolibrary.org/obo/UBERON_0000089 hypoblast (generic) 'hypoblast (generic)' SubClassOf 'embryonic structure' 'hypoblast (generic)' SubClassOf 'embryonic structure' http://www.orpha.net/ORDO/Orphanet_1143 Neurogenic arthrogryposis multiplex congenita 'Neurogenic arthrogryposis multiplex congenita' SubClassOf 'Arthrogryposis multiplex congenita' 'Neurogenic arthrogryposis multiplex congenita' SubClassOf 'Arthrogryposis multiplex congenita' http://www.orpha.net/ORDO/Orphanet_2475 White forelock with malformations 'White forelock with malformations' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'White forelock with malformations' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'White forelock with malformations' SubClassOf 'Rare syndrome with cardiac malformations' http://www.orpha.net/ORDO/Orphanet_1144 Arthrogryposis-like hand anomaly - sensorineural deafness 'Arthrogryposis-like hand anomaly - sensorineural deafness' SubClassOf 'Syndromic genetic deafness' 'Arthrogryposis-like hand anomaly - sensorineural deafness' SubClassOf 'Distal arthrogryposis' 'Arthrogryposis-like hand anomaly - sensorineural deafness' SubClassOf 'Syndromic genetic deafness' 'Arthrogryposis-like hand anomaly - sensorineural deafness' SubClassOf 'Distal arthrogryposis' http://www.orpha.net/ORDO/Orphanet_2473 McKusick-Kaufman syndrome 'McKusick-Kaufman syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'McKusick-Kaufman syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_2471 McDonough syndrome 'McDonough syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'McDonough syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'McDonough syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'McDonough syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 http://www.orpha.net/ORDO/Orphanet_261229 14q11.2 microduplication syndrome '14q11.2 microduplication syndrome' SubClassOf 'Partial duplication of the long arm of chromosome 14' '14q11.2 microduplication syndrome' SubClassOf 'Partial duplication of the long arm of chromosome 14' http://www.orpha.net/ORDO/Orphanet_2470 Matthew-Wood syndrome 'Matthew-Wood syndrome' SubClassOf 'Syndromic microphthalmia' 'Matthew-Wood syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Matthew-Wood syndrome' SubClassOf 'Genetic respiratory malformation' 'Matthew-Wood syndrome' SubClassOf 'Isolated anophthalmia - microphthalmia' 'Matthew-Wood syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000062 'Matthew-Wood syndrome' SubClassOf 'Syndromic microphthalmia' 'Matthew-Wood syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015880 'Matthew-Wood syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015929 'Matthew-Wood syndrome' SubClassOf 'Rare genetic neurological disorder' 'Matthew-Wood syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Matthew-Wood syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015222 'Matthew-Wood syndrome' SubClassOf 'Genetic respiratory malformation' 'Matthew-Wood syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015216 'Matthew-Wood syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015215 http://www.orpha.net/ORDO/Orphanet_1149 Arthrogryposis-like syndrome 'Arthrogryposis-like syndrome' SubClassOf 'Arthrogryposis multiplex congenita' 'Arthrogryposis-like syndrome' SubClassOf 'Arthrogryposis multiplex congenita' http://www.orpha.net/ORDO/Orphanet_1147 Sheldon-Hall syndrome 'Sheldon-Hall syndrome' SubClassOf 'Distal arthrogryposis' 'Sheldon-Hall syndrome' SubClassOf 'congenital contractures of the limbs and face, hypotonia, and developmental delay' 'Sheldon-Hall syndrome' SubClassOf 'Arthrogryposis with oculomotor limitation and electroretinal anomalies' http://www.orpha.net/ORDO/Orphanet_2479 Megalocornea-intellectual disability syndrome 'Megalocornea-intellectual disability syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Megalocornea-intellectual disability syndrome' SubClassOf 'Rare disease with glaucoma as a major feature' 'Megalocornea-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Megalocornea-intellectual disability syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Megalocornea-intellectual disability syndrome' SubClassOf 'Rare disease with glaucoma as a major feature' http://www.orpha.net/ORDO/Orphanet_2478 Megalencephalic leukoencephalopathy with subcortical cysts 'Megalencephalic leukoencephalopathy with subcortical cysts' SubClassOf 'Leukodystrophy' 'Megalencephalic leukoencephalopathy with subcortical cysts' SubClassOf 'Leukodystrophy' 'Megalencephalic leukoencephalopathy with subcortical cysts' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000137 http://www.orpha.net/ORDO/Orphanet_275872 Frontotemporal dementia with motor neuron disease 'Frontotemporal dementia with motor neuron disease' SubClassOf 'Genetic frontotemporal degeneration with dementia' 'Frontotemporal dementia with motor neuron disease' SubClassOf 'Frontotemporal neurodegeneration with movement disorder' 'Frontotemporal dementia with motor neuron disease' SubClassOf 'Genetic frontotemporal degeneration with dementia' 'Frontotemporal dementia with motor neuron disease' SubClassOf 'Frontotemporal neurodegeneration with movement disorder' 'Frontotemporal dementia with motor neuron disease' SubClassOf 'Genetic neurodegenerative disease with dementia' http://www.orpha.net/ORDO/Orphanet_1145 X-linked distal arthrogryposis multiplex congenita 'X-linked distal arthrogryposis multiplex congenita' SubClassOf 'Arthrogryposis multiplex congenita' 'X-linked distal arthrogryposis multiplex congenita' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'X-linked distal arthrogryposis multiplex congenita' SubClassOf 'Arthrogryposis multiplex congenita' 'X-linked distal arthrogryposis multiplex congenita' SubClassOf 'spinal muscular atrophy' http://www.orpha.net/ORDO/Orphanet_1146 Digitotalar dysmorphism 'Digitotalar dysmorphism' SubClassOf 'Distal arthrogryposis' 'Digitotalar dysmorphism' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Digitotalar dysmorphism' SubClassOf 'Distal arthrogryposis' 'Digitotalar dysmorphism' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_2476 Medeira-Dennis-Donnai syndrome 'Medeira-Dennis-Donnai syndrome' SubClassOf 'Orofacial clefting syndrome' 'Medeira-Dennis-Donnai syndrome' SubClassOf 'Orofacial clefting syndrome' http://www.orpha.net/ORDO/Orphanet_261236 16p13.11 microdeletion syndrome '16p13.11 microdeletion syndrome' SubClassOf 'Partial deletion of the short arm of chromosome 16' '16p13.11 microdeletion syndrome' SubClassOf 'Partial deletion of the short arm of chromosome 16' http://www.orpha.net/ORDO/Orphanet_1154 Arthrogryposis with oculomotor limitation and electroretinal anomalies 'Arthrogryposis with oculomotor limitation and electroretinal anomalies' SubClassOf 'Distal arthrogryposis' 'Arthrogryposis with oculomotor limitation and electroretinal anomalies' SubClassOf 'Distal arthrogryposis' http://www.orpha.net/ORDO/Orphanet_1155 Arthrogryposis due to muscular dystrophy 'Arthrogryposis due to muscular dystrophy' SubClassOf 'Congenital muscular dystrophy' 'Arthrogryposis due to muscular dystrophy' SubClassOf 'Arthrogryposis multiplex congenita' 'Arthrogryposis due to muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Arthrogryposis due to muscular dystrophy' SubClassOf 'Congenital muscular dystrophy' 'Arthrogryposis due to muscular dystrophy' SubClassOf 'Arthrogryposis multiplex congenita' http://www.orpha.net/ORDO/Orphanet_2485 Melorheostosis 'Melorheostosis' SubClassOf 'Osteopetrosis' 'Melorheostosis' SubClassOf 'Osteopetrosis' http://www.orpha.net/ORDO/Orphanet_2484 Osteodysplasty, Melnick-Needles type 'Osteodysplasty, Melnick-Needles type' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Osteodysplasty, Melnick-Needles type' SubClassOf 'Syndromic developmental defect of the eye' 'Osteodysplasty, Melnick-Needles type' SubClassOf 'X-linked syndromic intellectual disability' 'Osteodysplasty, Melnick-Needles type' SubClassOf 'Rare disease with glaucoma as a major feature' 'Osteodysplasty, Melnick-Needles type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018233 'Osteodysplasty, Melnick-Needles type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 'Osteodysplasty, Melnick-Needles type' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Osteodysplasty, Melnick-Needles type' SubClassOf 'Syndromic developmental defect of the eye' 'Osteodysplasty, Melnick-Needles type' SubClassOf 'X-linked syndromic intellectual disability' 'Osteodysplasty, Melnick-Needles type' SubClassOf 'Rare disease with glaucoma as a major feature' http://www.ebi.ac.uk/efo/EFO_0008087 coagulation factor V measurement 'coagulation factor V measurement' SubClassOf 'is_about' some 'blood coagulation' http://www.orpha.net/ORDO/Orphanet_1150 Arthrogryposis multiplex congenita - whistling face 'Arthrogryposis multiplex congenita - whistling face' SubClassOf 'Arthrogryposis multiplex congenita' 'Arthrogryposis multiplex congenita - whistling face' SubClassOf 'Syndrome or malformation associated with head and neck malformations' 'Arthrogryposis multiplex congenita - whistling face' SubClassOf 'Arthrogryposis multiplex congenita' 'Arthrogryposis multiplex congenita - whistling face' SubClassOf 'Syndrome or malformation associated with head and neck malformations' http://www.orpha.net/ORDO/Orphanet_2482 Melhem-Fahl syndrome 'Melhem-Fahl syndrome' SubClassOf 'Dysostosis with predominant vertebral and costal involvement' 'Melhem-Fahl syndrome' SubClassOf 'Dysostosis with predominant vertebral and costal involvement' http://www.orpha.net/ORDO/Orphanet_275864 Behavioral variant of frontotemporal dementia 'Behavioral variant of frontotemporal dementia' SubClassOf 'Frontotemporal dementia' 'Behavioral variant of frontotemporal dementia' SubClassOf 'Frontotemporal neurodegeneration with movement disorder' 'Behavioral variant of frontotemporal dementia' SubClassOf 'Frontotemporal dementia' 'Behavioral variant of frontotemporal dementia' SubClassOf 'Frontotemporal neurodegeneration with movement disorder' http://www.orpha.net/ORDO/Orphanet_1159 Progressive pseudorheumatoid arthropathy of childhood 'Progressive pseudorheumatoid arthropathy of childhood' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Progressive pseudorheumatoid arthropathy of childhood' SubClassOf 'osteochondrodysplasia' 'Progressive pseudorheumatoid arthropathy of childhood' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_2489 Upper limb defect - eye and ear abnormalities 'Upper limb defect - eye and ear abnormalities' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Upper limb defect - eye and ear abnormalities' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Upper limb defect - eye and ear abnormalities' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Upper limb defect - eye and ear abnormalities' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 http://www.orpha.net/ORDO/Orphanet_2487 Lower limb deficiency - hypospadias 'Lower limb deficiency - hypospadias' SubClassOf 'Syndromic urogenital tract malformation' 'Lower limb deficiency - hypospadias' SubClassOf 'Syndromic urogenital tract malformation' http://purl.obolibrary.org/obo/CHEBI_33287 fertilizer 'fertilizer' SubClassOf 'inheres_in' some 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_33286 agrochemical role 'agrochemical role' SubClassOf 'inheres_in' some 'chemical entity' http://www.orpha.net/ORDO/Orphanet_261222 Distal 16p11.2 microdeletion syndrome 'Distal 16p11.2 microdeletion syndrome' SubClassOf 'Syndromic obesity' 'Distal 16p11.2 microdeletion syndrome' SubClassOf 'Partial deletion of the short arm of chromosome 16' 'Distal 16p11.2 microdeletion syndrome' SubClassOf 'Partial deletion of the short arm of chromosome 16' 'Distal 16p11.2 microdeletion syndrome' SubClassOf 'Syndromic obesity' 'Distal 16p11.2 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000761 http://www.orpha.net/ORDO/Orphanet_2497 Upper limb mesomelic dysplasia 'Upper limb mesomelic dysplasia' SubClassOf 'Mesomelic and rhizo-mesomelic dysplasia' 'Upper limb mesomelic dysplasia' SubClassOf 'Mesomelic and rhizo-mesomelic dysplasia' http://www.orpha.net/ORDO/Orphanet_1166 Congenital unilateral hypoplasia of depressor anguli oris 'Congenital unilateral hypoplasia of depressor anguli oris' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' 'Congenital unilateral hypoplasia of depressor anguli oris' SubClassOf '22q11.2 deletion syndrome' http://www.orpha.net/ORDO/Orphanet_2496 Mesomelia-synostoses syndrome 'Mesomelia-synostoses syndrome' SubClassOf 'Acromesomelic dysplasia' 'Mesomelia-synostoses syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 8' 'Mesomelia-synostoses syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 'Mesomelia-synostoses syndrome' SubClassOf 'Acromesomelic dysplasia' 'Mesomelia-synostoses syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 8' http://www.orpha.net/ORDO/Orphanet_2495 Meningioma 'Meningioma' SubClassOf 'has_disease_location' some 'meninx' 'Meningioma' SubClassOf 'has_disease_location' some 'endocrine system' http://www.orpha.net/ORDO/Orphanet_2492 Limb transversal defect - cardiac anomaly 'Limb transversal defect - cardiac anomaly' SubClassOf 'Genetic syndrome with limb reduction defects' 'Limb transversal defect - cardiac anomaly' SubClassOf 'Genetic syndrome with limb reduction defects' 'Limb transversal defect - cardiac anomaly' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' http://www.orpha.net/ORDO/Orphanet_2491 Müllerian duct anomalies - limb anomalies 'Müllerian duct anomalies - limb anomalies' SubClassOf 'Syndromic urogenital tract malformation' 'Müllerian duct anomalies - limb anomalies' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Müllerian duct anomalies - limb anomalies' SubClassOf 'Syndromic urogenital tract malformation' 'Müllerian duct anomalies - limb anomalies' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Müllerian duct anomalies - limb anomalies' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015846 http://www.orpha.net/ORDO/Orphanet_261204 16p11.2p12.2 microduplication syndrome '16p11.2p12.2 microduplication syndrome' SubClassOf 'Partial duplication of the short arm of chromosome 16' '16p11.2p12.2 microduplication syndrome' SubClassOf 'Partial duplication of the short arm of chromosome 16' http://www.orpha.net/ORDO/Orphanet_2499 Metachondromatosis 'Metachondromatosis' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'Metachondromatosis' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' http://www.orpha.net/ORDO/Orphanet_1168 Ataxia - oculomotor apraxia type 1 'Ataxia - oculomotor apraxia type 1' SubClassOf 'Oculomotor apraxia or related oculomotor disease' 'Ataxia - oculomotor apraxia type 1' SubClassOf 'Autosomal recessive cerebellar ataxia due to a DNA repair defect' 'Ataxia - oculomotor apraxia type 1' SubClassOf 'Coenzyme Q10 deficiency' 'Ataxia - oculomotor apraxia type 1' SubClassOf 'Autosomal recessive ataxia due to ubiquinone deficiency' 'Ataxia - oculomotor apraxia type 1' SubClassOf 'Oculomotor apraxia or related oculomotor disease' 'Ataxia - oculomotor apraxia type 1' SubClassOf 'disease has feature' some 'Coenzyme Q10 deficiency' 'Ataxia - oculomotor apraxia type 1' SubClassOf 'Ataxia-telangiectasia-like disorder' http://www.orpha.net/ORDO/Orphanet_2498 Syndactyly type 8 'Syndactyly type 8' SubClassOf 'Syndactyly' 'Syndactyly type 8' SubClassOf 'Syndactyly' http://www.orpha.net/ORDO/Orphanet_1177 Early-onset cerebellar ataxia with retained tendon reflexes 'Early-onset cerebellar ataxia with retained tendon reflexes' SubClassOf 'Autosomal recessive degenerative and progressive cerebellar ataxia' 'Early-onset cerebellar ataxia with retained tendon reflexes' SubClassOf 'Autosomal recessive degenerative and progressive cerebellar ataxia' http://www.orpha.net/ORDO/Orphanet_1174 Cerebellar ataxia - ectodermal dysplasia 'Cerebellar ataxia - ectodermal dysplasia' SubClassOf 'Ectodermal dysplasia syndrome' 'Cerebellar ataxia - ectodermal dysplasia' SubClassOf 'Ectodermal dysplasia syndrome' http://www.orpha.net/ORDO/Orphanet_1175 X-linked progressive cerebellar ataxia 'X-linked progressive cerebellar ataxia' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked progressive cerebellar ataxia' SubClassOf 'X-linked cerebellar ataxia' 'X-linked progressive cerebellar ataxia' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked progressive cerebellar ataxia' SubClassOf 'X-linked cerebellar ataxia' http://www.orpha.net/ORDO/Orphanet_1172 Autosomal recessive cerebellar ataxia 'Autosomal recessive cerebellar ataxia' SubClassOf 'Spinocerebellar ataxia with oculomotor anomaly' 'Autosomal recessive cerebellar ataxia' SubClassOf 'Early-onset ataxia with dementia' 'Autosomal recessive cerebellar ataxia' SubClassOf 'autosomal recessive disease' 'Autosomal recessive cerebellar ataxia' SubClassOf 'hereditary ataxia' 'Autosomal recessive cerebellar ataxia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004884 'Autosomal recessive cerebellar ataxia' SubClassOf 'Early-onset ataxia with dementia' 'Autosomal recessive cerebellar ataxia' SubClassOf 'Spinocerebellar ataxia with oculomotor anomaly' 'Autosomal recessive cerebellar ataxia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0022687 http://www.orpha.net/ORDO/Orphanet_1173 Cerebellar ataxia - hypogonadism 'Cerebellar ataxia - hypogonadism' SubClassOf 'Rare disorder with hypogonadotropic hypogonadism' 'Cerebellar ataxia - hypogonadism' SubClassOf 'Rare disorder with hypogonadotropic hypogonadism' 'Cerebellar ataxia - hypogonadism' SubClassOf 'hereditary ataxia' http://www.orpha.net/ORDO/Orphanet_1170 Autosomal recessive cerebelloparenchymal disorder type 3 'Autosomal recessive cerebelloparenchymal disorder type 3' SubClassOf 'Autosomal recessive congenital cerebellar ataxia' 'Autosomal recessive cerebelloparenchymal disorder type 3' SubClassOf 'Autosomal recessive congenital cerebellar ataxia' http://www.orpha.net/ORDO/Orphanet_1171 Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss 'Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss' SubClassOf 'Syndromic genetic deafness' 'Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' 'Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss' SubClassOf 'Autosomal dominant optic atrophy' 'Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss' SubClassOf 'Autosomal dominant optic atrophy plus syndrome' 'Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss' SubClassOf 'Metabolic disease with dementia' 'Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018609 'Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss' SubClassOf 'Syndromic genetic deafness' 'Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' http://www.orpha.net/ORDO/Orphanet_1178 Ataxia - tapetoretinal degeneration 'Ataxia - tapetoretinal degeneration' SubClassOf 'hereditary ataxia' http://www.orpha.net/ORDO/Orphanet_1179 Benign paroxysmal tonic upgaze of childhood with ataxia 'Benign paroxysmal tonic upgaze of childhood with ataxia' SubClassOf 'Rare paroxysmal movement disorder' 'Benign paroxysmal tonic upgaze of childhood with ataxia' SubClassOf 'Rare paroxysmal movement disorder' http://www.orpha.net/ORDO/Orphanet_2431 Central bilateral macrogyria 'Central bilateral macrogyria' SubClassOf 'Cerebral cortical dysplasia' 'Central bilateral macrogyria' SubClassOf 'Cerebral cortical dysplasia' http://www.orpha.net/ORDO/Orphanet_2430 Congenital macroglossia 'Congenital macroglossia' SubClassOf 'Macroglossia' 'Congenital macroglossia' SubClassOf 'Macroglossia' http://purl.obolibrary.org/obo/CHEBI_71466 oleoyl ethanolamide 'oleoyl ethanolamide' SubClassOf 'lipid' 'oleoyl ethanolamide' SubClassOf 'lipid' http://purl.obolibrary.org/obo/CHEBI_71464 palmitoyl ethanolamide 'palmitoyl ethanolamide' SubClassOf 'lipid' 'palmitoyl ethanolamide' SubClassOf 'lipid' http://www.orpha.net/ORDO/Orphanet_2439 Patterson-Stevenson-Fontaine syndrome 'Patterson-Stevenson-Fontaine syndrome' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Patterson-Stevenson-Fontaine syndrome' SubClassOf 'Acrofacial dysostosis' 'Patterson-Stevenson-Fontaine syndrome' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Patterson-Stevenson-Fontaine syndrome' SubClassOf 'Acrofacial dysostosis' http://www.orpha.net/ORDO/Orphanet_2438 Hand-foot-genital syndrome 'Hand-foot-genital syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Hand-foot-genital syndrome' SubClassOf 'Syndrome with brachydactyly' 'Hand-foot-genital syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Hand-foot-genital syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015846 'Hand-foot-genital syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 'Hand-foot-genital syndrome' SubClassOf 'Syndrome with brachydactyly' http://www.orpha.net/ORDO/Orphanet_2437 Split hand - urinary anomalies - spina bifida 'Split hand - urinary anomalies - spina bifida' SubClassOf 'Syndromic urogenital tract malformation' 'Split hand - urinary anomalies - spina bifida' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Split hand - urinary anomalies - spina bifida' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Split hand - urinary anomalies - spina bifida' SubClassOf 'Syndromic urogenital tract malformation' 'Split hand - urinary anomalies - spina bifida' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Split hand - urinary anomalies - spina bifida' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 http://www.orpha.net/ORDO/Orphanet_1106 Microphthalmia with limb anomalies 'Microphthalmia with limb anomalies' SubClassOf 'Syndromic developmental defect of the eye' 'Microphthalmia with limb anomalies' SubClassOf 'Syndromic developmental defect of the eye' 'Microphthalmia with limb anomalies' SubClassOf 'autosomal recessive disease' 'Microphthalmia with limb anomalies' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007 http://www.orpha.net/ORDO/Orphanet_2435 Hypo- and hypermelanotic cutaneous macules - retarded growth - intellectual disability 'Hypo- and hypermelanotic cutaneous macules - retarded growth - intellectual disability' SubClassOf 'Genetic pigmentation anomaly of the skin' 'Hypo- and hypermelanotic cutaneous macules - retarded growth - intellectual disability' SubClassOf 'Genetic pigmentation anomaly of the skin' http://purl.obolibrary.org/obo/CHEBI_33229 vitamin 'vitamin' SubClassOf 'inheres_in' some 'chemical entity' http://www.orpha.net/ORDO/Orphanet_1104 Anophthalmia plus syndrome 'Anophthalmia plus syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Anophthalmia plus syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_1101 Anophthalmia - megalocornea - cardiopathy - skeletal anomalies 'Anophthalmia - megalocornea - cardiopathy - skeletal anomalies' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Anophthalmia - megalocornea - cardiopathy - skeletal anomalies' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_2432 Macrosomia - microphthalmia - cleft palate 'Macrosomia - microphthalmia - cleft palate' SubClassOf 'Orofacial clefting syndrome' 'Macrosomia - microphthalmia - cleft palate' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Macrosomia - microphthalmia - cleft palate' SubClassOf 'Orofacial clefting syndrome' 'Macrosomia - microphthalmia - cleft palate' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Macrosomia - microphthalmia - cleft palate' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 http://www.orpha.net/ORDO/Orphanet_261272 17q12 microduplication syndrome '17q12 microduplication syndrome' SubClassOf 'Partial duplication of the long arm of chromosome 17' '17q12 microduplication syndrome' SubClassOf 'Partial duplication of the long arm of chromosome 17' '17q12 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000762 http://www.orpha.net/ORDO/Orphanet_2429 Macrocephaly - spastic paraplegia - dysmorphism 'Macrocephaly - spastic paraplegia - dysmorphism' SubClassOf 'Pure or complex autosomal recessive spastic paraplegia' 'Macrocephaly - spastic paraplegia - dysmorphism' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Macrocephaly - spastic paraplegia - dysmorphism' SubClassOf 'Pure or complex autosomal recessive spastic paraplegia' 'Macrocephaly - spastic paraplegia - dysmorphism' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Macrocephaly - spastic paraplegia - dysmorphism' SubClassOf 'Complex hereditary spastic paraplegia' 'Macrocephaly - spastic paraplegia - dysmorphism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Macrocephaly - spastic paraplegia - dysmorphism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 http://purl.obolibrary.org/obo/CHEBI_22584 antimycin A 'antimycin A' SubClassOf 'has_role' some 'antimicrobial agent' http://purl.obolibrary.org/obo/CHEBI_22586 antioxidant 'antioxidant' SubClassOf 'inheres_in' some 'chemical entity' http://www.orpha.net/ORDO/Orphanet_248296 Constitutional deficiency anemia 'Constitutional deficiency anemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003847 'Constitutional deficiency anemia' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Constitutional deficiency anemia' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0001639 and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) 'Constitutional deficiency anemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001639 http://www.orpha.net/ORDO/Orphanet_1110 Aortic arch anomaly - peculiar facies - intellectual disability 'Aortic arch anomaly - peculiar facies - intellectual disability' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Aortic arch anomaly - peculiar facies - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Aortic arch anomaly - peculiar facies - intellectual disability' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Aortic arch anomaly - peculiar facies - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 http://www.orpha.net/ORDO/Orphanet_2442 X-linked lymphoproliferative disease 'X-linked lymphoproliferative disease' SubClassOf 'Primary hemophagocytic lymphohistiocytosis' 'X-linked lymphoproliferative disease' SubClassOf 'Lymphoproliferative syndrome' 'X-linked lymphoproliferative disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021094 'X-linked lymphoproliferative disease' SubClassOf 'Primary hemophagocytic lymphohistiocytosis' 'X-linked lymphoproliferative disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000425 'X-linked lymphoproliferative disease' SubClassOf 'Lymphoproliferative syndrome' http://www.orpha.net/ORDO/Orphanet_2440 Split hand-split foot malformation 'Split hand-split foot malformation' SubClassOf 'Split hand or/and split foot malformation' 'Split hand-split foot malformation' SubClassOf 'Split hand or/and split foot malformation' http://purl.obolibrary.org/obo/HP_0100537 Fasciitis 'Fasciitis' EquivalentTo 'has part' some ('having extra processual parts' and ('inheres_in' some 'connective tissue') and ('towards' some 'inflammation (MPATH)')) http://www.orpha.net/ORDO/Orphanet_1118 Fibular aplasia - ectrodactyly 'Fibular aplasia - ectrodactyly' SubClassOf 'Dysostosis with combined reduction defects of upper and lower limbs' 'Fibular aplasia - ectrodactyly' SubClassOf 'Dysostosis with combined reduction defects of upper and lower limbs' http://www.orpha.net/ORDO/Orphanet_1116 Aplasia cutis congenita - intestinal lymphangiectasia 'Aplasia cutis congenita - intestinal lymphangiectasia' SubClassOf 'Syndromic lymphedema' 'Aplasia cutis congenita - intestinal lymphangiectasia' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Aplasia cutis congenita - intestinal lymphangiectasia' SubClassOf 'intestinal disease' 'Aplasia cutis congenita - intestinal lymphangiectasia' SubClassOf 'Syndromic lymphedema' 'Aplasia cutis congenita - intestinal lymphangiectasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018722 'Aplasia cutis congenita - intestinal lymphangiectasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019294 'Aplasia cutis congenita - intestinal lymphangiectasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0009332 'Aplasia cutis congenita - intestinal lymphangiectasia' SubClassOf 'Malformation syndrome with skin/mucosae involvement' http://www.orpha.net/ORDO/Orphanet_1117 Aplasia cutis - myopia 'Aplasia cutis - myopia' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Aplasia cutis - myopia' SubClassOf 'Syndromic myopia' 'Aplasia cutis - myopia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Aplasia cutis - myopia' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Aplasia cutis - myopia' SubClassOf 'Syndromic myopia' 'Aplasia cutis - myopia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019294 http://www.orpha.net/ORDO/Orphanet_1114 Circumscribed cutaneous aplasia of the vertex 'Circumscribed cutaneous aplasia of the vertex' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 http://www.orpha.net/ORDO/Orphanet_1115 Recessive aplasia cutis congenita of limbs 'Recessive aplasia cutis congenita of limbs' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019294 http://www.orpha.net/ORDO/Orphanet_2445 Conotruncal heart malformations 'Conotruncal heart malformations' SubClassOf 'congenital heart malformation' 'Conotruncal heart malformations' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020285 http://www.orpha.net/ORDO/Orphanet_1112 Aphalangy - hemivertebrae - urogenital-intestinal dysgenesis 'Aphalangy - hemivertebrae - urogenital-intestinal dysgenesis' SubClassOf 'Genetic syndrome with limb reduction defects' 'Aphalangy - hemivertebrae - urogenital-intestinal dysgenesis' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' 'Aphalangy - hemivertebrae - urogenital-intestinal dysgenesis' SubClassOf 'Genetic syndrome with limb reduction defects' http://www.orpha.net/ORDO/Orphanet_2443 Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' SubClassOf 'Mitochondrial oxidative phosphorylation disorder' 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' SubClassOf 'Mitochondrial oxidative phosphorylation disorder' http://www.orpha.net/ORDO/Orphanet_1113 Aphalangy - syndactyly - microcephaly 'Aphalangy - syndactyly - microcephaly' SubClassOf 'Genetic syndrome with limb reduction defects' 'Aphalangy - syndactyly - microcephaly' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Aphalangy - syndactyly - microcephaly' SubClassOf 'Genetic syndrome with limb reduction defects' 'Aphalangy - syndactyly - microcephaly' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' http://purl.obolibrary.org/obo/CHEBI_21264 L-cysteine glutathione disulfide 'L-cysteine glutathione disulfide' SubClassOf 'chemical entity' 'L-cysteine glutathione disulfide' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_22595 arabinonate 'arabinonate' SubClassOf 'chemical entity' 'arabinonate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/HP_0100543 cognitive impairment 'cognitive impairment' EquivalentTo 'has part' some ('quality' and ('has component' some 'abnormal') and ('inheres in part of' some 'cognition')) http://www.orpha.net/ORDO/Orphanet_261265 17q12 microdeletion syndrome '17q12 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 17' '17q12 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000761 '17q12 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 17' http://purl.obolibrary.org/obo/CHEBI_46548 zardaverine 'zardaverine' SubClassOf 'has_role' some 'drug role' http://www.orpha.net/ORDO/Orphanet_1121 Radial deficiency - tibial hypoplasia 'Radial deficiency - tibial hypoplasia' SubClassOf 'Dysostosis with combined reduction defects of upper and lower limbs' 'Radial deficiency - tibial hypoplasia' SubClassOf 'Dysostosis with combined reduction defects of upper and lower limbs' http://purl.obolibrary.org/obo/CHEBI_23888 drug 'drug' EquivalentTo 'has_role' some 'drug role' http://www.orpha.net/ORDO/Orphanet_1122 Ulnar hypoplasia - split foot 'Ulnar hypoplasia - split foot' SubClassOf 'Dysostosis with combined reduction defects of upper and lower limbs' 'Ulnar hypoplasia - split foot' SubClassOf 'Dysostosis with combined reduction defects of upper and lower limbs' http://www.orpha.net/ORDO/Orphanet_205 Crigler-Najjar syndrome 'Crigler-Najjar syndrome' SubClassOf 'Disorder of bilirubin metabolism and excretion' 'Crigler-Najjar syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002408 'Crigler-Najjar syndrome' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Crigler-Najjar syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 http://www.orpha.net/ORDO/Orphanet_2451 Mucocutaneous venous malformations 'Mucocutaneous venous malformations' SubClassOf 'Genetic vascular anomaly' 'Mucocutaneous venous malformations' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018730 'Mucocutaneous venous malformations' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 http://www.orpha.net/ORDO/Orphanet_1120 Lung agenesis - heart defect - thumb anomalies 'Lung agenesis - heart defect - thumb anomalies' SubClassOf 'Genetic respiratory malformation' 'Lung agenesis - heart defect - thumb anomalies' SubClassOf 'Genetic respiratory malformation' 'Lung agenesis - heart defect - thumb anomalies' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015222 http://www.orpha.net/ORDO/Orphanet_202 Crandall syndrome 'Crandall syndrome' SubClassOf 'Syndromic hair shaft abnormality' 'Crandall syndrome' SubClassOf 'Syndromic hair shaft abnormality' http://www.orpha.net/ORDO/Orphanet_201 Cowden syndrome 'Cowden syndrome' SubClassOf 'PTEN hamartoma tumor syndrome' 'Cowden syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015185 'Cowden syndrome' SubClassOf 'PTEN hamartoma tumor syndrome' 'Cowden syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 'Cowden syndrome' SubClassOf 'disease has feature' some 'Genetic digestive tract tumor' http://purl.obolibrary.org/obo/HP_0100508 abnormality of vitamin metabolism 'abnormality of vitamin metabolism' EquivalentTo 'has part' some ('quality' and ('inheres_in' some 'vitamin metabolic process') and ('has component' some 'abnormal')) http://www.orpha.net/ORDO/Orphanet_1129 Arachnodactyly - abnormal ossification - intellectual disability 'Arachnodactyly - abnormal ossification - intellectual disability' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Arachnodactyly - abnormal ossification - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Arachnodactyly - abnormal ossification - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Arachnodactyly - abnormal ossification - intellectual disability' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_1125 Ocular motor apraxia, Cogan type 'Ocular motor apraxia, Cogan type' SubClassOf 'Oculomotor apraxia or related oculomotor disease' 'Ocular motor apraxia, Cogan type' SubClassOf 'Oculomotor apraxia or related oculomotor disease' http://www.orpha.net/ORDO/Orphanet_2457 Mandibuloacral dysplasia 'Mandibuloacral dysplasia' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Mandibuloacral dysplasia' SubClassOf 'Primary osteolysis' 'Mandibuloacral dysplasia' SubClassOf 'Primary osteolysis' 'Mandibuloacral dysplasia' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Mandibuloacral dysplasia' SubClassOf 'Developmental anomaly of metabolic origin' 'Mandibuloacral dysplasia' SubClassOf 'Genetic lipodystrophy' 'Mandibuloacral dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 'Mandibuloacral dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015333 http://www.orpha.net/ORDO/Orphanet_1126 Aprosencephaly cerebellar dysgenesis 'Aprosencephaly cerebellar dysgenesis' SubClassOf 'Midline cerebral malformation' 'Aprosencephaly cerebellar dysgenesis' SubClassOf 'Midline cerebral malformation' http://www.orpha.net/ORDO/Orphanet_1123 Caudal appendage - deafness 'Caudal appendage - deafness' SubClassOf 'Syndromic genetic deafness' 'Caudal appendage - deafness' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Caudal appendage - deafness' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Caudal appendage - deafness' SubClassOf 'Syndromic genetic deafness' 'Caudal appendage - deafness' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_2454 Familial intestinal malrotation - facial anomalies 'Familial intestinal malrotation - facial anomalies' SubClassOf 'Syndromic intestinal malformation' 'Familial intestinal malrotation - facial anomalies' SubClassOf 'Syndromic intestinal malformation' 'Familial intestinal malrotation - facial anomalies' SubClassOf http://purl.obolibrary.org/obo/MONDO_0008666 http://www.orpha.net/ORDO/Orphanet_261250 16q24.3 microdeletion syndrome '16q24.3 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 16' '16q24.3 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 16' http://www.orpha.net/ORDO/Orphanet_261257 Distal 17p13.3 microdeletion syndrome 'Distal 17p13.3 microdeletion syndrome' SubClassOf 'Partial monosomy of the short arm of chromosome 17' 'Distal 17p13.3 microdeletion syndrome' SubClassOf 'Partial monosomy of the short arm of chromosome 17' http://www.orpha.net/ORDO/Orphanet_2464 Marfanoid syndrome, De Silva type 'Marfanoid syndrome, De Silva type' SubClassOf 'Syndromic intestinal malformation' 'Marfanoid syndrome, De Silva type' SubClassOf 'Syndromic intestinal malformation' http://www.orpha.net/ORDO/Orphanet_1133 AREDYLD syndrome 'AREDYLD syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'AREDYLD syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'AREDYLD syndrome' SubClassOf 'Developmental anomaly of metabolic origin' 'AREDYLD syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'AREDYLD syndrome' SubClassOf 'Inborn errors of metabolism' 'AREDYLD syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'AREDYLD syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015888 http://www.orpha.net/ORDO/Orphanet_216 Neuronal ceroid lipofuscinosis 'Neuronal ceroid lipofuscinosis' SubClassOf 'Neurometabolic disease' 'Neuronal ceroid lipofuscinosis' SubClassOf 'Unclassified primitive or secondary maculopathy' 'Neuronal ceroid lipofuscinosis' SubClassOf 'Genetic neurodegenerative disease' 'Neuronal ceroid lipofuscinosis' SubClassOf 'Lysosomal disease' 'Neuronal ceroid lipofuscinosis' SubClassOf 'Lipid storage disease' 'Neuronal ceroid lipofuscinosis' SubClassOf 'Unclassified primitive or secondary maculopathy' 'Neuronal ceroid lipofuscinosis' SubClassOf 'Neurometabolic disease' 'Neuronal ceroid lipofuscinosis' SubClassOf 'Genetic neurodegenerative disease' 'Neuronal ceroid lipofuscinosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004884 'Neuronal ceroid lipofuscinosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016397 http://www.orpha.net/ORDO/Orphanet_2463 Marfanoid habitus - intellectual disability, autosomal recessive 'Marfanoid habitus - intellectual disability, autosomal recessive' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Marfanoid habitus - intellectual disability, autosomal recessive' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Marfanoid habitus - intellectual disability, autosomal recessive' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Marfanoid habitus - intellectual disability, autosomal recessive' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_1130 Arachnodactyly - intellectual disability - dysmorphism 'Arachnodactyly - intellectual disability - dysmorphism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007 http://www.orpha.net/ORDO/Orphanet_215 Congenital stationary night blindness 'Congenital stationary night blindness' SubClassOf 'Unclassified familial retinal dystrophy' 'Congenital stationary night blindness' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004587 'Congenital stationary night blindness' SubClassOf 'Unclassified familial retinal dystrophy' http://www.orpha.net/ORDO/Orphanet_2462 Shprintzen-Goldberg syndrome 'Shprintzen-Goldberg syndrome' SubClassOf 'Syndromic craniosynostosis' 'Shprintzen-Goldberg syndrome' SubClassOf 'Marfan and Marfan-related disorder' 'Shprintzen-Goldberg syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Shprintzen-Goldberg syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Shprintzen-Goldberg syndrome' SubClassOf 'Syndromic craniosynostosis' 'Shprintzen-Goldberg syndrome' SubClassOf 'Marfan and Marfan-related disorder' 'Shprintzen-Goldberg syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Shprintzen-Goldberg syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_1131 X-linked mandibulofacial dysostosis 'X-linked mandibulofacial dysostosis' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked mandibulofacial dysostosis' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'X-linked mandibulofacial dysostosis' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'X-linked mandibulofacial dysostosis' SubClassOf 'Acrofacial dysostosis' 'X-linked mandibulofacial dysostosis' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked mandibulofacial dysostosis' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'X-linked mandibulofacial dysostosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 'X-linked mandibulofacial dysostosis' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'X-linked mandibulofacial dysostosis' SubClassOf 'Mandibulofacial dysostosis' 'X-linked mandibulofacial dysostosis' SubClassOf 'Acrofacial dysostosis' 'X-linked mandibulofacial dysostosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 http://www.orpha.net/ORDO/Orphanet_214 Cystinuria 'Cystinuria' SubClassOf 'Genetic renal tubular disease' 'Cystinuria' SubClassOf 'Disorder of amino acid absorption and transport' 'Cystinuria' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019744 'Cystinuria' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Cystinuria' SubClassOf 'Genetic renal tubular disease' 'Cystinuria' SubClassOf 'Disorder of amino acid absorption and transport' 'Cystinuria' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004736 http://www.orpha.net/ORDO/Orphanet_2461 Marden-Walker syndrome 'Marden-Walker syndrome' SubClassOf 'Syndrome or malformation associated with head and neck malformations' 'Marden-Walker syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Marden-Walker syndrome' SubClassOf 'Arthrogryposis multiplex congenita' 'Marden-Walker syndrome' SubClassOf 'Syndrome or malformation associated with head and neck malformations' 'Marden-Walker syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Marden-Walker syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Marden-Walker syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Marden-Walker syndrome' SubClassOf 'Arthrogryposis multiplex congenita' 'Marden-Walker syndrome' SubClassOf 'ciliopathy' 'Marden-Walker syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 http://www.orpha.net/ORDO/Orphanet_213 Cystinosis 'Cystinosis' SubClassOf 'Disorder of lysosomal amino acid transport' 'Cystinosis' SubClassOf 'Disorder of lysosomal amino acid transport' http://www.orpha.net/ORDO/Orphanet_2460 Van den Ende-Gupta syndrome 'Van den Ende-Gupta syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Van den Ende-Gupta syndrome' SubClassOf 'Syndrome or malformation associated with head and neck malformations' 'Van den Ende-Gupta syndrome' SubClassOf 'Arthrogryposis multiplex congenita' 'Van den Ende-Gupta syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Van den Ende-Gupta syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 'Van den Ende-Gupta syndrome' SubClassOf 'Syndrome or malformation associated with head and neck malformations' 'Van den Ende-Gupta syndrome' SubClassOf 'Arthrogryposis multiplex congenita' http://www.orpha.net/ORDO/Orphanet_212 Cystathioninuria 'Cystathioninuria' SubClassOf 'Disorder of methionine cycle and sulfur amino acid metabolism' 'Cystathioninuria' SubClassOf 'Disorder of methionine cycle and sulfur amino acid metabolism' http://www.orpha.net/ORDO/Orphanet_211 Familial cylindromatosis 'Familial cylindromatosis' SubClassOf 'Brooke-Spiegler syndrome' 'Familial cylindromatosis' SubClassOf 'Brooke-Spiegler syndrome' http://www.orpha.net/ORDO/Orphanet_1136 Arnold-Chiari malformation type II 'Arnold-Chiari malformation type II' SubClassOf 'Spina bifida cystica' 'Arnold-Chiari malformation type II' SubClassOf 'Spina bifida cystica' 'Arnold-Chiari malformation type II' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000115 http://www.orpha.net/ORDO/Orphanet_2466 MASA syndrome 'MASA syndrome' SubClassOf 'X-linked complex spastic paraplegia' 'MASA syndrome' SubClassOf 'L1 syndrome' 'MASA syndrome' SubClassOf 'X-linked complex spastic paraplegia' 'MASA syndrome' SubClassOf 'L1 syndrome' http://www.orpha.net/ORDO/Orphanet_1135 Arrhinia - choanal atresia - microphthalmia 'Arrhinia - choanal atresia - microphthalmia' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Arrhinia - choanal atresia - microphthalmia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015503 'Arrhinia - choanal atresia - microphthalmia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018562 'Arrhinia - choanal atresia - microphthalmia' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_261243 16p13.11 microduplication syndrome '16p13.11 microduplication syndrome' SubClassOf 'Partial duplication of the short arm of chromosome 16' '16p13.11 microduplication syndrome' SubClassOf 'Partial duplication of the short arm of chromosome 16' http://www.orpha.net/ORDO/Orphanet_209 Cutis laxa 'Cutis laxa' SubClassOf 'Congenital entropion' 'Cutis laxa' SubClassOf 'Malformation syndrome with connective tissue involvement' 'Cutis laxa' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Cutis laxa' SubClassOf 'Genetic dermis elastic tissue disorder' 'Cutis laxa' SubClassOf 'Congenital entropion' 'Cutis laxa' SubClassOf 'Malformation syndrome with connective tissue involvement' 'Cutis laxa' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Cutis laxa' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015216 'Cutis laxa' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Cutis laxa' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 'Cutis laxa' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015880 'Cutis laxa' SubClassOf 'Genetic dermis elastic tissue disorder' http://purl.obolibrary.org/obo/HP_0001082 Cholecystitis 'Cholecystitis' SubClassOf 'Abnormality of the digestive system' 'Cholecystitis' SubClassOf 'Abnormality of the digestive system' http://purl.obolibrary.org/obo/HP_0025031 Abnormality of the digestive system 'Abnormality of the digestive system' EquivalentTo 'has part' some ('quality' and ('inheres_in' some 'digestive system') and ('has component' some 'abnormal')) http://www.orpha.net/ORDO/Orphanet_207 Crouzon disease 'Crouzon disease' SubClassOf 'Syndromic craniosynostosis' 'Crouzon disease' SubClassOf 'Craniostenosis associated with a strabismus' 'Crouzon disease' SubClassOf 'Syndromic craniosynostosis' 'Crouzon disease' SubClassOf 'Rare genetic neurological disorder' 'Crouzon disease' SubClassOf 'Craniostenosis associated with a strabismus' 'Crouzon disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 http://www.orpha.net/ORDO/Orphanet_309450 Disorder of O-xylosylglycan synthesis 'Disorder of O-xylosylglycan synthesis' SubClassOf 'Disorder of protein O-glycosylation' 'Disorder of O-xylosylglycan synthesis' SubClassOf 'Disorder of protein O-glycosylation' http://www.orpha.net/ORDO/Orphanet_370079 Proximal 16p11.2 microduplication syndrome 'Proximal 16p11.2 microduplication syndrome' SubClassOf 'Partial duplication of the short arm of chromosome 16' 'Proximal 16p11.2 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Proximal 16p11.2 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000762 'Proximal 16p11.2 microduplication syndrome' SubClassOf 'Partial duplication of the short arm of chromosome 16' 'Proximal 16p11.2 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 http://www.orpha.net/ORDO/Orphanet_309458 Disorder of O-N-acetylgalactosaminylglycan synthesis 'Disorder of O-N-acetylgalactosaminylglycan synthesis' SubClassOf 'Disorder of protein O-glycosylation' 'Disorder of O-N-acetylgalactosaminylglycan synthesis' SubClassOf 'Disorder of protein O-glycosylation' http://purl.obolibrary.org/obo/UBERON_0002728 entorhinal area 'entorhinal area' SubClassOf 'part_of' some 'olfactory lobe' 'entorhinal area' SubClassOf 'part_of' some 'temporal lobe' http://www.orpha.net/ORDO/Orphanet_309463 Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis 'Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis' SubClassOf 'Disorder of protein O-glycosylation' 'Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis' SubClassOf 'Disorder of protein O-glycosylation' http://www.orpha.net/ORDO/Orphanet_2405 Thickened earlobes - conductive deafness 'Thickened earlobes - conductive deafness' SubClassOf 'Syndromic genetic deafness' 'Thickened earlobes - conductive deafness' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_309469 Disorder of O-mannosylglycan synthesis 'Disorder of O-mannosylglycan synthesis' SubClassOf 'Disorder of protein O-glycosylation' 'Disorder of O-mannosylglycan synthesis' SubClassOf 'Disorder of protein O-glycosylation' http://www.orpha.net/ORDO/Orphanet_2416 obsolete_Congenital primary lymphedema 'obsolete_Congenital primary lymphedema' SubClassOf 'obsolete class' 'obsolete_Congenital primary lymphedema' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2414 Congenital pulmonary lymphangiectasia 'Congenital pulmonary lymphangiectasia' SubClassOf 'Non-syndromic respiratory or mediastinal malformation' 'Congenital pulmonary lymphangiectasia' SubClassOf 'Non-syndromic respiratory or mediastinal malformation' 'Congenital pulmonary lymphangiectasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018722 'Congenital pulmonary lymphangiectasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017017 'Congenital pulmonary lymphangiectasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015222 'Congenital pulmonary lymphangiectasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0009332 'Congenital pulmonary lymphangiectasia' SubClassOf 'Genetic respiratory malformation' 'Congenital pulmonary lymphangiectasia' SubClassOf 'lymphangiectasis' http://www.orpha.net/ORDO/Orphanet_2412 Dislocation of the hip - dysmorphism 'Dislocation of the hip - dysmorphism' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Dislocation of the hip - dysmorphism' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_2410 Hypergonadotropic hypogonadism - cataract syndrome 'Hypergonadotropic hypogonadism - cataract syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Hypergonadotropic hypogonadism - cataract syndrome' SubClassOf 'Syndromic cataract' 'Hypergonadotropic hypogonadism - cataract syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Hypergonadotropic hypogonadism - cataract syndrome' SubClassOf 'Syndromic cataract' 'Hypergonadotropic hypogonadism - cataract syndrome' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_370097 Oculocutaneous albinism type 6 'Oculocutaneous albinism type 6' SubClassOf 'Oculocutaneous albinism' 'Oculocutaneous albinism type 6' SubClassOf 'Oculocutaneous albinism' http://www.orpha.net/ORDO/Orphanet_2409 Lowry-MacLean syndrome 'Lowry-MacLean syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Lowry-MacLean syndrome' SubClassOf 'Syndromic craniosynostosis' 'Lowry-MacLean syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Lowry-MacLean syndrome' SubClassOf 'Rare disease with glaucoma as a major feature' 'Lowry-MacLean syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Lowry-MacLean syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Lowry-MacLean syndrome' SubClassOf 'Syndromic craniosynostosis' 'Lowry-MacLean syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Lowry-MacLean syndrome' SubClassOf 'Rare disease with glaucoma as a major feature' http://www.orpha.net/ORDO/Orphanet_2408 Lowe-Kohn-Cohen syndrome 'Lowe-Kohn-Cohen syndrome' SubClassOf 'Syndromic anorectal malformation' 'Lowe-Kohn-Cohen syndrome' SubClassOf 'Syndromic genetic deafness' 'Lowe-Kohn-Cohen syndrome' SubClassOf 'Syndromic anorectal malformation' 'Lowe-Kohn-Cohen syndrome' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_2407 LOC syndrome 'LOC syndrome' SubClassOf 'Genetic respiratory malformation' 'LOC syndrome' SubClassOf 'Junctional epidermolysis bullosa' 'LOC syndrome' SubClassOf 'Hereditary epidermolysis bullosa associated with ocular features' 'LOC syndrome' SubClassOf 'Genetic respiratory malformation' 'LOC syndrome' SubClassOf 'Junctional epidermolysis bullosa' 'LOC syndrome' SubClassOf 'Rare genetic neurological disorder' 'LOC syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'LOC syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015222 'LOC syndrome' SubClassOf 'Hereditary epidermolysis bullosa associated with ocular features' http://www.orpha.net/ORDO/Orphanet_370091 Oculocutaneous albinism type 5 'Oculocutaneous albinism type 5' SubClassOf 'Oculocutaneous albinism' 'Oculocutaneous albinism type 5' SubClassOf 'Oculocutaneous albinism' http://purl.obolibrary.org/obo/UBERON_0001401 longissimus thoracic muscle 'longissimus thoracic muscle' SubClassOf 'musculature' 'longissimus thoracic muscle' SubClassOf 'musculature' 'longissimus thoracic muscle' SubClassOf http://purl.obolibrary.org/obo/UBERON_0000392 http://purl.obolibrary.org/obo/CHEBI_47804 dibenzazepines 'dibenzazepines' SubClassOf 'has_role' some 'antipsychotic drug' http://purl.obolibrary.org/obo/UBERON_0001415 skin of pelvis 'skin of pelvis' SubClassOf 'animal component' 'skin of pelvis' SubClassOf 'part_of' some 'pelvis' 'skin of pelvis' SubClassOf http://purl.obolibrary.org/obo/UBERON_0003836 http://purl.obolibrary.org/obo/UBERON_0001416 abdominal skin 'abdominal skin' SubClassOf 'animal component' 'abdominal skin' SubClassOf http://purl.obolibrary.org/obo/UBERON_0003836 'abdominal skin' SubClassOf 'part_of' some 'abdomen' http://www.orpha.net/ORDO/Orphanet_2427 Macrocephaly - short stature - paraplegia 'Macrocephaly - short stature - paraplegia' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Macrocephaly - short stature - paraplegia' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Macrocephaly - short stature - paraplegia' SubClassOf 'Genetic syndrome with a Dandy-Walker malformation as major feature' http://www.orpha.net/ORDO/Orphanet_189466 Familial isolated hypoparathyroidism due to impaired PTH secretion 'Familial isolated hypoparathyroidism due to impaired PTH secretion' SubClassOf 'Familial isolated hypoparathyroidism' 'Familial isolated hypoparathyroidism due to impaired PTH secretion' SubClassOf http://purl.obolibrary.org/obo/MONDO_0007796 http://purl.obolibrary.org/obo/CHEBI_35842 antirheumatic drug 'antirheumatic drug' SubClassOf 'has_role' some 'drug role' http://www.orpha.net/ORDO/Orphanet_35612 Nanophthalmia 'Nanophthalmia' SubClassOf 'Isolated anophthalmia - microphthalmia' 'Nanophthalmia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000062 'Nanophthalmia' SubClassOf 'Isolated anophthalmia - microphthalmia' http://www.orpha.net/ORDO/Orphanet_370088 Acute infantile liver failure-multisystemic involvement syndrome 'Acute infantile liver failure-multisystemic involvement syndrome' SubClassOf 'Genetic parenchymatous liver disease' 'Acute infantile liver failure-multisystemic involvement syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000023 http://www.orpha.net/ORDO/Orphanet_309447 Disorder of protein O-glycosylation 'Disorder of protein O-glycosylation' SubClassOf 'Congenital disorder of glycosylation' 'Disorder of protein O-glycosylation' SubClassOf 'Congenital disorder of glycosylation' 'Disorder of protein O-glycosylation' SubClassOf 'realized_in' some ('disease course' and ('has part' some 'glycosylation')) 'Disorder of protein O-glycosylation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0045010 http://www.orpha.net/ORDO/Orphanet_140162 Inherited cancer-predisposing syndrome 'Inherited cancer-predisposing syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021058 'Inherited cancer-predisposing syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003847 'Inherited cancer-predisposing syndrome' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0021058 and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) http://www.orpha.net/ORDO/Orphanet_189439 Primary pigmented nodular adrenocortical disease 'Primary pigmented nodular adrenocortical disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020529 'Primary pigmented nodular adrenocortical disease' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://purl.obolibrary.org/obo/CHEBI_35804 citrate(1-) 'citrate(1-)' SubClassOf 'chemical entity' 'citrate(1-)' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_35807 N-nitrosodimethylamine 'N-nitrosodimethylamine' SubClassOf 'has_role' some 'mutagen' http://purl.obolibrary.org/obo/CHEBI_35808 citrate(2-) 'citrate(2-)' SubClassOf 'chemical entity' 'citrate(2-)' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_33001 Lymphedema - distichiasis 'Lymphedema - distichiasis' SubClassOf 'Secondary ectropion' 'Lymphedema - distichiasis' SubClassOf 'Syndromic lymphedema' 'Lymphedema - distichiasis' SubClassOf 'Eyebrow/eyelashes distichiasis' 'Lymphedema - distichiasis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018722 'Lymphedema - distichiasis' SubClassOf 'Secondary ectropion' 'Lymphedema - distichiasis' SubClassOf 'Syndromic lymphedema' 'Lymphedema - distichiasis' SubClassOf 'Milroy disease' 'Lymphedema - distichiasis' SubClassOf 'Eyebrow/eyelashes distichiasis' http://www.orpha.net/ORDO/Orphanet_35664 ALDH18A1-related De Barsy syndrome 'ALDH18A1-related De Barsy syndrome' SubClassOf 'De Barsy syndrome' 'ALDH18A1-related De Barsy syndrome' SubClassOf 'De Barsy syndrome' http://purl.obolibrary.org/obo/UBERON_0002703 precentral gyrus 'precentral gyrus' SubClassOf 'part_of' some 'frontal cortex' http://www.orpha.net/ORDO/Orphanet_35656 Coenzyme Q10 deficiency 'Coenzyme Q10 deficiency' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' 'Coenzyme Q10 deficiency' SubClassOf 'Neurometabolic disease' 'Coenzyme Q10 deficiency' SubClassOf 'Mitochondrial disease with peripheral neuropathy' 'Coenzyme Q10 deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016402 'Coenzyme Q10 deficiency' SubClassOf 'Neurometabolic disease' 'Coenzyme Q10 deficiency' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' 'Coenzyme Q10 deficiency' SubClassOf 'Mitochondrial disease with peripheral neuropathy' http://purl.obolibrary.org/obo/UBERON_0003889 fallopian tube 'fallopian tube' SubClassOf 'develops_from' some 'trunk mesenchyme' 'fallopian tube' SubClassOf 'part_of' some 'oviduct' 'fallopian tube' SubClassOf 'part_of' some 'pelvis' http://www.orpha.net/ORDO/Orphanet_370106 Rare disorder with dystonia and other neurologic or systemic manifestation 'Rare disorder with dystonia and other neurologic or systemic manifestation' SubClassOf 'Rare genetic dystonia' 'Rare disorder with dystonia and other neurologic or systemic manifestation' SubClassOf 'Rare genetic dystonia' http://purl.obolibrary.org/obo/CLO_0027182 GM15324 'GM15324' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM15324' SubClassOf 'cultured cell' http://www.orpha.net/ORDO/Orphanet_141333 Biemond syndrome type 2 'Biemond syndrome type 2' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Biemond syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Biemond syndrome type 2' SubClassOf 'Genetic malformation syndrome with short stature' 'Biemond syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Biemond syndrome type 2' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_371436 Genetic neurovascular malformation 'Genetic neurovascular malformation' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Genetic neurovascular malformation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020676 'Genetic neurovascular malformation' SubClassOf 'disease has feature' some http://purl.obolibrary.org/obo/MONDO_0100035 http://www.orpha.net/ORDO/Orphanet_371439 Genetic cerebrovascular dementia 'Genetic cerebrovascular dementia' SubClassOf 'Genetic central nervous system and retinal vascular disease' 'Genetic cerebrovascular dementia' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Genetic cerebrovascular dementia' SubClassOf 'has_disease_location' some 'brain blood vessel' http://www.ebi.ac.uk/efo/EFO_0000930 obsolete_ureter 'obsolete_ureter' SubClassOf 'obsolete class' 'obsolete_ureter' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_141330 Orofaciodigital syndrome type 13 'Orofaciodigital syndrome type 13' SubClassOf 'Orofaciodigital syndrome' 'Orofaciodigital syndrome type 13' SubClassOf 'Orofaciodigital syndrome' http://www.orpha.net/ORDO/Orphanet_370109 Ataxia-telangiectasia variant 'Ataxia-telangiectasia variant' SubClassOf 'Persistent combined dystonia' 'Ataxia-telangiectasia variant' SubClassOf 'Persistent combined dystonia' 'Ataxia-telangiectasia variant' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'Ataxia-telangiectasia' http://www.ebi.ac.uk/efo/EFO_0000931 obsolete_urethra 'obsolete_urethra' SubClassOf 'obsolete class' 'obsolete_urethra' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000932 obsolete_bronchus 'obsolete_bronchus' SubClassOf 'obsolete class' 'obsolete_bronchus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000933 obsolete_gill 'obsolete_gill' SubClassOf 'obsolete class' 'obsolete_gill' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000934 obsolete_lung 'obsolete_lung' SubClassOf 'obsolete class' 'obsolete_lung' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000935 obsolete_trachea 'obsolete_trachea' SubClassOf 'obsolete class' 'obsolete_trachea' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000936 obsolete_spiracle 'obsolete_spiracle' SubClassOf 'obsolete class' 'obsolete_spiracle' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_371445 Genetic syndromic esophageal malformation 'Genetic syndromic esophageal malformation' SubClassOf 'Esophageal malformation' 'Genetic syndromic esophageal malformation' EquivalentTo 'Esophageal malformation' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021127) 'Genetic syndromic esophageal malformation' SubClassOf 'Esophageal malformation' 'Genetic syndromic esophageal malformation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 http://www.orpha.net/ORDO/Orphanet_370114 Combined cervical dystonia 'Combined cervical dystonia' SubClassOf 'Persistent combined dystonia' 'Combined cervical dystonia' SubClassOf 'Persistent combined dystonia' http://www.ebi.ac.uk/efo/EFO_0000937 obsolete_diaphragm 'obsolete_diaphragm' SubClassOf 'obsolete class' 'obsolete_diaphragm' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_141327 Orofaciodigital syndrome type 12 'Orofaciodigital syndrome type 12' SubClassOf 'Orofaciodigital syndrome' 'Orofaciodigital syndrome type 12' SubClassOf 'Orofaciodigital syndrome' http://www.ebi.ac.uk/efo/EFO_0000939 obsolete_sensillum 'obsolete_sensillum' SubClassOf 'obsolete class' 'obsolete_sensillum' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/UBERON_0001225 cortex of kidney 'cortex of kidney' SubClassOf 'part_of' some 'kidney' http://purl.obolibrary.org/obo/UBERON_0003881 CA1 field of hippocampus 'CA1 field of hippocampus' SubClassOf 'cerebral cortex' 'CA1 field of hippocampus' SubClassOf 'cerebral cortex' http://purl.obolibrary.org/obo/UBERON_0003883 CA3 field of hippocampus 'CA3 field of hippocampus' SubClassOf 'cerebral cortex' 'CA3 field of hippocampus' SubClassOf 'cerebral cortex' http://www.orpha.net/ORDO/Orphanet_371428 Multicentric osteolysis-nodulosis-arthropathy spectrum 'Multicentric osteolysis-nodulosis-arthropathy spectrum' SubClassOf 'Primary osteolysis' 'Multicentric osteolysis-nodulosis-arthropathy spectrum' SubClassOf 'Primary osteolysis' http://www.ebi.ac.uk/efo/EFO_0000920 obsolete_tectum 'obsolete_tectum' SubClassOf 'obsolete class' 'obsolete_tectum' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000921 obsolete_tegmentum 'obsolete_tegmentum' SubClassOf 'obsolete class' 'obsolete_tegmentum' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000922 obsolete_substantia nigra 'obsolete_substantia nigra' SubClassOf 'obsolete class' 'obsolete_substantia nigra' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000923 obsolete_hindbrain 'obsolete_hindbrain' SubClassOf 'obsolete class' 'obsolete_hindbrain' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000924 obsolete_medulla oblongata 'obsolete_medulla oblongata' SubClassOf 'obsolete class' 'obsolete_medulla oblongata' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000925 obsolete_mushroom body 'obsolete_mushroom body' SubClassOf 'obsolete class' 'obsolete_mushroom body' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000926 obsolete_pars intercerebralis 'obsolete_pars intercerebralis' SubClassOf 'obsolete class' 'obsolete_pars intercerebralis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000927 obsolete_pronephros 'obsolete_pronephros' SubClassOf 'obsolete class' 'obsolete_pronephros' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000928 obsolete_mesonephros 'obsolete_mesonephros' SubClassOf 'obsolete class' 'obsolete_mesonephros' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000929 obsolete_kidney 'obsolete_kidney' SubClassOf 'obsolete class' 'obsolete_kidney' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_139027 Malformation syndrome with skin/mucosae involvement 'Malformation syndrome with skin/mucosae involvement' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019755 http://purl.obolibrary.org/obo/UBERON_0001235 adrenal cortex 'adrenal cortex' SubClassOf 'develops_from' some 'trunk mesenchyme' 'adrenal cortex' SubClassOf 'part_of' some 'abdomen' 'adrenal cortex' SubClassOf 'part_of' some 'endocrine system' 'adrenal cortex' SubClassOf 'develops_from' some 'mesoderm' 'adrenal cortex' SubClassOf 'part_of' some 'gland' http://purl.obolibrary.org/obo/UBERON_0001236 adrenal medulla 'adrenal medulla' SubClassOf 'develops_from' some 'ectoderm' 'adrenal medulla' SubClassOf 'develops_from' some 'trunk mesenchyme' 'adrenal medulla' SubClassOf 'develops_from' some 'presumptive neural plate' 'adrenal medulla' SubClassOf 'part_of' some 'endocrine system' 'adrenal medulla' SubClassOf 'part_of' some 'abdomen' 'adrenal medulla' SubClassOf 'develops_from' some 'mesoderm' 'adrenal medulla' SubClassOf 'part_of' some 'gland' http://purl.obolibrary.org/obo/UBERON_0001231 nephron tubule 'nephron tubule' SubClassOf 'part_of' some 'kidney' 'nephron tubule' SubClassOf http://purl.obolibrary.org/obo/UBERON_0009773 'nephron tubule' SubClassOf http://purl.obolibrary.org/obo/UBERON_0004211 http://purl.obolibrary.org/obo/UBERON_0003894 liver primordium 'liver primordium' SubClassOf 'primordium' 'liver primordium' SubClassOf 'embryonic structure' 'liver primordium' SubClassOf 'primordium' 'liver primordium' SubClassOf 'develops_from' some 'digestive system' 'liver primordium' SubClassOf http://purl.obolibrary.org/obo/UBERON_0000485 'liver primordium' SubClassOf 'part_of' some 'endoderm' 'liver primordium' SubClassOf 'part_of' some 'digestive system' 'liver primordium' SubClassOf 'develops_from' some 'endoderm' 'liver primordium' SubClassOf http://purl.obolibrary.org/obo/UBERON_0006598 'liver primordium' SubClassOf http://purl.obolibrary.org/obo/UBERON_0009497 http://www.orpha.net/ORDO/Orphanet_139030 Malformation syndrome with connective tissue involvement 'Malformation syndrome with connective tissue involvement' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019755 http://purl.obolibrary.org/obo/CHEBI_3092 bicuculline 'bicuculline' SubClassOf 'has_role' some 'toxin' http://purl.obolibrary.org/obo/CHEBI_3090 bicalutamide 'bicalutamide' SubClassOf 'has_role' some 'antineoplastic agent' http://www.orpha.net/ORDO/Orphanet_357158 Mandibulofacial dysostosis - macroblepharon - macrostomia 'Mandibulofacial dysostosis - macroblepharon - macrostomia' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Mandibulofacial dysostosis - macroblepharon - macrostomia' SubClassOf 'Mandibulofacial dysostosis' 'Mandibulofacial dysostosis - macroblepharon - macrostomia' SubClassOf 'Dysostosis with predominant craniofacial involvement' 'Mandibulofacial dysostosis - macroblepharon - macrostomia' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Mandibulofacial dysostosis - macroblepharon - macrostomia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 'Mandibulofacial dysostosis - macroblepharon - macrostomia' SubClassOf 'Mandibulofacial dysostosis' 'Mandibulofacial dysostosis - macroblepharon - macrostomia' SubClassOf 'Dysostosis with predominant craniofacial involvement' http://www.orpha.net/ORDO/Orphanet_370127 Medich giant platelet syndrome 'Medich giant platelet syndrome' SubClassOf 'Alpha granule disease' 'Medich giant platelet syndrome' SubClassOf 'Alpha granule disease' http://purl.obolibrary.org/obo/HP_0004936 Venous thrombosis 'Venous thrombosis' SubClassOf 'has part' some ('quality' and ('has component' some 'abnormal') and ('inheres in part of' some 'vein')) http://www.ebi.ac.uk/efo/EFO_0000950 obsolete_median fin skeleton 'obsolete_median fin skeleton' SubClassOf 'obsolete class' 'obsolete_median fin skeleton' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000951 obsolete_paired fin skeleton 'obsolete_paired fin skeleton' SubClassOf 'obsolete class' 'obsolete_paired fin skeleton' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000953 obsolete_dermis 'obsolete_dermis' SubClassOf 'obsolete class' 'obsolete_dermis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_370131 White platelet syndrome 'White platelet syndrome' SubClassOf 'Alpha granule disease' 'White platelet syndrome' SubClassOf 'Alpha granule disease' http://www.ebi.ac.uk/efo/EFO_0000954 obsolete_epidermis 'obsolete_epidermis' SubClassOf 'obsolete class' 'obsolete_epidermis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000955 obsolete_feather 'obsolete_feather' SubClassOf 'obsolete class' 'obsolete_feather' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000956 obsolete_nail 'obsolete_nail' SubClassOf 'obsolete class' 'obsolete_nail' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000958 obsolete_hair 'obsolete_hair' SubClassOf 'obsolete class' 'obsolete_hair' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000959 obsolete_pharyngeal arch 'obsolete_pharyngeal arch' SubClassOf 'obsolete class' 'obsolete_pharyngeal arch' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_139039 Orofacial clefting syndrome 'Orofacial clefting syndrome' SubClassOf 'Syndrome or malformation associated with head and neck malformations' 'Orofacial clefting syndrome' SubClassOf 'Syndrome or malformation associated with head and neck malformations' http://purl.obolibrary.org/obo/UBERON_0001259 mucosa of urinary bladder 'mucosa of urinary bladder' SubClassOf 'urinary bladder' 'mucosa of urinary bladder' SubClassOf 'urinary bladder' 'mucosa of urinary bladder' SubClassOf 'mucosa' http://purl.obolibrary.org/obo/HP_0003614 Trimethylaminuria 'Trimethylaminuria' SubClassOf 'Abnormality of urine homeostasis' 'Trimethylaminuria' SubClassOf 'Abnormality of urine homeostasis' http://www.ebi.ac.uk/efo/EFO_0000940 obsolete_chordotonal organ 'obsolete_chordotonal organ' SubClassOf 'obsolete class' 'obsolete_chordotonal organ' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000941 obsolete_lateral line system 'obsolete_lateral line system' SubClassOf 'obsolete class' 'obsolete_lateral line system' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000942 obsolete_axial skeleton structure 'obsolete_axial skeleton structure' SubClassOf 'obsolete class' 'obsolete_axial skeleton structure' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000943 obsolete_craniofacial skeleton bone 'obsolete_craniofacial skeleton bone' SubClassOf 'obsolete class' 'obsolete_craniofacial skeleton bone' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000944 obsolete_exoskeleton 'obsolete_exoskeleton' SubClassOf 'obsolete class' 'obsolete_exoskeleton' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/UBERON_0002581 postcentral gyrus 'postcentral gyrus' SubClassOf 'part_of' some 'parietal lobe' http://www.ebi.ac.uk/efo/EFO_0000945 obsolete_limb bone 'obsolete_limb bone' SubClassOf 'obsolete class' 'obsolete_limb bone' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000946 obsolete_pectoral girdle 'obsolete_pectoral girdle' SubClassOf 'obsolete class' 'obsolete_pectoral girdle' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000947 obsolete_pelvic girdle 'obsolete_pelvic girdle' SubClassOf 'obsolete class' 'obsolete_pelvic girdle' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000948 obsolete_joint 'obsolete_joint' SubClassOf 'obsolete class' 'obsolete_joint' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000949 cartilage 'cartilage' SubClassOf 'part_of' some 'skeletal system' http://purl.obolibrary.org/obo/UBERON_0001255 urinary bladder 'urinary bladder' SubClassOf 'develops_from' some 'digestive system' 'urinary bladder' SubClassOf 'develops_from' some 'genitourinary system' 'urinary bladder' SubClassOf 'develops_from' some 'anal region' 'urinary bladder' SubClassOf 'part_of' some 'trunk' http://purl.obolibrary.org/obo/UBERON_0003849 mesencephalic neural crest 'mesencephalic neural crest' SubClassOf 'cranial neural crest' 'mesencephalic neural crest' SubClassOf 'cranial neural crest' 'mesencephalic neural crest' SubClassOf http://purl.obolibrary.org/obo/UBERON_0002342 http://www.orpha.net/ORDO/Orphanet_357175 Short ulna - dysmorphism - hypotonia - intellectual disability 'Short ulna - dysmorphism - hypotonia - intellectual disability' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Short ulna - dysmorphism - hypotonia - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Short ulna - dysmorphism - hypotonia - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Short ulna - dysmorphism - hypotonia - intellectual disability' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/UBERON_0002518 otolith organ 'otolith organ' SubClassOf 'develops_from' some 'ectoderm' 'otolith organ' SubClassOf 'develops_from' some 'presumptive neural plate' http://www.ebi.ac.uk/efo/EFO_0009302 amelogenesis imperfecta, type ij 'amelogenesis imperfecta, type ij' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003847 http://www.ebi.ac.uk/efo/EFO_0009303 fructosamine measurement 'fructosamine measurement' SubClassOf 'measurement' 'fructosamine measurement' SubClassOf 'measurement' http://www.ebi.ac.uk/efo/EFO_0009304 percent glycated albumin 'percent glycated albumin' SubClassOf 'glycated albumin measurement' 'percent glycated albumin' SubClassOf 'glycated albumin measurement' http://www.orpha.net/ORDO/Orphanet_308166 Erythrokeratoderma variabilis progressiva 'Erythrokeratoderma variabilis progressiva' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019270 http://www.ebi.ac.uk/efo/EFO_0009309 Div-Seq 'Div-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0000970 obsolete_male reproductive system 'obsolete_male reproductive system' SubClassOf 'obsolete class' 'obsolete_male reproductive system' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000971 obsolete_hermaphrodite gonad 'obsolete_hermaphrodite gonad' SubClassOf 'obsolete class' 'obsolete_hermaphrodite gonad' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0009305 total glycated albumin 'total glycated albumin' SubClassOf 'glycated albumin measurement' 'total glycated albumin' SubClassOf 'glycated albumin measurement' http://www.ebi.ac.uk/efo/EFO_0000972 obsolete_unfertilized egg 'obsolete_unfertilized egg' SubClassOf 'obsolete class' 'obsolete_unfertilized egg' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0009306 atazanavir measurement 'atazanavir measurement' SubClassOf 'measurement' 'atazanavir measurement' SubClassOf 'measurement' http://www.ebi.ac.uk/efo/EFO_0000973 obsolete_animal ovary 'obsolete_animal ovary' SubClassOf 'obsolete class' 'obsolete_animal ovary' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000974 obsolete_oviduct 'obsolete_oviduct' SubClassOf 'obsolete class' 'obsolete_oviduct' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0009308 response to long-chain n-3 PUFA dietary supplementation 'response to long-chain n-3 PUFA dietary supplementation' SubClassOf 'response to stimulus' 'response to long-chain n-3 PUFA dietary supplementation' SubClassOf 'has_input' some 'fatty acid' 'response to long-chain n-3 PUFA dietary supplementation' SubClassOf 'response to stimulus' http://www.ebi.ac.uk/efo/EFO_0000975 obsolete_uterus 'obsolete_uterus' SubClassOf 'obsolete class' 'obsolete_uterus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000976 obsolete_vagina 'obsolete_vagina' SubClassOf 'obsolete class' 'obsolete_vagina' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000977 obsolete_spermathecum 'obsolete_spermathecum' SubClassOf 'obsolete class' 'obsolete_spermathecum' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000978 obsolete_vulva 'obsolete_vulva' SubClassOf 'obsolete class' 'obsolete_vulva' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000979 obsolete_cervix 'obsolete_cervix' SubClassOf 'obsolete class' 'obsolete_cervix' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_213517 Familial ovarian cancer 'Familial ovarian cancer' SubClassOf 'Genetic gynecological tumor' 'Familial ovarian cancer' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0008170 and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) 'Familial ovarian cancer' SubClassOf 'Genetic gynecological tumor' http://purl.obolibrary.org/obo/UBERON_0002524 mediastinal lymph node 'mediastinal lymph node' SubClassOf 'lymph node' 'mediastinal lymph node' SubClassOf 'part_of' some 'trunk' 'mediastinal lymph node' SubClassOf http://purl.obolibrary.org/obo/UBERON_0007644 http://www.ebi.ac.uk/efo/EFO_1001006 Klinefelter's syndrome 'Klinefelter's syndrome' SubClassOf 'genetic disorder' 'Klinefelter's syndrome' SubClassOf 'genetic disorder' 'Klinefelter's syndrome' SubClassOf 'Male infertility due to gonadal dysgenesis' 'Klinefelter's syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015652 'Klinefelter's syndrome' SubClassOf 'X chromosome number anomaly with male phenotype' 'Klinefelter's syndrome' SubClassOf 'Sex chromosome disorder of sex development' http://www.ebi.ac.uk/efo/EFO_1001005 Klatskin's tumor 'Klatskin's tumor' SubClassOf 'cholangiocarcinoma' 'Klatskin's tumor' SubClassOf 'cholangiocarcinoma' http://www.ebi.ac.uk/efo/EFO_1001004 kidney papillary necrosis 'kidney papillary necrosis' SubClassOf 'kidney disease' 'kidney papillary necrosis' SubClassOf 'kidney disease' http://www.ebi.ac.uk/efo/EFO_1001003 kidney cortex necrosis 'kidney cortex necrosis' SubClassOf 'kidney disease' 'kidney cortex necrosis' SubClassOf 'has_disease_location' some ('cortex of kidney' or ('part_of' some 'cortex of kidney')) 'kidney cortex necrosis' SubClassOf 'kidney disease' http://www.ebi.ac.uk/efo/EFO_0000960 obsolete_scale 'obsolete_scale' SubClassOf 'obsolete class' 'obsolete_scale' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001002 kernicterus 'kernicterus' SubClassOf 'brain disease' 'kernicterus' SubClassOf 'brain disease' http://www.ebi.ac.uk/efo/EFO_0000961 obsolete_adult segment 'obsolete_adult segment' SubClassOf 'obsolete class' 'obsolete_adult segment' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001001 keratoconjunctivitis sicca 'keratoconjunctivitis sicca' SubClassOf 'eye disease' 'keratoconjunctivitis sicca' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004768 'keratoconjunctivitis sicca' SubClassOf 'eye disease' 'keratoconjunctivitis sicca' SubClassOf 'has_disease_location' some ('conjunctiva' or ('part_of' some 'conjunctiva')) 'keratoconjunctivitis sicca' SubClassOf 'dry eye syndrome' http://www.ebi.ac.uk/efo/EFO_0000962 obsolete_skin 'obsolete_skin' SubClassOf 'obsolete class' 'obsolete_skin' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001000 juxtacortical osteosarcoma 'juxtacortical osteosarcoma' SubClassOf 'osteosarcoma' 'juxtacortical osteosarcoma' SubClassOf 'osteosarcoma' 'juxtacortical osteosarcoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002628 http://www.ebi.ac.uk/efo/EFO_0000963 obsolete_tail 'obsolete_tail' SubClassOf 'obsolete class' 'obsolete_tail' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_34149 Autosomal dominant medullary cystic kidney disease with or without hyperuricemia 'Autosomal dominant medullary cystic kidney disease with or without hyperuricemia' SubClassOf 'Familial cystic renal disease' 'Autosomal dominant medullary cystic kidney disease with or without hyperuricemia' SubClassOf 'has_disease_location' some 'kidney' 'Autosomal dominant medullary cystic kidney disease with or without hyperuricemia' SubClassOf 'Familial cystic renal disease' http://www.ebi.ac.uk/efo/EFO_0000964 obsolete_head 'obsolete_head' SubClassOf 'obsolete class' 'obsolete_head' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000965 obsolete_thorax 'obsolete_thorax' SubClassOf 'obsolete class' 'obsolete_thorax' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000966 obsolete_trunk 'obsolete_trunk' SubClassOf 'obsolete class' 'obsolete_trunk' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000967 obsolete_neck 'obsolete_neck' SubClassOf 'obsolete class' 'obsolete_neck' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000968 obsolete_abdomen 'obsolete_abdomen' SubClassOf 'obsolete class' 'obsolete_abdomen' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000969 obsolete_female reproductive system 'obsolete_female reproductive system' SubClassOf 'obsolete class' 'obsolete_female reproductive system' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001009 kwashiorkor 'kwashiorkor' SubClassOf 'protein energy malnutrition' 'kwashiorkor' SubClassOf 'protein energy malnutrition' http://www.ebi.ac.uk/efo/EFO_1001008 kuru 'kuru' SubClassOf 'prion disease' 'kuru' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017641 'kuru' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018926 'kuru' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020141 'kuru' SubClassOf 'prion disease' http://www.ebi.ac.uk/efo/EFO_1001007 krebs 2 carcinoma 'krebs 2 carcinoma' SubClassOf 'carcinoma' 'krebs 2 carcinoma' SubClassOf 'carcinoma' http://purl.obolibrary.org/obo/UBERON_0003851 diencephalon neural crest 'diencephalon neural crest' SubClassOf http://purl.obolibrary.org/obo/UBERON_0002342 http://purl.obolibrary.org/obo/UBERON_0003850 telencephalon neural crest 'telencephalon neural crest' SubClassOf http://purl.obolibrary.org/obo/UBERON_0002342 http://purl.obolibrary.org/obo/UBERON_0002539 pharyngeal arch 'pharyngeal arch' SubClassOf 'embryonic structure' 'pharyngeal arch' SubClassOf 'part_of' some 'embryonic structure' 'pharyngeal arch' SubClassOf 'embryonic structure' 'pharyngeal arch' SubClassOf 'part_of' some 'head' http://www.ebi.ac.uk/efo/EFO_0009323 alpha synuclein measurement 'alpha synuclein measurement' SubClassOf 'protein measurement' 'alpha synuclein measurement' SubClassOf 'protein measurement' 'alpha synuclein measurement' SubClassOf 'is_about' some 'neurodegenerative disease' http://www.ebi.ac.uk/efo/EFO_0009324 APOL1 risk genotype carrier status 'APOL1 risk genotype carrier status' SubClassOf 'carrier status' 'APOL1 risk genotype carrier status' SubClassOf 'carrier status' 'APOL1 risk genotype carrier status' SubClassOf 'is_about' some 'chronic kidney disease' http://www.ebi.ac.uk/efo/EFO_0009325 basal ganglia growth measurement 'basal ganglia growth measurement' SubClassOf 'brain growth measurement' 'basal ganglia growth measurement' SubClassOf 'is_about' some 'brain development' 'basal ganglia growth measurement' SubClassOf 'brain growth measurement' 'basal ganglia growth measurement' SubClassOf 'is_about' some 'basal ganglion' http://www.ebi.ac.uk/efo/EFO_0009326 brain growth measurement 'brain growth measurement' SubClassOf 'is_about' some 'brain development' 'brain growth measurement' SubClassOf 'is_about' some 'brain' 'brain growth measurement' SubClassOf 'measurement' http://www.ebi.ac.uk/efo/EFO_0009320 RUES2 'RUES2' SubClassOf 'derives_from' some ('embryonic cell line' and ('part_of' some ('embryo' and ('part_of' some 'Homo sapiens')))) 'RUES2' SubClassOf 'has_quality' some 'female' http://purl.obolibrary.org/obo/UBERON_0002537 hermaphrodite gonad 'hermaphrodite gonad' SubClassOf 'animal component' 'hermaphrodite gonad' SubClassOf 'gonad' http://www.ebi.ac.uk/efo/EFO_0009321 diabetic macular edema 'diabetic macular edema' SubClassOf 'diabetic retinopathy' 'diabetic macular edema' SubClassOf 'diabetic retinopathy' http://purl.obolibrary.org/obo/UBERON_0002538 hatching gland 'hatching gland' SubClassOf 'gland' 'hatching gland' SubClassOf 'embryonic structure' 'hatching gland' SubClassOf 'part_of' some 'ectoderm' 'hatching gland' SubClassOf 'gland' 'hatching gland' SubClassOf 'embryonic structure' 'hatching gland' SubClassOf 'part_of' some 'embryo' http://www.ebi.ac.uk/efo/EFO_0009322 proliferative diabetic retinopathy 'proliferative diabetic retinopathy' SubClassOf 'diabetic retinopathy' 'proliferative diabetic retinopathy' SubClassOf 'diabetic retinopathy' http://www.ebi.ac.uk/efo/EFO_1001017 limited scleroderma 'limited scleroderma' SubClassOf 'systemic scleroderma' 'limited scleroderma' SubClassOf 'systemic scleroderma' http://www.ebi.ac.uk/efo/EFO_0000990 obsolete_meristem 'obsolete_meristem' SubClassOf 'obsolete class' 'obsolete_meristem' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001016 leukostasis 'leukostasis' SubClassOf 'immune system disease' 'leukostasis' SubClassOf 'immune system disease' 'leukostasis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004805 http://www.ebi.ac.uk/efo/EFO_0000991 seed structure 'seed structure' EquivalentTo 'part_of' some 'seed structure' http://www.ebi.ac.uk/efo/EFO_1001015 leukoplakia of penis 'leukoplakia of penis' SubClassOf 'male reproductive system disease' 'leukoplakia of penis' SubClassOf 'reproductive system disease' 'leukoplakia of penis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043243 'leukoplakia of penis' SubClassOf 'has_disease_location' some ('penis' or ('part_of' some 'penis')) 'leukoplakia of penis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002036 http://www.ebi.ac.uk/efo/EFO_0000992 shoot 'shoot system' EquivalentTo 'shoot' http://www.ebi.ac.uk/efo/EFO_1001014 leukemoid reaction 'leukemoid reaction' SubClassOf 'plasma cell neoplasm' 'leukemoid reaction' SubClassOf 'plasma cell neoplasm' http://www.ebi.ac.uk/efo/EFO_0000993 obsolete_leaf 'obsolete_leaf' SubClassOf 'obsolete class' 'obsolete_leaf' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0009327 cerebellum growth measurement 'cerebellum growth measurement' SubClassOf 'brain growth measurement' 'cerebellum growth measurement' SubClassOf 'brain growth measurement' 'cerebellum growth measurement' SubClassOf 'is_about' some 'brain development' 'cerebellum growth measurement' SubClassOf 'is_about' some 'cerebellum' http://www.ebi.ac.uk/efo/EFO_1001013 lethal midline granuloma 'lethal midline granuloma' SubClassOf 'head and neck neoplasia' 'lethal midline granuloma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002436 'lethal midline granuloma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021248 'lethal midline granuloma' SubClassOf 'head and neck neoplasia' http://www.ebi.ac.uk/efo/EFO_0009328 cerebral cortex growth measurement 'cerebral cortex growth measurement' SubClassOf 'brain growth measurement' 'cerebral cortex growth measurement' SubClassOf 'brain growth measurement' 'cerebral cortex growth measurement' SubClassOf 'is_about' some 'brain development' 'cerebral cortex growth measurement' SubClassOf 'is_about' some 'cerebral cortex' http://www.ebi.ac.uk/efo/EFO_1001012 leptomeningeal metastasis 'leptomeningeal metastasis' SubClassOf 'meningeal neoplasm' 'leptomeningeal metastasis' SubClassOf 'meningeal neoplasm' http://www.ebi.ac.uk/efo/EFO_1001011 lateral medullary syndrome 'lateral medullary syndrome' SubClassOf 'brain stem infarction' 'lateral medullary syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'lateral medullary syndrome' SubClassOf 'brain stem infarction' http://www.ebi.ac.uk/efo/EFO_0000996 obsolete_vascular tissue 'obsolete_vascular tissue' SubClassOf 'obsolete class' 'obsolete_vascular tissue' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001010 Landau-Kleffner syndrome 'Landau-Kleffner syndrome' SubClassOf 'epilepsy' 'Landau-Kleffner syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000414 'Landau-Kleffner syndrome' SubClassOf 'Childhood-onset epilepsy syndrome' 'Landau-Kleffner syndrome' SubClassOf 'epilepsy' 'Landau-Kleffner syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 http://www.ebi.ac.uk/efo/EFO_0000998 plant reproductive system structure 'plant reproductive system structure' EquivalentTo 'part_of' some 'plant reproductive system structure' http://www.ebi.ac.uk/efo/EFO_1001019 lip cancer 'lip cancer' SubClassOf 'oral cavity cancer' 'lip cancer' SubClassOf 'oral cavity cancer' 'lip cancer' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000653 'lip cancer' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021249 http://www.ebi.ac.uk/efo/EFO_1001018 lingual goiter 'lingual goiter' SubClassOf 'goiter' 'lingual goiter' SubClassOf 'goiter' http://purl.obolibrary.org/obo/UBERON_0002531 fin bud 'fin bud' SubClassOf http://purl.obolibrary.org/obo/UBERON_0004357 http://purl.obolibrary.org/obo/UBERON_0002533 tail bud 'tail bud' SubClassOf 'animal component' 'tail bud' SubClassOf http://purl.obolibrary.org/obo/UBERON_0006598 'tail bud' SubClassOf 'part_of' some 'embryo' http://purl.obolibrary.org/obo/UBERON_0003861 neural arch 'neural arch' SubClassOf http://purl.obolibrary.org/obo/UBERON_0002513 'neural arch' SubClassOf 'part_of' some 'vertebra' 'neural arch' SubClassOf 'develops_from' some 'vertebra' http://purl.obolibrary.org/obo/UBERON_0002530 gland 'gland' DisjointWith http://purl.obolibrary.org/obo/UBERON_0013398 http://www.ebi.ac.uk/efo/EFO_0009312 proprotein convertase subtilisin/kexin type 9 measurement 'proprotein convertase subtilisin/kexin type 9 measurement' SubClassOf 'measurement' 'proprotein convertase subtilisin/kexin type 9 measurement' SubClassOf 'measurement' http://www.ebi.ac.uk/efo/EFO_1001020 lipoid nephrosis 'lipoid nephrosis' SubClassOf 'kidney disease' 'lipoid nephrosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002462 'lipoid nephrosis' SubClassOf 'kidney disease' http://www.ebi.ac.uk/efo/EFO_0009313 Linear IgA Dermatosis 'Linear IgA Dermatosis' SubClassOf 'autoimmune bullous skin disease' 'Linear IgA Dermatosis' SubClassOf 'autoimmune bullous skin disease' http://www.ebi.ac.uk/efo/EFO_0009314 blood coagulation disease 'blood coagulation disease' SubClassOf 'hematologic disease' 'blood coagulation disease' SubClassOf 'hematologic disease' http://www.ebi.ac.uk/efo/EFO_0009315 thrombophilia 'thrombophilia' SubClassOf 'blood coagulation disease' 'thrombophilia' SubClassOf 'blood coagulation disease' http://www.ebi.ac.uk/efo/EFO_1001028 macular holes 'macular holes' SubClassOf 'eye disease' 'macular holes' SubClassOf 'has_disease_location' some ('retina' or ('part_of' some 'retina')) 'macular holes' SubClassOf 'eye disease' 'macular holes' SubClassOf 'retinopathy' http://www.ebi.ac.uk/efo/EFO_1001027 lymphangiomyoma 'lymphangiomyoma' SubClassOf 'PEComa' 'lymphangiomyoma' SubClassOf 'PEComa' http://www.ebi.ac.uk/efo/EFO_0000980 obsolete_endometrium 'obsolete_endometrium' SubClassOf 'obsolete class' 'obsolete_endometrium' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001026 lymphangioendothelioma 'lymphangioendothelioma' SubClassOf 'neoplasm' 'lymphangioendothelioma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002013 'lymphangioendothelioma' SubClassOf 'neoplasm' http://www.ebi.ac.uk/efo/EFO_0000981 obsolete_ductus deferens 'obsolete_ductus deferens' SubClassOf 'obsolete class' 'obsolete_ductus deferens' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001025 lymphangiectasis 'lymphangiectasis' SubClassOf 'lymphatic system disease' 'lymphangiectasis' SubClassOf 'cardiovascular disease' 'lymphangiectasis' SubClassOf 'has_disease_location' some ('lymphatic vessel' or ('part_of' some 'lymphatic vessel')) 'lymphangiectasis' SubClassOf 'lymphatic system disease' 'lymphangiectasis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021658 http://www.ebi.ac.uk/efo/EFO_0000982 obsolete_epididymus 'obsolete_epididymus' SubClassOf 'obsolete class' 'obsolete_epididymus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001024 Lutembacher's syndrome 'Lutembacher's syndrome' SubClassOf 'atrial heart septal defect' 'Lutembacher's syndrome' SubClassOf 'atrial heart septal defect' http://www.ebi.ac.uk/efo/EFO_0009317 GM20431 'GM20431' SubClassOf 'has_quality' some 'male' 'GM20431' SubClassOf 'derives_from' some ('lymphoblastoid cell line' and ('part_of' some ('blood' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_1001023 lupus vulgaris 'lupus vulgaris' SubClassOf 'Tuberculosis' 'lupus vulgaris' SubClassOf 'Tuberculosis' http://www.ebi.ac.uk/efo/EFO_0000984 obsolete_testis 'obsolete_testis' SubClassOf 'obsolete class' 'obsolete_testis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0009318 HFFc6 'HFFc6' SubClassOf 'has_quality' some 'male' 'HFFc6' SubClassOf 'derives_from' some ('fibroblast' and ('part_of' some ('prepuce of penis' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_1001022 low tension glaucoma 'low tension glaucoma' SubClassOf 'open-angle glaucoma' 'low tension glaucoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002135 'low tension glaucoma' SubClassOf 'has_disease_location' some ('eye' or ('part_of' some 'eye')) 'low tension glaucoma' SubClassOf 'open-angle glaucoma' http://www.ebi.ac.uk/efo/EFO_0000985 obsolete_ejaculatory duct 'obsolete_ejaculatory duct' SubClassOf 'obsolete class' 'obsolete_ejaculatory duct' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0009319 F123-CASTx129 'F123-CASTx129' SubClassOf 'has_quality' some 'male' 'F123-CASTx129' SubClassOf 'derives_from' some ('mouse embryonic stem cell' and ('part_of' some ('embryo' and ('part_of' some 'Mus musculus')))) http://www.ebi.ac.uk/efo/EFO_1001021 Listeria meningitis 'Listeria meningitis' SubClassOf 'bacterial meningitis' 'Listeria meningitis' SubClassOf 'bacterial meningitis' 'Listeria meningitis' SubClassOf 'listeriosis' http://www.ebi.ac.uk/efo/EFO_0000986 obsolete_seminal vesicle 'obsolete_seminal vesicle' SubClassOf 'obsolete class' 'obsolete_seminal vesicle' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000987 obsolete_penis 'obsolete_penis' SubClassOf 'obsolete class' 'obsolete_penis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000989 root structure 'root structure' EquivalentTo 'part_of' some 'root structure' http://www.orpha.net/ORDO/Orphanet_139009 Developmental anomaly of metabolic origin 'Developmental anomaly of metabolic origin' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019755 'Developmental anomaly of metabolic origin' SubClassOf 'metabolic disease' 'Developmental anomaly of metabolic origin' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024297 http://www.ebi.ac.uk/efo/EFO_1001029 magnesium deficiency 'magnesium deficiency' SubClassOf 'nutritional deficiency disease' 'magnesium deficiency' SubClassOf 'nutritional deficiency disease' http://purl.obolibrary.org/obo/UBERON_0001211 Peyer's patch 'Peyer's patch' SubClassOf 'animal component' 'Peyer's patch' SubClassOf 'part_of' some 'intestine' 'Peyer's patch' SubClassOf http://purl.obolibrary.org/obo/UBERON_0001962 http://www.orpha.net/ORDO/Orphanet_213524 Hereditary site-specific ovarian cancer syndrome 'Hereditary site-specific ovarian cancer syndrome' SubClassOf 'Familial ovarian cancer' 'Hereditary site-specific ovarian cancer syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004033 'Hereditary site-specific ovarian cancer syndrome' SubClassOf 'Familial ovarian cancer' http://purl.obolibrary.org/obo/UBERON_0002544 digit 'digit' SubClassOf 'part_of' some 'limb' http://purl.obolibrary.org/obo/CHEBI_4393 (-)-demecolcine '(-)-demecolcine' SubClassOf 'has_role' some 'antineoplastic agent' http://purl.obolibrary.org/obo/UBERON_0002540 lateral line system 'lateral line system' SubClassOf 'part_of' some 'peripheral nervous system' http://purl.obolibrary.org/obo/UBERON_0002541 germ ring 'germ ring' SubClassOf 'develops_from' some 'embryo' http://www.ebi.ac.uk/efo/EFO_0009345 Hepatitis B virus surface antigen seropositivity 'Hepatitis B virus surface antigen seropositivity' SubClassOf 'seropositivity measurement' 'Hepatitis B virus surface antigen seropositivity' SubClassOf 'infectious disease biomarker' 'Hepatitis B virus surface antigen seropositivity' SubClassOf 'seropositivity measurement' 'Hepatitis B virus surface antigen seropositivity' SubClassOf 'is_about' some 'hepatitis B infection' 'Hepatitis B virus surface antigen seropositivity' SubClassOf 'liver disease biomarker' 'Hepatitis B virus surface antigen seropositivity' SubClassOf 'infectious disease biomarker' http://purl.obolibrary.org/obo/CLO_0015115 GM17121 'GM17121' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17121' SubClassOf 'cultured cell' 'GM17121' SubClassOf 'has_quality' some 'female' http://www.ebi.ac.uk/efo/EFO_0009346 Hepatitis B virus core antigen seropositivity 'Hepatitis B virus core antigen seropositivity' SubClassOf 'infectious disease biomarker' 'Hepatitis B virus core antigen seropositivity' SubClassOf 'seropositivity measurement' 'Hepatitis B virus core antigen seropositivity' SubClassOf 'infectious disease biomarker' 'Hepatitis B virus core antigen seropositivity' SubClassOf 'is_about' some 'hepatitis B infection' 'Hepatitis B virus core antigen seropositivity' SubClassOf 'liver disease biomarker' 'Hepatitis B virus core antigen seropositivity' SubClassOf 'seropositivity measurement' http://www.ebi.ac.uk/efo/EFO_0009347 Anti-cytomegalovirus IgG measurement 'Anti-cytomegalovirus IgG measurement' SubClassOf 'serum IgG measurement' 'Anti-cytomegalovirus IgG measurement' SubClassOf 'is_about' some 'cytomegalovirus infection' 'Anti-cytomegalovirus IgG measurement' SubClassOf 'serum IgG measurement' http://purl.obolibrary.org/obo/CLO_0015117 GM17122 'GM17122' SubClassOf 'cultured cell' 'GM17122' SubClassOf 'has_quality' some 'female' 'GM17122' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0009348 Anti-Epstein-Barr virus early antigen IgG measurement 'Anti-Epstein-Barr virus early antigen IgG measurement' SubClassOf 'serum IgG measurement' 'Anti-Epstein-Barr virus early antigen IgG measurement' SubClassOf 'is_about' some 'Epstein-Barr virus infection' 'Anti-Epstein-Barr virus early antigen IgG measurement' SubClassOf 'serum IgG measurement' http://www.ebi.ac.uk/efo/EFO_0009341 Helicobacter pylori seropositivity 'Helicobacter pylori seropositivity' SubClassOf 'infectious disease biomarker' 'Helicobacter pylori seropositivity' SubClassOf 'seropositivity measurement' 'Helicobacter pylori seropositivity' SubClassOf 'is_about' some 'Helicobacter pylori infectious disease' 'Helicobacter pylori seropositivity' SubClassOf 'infectious disease biomarker' 'Helicobacter pylori seropositivity' SubClassOf 'seropositivity measurement' http://purl.obolibrary.org/obo/CLO_0015119 GM17123 'GM17123' SubClassOf 'cultured cell' 'GM17123' SubClassOf 'has_quality' some 'female' 'GM17123' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/CLO_0016449 GM17852 'GM17852' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17852' SubClassOf 'has_quality' some 'male' 'GM17852' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0009342 Measles virus seropositivity 'Measles virus seropositivity' SubClassOf 'seropositivity measurement' 'Measles virus seropositivity' SubClassOf 'infectious disease biomarker' 'Measles virus seropositivity' SubClassOf 'seropositivity measurement' 'Measles virus seropositivity' SubClassOf 'infectious disease biomarker' 'Measles virus seropositivity' SubClassOf 'is_about' some 'measles' http://www.ebi.ac.uk/efo/EFO_0009343 Mumps virus seropositivity 'Mumps virus seropositivity' SubClassOf 'seropositivity measurement' 'Mumps virus seropositivity' SubClassOf 'infectious disease biomarker' 'Mumps virus seropositivity' SubClassOf 'seropositivity measurement' 'Mumps virus seropositivity' SubClassOf 'infectious disease biomarker' 'Mumps virus seropositivity' SubClassOf 'is_about' some 'Mumps virus infectious disease' http://www.ebi.ac.uk/efo/EFO_0009344 Rubella virus seropositivity 'Rubella virus seropositivity' SubClassOf 'infectious disease biomarker' 'Rubella virus seropositivity' SubClassOf 'seropositivity measurement' 'Rubella virus seropositivity' SubClassOf 'infectious disease biomarker' 'Rubella virus seropositivity' SubClassOf 'is_about' some 'rubella' 'Rubella virus seropositivity' SubClassOf 'seropositivity measurement' http://purl.obolibrary.org/obo/HP_0001007 Hirsutism 'Hirsutism' SubClassOf 'abnormality of the integument' 'Hirsutism' SubClassOf 'abnormality of the integument' http://www.ebi.ac.uk/efo/EFO_0009349 Anti-herpes simplex virus 1 IgG measurement 'Anti-herpes simplex virus 1 IgG measurement' SubClassOf 'serum IgG measurement' 'Anti-herpes simplex virus 1 IgG measurement' SubClassOf 'serum IgG measurement' 'Anti-herpes simplex virus 1 IgG measurement' SubClassOf 'is_about' some 'Herpes simplex infection' http://purl.obolibrary.org/obo/CLO_0015112 GM17120 'GM17120' SubClassOf 'cultured cell' 'GM17120' SubClassOf 'has_quality' some 'female' 'GM17120' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/HP_0002342 Intellectual disability, moderate 'Intellectual disability, moderate' SubClassOf 'Intellectual disability' 'Intellectual disability, moderate' SubClassOf 'Intellectual disability' http://www.orpha.net/ORDO/Orphanet_261190 15q14 microdeletion syndrome '15q14 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 15' '15q14 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 15' '15q14 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000761 http://www.ebi.ac.uk/efo/EFO_0009350 Anti-herpes simplex virus 2 IgG measurement 'Anti-herpes simplex virus 2 IgG measurement' SubClassOf 'serum IgG measurement' 'Anti-herpes simplex virus 2 IgG measurement' SubClassOf 'is_about' some 'Herpes simplex infection' 'Anti-herpes simplex virus 2 IgG measurement' SubClassOf 'serum IgG measurement' http://www.ebi.ac.uk/efo/EFO_0009351 Anti-varicella zoster virus IgG measurement 'Anti-varicella zoster virus IgG measurement' SubClassOf 'serum IgG measurement' 'Anti-varicella zoster virus IgG measurement' SubClassOf 'serum IgG measurement' 'Anti-varicella zoster virus IgG measurement' SubClassOf 'is_about' some 'Varicella Zoster infection' http://www.orpha.net/ORDO/Orphanet_261197 Proximal 16p11.2 microdeletion syndrome 'Proximal 16p11.2 microdeletion syndrome' SubClassOf 'Partial deletion of the short arm of chromosome 16' 'Proximal 16p11.2 microdeletion syndrome' SubClassOf 'Rare genetic neurological disorder' 'Proximal 16p11.2 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000761 'Proximal 16p11.2 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Proximal 16p11.2 microdeletion syndrome' SubClassOf 'Partial deletion of the short arm of chromosome 16' 'Proximal 16p11.2 microdeletion syndrome' SubClassOf 'autism' http://purl.obolibrary.org/obo/CLO_0016457 GM17842 'GM17842' SubClassOf 'cultured cell' 'GM17842' SubClassOf 'has_quality' some 'male' 'GM17842' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0009334 prefrontal cortex growth measurement 'prefrontal cortex growth measurement' SubClassOf 'brain growth measurement' 'prefrontal cortex growth measurement' SubClassOf 'is_about' some 'prefrontal cortex' 'prefrontal cortex growth measurement' SubClassOf 'is_about' some 'brain development' 'prefrontal cortex growth measurement' SubClassOf 'brain growth measurement' http://purl.obolibrary.org/obo/CLO_0015126 GM17127 'GM17127' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17127' SubClassOf 'cultured cell' 'GM17127' SubClassOf 'has_quality' some 'female' http://purl.obolibrary.org/obo/CLO_0016456 GM17846 'GM17846' SubClassOf 'has_quality' some 'male' 'GM17846' SubClassOf 'cultured cell' 'GM17846' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0009335 white matter growth measurement 'white matter growth measurement' SubClassOf 'brain growth measurement' 'white matter growth measurement' SubClassOf 'is_about' some 'brain development' 'white matter growth measurement' SubClassOf 'is_about' some 'brain' 'white matter growth measurement' SubClassOf 'brain growth measurement' http://www.ebi.ac.uk/efo/EFO_0008005 energy expenditure measurement 'energy expenditure measurement' SubClassOf 'is_about' some 'energy expenditure' http://purl.obolibrary.org/obo/CLO_0015128 GM17128 'GM17128' SubClassOf 'cultured cell' 'GM17128' SubClassOf 'has_quality' some 'female' 'GM17128' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/CLO_0016458 GM17843 'GM17843' SubClassOf 'has_quality' some 'female' 'GM17843' SubClassOf 'cultured cell' 'GM17843' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0008006 skin aging measurement 'skin aging measurement' SubClassOf 'is_about' some 'skin aging' http://www.ebi.ac.uk/efo/EFO_0009330 Chlamydia trachomatis seropositivity 'Chlamydia trachomatis seropositivity' SubClassOf 'infectious disease biomarker' 'Chlamydia trachomatis seropositivity' SubClassOf 'seropositivity measurement' 'Chlamydia trachomatis seropositivity' SubClassOf 'infectious disease biomarker' 'Chlamydia trachomatis seropositivity' SubClassOf 'seropositivity measurement' 'Chlamydia trachomatis seropositivity' SubClassOf 'is_about' some 'Chlamydia trachomatis infectious disease' http://www.ebi.ac.uk/efo/EFO_0008000 peak insulin response measurement 'peak insulin response measurement' SubClassOf 'is_about' some 'insulin' http://www.ebi.ac.uk/efo/EFO_0009331 erosive tooth wear measurement 'erosive tooth wear measurement' SubClassOf 'measurement' 'erosive tooth wear measurement' SubClassOf 'is_about' some 'tooth disease' 'erosive tooth wear measurement' SubClassOf 'is_about' some 'tooth' 'erosive tooth wear measurement' SubClassOf 'measurement' http://www.ebi.ac.uk/efo/EFO_0008001 insulin secretion rate measurement 'insulin secretion rate measurement' SubClassOf 'is_about' some 'insulin' http://www.ebi.ac.uk/efo/EFO_0009332 executive function measurement 'executive function measurement' SubClassOf 'mental or behavioural disorder biomarker' 'executive function measurement' SubClassOf 'is_about' some 'executive function' 'executive function measurement' SubClassOf 'is_about' some 'brain' 'executive function measurement' SubClassOf 'is_about' some 'unipolar depression' 'executive function measurement' SubClassOf 'is_about' some 'attention deficit hyperactivity disorder' 'executive function measurement' SubClassOf 'is_about' some 'schizophrenia' 'executive function measurement' SubClassOf 'is_about' some 'anxiety disorder' 'executive function measurement' SubClassOf 'is_about' some 'bipolar disorder' 'executive function measurement' SubClassOf 'mental or behavioural disorder biomarker' 'executive function measurement' SubClassOf 'is_about' some 'autism' http://www.ebi.ac.uk/efo/EFO_0008002 physical activity measurement 'physical activity measurement' SubClassOf 'is_about' some 'physical activity' http://purl.obolibrary.org/obo/CLO_0016450 GM17850 'GM17850' SubClassOf 'has_quality' some 'male' 'GM17850' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17850' SubClassOf 'cultured cell' http://purl.obolibrary.org/obo/CLO_0015121 GM17124 'GM17124' SubClassOf 'cultured cell' 'GM17124' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17124' SubClassOf 'has_quality' some 'female' http://purl.obolibrary.org/obo/CLO_0016453 GM17845 'GM17845' SubClassOf 'has_quality' some 'male' 'GM17845' SubClassOf 'cultured cell' 'GM17845' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0009338 Epstein-Barr virus early antigen seropositivity 'Epstein-Barr virus early antigen seropositivity' SubClassOf 'infectious disease biomarker' 'Epstein-Barr virus early antigen seropositivity' SubClassOf 'seropositivity measurement' 'Epstein-Barr virus early antigen seropositivity' SubClassOf 'is_about' some 'Epstein-Barr virus infection' 'Epstein-Barr virus early antigen seropositivity' SubClassOf 'infectious disease biomarker' 'Epstein-Barr virus early antigen seropositivity' SubClassOf 'seropositivity measurement' http://www.ebi.ac.uk/efo/EFO_0009339 Herpes simplex virus 2 seropositivity 'Herpes simplex virus 2 seropositivity' SubClassOf 'infectious disease biomarker' 'Herpes simplex virus 2 seropositivity' SubClassOf 'seropositivity measurement' 'Herpes simplex virus 2 seropositivity' SubClassOf 'infectious disease biomarker' 'Herpes simplex virus 2 seropositivity' SubClassOf 'is_about' some 'Herpes simplex infection' 'Herpes simplex virus 2 seropositivity' SubClassOf 'seropositivity measurement' http://purl.obolibrary.org/obo/CLO_0015123 GM17125 'GM17125' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17125' SubClassOf 'has_quality' some 'male' 'GM17125' SubClassOf 'cultured cell' http://purl.obolibrary.org/obo/CLO_0016455 GM17847 'GM17847' SubClassOf 'cultured cell' 'GM17847' SubClassOf 'has_quality' some 'female' 'GM17847' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/CLO_0015124 GM17126 'GM17126' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17126' SubClassOf 'cultured cell' 'GM17126' SubClassOf 'has_quality' some 'female' http://purl.obolibrary.org/obo/CLO_0016454 GM17844 'GM17844' SubClassOf 'has_quality' some 'female' 'GM17844' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17844' SubClassOf 'cultured cell' http://www.orpha.net/ORDO/Orphanet_261183 15q11.2 microdeletion syndrome '15q11.2 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 15' '15q11.2 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 15' '15q11.2 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000761 http://purl.obolibrary.org/obo/HP_0002353 EEG abnormality 'EEG abnormality' SubClassOf 'abnormality of the nervous system' 'EEG abnormality' SubClassOf 'abnormality of the nervous system' http://purl.obolibrary.org/obo/HP_0002355 Difficulty walking 'Difficulty walking' SubClassOf 'Abnormality of muscle physiology' 'Difficulty walking' SubClassOf 'Abnormality of muscle physiology' http://www.ebi.ac.uk/efo/EFO_0009340 Varicella zoster virus seropositivity 'Varicella zoster virus seropositivity' SubClassOf 'infectious disease biomarker' 'Varicella zoster virus seropositivity' SubClassOf 'seropositivity measurement' 'Varicella zoster virus seropositivity' SubClassOf 'infectious disease biomarker' 'Varicella zoster virus seropositivity' SubClassOf 'is_about' some 'Varicella Zoster infection' 'Varicella zoster virus seropositivity' SubClassOf 'seropositivity measurement' http://www.ebi.ac.uk/efo/EFO_0009367 glucose metabolism measurement 'glucose metabolism measurement' SubClassOf 'Alzheimer's disease biomarker measurement' 'glucose metabolism measurement' SubClassOf 'Alzheimer's disease biomarker measurement' http://www.ebi.ac.uk/efo/EFO_0009368 factor VII activating protease measurement 'factor VII activating protease measurement' SubClassOf 'blood protein measurement' 'factor VII activating protease measurement' SubClassOf 'blood protein measurement' http://www.ebi.ac.uk/efo/EFO_0009369 diffusing capacity of the lung for carbon monoxide 'diffusing capacity of the lung for carbon monoxide' SubClassOf 'pulmonary function measurement' 'diffusing capacity of the lung for carbon monoxide' SubClassOf 'is_about' some 'chronic obstructive pulmonary disease' 'diffusing capacity of the lung for carbon monoxide' SubClassOf 'pulmonary function measurement' 'diffusing capacity of the lung for carbon monoxide' SubClassOf 'is_about' some 'lung' 'diffusing capacity of the lung for carbon monoxide' SubClassOf 'is_about' some 'interstitial lung disease' 'diffusing capacity of the lung for carbon monoxide' SubClassOf 'is_about' some 'asthma' http://www.ebi.ac.uk/efo/EFO_0009363 chronic central serous retinopathy 'chronic central serous retinopathy' SubClassOf 'retinopathy' 'chronic central serous retinopathy' SubClassOf 'has modifier' some 'chronic' 'chronic central serous retinopathy' SubClassOf http://www.ebi.ac.uk/efo/EFO_0009784 'chronic central serous retinopathy' SubClassOf 'has_disease_location' some ('eye' or ('part_of' some 'eye')) http://www.ebi.ac.uk/efo/EFO_0009364 non-allergic rhinitis 'non-allergic rhinitis' SubClassOf 'rhinitis' 'non-allergic rhinitis' SubClassOf 'rhinitis' http://www.ebi.ac.uk/efo/EFO_0009366 quality of life during menstruation measurement 'quality of life during menstruation measurement' SubClassOf 'measurement' 'quality of life during menstruation measurement' SubClassOf 'measurement' http://purl.obolibrary.org/obo/CHEBI_3015 benomyl 'benomyl' SubClassOf 'has_role' some 'drug' http://www.ebi.ac.uk/efo/EFO_0009370 radon exposure measurement 'radon exposure measurement' SubClassOf 'environmental exposure measurement' 'radon exposure measurement' SubClassOf 'environmental exposure measurement' http://www.ebi.ac.uk/efo/EFO_0009356 Anti-mumps virus IgG measurement 'Anti-mumps virus IgG measurement' SubClassOf 'serum IgG measurement' 'Anti-mumps virus IgG measurement' SubClassOf 'is_about' some 'Mumps virus infectious disease' 'Anti-mumps virus IgG measurement' SubClassOf 'serum IgG measurement' http://www.ebi.ac.uk/efo/EFO_0009357 Anti-rubella virus IgG measurement 'Anti-rubella virus IgG measurement' SubClassOf 'serum IgG measurement' 'Anti-rubella virus IgG measurement' SubClassOf 'is_about' some 'rubella' 'Anti-rubella virus IgG measurement' SubClassOf 'serum IgG measurement' http://www.ebi.ac.uk/efo/EFO_0009358 Anti-hepatitis B virus surface antigen IgG measurement 'Anti-hepatitis B virus surface antigen IgG measurement' SubClassOf 'serum IgG measurement' 'Anti-hepatitis B virus surface antigen IgG measurement' SubClassOf 'liver disease biomarker' 'Anti-hepatitis B virus surface antigen IgG measurement' SubClassOf 'is_about' some 'hepatitis B infection' 'Anti-hepatitis B virus surface antigen IgG measurement' SubClassOf 'serum IgG measurement' http://www.ebi.ac.uk/efo/EFO_0009359 Anti-hepatitis B virus core antigen IgG measurement 'Anti-hepatitis B virus core antigen IgG measurement' SubClassOf 'serum IgG measurement' 'Anti-hepatitis B virus core antigen IgG measurement' SubClassOf 'liver disease biomarker' 'Anti-hepatitis B virus core antigen IgG measurement' SubClassOf 'is_about' some 'hepatitis B infection' 'Anti-hepatitis B virus core antigen IgG measurement' SubClassOf 'serum IgG measurement' http://www.ebi.ac.uk/efo/EFO_0009352 Anti-Helicobacter pylori IgG measurement 'Anti-Helicobacter pylori IgG measurement' SubClassOf 'serum IgG measurement' 'Anti-Helicobacter pylori IgG measurement' SubClassOf 'is_about' some 'Helicobacter pylori infectious disease' 'Anti-Helicobacter pylori IgG measurement' SubClassOf 'serum IgG measurement' http://www.ebi.ac.uk/efo/EFO_0009353 Anti-Toxoplasma gondii IgG measurement 'Anti-Toxoplasma gondii IgG measurement' SubClassOf 'serum IgG measurement' 'Anti-Toxoplasma gondii IgG measurement' SubClassOf 'is_about' some 'toxoplasmosis' 'Anti-Toxoplasma gondii IgG measurement' SubClassOf 'serum IgG measurement' http://www.ebi.ac.uk/efo/EFO_0009354 Anti-influenza A virus IgG measurement 'Anti-influenza A virus IgG measurement' SubClassOf 'serum IgG measurement' 'Anti-influenza A virus IgG measurement' SubClassOf 'serum IgG measurement' 'Anti-influenza A virus IgG measurement' SubClassOf 'is_about' some 'influenza infection' http://www.ebi.ac.uk/efo/EFO_0009355 Anti-measles virus IgG measurement 'Anti-measles virus IgG measurement' SubClassOf 'serum IgG measurement' 'Anti-measles virus IgG measurement' SubClassOf 'serum IgG measurement' 'Anti-measles virus IgG measurement' SubClassOf 'is_about' some 'measles' http://purl.obolibrary.org/obo/CHEBI_45081 pentamidine 'pentamidine' SubClassOf 'has_role' some 'drug role' http://purl.obolibrary.org/obo/HP_0002376 Developmental regression 'Developmental regression' SubClassOf 'abnormality of the nervous system' 'Developmental regression' SubClassOf 'abnormality of the nervous system' http://www.ebi.ac.uk/efo/EFO_0009360 eyelid sagging measurement 'eyelid sagging measurement' SubClassOf 'facial morphology measurement' 'eyelid sagging measurement' SubClassOf 'facial morphology measurement' 'eyelid sagging measurement' SubClassOf 'is_about' some 'dermatochalasis' http://purl.obolibrary.org/obo/CHEBI_58386 (S)-2-hydroxyoctadecanoate '(S)-2-hydroxyoctadecanoate' SubClassOf 'lipid' '(S)-2-hydroxyoctadecanoate' SubClassOf 'lipid' http://www.ebi.ac.uk/efo/EFO_0009362 nicotine withdrawal measurement 'nicotine withdrawal measurement' SubClassOf 'measurement' 'nicotine withdrawal measurement' SubClassOf 'measurement' http://purl.obolibrary.org/obo/CLO_0029732 ND00051 'ND00051' SubClassOf 'has_quality' some 'female' 'ND00051' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'ND00051' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0009389 sum of eosinophil and basophil counts 'sum of eosinophil and basophil counts' SubClassOf 'granulocyte count' 'sum of eosinophil and basophil counts' SubClassOf 'granulocyte count' 'sum of eosinophil and basophil counts' SubClassOf 'is_about' some 'blood component' http://purl.obolibrary.org/obo/CLO_0016489 GM17798 'GM17798' SubClassOf 'cultured cell' 'GM17798' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17798' SubClassOf 'has_quality' some 'female' http://www.orpha.net/ORDO/Orphanet_2274 Ichthyosis - hepatosplenomegaly - cerebellar degeneration 'Ichthyosis - hepatosplenomegaly - cerebellar degeneration' SubClassOf 'Autosomal ichthyosis syndrome with other associated signs' 'Ichthyosis - hepatosplenomegaly - cerebellar degeneration' SubClassOf 'Autosomal ichthyosis syndrome with other associated signs' 'Ichthyosis - hepatosplenomegaly - cerebellar degeneration' SubClassOf 'hereditary ataxia' http://www.orpha.net/ORDO/Orphanet_2273 Ichthyosis follicularis - alopecia - photophobia 'Ichthyosis follicularis - alopecia - photophobia' SubClassOf 'X-linked ichthyosis syndrome' 'Ichthyosis follicularis - alopecia - photophobia' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Ichthyosis follicularis - alopecia - photophobia' SubClassOf 'X-linked ichthyosis syndrome' 'Ichthyosis follicularis - alopecia - photophobia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021034 'Ichthyosis follicularis - alopecia - photophobia' SubClassOf 'Malformation syndrome with skin/mucosae involvement' http://www.ebi.ac.uk/efo/EFO_0009386 central nervous system disease 'central nervous system disease' SubClassOf 'nervous system disease' 'central nervous system disease' SubClassOf 'nervous system disease' 'central nervous system disease' EquivalentTo 'has_disease_location' some ('central nervous system' or ('part_of' some 'central nervous system')) http://www.orpha.net/ORDO/Orphanet_2272 Ichthyosis - oral and digital anomalies 'Ichthyosis - oral and digital anomalies' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Ichthyosis - oral and digital anomalies' SubClassOf 'Autosomal ichthyosis syndrome with other associated signs' 'Ichthyosis - oral and digital anomalies' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Ichthyosis - oral and digital anomalies' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Ichthyosis - oral and digital anomalies' SubClassOf 'Autosomal ichthyosis syndrome with other associated signs' 'Ichthyosis - oral and digital anomalies' SubClassOf 'Malformation syndrome with skin/mucosae involvement' http://www.ebi.ac.uk/efo/EFO_0009387 peripheral nervous system disease 'peripheral nervous system disease' SubClassOf 'nervous system disease' 'peripheral nervous system disease' SubClassOf 'nervous system disease' 'peripheral nervous system disease' EquivalentTo 'has_disease_location' some ('peripheral nervous system' or ('part_of' some 'peripheral nervous system')) http://www.orpha.net/ORDO/Orphanet_2271 Congenital ichthyosis - microcephalus - tetraplegia 'Congenital ichthyosis - microcephalus - tetraplegia' SubClassOf 'Autosomal ichthyosis syndrome with prominent neurologics signs' 'Congenital ichthyosis - microcephalus - tetraplegia' SubClassOf 'Autosomal ichthyosis syndrome with prominent neurologics signs' http://www.ebi.ac.uk/efo/EFO_0009388 sum of basophil and neutrophil counts 'sum of basophil and neutrophil counts' SubClassOf 'granulocyte count' 'sum of basophil and neutrophil counts' SubClassOf 'is_about' some 'blood component' 'sum of basophil and neutrophil counts' SubClassOf 'granulocyte count' http://www.orpha.net/ORDO/Orphanet_2278 Ichthyosis - intellectual disability - dwarfism - renal impairment 'Ichthyosis - intellectual disability - dwarfism - renal impairment' SubClassOf 'Syndromic renal or urinary tract malformation' 'Ichthyosis - intellectual disability - dwarfism - renal impairment' SubClassOf 'Autosomal ichthyosis syndrome with other associated signs' 'Ichthyosis - intellectual disability - dwarfism - renal impairment' SubClassOf 'Syndromic renal or urinary tract malformation' 'Ichthyosis - intellectual disability - dwarfism - renal impairment' SubClassOf 'Autosomal ichthyosis syndrome with other associated signs' http://purl.obolibrary.org/obo/CHEBI_5613 haloperidol 'haloperidol' SubClassOf 'has_role' some 'antipsychotic drug' http://purl.obolibrary.org/obo/CHEBI_5615 halothane 'halothane' SubClassOf 'has_role' some 'inhalation anaesthetic' http://purl.obolibrary.org/obo/HP_0002304 Akinesia 'Akinesia' SubClassOf 'behavioral abnormality' 'Akinesia' SubClassOf 'behavioral abnormality' http://www.ebi.ac.uk/efo/EFO_0009392 glucose metabolism decline measurement 'glucose metabolism decline measurement' SubClassOf 'glucose metabolism disease' 'glucose metabolism decline measurement' SubClassOf 'glucose metabolism disease' http://www.ebi.ac.uk/efo/EFO_0009393 breast pressure measurement 'breast pressure measurement' SubClassOf 'breast size' 'breast pressure measurement' SubClassOf 'breast size' http://www.ebi.ac.uk/efo/EFO_0009394 hippocampal CA1 volume 'hippocampal CA1 volume' SubClassOf 'hippocampal volume' 'hippocampal CA1 volume' SubClassOf 'hippocampal volume' http://www.ebi.ac.uk/efo/EFO_0009395 hippocampal CA3 volume 'hippocampal CA3 volume' SubClassOf 'hippocampal volume' 'hippocampal CA3 volume' SubClassOf 'hippocampal volume' http://purl.obolibrary.org/obo/UBERON_0001264 pancreas 'pancreas' SubClassOf 'part_of' some 'trunk' 'pancreas' DisjointWith http://purl.obolibrary.org/obo/UBERON_0010264 'pancreas' SubClassOf 'part_of' some 'endocrine system' http://www.ebi.ac.uk/efo/EFO_0009390 sum of neutrophil and eosinophil counts 'sum of neutrophil and eosinophil counts' SubClassOf 'granulocyte count' 'sum of neutrophil and eosinophil counts' SubClassOf 'is_about' some 'blood component' 'sum of neutrophil and eosinophil counts' SubClassOf 'granulocyte count' http://www.ebi.ac.uk/efo/EFO_0009391 response to tamoxifen 'response to tamoxifen' SubClassOf 'response to antineoplastic agent' 'response to tamoxifen' SubClassOf 'has_input' some 'tamoxifen' 'response to tamoxifen' SubClassOf 'response to antineoplastic agent' http://www.orpha.net/ORDO/Orphanet_2287 Fused mandibular incisors 'Fused mandibular incisors' SubClassOf 'Rare odontal or periodontal disorder' 'Fused mandibular incisors' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018488 'Fused mandibular incisors' SubClassOf 'Rare odontal or periodontal disorder' 'Fused mandibular incisors' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003847 http://www.orpha.net/ORDO/Orphanet_2286 Solitary median maxillary central incisor syndrome 'Solitary median maxillary central incisor syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Solitary median maxillary central incisor syndrome' SubClassOf 'Microform holoprosencephaly' 'Solitary median maxillary central incisor syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Solitary median maxillary central incisor syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0007733 'Solitary median maxillary central incisor syndrome' SubClassOf 'Microform holoprosencephaly' http://www.orpha.net/ORDO/Orphanet_2285 Primary basilar impression 'Primary basilar impression' SubClassOf 'Rare genetic neurological disorder' 'Primary basilar impression' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015141 http://www.ebi.ac.uk/efo/EFO_0009374 energy intake measurement 'energy intake measurement' SubClassOf 'diet measurement' 'energy intake measurement' SubClassOf 'is_about' some 'energy intake' 'energy intake measurement' SubClassOf 'diet measurement' http://www.orpha.net/ORDO/Orphanet_2282 Dysmorphism - short stature - deafness - disorder of sex development 'Dysmorphism - short stature - deafness - disorder of sex development' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Dysmorphism - short stature - deafness - disorder of sex development' SubClassOf 'Syndrome with disorder of sex development of gynecological interest' 'Dysmorphism - short stature - deafness - disorder of sex development' SubClassOf 'Syndrome with 46,XY disorder of sex development' 'Dysmorphism - short stature - deafness - disorder of sex development' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Dysmorphism - short stature - deafness - disorder of sex development' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Dysmorphism - short stature - deafness - disorder of sex development' SubClassOf 'Syndrome with disorder of sex development of gynecological interest' 'Dysmorphism - short stature - deafness - disorder of sex development' SubClassOf 'Syndrome with 46,XY disorder of sex development' 'Dysmorphism - short stature - deafness - disorder of sex development' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 http://purl.obolibrary.org/obo/CLO_0016493 GM17796 'GM17796' SubClassOf 'has_quality' some 'male' 'GM17796' SubClassOf 'cultured cell' 'GM17796' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/CLO_0016492 GM17801 'GM17801' SubClassOf 'has_quality' some 'female' 'GM17801' SubClassOf 'cultured cell' 'GM17801' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/CLO_0016495 GM17802 'GM17802' SubClassOf 'has_quality' some 'female' 'GM17802' SubClassOf 'cultured cell' 'GM17802' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/CLO_0016494 GM17797 'GM17797' SubClassOf 'cultured cell' 'GM17797' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17797' SubClassOf 'has_quality' some 'female' http://purl.obolibrary.org/obo/CLO_0016497 GM17804 'GM17804' SubClassOf 'cultured cell' 'GM17804' SubClassOf 'has_quality' some 'male' 'GM17804' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/CLO_0016496 GM17803 'GM17803' SubClassOf 'cultured cell' 'GM17803' SubClassOf 'has_quality' some 'female' 'GM17803' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/CLO_0016499 GM17811 'GM17811' SubClassOf 'has_quality' some 'female' 'GM17811' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17811' SubClassOf 'cultured cell' http://purl.obolibrary.org/obo/CLO_0016498 GM17805 'GM17805' SubClassOf 'cultured cell' 'GM17805' SubClassOf 'has_quality' some 'male' 'GM17805' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://www.orpha.net/ORDO/Orphanet_2289 Neuronal intranuclear inclusion disease 'Neuronal intranuclear inclusion disease' SubClassOf 'Genetic neurodegenerative disease' 'Neuronal intranuclear inclusion disease' SubClassOf 'Miscellaneous movement disorder due to genetic neurodegenerative disease' 'Neuronal intranuclear inclusion disease' SubClassOf 'Genetic neurodegenerative disease' 'Neuronal intranuclear inclusion disease' SubClassOf 'Miscellaneous movement disorder due to genetic neurodegenerative disease' 'Neuronal intranuclear inclusion disease' SubClassOf 'Genetic dementia' http://purl.obolibrary.org/obo/HP_0002313 Spastic paraparesis 'Spastic paraparesis' SubClassOf 'Hypertonia' 'Spastic paraparesis' SubClassOf 'Hypertonia' http://purl.obolibrary.org/obo/CLO_0016491 GM17800 'GM17800' SubClassOf 'has_quality' some 'female' 'GM17800' SubClassOf 'cultured cell' 'GM17800' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/CLO_0016490 GM17799 'GM17799' SubClassOf 'has_quality' some 'female' 'GM17799' SubClassOf 'cultured cell' 'GM17799' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/UBERON_0001277 intestinal epithelium 'intestinal epithelium' SubClassOf 'animal component' 'intestinal epithelium' SubClassOf http://purl.obolibrary.org/obo/UBERON_0003350 'intestinal epithelium' SubClassOf http://purl.obolibrary.org/obo/UBERON_0003929 'intestinal epithelium' SubClassOf http://purl.obolibrary.org/obo/UBERON_0004808 'intestinal epithelium' SubClassOf http://purl.obolibrary.org/obo/UBERON_0000485 http://www.ebi.ac.uk/efo/EFO_0009381 fibroblast growth factor 23 measurement 'fibroblast growth factor 23 measurement' SubClassOf 'blood protein measurement' 'fibroblast growth factor 23 measurement' SubClassOf 'blood protein measurement' 'fibroblast growth factor 23 measurement' SubClassOf 'is_about' some 'phosphate ion homeostasis' http://www.ebi.ac.uk/efo/EFO_0009382 metabolically healthy obesity 'metabolically healthy obesity' SubClassOf 'obesity' 'metabolically healthy obesity' SubClassOf 'obesity' http://purl.obolibrary.org/obo/UBERON_0001273 ilium 'ilium' SubClassOf http://purl.obolibrary.org/obo/UBERON_0007830 'ilium' SubClassOf 'part_of' some 'appendicular skeleton' 'ilium' SubClassOf 'develops_from' some 'mesoderm' 'ilium' SubClassOf http://purl.obolibrary.org/obo/UBERON_0002513 'ilium' SubClassOf 'develops_from' some 'appendicular skeleton' http://www.ebi.ac.uk/efo/EFO_0009380 facial neuralgia 'facial neuralgia' SubClassOf 'facial nerve disease' 'facial neuralgia' SubClassOf 'neuralgia' 'facial neuralgia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016374 'facial neuralgia' SubClassOf 'facial nerve disease' http://www.orpha.net/ORDO/Orphanet_2298 Insulin-resistance syndrome type B 'Insulin-resistance syndrome type B' SubClassOf 'Rare insulin-resistance syndrome' 'Insulin-resistance syndrome type B' SubClassOf 'Rare insulin-resistance syndrome' http://www.orpha.net/ORDO/Orphanet_2297 Insulin-resistance syndrome type A 'Insulin-resistance syndrome type A' SubClassOf 'Rare female infertility due to an anomaly of ovarian function of genetic origin' 'Insulin-resistance syndrome type A' SubClassOf 'Rare insulin-resistance syndrome' 'Insulin-resistance syndrome type A' SubClassOf 'Rare female infertility due to an anomaly of ovarian function of genetic origin' 'Insulin-resistance syndrome type A' SubClassOf 'Inborn errors of metabolism' 'Insulin-resistance syndrome type A' SubClassOf 'Rare insulin-resistance syndrome' http://www.orpha.net/ORDO/Orphanet_2295 Ehlers-Danlos syndrome type 11 'Ehlers-Danlos syndrome type 11' SubClassOf 'Ehlers-Danlos syndrome' 'Ehlers-Danlos syndrome type 11' SubClassOf 'Ehlers-Danlos syndrome' http://www.orpha.net/ORDO/Orphanet_2292 Congenital bowing of long bones 'Congenital bowing of long bones' SubClassOf 'Congenital deformities of limbs' 'Congenital bowing of long bones' SubClassOf 'Bent bone dysplasia' 'Congenital bowing of long bones' SubClassOf 'Congenital deformities of limbs' 'Congenital bowing of long bones' SubClassOf 'Bent bone dysplasia' http://purl.obolibrary.org/obo/CLO_0015130 GM17129 'GM17129' SubClassOf 'cultured cell' 'GM17129' SubClassOf 'has_quality' some 'female' 'GM17129' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://www.orpha.net/ORDO/Orphanet_2290 Microvillus inclusion disease 'Microvillus inclusion disease' SubClassOf 'Congenital enteropathy involving intestinal mucosa development' 'Microvillus inclusion disease' SubClassOf 'Genetic intractable diarrhea of infancy' 'Microvillus inclusion disease' SubClassOf 'Congenital enteropathy involving intestinal mucosa development' 'Microvillus inclusion disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0045032 'Microvillus inclusion disease' SubClassOf 'Genetic intractable diarrhea of infancy' http://www.ebi.ac.uk/efo/EFO_0008080 cerebrospinal fluid volume measurement 'cerebrospinal fluid volume measurement' SubClassOf 'is_about' some 'volume' 'cerebrospinal fluid volume measurement' SubClassOf 'is_about' some 'brain' 'cerebrospinal fluid volume measurement' SubClassOf 'is_about' some 'cerebrospinal fluid' http://www.ebi.ac.uk/efo/EFO_0009396 hippocampal CA4 volume 'hippocampal CA4 volume' SubClassOf 'hippocampal volume' 'hippocampal CA4 volume' SubClassOf 'hippocampal volume' http://www.ebi.ac.uk/efo/EFO_0009397 hippocampus molecular layer volume 'hippocampus molecular layer volume' SubClassOf 'hippocampal volume' 'hippocampus molecular layer volume' SubClassOf 'hippocampal volume' http://www.ebi.ac.uk/efo/EFO_0009398 hippocampal tail volume 'hippocampal tail volume' SubClassOf 'hippocampal volume' 'hippocampal tail volume' SubClassOf 'hippocampal volume' http://www.ebi.ac.uk/efo/EFO_0009399 subiculum volume 'subiculum volume' SubClassOf 'hippocampal volume' 'subiculum volume' SubClassOf 'hippocampal volume' http://purl.obolibrary.org/obo/UBERON_0001295 endometrium 'endometrium' SubClassOf 'animal component' 'endometrium' SubClassOf 'part_of' some 'uterus' 'endometrium' SubClassOf http://purl.obolibrary.org/obo/UBERON_0019042 http://purl.obolibrary.org/obo/UBERON_0001296 myometrium 'myometrium' SubClassOf 'part_of' some 'uterus' http://www.orpha.net/ORDO/Orphanet_1023 Congenital generalized hypertrichosis, Ambras type 'Congenital generalized hypertrichosis, Ambras type' SubClassOf 'Hypertrichosis lanuginosa congenita' 'Congenital generalized hypertrichosis, Ambras type' SubClassOf 'Hypertrichosis lanuginosa congenita' http://www.orpha.net/ORDO/Orphanet_2353 Schilbach-Rott syndrome 'Schilbach-Rott syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Schilbach-Rott syndrome' SubClassOf 'Syndromic urogenital tract malformation' 'Schilbach-Rott syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Schilbach-Rott syndrome' SubClassOf 'Syndromic urogenital tract malformation' http://www.orpha.net/ORDO/Orphanet_1020 Early-onset autosomal dominant Alzheimer disease 'Early-onset autosomal dominant Alzheimer disease' SubClassOf 'Genetic neurodegenerative disease with dementia' 'Early-onset autosomal dominant Alzheimer disease' SubClassOf 'Alzheimer's disease' 'Early-onset autosomal dominant Alzheimer disease' SubClassOf 'Genetic neurodegenerative disease with dementia' 'Early-onset autosomal dominant Alzheimer disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 'Early-onset autosomal dominant Alzheimer disease' SubClassOf 'Alzheimer's disease' http://www.orpha.net/ORDO/Orphanet_1021 Amaurosis - hypertrichosis 'Amaurosis - hypertrichosis' SubClassOf 'Retinal dystrophy' 'Amaurosis - hypertrichosis' SubClassOf 'Retinal dystrophy' http://www.orpha.net/ORDO/Orphanet_263768 Partial duplication of chromosome X 'Partial duplication of chromosome X' SubClassOf 'Chromosome X structural anomaly' 'Partial duplication of chromosome X' SubClassOf 'Chromosome X structural anomaly' http://www.orpha.net/ORDO/Orphanet_1028 Amelo-onycho-hypohidrotic syndrome 'Amelo-onycho-hypohidrotic syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Amelo-onycho-hypohidrotic syndrome' SubClassOf 'Ectodermal dysplasia syndrome' http://www.orpha.net/ORDO/Orphanet_275752 Sickle cell disease and related diseases 'Sickle cell disease and related diseases' SubClassOf 'Hemoglobinopathy' 'Sickle cell disease and related diseases' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019050 'Sickle cell disease and related diseases' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002280 'Sickle cell disease and related diseases' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://www.orpha.net/ORDO/Orphanet_1027 Autosomal recessive amelia 'Autosomal recessive amelia' SubClassOf 'Genetic syndrome with limb reduction defects' 'Autosomal recessive amelia' SubClassOf 'Genetic syndrome with limb reduction defects' 'Autosomal recessive amelia' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' 'Autosomal recessive amelia' SubClassOf 'autosomal recessive disease' http://www.orpha.net/ORDO/Orphanet_2356 Arachnoid cyst 'Arachnoid cyst' SubClassOf 'Genetic non-syndromic central nervous system malformation' 'Arachnoid cyst' SubClassOf 'disease has feature' some http://purl.obolibrary.org/obo/MONDO_0019834 'Arachnoid cyst' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017104 http://purl.obolibrary.org/obo/CHEBI_58454 kynurenate 'kynurenate' SubClassOf 'chemical entity' 'kynurenate' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_275749 Beta-thalassemia and related diseases 'Beta-thalassemia and related diseases' SubClassOf 'Thalassemia' 'Beta-thalassemia and related diseases' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Beta-thalassemia and related diseases' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019050 'Beta-thalassemia and related diseases' SubClassOf 'Thalassemia' 'Beta-thalassemia and related diseases' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002280 http://www.orpha.net/ORDO/Orphanet_263775 Partial duplication of the short arm of chromosome X 'Partial duplication of the short arm of chromosome X' SubClassOf 'Partial duplication of chromosome X' 'Partial duplication of the short arm of chromosome X' SubClassOf 'Partial duplication of chromosome X' http://www.orpha.net/ORDO/Orphanet_261112 Monosomy 9p 'Monosomy 9p' SubClassOf 'Partial deletion of the short arm of chromosome 9' 'Monosomy 9p' SubClassOf 'Partial deletion of the short arm of chromosome 9' 'Monosomy 9p' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000761 http://www.orpha.net/ORDO/Orphanet_1034 Amniotic bands 'Amniotic bands' SubClassOf 'Terminal limb defects' 'Amniotic bands' SubClassOf 'Terminal limb defects' http://www.orpha.net/ORDO/Orphanet_2364 Glycogen storage disease due to lactate dehydrogenase deficiency 'Glycogen storage disease due to lactate dehydrogenase deficiency' SubClassOf 'Glycogen storage disease' 'Glycogen storage disease due to lactate dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044976 'Glycogen storage disease due to lactate dehydrogenase deficiency' SubClassOf 'Glycogen storage disease' http://www.orpha.net/ORDO/Orphanet_2363 Lacrimoauriculodentodigital syndrome 'Lacrimoauriculodentodigital syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Lacrimoauriculodentodigital syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Lacrimoauriculodentodigital syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Lacrimoauriculodentodigital syndrome' SubClassOf 'EEC syndrome and related syndrome' 'Lacrimoauriculodentodigital syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Lacrimoauriculodentodigital syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Lacrimoauriculodentodigital syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Lacrimoauriculodentodigital syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018562 'Lacrimoauriculodentodigital syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 'Lacrimoauriculodentodigital syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015503 'Lacrimoauriculodentodigital syndrome' SubClassOf 'EEC syndrome and related syndrome' http://www.orpha.net/ORDO/Orphanet_1032 Hyperdibasic aminoaciduria type 1 'Hyperdibasic aminoaciduria type 1' SubClassOf 'Disorder of amino acid absorption and transport' 'Hyperdibasic aminoaciduria type 1' SubClassOf 'Disorder of amino acid absorption and transport' http://www.ebi.ac.uk/efo/EFO_0009297 fg syndrome 'fg syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 http://www.orpha.net/ORDO/Orphanet_263756 Partial deletion of the long arm of chromosome X 'Partial deletion of the long arm of chromosome X' SubClassOf 'Partial deletion of chromosome X' 'Partial deletion of the long arm of chromosome X' SubClassOf 'Partial deletion of chromosome X' http://www.orpha.net/ORDO/Orphanet_275745 Alpha-thalassemia and related diseases 'Alpha-thalassemia and related diseases' SubClassOf 'Thalassemia' 'Alpha-thalassemia and related diseases' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Alpha-thalassemia and related diseases' SubClassOf 'Thalassemia' 'Alpha-thalassemia and related diseases' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002280 http://www.orpha.net/ORDO/Orphanet_275742 Genetic infertility 'Genetic infertility' SubClassOf 'reproductive system disease' 'Genetic infertility' SubClassOf 'has_disease_location' some 'reproductive system' 'Genetic infertility' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003847 'Genetic infertility' EquivalentTo 'infertility' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) 'Genetic infertility' SubClassOf 'infertility' http://www.orpha.net/ORDO/Orphanet_1037 Arthrogryposis multiplex congenita 'Arthrogryposis multiplex congenita' SubClassOf 'Arthrogryposis syndrome' 'Arthrogryposis multiplex congenita' SubClassOf 'Arthrogryposis syndrome' http://purl.obolibrary.org/obo/CHEBI_6904 metoprolol 'metoprolol' SubClassOf 'has_role' some 'drug role' http://www.orpha.net/ORDO/Orphanet_1035 Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria 'Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria' SubClassOf 'Genetic neurodegenerative disease' 'Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_261102 Distal 7q11.23 microduplication syndrome 'Distal 7q11.23 microduplication syndrome' SubClassOf 'Partial duplication of the long arm of chromosome 7' 'Distal 7q11.23 microduplication syndrome' SubClassOf 'Partial duplication of the long arm of chromosome 7' http://www.orpha.net/ORDO/Orphanet_309505 Disorder of fucoglycosan synthesis 'Disorder of fucoglycosan synthesis' SubClassOf 'Disorder of protein O-glycosylation' 'Disorder of fucoglycosan synthesis' SubClassOf 'Disorder of protein O-glycosylation' http://www.orpha.net/ORDO/Orphanet_1044 Anemia due to adenosine triphosphatase deficiency 'Anemia due to adenosine triphosphatase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003847 http://www.orpha.net/ORDO/Orphanet_2375 Laryngeal abductor paralysis - intellectual disability 'Laryngeal abductor paralysis - intellectual disability' SubClassOf 'X-linked syndromic intellectual disability' 'Laryngeal abductor paralysis - intellectual disability' SubClassOf 'respiratory system disease' 'Laryngeal abductor paralysis - intellectual disability' SubClassOf 'X-linked syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_2374 Congenital laryngeal web 'Congenital laryngeal web' SubClassOf 'Larynx anomaly' 'Congenital laryngeal web' SubClassOf 'Larynx anomaly' 'Congenital laryngeal web' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Congenital laryngeal web' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018562 http://www.orpha.net/ORDO/Orphanet_2373 Congenital laryngomalacia 'Congenital laryngomalacia' SubClassOf 'Larynx anomaly' 'Congenital laryngomalacia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018562 'Congenital laryngomalacia' SubClassOf 'Larynx anomaly' http://www.orpha.net/ORDO/Orphanet_1040 Metaphyseal anadysplasia 'Metaphyseal anadysplasia' SubClassOf 'Multiple metaphyseal dysplasia' 'Metaphyseal anadysplasia' SubClassOf 'Multiple metaphyseal dysplasia' 'Metaphyseal anadysplasia' SubClassOf 'Spondyloepimetaphyseal dysplasia, Missouri type' http://www.orpha.net/ORDO/Orphanet_2371 Lethal Larsen-like syndrome 'Lethal Larsen-like syndrome' SubClassOf 'Malformation syndrome with connective tissue involvement' 'Lethal Larsen-like syndrome' SubClassOf 'Primary bone dysplasia with multiple joint dislocations' 'Lethal Larsen-like syndrome' SubClassOf 'Malformation syndrome with connective tissue involvement' 'Lethal Larsen-like syndrome' SubClassOf 'Primary bone dysplasia with multiple joint dislocations' http://www.orpha.net/ORDO/Orphanet_2370 Larsen-like osseous dysplasia - short stature 'Larsen-like osseous dysplasia - short stature' SubClassOf 'Primary bone dysplasia with multiple joint dislocations' 'Larsen-like osseous dysplasia - short stature' SubClassOf 'Primary bone dysplasia with multiple joint dislocations' http://www.orpha.net/ORDO/Orphanet_263746 Y chromosome number anomaly 'Y chromosome number anomaly' SubClassOf 'Gonosome number anomaly' 'Y chromosome number anomaly' SubClassOf 'Gonosome number anomaly' http://www.orpha.net/ORDO/Orphanet_263749 X and Y chromosomal anomaly 'X and Y chromosomal anomaly' SubClassOf 'Gonosome number anomaly' 'X and Y chromosomal anomaly' SubClassOf 'Gonosome number anomaly' http://www.orpha.net/ORDO/Orphanet_1048 Isolated anencephaly/exencephaly 'Isolated anencephaly/exencephaly' SubClassOf 'Neural tube closure defect' 'Isolated anencephaly/exencephaly' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Isolated anencephaly/exencephaly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000819 'Isolated anencephaly/exencephaly' SubClassOf 'Neural tube closure defect' 'Isolated anencephaly/exencephaly' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Isolated anencephaly/exencephaly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 http://www.orpha.net/ORDO/Orphanet_2379 Early-onset parkinsonism - intellectual disability 'Early-onset parkinsonism - intellectual disability' SubClassOf 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' 'Early-onset parkinsonism - intellectual disability' SubClassOf 'X-linked syndromic intellectual disability' 'Early-onset parkinsonism - intellectual disability' SubClassOf 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' 'Early-onset parkinsonism - intellectual disability' SubClassOf 'X-linked syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_1046 Lethal hemolytic anemia - genital anomalies 'Lethal hemolytic anemia - genital anomalies' SubClassOf 'Syndromic urogenital tract malformation' 'Lethal hemolytic anemia - genital anomalies' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000577 'Lethal hemolytic anemia - genital anomalies' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004139 'Lethal hemolytic anemia - genital anomalies' SubClassOf 'Syndromic urogenital tract malformation' http://www.orpha.net/ORDO/Orphanet_2378 Laurin-Sandrow syndrome 'Laurin-Sandrow syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Laurin-Sandrow syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' http://www.orpha.net/ORDO/Orphanet_2377 Laurence-Moon syndrome 'Laurence-Moon syndrome' SubClassOf 'Rare disorder with hypogonadotropic hypogonadism' 'Laurence-Moon syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Laurence-Moon syndrome' SubClassOf 'Unclassified primitive or secondary maculopathy' 'Laurence-Moon syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Laurence-Moon syndrome' SubClassOf 'Syndromic retinitis pigmentosa' 'Laurence-Moon syndrome' SubClassOf 'Rare disorder with hypogonadotropic hypogonadism' 'Laurence-Moon syndrome' SubClassOf 'autosomal recessive disease' 'Laurence-Moon syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Laurence-Moon syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Laurence-Moon syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Laurence-Moon syndrome' SubClassOf 'Unclassified primitive or secondary maculopathy' 'Laurence-Moon syndrome' SubClassOf 'Syndromic retinitis pigmentosa' http://purl.obolibrary.org/obo/CHEBI_6923 miconazole 'miconazole' SubClassOf 'has_role' some 'fungicide' http://purl.obolibrary.org/obo/CHEBI_84634 O-tetradecanoyl-L-carnitine 'O-tetradecanoyl-L-carnitine' SubClassOf 'lipid' 'O-tetradecanoyl-L-carnitine' SubClassOf 'lipid' http://www.orpha.net/ORDO/Orphanet_275729 Rare hemorrhagic disorder due to a constitutional thrombocytopenia 'Rare hemorrhagic disorder due to a constitutional thrombocytopenia' SubClassOf 'Rare hemorrhagic disorder due to a constitutional platelet anomaly' 'Rare hemorrhagic disorder due to a constitutional thrombocytopenia' SubClassOf 'Rare hemorrhagic disorder due to a constitutional platelet anomaly' http://purl.obolibrary.org/obo/CHEBI_73990 2-oleoylglycerol '2-oleoylglycerol' SubClassOf 'lipid' '2-oleoylglycerol' SubClassOf 'lipid' http://www.orpha.net/ORDO/Orphanet_248111 Juvenile Huntington disease 'Juvenile Huntington disease' SubClassOf 'Neurodegenerative disease with chorea' 'Juvenile Huntington disease' SubClassOf 'Genetic neurodegenerative disease with dementia' 'Juvenile Huntington disease' SubClassOf 'Huntington disease' http://www.orpha.net/ORDO/Orphanet_2387 Leukonychia totalis 'Leukonychia totalis' SubClassOf 'Isolated nail anomaly' 'Leukonychia totalis' SubClassOf 'Isolated nail anomaly' http://www.orpha.net/ORDO/Orphanet_2386 Leukoencephalopathy-palmoplantar keratoderma syndrome 'Leukoencephalopathy-palmoplantar keratoderma syndrome' SubClassOf 'Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature' 'Leukoencephalopathy-palmoplantar keratoderma syndrome' SubClassOf 'Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature' http://purl.obolibrary.org/obo/CHEBI_72665 12,13-DiHOME '12,13-DiHOME' SubClassOf 'lipid' '12,13-DiHOME' SubClassOf 'lipid' http://www.orpha.net/ORDO/Orphanet_1051 Ramos-Arroyo syndrome 'Ramos-Arroyo syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Ramos-Arroyo syndrome' SubClassOf 'Syndromic genetic deafness' 'Ramos-Arroyo syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Ramos-Arroyo syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Ramos-Arroyo syndrome' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_1052 Mosaic variegated aneuploidy syndrome 'Mosaic variegated aneuploidy syndrome' SubClassOf 'Chromosomal anomaly' 'Mosaic variegated aneuploidy syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Mosaic variegated aneuploidy syndrome' SubClassOf 'Chromosomal anomaly' 'Mosaic variegated aneuploidy syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' http://www.orpha.net/ORDO/Orphanet_2382 Lennox-Gastaut syndrome 'Lennox-Gastaut syndrome' SubClassOf 'Childhood-onset epilepsy syndrome' 'Lennox-Gastaut syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Lennox-Gastaut syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000414 'Lennox-Gastaut syndrome' SubClassOf 'Childhood-onset epilepsy syndrome' http://purl.obolibrary.org/obo/CHEBI_72663 9,10-DiHOME '9,10-DiHOME' SubClassOf 'lipid' '9,10-DiHOME' SubClassOf 'lipid' http://www.orpha.net/ORDO/Orphanet_2380 Legg-Calvé-Perthes disease 'Legg-Calvé-Perthes disease' SubClassOf 'Type 2 collagen-related bone disorder' 'Legg-Calvé-Perthes disease' SubClassOf 'Osteochondrosis' 'Legg-Calvé-Perthes disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0022800 'Legg-Calvé-Perthes disease' SubClassOf 'Type 2 collagen-related bone disorder' http://www.orpha.net/ORDO/Orphanet_1059 Blue rubber bleb nevus 'Blue rubber bleb nevus' SubClassOf 'Genetic vascular anomaly' 'Blue rubber bleb nevus' SubClassOf 'Inherited cancer-predisposing syndrome' 'Blue rubber bleb nevus' SubClassOf 'Inherited cancer-predisposing syndrome' 'Blue rubber bleb nevus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019293 'Blue rubber bleb nevus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 'Blue rubber bleb nevus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018730 http://www.orpha.net/ORDO/Orphanet_2388 Choreoacanthocytosis 'Choreoacanthocytosis' SubClassOf 'Neurometabolic disease' 'Choreoacanthocytosis' SubClassOf 'Other genetic epidermal disease' 'Choreoacanthocytosis' SubClassOf 'Rare hereditary metabolic disease with peripheral neuropathy' 'Choreoacanthocytosis' SubClassOf 'Neuroacanthocytosis' 'Choreoacanthocytosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019274 'Choreoacanthocytosis' SubClassOf 'Neurometabolic disease' 'Choreoacanthocytosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016406 'Choreoacanthocytosis' SubClassOf 'Other genetic epidermal disease' 'Choreoacanthocytosis' SubClassOf 'Metabolic disease with dementia' 'Choreoacanthocytosis' SubClassOf 'Rare hereditary metabolic disease with peripheral neuropathy' 'Choreoacanthocytosis' SubClassOf 'Neurodegenerative disease with chorea' 'Choreoacanthocytosis' SubClassOf 'Neuroacanthocytosis' 'Choreoacanthocytosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 http://purl.obolibrary.org/obo/CHEBI_84647 O-[(9Z)-tetradecenoyl]-L-carnitine 'O-[(9Z)-tetradecenoyl]-L-carnitine' SubClassOf 'chemical entity' 'O-[(9Z)-tetradecenoyl]-L-carnitine' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_2310 Absence deformity of leg - cataract 'Absence deformity of leg - cataract' SubClassOf 'Genetic syndrome with limb reduction defects' 'Absence deformity of leg - cataract' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' 'Absence deformity of leg - cataract' SubClassOf 'Genetic syndrome with limb reduction defects' http://www.orpha.net/ORDO/Orphanet_2318 Joubert syndrome with oculorenal defect 'Joubert syndrome with oculorenal defect' SubClassOf 'Genetic syndrome with a cerebellar malformation as major feature' 'Joubert syndrome with oculorenal defect' SubClassOf 'Joubert syndrome and related disorders' 'Joubert syndrome with oculorenal defect' SubClassOf 'Oculomotor apraxia or related oculomotor disease' 'Joubert syndrome with oculorenal defect' SubClassOf 'Syndromic retinitis pigmentosa' 'Joubert syndrome with oculorenal defect' SubClassOf 'Joubert syndrome and related disorders' 'Joubert syndrome with oculorenal defect' SubClassOf 'Oculomotor apraxia or related oculomotor disease' 'Joubert syndrome with oculorenal defect' SubClassOf 'Syndromic retinitis pigmentosa' http://www.orpha.net/ORDO/Orphanet_2316 Johnson neuroectodermal syndrome 'Johnson neuroectodermal syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Johnson neuroectodermal syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Johnson neuroectodermal syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Johnson neuroectodermal syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Johnson neuroectodermal syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Johnson neuroectodermal syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 http://www.orpha.net/ORDO/Orphanet_2315 Johanson-Blizzard syndrome 'Johanson-Blizzard syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Johanson-Blizzard syndrome' SubClassOf 'Disease associated with non-acquired combined pituitary hormone deficiency' 'Johanson-Blizzard syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Johanson-Blizzard syndrome' SubClassOf 'Syndromic hypothyroidism' 'Johanson-Blizzard syndrome' SubClassOf 'Syndromic anorectal malformation' 'Johanson-Blizzard syndrome' SubClassOf 'Genetic malformation syndrome with short stature' 'Johanson-Blizzard syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Johanson-Blizzard syndrome' SubClassOf 'Disease associated with non-acquired combined pituitary hormone deficiency' 'Johanson-Blizzard syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Johanson-Blizzard syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Johanson-Blizzard syndrome' SubClassOf 'Syndromic hypothyroidism' 'Johanson-Blizzard syndrome' SubClassOf 'autosomal recessive disease' 'Johanson-Blizzard syndrome' SubClassOf 'Syndromic genetic deafness' 'Johanson-Blizzard syndrome' SubClassOf 'Syndromic anorectal malformation' 'Johanson-Blizzard syndrome' SubClassOf 'Genetic malformation syndrome with short stature' http://www.orpha.net/ORDO/Orphanet_2314 Autosomal dominant hyper-IgE syndrome 'Autosomal dominant hyper-IgE syndrome' SubClassOf 'Genetic immune deficiency with skin involvement' 'Autosomal dominant hyper-IgE syndrome' SubClassOf 'Hyper-IgE syndrome' 'Autosomal dominant hyper-IgE syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 'Autosomal dominant hyper-IgE syndrome' SubClassOf 'Genetic immune deficiency with skin involvement' 'Autosomal dominant hyper-IgE syndrome' SubClassOf 'Hyper-IgE syndrome' 'Autosomal dominant hyper-IgE syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 http://www.orpha.net/ORDO/Orphanet_2312 Transient familial neonatal hyperbilirubinemia 'Transient familial neonatal hyperbilirubinemia' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Transient familial neonatal hyperbilirubinemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002408 'Transient familial neonatal hyperbilirubinemia' SubClassOf 'liver disease' http://www.orpha.net/ORDO/Orphanet_2311 Autosomal recessive spondylocostal dysostosis 'Autosomal recessive spondylocostal dysostosis' SubClassOf 'Congenital disorder of glycosylation-related bone disorder' 'Autosomal recessive spondylocostal dysostosis' SubClassOf 'Disorder of fucoglycosan synthesis' 'Autosomal recessive spondylocostal dysostosis' SubClassOf 'Dysostosis with predominant vertebral and costal involvement' 'Autosomal recessive spondylocostal dysostosis' SubClassOf 'Congenital disorder of glycosylation-related bone disorder' 'Autosomal recessive spondylocostal dysostosis' SubClassOf 'Disorder of fucoglycosan synthesis' 'Autosomal recessive spondylocostal dysostosis' SubClassOf 'autosomal recessive disease' 'Autosomal recessive spondylocostal dysostosis' SubClassOf 'Dysostosis with predominant vertebral and costal involvement' 'Autosomal recessive spondylocostal dysostosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000359 http://purl.obolibrary.org/obo/HP_0002269 Abnormality of neuronal migration 'Abnormality of neuronal migration' SubClassOf 'abnormality of the nervous system' 'Abnormality of neuronal migration' SubClassOf 'abnormality of the nervous system' http://www.orpha.net/ORDO/Orphanet_95157 Acute hepatic porphyria 'Acute hepatic porphyria' SubClassOf 'Porphyria' 'Acute hepatic porphyria' SubClassOf 'Porphyria' 'Acute hepatic porphyria' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019142 'Acute hepatic porphyria' SubClassOf 'liver disease' http://www.orpha.net/ORDO/Orphanet_2309 Pachyonychia congenita 'Pachyonychia congenita' SubClassOf 'Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature' 'Pachyonychia congenita' SubClassOf 'Syndromic nail anomaly' 'Pachyonychia congenita' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Pachyonychia congenita' SubClassOf 'Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature' 'Pachyonychia congenita' SubClassOf 'Syndromic nail anomaly' 'Pachyonychia congenita' SubClassOf 'Malformation syndrome with skin/mucosae involvement' http://www.orpha.net/ORDO/Orphanet_2308 Jacobsen syndrome 'Jacobsen syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 11' 'Jacobsen syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Jacobsen syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Jacobsen syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020169 'Jacobsen syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0009332 'Jacobsen syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 11' 'Jacobsen syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018795 http://purl.obolibrary.org/obo/CHEBI_72689 O-oleoylcarnitine 'O-oleoylcarnitine' SubClassOf 'chemical entity' 'O-oleoylcarnitine' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_2329 Karsch-Neugebauer syndrome 'Karsch-Neugebauer syndrome' SubClassOf 'Genetic syndrome with limb reduction defects' 'Karsch-Neugebauer syndrome' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' 'Karsch-Neugebauer syndrome' SubClassOf 'Genetic syndrome with limb reduction defects' http://www.orpha.net/ORDO/Orphanet_95159 Hepatoerythropoietic porphyria 'Hepatoerythropoietic porphyria' SubClassOf 'Chronic hepatic porphyria' 'Hepatoerythropoietic porphyria' SubClassOf 'Familial porphyria cutanea tarda' 'Hepatoerythropoietic porphyria' SubClassOf 'Porphyria cutanea tarda' http://www.orpha.net/ORDO/Orphanet_2328 Kapur-Toriello syndrome 'Kapur-Toriello syndrome' SubClassOf 'Orofacial clefting syndrome' 'Kapur-Toriello syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Kapur-Toriello syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Kapur-Toriello syndrome' SubClassOf 'Orofacial clefting syndrome' 'Kapur-Toriello syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Kapur-Toriello syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 'Kapur-Toriello syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 http://www.orpha.net/ORDO/Orphanet_2326 Kallmann syndrome - heart disease 'Kallmann syndrome - heart disease' SubClassOf 'Rare disorder with hypogonadotropic hypogonadism' 'Kallmann syndrome - heart disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007 'Kallmann syndrome - heart disease' SubClassOf 'Rare disorder with hypogonadotropic hypogonadism' http://www.orpha.net/ORDO/Orphanet_2325 Epidermolysis bullosa simplex with anodontia/hypodontia 'Epidermolysis bullosa simplex with anodontia/hypodontia' SubClassOf 'Epidermolysis bullosa simplex' 'Epidermolysis bullosa simplex with anodontia/hypodontia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020014 'Epidermolysis bullosa simplex with anodontia/hypodontia' SubClassOf 'Epidermolysis bullosa simplex' http://www.orpha.net/ORDO/Orphanet_2324 Kaler-Garrity-Stern syndrome 'Kaler-Garrity-Stern syndrome' SubClassOf 'Primary bone dysplasia with decreased bone density' 'Kaler-Garrity-Stern syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 'Kaler-Garrity-Stern syndrome' SubClassOf 'Primary bone dysplasia with decreased bone density' 'Kaler-Garrity-Stern syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 http://www.orpha.net/ORDO/Orphanet_2323 Sanjad-Sakati syndrome 'Sanjad-Sakati syndrome' SubClassOf 'Syndrome with hypoparathyroidism' 'Sanjad-Sakati syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Sanjad-Sakati syndrome' SubClassOf 'autosomal recessive disease' 'Sanjad-Sakati syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Sanjad-Sakati syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Sanjad-Sakati syndrome' SubClassOf 'Syndrome with hypoparathyroidism' 'Sanjad-Sakati syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_2322 Kabuki syndrome 'Kabuki syndrome' SubClassOf 'Genetic malformation syndrome with short stature' 'Kabuki syndrome' SubClassOf 'Congenital ectropion' 'Kabuki syndrome' SubClassOf 'Syndromic anorectal malformation' 'Kabuki syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Kabuki syndrome' SubClassOf 'Congenital entropion' 'Kabuki syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 'Kabuki syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015880 'Kabuki syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Kabuki syndrome' SubClassOf 'Genetic malformation syndrome with short stature' 'Kabuki syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015216 'Kabuki syndrome' SubClassOf 'Congenital ectropion' 'Kabuki syndrome' SubClassOf 'Syndromic anorectal malformation' 'Kabuki syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Kabuki syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Kabuki syndrome' SubClassOf 'Congenital entropion' http://purl.obolibrary.org/obo/CHEBI_22470 alpha-tocopherol 'alpha-tocopherol' SubClassOf 'has_role' some 'vitamin' http://www.orpha.net/ORDO/Orphanet_2319 Juberg-Hayward syndrome 'Juberg-Hayward syndrome' SubClassOf 'Orofacial clefting syndrome' 'Juberg-Hayward syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Juberg-Hayward syndrome' SubClassOf 'Orofacial clefting syndrome' 'Juberg-Hayward syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Juberg-Hayward syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 http://www.orpha.net/ORDO/Orphanet_261144 14q12 microdeletion syndrome '14q12 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 14' '14q12 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 14' http://www.orpha.net/ORDO/Orphanet_95161 Chronic hepatic porphyria 'Chronic hepatic porphyria' SubClassOf 'Porphyria' 'Chronic hepatic porphyria' SubClassOf 'Acute hepatic porphyria' http://www.orpha.net/ORDO/Orphanet_1000 Ocular albinism with late-onset sensorineural deafness 'Ocular albinism with late-onset sensorineural deafness' SubClassOf 'Ocular albinism' 'Ocular albinism with late-onset sensorineural deafness' SubClassOf 'Syndromic genetic deafness' 'Ocular albinism with late-onset sensorineural deafness' SubClassOf 'Ocular albinism' 'Ocular albinism with late-onset sensorineural deafness' SubClassOf 'Developmental anomaly of metabolic origin' 'Ocular albinism with late-onset sensorineural deafness' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_2332 KBG syndrome 'KBG syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'KBG syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'KBG syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'KBG syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'KBG syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'KBG syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 http://www.orpha.net/ORDO/Orphanet_1001 2q37 microdeletion syndrome '2q37 microdeletion syndrome' SubClassOf 'Syndrome with brachydactyly' '2q37 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 2' '2q37 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 '2q37 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 '2q37 microdeletion syndrome' SubClassOf 'Syndrome with brachydactyly' '2q37 microdeletion syndrome' SubClassOf 'Rare genetic neurological disorder' '2q37 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 2' http://www.orpha.net/ORDO/Orphanet_1008 Alopecia - epilepsy - pyorrhea - intellectual disability 'Alopecia - epilepsy - pyorrhea - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021034 'Alopecia - epilepsy - pyorrhea - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 http://www.orpha.net/ORDO/Orphanet_2339 Keratosis follicularis - dwarfism - cerebral atrophy 'Keratosis follicularis - dwarfism - cerebral atrophy' SubClassOf 'Other genetic epidermal disease' 'Keratosis follicularis - dwarfism - cerebral atrophy' SubClassOf 'X-linked syndromic intellectual disability' 'Keratosis follicularis - dwarfism - cerebral atrophy' SubClassOf 'Other genetic epidermal disease' 'Keratosis follicularis - dwarfism - cerebral atrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 'Keratosis follicularis - dwarfism - cerebral atrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019274 'Keratosis follicularis - dwarfism - cerebral atrophy' SubClassOf 'X-linked syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_275777 Heritable pulmonary arterial hypertension 'Heritable pulmonary arterial hypertension' SubClassOf 'Idiopathic and/or familial pulmonary arterial hypertension' 'Heritable pulmonary arterial hypertension' EquivalentTo 'pulmonary arterial hypertension' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) 'Heritable pulmonary arterial hypertension' SubClassOf 'Genetic hypertension' 'Heritable pulmonary arterial hypertension' SubClassOf 'Idiopathic and/or familial pulmonary arterial hypertension' http://www.orpha.net/ORDO/Orphanet_1006 Alopecia antibody deficiency 'Alopecia antibody deficiency' SubClassOf 'Alopecia' 'Alopecia antibody deficiency' SubClassOf 'Alopecia' 'Alopecia antibody deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021034 http://www.orpha.net/ORDO/Orphanet_2338 Isolated punctate palmoplantar keratoderma 'Isolated punctate palmoplantar keratoderma' SubClassOf 'Punctate palmoplantar keratoderma' 'Isolated punctate palmoplantar keratoderma' SubClassOf 'Punctate palmoplantar keratoderma' 'Isolated punctate palmoplantar keratoderma' EquivalentTo 'Punctate palmoplantar keratoderma' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021128) 'Isolated punctate palmoplantar keratoderma' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021128 http://www.orpha.net/ORDO/Orphanet_2337 Non-epidermolytic palmoplantar keratoderma 'Non-epidermolytic palmoplantar keratoderma' SubClassOf 'Isolated diffuse palmoplantar keratoderma' http://www.orpha.net/ORDO/Orphanet_1005 Alopecia-contractures-dwarfism-intellectual disability syndrome 'Alopecia-contractures-dwarfism-intellectual disability syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Alopecia-contractures-dwarfism-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Alopecia-contractures-dwarfism-intellectual disability syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Alopecia-contractures-dwarfism-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 http://www.orpha.net/ORDO/Orphanet_2334 Autosomal dominant keratitis 'Autosomal dominant keratitis' SubClassOf 'Corneal dystrophy' 'Autosomal dominant keratitis' SubClassOf 'Rare genetic neurological disorder' 'Autosomal dominant keratitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 'Autosomal dominant keratitis' SubClassOf 'keratitis' 'Autosomal dominant keratitis' SubClassOf 'Corneal dystrophy' http://www.orpha.net/ORDO/Orphanet_1003 Scalp defects - postaxial polydactyly 'Scalp defects - postaxial polydactyly' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Scalp defects - postaxial polydactyly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 'Scalp defects - postaxial polydactyly' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Scalp defects - postaxial polydactyly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019294 http://www.orpha.net/ORDO/Orphanet_2333 Kenny-Caffey syndrome 'Kenny-Caffey syndrome' SubClassOf 'Genetic malformation syndrome with short stature' 'Kenny-Caffey syndrome' SubClassOf 'Syndrome with hypoparathyroidism' 'Kenny-Caffey syndrome' SubClassOf 'Slender bone dysplasia' 'Kenny-Caffey syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 'Kenny-Caffey syndrome' SubClassOf 'Genetic malformation syndrome with short stature' 'Kenny-Caffey syndrome' SubClassOf 'Syndrome with hypoparathyroidism' 'Kenny-Caffey syndrome' SubClassOf 'Slender bone dysplasia' http://www.orpha.net/ORDO/Orphanet_263793 Uniparental disomy of chromosome X 'Uniparental disomy of chromosome X' SubClassOf 'Chromosome X structural anomaly' 'Uniparental disomy of chromosome X' SubClassOf 'Chromosome X structural anomaly' http://purl.obolibrary.org/obo/HP_0002283 Global brain atrophy 'Global brain atrophy' SubClassOf 'abnormality of brain morphology' 'Global brain atrophy' SubClassOf 'abnormality of brain morphology' http://www.orpha.net/ORDO/Orphanet_2343 Isolated cloverleaf skull syndrome 'Isolated cloverleaf skull syndrome' SubClassOf 'Isolated craniosynostosis' 'Isolated cloverleaf skull syndrome' SubClassOf 'Isolated craniosynostosis' http://www.orpha.net/ORDO/Orphanet_2342 Haim-Munk syndrome 'Haim-Munk syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Haim-Munk syndrome' SubClassOf 'Disorder of lysosomal-related organelles' 'Haim-Munk syndrome' SubClassOf 'Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature' 'Haim-Munk syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Haim-Munk syndrome' SubClassOf 'Disorder of lysosomal-related organelles' 'Haim-Munk syndrome' SubClassOf 'Developmental anomaly of metabolic origin' 'Haim-Munk syndrome' SubClassOf 'Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature' http://www.orpha.net/ORDO/Orphanet_1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia 'Autosomal dominant palmoplantar keratoderma and congenital alopecia' SubClassOf 'Ectodermal dysplasia syndrome' 'Autosomal dominant palmoplantar keratoderma and congenital alopecia' SubClassOf 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' 'Autosomal dominant palmoplantar keratoderma and congenital alopecia' SubClassOf 'Ectodermal dysplasia syndrome' 'Autosomal dominant palmoplantar keratoderma and congenital alopecia' SubClassOf 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' http://www.orpha.net/ORDO/Orphanet_2340 Keratosis follicularis spinulosa decalvans 'Keratosis follicularis spinulosa decalvans' SubClassOf 'Keratosis pilaris atrophicans' 'Keratosis follicularis spinulosa decalvans' SubClassOf 'Secondary ectropion' 'Keratosis follicularis spinulosa decalvans' SubClassOf 'Keratosis pilaris atrophicans' 'Keratosis follicularis spinulosa decalvans' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 'Keratosis follicularis spinulosa decalvans' SubClassOf 'keratosis' 'Keratosis follicularis spinulosa decalvans' SubClassOf 'folliculitis' 'Keratosis follicularis spinulosa decalvans' SubClassOf 'Secondary ectropion' http://www.orpha.net/ORDO/Orphanet_275766 Idiopathic pulmonary arterial hypertension 'Idiopathic pulmonary arterial hypertension' SubClassOf 'Idiopathic and/or familial pulmonary arterial hypertension' 'Idiopathic pulmonary arterial hypertension' SubClassOf 'Idiopathic and/or familial pulmonary arterial hypertension' http://www.orpha.net/ORDO/Orphanet_2349 Muscular pseudohypertrophy - hypothyroidism 'Muscular pseudohypertrophy - hypothyroidism' SubClassOf 'Syndromic hypothyroidism' 'Muscular pseudohypertrophy - hypothyroidism' SubClassOf 'Syndromic hypothyroidism' http://www.orpha.net/ORDO/Orphanet_1018 X-linked diffuse leiomyomatosis - Alport syndrome 'X-linked diffuse leiomyomatosis - Alport syndrome' SubClassOf 'Basement membrane disease' 'X-linked diffuse leiomyomatosis - Alport syndrome' SubClassOf 'Partial deletion of the long arm of chromosome X' 'X-linked diffuse leiomyomatosis - Alport syndrome' SubClassOf 'Basement membrane disease' 'X-linked diffuse leiomyomatosis - Alport syndrome' SubClassOf 'Partial deletion of the long arm of chromosome X' http://www.orpha.net/ORDO/Orphanet_2348 Familial partial lipodystrophy, Dunnigan type 'Familial partial lipodystrophy, Dunnigan type' SubClassOf 'Familial partial lipodystrophy' 'Familial partial lipodystrophy, Dunnigan type' SubClassOf 'Developmental anomaly of metabolic origin' 'Familial partial lipodystrophy, Dunnigan type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015333 'Familial partial lipodystrophy, Dunnigan type' SubClassOf 'Familial partial lipodystrophy' http://www.orpha.net/ORDO/Orphanet_2347 Lethal Kniest-like dysplasia 'Lethal Kniest-like dysplasia' SubClassOf 'Lethal chondrodysplasia' 'Lethal Kniest-like dysplasia' SubClassOf 'Lethal chondrodysplasia' http://www.orpha.net/ORDO/Orphanet_2346 Angioosteohypertrophic syndrome 'Angioosteohypertrophic syndrome' SubClassOf 'Congenital vascular bone syndrome' 'Angioosteohypertrophic syndrome' SubClassOf 'Overgrowth syndrome' 'Angioosteohypertrophic syndrome' SubClassOf 'Malformation syndrome with hamartosis' 'Angioosteohypertrophic syndrome' SubClassOf 'Genetic vascular anomaly' 'Angioosteohypertrophic syndrome' SubClassOf 'Congenital vascular bone syndrome' 'Angioosteohypertrophic syndrome' SubClassOf 'Overgrowth syndrome' 'Angioosteohypertrophic syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 'Angioosteohypertrophic syndrome' SubClassOf 'Malformation syndrome with hamartosis' 'Angioosteohypertrophic syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019293 'Angioosteohypertrophic syndrome' SubClassOf 'Genetic vascular anomaly' 'Angioosteohypertrophic syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Angioosteohypertrophic syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016235 'Angioosteohypertrophic syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 http://www.orpha.net/ORDO/Orphanet_2345 Isolated Klippel-Feil syndrome 'Isolated Klippel-Feil syndrome' SubClassOf 'Dysostosis with predominant vertebral and costal involvement' 'Isolated Klippel-Feil syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001029 'Isolated Klippel-Feil syndrome' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0001029 and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021128) 'Isolated Klippel-Feil syndrome' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021128 http://www.orpha.net/ORDO/Orphanet_275761 Lysosomal acid lipase deficiency 'Lysosomal acid lipase deficiency' SubClassOf 'Lipid storage disease' 'Lysosomal acid lipase deficiency' SubClassOf 'Rare syndromic dyslipidemia' 'Lysosomal acid lipase deficiency' SubClassOf 'Lipid storage disease' 'Lysosomal acid lipase deficiency' SubClassOf 'Rare syndromic dyslipidemia' http://www.orpha.net/ORDO/Orphanet_1014 Alopecia - intellectual disability - hypergonadotropic hypogonadism 'Alopecia - intellectual disability - hypergonadotropic hypogonadism' SubClassOf 'Alopecia' 'Alopecia - intellectual disability - hypergonadotropic hypogonadism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021034 'Alopecia - intellectual disability - hypergonadotropic hypogonadism' SubClassOf 'Alopecia' http://www.orpha.net/ORDO/Orphanet_263783 Partial duplication of the long arm of chromosome X 'Partial duplication of the long arm of chromosome X' SubClassOf 'Partial duplication of chromosome X' 'Partial duplication of the long arm of chromosome X' SubClassOf 'Partial duplication of chromosome X' http://purl.obolibrary.org/obo/UBERON_0003922 pancreatic bud 'pancreatic bud' SubClassOf 'develops_from' some 'duodenum' 'pancreatic bud' SubClassOf http://purl.obolibrary.org/obo/UBERON_0007499 'pancreatic bud' SubClassOf 'part_of' some 'pancreas primordium' 'pancreatic bud' SubClassOf http://purl.obolibrary.org/obo/UBERON_0005911 http://purl.obolibrary.org/obo/UBERON_0003921 pancreas primordium 'pancreas primordium' SubClassOf 'primordium' 'pancreas primordium' SubClassOf 'part_of' some 'embryo' 'pancreas primordium' SubClassOf 'develops_from' some 'endoderm' 'pancreas primordium' SubClassOf 'primordium' 'pancreas primordium' SubClassOf 'part_of' some 'embryonic structure' 'pancreas primordium' SubClassOf http://purl.obolibrary.org/obo/UBERON_0006598 http://purl.obolibrary.org/obo/HP_0100698 Subcutaneous neurofibromas 'Subcutaneous neurofibromas' SubClassOf 'neurofibroma' 'Subcutaneous neurofibromas' SubClassOf 'neurofibroma' http://purl.obolibrary.org/obo/UBERON_0003936 postoptic commissure 'postoptic commissure' SubClassOf 'part_of' some 'diencephalon' http://purl.obolibrary.org/obo/UBERON_0003932 cartilage element of chondrocranium 'cartilage element of chondrocranium' SubClassOf 'develops_from' some 'skeleton' 'cartilage element of chondrocranium' SubClassOf 'part_of' some 'skeletal system' http://purl.obolibrary.org/obo/UBERON_0003934 mesenchyme pectoral fin 'mesenchyme pectoral fin' SubClassOf 'part_of' some 'appendage' 'mesenchyme pectoral fin' SubClassOf 'develops_from' some 'embryonic structure' http://purl.obolibrary.org/obo/NCBITaxon_168172 Puccinia striiformis f. sp. tritici 'Puccinia striiformis f. sp. tritici' SubClassOf 'Fungi' 'Puccinia striiformis f. sp. tritici' SubClassOf 'Fungi' http://www.orpha.net/ORDO/Orphanet_238744 Mammary-digital-nail syndrome 'Mammary-digital-nail syndrome' SubClassOf 'Genetic syndrome with limb reduction defects' 'Mammary-digital-nail syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015852 'Mammary-digital-nail syndrome' SubClassOf 'Genetic syndrome with limb reduction defects' 'Mammary-digital-nail syndrome' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' http://purl.obolibrary.org/obo/CHEBI_35703 xenobiotic 'xenobiotic' SubClassOf 'inheres_in' some 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_35705 immunosuppressive agent 'immunosuppressive agent' SubClassOf 'inheres_in' some 'chemical entity' http://purl.obolibrary.org/obo/UBERON_0002623 cerebral peduncle 'cerebral peduncle' SubClassOf 'part_of' some 'central nervous system' http://www.orpha.net/ORDO/Orphanet_2307 IVIC syndrome 'IVIC syndrome' SubClassOf 'Genetic syndrome with limb reduction defects' 'IVIC syndrome' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' 'IVIC syndrome' SubClassOf 'Genetic syndrome with limb reduction defects' http://www.orpha.net/ORDO/Orphanet_2306 Isotretinoin-like syndrome 'Isotretinoin-like syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007 http://www.orpha.net/ORDO/Orphanet_2301 Congenital short bowel syndrome 'Congenital short bowel syndrome' SubClassOf 'Primary short bowel syndrome' 'Congenital short bowel syndrome' SubClassOf 'Non-syndromic intestinal malformation' 'Congenital short bowel syndrome' SubClassOf 'Primary short bowel syndrome' http://www.orpha.net/ORDO/Orphanet_2300 Multiple intestinal atresia 'Multiple intestinal atresia' SubClassOf 'Non-syndromic intestinal malformation' 'Multiple intestinal atresia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018035 'Multiple intestinal atresia' SubClassOf 'Non-syndromic intestinal malformation' 'Multiple intestinal atresia' SubClassOf 'autosomal recessive disease' http://www.orpha.net/ORDO/Orphanet_238722 Familial congenital mirror movements 'Familial congenital mirror movements' SubClassOf 'movement disorder' 'Familial congenital mirror movements' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Familial congenital mirror movements' SubClassOf 'Rare genetic tremor disorder' http://www.orpha.net/ORDO/Orphanet_309568 Defect in conserved oligomeric Golgi complex 'Defect in conserved oligomeric Golgi complex' SubClassOf 'Disorder of multiple glycosylation' 'Defect in conserved oligomeric Golgi complex' SubClassOf 'Disorder of multiple glycosylation' http://www.orpha.net/ORDO/Orphanet_263723 Polysomy of X chromosome 'Polysomy of X chromosome' SubClassOf 'X chromosome number anomaly with female phenotype' 'Polysomy of X chromosome' SubClassOf 'X chromosome number anomaly with female phenotype' http://www.orpha.net/ORDO/Orphanet_263726 Partial deletion of chromosome X 'Partial deletion of chromosome X' SubClassOf 'Chromosome X structural anomaly' 'Partial deletion of chromosome X' SubClassOf 'Chromosome X structural anomaly' http://www.orpha.net/ORDO/Orphanet_263731 Partial monosomy of the short arm of chromosome X 'Partial monosomy of the short arm of chromosome X' SubClassOf 'Partial deletion of chromosome X' 'Partial monosomy of the short arm of chromosome X' SubClassOf 'Partial deletion of chromosome X' http://www.orpha.net/ORDO/Orphanet_263714 X chromosome number anomaly 'X chromosome number anomaly' SubClassOf 'Gonosome number anomaly' 'X chromosome number anomaly' SubClassOf 'Gonosome number anomaly' http://www.orpha.net/ORDO/Orphanet_164001 Rare odontal or periodontal disorder 'Rare odontal or periodontal disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020013 http://www.orpha.net/ORDO/Orphanet_263717 X chromosome number anomaly with female phenotype 'X chromosome number anomaly with female phenotype' SubClassOf 'X chromosome number anomaly' 'X chromosome number anomaly with female phenotype' SubClassOf 'X chromosome number anomaly' http://www.orpha.net/ORDO/Orphanet_263720 X chromosome number anomaly with male phenotype 'X chromosome number anomaly with male phenotype' SubClassOf 'X chromosome number anomaly' 'X chromosome number anomaly with male phenotype' SubClassOf 'X chromosome number anomaly' http://www.orpha.net/ORDO/Orphanet_48818 Aceruloplasminemia 'Aceruloplasminemia' SubClassOf 'Disorder of iron metabolism and transport' 'Aceruloplasminemia' SubClassOf 'Constitutional anemia due to iron metabolism disorder' 'Aceruloplasminemia' SubClassOf 'Metabolic disease with pigmentary retinitis' 'Aceruloplasminemia' SubClassOf 'Retinal dystrophy' 'Aceruloplasminemia' SubClassOf 'Neurodegeneration with brain iron accumulation' 'Aceruloplasminemia' SubClassOf 'Disorder of iron metabolism and transport' 'Aceruloplasminemia' SubClassOf 'Constitutional anemia due to iron metabolism disorder' 'Aceruloplasminemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004884 'Aceruloplasminemia' SubClassOf 'Metabolic disease with pigmentary retinitis' 'Aceruloplasminemia' SubClassOf 'Retinal dystrophy' 'Aceruloplasminemia' SubClassOf 'Neurodegeneration with brain iron accumulation' http://www.orpha.net/ORDO/Orphanet_34217 Naxos disease 'Naxos disease' SubClassOf 'Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature' 'Naxos disease' SubClassOf 'familial cardiomyopathy' 'Naxos disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100071 'Naxos disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018558 'Naxos disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016587 'Naxos disease' SubClassOf 'Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature' http://www.orpha.net/ORDO/Orphanet_263708 Complex chromosomal rearrangement 'Complex chromosomal rearrangement' SubClassOf 'Autosomal anomaly' 'Complex chromosomal rearrangement' SubClassOf 'Autosomal anomaly' http://www.ebi.ac.uk/efo/EFO_0000910 obsolete_thalamus 'obsolete_thalamus' SubClassOf 'obsolete class' 'obsolete_thalamus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000911 obsolete_diencephalon 'obsolete_diencephalon' SubClassOf 'obsolete class' 'obsolete_diencephalon' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_238750 4q21 microdeletion syndrome '4q21 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 4' '4q21 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 4' '4q21 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000761 http://www.ebi.ac.uk/efo/EFO_0000912 obsolete_telencephalon 'obsolete_telencephalon' SubClassOf 'obsolete class' 'obsolete_telencephalon' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000913 obsolete_frontal lobe 'obsolete_frontal lobe' SubClassOf 'obsolete class' 'obsolete_frontal lobe' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000914 obsolete_parietal lobe 'obsolete_parietal lobe' SubClassOf 'obsolete class' 'obsolete_parietal lobe' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000915 obsolete_occipital lobe 'obsolete_occipital lobe' SubClassOf 'obsolete class' 'obsolete_occipital lobe' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000916 obsolete_visual cortex 'obsolete_visual cortex' SubClassOf 'obsolete class' 'obsolete_visual cortex' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_238755 Autosomal dominant limb-girdle muscular dystrophy type 1H 'Autosomal dominant limb-girdle muscular dystrophy type 1H' SubClassOf 'Autosomal dominant limb-girdle muscular dystrophy' 'Autosomal dominant limb-girdle muscular dystrophy type 1H' SubClassOf 'Autosomal dominant limb-girdle muscular dystrophy' http://www.ebi.ac.uk/efo/EFO_0000917 obsolete_temporal lobe 'obsolete_temporal lobe' SubClassOf 'obsolete class' 'obsolete_temporal lobe' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000918 obsolete_epithalamus 'obsolete_epithalamus' SubClassOf 'obsolete class' 'obsolete_epithalamus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000919 obsolete_midbrain 'obsolete_midbrain' SubClassOf 'obsolete class' 'obsolete_midbrain' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_309515 Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation 'Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' SubClassOf 'Congenital disorder of glycosylation' 'Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' SubClassOf 'Disorder of lipid metabolism' 'Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' SubClassOf 'realized_in' some ('disease course' and ('has part' some 'glycosylation')) 'Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024321 'Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' SubClassOf 'Congenital disorder of glycosylation' http://purl.obolibrary.org/obo/UBERON_0003917 arthropod fat body 'arthropod fat body' SubClassOf 'adipose tissue' 'arthropod fat body' SubClassOf 'adipose tissue' http://www.ebi.ac.uk/efo/EFO_0000900 obsolete_dorsal root ganglion 'obsolete_dorsal root ganglion' SubClassOf 'obsolete class' 'obsolete_dorsal root ganglion' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000901 obsolete_body ganglion 'obsolete_body ganglion' SubClassOf 'obsolete class' 'obsolete_body ganglion' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000902 obsolete_cranial ganglion 'obsolete_cranial ganglion' SubClassOf 'obsolete class' 'obsolete_cranial ganglion' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_238763 Glaucoma secondary to spherophakia/ectopia lentis and megalocornea 'Glaucoma secondary to spherophakia/ectopia lentis and megalocornea' SubClassOf 'Hereditary glaucoma' 'Glaucoma secondary to spherophakia/ectopia lentis and megalocornea' SubClassOf http://purl.obolibrary.org/obo/MONDO_0009633 'Glaucoma secondary to spherophakia/ectopia lentis and megalocornea' SubClassOf 'Hereditary glaucoma' http://www.ebi.ac.uk/efo/EFO_0000903 obsolete_trigeminal ganglion 'obsolete_trigeminal ganglion' SubClassOf 'obsolete class' 'obsolete_trigeminal ganglion' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000904 obsolete_basal ganglion 'obsolete_basal ganglion' SubClassOf 'obsolete class' 'obsolete_basal ganglion' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000905 obsolete_globus pallidus 'obsolete_globus pallidus' SubClassOf 'obsolete class' 'obsolete_globus pallidus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_238766 Ptosis - syndactyly - learning difficulties 'Ptosis - syndactyly - learning difficulties' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Ptosis - syndactyly - learning difficulties' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Ptosis - syndactyly - learning difficulties' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Ptosis - syndactyly - learning difficulties' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 http://www.ebi.ac.uk/efo/EFO_0000906 obsolete_accumbens nucleus 'obsolete_accumbens nucleus' SubClassOf 'obsolete class' 'obsolete_accumbens nucleus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000907 obsolete_caudate nucleus 'obsolete_caudate nucleus' SubClassOf 'obsolete class' 'obsolete_caudate nucleus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000908 obsolete_central nervous system 'obsolete_central nervous system' SubClassOf 'obsolete class' 'obsolete_central nervous system' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_238769 1q44 microdeletion syndrome '1q44 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 1' '1q44 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 1' http://www.ebi.ac.uk/efo/EFO_0000909 obsolete_forebrain 'obsolete_forebrain' SubClassOf 'obsolete class' 'obsolete_forebrain' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_309526 Disorder of multiple glycosylation 'Disorder of multiple glycosylation' SubClassOf 'Congenital disorder of glycosylation' 'Disorder of multiple glycosylation' SubClassOf 'Congenital disorder of glycosylation' 'Disorder of multiple glycosylation' SubClassOf 'realized_in' some ('disease course' and ('has part' some 'glycosylation')) http://www.orpha.net/ORDO/Orphanet_280663 Hermansky-Pudlak syndrome type 9 'Hermansky-Pudlak syndrome type 9' SubClassOf 'Hermansky-Pudlak syndrome' 'Hermansky-Pudlak syndrome type 9' SubClassOf 'Immunodeficiency syndrome with hypopigmentation' 'Hermansky-Pudlak syndrome type 9' SubClassOf 'Hermansky-Pudlak syndrome' http://purl.obolibrary.org/obo/CHEBI_16010 5-oxoproline '5-oxoproline' SubClassOf 'chemical entity' '5-oxoproline' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CL_0000723 somatic stem cell 'somatic stem cell' SubClassOf 'capable of' some 'somatic stem cell division' 'somatic stem cell' EquivalentTo 'stem cell' and ('capable of' some 'somatic stem cell division') http://purl.obolibrary.org/obo/CHEBI_32979 (S)-3-phenyllactate '(S)-3-phenyllactate' SubClassOf 'chemical entity' '(S)-3-phenyllactate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_17347 testosterone 'testosterone' SubClassOf 'has_role' some 'hormone role' http://www.orpha.net/ORDO/Orphanet_79389 Premature aging 'Premature aging' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021147 'Premature aging' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Premature aging' SubClassOf 'skin disease' http://purl.obolibrary.org/obo/CHEBI_7798 oseltamivir 'oseltamivir' SubClassOf 'has_role' some 'antiviral' http://www.orpha.net/ORDO/Orphanet_79388 Mucopolysaccharidosis with skin involvement 'Mucopolysaccharidosis with skin involvement' SubClassOf 'Metabolic disease with skin involvement' 'Mucopolysaccharidosis with skin involvement' SubClassOf 'Metabolic disease with skin involvement' 'Mucopolysaccharidosis with skin involvement' SubClassOf 'Mucopolysaccharidosis' 'Mucopolysaccharidosis with skin involvement' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 http://www.orpha.net/ORDO/Orphanet_293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome 'Deficiency in anterior pituitary function-variable immunodeficiency syndrome' SubClassOf 'Other immunodeficiency syndrome with predominantly antibody defects' 'Deficiency in anterior pituitary function-variable immunodeficiency syndrome' SubClassOf 'Disease associated with non-acquired combined pituitary hormone deficiency' 'Deficiency in anterior pituitary function-variable immunodeficiency syndrome' SubClassOf 'Other immunodeficiency syndrome with predominantly antibody defects' 'Deficiency in anterior pituitary function-variable immunodeficiency syndrome' SubClassOf 'Disease associated with non-acquired combined pituitary hormone deficiency' 'Deficiency in anterior pituitary function-variable immunodeficiency syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0014260 http://www.orpha.net/ORDO/Orphanet_79385 Unclassified genetic skin disorder 'Unclassified genetic skin disorder' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Unclassified genetic skin disorder' SubClassOf 'skin disease' http://www.orpha.net/ORDO/Orphanet_79387 Metabolic disease with skin involvement 'Metabolic disease with skin involvement' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024297 'Metabolic disease with skin involvement' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Metabolic disease with skin involvement' SubClassOf 'metabolic disease' 'Metabolic disease with skin involvement' SubClassOf 'skin disease' http://www.orpha.net/ORDO/Orphanet_79383 Lymphedema 'Lymphedema' SubClassOf 'lymphatic system disease' http://www.orpha.net/ORDO/Orphanet_280671 Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect 'Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect' SubClassOf 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement' 'Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect' SubClassOf 'Congenital muscular dystrophy' 'Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect' SubClassOf 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement' 'Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect' SubClassOf 'Congenital muscular dystrophy' http://www.orpha.net/ORDO/Orphanet_280679 Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism 'Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism' SubClassOf 'Genetic central nervous system and retinal vascular disease' 'Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018792 'Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism' SubClassOf 'Moyamoya disease' 'Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007 http://purl.obolibrary.org/obo/CL_0000738 leukocyte 'leukocyte' SubClassOf 'located_in' some 'hematopoietic system' http://www.orpha.net/ORDO/Orphanet_293987 Rapid-onset childhood obesity - hypothalamic dysfunction - hypoventilation - autonomic dysregulation syndrome 'Rapid-onset childhood obesity - hypothalamic dysfunction - hypoventilation - autonomic dysregulation syndrome' SubClassOf 'Syndromic obesity' 'Rapid-onset childhood obesity - hypothalamic dysfunction - hypoventilation - autonomic dysregulation syndrome' SubClassOf 'Syndromic obesity' http://www.orpha.net/ORDO/Orphanet_79373 Ectodermal dysplasia syndrome 'Ectodermal dysplasia syndrome' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Ectodermal dysplasia syndrome' SubClassOf 'Genetic epidermal appendage anomaly' 'Ectodermal dysplasia syndrome' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Ectodermal dysplasia syndrome' SubClassOf 'Genetic epidermal appendage anomaly' 'Ectodermal dysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 http://www.orpha.net/ORDO/Orphanet_79370 Syndromic nail anomaly 'Syndromic nail anomaly' SubClassOf 'Genetic nail anomaly' 'Syndromic nail anomaly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Syndromic nail anomaly' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0019283 and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021127) 'Syndromic nail anomaly' SubClassOf 'Genetic nail anomaly' http://purl.obolibrary.org/obo/CHEBI_17368 hypoxanthine 'hypoxanthine' SubClassOf 'chemical entity' 'hypoxanthine' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_254351 Distal 7q11.23 microdeletion syndrome 'Distal 7q11.23 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 7' 'Distal 7q11.23 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 7' 'Distal 7q11.23 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000761 http://www.orpha.net/ORDO/Orphanet_79367 Syndromic hair shaft abnormality 'Syndromic hair shaft abnormality' SubClassOf 'Genetic hair anomaly' 'Syndromic hair shaft abnormality' SubClassOf 'Genetic hair anomaly' 'Syndromic hair shaft abnormality' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 http://www.orpha.net/ORDO/Orphanet_79366 Isolated hair shaft abnormality 'Isolated hair shaft abnormality' SubClassOf 'Genetic hair anomaly' 'Isolated hair shaft abnormality' SubClassOf 'Genetic hair anomaly' 'Isolated hair shaft abnormality' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021128 http://www.orpha.net/ORDO/Orphanet_79369 Isolated nail anomaly 'Isolated nail anomaly' SubClassOf 'Genetic nail anomaly' 'Isolated nail anomaly' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021128 'Isolated nail anomaly' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0002884 and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021128) and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) 'Isolated nail anomaly' SubClassOf 'Genetic nail anomaly' http://purl.obolibrary.org/obo/HP_0001310 Dysmetria 'Dysmetria' SubClassOf 'abnormality of brain morphology' 'Dysmetria' SubClassOf 'abnormality of brain morphology' http://www.orpha.net/ORDO/Orphanet_79365 Hypertrichosis 'Hypertrichosis' SubClassOf 'Genetic hair anomaly' 'Hypertrichosis' SubClassOf 'Genetic hair anomaly' http://www.orpha.net/ORDO/Orphanet_79364 Alopecia 'Alopecia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003037 'Alopecia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019278 http://www.orpha.net/ORDO/Orphanet_79361 Inherited epidermolysis bullosa 'Inherited epidermolysis bullosa' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019268 'Inherited epidermolysis bullosa' SubClassOf 'epidermolysis bullosa' 'Inherited epidermolysis bullosa' EquivalentTo 'epidermolysis bullosa' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) 'Inherited epidermolysis bullosa' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 http://www.orpha.net/ORDO/Orphanet_79360 Other genetic epidermal disease 'Other genetic epidermal disease' SubClassOf 'disease' 'Other genetic epidermal disease' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://purl.obolibrary.org/obo/CHEBI_17356 2-acetylaminofluorene '2-acetylaminofluorene' SubClassOf 'has_role' some 'mutagen' '2-acetylaminofluorene' SubClassOf 'has_role' some 'neurobehavioral manifestations' http://purl.obolibrary.org/obo/CHEBI_16020 1-methyladenosine '1-methyladenosine' SubClassOf 'chemical entity' '1-methyladenosine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_31638 fulvestrant 'fulvestrant' SubClassOf ('has_role' some 'antineoplastic agent') or ('has_role' some 'estrogen receptor antagonist role') http://purl.obolibrary.org/obo/HP_0001319 Neonatal hypotonia 'Neonatal hypotonia' SubClassOf 'Abnormality of muscle physiology' 'Neonatal hypotonia' SubClassOf 'Abnormality of muscle physiology' http://purl.obolibrary.org/obo/CHEBI_16027 adenosine 5'-monophosphate 'adenosine 5'-monophosphate' SubClassOf 'chemical entity' 'adenosine 5'-monophosphate' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_254361 Autosomal recessive limb-girdle muscular dystrophy type 2Q 'Autosomal recessive limb-girdle muscular dystrophy type 2Q' SubClassOf 'Qualitative or quantitative defects of plectin' 'Autosomal recessive limb-girdle muscular dystrophy type 2Q' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' 'Autosomal recessive limb-girdle muscular dystrophy type 2Q' SubClassOf 'Qualitative or quantitative defects of plectin' 'Autosomal recessive limb-girdle muscular dystrophy type 2Q' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' http://purl.obolibrary.org/obo/HP_0001324 Muscle weakness 'Muscle weakness' SubClassOf 'Abnormality of muscle physiology' 'Muscle weakness' SubClassOf 'Abnormality of muscle physiology' http://purl.obolibrary.org/obo/CL_0000763 myeloid cell 'myeloid cell' SubClassOf 'located_in' some 'hematopoietic system' http://www.orpha.net/ORDO/Orphanet_79357 Hereditary palmoplantar keratoderma 'Hereditary palmoplantar keratoderma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019268 'Hereditary palmoplantar keratoderma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 'Hereditary palmoplantar keratoderma' EquivalentTo 'palmoplantar keratosis' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) 'Hereditary palmoplantar keratoderma' SubClassOf 'palmoplantar keratosis' http://www.orpha.net/ORDO/Orphanet_79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form '3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form' SubClassOf 'Neurometabolic disorder due to serine deficiency' '3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 '3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018491 http://www.orpha.net/ORDO/Orphanet_268994 Isolated focal cortical dysplasia type II 'Isolated focal cortical dysplasia type II' SubClassOf 'Isolated focal cortical dysplasia' 'Isolated focal cortical dysplasia type II' SubClassOf 'Isolated focal cortical dysplasia' http://www.orpha.net/ORDO/Orphanet_79350 3-phosphoserine phosphatase deficiency '3-phosphoserine phosphatase deficiency' SubClassOf 'Neurometabolic disorder due to serine deficiency' '3-phosphoserine phosphatase deficiency' SubClassOf 'Neurometabolic disorder due to serine deficiency' '3-phosphoserine phosphatase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 http://www.orpha.net/ORDO/Orphanet_364803 Rare bone disease related to a common gene or pathway defect 'Rare bone disease related to a common gene or pathway defect' SubClassOf 'bone disease' 'Rare bone disease related to a common gene or pathway defect' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://www.orpha.net/ORDO/Orphanet_364820 TRPV4-related bone disorder 'TRPV4-related bone disorder' SubClassOf 'Rare bone disease related to a common gene or pathway defect' 'TRPV4-related bone disorder' SubClassOf 'Rare bone disease related to a common gene or pathway defect' http://www.orpha.net/ORDO/Orphanet_280620 Progressive myoclonic epilepsy type 6 'Progressive myoclonic epilepsy type 6' SubClassOf 'Progressive myoclonic epilepsy' 'Progressive myoclonic epilepsy type 6' SubClassOf 'Progressive myoclonic epilepsy' http://purl.obolibrary.org/obo/CHEBI_17306 maltose 'maltose' SubClassOf 'carbohydrate' 'maltose' SubClassOf 'carbohydrate' http://purl.obolibrary.org/obo/CL_0000765 erythroblast 'erythroblast' SubClassOf 'located_in' some 'hematopoietic system' http://www.orpha.net/ORDO/Orphanet_280628 Familial progressive hyper- and hypopigmentation 'Familial progressive hyper- and hypopigmentation' SubClassOf 'Genetic pigmentation anomaly of the skin' 'Familial progressive hyper- and hypopigmentation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0007771 http://purl.obolibrary.org/obo/CHEBI_17303 morphine 'morphine' SubClassOf 'has_role' some 'drug role' http://www.orpha.net/ORDO/Orphanet_293936 EDICT syndrome 'EDICT syndrome' SubClassOf 'Syndromic keratoconus' 'EDICT syndrome' SubClassOf 'Syndromic keratoconus' http://www.orpha.net/ORDO/Orphanet_293939 Distal Xq28 microduplication syndrome 'Distal Xq28 microduplication syndrome' SubClassOf 'Partial duplication of the long arm of chromosome X' 'Distal Xq28 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Distal Xq28 microduplication syndrome' SubClassOf 'Partial duplication of the long arm of chromosome X' 'Distal Xq28 microduplication syndrome' SubClassOf 'Rare genetic neurological disorder' 'Distal Xq28 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 http://www.orpha.net/ORDO/Orphanet_364817 Aggrecan-related bone disorder 'Aggrecan-related bone disorder' SubClassOf 'Rare bone disease related to a common gene or pathway defect' 'Aggrecan-related bone disorder' SubClassOf 'Rare bone disease related to a common gene or pathway defect' http://purl.obolibrary.org/obo/CHEBI_44915 propofol 'propofol' SubClassOf 'has_role' some 'anticonvulsant' 'propofol' SubClassOf 'has_role' some 'antiemetic' 'propofol' SubClassOf 'has_role' some 'intravenous anaesthetic' 'propofol' SubClassOf 'has_role' some 'sedative drug' http://www.orpha.net/ORDO/Orphanet_280633 Multiple congenital anomalies - hypotonia - seizures syndrome 'Multiple congenital anomalies - hypotonia - seizures syndrome' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' 'Multiple congenital anomalies - hypotonia - seizures syndrome' SubClassOf 'Congenital disorder of glycosylation with developmental anomaly' 'Multiple congenital anomalies - hypotonia - seizures syndrome' SubClassOf 'Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' 'Multiple congenital anomalies - hypotonia - seizures syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Multiple congenital anomalies - hypotonia - seizures syndrome' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'Multiple congenital anomalies - hypotonia - seizures syndrome' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' 'Multiple congenital anomalies - hypotonia - seizures syndrome' SubClassOf 'Congenital disorder of glycosylation with developmental anomaly' 'Multiple congenital anomalies - hypotonia - seizures syndrome' SubClassOf 'Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' 'Multiple congenital anomalies - hypotonia - seizures syndrome' SubClassOf 'Rare syndromic dyslipidemia' 'Multiple congenital anomalies - hypotonia - seizures syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Multiple congenital anomalies - hypotonia - seizures syndrome' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'Multiple congenital anomalies - hypotonia - seizures syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 http://purl.obolibrary.org/obo/CL_0000777 mesangial phagocyte 'mesangial phagocyte' SubClassOf 'located_in' some 'renal system' http://purl.obolibrary.org/obo/UO_0000126 derived temperature unit 'derived temperature unit' SubClassOf 'is_unit_of' some 'temperature' http://purl.obolibrary.org/obo/CL_0000784 plasmacytoid dendritic cell 'plasmacytoid dendritic cell' SubClassOf 'located_in' some 'hematopoietic system' http://purl.obolibrary.org/obo/CHEBI_6437 levetiracetam 'levetiracetam' SubClassOf 'has_role' some 'drug role' http://www.orpha.net/ORDO/Orphanet_293948 1p21.3 microdeletion syndrome '1p21.3 microdeletion syndrome' SubClassOf 'Rare disease with autism' '1p21.3 microdeletion syndrome' SubClassOf 'Partial deletion of the short arm of chromosome 1' '1p21.3 microdeletion syndrome' SubClassOf 'Rare disease with autism' '1p21.3 microdeletion syndrome' SubClassOf 'Partial deletion of the short arm of chromosome 1' '1p21.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 '1p21.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 http://www.orpha.net/ORDO/Orphanet_280640 Occipital pachygyria and polymicrogyria 'Occipital pachygyria and polymicrogyria' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015572 http://purl.obolibrary.org/obo/CL_0000786 plasma cell 'plasma cell' SubClassOf 'located_in' some 'blood' http://purl.obolibrary.org/obo/CHEBI_17325 3-hydroxy-3-methylglutarate(2-) '3-hydroxy-3-methylglutarate(2-)' SubClassOf 'chemical entity' '3-hydroxy-3-methylglutarate(2-)' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_5118 fluoxetine 'fluoxetine' SubClassOf 'has_role' some 'antidepressant' http://www.orpha.net/ORDO/Orphanet_293958 Hypertelorism-preauricular sinus-punctual pits-deafness syndrome 'Hypertelorism-preauricular sinus-punctual pits-deafness syndrome' SubClassOf 'Syndromic genetic deafness' 'Hypertelorism-preauricular sinus-punctual pits-deafness syndrome' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_293955 Childhood encephalopathy due to thiamine pyrophosphokinase deficiency 'Childhood encephalopathy due to thiamine pyrophosphokinase deficiency' SubClassOf 'Disorder of thiamine metabolism and transport' 'Childhood encephalopathy due to thiamine pyrophosphokinase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000152 http://www.orpha.net/ORDO/Orphanet_280651 Acrodysostosis with multiple hormone resistance 'Acrodysostosis with multiple hormone resistance' SubClassOf 'Acrofacial dysostosis' 'Acrodysostosis with multiple hormone resistance' SubClassOf 'Mandibulofacial dysostosis' 'Acrodysostosis with multiple hormone resistance' SubClassOf 'Acrofacial dysostosis' 'Acrodysostosis with multiple hormone resistance' SubClassOf 'Mandibulofacial dysostosis' 'Acrodysostosis with multiple hormone resistance' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015126 'Acrodysostosis with multiple hormone resistance' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 http://www.orpha.net/ORDO/Orphanet_363523 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome 'Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome' SubClassOf 'Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature' 'Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020014 'Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome' SubClassOf 'Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature' http://www.orpha.net/ORDO/Orphanet_293964 Hypoinsulinemic hypoglycemia and body hemihypertrophy 'Hypoinsulinemic hypoglycemia and body hemihypertrophy' SubClassOf 'Overgrowth syndrome' 'Hypoinsulinemic hypoglycemia and body hemihypertrophy' SubClassOf 'Overgrowth syndrome' 'Hypoinsulinemic hypoglycemia and body hemihypertrophy' SubClassOf 'endocrine system disease' http://www.orpha.net/ORDO/Orphanet_79399 Generalized epidermolysis bullosa simplex, non-Dowling-Meara type 'Generalized epidermolysis bullosa simplex, non-Dowling-Meara type' SubClassOf 'Basal epidermolysis bullosa simplex' 'Generalized epidermolysis bullosa simplex, non-Dowling-Meara type' SubClassOf 'Basal epidermolysis bullosa simplex' http://www.orpha.net/ORDO/Orphanet_293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome 'Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome' SubClassOf 'Syndromic genetic deafness' 'Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome' SubClassOf 'Syndrome with microcephaly as major feature' 'Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome' SubClassOf 'Rare disorder with hypogonadotropic hypogonadism' 'Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome' SubClassOf 'Rare disorder with hypogonadotropic hypogonadism' 'Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome' SubClassOf 'Syndrome with microcephaly as major feature' 'Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_79396 Epidermolysis bullosa simplex, Dowling-Meara type 'Epidermolysis bullosa simplex, Dowling-Meara type' SubClassOf 'Basal epidermolysis bullosa simplex' 'Epidermolysis bullosa simplex, Dowling-Meara type' SubClassOf 'Basal epidermolysis bullosa simplex' http://www.orpha.net/ORDO/Orphanet_79395 Keratoderma hereditarium mutilans with ichthyosis 'Keratoderma hereditarium mutilans with ichthyosis' SubClassOf 'Autosomal dominant diffuse mutilating palmoplantar keratoderma' 'Keratoderma hereditarium mutilans with ichthyosis' SubClassOf 'Inherited non-syndromic ichthyosis' 'Keratoderma hereditarium mutilans with ichthyosis' SubClassOf 'Autosomal dominant isolated diffuse palmoplantar keratoderma' 'Keratoderma hereditarium mutilans with ichthyosis' SubClassOf 'Autosomal dominant diffuse mutilating palmoplantar keratoderma' 'Keratoderma hereditarium mutilans with ichthyosis' SubClassOf 'Inherited non-syndromic ichthyosis' http://www.orpha.net/ORDO/Orphanet_79397 Epidermolysis bullosa simplex with mottled pigmentation 'Epidermolysis bullosa simplex with mottled pigmentation' SubClassOf 'Basal epidermolysis bullosa simplex' 'Epidermolysis bullosa simplex with mottled pigmentation' SubClassOf 'Basal epidermolysis bullosa simplex' http://www.orpha.net/ORDO/Orphanet_79394 Congenital non-bullous ichthyosiform erythroderma 'Congenital non-bullous ichthyosiform erythroderma' SubClassOf 'Autosomal recessive congenital ichthyosis' 'Congenital non-bullous ichthyosiform erythroderma' SubClassOf 'Autosomal recessive congenital ichthyosis' http://www.orpha.net/ORDO/Orphanet_228003 Severe combined immunodeficiency due to CORO1A deficiency 'Severe combined immunodeficiency due to CORO1A deficiency' SubClassOf 'T-B+ severe combined immunodeficiency' 'Severe combined immunodeficiency due to CORO1A deficiency' SubClassOf 'T-B+ severe combined immunodeficiency' http://www.orpha.net/ORDO/Orphanet_349 Fucosidosis 'Fucosidosis' SubClassOf 'Oligosaccharidosis' 'Fucosidosis' SubClassOf 'Lysosomal disease with hypertrophic cardiomyopathy' 'Fucosidosis' SubClassOf 'Lysosomal storage disease with skeletal involvement' 'Fucosidosis' SubClassOf 'Oligosaccharidosis' 'Fucosidosis' SubClassOf 'Lysosomal disease with hypertrophic cardiomyopathy' 'Fucosidosis' SubClassOf 'Lysosomal storage disease with skeletal involvement' http://www.orpha.net/ORDO/Orphanet_348 Fructose-1,6-bisphosphatase deficiency 'Fructose-1,6-bisphosphatase deficiency' SubClassOf 'Disorder of fructose metabolism' 'Fructose-1,6-bisphosphatase deficiency' SubClassOf 'Gluconeogenesis disorder' 'Fructose-1,6-bisphosphatase deficiency' SubClassOf 'Disorder of carbohydrate metabolism' 'Fructose-1,6-bisphosphatase deficiency' SubClassOf 'Disorder of fructose metabolism' 'Fructose-1,6-bisphosphatase deficiency' SubClassOf 'Gluconeogenesis disorder' http://www.orpha.net/ORDO/Orphanet_347 Frasier syndrome 'Frasier syndrome' SubClassOf 'Syndrome with disorder of sex development of gynecological interest' 'Frasier syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Frasier syndrome' SubClassOf 'Syndrome with 46,XY disorder of sex development' 'Frasier syndrome' SubClassOf 'Primary glomerular disease' 'Frasier syndrome' SubClassOf 'Syndrome with disorder of sex development of gynecological interest' 'Frasier syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 'Frasier syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Frasier syndrome' SubClassOf 'Syndrome with 46,XY disorder of sex development' 'Frasier syndrome' SubClassOf 'Primary glomerular disease' http://www.orpha.net/ORDO/Orphanet_169189 Autosomal dominant centronuclear myopathy 'Autosomal dominant centronuclear myopathy' SubClassOf 'Centronuclear myopathy' 'Autosomal dominant centronuclear myopathy' SubClassOf 'Centronuclear myopathy' 'Autosomal dominant centronuclear myopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 'Autosomal dominant centronuclear myopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002921 http://www.orpha.net/ORDO/Orphanet_169186 Autosomal recessive centronuclear myopathy 'Autosomal recessive centronuclear myopathy' SubClassOf 'Centronuclear myopathy' 'Autosomal recessive centronuclear myopathy' SubClassOf 'Qualitative or quantitative defects of titin' 'Autosomal recessive centronuclear myopathy' SubClassOf 'Centronuclear myopathy' 'Autosomal recessive centronuclear myopathy' SubClassOf 'Qualitative or quantitative defects of titin' 'Autosomal recessive centronuclear myopathy' SubClassOf 'autosomal recessive disease' http://www.orpha.net/ORDO/Orphanet_183490 Genetic photodermatosis 'Genetic photodermatosis' SubClassOf 'skin disease' 'Genetic photodermatosis' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://www.orpha.net/ORDO/Orphanet_343 Hyperimmunoglobulinemia D with periodic fever 'Hyperimmunoglobulinemia D with periodic fever' SubClassOf 'Hereditary periodic fever syndrome' 'Hyperimmunoglobulinemia D with periodic fever' SubClassOf 'Autoinflammatory syndrome with immune deficiency' 'Hyperimmunoglobulinemia D with periodic fever' SubClassOf 'Mevalonate kinase deficiency' 'Hyperimmunoglobulinemia D with periodic fever' SubClassOf 'Autoinflammatory syndrome with immune deficiency' 'Hyperimmunoglobulinemia D with periodic fever' SubClassOf 'Mevalonate kinase deficiency' http://www.orpha.net/ORDO/Orphanet_342 Familial Mediterranean fever 'Familial Mediterranean fever' SubClassOf 'Autoinflammatory syndrome with immune deficiency' 'Familial Mediterranean fever' SubClassOf 'Hereditary periodic fever syndrome' 'Familial Mediterranean fever' SubClassOf 'Autoinflammatory syndrome with immune deficiency' 'Familial Mediterranean fever' SubClassOf 'Hereditary periodic fever syndrome' 'Familial Mediterranean fever' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019724 http://www.orpha.net/ORDO/Orphanet_183494 Genetic immune deficiency with skin involvement 'Genetic immune deficiency with skin involvement' SubClassOf 'immune system disease' 'Genetic immune deficiency with skin involvement' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Genetic immune deficiency with skin involvement' SubClassOf 'skin disease' http://www.orpha.net/ORDO/Orphanet_183497 Genetic neuromuscular disease 'Genetic neuromuscular disease' SubClassOf 'has_disease_location' some 'skeletal muscle organ' http://www.orpha.net/ORDO/Orphanet_268943 Unilateral polymicrogyria 'Unilateral polymicrogyria' SubClassOf 'Polymicrogyria' 'Unilateral polymicrogyria' SubClassOf 'Polymicrogyria' http://www.orpha.net/ORDO/Orphanet_79 Congenital alpha2 antiplasmin deficiency 'Congenital alpha2 antiplasmin deficiency' SubClassOf 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' 'Congenital alpha2 antiplasmin deficiency' SubClassOf 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' http://www.orpha.net/ORDO/Orphanet_268940 Bilateral polymicrogyria 'Bilateral polymicrogyria' SubClassOf 'Polymicrogyria' 'Bilateral polymicrogyria' SubClassOf 'Polymicrogyria' http://www.orpha.net/ORDO/Orphanet_268947 Unilateral focal polymicrogyria 'Unilateral focal polymicrogyria' SubClassOf 'Unilateral polymicrogyria' 'Unilateral focal polymicrogyria' SubClassOf 'Unilateral polymicrogyria' http://purl.obolibrary.org/obo/HP_0000044 Hypogonadotrophic hypogonadism 'Hypogonadotrophic hypogonadism' SubClassOf 'Abnormality of the endocrine system' 'Hypogonadotrophic hypogonadism' SubClassOf 'Abnormality of the endocrine system' http://www.orpha.net/ORDO/Orphanet_70 Proximal spinal muscular atrophy 'Proximal spinal muscular atrophy' SubClassOf 'Genetic peripheral neuropathy' 'Proximal spinal muscular atrophy' SubClassOf 'spinal muscular atrophy' 'Proximal spinal muscular atrophy' SubClassOf 'spinal muscular atrophy' http://www.orpha.net/ORDO/Orphanet_71 Chylomicron retention disease 'Chylomicron retention disease' SubClassOf 'Hypobetalipoproteinemia' 'Chylomicron retention disease' SubClassOf 'Genetic intestinal disease due to fat malabsorption' 'Chylomicron retention disease' SubClassOf 'Hypobetalipoproteinemia' 'Chylomicron retention disease' SubClassOf 'Genetic intestinal disease due to fat malabsorption' 'Chylomicron retention disease' SubClassOf 'Metabolic disease with intestinal involvement' http://www.orpha.net/ORDO/Orphanet_72 Angelman syndrome 'Angelman syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020016 'Angelman syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015652 'Angelman syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 http://www.orpha.net/ORDO/Orphanet_73 Gorham-Stout disease 'Gorham-Stout disease' SubClassOf 'Congenital vascular bone syndrome' 'Gorham-Stout disease' SubClassOf 'Congenital vascular bone syndrome' 'Gorham-Stout disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016569 'Gorham-Stout disease' SubClassOf 'rheumatic disease' http://www.orpha.net/ORDO/Orphanet_228000 Idiopathic CD4 lymphocytopenia 'Idiopathic CD4 lymphocytopenia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018814 http://www.orpha.net/ORDO/Orphanet_77 Aniridia 'Aniridia' SubClassOf 'Major induction processes eye anomaly' 'Aniridia' SubClassOf 'Major induction processes eye anomaly' 'Aniridia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002289 http://www.orpha.net/ORDO/Orphanet_359 Hereditary glaucoma 'Hereditary glaucoma' EquivalentTo 'glaucoma' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) 'Hereditary glaucoma' SubClassOf 'glaucoma' 'Hereditary glaucoma' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_358 Gitelman syndrome 'Gitelman syndrome' SubClassOf 'Genetic renal tubular disease' 'Gitelman syndrome' SubClassOf 'Genetic renal tubular disease' 'Gitelman syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Gitelman syndrome' SubClassOf 'renal tubular transport disease' http://www.orpha.net/ORDO/Orphanet_356 Gerstmann-Straussler-Scheinker syndrome 'Gerstmann-Straussler-Scheinker syndrome' SubClassOf 'Genetic dementia' 'Gerstmann-Straussler-Scheinker syndrome' SubClassOf 'mental or behavioural disorder' 'Gerstmann-Straussler-Scheinker syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017234 'Gerstmann-Straussler-Scheinker syndrome' SubClassOf 'mental or behavioural disorder' 'Gerstmann-Straussler-Scheinker syndrome' SubClassOf 'has_disease_location' some ('brain' or ('part_of' some 'brain')) http://www.orpha.net/ORDO/Orphanet_355 Gaucher disease 'Gaucher disease' SubClassOf 'Oculomotor apraxia or related oculomotor disease' 'Gaucher disease' SubClassOf 'Sphingolipidosis' 'Gaucher disease' SubClassOf 'Metabolic disease with corneal opacity' 'Gaucher disease' SubClassOf 'Oculomotor apraxia or related oculomotor disease' 'Gaucher disease' SubClassOf 'Sphingolipidosis' 'Gaucher disease' SubClassOf 'Metabolic disease with corneal opacity' 'Gaucher disease' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_354 GM1 gangliosidosis 'GM1 gangliosidosis' SubClassOf 'Lysosomal storage disease with skeletal involvement' 'GM1 gangliosidosis' SubClassOf 'Metabolic disease with macular cherry-red spot' 'GM1 gangliosidosis' SubClassOf 'Neurometabolic disease' 'GM1 gangliosidosis' SubClassOf 'Nervous system anomaly with eye involvement' 'GM1 gangliosidosis' SubClassOf 'Unclassified primitive or secondary maculopathy' 'GM1 gangliosidosis' SubClassOf 'Gangliosidosis' 'GM1 gangliosidosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044976 'GM1 gangliosidosis' SubClassOf 'Lysosomal storage disease with skeletal involvement' 'GM1 gangliosidosis' SubClassOf 'Metabolic disease with macular cherry-red spot' 'GM1 gangliosidosis' SubClassOf 'Neurometabolic disease' 'GM1 gangliosidosis' SubClassOf 'Nervous system anomaly with eye involvement' 'GM1 gangliosidosis' SubClassOf 'Unclassified primitive or secondary maculopathy' 'GM1 gangliosidosis' SubClassOf 'Gangliosidosis' http://www.orpha.net/ORDO/Orphanet_353 Autosomal recessive limb-girdle muscular dystrophy type 2C 'Autosomal recessive limb-girdle muscular dystrophy type 2C' SubClassOf 'Qualitative or quantitative defects of gamma-sarcoglycan' 'Autosomal recessive limb-girdle muscular dystrophy type 2C' SubClassOf 'Neuromuscular disease with dilated cardiomyopathy' 'Autosomal recessive limb-girdle muscular dystrophy type 2C' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' 'Autosomal recessive limb-girdle muscular dystrophy type 2C' SubClassOf 'Qualitative or quantitative defects of gamma-sarcoglycan' 'Autosomal recessive limb-girdle muscular dystrophy type 2C' SubClassOf 'Neuromuscular disease with dilated cardiomyopathy' 'Autosomal recessive limb-girdle muscular dystrophy type 2C' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' http://www.orpha.net/ORDO/Orphanet_352 Galactosemia 'Galactosemia' SubClassOf 'Cataract associated with a metabolic disease' 'Galactosemia' SubClassOf 'Metabolic disease with cataract' 'Galactosemia' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'Galactosemia' SubClassOf 'Disorder of galactose metabolism' 'Galactosemia' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'Galactosemia' SubClassOf 'Metabolic disease with cataract' 'Galactosemia' SubClassOf 'Cataract associated with a metabolic disease' 'Galactosemia' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'Galactosemia' SubClassOf 'Disorder of galactose metabolism' 'Galactosemia' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_351 Galactosialidosis 'Galactosialidosis' SubClassOf 'Unclassified primitive or secondary maculopathy' 'Galactosialidosis' SubClassOf 'Lysosomal storage disease with skeletal involvement' 'Galactosialidosis' SubClassOf 'Metabolic disease with corneal opacity' 'Galactosialidosis' SubClassOf 'Oligosaccharidosis' 'Galactosialidosis' SubClassOf 'Neurometabolic disease' 'Galactosialidosis' SubClassOf 'Metabolic disease with macular cherry-red spot' 'Galactosialidosis' SubClassOf 'Unclassified primitive or secondary maculopathy' 'Galactosialidosis' SubClassOf 'Lysosomal storage disease with skeletal involvement' 'Galactosialidosis' SubClassOf 'Metabolic disease with corneal opacity' 'Galactosialidosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Galactosialidosis' SubClassOf 'Oligosaccharidosis' 'Galactosialidosis' SubClassOf 'Neurometabolic disease' 'Galactosialidosis' SubClassOf 'Metabolic disease with macular cherry-red spot' http://www.orpha.net/ORDO/Orphanet_217340 17q21.31 microduplication syndrome '17q21.31 microduplication syndrome' SubClassOf 'Partial duplication of the long arm of chromosome 17' '17q21.31 microduplication syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '17q21.31 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 '17q21.31 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 '17q21.31 microduplication syndrome' SubClassOf 'Rare genetic neurological disorder' '17q21.31 microduplication syndrome' SubClassOf 'Partial duplication of the long arm of chromosome 17' '17q21.31 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000762 '17q21.31 microduplication syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_268926 Midline cerebral malformation 'Midline cerebral malformation' SubClassOf 'Rare genetic neurological disorder' 'Midline cerebral malformation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016054 http://purl.obolibrary.org/obo/CHEBI_7719 ochratoxin A 'ochratoxin A' SubClassOf ('has_role' some 'cardiovascular drug') or ('has_role' some 'calcium channel blocker') http://www.orpha.net/ORDO/Orphanet_217346 19q13.11 microdeletion syndrome '19q13.11 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 19' '19q13.11 microdeletion syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '19q13.11 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 19' '19q13.11 microdeletion syndrome' SubClassOf 'Rare genetic neurological disorder' '19q13.11 microdeletion syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '19q13.11 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 '19q13.11 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 '19q13.11 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000761 http://purl.obolibrary.org/obo/NCBITaxon_1290391 Botrytis cinerea BcDW1 'Botrytis cinerea BcDW1' SubClassOf 'Botrytis cinerea' 'Botrytis cinerea BcDW1' SubClassOf 'Botrytis cinerea' http://purl.obolibrary.org/obo/HP_0000054 Micropenis 'Micropenis' SubClassOf 'Phenotypic abnormality' 'Micropenis' SubClassOf 'Phenotypic abnormality' http://purl.obolibrary.org/obo/HP_0001382 Joint hypermobility 'Joint hypermobility' SubClassOf 'abnormality of the skeletal system' 'Joint hypermobility' SubClassOf 'abnormality of the skeletal system' http://www.orpha.net/ORDO/Orphanet_83 Antley-Bixler syndrome 'Antley-Bixler syndrome' SubClassOf 'Syndromic craniosynostosis' 'Antley-Bixler syndrome' SubClassOf 'Syndromic craniosynostosis' 'Antley-Bixler syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0011679 'Antley-Bixler syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007 http://www.orpha.net/ORDO/Orphanet_84 Fanconi anemia 'Fanconi anemia' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Fanconi anemia' SubClassOf 'Genetic syndrome with limb reduction defects' 'Fanconi anemia' SubClassOf 'Hematological disorder with renal involvement' 'Fanconi anemia' SubClassOf 'Genetic hyperpigmentation of the skin' 'Fanconi anemia' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Fanconi anemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 'Fanconi anemia' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Fanconi anemia' SubClassOf 'Inborn errors of metabolism' 'Fanconi anemia' SubClassOf 'Developmental anomaly of metabolic origin' 'Fanconi anemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000577 'Fanconi anemia' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' 'Fanconi anemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001713 'Fanconi anemia' SubClassOf 'Hematological disorder with renal involvement' 'Fanconi anemia' SubClassOf 'Genetic syndrome with limb reduction defects' 'Fanconi anemia' SubClassOf 'Genetic hyperpigmentation of the skin' 'Fanconi anemia' SubClassOf 'DNA repair deficiency' 'Fanconi anemia' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_85 Congenital dyserythropoietic anemia 'Congenital dyserythropoietic anemia' SubClassOf 'Constitutional dyserythropoietic anemia' 'Congenital dyserythropoietic anemia' SubClassOf 'Constitutional dyserythropoietic anemia' 'Congenital dyserythropoietic anemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003689 http://www.orpha.net/ORDO/Orphanet_86 Familial abdominal aortic aneurysm 'Familial abdominal aortic aneurysm' SubClassOf 'Abdominal Aortic Aneurysm' 'Familial abdominal aortic aneurysm' EquivalentTo 'Abdominal Aortic Aneurysm' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) 'Familial abdominal aortic aneurysm' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Familial abdominal aortic aneurysm' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003847 http://www.orpha.net/ORDO/Orphanet_87 Apert syndrome 'Apert syndrome' SubClassOf 'Craniostenosis associated with a strabismus' 'Apert syndrome' SubClassOf 'Pierre Robin syndrome associated with bone disease' 'Apert syndrome' SubClassOf 'Acrocephalosyndactyly' 'Apert syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Apert syndrome' SubClassOf 'Craniostenosis associated with a strabismus' 'Apert syndrome' SubClassOf 'Pierre Robin syndrome associated with bone disease' 'Apert syndrome' SubClassOf 'Rare genetic neurological disorder' 'Apert syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 'Apert syndrome' SubClassOf 'Acrocephalosyndactyly' http://www.orpha.net/ORDO/Orphanet_314588 Distal tetrasomy 15q 'Distal tetrasomy 15q' SubClassOf '15q overgrowth syndrome' 'Distal tetrasomy 15q' SubClassOf '15q overgrowth syndrome' http://www.orpha.net/ORDO/Orphanet_231679 Isolated growth hormone deficiency type II 'Isolated growth hormone deficiency type II' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000050 http://www.orpha.net/ORDO/Orphanet_314585 15q overgrowth syndrome '15q overgrowth syndrome' SubClassOf 'Partial duplication of the long arm of chromosome 15' '15q overgrowth syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '15q overgrowth syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020226 '15q overgrowth syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 '15q overgrowth syndrome' SubClassOf 'Partial duplication of the long arm of chromosome 15' '15q overgrowth syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '15q overgrowth syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019717 http://www.orpha.net/ORDO/Orphanet_367 Glycogen storage disease due to glycogen branching enzyme deficiency 'Glycogen storage disease due to glycogen branching enzyme deficiency' SubClassOf 'Muscular glycogenosis' 'Glycogen storage disease due to glycogen branching enzyme deficiency' SubClassOf 'Familial dilated cardiomyopathy' 'Glycogen storage disease due to glycogen branching enzyme deficiency' SubClassOf 'Glycogen storage disease' 'Glycogen storage disease due to glycogen branching enzyme deficiency' SubClassOf 'Muscular glycogenosis' 'Glycogen storage disease due to glycogen branching enzyme deficiency' SubClassOf 'Familial dilated cardiomyopathy' 'Glycogen storage disease due to glycogen branching enzyme deficiency' SubClassOf 'Glycogen storage disease' http://www.orpha.net/ORDO/Orphanet_366 Glycogen storage disease due to glycogen debranching enzyme deficiency 'Glycogen storage disease due to glycogen debranching enzyme deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024573 http://www.orpha.net/ORDO/Orphanet_365 Glycogen storage disease due to acid maltase deficiency 'Glycogen storage disease due to acid maltase deficiency' SubClassOf 'Lysosomal disease with hypertrophic cardiomyopathy' 'Glycogen storage disease due to acid maltase deficiency' SubClassOf 'Muscular glycogenosis' 'Glycogen storage disease due to acid maltase deficiency' SubClassOf 'Glycogen storage disease' 'Glycogen storage disease due to acid maltase deficiency' SubClassOf 'Lysosomal glycogen storage disease' 'Glycogen storage disease due to acid maltase deficiency' SubClassOf 'Lysosomal disease with restrictive cardiomyopathy' 'Glycogen storage disease due to acid maltase deficiency' SubClassOf 'Glycogen storage disease with hypertrophic cardiomyopathy' 'Glycogen storage disease due to acid maltase deficiency' SubClassOf 'Muscular glycogenosis' 'Glycogen storage disease due to acid maltase deficiency' SubClassOf 'Lysosomal disease with hypertrophic cardiomyopathy' 'Glycogen storage disease due to acid maltase deficiency' SubClassOf 'Glycogen storage disease' 'Glycogen storage disease due to acid maltase deficiency' SubClassOf 'Lysosomal glycogen storage disease' 'Glycogen storage disease due to acid maltase deficiency' SubClassOf 'Lysosomal disease with restrictive cardiomyopathy' 'Glycogen storage disease due to acid maltase deficiency' SubClassOf 'Glycogen storage disease with hypertrophic cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_364 Glycogen storage disease due to glucose-6-phosphatase deficiency 'Glycogen storage disease due to glucose-6-phosphatase deficiency' SubClassOf 'Glycogen storage disease' 'Glycogen storage disease due to glucose-6-phosphatase deficiency' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'Glycogen storage disease due to glucose-6-phosphatase deficiency' SubClassOf 'Glycogen storage disease' 'Glycogen storage disease due to glucose-6-phosphatase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044976 'Glycogen storage disease due to glucose-6-phosphatase deficiency' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' http://www.orpha.net/ORDO/Orphanet_217371 Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins 'Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000023 http://www.orpha.net/ORDO/Orphanet_231671 Isolated growth hormone deficiency type IB 'Isolated growth hormone deficiency type IB' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000050 http://www.orpha.net/ORDO/Orphanet_361 Familial glucocorticoid deficiency 'Familial glucocorticoid deficiency' SubClassOf 'Genetic chronic primary adrenal insufficiency' 'Familial glucocorticoid deficiency' SubClassOf 'Genetic chronic primary adrenal insufficiency' 'Familial glucocorticoid deficiency' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://www.orpha.net/ORDO/Orphanet_293910 Familial isolated arrhythmogenic ventricular dysplasia, right dominant form 'Familial isolated arrhythmogenic ventricular dysplasia, right dominant form' SubClassOf 'Familial isolated arrhythmogenic right ventricular dysplasia' 'Familial isolated arrhythmogenic ventricular dysplasia, right dominant form' SubClassOf 'Familial isolated arrhythmogenic right ventricular dysplasia' http://www.orpha.net/ORDO/Orphanet_56 Alkaptonuria 'Alkaptonuria' SubClassOf 'Metabolic disease with skin involvement' 'Alkaptonuria' SubClassOf 'Pigmented conjunctival lesion' 'Alkaptonuria' SubClassOf 'Disorder of tyrosine metabolism' 'Alkaptonuria' SubClassOf 'Pigmented conjunctival lesion' 'Alkaptonuria' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019252 'Alkaptonuria' SubClassOf 'Disorder of tyrosine metabolism' 'Alkaptonuria' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 http://www.orpha.net/ORDO/Orphanet_57 Glycogen storage disease due to aldolase A deficiency 'Glycogen storage disease due to aldolase A deficiency' SubClassOf 'Glycogen storage disease' 'Glycogen storage disease due to aldolase A deficiency' SubClassOf 'Hemolytic anemia due to a disorder of glycolytic enzymes' 'Glycogen storage disease due to aldolase A deficiency' SubClassOf 'Glycogen storage disease' 'Glycogen storage disease due to aldolase A deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003689 'Glycogen storage disease due to aldolase A deficiency' SubClassOf 'Hemolytic anemia due to a disorder of glycolytic enzymes' 'Glycogen storage disease due to aldolase A deficiency' SubClassOf 'Disorder of glycolysis' http://www.orpha.net/ORDO/Orphanet_183469 Genetic hypopigmentation of the skin 'Genetic hypopigmentation of the skin' SubClassOf 'Genetic pigmentation anomaly of the skin' 'Genetic hypopigmentation of the skin' SubClassOf 'Genetic pigmentation anomaly of the skin' http://www.orpha.net/ORDO/Orphanet_58 Alexander disease 'Alexander disease' SubClassOf 'Abnormal eye movements' 'Alexander disease' SubClassOf 'Genetic neurodegenerative disease' 'Alexander disease' SubClassOf 'Leukodystrophy' 'Alexander disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004884 'Alexander disease' SubClassOf 'Abnormal eye movements' 'Alexander disease' SubClassOf 'Genetic neurodegenerative disease' 'Alexander disease' SubClassOf 'Leukodystrophy' http://www.orpha.net/ORDO/Orphanet_59 Allan-Herndon-Dudley syndrome 'Allan-Herndon-Dudley syndrome' SubClassOf 'Pure or complex X-linked spastic paraplegia' 'Allan-Herndon-Dudley syndrome' SubClassOf 'Pelizaeus-Merzbacher-like disease' 'Allan-Herndon-Dudley syndrome' SubClassOf 'Peripheral hypothyroidism' 'Allan-Herndon-Dudley syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Allan-Herndon-Dudley syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Allan-Herndon-Dudley syndrome' SubClassOf 'Pure or complex X-linked spastic paraplegia' 'Allan-Herndon-Dudley syndrome' SubClassOf 'Complex hereditary spastic paraplegia' 'Allan-Herndon-Dudley syndrome' SubClassOf 'Pelizaeus-Merzbacher-like disease' 'Allan-Herndon-Dudley syndrome' SubClassOf 'Syndromic hypothyroidism' 'Allan-Herndon-Dudley syndrome' SubClassOf 'Peripheral hypothyroidism' 'Allan-Herndon-Dudley syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/HP_0001395 Hepatic fibrosis 'Hepatic fibrosis' EquivalentTo 'has part' some ('increased amount' and ('inheres_in' some ('fibrosis' and ('part_of' some 'liver'))) and ('has component' some 'abnormal')) http://purl.obolibrary.org/obo/CHEBI_7735 olanzapine 'olanzapine' SubClassOf 'has_role' some 'antipsychotic drug' http://www.orpha.net/ORDO/Orphanet_217377 Microduplication Xp11.22-p11.23 syndrome 'Microduplication Xp11.22-p11.23 syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Microduplication Xp11.22-p11.23 syndrome' SubClassOf 'Partial duplication of the short arm of chromosome X' 'Microduplication Xp11.22-p11.23 syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Microduplication Xp11.22-p11.23 syndrome' SubClassOf 'Partial duplication of the short arm of chromosome X' 'Microduplication Xp11.22-p11.23 syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015652 'Microduplication Xp11.22-p11.23 syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Microduplication Xp11.22-p11.23 syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000762 http://www.orpha.net/ORDO/Orphanet_50 Aicardi syndrome 'Aicardi syndrome' SubClassOf 'Nervous system anomaly with eye involvement' 'Aicardi syndrome' SubClassOf 'Cerebral malformation with epilepsy' 'Aicardi syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Aicardi syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Aicardi syndrome' SubClassOf 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' 'Aicardi syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Aicardi syndrome' SubClassOf 'Nervous system anomaly with eye involvement' 'Aicardi syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016055 'Aicardi syndrome' SubClassOf 'Cerebral malformation with epilepsy' 'Aicardi syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Aicardi syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Aicardi syndrome' SubClassOf 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' 'Aicardi syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' http://www.orpha.net/ORDO/Orphanet_51 Aicardi-Goutières syndrome 'Aicardi-Goutières syndrome' SubClassOf 'Leukodystrophy' 'Aicardi-Goutières syndrome' SubClassOf 'Immune dysregulation disease with immunodeficiency' 'Aicardi-Goutières syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Aicardi-Goutières syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018782 'Aicardi-Goutières syndrome' SubClassOf 'Leukodystrophy' 'Aicardi-Goutières syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018792 'Aicardi-Goutières syndrome' SubClassOf 'autosomal recessive disease' http://www.orpha.net/ORDO/Orphanet_52 Alagille syndrome 'Alagille syndrome' SubClassOf 'Syndromic visceral malformation' 'Alagille syndrome' SubClassOf 'Genetic biliary tract disease' 'Alagille syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Alagille syndrome' SubClassOf 'Rare syndrome with cardiac malformations' 'Alagille syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Alagille syndrome' SubClassOf 'Rare disease with glaucoma as a major feature' 'Alagille syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Alagille syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Alagille syndrome' SubClassOf 'Rare genetic neurological disorder' 'Alagille syndrome' SubClassOf 'Genetic biliary tract disease' 'Alagille syndrome' SubClassOf 'Syndromic visceral malformation' 'Alagille syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Alagille syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Alagille syndrome' SubClassOf 'Rare syndrome with cardiac malformations' 'Alagille syndrome' SubClassOf 'Rare disease with glaucoma as a major feature' 'Alagille syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Alagille syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' http://www.orpha.net/ORDO/Orphanet_398189 Focal facial dermal dysplasia type IV 'Focal facial dermal dysplasia type IV' SubClassOf 'Focal facial dermal dysplasia' 'Focal facial dermal dysplasia type IV' SubClassOf 'Focal facial dermal dysplasia' http://www.orpha.net/ORDO/Orphanet_53 Albers-Schönberg osteopetrosis 'Albers-Schönberg osteopetrosis' SubClassOf 'Unclassified primitive or secondary maculopathy' 'Albers-Schönberg osteopetrosis' SubClassOf 'Osteopetrosis' 'Albers-Schönberg osteopetrosis' SubClassOf 'Unclassified primitive or secondary maculopathy' 'Albers-Schönberg osteopetrosis' SubClassOf 'Optic neuropathy' 'Albers-Schönberg osteopetrosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020645 http://purl.obolibrary.org/obo/PO_0025001 cardinal organ part 'cardinal organ part' SubClassOf 'plant structure' 'cardinal organ part' SubClassOf 'plant structure' http://www.orpha.net/ORDO/Orphanet_54 X-linked recessive ocular albinism 'X-linked recessive ocular albinism' SubClassOf 'Ocular albinism' 'X-linked recessive ocular albinism' SubClassOf 'Ocular albinism' 'X-linked recessive ocular albinism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020605 http://www.orpha.net/ORDO/Orphanet_55 Oculocutaneous albinism 'Oculocutaneous albinism' SubClassOf 'Genetic hypopigmentation of the skin' 'Oculocutaneous albinism' SubClassOf 'Oculocutaneous or ocular albinism' 'Oculocutaneous albinism' SubClassOf 'Disorder of melanin metabolism' 'Oculocutaneous albinism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 'Oculocutaneous albinism' SubClassOf 'Genetic hypopigmentation of the skin' 'Oculocutaneous albinism' SubClassOf 'Oculocutaneous or ocular albinism' 'Oculocutaneous albinism' SubClassOf 'Disorder of melanin metabolism' http://www.orpha.net/ORDO/Orphanet_228012 Progressive sensorineural hearing loss - hypertrophic cardiomyopathy 'Progressive sensorineural hearing loss - hypertrophic cardiomyopathy' SubClassOf 'Syndromic genetic deafness' 'Progressive sensorineural hearing loss - hypertrophic cardiomyopathy' SubClassOf 'Syndrome associated with hypertrophic cardiomyopathy' 'Progressive sensorineural hearing loss - hypertrophic cardiomyopathy' SubClassOf 'Genetic cardiac rhythm disease' 'Progressive sensorineural hearing loss - hypertrophic cardiomyopathy' SubClassOf 'Syndromic genetic deafness' 'Progressive sensorineural hearing loss - hypertrophic cardiomyopathy' SubClassOf 'Syndrome associated with hypertrophic cardiomyopathy' 'Progressive sensorineural hearing loss - hypertrophic cardiomyopathy' SubClassOf 'Genetic cardiac rhythm disease' http://www.orpha.net/ORDO/Orphanet_314597 Chudley-McCullough syndrome 'Chudley-McCullough syndrome' SubClassOf 'Syndromic genetic deafness' 'Chudley-McCullough syndrome' SubClassOf 'Genetic syndrome with a central nervous system malformation as major feature' 'Chudley-McCullough syndrome' SubClassOf 'Syndromic genetic deafness' 'Chudley-McCullough syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017120 http://www.orpha.net/ORDO/Orphanet_379 Chronic granulomatous disease 'Chronic granulomatous disease' SubClassOf 'Functional neutrophil defect' 'Chronic granulomatous disease' SubClassOf 'Genetic immune deficiency with skin involvement' 'Chronic granulomatous disease' SubClassOf 'Metabolic disease with intestinal involvement' 'Chronic granulomatous disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017259 'Chronic granulomatous disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044976 'Chronic granulomatous disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024626 'Chronic granulomatous disease' SubClassOf 'Functional neutrophil defect' 'Chronic granulomatous disease' SubClassOf 'inflammatory bowel disease' 'Chronic granulomatous disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017023 'Chronic granulomatous disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017260 'Chronic granulomatous disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017261 'Chronic granulomatous disease' SubClassOf 'phagocyte bactericidal dysfunction' 'Chronic granulomatous disease' SubClassOf 'Genetic immune deficiency with skin involvement' 'Chronic granulomatous disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021166 'Chronic granulomatous disease' SubClassOf 'related to' some 'vasculitis' 'Chronic granulomatous disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044971 http://www.orpha.net/ORDO/Orphanet_231662 Isolated growth hormone deficiency type IA 'Isolated growth hormone deficiency type IA' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000050 http://www.orpha.net/ORDO/Orphanet_280615 Hemoglobinopathy Toms River 'Hemoglobinopathy Toms River' SubClassOf 'Hemoglobinopathy' 'Hemoglobinopathy Toms River' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Hemoglobinopathy Toms River' SubClassOf http://purl.obolibrary.org/obo/MONDO_0013511 'Hemoglobinopathy Toms River' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002280 'Hemoglobinopathy Toms River' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019050 http://www.orpha.net/ORDO/Orphanet_377 Gorlin syndrome 'Gorlin syndrome' SubClassOf 'Malformation syndrome with hamartosis' 'Gorlin syndrome' SubClassOf 'Inherited cancer-predisposing syndrome' 'Gorlin syndrome' SubClassOf 'Malformation syndrome with hamartosis' 'Gorlin syndrome' SubClassOf 'Inherited cancer-predisposing syndrome' 'Gorlin syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 'Gorlin syndrome' SubClassOf 'disease has feature' some 'Malignant tumor of palpebral epidermis' 'Gorlin syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016756 'Gorlin syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Gorlin syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0042983 http://www.orpha.net/ORDO/Orphanet_376 Gordon syndrome 'Gordon syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Gordon syndrome' SubClassOf 'Distal arthrogryposis' 'Gordon syndrome' SubClassOf 'Orofacial clefting syndrome' 'Gordon syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Gordon syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 'Gordon syndrome' SubClassOf 'Distal arthrogryposis' 'Gordon syndrome' SubClassOf 'Orofacial clefting syndrome' http://www.orpha.net/ORDO/Orphanet_374 Goldenhar syndrome 'Goldenhar syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Goldenhar syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Goldenhar syndrome' SubClassOf 'Syndromic corneal dystrophy' 'Goldenhar syndrome' SubClassOf 'Bulbar conjunctival dermoid or conjunctival dermolipoma' 'Goldenhar syndrome' SubClassOf 'Syndromic palpebral coloboma' 'Goldenhar syndrome' SubClassOf 'Lens shape anomaly' 'Goldenhar syndrome' SubClassOf 'Oculo-auriculo-vertebral spectrum' 'Goldenhar syndrome' SubClassOf 'Pierre Robin syndrome associated with branchial archs anomalies' 'Goldenhar syndrome' SubClassOf 'Dysostosis with predominant craniofacial involvement' 'Goldenhar syndrome' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Goldenhar syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Goldenhar syndrome' SubClassOf 'Syndromic corneal dystrophy' 'Goldenhar syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021635 'Goldenhar syndrome' SubClassOf 'Syndromic palpebral coloboma' 'Goldenhar syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021238 'Goldenhar syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 'Goldenhar syndrome' SubClassOf 'Genetic skin tumor' 'Goldenhar syndrome' SubClassOf 'Lens shape anomaly' 'Goldenhar syndrome' SubClassOf 'Pierre Robin syndrome associated with branchial archs anomalies' 'Goldenhar syndrome' SubClassOf 'Genetic eye tumor' 'Goldenhar syndrome' SubClassOf 'Bulbar conjunctival dermoid or conjunctival dermolipoma' 'Goldenhar syndrome' SubClassOf 'bone neoplasm' 'Goldenhar syndrome' SubClassOf 'Oculoauriculovertebral spectrum with radial defects' 'Goldenhar syndrome' SubClassOf 'Oculo-auriculo-vertebral spectrum' 'Goldenhar syndrome' SubClassOf 'eyelid neoplasm' http://www.orpha.net/ORDO/Orphanet_373 Simpson-Golabi-Behmel syndrome 'Simpson-Golabi-Behmel syndrome' SubClassOf 'Overgrowth syndrome' 'Simpson-Golabi-Behmel syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Simpson-Golabi-Behmel syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Simpson-Golabi-Behmel syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Simpson-Golabi-Behmel syndrome' SubClassOf 'Syndrome or malformation associated with head and neck malformations' 'Simpson-Golabi-Behmel syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Simpson-Golabi-Behmel syndrome' SubClassOf 'Macroglossia' 'Simpson-Golabi-Behmel syndrome' SubClassOf 'Overgrowth syndrome' 'Simpson-Golabi-Behmel syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Simpson-Golabi-Behmel syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Simpson-Golabi-Behmel syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Simpson-Golabi-Behmel syndrome' SubClassOf 'Syndrome or malformation associated with head and neck malformations' 'Simpson-Golabi-Behmel syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Simpson-Golabi-Behmel syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015216 'Simpson-Golabi-Behmel syndrome' SubClassOf 'Macroglossia' 'Simpson-Golabi-Behmel syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015880 'Simpson-Golabi-Behmel syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 'Simpson-Golabi-Behmel syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 http://www.orpha.net/ORDO/Orphanet_370 Glycogen storage disease due to phosphorylase kinase deficiency 'Glycogen storage disease due to phosphorylase kinase deficiency' SubClassOf 'Glycogen storage disease' 'Glycogen storage disease due to phosphorylase kinase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044976 'Glycogen storage disease due to phosphorylase kinase deficiency' SubClassOf 'Glycogen storage disease' http://www.orpha.net/ORDO/Orphanet_183487 Genetic skin tumor 'Genetic skin tumor' SubClassOf 'has_disease_location' some 'zone of skin' 'Genetic skin tumor' SubClassOf 'has_disease_location' some ('zone of skin' or ('part_of' some 'zone of skin')) 'Genetic skin tumor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 'Genetic skin tumor' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://www.orpha.net/ORDO/Orphanet_293925 Lethal occipital encephalocele-skeletal dysplasia syndrome 'Lethal occipital encephalocele-skeletal dysplasia syndrome' SubClassOf 'Syndromic craniosynostosis' 'Lethal occipital encephalocele-skeletal dysplasia syndrome' SubClassOf 'Syndromic craniosynostosis' http://www.orpha.net/ORDO/Orphanet_60 Alpha-1-antitrypsin deficiency 'Alpha-1-antitrypsin deficiency' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'Alpha-1-antitrypsin deficiency' SubClassOf 'Other metabolic disease' 'Alpha-1-antitrypsin deficiency' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'Alpha-1-antitrypsin deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015118 'Alpha-1-antitrypsin deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Alpha-1-antitrypsin deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002273 'Alpha-1-antitrypsin deficiency' SubClassOf 'Other metabolic disease' http://www.orpha.net/ORDO/Orphanet_61 Alpha-mannosidosis 'Alpha-mannosidosis' SubClassOf 'Neurometabolic disease' 'Alpha-mannosidosis' SubClassOf 'Metabolic disease with corneal opacity' 'Alpha-mannosidosis' SubClassOf 'Metabolic disease with cataract' 'Alpha-mannosidosis' SubClassOf 'Oligosaccharidosis' 'Alpha-mannosidosis' SubClassOf 'Lysosomal storage disease with skeletal involvement' 'Alpha-mannosidosis' SubClassOf 'Cataract associated with a metabolic disease' 'Alpha-mannosidosis' SubClassOf 'Neurometabolic disease' 'Alpha-mannosidosis' SubClassOf 'Metabolic disease with corneal opacity' 'Alpha-mannosidosis' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'Alpha-mannosidosis' SubClassOf 'Metabolic disease with cataract' 'Alpha-mannosidosis' SubClassOf 'Oligosaccharidosis' 'Alpha-mannosidosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Alpha-mannosidosis' SubClassOf 'Lysosomal storage disease with skeletal involvement' 'Alpha-mannosidosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044976 'Alpha-mannosidosis' SubClassOf 'Cataract associated with a metabolic disease' http://www.orpha.net/ORDO/Orphanet_62 Autosomal recessive limb-girdle muscular dystrophy type 2D 'Autosomal recessive limb-girdle muscular dystrophy type 2D' SubClassOf 'Qualitative or quantitative defects of alpha-sarcoglycan' 'Autosomal recessive limb-girdle muscular dystrophy type 2D' SubClassOf 'Neuromuscular disease with dilated cardiomyopathy' 'Autosomal recessive limb-girdle muscular dystrophy type 2D' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' 'Autosomal recessive limb-girdle muscular dystrophy type 2D' SubClassOf 'Neuromuscular disease with dilated cardiomyopathy' 'Autosomal recessive limb-girdle muscular dystrophy type 2D' SubClassOf 'Qualitative or quantitative defects of alpha-sarcoglycan' 'Autosomal recessive limb-girdle muscular dystrophy type 2D' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' http://www.orpha.net/ORDO/Orphanet_63 Alport syndrome 'Alport syndrome' SubClassOf 'Basement membrane disease' 'Alport syndrome' SubClassOf 'Renal disease with cataract' 'Alport syndrome' SubClassOf 'Syndromic genetic deafness' 'Alport syndrome' SubClassOf 'Lens shape anomaly' 'Alport syndrome' SubClassOf 'Basement membrane disease' 'Alport syndrome' SubClassOf 'Renal disease with cataract' 'Alport syndrome' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'Alport syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000275 'Alport syndrome' SubClassOf 'Syndromic genetic deafness' 'Alport syndrome' SubClassOf 'Lens shape anomaly' http://www.orpha.net/ORDO/Orphanet_64 Alström syndrome 'Alström syndrome' SubClassOf 'has_disease_location' some 'cilium' http://www.orpha.net/ORDO/Orphanet_65 Leber congenital amaurosis 'Leber congenital amaurosis' SubClassOf 'Syndromic hyperopia' 'Leber congenital amaurosis' SubClassOf 'Syndromic keratoconus' 'Leber congenital amaurosis' SubClassOf 'Syndromic hyperopia' 'Leber congenital amaurosis' SubClassOf 'Retinal dystrophy' 'Leber congenital amaurosis' SubClassOf 'Syndromic keratoconus' http://www.orpha.net/ORDO/Orphanet_254334 Autosomal recessive intermediate Charcot-Marie-Tooth disease type B 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type B' SubClassOf 'Autosomal recessive intermediate Charcot-Marie-Tooth disease' 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type B' SubClassOf 'Autosomal recessive intermediate Charcot-Marie-Tooth disease' http://www.orpha.net/ORDO/Orphanet_169142 Recurrent infection due to specific granule deficiency 'Recurrent infection due to specific granule deficiency' SubClassOf 'Functional neutrophil defect' 'Recurrent infection due to specific granule deficiency' SubClassOf 'Functional neutrophil defect' 'Recurrent infection due to specific granule deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024626 http://www.orpha.net/ORDO/Orphanet_388 Hirschsprung disease 'Hirschsprung disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021189 'Hirschsprung disease' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Hirschsprung disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021635 http://www.orpha.net/ORDO/Orphanet_385 Neurodegeneration with brain iron accumulation 'Neurodegeneration with brain iron accumulation' SubClassOf 'mineral metabolism disease' 'Neurodegeneration with brain iron accumulation' SubClassOf 'Genetic dementia' 'Neurodegeneration with brain iron accumulation' SubClassOf 'Miscellaneous movement disorder due to genetic neurodegenerative disease' 'Neurodegeneration with brain iron accumulation' SubClassOf 'Neurometabolic disease' 'Neurodegeneration with brain iron accumulation' SubClassOf 'Genetic neurodegenerative disease' 'Neurodegeneration with brain iron accumulation' SubClassOf 'Genetic neurodegenerative disease with dementia' 'Neurodegeneration with brain iron accumulation' SubClassOf 'Miscellaneous movement disorder due to genetic neurodegenerative disease' 'Neurodegeneration with brain iron accumulation' SubClassOf 'Metabolic disease with dementia' 'Neurodegeneration with brain iron accumulation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002283 'Neurodegeneration with brain iron accumulation' SubClassOf 'Neurometabolic disease' 'Neurodegeneration with brain iron accumulation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002279 http://www.orpha.net/ORDO/Orphanet_384 Palmoplantar keratoderma-sclerodactyly syndrome 'Palmoplantar keratoderma-sclerodactyly syndrome' SubClassOf 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' 'Palmoplantar keratoderma-sclerodactyly syndrome' SubClassOf 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' http://www.orpha.net/ORDO/Orphanet_183450 Genetic hair anomaly 'Genetic hair anomaly' SubClassOf 'Genetic epidermal appendage anomaly' 'Genetic hair anomaly' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0019278 and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) 'Genetic hair anomaly' SubClassOf 'Genetic epidermal appendage anomaly' 'Genetic hair anomaly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019278 http://www.orpha.net/ORDO/Orphanet_383 X-linked mixed deafness with perilymphatic gusher 'X-linked mixed deafness with perilymphatic gusher' SubClassOf 'Prelingual non-syndromic genetic deafness' 'X-linked mixed deafness with perilymphatic gusher' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019586 'X-linked mixed deafness with perilymphatic gusher' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 'X-linked mixed deafness with perilymphatic gusher' SubClassOf 'inner ear disease' http://www.orpha.net/ORDO/Orphanet_217396 Progressive demyelinating neuropathy with bilateral striatal necrosis 'Progressive demyelinating neuropathy with bilateral striatal necrosis' SubClassOf 'Genetic peripheral neuropathy' 'Progressive demyelinating neuropathy with bilateral striatal necrosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000152 'Progressive demyelinating neuropathy with bilateral striatal necrosis' SubClassOf 'Genetic peripheral neuropathy' http://www.orpha.net/ORDO/Orphanet_231692 Isolated growth hormone deficiency type III 'Isolated growth hormone deficiency type III' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000050 http://www.orpha.net/ORDO/Orphanet_382 Guanidinoacetate methyltransferase deficiency 'Guanidinoacetate methyltransferase deficiency' SubClassOf 'Neurometabolic disease' 'Guanidinoacetate methyltransferase deficiency' SubClassOf 'Syndromic neurometabolic disease with non-X-linked intellectual disability' 'Guanidinoacetate methyltransferase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0045018 'Guanidinoacetate methyltransferase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044976 'Guanidinoacetate methyltransferase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000456 'Guanidinoacetate methyltransferase deficiency' SubClassOf 'Syndromic neurometabolic disease with non-X-linked intellectual disability' http://www.ebi.ac.uk/efo/EFO_0004812 interleukin-1 beta measurement 'interleukin-1 beta measurement' SubClassOf 'is_about' some 'cytokine' 'interleukin-1 beta measurement' SubClassOf 'is_about' some 'interleukin-1 beta (Homo sapiens)' 'interleukin-1 beta measurement' SubClassOf 'is_about' some 'inflammatory response' http://www.orpha.net/ORDO/Orphanet_381 Griscelli disease 'Griscelli disease' SubClassOf 'Syndromic oculocutaneous albinism' 'Griscelli disease' SubClassOf 'Syndromic oculocutaneous albinism' http://www.ebi.ac.uk/efo/EFO_0004813 alpha globulin measurement 'alpha globulin measurement' SubClassOf 'is_about' some 'protein' http://www.orpha.net/ORDO/Orphanet_217390 Combined immunodeficiency due to DOCK8 deficiency 'Combined immunodeficiency due to DOCK8 deficiency' SubClassOf 'Combined T and B cell immunodeficiency' 'Combined immunodeficiency due to DOCK8 deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018814 http://www.orpha.net/ORDO/Orphanet_380 Greig cephalopolysyndactyly syndrome 'Greig cephalopolysyndactyly syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Greig cephalopolysyndactyly syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' http://www.ebi.ac.uk/efo/EFO_0004810 interleukin-6 measurement 'interleukin-6 measurement' SubClassOf 'is_about' some 'interleukin' 'interleukin-6 measurement' SubClassOf 'is_about' some 'inflammatory response' 'interleukin-6 measurement' SubClassOf 'is_about' some 'cytokine' http://www.orpha.net/ORDO/Orphanet_183454 Genetic nail anomaly 'Genetic nail anomaly' SubClassOf 'Genetic epidermal appendage anomaly' 'Genetic nail anomaly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019283 'Genetic nail anomaly' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0019283 and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) 'Genetic nail anomaly' SubClassOf 'Genetic epidermal appendage anomaly' http://www.ebi.ac.uk/efo/EFO_0004811 interleukin-8 measurement 'interleukin-8 measurement' SubClassOf 'is_about' some 'inflammatory response' 'interleukin-8 measurement' SubClassOf 'is_about' some 'cytokine' 'interleukin-8 measurement' SubClassOf 'is_about' some 'interleukin' 'interleukin-8 measurement' SubClassOf ('is_about' some 'bladder carcinoma') or ('is_about' some 'infectious disease') or ('is_about' some 'non-Hodgkins lymphoma') http://www.orpha.net/ORDO/Orphanet_268987 Isolated focal cortical dysplasia type Ic 'Isolated focal cortical dysplasia type Ic' SubClassOf 'Isolated focal cortical dysplasia type I' 'Isolated focal cortical dysplasia type Ic' SubClassOf 'Isolated focal cortical dysplasia type I' http://www.orpha.net/ORDO/Orphanet_35 Propionic acidemia 'Propionic acidemia' SubClassOf 'Classic organic aciduria' 'Propionic acidemia' SubClassOf 'Classic organic aciduria' http://www.ebi.ac.uk/efo/EFO_0004814 interleukin-6 receptor measurement 'interleukin-6 receptor measurement' SubClassOf 'is_about' some 'cytokine' 'interleukin-6 receptor measurement' SubClassOf 'is_about' some 'inflammatory response' 'interleukin-6 receptor measurement' SubClassOf 'is_about' some 'protein' 'interleukin-6 receptor measurement' SubClassOf 'is_about' some 'Alzheimer's disease' http://www.orpha.net/ORDO/Orphanet_183447 Genetic epidermal appendage anomaly 'Genetic epidermal appendage anomaly' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0019277 and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) 'Genetic epidermal appendage anomaly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019277 'Genetic epidermal appendage anomaly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 http://www.orpha.net/ORDO/Orphanet_36 Acrocallosal syndrome 'Acrocallosal syndrome' SubClassOf 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' 'Acrocallosal syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Acrocallosal syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Acrocallosal syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016055 'Acrocallosal syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Acrocallosal syndrome' SubClassOf 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' 'Acrocallosal syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Acrocallosal syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.ebi.ac.uk/efo/EFO_0004815 alpha macroglobulin measurement 'alpha macroglobulin measurement' SubClassOf 'is_about' some 'kidney' 'alpha macroglobulin measurement' SubClassOf 'is_about' some 'kidney disease' http://www.orpha.net/ORDO/Orphanet_37 Acrodermatitis enteropathica 'Acrodermatitis enteropathica' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Acrodermatitis enteropathica' SubClassOf 'Genetic intestinal disease due to fat malabsorption' 'Acrodermatitis enteropathica' SubClassOf 'Disorder of zinc metabolism' 'Acrodermatitis enteropathica' SubClassOf 'Metabolic disease with skin involvement' 'Acrodermatitis enteropathica' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004689 'Acrodermatitis enteropathica' SubClassOf 'Metabolic disease with intestinal involvement' 'Acrodermatitis enteropathica' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 'Acrodermatitis enteropathica' SubClassOf 'Genetic intestinal disease due to fat malabsorption' 'Acrodermatitis enteropathica' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Acrodermatitis enteropathica' SubClassOf 'Disorder of zinc metabolism' 'Acrodermatitis enteropathica' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019252 'Acrodermatitis enteropathica' SubClassOf 'Developmental anomaly of metabolic origin' http://www.ebi.ac.uk/efo/EFO_0004818 transforming growth factor beta measurement 'transforming growth factor beta measurement' SubClassOf 'is_about' some 'inflammatory response' http://www.orpha.net/ORDO/Orphanet_217399 Congenital insensitivity to pain with hyperhidrosis 'Congenital insensitivity to pain with hyperhidrosis' SubClassOf 'Hereditary sensory and autonomic neuropathy' 'Congenital insensitivity to pain with hyperhidrosis' SubClassOf 'Hereditary sensory and autonomic neuropathy' http://purl.obolibrary.org/obo/HP_0001332 Dystonia 'Dystonia' SubClassOf 'behavioral abnormality' 'Dystonia' SubClassOf 'behavioral abnormality' http://www.ebi.ac.uk/efo/EFO_0004819 resistin measurement 'resistin measurement' SubClassOf 'is_about' some 'cytokine' 'resistin measurement' SubClassOf 'is_about' some ('obesity' and 'type II diabetes mellitus' and ('has_role' some 'biomarker')) http://www.orpha.net/ORDO/Orphanet_30 Hereditary orotic aciduria 'Hereditary orotic aciduria' SubClassOf 'Vitamin B12- and folate-independent constitutional megaloblastic anemia' 'Hereditary orotic aciduria' SubClassOf 'Disorder of pyrimidine metabolism' 'Hereditary orotic aciduria' SubClassOf 'Vitamin B12- and folate-independent constitutional megaloblastic anemia' 'Hereditary orotic aciduria' SubClassOf 'Disorder of pyrimidine metabolism' http://www.orpha.net/ORDO/Orphanet_31 Oxoglutaricaciduria 'Oxoglutaricaciduria' SubClassOf 'Tricarboxylic acid cycle disorder' 'Oxoglutaricaciduria' SubClassOf 'Neurometabolic disease' 'Oxoglutaricaciduria' SubClassOf 'Mitochondrial disease with peripheral neuropathy' 'Oxoglutaricaciduria' SubClassOf 'Tricarboxylic acid cycle disorder' 'Oxoglutaricaciduria' SubClassOf 'Cerebral organic aciduria' 'Oxoglutaricaciduria' SubClassOf 'Neurometabolic disease' 'Oxoglutaricaciduria' SubClassOf 'Mitochondrial disease with peripheral neuropathy' 'Oxoglutaricaciduria' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016402 http://www.orpha.net/ORDO/Orphanet_32 Glutathione synthetase deficiency 'Glutathione synthetase deficiency' SubClassOf 'Disorder of the gamma-glutamyl cycle' 'Glutathione synthetase deficiency' SubClassOf 'Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies' 'Glutathione synthetase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024626 'Glutathione synthetase deficiency' SubClassOf 'Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies' 'Glutathione synthetase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003689 'Glutathione synthetase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0040566 http://www.orpha.net/ORDO/Orphanet_268980 Isolated focal cortical dysplasia type Ib 'Isolated focal cortical dysplasia type Ib' SubClassOf 'Isolated focal cortical dysplasia type I' 'Isolated focal cortical dysplasia type Ib' SubClassOf 'Isolated focal cortical dysplasia type I' http://www.orpha.net/ORDO/Orphanet_33 Isovaleric acidemia 'Isovaleric acidemia' SubClassOf 'Classic organic aciduria' 'Isovaleric acidemia' SubClassOf 'Classic organic aciduria' http://www.orpha.net/ORDO/Orphanet_254346 19p13.12 microdeletion syndrome '19p13.12 microdeletion syndrome' SubClassOf 'Partial deletion of the short arm of chromosome 19' '19p13.12 microdeletion syndrome' SubClassOf 'Partial deletion of the short arm of chromosome 19' http://www.orpha.net/ORDO/Orphanet_254343 Autosomal recessive spastic ataxia - optic atrophy - dysarthria 'Autosomal recessive spastic ataxia - optic atrophy - dysarthria' SubClassOf 'Autosomal recessive spastic ataxia' 'Autosomal recessive spastic ataxia - optic atrophy - dysarthria' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Autosomal recessive spastic ataxia - optic atrophy - dysarthria' SubClassOf 'Metabolic disease with dementia' 'Autosomal recessive spastic ataxia - optic atrophy - dysarthria' SubClassOf 'Autosomal recessive spastic ataxia' 'Autosomal recessive spastic ataxia - optic atrophy - dysarthria' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' http://www.orpha.net/ORDO/Orphanet_314575 Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome 'Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome' SubClassOf 'infantile hypertrophic pyloric stenosis' 'Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome' SubClassOf 'Rare genetic neurological disorder' 'Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 http://purl.obolibrary.org/obo/NCBITaxon_63416 obsolete_Trichophyton megninii 'obsolete_Trichophyton megninii' SubClassOf 'obsolete class' 'obsolete_Trichophyton megninii' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_399 Huntington disease 'Huntington disease' SubClassOf 'Genetic neurodegenerative disease with dementia' 'Huntington disease' SubClassOf 'Neurodegenerative disease with chorea' 'Huntington disease' SubClassOf 'Genetic neurodegenerative disease with dementia' 'Huntington disease' SubClassOf 'disease has feature' some 'Oculomotor apraxia or related oculomotor disease' 'Huntington disease' SubClassOf 'Neurodegenerative disease with chorea' 'Huntington disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000167 http://www.orpha.net/ORDO/Orphanet_314572 Autosomal recessive leukoencephalopathy with ischemic stroke-retinitis pigmentosa syndrome 'Autosomal recessive leukoencephalopathy with ischemic stroke-retinitis pigmentosa syndrome' SubClassOf 'Genetic central nervous system and retinal vascular disease' 'Autosomal recessive leukoencephalopathy with ischemic stroke-retinitis pigmentosa syndrome' SubClassOf 'Syndromic retinitis pigmentosa' 'Autosomal recessive leukoencephalopathy with ischemic stroke-retinitis pigmentosa syndrome' SubClassOf 'Syndromic retinitis pigmentosa' 'Autosomal recessive leukoencephalopathy with ischemic stroke-retinitis pigmentosa syndrome' SubClassOf 'cerebral small vessel disease' http://www.orpha.net/ORDO/Orphanet_217382 Neurodegenerative syndrome due to cerebral folate transport deficiency 'Neurodegenerative syndrome due to cerebral folate transport deficiency' SubClassOf 'Disorder of folate metabolism and transport' 'Neurodegenerative syndrome due to cerebral folate transport deficiency' SubClassOf 'Genetic neurodegenerative disease' 'Neurodegenerative syndrome due to cerebral folate transport deficiency' SubClassOf 'participates_in' some ('folic acid transport' and ('has component' some 'abnormal')) 'Neurodegenerative syndrome due to cerebral folate transport deficiency' SubClassOf 'Disorder of folate metabolism and transport' 'Neurodegenerative syndrome due to cerebral folate transport deficiency' SubClassOf 'vitamin metabolic disorder' 'Neurodegenerative syndrome due to cerebral folate transport deficiency' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_183460 Genetic sebaceous gland anomaly 'Genetic sebaceous gland anomaly' SubClassOf 'Genetic epidermal appendage anomaly' 'Genetic sebaceous gland anomaly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019286 'Genetic sebaceous gland anomaly' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0019286 and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) 'Genetic sebaceous gland anomaly' SubClassOf 'Genetic epidermal appendage anomaly' http://www.orpha.net/ORDO/Orphanet_395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency 'Homocystinuria due to methylene tetrahydrofolate reductase deficiency' SubClassOf 'Disorder of folate metabolism and transport' 'Homocystinuria due to methylene tetrahydrofolate reductase deficiency' SubClassOf 'Rare hereditary metabolic disease with peripheral neuropathy' 'Homocystinuria due to methylene tetrahydrofolate reductase deficiency' SubClassOf 'Disorder of folate metabolism and transport' 'Homocystinuria due to methylene tetrahydrofolate reductase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004737 'Homocystinuria due to methylene tetrahydrofolate reductase deficiency' SubClassOf 'Rare hereditary metabolic disease with peripheral neuropathy' http://www.orpha.net/ORDO/Orphanet_394 Classical homocystinuria 'Classical homocystinuria' SubClassOf 'Syndromic developmental defect of the eye' 'Classical homocystinuria' SubClassOf 'Rare disease with glaucoma as a major feature' 'Classical homocystinuria' SubClassOf 'Developmental anomaly of metabolic origin' 'Classical homocystinuria' SubClassOf 'Lens position anomaly' 'Classical homocystinuria' SubClassOf 'Metabolic disease with cataract' 'Classical homocystinuria' SubClassOf 'Disorder of methionine cycle and sulfur amino acid metabolism' 'Classical homocystinuria' SubClassOf 'Neurometabolic disease' 'Classical homocystinuria' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016399 'Classical homocystinuria' SubClassOf 'Cerebral organic aciduria' 'Classical homocystinuria' SubClassOf 'Rare disease with glaucoma as a major feature' 'Classical homocystinuria' SubClassOf 'Syndromic developmental defect of the eye' 'Classical homocystinuria' SubClassOf 'Developmental anomaly of metabolic origin' 'Classical homocystinuria' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004737 'Classical homocystinuria' SubClassOf 'Lens position anomaly' 'Classical homocystinuria' SubClassOf 'Metabolic disease with cataract' 'Classical homocystinuria' SubClassOf 'Neurometabolic disease' http://www.orpha.net/ORDO/Orphanet_217385 17p13.3 microduplication syndrome '17p13.3 microduplication syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '17p13.3 microduplication syndrome' SubClassOf 'Partial duplication of the short arm of chromosome 17' '17p13.3 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 '17p13.3 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 '17p13.3 microduplication syndrome' SubClassOf 'Rare genetic neurological disorder' '17p13.3 microduplication syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '17p13.3 microduplication syndrome' SubClassOf 'Partial duplication of the short arm of chromosome 17' '17p13.3 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000762 http://www.orpha.net/ORDO/Orphanet_393 46,XX testicular disorder of sex development '46,XX testicular disorder of sex development' SubClassOf 'Male infertility due to gonadal dysgenesis' '46,XX testicular disorder of sex development' SubClassOf '46,XX disorder of gonadal development' '46,XX testicular disorder of sex development' SubClassOf 'Male infertility due to gonadal dysgenesis' '46,XX testicular disorder of sex development' SubClassOf '46,XX gonadal dysgenesis' http://www.orpha.net/ORDO/Orphanet_169139 Transient hypogammaglobulinemia of infancy 'Transient hypogammaglobulinemia of infancy' SubClassOf 'Immunodeficiency predominantly affecting antibody production' 'Transient hypogammaglobulinemia of infancy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003827 http://www.orpha.net/ORDO/Orphanet_183463 Genetic pigmentation anomaly of the skin 'Genetic pigmentation anomaly of the skin' SubClassOf 'pigmentation disease' 'Genetic pigmentation anomaly of the skin' SubClassOf 'skin disease' http://www.orpha.net/ORDO/Orphanet_392 Holt-Oram syndrome 'Holt-Oram syndrome' SubClassOf 'Heart-hand syndrome' 'Holt-Oram syndrome' SubClassOf 'Genetic cardiac rhythm disease' 'Holt-Oram syndrome' SubClassOf 'Rare syndrome with cardiac malformations' 'Holt-Oram syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Holt-Oram syndrome' SubClassOf 'Genetic syndrome with limb reduction defects' 'Holt-Oram syndrome' SubClassOf 'Heart-hand syndrome' 'Holt-Oram syndrome' SubClassOf 'Genetic cardiac rhythm disease' 'Holt-Oram syndrome' SubClassOf 'Rare syndrome with cardiac malformations' 'Holt-Oram syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 'Holt-Oram syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.ebi.ac.uk/efo/EFO_0004802 family size 'family size' SubClassOf 'is_about' some 'male fertility' http://www.ebi.ac.uk/efo/EFO_0004800 frontal theta oscillation measurement 'frontal theta oscillation measurement' SubClassOf 'is_about' some 'central nervous system' http://www.orpha.net/ORDO/Orphanet_183466 Genetic hyperpigmentation of the skin 'Genetic hyperpigmentation of the skin' SubClassOf 'Genetic pigmentation anomaly of the skin' 'Genetic hyperpigmentation of the skin' SubClassOf 'Genetic pigmentation anomaly of the skin' http://purl.obolibrary.org/obo/HP_0001344 Absent speech 'Absent speech' SubClassOf 'abnormality of the nervous system' 'Absent speech' SubClassOf 'abnormality of the nervous system' http://www.orpha.net/ORDO/Orphanet_45 Adenosine monophosphate deaminase deficiency 'Adenosine monophosphate deaminase deficiency' SubClassOf 'Disorder of purine metabolism' 'Adenosine monophosphate deaminase deficiency' SubClassOf 'Mitochondrial myopathy' 'Adenosine monophosphate deaminase deficiency' SubClassOf 'Disorder of purine metabolism' 'Adenosine monophosphate deaminase deficiency' SubClassOf 'Mitochondrial myopathy' http://purl.obolibrary.org/obo/HP_0000014 Abnormality of the bladder 'Abnormality of the bladder' EquivalentTo 'has part' some ('quality' and ('has component' some 'abnormal') and ('inheres in part of' some 'urinary bladder')) http://www.ebi.ac.uk/efo/EFO_0004806 asbestos exposure measurement 'asbestos exposure measurement' SubClassOf 'is_about' some 'lung disease' 'asbestos exposure measurement' SubClassOf 'is_about' some 'asbestos' http://www.orpha.net/ORDO/Orphanet_46 Adenylosuccinate lyase deficiency 'Adenylosuccinate lyase deficiency' SubClassOf 'Disorder of purine metabolism' 'Adenylosuccinate lyase deficiency' SubClassOf 'Rare disease with autism' 'Adenylosuccinate lyase deficiency' SubClassOf 'Syndromic neurometabolic disease with non-X-linked intellectual disability' 'Adenylosuccinate lyase deficiency' SubClassOf 'Disorder of purine metabolism' 'Adenylosuccinate lyase deficiency' SubClassOf 'Rare disease with autism' 'Adenylosuccinate lyase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004736 'Adenylosuccinate lyase deficiency' SubClassOf 'Cerebral organic aciduria' 'Adenylosuccinate lyase deficiency' SubClassOf 'Syndromic neurometabolic disease with non-X-linked intellectual disability' 'Adenylosuccinate lyase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044976 http://www.orpha.net/ORDO/Orphanet_47 X-linked agammaglobulinemia 'X-linked agammaglobulinemia' SubClassOf 'Isolated agammaglobulinemia' 'X-linked agammaglobulinemia' SubClassOf 'Isolated agammaglobulinemia' http://www.ebi.ac.uk/efo/EFO_0004804 birth rate 'birth rate' SubClassOf 'is_about' some 'male fertility' http://www.orpha.net/ORDO/Orphanet_268973 Isolated focal cortical dysplasia type Ia 'Isolated focal cortical dysplasia type Ia' SubClassOf 'Isolated focal cortical dysplasia type I' 'Isolated focal cortical dysplasia type Ia' SubClassOf 'Isolated focal cortical dysplasia type I' http://www.orpha.net/ORDO/Orphanet_48 Congenital bilateral absence of vas deferens 'Congenital bilateral absence of vas deferens' SubClassOf 'Genetic urogenital tract malformation' 'Congenital bilateral absence of vas deferens' SubClassOf 'Male infertility due to obstructive azoospermia of genetic origin' 'Congenital bilateral absence of vas deferens' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015933 'Congenital bilateral absence of vas deferens' SubClassOf 'Male infertility due to obstructive azoospermia of genetic origin' http://www.ebi.ac.uk/efo/EFO_0004809 fructose-bisphosphate aldolase measurement 'fructose-bisphosphate aldolase measurement' SubClassOf 'is_about' some 'enzyme' http://purl.obolibrary.org/obo/HP_0000011 Neurogenic bladder 'Neurogenic bladder' SubClassOf 'bladder disease' 'Neurogenic bladder' SubClassOf 'bladder disease' 'Neurogenic bladder' SubClassOf 'has_disease_location' some ('urinary bladder' or ('part_of' some 'urinary bladder')) http://www.ebi.ac.uk/efo/EFO_0004808 L lactate dehydrogenase measurement 'L lactate dehydrogenase measurement' SubClassOf 'is_about' some 'enzyme' 'L lactate dehydrogenase measurement' SubClassOf 'is_about' some 'blood cell' 'L lactate dehydrogenase measurement' SubClassOf ('is_about' some 'Hodgkins lymphoma') or ('is_about' some 'cancer') or ('is_about' some 'anemia') http://www.orpha.net/ORDO/Orphanet_91088 Other metabolic disease 'Other metabolic disease' SubClassOf 'Inborn errors of metabolism' 'Other metabolic disease' SubClassOf 'Inborn errors of metabolism' http://www.orpha.net/ORDO/Orphanet_40 Acromesomelic dysplasia, Maroteaux type 'Acromesomelic dysplasia, Maroteaux type' SubClassOf 'Acromesomelic dysplasia' 'Acromesomelic dysplasia, Maroteaux type' SubClassOf 'Acromesomelic dysplasia, Hunter-Thomson type' http://www.orpha.net/ORDO/Orphanet_41 Dyschromatosis symmetrica hereditaria 'Dyschromatosis symmetrica hereditaria' SubClassOf 'Genetic hyperpigmentation of the skin' 'Dyschromatosis symmetrica hereditaria' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000118 'Dyschromatosis symmetrica hereditaria' SubClassOf 'Genetic hyperpigmentation of the skin' http://www.orpha.net/ORDO/Orphanet_42 Medium chain acyl-CoA dehydrogenase deficiency 'Medium chain acyl-CoA dehydrogenase deficiency' SubClassOf 'Acyl-CoA dehydrogenase deficiency' 'Medium chain acyl-CoA dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044976 'Medium chain acyl-CoA dehydrogenase deficiency' SubClassOf 'Acyl-CoA dehydrogenase deficiency' http://purl.obolibrary.org/obo/CLO_0028103 GM15590 'GM15590' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM15590' SubClassOf 'cultured cell' http://www.orpha.net/ORDO/Orphanet_43 X-linked adrenoleukodystrophy 'X-linked adrenoleukodystrophy' SubClassOf 'Genetic chronic primary adrenal insufficiency' 'X-linked adrenoleukodystrophy' SubClassOf 'Peroxisomal beta-oxidation disorder' 'X-linked adrenoleukodystrophy' SubClassOf 'Leukodystrophy' 'X-linked adrenoleukodystrophy' SubClassOf 'Neurometabolic disease' 'X-linked adrenoleukodystrophy' SubClassOf 'Genetic neurodegenerative disease' 'X-linked adrenoleukodystrophy' SubClassOf 'Metabolic disease with dementia' 'X-linked adrenoleukodystrophy' SubClassOf 'Genetic chronic primary adrenal insufficiency' 'X-linked adrenoleukodystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016398 'X-linked adrenoleukodystrophy' SubClassOf 'Peroxisomal beta-oxidation disorder' 'X-linked adrenoleukodystrophy' SubClassOf 'Leukodystrophy' 'X-linked adrenoleukodystrophy' SubClassOf 'Neurometabolic disease' 'X-linked adrenoleukodystrophy' SubClassOf 'Genetic neurodegenerative disease' 'X-linked adrenoleukodystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000425 'X-linked adrenoleukodystrophy' SubClassOf 'Metabolic disease with dementia' 'X-linked adrenoleukodystrophy' SubClassOf 'Monogenic disease with epilepsy' 'X-linked adrenoleukodystrophy' DisjointWith 'Neonatal adrenoleukodystrophy' http://www.orpha.net/ORDO/Orphanet_44 Neonatal adrenoleukodystrophy 'Neonatal adrenoleukodystrophy' SubClassOf 'Peroxisome biogenesis disorder-Zellweger syndrome spectrum' 'Neonatal adrenoleukodystrophy' SubClassOf 'Metabolic disease with pigmentary retinitis' 'Neonatal adrenoleukodystrophy' SubClassOf 'Genetic chronic primary adrenal insufficiency' 'Neonatal adrenoleukodystrophy' SubClassOf 'Monogenic disease with epilepsy' 'Neonatal adrenoleukodystrophy' SubClassOf 'Peroxisome biogenesis disorder-Zellweger syndrome spectrum' 'Neonatal adrenoleukodystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016398 'Neonatal adrenoleukodystrophy' SubClassOf 'Metabolic disease with pigmentary retinitis' 'Neonatal adrenoleukodystrophy' SubClassOf 'Genetic chronic primary adrenal insufficiency' 'X-linked adrenoleukodystrophy' DisjointWith 'Neonatal adrenoleukodystrophy' http://www.orpha.net/ORDO/Orphanet_171445 Muscle filaminopathy 'Muscle filaminopathy' SubClassOf 'Qualitative or quantitative defects of filamin C' 'Muscle filaminopathy' SubClassOf 'Myofibrillar myopathy' 'Muscle filaminopathy' SubClassOf 'Qualitative or quantitative defects of filamin C' 'Muscle filaminopathy' SubClassOf 'Myofibrillar myopathy' http://www.orpha.net/ORDO/Orphanet_169163 Familial scaphocephaly syndrome 'Familial scaphocephaly syndrome' SubClassOf 'Syndromic craniosynostosis' 'Familial scaphocephaly syndrome' SubClassOf 'Syndromic craniosynostosis' http://www.ebi.ac.uk/efo/EFO_0004830 caudate nucleus volume 'caudate nucleus volume' SubClassOf 'is_about' some 'central nervous system' 'caudate nucleus volume' SubClassOf 'is_about' some 'brain' 'caudate nucleus volume' SubClassOf 'is_about' some 'caudate nucleus' 'caudate nucleus volume' SubClassOf 'is_about' some 'volume' 'caudate nucleus volume' SubClassOf 'is_about' some 'Alzheimer's disease' http://www.ebi.ac.uk/efo/EFO_0003500 obsolete_rhombomere 8 'obsolete_rhombomere 8' SubClassOf 'obsolete class' 'obsolete_rhombomere 8' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004831 RR interval 'RR interval' SubClassOf 'is_about' some 'cardiovascular system' http://www.ebi.ac.uk/efo/EFO_0003503 obsolete_basibranchial bone 'obsolete_basibranchial bone' SubClassOf 'obsolete class' 'obsolete_basibranchial bone' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003504 obsolete_branchial muscle 'obsolete_branchial muscle' SubClassOf 'obsolete class' 'obsolete_branchial muscle' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003501 obsolete_tectal ventricle 'obsolete_tectal ventricle' SubClassOf 'obsolete class' 'obsolete_tectal ventricle' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004832 optic disc size measurement 'optic disc size measurement' SubClassOf 'is_about' some 'central nervous system' 'optic disc size measurement' SubClassOf 'is_about' some 'glaucoma' http://www.ebi.ac.uk/efo/EFO_0003502 obsolete_ventral mesenchyme 'obsolete_ventral mesenchyme' SubClassOf 'obsolete class' 'obsolete_ventral mesenchyme' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004833 neutrophil count 'neutrophil count' SubClassOf 'is_about' some 'neutrophil' 'neutrophil count' SubClassOf 'is_about' some 'blood cell' 'neutrophil count' SubClassOf ('is_about' some 'inflammatory response') or ('is_about' some 'leukemia') or ('is_about' some 'myocardial infarction') or ('is_about' some 'autoimmune disease') or ('is_about' some 'infectious disease') http://www.ebi.ac.uk/efo/EFO_0003507 obsolete_cleithrum 'obsolete_cleithrum' SubClassOf 'obsolete class' 'obsolete_cleithrum' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004838 calcium measurement 'calcium measurement' EquivalentTo 'is_about' some 'calcium' 'calcium measurement' SubClassOf 'is_about' some 'calcium' http://www.ebi.ac.uk/efo/EFO_0003508 obsolete_dentary 'obsolete_dentary' SubClassOf 'obsolete class' 'obsolete_dentary' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004839 CD4:CD8 lymphocyte ratio 'CD4:CD8 lymphocyte ratio' SubClassOf 'is_about' some 'inflammatory response' 'CD4:CD8 lymphocyte ratio' SubClassOf 'is_about' some 'lymphocyte' http://www.orpha.net/ORDO/Orphanet_13 6-pyruvoyl-tetrahydropterin synthase deficiency '6-pyruvoyl-tetrahydropterin synthase deficiency' SubClassOf 'Hyperphenylalaninemia' '6-pyruvoyl-tetrahydropterin synthase deficiency' SubClassOf 'Hyperphenylalaninemia' http://www.ebi.ac.uk/efo/EFO_0003505 obsolete_bulbus arteriosus 'obsolete_bulbus arteriosus' SubClassOf 'obsolete class' 'obsolete_bulbus arteriosus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004836 obsolete_alcohol consumption 'obsolete_alcohol consumption' SubClassOf 'obsolete class' 'obsolete_alcohol consumption' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_14 Abetalipoproteinemia 'Abetalipoproteinemia' SubClassOf 'Constitutional hemolytic anemia due to acanthocytosis' 'Abetalipoproteinemia' SubClassOf 'Genetic intestinal disease due to fat malabsorption' 'Abetalipoproteinemia' SubClassOf 'Hypobetalipoproteinemia' 'Abetalipoproteinemia' SubClassOf 'Autosomal recessive metabolic cerebellar ataxia' 'Abetalipoproteinemia' SubClassOf 'Metabolic disease with pigmentary retinitis' 'Abetalipoproteinemia' SubClassOf 'Neurometabolic disease' 'Abetalipoproteinemia' SubClassOf 'Rare hereditary metabolic disease with peripheral neuropathy' 'Abetalipoproteinemia' SubClassOf 'Developmental anomaly of metabolic origin' 'Abetalipoproteinemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000577 'Abetalipoproteinemia' SubClassOf 'Metabolic disease with intestinal involvement' 'Abetalipoproteinemia' SubClassOf 'Metabolic disease with dementia' 'Abetalipoproteinemia' SubClassOf 'Constitutional hemolytic anemia due to acanthocytosis' 'Abetalipoproteinemia' SubClassOf 'Genetic intestinal disease due to fat malabsorption' 'Abetalipoproteinemia' SubClassOf 'Hypobetalipoproteinemia' 'Abetalipoproteinemia' SubClassOf 'Metabolic disease with pigmentary retinitis' 'Abetalipoproteinemia' SubClassOf 'Autosomal recessive metabolic cerebellar ataxia' 'Abetalipoproteinemia' SubClassOf 'Rare syndromic dyslipidemia' 'Abetalipoproteinemia' SubClassOf 'Neurometabolic disease' 'Abetalipoproteinemia' SubClassOf 'Rare hereditary metabolic disease with peripheral neuropathy' http://www.ebi.ac.uk/efo/EFO_0003506 obsolete_posterior lateral line nerve 'obsolete_posterior lateral line nerve' SubClassOf 'obsolete class' 'obsolete_posterior lateral line nerve' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_15 Achondroplasia 'Achondroplasia' SubClassOf 'Primary bone dysplasia with micromelia' 'Achondroplasia' SubClassOf 'FGFR3-related chondrodysplasia' 'Achondroplasia' SubClassOf 'has_disease_location' some 'cartilage' 'Achondroplasia' SubClassOf 'osteochondrodysplasia' 'Achondroplasia' SubClassOf 'Primary bone dysplasia with micromelia' 'Achondroplasia' SubClassOf 'FGFR3-related chondrodysplasia' http://www.orpha.net/ORDO/Orphanet_16 Blue cone monochromatism 'Blue cone monochromatism' SubClassOf 'Color-vision disease' 'Blue cone monochromatism' SubClassOf 'Achromatopsia' 'Blue cone monochromatism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020605 'Blue cone monochromatism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021155 http://www.orpha.net/ORDO/Orphanet_17 Fatal infantile lactic acidosis with methylmalonic aciduria 'Fatal infantile lactic acidosis with methylmalonic aciduria' SubClassOf 'Mitochondrial DNA depletion syndrome' 'Fatal infantile lactic acidosis with methylmalonic aciduria' SubClassOf 'Mitochondrial DNA depletion syndrome, encephalomyopathic form' 'Fatal infantile lactic acidosis with methylmalonic aciduria' SubClassOf 'lactic acidosis' http://www.ebi.ac.uk/efo/EFO_0003509 obsolete_granular eminence 'obsolete_granular eminence' SubClassOf 'obsolete class' 'obsolete_granular eminence' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_18 Distal renal tubular acidosis 'Distal renal tubular acidosis' SubClassOf 'Primary renal tubular acidosis' 'Distal renal tubular acidosis' SubClassOf 'Primary renal tubular acidosis' http://purl.obolibrary.org/obo/HP_0000023 Inguinal hernia 'Inguinal hernia' SubClassOf 'Hernia of the abdominal wall' 'Inguinal hernia' SubClassOf 'Hernia of the abdominal wall' http://www.orpha.net/ORDO/Orphanet_19 2-hydroxyglutaric aciduria '2-hydroxyglutaric aciduria' SubClassOf 'Cerebral organic aciduria' '2-hydroxyglutaric aciduria' SubClassOf 'Neurometabolic disease' '2-hydroxyglutaric aciduria' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016399 '2-hydroxyglutaric aciduria' SubClassOf 'Neurometabolic disease' '2-hydroxyglutaric aciduria' SubClassOf 'Cerebral organic aciduria' http://www.orpha.net/ORDO/Orphanet_169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta 'T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta' SubClassOf 'T-B+ severe combined immunodeficiency' 'T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta' SubClassOf 'T-B+ severe combined immunodeficiency' http://www.orpha.net/ORDO/Orphanet_268961 Isolated focal cortical dysplasia type I 'Isolated focal cortical dysplasia type I' SubClassOf 'Isolated focal cortical dysplasia' 'Isolated focal cortical dysplasia type I' SubClassOf 'Isolated focal cortical dysplasia' http://www.orpha.net/ORDO/Orphanet_10 48,XXYY syndrome '48,XXYY syndrome' SubClassOf 'Sex chromosome disorder of sex development' '48,XXYY syndrome' SubClassOf 'X and Y chromosomal anomaly' '48,XXYY syndrome' SubClassOf 'Syndromic urogenital tract malformation' '48,XXYY syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 '48,XXYY syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 '48,XXYY syndrome' SubClassOf 'Sex chromosome disorder of sex development' '48,XXYY syndrome' SubClassOf 'X and Y chromosomal anomaly' '48,XXYY syndrome' SubClassOf 'Syndromic urogenital tract malformation' '48,XXYY syndrome' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_11 Pentasomy X 'Pentasomy X' SubClassOf 'Polysomy of X chromosome' 'Pentasomy X' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Pentasomy X' SubClassOf 'Polysomy of X chromosome' http://www.orpha.net/ORDO/Orphanet_169157 T-B+ severe combined immunodeficiency due to CD45 deficiency 'T-B+ severe combined immunodeficiency due to CD45 deficiency' SubClassOf 'T-B+ severe combined immunodeficiency' 'T-B+ severe combined immunodeficiency due to CD45 deficiency' SubClassOf 'T-B+ severe combined immunodeficiency' http://purl.obolibrary.org/obo/PO_0001002 fruit development stage 'fruit development stage' SubClassOf 'plant structure development stage' 'fruit development stage' SubClassOf 'plant structure development stage' http://www.orpha.net/ORDO/Orphanet_314555 Craniofacial dysplasia-osteopenia syndrome 'Craniofacial dysplasia-osteopenia syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020018 'Craniofacial dysplasia-osteopenia syndrome' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://www.orpha.net/ORDO/Orphanet_169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency 'T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency' SubClassOf 'T-B+ severe combined immunodeficiency' 'T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency' SubClassOf 'T-B+ severe combined immunodeficiency' 'T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021147 http://www.ebi.ac.uk/efo/EFO_0004820 sex ratio 'sex ratio' SubClassOf 'is_about' some 'population' http://www.ebi.ac.uk/efo/EFO_0004824 obsolete_behavior or behavioral disorder measurement 'obsolete_behavior or behavioral disorder measurement' SubClassOf 'obsolete class' 'obsolete_behavior or behavioral disorder measurement' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_23 Argininosuccinic aciduria 'Argininosuccinic aciduria' SubClassOf 'Disorder of urea cycle metabolism and ammonia detoxification' 'Argininosuccinic aciduria' SubClassOf 'Disorder of urea cycle metabolism and ammonia detoxification' http://www.ebi.ac.uk/efo/EFO_0004828 genetic variation 'genetic variation' SubClassOf 'is_about' some 'genome' 'genetic variation' SubClassOf 'is_about' some 'population' http://www.orpha.net/ORDO/Orphanet_183435 Inherited ichthyosis 'Inherited ichthyosis' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0019269 and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) 'Inherited ichthyosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 'Inherited ichthyosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019269 http://www.orpha.net/ORDO/Orphanet_24 Fumaric aciduria 'Fumaric aciduria' SubClassOf 'Tricarboxylic acid cycle disorder' 'Fumaric aciduria' SubClassOf 'Neurometabolic disease' 'Fumaric aciduria' SubClassOf 'Mitochondrial disease with peripheral neuropathy' 'Fumaric aciduria' SubClassOf 'Tricarboxylic acid cycle disorder' 'Fumaric aciduria' SubClassOf 'Cerebral organic aciduria' 'Fumaric aciduria' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016402 'Fumaric aciduria' SubClassOf 'Neurometabolic disease' 'Fumaric aciduria' SubClassOf 'Mitochondrial disease with peripheral neuropathy' http://www.ebi.ac.uk/efo/EFO_0004825 temperament and character inventory 'temperament and character inventory' SubClassOf 'is_about' some 'personality trait' http://www.orpha.net/ORDO/Orphanet_25 Glutaryl-CoA dehydrogenase deficiency 'Glutaryl-CoA dehydrogenase deficiency' SubClassOf 'Cerebral organic aciduria' 'Glutaryl-CoA dehydrogenase deficiency' SubClassOf 'Neurometabolic disease' 'Glutaryl-CoA dehydrogenase deficiency' SubClassOf 'Cerebral organic aciduria' 'Glutaryl-CoA dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000129 'Glutaryl-CoA dehydrogenase deficiency' SubClassOf 'Neurometabolic disease' http://www.ebi.ac.uk/efo/EFO_0004826 anti-neutrophil antibody associated vasculitis 'anti-neutrophil antibody associated vasculitis' SubClassOf 'type II hypersensitivity reaction disease' http://www.orpha.net/ORDO/Orphanet_26 Methylmalonic acidemia with homocystinuria 'Methylmalonic acidemia with homocystinuria' SubClassOf 'Disorder of cobalamin metabolism and transport' 'Methylmalonic acidemia with homocystinuria' SubClassOf 'Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder' 'Methylmalonic acidemia with homocystinuria' SubClassOf 'Classic organic aciduria' 'Methylmalonic acidemia with homocystinuria' DisjointWith 'Homocystinuria without methylmalonic aciduria' 'Methylmalonic acidemia with homocystinuria' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002012 'Methylmalonic acidemia with homocystinuria' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0002012 and http://purl.obolibrary.org/obo/MONDO_0004737 'Methylmalonic acidemia with homocystinuria' SubClassOf 'Disorder of cobalamin metabolism and transport' 'Methylmalonic acidemia with homocystinuria' SubClassOf 'Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder' 'Methylmalonic acidemia with homocystinuria' SubClassOf 'Classic organic aciduria' 'Methylmalonic acidemia with homocystinuria' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004737 http://www.orpha.net/ORDO/Orphanet_28 Vitamin B12-responsive methylmalonic acidemia 'Vitamin B12-responsive methylmalonic acidemia' SubClassOf 'Disorder of cobalamin metabolism and transport' 'Vitamin B12-responsive methylmalonic acidemia' SubClassOf 'Methylmalonic acidemia without homocystinuria' 'Vitamin B12-responsive methylmalonic acidemia' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'Vitamin B12-responsive methylmalonic acidemia' SubClassOf 'Disorder of cobalamin metabolism and transport' 'Vitamin B12-responsive methylmalonic acidemia' SubClassOf 'Methylmalonic acidemia without homocystinuria' 'Vitamin B12-responsive methylmalonic acidemia' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' http://www.orpha.net/ORDO/Orphanet_29 Mevalonic aciduria 'Mevalonic aciduria' SubClassOf 'Metabolic disease with cataract' 'Mevalonic aciduria' SubClassOf 'Mevalonate kinase deficiency' 'Mevalonic aciduria' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Mevalonic aciduria' SubClassOf 'Metabolic disease with cataract' 'Mevalonic aciduria' SubClassOf 'Peroxisomal disease' 'Mevalonic aciduria' SubClassOf 'Mevalonate kinase deficiency' http://www.orpha.net/ORDO/Orphanet_169150 Immunodeficiency due to a late component of complements deficiency 'Immunodeficiency due to a late component of complements deficiency' SubClassOf 'Immunodeficiency due to a complement cascade protein anomaly' 'Immunodeficiency due to a late component of complements deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003832 'Immunodeficiency due to a late component of complements deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044971 http://www.orpha.net/ORDO/Orphanet_268950 Cerebral cortical dysplasia 'Cerebral cortical dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015572 'Cerebral cortical dysplasia' SubClassOf 'disease has feature' some http://purl.obolibrary.org/obo/MONDO_0100035 http://www.orpha.net/ORDO/Orphanet_20 3-hydroxy-3-methylglutaric aciduria '3-hydroxy-3-methylglutaric aciduria' SubClassOf 'Classic organic aciduria' '3-hydroxy-3-methylglutaric aciduria' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017713 '3-hydroxy-3-methylglutaric aciduria' SubClassOf 'Classic organic aciduria' http://www.ebi.ac.uk/efo/EFO_0003400 obsolete_trunk mesoderm anlage 'obsolete_trunk mesoderm anlage' SubClassOf 'obsolete class' 'obsolete_trunk mesoderm anlage' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004731 eye measurement 'eye measurement' EquivalentTo 'is_about' some 'eye' http://www.ebi.ac.uk/efo/EFO_0003401 obsolete_ventral nerve cord primordium 'obsolete_ventral nerve cord primordium' SubClassOf 'obsolete class' 'obsolete_ventral nerve cord primordium' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004732 lipoprotein measurement 'lipoprotein measurement' EquivalentTo 'measurement' and ('is_about' some 'lipoprotein') http://www.ebi.ac.uk/efo/EFO_0004730 hormone measurement 'hormone measurement' EquivalentTo ('is_about' some 'hormone') or ('is_about' some 'hormone role') http://www.ebi.ac.uk/efo/EFO_0003404 obsolete_embryonic tracheole 'obsolete_embryonic tracheole' SubClassOf 'obsolete class' 'obsolete_embryonic tracheole' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004735 serum alanine aminotransferase measurement 'serum alanine aminotransferase measurement' SubClassOf 'is_about' some 'protein' 'serum alanine aminotransferase measurement' SubClassOf 'is_about' some 'enzyme' 'serum alanine aminotransferase measurement' SubClassOf 'is_about' some 'liver disease' 'serum alanine aminotransferase measurement' SubClassOf 'is_about' some 'liver' http://www.ebi.ac.uk/efo/EFO_0003405 obsolete_embryonic proventriculus inner layer 'obsolete_embryonic proventriculus inner layer' SubClassOf 'obsolete class' 'obsolete_embryonic proventriculus inner layer' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004736 aspartate aminotransferase measurement 'aspartate aminotransferase measurement' SubClassOf 'is_about' some 'protein' 'aspartate aminotransferase measurement' SubClassOf 'is_about' some 'liver disease' 'aspartate aminotransferase measurement' SubClassOf 'is_about' some 'enzyme' 'aspartate aminotransferase measurement' SubClassOf 'is_about' some 'liver' http://www.ebi.ac.uk/efo/EFO_0003402 obsolete_ventral midline neuron 'obsolete_ventral midline neuron' SubClassOf 'obsolete class' 'obsolete_ventral midline neuron' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004733 anti-cyclic citrullinated peptide antibody measurement 'anti-cyclic citrullinated peptide antibody measurement' SubClassOf 'is_about' some 'protein' 'anti-cyclic citrullinated peptide antibody measurement' SubClassOf 'is_about' some ('rheumatoid arthritis' and ('has_role' some 'biomarker')) 'anti-cyclic citrullinated peptide antibody measurement' SubClassOf 'is_about' some 'antibody' http://www.ebi.ac.uk/efo/EFO_0003403 obsolete_ventral midline glia 'obsolete_ventral midline glia' SubClassOf 'obsolete class' 'obsolete_ventral midline glia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003408 obsolete_larval labral segment 'obsolete_larval labral segment' SubClassOf 'obsolete class' 'obsolete_larval labral segment' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004739 circulating cell free DNA measurement 'circulating cell free DNA measurement' SubClassOf 'is_about' some 'DNA' 'circulating cell free DNA measurement' SubClassOf 'is_about' some ('cancer' and ('has_role' some 'biomarker')) http://www.ebi.ac.uk/efo/EFO_0003409 obsolete_embryonic labial sensory complex 'obsolete_embryonic labial sensory complex' SubClassOf 'obsolete class' 'obsolete_embryonic labial sensory complex' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003406 obsolete_embryonic proventriculus intermediate layer 'obsolete_embryonic proventriculus intermediate layer' SubClassOf 'obsolete class' 'obsolete_embryonic proventriculus intermediate layer' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_183524 Rare genetic bone disease 'Rare genetic bone disease' SubClassOf 'has_disease_location' some 'bone' http://www.ebi.ac.uk/efo/EFO_0003407 obsolete_embryonic proventriculus outer layer 'obsolete_embryonic proventriculus outer layer' SubClassOf 'obsolete class' 'obsolete_embryonic proventriculus outer layer' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004738 tocopherol measurement 'tocopherol measurement' SubClassOf 'is_about' some 'vitamin' http://www.orpha.net/ORDO/Orphanet_183527 Genetic bone tumor 'Genetic bone tumor' SubClassOf 'bone disease' 'Genetic bone tumor' SubClassOf 'has_disease_location' some 'bone' http://purl.obolibrary.org/obo/CHEBI_65097 2-hydroxypalmitate '2-hydroxypalmitate' SubClassOf 'lipid' '2-hydroxypalmitate' SubClassOf 'lipid' http://www.ebi.ac.uk/efo/EFO_0004720 prion disease 'prion disease' SubClassOf 'central nervous system disease' 'prion disease' SubClassOf 'central nervous system infection' 'prion disease' SubClassOf 'brain disease' http://www.ebi.ac.uk/efo/EFO_0004721 obsolete_Gaucher disease 'obsolete_Gaucher disease' SubClassOf 'obsolete class' 'obsolete_Gaucher disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004724 carotid-femoral pulse wave velocity 'carotid-femoral pulse wave velocity' SubClassOf 'is_about' some 'cardiovascular disease' 'carotid-femoral pulse wave velocity' SubClassOf 'is_about' some 'cardiovascular system' http://www.ebi.ac.uk/efo/EFO_0004723 coronary artery calcification 'coronary artery calcification' SubClassOf 'inheres in part of' some 'coronary artery' http://www.ebi.ac.uk/efo/EFO_0004728 serum amyloid A protein measurement 'serum amyloid A protein measurement' SubClassOf 'is_about' some 'lipoprotein' 'serum amyloid A protein measurement' SubClassOf 'is_about' some 'inflammatory response' 'serum amyloid A protein measurement' SubClassOf 'is_about' some 'cancer' http://www.orpha.net/ORDO/Orphanet_183533 Genetic multiple congenital anomalies/dysmorphic syndrome 'Genetic multiple congenital anomalies/dysmorphic syndrome' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0019042 and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) 'Genetic multiple congenital anomalies/dysmorphic syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003847 'Genetic multiple congenital anomalies/dysmorphic syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019042 'Genetic multiple congenital anomalies/dysmorphic syndrome' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://www.ebi.ac.uk/efo/EFO_0004729 vitamin measurement 'vitamin measurement' EquivalentTo 'measurement' and ('is_about' some 'vitamin') http://www.ebi.ac.uk/efo/EFO_0004727 metabolite 'metabolite' EquivalentTo 'has_role' some 'metabolite role' http://www.orpha.net/ORDO/Orphanet_183536 Genetic congenital limb malformation 'Genetic congenital limb malformation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019755 http://www.orpha.net/ORDO/Orphanet_183539 Genetic renal or urinary tract malformation 'Genetic renal or urinary tract malformation' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Genetic renal or urinary tract malformation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019755 'Genetic renal or urinary tract malformation' SubClassOf 'kidney disease' http://www.orpha.net/ORDO/Orphanet_404 Familial hyperaldosteronism type II 'Familial hyperaldosteronism type II' SubClassOf 'Familial hyperaldosteronism' 'Familial hyperaldosteronism type II' SubClassOf 'adrenal gland neoplasm' 'Familial hyperaldosteronism type II' SubClassOf 'Familial hyperaldosteronism' 'Familial hyperaldosteronism type II' SubClassOf http://purl.obolibrary.org/obo/MONDO_0036591 'Familial hyperaldosteronism type II' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015077 http://www.orpha.net/ORDO/Orphanet_206634 Genetic skeletal muscle disease 'Genetic skeletal muscle disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003939 'Genetic skeletal muscle disease' SubClassOf 'neuromuscular disease' 'Genetic skeletal muscle disease' SubClassOf 'Genetic peripheral neuropathy' http://www.ebi.ac.uk/efo/EFO_0004750 interleukin 10 measurement 'interleukin 10 measurement' SubClassOf 'is_about' some 'inflammatory response' 'interleukin 10 measurement' SubClassOf 'is_about' some 'cytokine' 'interleukin 10 measurement' SubClassOf 'is_about' some 'interleukin' http://www.ebi.ac.uk/efo/EFO_0003422 obsolete_polster 'obsolete_polster' SubClassOf 'obsolete class' 'obsolete_polster' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004753 interleukin 12 measurement 'interleukin 12 measurement' SubClassOf 'is_about' some 'cytokine' 'interleukin 12 measurement' SubClassOf 'is_about' some 'interleukin' http://www.ebi.ac.uk/efo/EFO_0003423 obsolete_presumptive forebrain 'obsolete_presumptive forebrain' SubClassOf 'obsolete class' 'obsolete_presumptive forebrain' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004754 interleukin 1 receptor antagonist measurement 'interleukin 1 receptor antagonist measurement' SubClassOf 'is_about' some 'inflammatory response' 'interleukin 1 receptor antagonist measurement' SubClassOf 'is_about' some 'cytokine' http://www.ebi.ac.uk/efo/EFO_0003420 obsolete_olfactory placode 'obsolete_olfactory placode' SubClassOf 'obsolete class' 'obsolete_olfactory placode' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004751 CCL4 measurement 'CCL4 measurement' SubClassOf 'is_about' some 'cytokine' 'CCL4 measurement' SubClassOf 'is_about' some 'Alzheimer's disease' http://www.ebi.ac.uk/efo/EFO_0003421 obsolete_presumptive segmental plate 'obsolete_presumptive segmental plate' SubClassOf 'obsolete class' 'obsolete_presumptive segmental plate' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004752 parathyroid hormone measurement 'parathyroid hormone measurement' SubClassOf 'is_about' some 'hormone' 'parathyroid hormone measurement' SubClassOf ('is_about' some 'Hypocalcemia') or ('is_about' some 'Hypercalcemia') or ('is_about' some 'parathyroid disease') or ('is_about' some 'Familial isolated hypoparathyroidism') http://www.ebi.ac.uk/efo/EFO_0003426 obsolete_axial chorda mesoderm 'obsolete_axial chorda mesoderm' SubClassOf 'obsolete class' 'obsolete_axial chorda mesoderm' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003427 obsolete_germ ring 'obsolete_germ ring' SubClassOf 'obsolete class' 'obsolete_germ ring' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003424 obsolete_presumptive neural plate 'obsolete_presumptive neural plate' SubClassOf 'obsolete class' 'obsolete_presumptive neural plate' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003425 obsolete_enveloping layer 'obsolete_enveloping layer' SubClassOf 'obsolete class' 'obsolete_enveloping layer' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_183500 Genetic neurodegenerative disease 'Genetic neurodegenerative disease' SubClassOf 'Rare genetic neurological disorder' 'Genetic neurodegenerative disease' SubClassOf 'neurodegenerative disease' 'Genetic neurodegenerative disease' SubClassOf 'has_disease_location' some 'brain' 'Genetic neurodegenerative disease' EquivalentTo 'neurodegenerative disease' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) 'Genetic neurodegenerative disease' SubClassOf 'Rare genetic neurological disorder' 'Genetic neurodegenerative disease' SubClassOf 'realized_in' some ('disease course' and ('has part' some 'neurodegeneration')) 'Genetic neurodegenerative disease' SubClassOf 'neurodegenerative disease' http://www.ebi.ac.uk/efo/EFO_0003428 obsolete_liver primordium 'obsolete_liver primordium' SubClassOf 'obsolete class' 'obsolete_liver primordium' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003429 obsolete_otic placode 'obsolete_otic placode' SubClassOf 'obsolete class' 'obsolete_otic placode' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_183503 Genetic central nervous system and retinal vascular disease 'Genetic central nervous system and retinal vascular disease' SubClassOf 'Rare genetic neurological disorder' 'Genetic central nervous system and retinal vascular disease' SubClassOf 'Rare genetic neurological disorder' 'Genetic central nervous system and retinal vascular disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043218 'Genetic central nervous system and retinal vascular disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020676 'Genetic central nervous system and retinal vascular disease' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0020676 and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) http://www.orpha.net/ORDO/Orphanet_183509 Rare genetic headache 'Rare genetic headache' SubClassOf 'has_disease_location' some 'head' http://www.orpha.net/ORDO/Orphanet_206644 Progressive muscular dystrophy 'Progressive muscular dystrophy' SubClassOf 'Muscular dystrophy' 'Progressive muscular dystrophy' SubClassOf 'Muscular dystrophy' http://www.orpha.net/ORDO/Orphanet_415 Hyperornithinemia-hyperammonemia-homocitrullinuria 'Hyperornithinemia-hyperammonemia-homocitrullinuria' SubClassOf 'Disorder of urea cycle metabolism and ammonia detoxification' 'Hyperornithinemia-hyperammonemia-homocitrullinuria' SubClassOf 'Disorder of urea cycle metabolism and ammonia detoxification' 'Hyperornithinemia-hyperammonemia-homocitrullinuria' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 http://www.orpha.net/ORDO/Orphanet_414 Gyrate atrophy of choroid and retina 'Gyrate atrophy of choroid and retina' SubClassOf 'Rare hereditary metabolic disease with peripheral neuropathy' 'Gyrate atrophy of choroid and retina' SubClassOf 'Metabolic disease with cataract' 'Gyrate atrophy of choroid and retina' SubClassOf 'Unclassified familial retinal dystrophy' 'Gyrate atrophy of choroid and retina' SubClassOf 'Metabolic disease with pigmentary retinitis' 'Gyrate atrophy of choroid and retina' SubClassOf 'Disorder of ornithine metabolism' 'Gyrate atrophy of choroid and retina' SubClassOf 'Rare hereditary metabolic disease with peripheral neuropathy' 'Gyrate atrophy of choroid and retina' SubClassOf 'Unclassified familial retinal dystrophy' 'Gyrate atrophy of choroid and retina' SubClassOf 'Metabolic disease with cataract' 'Gyrate atrophy of choroid and retina' SubClassOf 'Metabolic disease with pigmentary retinitis' 'Gyrate atrophy of choroid and retina' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001898 'Gyrate atrophy of choroid and retina' SubClassOf 'Disorder of ornithine metabolism' http://www.orpha.net/ORDO/Orphanet_413 Hyperlipoproteinemia type 4 'Hyperlipoproteinemia type 4' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001336 http://www.orpha.net/ORDO/Orphanet_412 Hyperlipoproteinemia type 3 'Hyperlipoproteinemia type 3' SubClassOf 'Combined hyperlipidemia' 'Hyperlipoproteinemia type 3' SubClassOf 'Combined hyperlipidemia' http://www.ebi.ac.uk/efo/EFO_0003411 obsolete_embryonic hypocerebral ganglion 'obsolete_embryonic hypocerebral ganglion' SubClassOf 'obsolete class' 'obsolete_embryonic hypocerebral ganglion' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004742 renal system measurement 'renal system measurement' EquivalentTo 'is_about' some 'kidney disease' http://www.ebi.ac.uk/efo/EFO_0003412 obsolete_lateral cord glia 'obsolete_lateral cord glia' SubClassOf 'obsolete class' 'obsolete_lateral cord glia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004741 blood urea nitrogen measurement 'blood urea nitrogen measurement' SubClassOf 'renal system measurement' 'blood urea nitrogen measurement' SubClassOf http://www.ebi.ac.uk/efo/EFO_0009795 'blood urea nitrogen measurement' SubClassOf 'is_about' some 'kidney disease' 'blood urea nitrogen measurement' SubClassOf 'is_about' some 'renal system' http://www.ebi.ac.uk/efo/EFO_0003415 obsolete_embryonic ventral apodeme 'obsolete_embryonic ventral apodeme' SubClassOf 'obsolete class' 'obsolete_embryonic ventral apodeme' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004746 lipoprotein-associated phospholipase A(2) measurement 'lipoprotein-associated phospholipase A(2) measurement' SubClassOf 'is_about' some 'cardiovascular system' 'lipoprotein-associated phospholipase A(2) measurement' SubClassOf 'is_about' some 'lipoprotein' 'lipoprotein-associated phospholipase A(2) measurement' SubClassOf 'is_about' some 'cardiovascular disease' 'lipoprotein-associated phospholipase A(2) measurement' SubClassOf 'is_about' some 'enzyme' http://www.ebi.ac.uk/efo/EFO_0003416 obsolete_lateral cord surface glia 'obsolete_lateral cord surface glia' SubClassOf 'obsolete class' 'obsolete_lateral cord surface glia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004747 protein measurement 'protein measurement' EquivalentTo 'measurement' and ('is_about' some 'protein') http://www.orpha.net/ORDO/Orphanet_206647 Myotonic dystrophy 'Myotonic dystrophy' SubClassOf 'Progressive muscular dystrophy' 'Myotonic dystrophy' SubClassOf 'Myotonic syndrome' 'Myotonic dystrophy' SubClassOf 'Muscular dystrophy' 'Myotonic dystrophy' SubClassOf 'Progressive muscular dystrophy' 'Myotonic dystrophy' SubClassOf 'Myotonic syndrome' http://www.ebi.ac.uk/efo/EFO_0003413 obsolete_lateral cord neuron 'obsolete_lateral cord neuron' SubClassOf 'obsolete class' 'obsolete_lateral cord neuron' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004744 matrix metalloproteinase measurement 'matrix metalloproteinase measurement' SubClassOf 'is_about' some 'protein' 'matrix metalloproteinase measurement' SubClassOf 'is_about' some 'Alzheimer's disease' http://www.ebi.ac.uk/efo/EFO_0003414 obsolete_embryonic leading edge cell 'obsolete_embryonic leading edge cell' SubClassOf 'obsolete class' 'obsolete_embryonic leading edge cell' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004745 NT-proBNP measurement 'NT-proBNP measurement' SubClassOf 'is_about' some 'cardiovascular disease' 'NT-proBNP measurement' SubClassOf 'is_about' some 'protein' http://www.ebi.ac.uk/efo/EFO_0003419 obsolete_forerunner cell group 'obsolete_forerunner cell group' SubClassOf 'obsolete class' 'obsolete_forerunner cell group' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003417 obsolete_ring gland primordium 'obsolete_ring gland primordium' SubClassOf 'obsolete class' 'obsolete_ring gland primordium' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004748 thyroid stimulating hormone measurement 'thyroid stimulating hormone measurement' SubClassOf 'is_about' some 'thyroid gland' 'thyroid stimulating hormone measurement' SubClassOf 'is_about' some 'hormone' 'thyroid stimulating hormone measurement' SubClassOf 'is_about' some 'protein' http://www.ebi.ac.uk/efo/EFO_0003418 obsolete_cibarium primordium 'obsolete_cibarium primordium' SubClassOf 'obsolete class' 'obsolete_cibarium primordium' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004749 CCL2 measurement 'CCL2 measurement' SubClassOf 'is_about' some 'Alzheimer's disease' 'CCL2 measurement' SubClassOf 'is_about' some 'cytokine' http://purl.obolibrary.org/obo/PO_0025074 embryo sac 'embryo sac' SubClassOf 'whole plant' 'embryo sac' SubClassOf 'whole plant' http://www.orpha.net/ORDO/Orphanet_409 Hyperkeratosis lenticularis perstans 'Hyperkeratosis lenticularis perstans' SubClassOf 'Other genetic epidermal disease' 'Hyperkeratosis lenticularis perstans' SubClassOf 'Other genetic epidermal disease' 'Hyperkeratosis lenticularis perstans' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019274 http://www.orpha.net/ORDO/Orphanet_408 Isolated glycerol kinase deficiency 'Isolated glycerol kinase deficiency' SubClassOf 'Glycerol kinase deficiency' 'Isolated glycerol kinase deficiency' EquivalentTo 'Glycerol kinase deficiency' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021128) 'Isolated glycerol kinase deficiency' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021128 'Isolated glycerol kinase deficiency' SubClassOf 'Glycerol kinase deficiency' http://www.orpha.net/ORDO/Orphanet_407 Glycine encephalopathy 'Glycine encephalopathy' SubClassOf 'Neurometabolic disease' 'Glycine encephalopathy' SubClassOf 'Disorder of serine or glycine metabolism' 'Glycine encephalopathy' SubClassOf 'Neurometabolic disease' 'Glycine encephalopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016399 'Glycine encephalopathy' SubClassOf 'Cerebral organic aciduria' 'Glycine encephalopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0045020 'Glycine encephalopathy' SubClassOf 'metabolic disease' 'Glycine encephalopathy' SubClassOf 'Disorder of serine or glycine metabolism' http://www.orpha.net/ORDO/Orphanet_405 Familial hypocalciuric hypercalcemia 'Familial hypocalciuric hypercalcemia' SubClassOf 'Primary bone dysplasia with defective bone mineralization' 'Familial hypocalciuric hypercalcemia' SubClassOf 'Rare genetic parathyroid disease and phosphocalcic metabolism disorder' 'Familial hypocalciuric hypercalcemia' SubClassOf 'calcium metabolic disease' 'Familial hypocalciuric hypercalcemia' SubClassOf 'participates_in' some 'calcium ion homeostasis' 'Familial hypocalciuric hypercalcemia' SubClassOf 'Primary bone dysplasia with defective bone mineralization' 'Familial hypocalciuric hypercalcemia' SubClassOf 'Rare genetic parathyroid disease and phosphocalcic metabolism disorder' 'Familial hypocalciuric hypercalcemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017024 'Familial hypocalciuric hypercalcemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001566 'Familial hypocalciuric hypercalcemia' SubClassOf 'Inborn errors of metabolism' 'Familial hypocalciuric hypercalcemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019061 'Familial hypocalciuric hypercalcemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 http://www.orpha.net/ORDO/Orphanet_425 Apolipoprotein A-I deficiency 'Apolipoprotein A-I deficiency' SubClassOf 'Hypoalphalipoproteinemia' 'Apolipoprotein A-I deficiency' SubClassOf 'Hypoalphalipoproteinemia' http://www.orpha.net/ORDO/Orphanet_424 Familial hyperthyroidism due to mutations in TSH receptor 'Familial hyperthyroidism due to mutations in TSH receptor' SubClassOf 'Genetic hypertension' 'Familial hyperthyroidism due to mutations in TSH receptor' SubClassOf 'Hyperthyroidism' 'Familial hyperthyroidism due to mutations in TSH receptor' SubClassOf 'Genetic hypertension' http://www.orpha.net/ORDO/Orphanet_423 Malignant hyperthermia 'Malignant hyperthermia' SubClassOf 'muscular channelopathy' 'Malignant hyperthermia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018753 'Malignant hyperthermia' SubClassOf 'Genetic peripheral neuropathy' http://www.orpha.net/ORDO/Orphanet_206656 Non-dystrophic myopathy 'Non-dystrophic myopathy' SubClassOf 'Genetic skeletal muscle disease' 'Non-dystrophic myopathy' SubClassOf 'Genetic skeletal muscle disease' 'Non-dystrophic myopathy' SubClassOf 'myopathy' http://purl.obolibrary.org/obo/PO_0025029 shoot axis 'shoot axis' SubClassOf 'shoot system' 'shoot axis' SubClassOf 'shoot system' http://www.ebi.ac.uk/efo/EFO_0003440 obsolete_presumptive hindbrain 'obsolete_presumptive hindbrain' SubClassOf 'obsolete class' 'obsolete_presumptive hindbrain' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004771 visual cortical surface area measurement 'visual cortical surface area measurement' SubClassOf 'is_about' some 'visual cortex' 'visual cortical surface area measurement' SubClassOf 'is_about' some 'central nervous system' http://www.orpha.net/ORDO/Orphanet_422 Idiopathic and/or familial pulmonary arterial hypertension 'Idiopathic and/or familial pulmonary arterial hypertension' SubClassOf 'pulmonary arterial hypertension' 'Idiopathic and/or familial pulmonary arterial hypertension' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001999 'Idiopathic and/or familial pulmonary arterial hypertension' SubClassOf 'pulmonary arterial hypertension' http://www.ebi.ac.uk/efo/EFO_0003441 obsolete_presumptive telencephalon 'obsolete_presumptive telencephalon' SubClassOf 'obsolete class' 'obsolete_presumptive telencephalon' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004772 early onset hypertension 'early onset hypertension' SubClassOf 'hypertension' 'early onset hypertension' SubClassOf 'hypertension' http://www.orpha.net/ORDO/Orphanet_206650 Autosomal dominant distal myopathy 'Autosomal dominant distal myopathy' SubClassOf 'Distal myopathy' 'Autosomal dominant distal myopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 'Autosomal dominant distal myopathy' SubClassOf 'Distal myopathy' http://www.ebi.ac.uk/efo/EFO_0002110 AN3CA 'AN3CA' SubClassOf 'bearer_of' some 'uterine carcinoma' 'AN3CA' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('uterus' and ('part_of' some 'Homo sapiens')))) http://www.orpha.net/ORDO/Orphanet_206653 Autosomal recessive distal myopathy 'Autosomal recessive distal myopathy' SubClassOf 'Distal myopathy' 'Autosomal recessive distal myopathy' SubClassOf 'autosomal recessive disease' 'Autosomal recessive distal myopathy' SubClassOf 'Distal myopathy' http://www.ebi.ac.uk/efo/EFO_0004770 ovarian reserve 'ovarian reserve' SubClassOf 'is_about' some 'female reproductive system' http://www.ebi.ac.uk/efo/EFO_0002112 AsPC1 'AsPC1' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('pancreas' and ('part_of' some 'organism')))) 'AsPC1' SubClassOf 'bearer_of' some 'pancreatic carcinoma' http://www.ebi.ac.uk/efo/EFO_0003444 obsolete_presumptive shield 'obsolete_presumptive shield' SubClassOf 'obsolete class' 'obsolete_presumptive shield' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004775 toxic epidermal necrolysis 'toxic epidermal necrolysis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017396 'toxic epidermal necrolysis' SubClassOf 'has_disease_location' some 'zone of skin' http://www.ebi.ac.uk/efo/EFO_0002111 ARH77 'ARH77' SubClassOf 'cancer cell line' 'ARH77' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lymphatic part of lymphoid system' and ('part_of' some 'organism')))) 'ARH77' SubClassOf 'bearer_of' some 'plasma cell neoplasm' 'ARH77' SubClassOf 'lymphoma or leukaemia cell line' http://www.ebi.ac.uk/efo/EFO_0003445 obsolete_posterior lateral line placode 'obsolete_posterior lateral line placode' SubClassOf 'obsolete class' 'obsolete_posterior lateral line placode' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004776 alcohol and nicotine codependence 'alcohol and nicotine codependence' SubClassOf 'drug dependence' 'alcohol and nicotine codependence' SubClassOf 'drug dependence' http://www.ebi.ac.uk/efo/EFO_0002114 obsolete_BE2C 'obsolete_BE2C' SubClassOf 'obsolete class' 'obsolete_BE2C' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003442 obsolete_presumptive diencephalon 'obsolete_presumptive diencephalon' SubClassOf 'obsolete class' 'obsolete_presumptive diencephalon' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002113 BDCM 'BDCM' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lymphatic part of lymphoid system' and ('part_of' some 'Homo sapiens')))) 'BDCM' SubClassOf 'bearer_of' some 'acute myeloid leukemia' http://www.ebi.ac.uk/efo/EFO_0003443 obsolete_presumptive paraxial mesoderm 'obsolete_presumptive paraxial mesoderm' SubClassOf 'obsolete class' 'obsolete_presumptive paraxial mesoderm' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002116 BHT101 'BHT101' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('thyroid gland' and ('part_of' some 'Homo sapiens')))) 'BHT101' SubClassOf 'bearer_of' some 'thyroid carcinoma' http://www.ebi.ac.uk/efo/EFO_0003448 obsolete_presumptive rhombomere 6 'obsolete_presumptive rhombomere 6' SubClassOf 'obsolete class' 'obsolete_presumptive rhombomere 6' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004779 CHAOS measure 'CHAOS measure' SubClassOf 'is_about' some 'mental or behavioural disorder' http://www.orpha.net/ORDO/Orphanet_206659 Non-dystrophic myopathy with collagen 6 anomaly 'Non-dystrophic myopathy with collagen 6 anomaly' SubClassOf 'Non-dystrophic myopathy' 'Non-dystrophic myopathy with collagen 6 anomaly' SubClassOf 'Qualitative or quantitative defects of collagen 6' 'Non-dystrophic myopathy with collagen 6 anomaly' SubClassOf 'Non-dystrophic myopathy' 'Non-dystrophic myopathy with collagen 6 anomaly' SubClassOf 'Qualitative or quantitative defects of collagen 6' http://www.ebi.ac.uk/efo/EFO_0002115 BFTC905 'BFTC905' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('urinary bladder' and ('part_of' some 'Homo sapiens')))) 'BFTC905' SubClassOf 'bearer_of' some 'bladder carcinoma' http://www.ebi.ac.uk/efo/EFO_0003449 obsolete_presumptive rhombomere 5 'obsolete_presumptive rhombomere 5' SubClassOf 'obsolete class' 'obsolete_presumptive rhombomere 5' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002118 BV173 'BV173' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lymphatic part of lymphoid system' and ('part_of' some 'Homo sapiens')))) 'BV173' SubClassOf 'bearer_of' some 'chronic myelogenous leukemia' http://www.ebi.ac.uk/efo/EFO_0003446 obsolete_presumptive midbrain hindbrain boundary 'obsolete_presumptive midbrain hindbrain boundary' SubClassOf 'obsolete class' 'obsolete_presumptive midbrain hindbrain boundary' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004777 alcohol withdrawal 'alcohol withdrawal' SubClassOf 'drug dependence' 'alcohol withdrawal' SubClassOf 'substance withdrawal syndrome' 'alcohol withdrawal' SubClassOf 'drug dependence' http://www.ebi.ac.uk/efo/EFO_0002117 BM1604 'BM1604' SubClassOf 'bearer_of' some 'prostate carcinoma' 'BM1604' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('prostate gland' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003447 obsolete_presumptive rhombomere 7 'obsolete_presumptive rhombomere 7' SubClassOf 'obsolete class' 'obsolete_presumptive rhombomere 7' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002119 C32TG 'C32TG' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('zone of skin' and ('part_of' some 'Homo sapiens')))) 'C32TG' SubClassOf 'bearer_of' some 'amelanotic skin melanoma' http://purl.obolibrary.org/obo/HP_0001298 Encephalopathy 'Encephalopathy' SubClassOf 'abnormality of the nervous system' 'Encephalopathy' SubClassOf 'abnormality of the nervous system' http://www.orpha.net/ORDO/Orphanet_419 Hyperprolinemia type 1 'Hyperprolinemia type 1' SubClassOf 'Neurometabolic disease' 'Hyperprolinemia type 1' SubClassOf 'Disorder of proline metabolism' 'Hyperprolinemia type 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016399 'Hyperprolinemia type 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023419 'Hyperprolinemia type 1' SubClassOf 'Cerebral organic aciduria' 'Hyperprolinemia type 1' SubClassOf 'Neurometabolic disease' http://www.orpha.net/ORDO/Orphanet_418 Congenital adrenal hyperplasia 'Congenital adrenal hyperplasia' SubClassOf 'Adrenogenital syndrome' 'Congenital adrenal hyperplasia' SubClassOf 'Genetic chronic primary adrenal insufficiency' 'Congenital adrenal hyperplasia' SubClassOf 'Adrenogenital syndrome' 'Congenital adrenal hyperplasia' SubClassOf 'Genetic chronic primary adrenal insufficiency' 'Congenital adrenal hyperplasia' SubClassOf 'steroid inherited metabolic disorder' 'Congenital adrenal hyperplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015514 'Congenital adrenal hyperplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019590 http://purl.obolibrary.org/obo/HP_0001290 Generalized hypotonia 'Generalized hypotonia' SubClassOf 'muscular hypotonia' 'Generalized hypotonia' SubClassOf 'muscular hypotonia' http://www.orpha.net/ORDO/Orphanet_417 Neonatal severe primary hyperparathyroidism 'Neonatal severe primary hyperparathyroidism' SubClassOf 'Genetic hyperparathyroidism' 'Neonatal severe primary hyperparathyroidism' SubClassOf 'Primary bone dysplasia with defective bone mineralization' 'Neonatal severe primary hyperparathyroidism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 'Neonatal severe primary hyperparathyroidism' SubClassOf 'Primary bone dysplasia with defective bone mineralization' 'Neonatal severe primary hyperparathyroidism' SubClassOf 'Familial primary hyperparathyroidism' 'Neonatal severe primary hyperparathyroidism' SubClassOf 'bone neoplasm' http://www.orpha.net/ORDO/Orphanet_416 Primary hyperoxaluria 'Primary hyperoxaluria' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'Primary hyperoxaluria' SubClassOf 'Disorder of glyoxylate metabolism' 'Primary hyperoxaluria' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'Primary hyperoxaluria' SubClassOf 'Disorder of glyoxylate metabolism' http://www.orpha.net/ORDO/Orphanet_437 Hypophosphatemic rickets 'Hypophosphatemic rickets' SubClassOf 'rickets' http://www.orpha.net/ORDO/Orphanet_436 Hypophosphatasia 'Hypophosphatasia' SubClassOf 'Developmental anomaly of metabolic origin' 'Hypophosphatasia' SubClassOf 'Primary bone dysplasia with defective bone mineralization' 'Hypophosphatasia' SubClassOf 'Developmental anomaly of metabolic origin' 'Hypophosphatasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 'Hypophosphatasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 'Hypophosphatasia' SubClassOf 'Primary bone dysplasia with defective bone mineralization' 'Hypophosphatasia' SubClassOf 'Inborn errors of metabolism' http://www.orpha.net/ORDO/Orphanet_435 Ito hypomelanosis 'Ito hypomelanosis' SubClassOf 'Neurocutaneous syndrome with epilepsy' 'Ito hypomelanosis' SubClassOf 'Genetic hypopigmentation of the skin' 'Ito hypomelanosis' SubClassOf 'Pigmentation disorder with eye involvement, excluding albinism' 'Ito hypomelanosis' SubClassOf 'Ectodermal dysplasia syndrome' 'Ito hypomelanosis' SubClassOf 'Neurocutaneous syndrome with epilepsy' 'Ito hypomelanosis' SubClassOf 'Genetic hypopigmentation of the skin' 'Ito hypomelanosis' SubClassOf 'Pigmentation disorder with eye involvement, excluding albinism' 'Ito hypomelanosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Ito hypomelanosis' SubClassOf 'Ectodermal dysplasia syndrome' http://www.ebi.ac.uk/efo/EFO_0004760 t-tau measurement 't-tau measurement' SubClassOf 'is_about' some 'protein' 't-tau measurement' SubClassOf 'is_about' some 'central nervous system' 't-tau measurement' SubClassOf 'is_about' some ('cerebrospinal fluid' and ('has_role' some 'biomarker')) 't-tau measurement' SubClassOf 'is_about' some 'Alzheimer's disease' http://www.orpha.net/ORDO/Orphanet_206662 Inclusion myopathy 'Inclusion myopathy' SubClassOf 'Non-dystrophic myopathy' 'Inclusion myopathy' SubClassOf 'Non-dystrophic myopathy' http://www.ebi.ac.uk/efo/EFO_0003430 obsolete_pectoral fin bud 'obsolete_pectoral fin bud' SubClassOf 'obsolete class' 'obsolete_pectoral fin bud' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004761 uric acid measurement 'uric acid measurement' SubClassOf 'is_about' some 'renal system' 'uric acid measurement' SubClassOf 'is_about' some 'uric acid' 'uric acid measurement' SubClassOf 'is_about' some 'cardiovascular system' 'uric acid measurement' SubClassOf 'is_about' some 'insulin resistance' 'uric acid measurement' SubClassOf ('is_about' some 'cardiovascular disease') or ('is_about' some 'gout') http://www.ebi.ac.uk/efo/EFO_0002101 A172 'A172' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('brain' and ('part_of' some 'Homo sapiens')))) 'A172' SubClassOf 'bearer_of' some 'glioblastoma multiforme' http://www.ebi.ac.uk/efo/EFO_0003433 obsolete_trigeminal placode 'obsolete_trigeminal placode' SubClassOf 'obsolete class' 'obsolete_trigeminal placode' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004764 adipose tissue measurement 'adipose tissue measurement' EquivalentTo 'is_about' some 'adipose tissue' 'adipose tissue measurement' SubClassOf 'is_about' some 'adipose tissue' http://www.ebi.ac.uk/efo/EFO_0002100 A101D 'A101D' SubClassOf 'bearer_of' some 'melanoma' 'A101D' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('zone of skin' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003434 obsolete_pancreas primordium 'obsolete_pancreas primordium' SubClassOf 'obsolete class' 'obsolete_pancreas primordium' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004765 visceral adipose tissue measurement 'visceral adipose tissue measurement' SubClassOf 'is_about' some 'adipose tissue' http://www.ebi.ac.uk/efo/EFO_0002103 A375 'A375' SubClassOf 'bearer_of' some 'melanoma' 'A375' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('zone of skin' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003431 obsolete_presumptive brain 'obsolete_presumptive brain' SubClassOf 'obsolete class' 'obsolete_presumptive brain' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004762 vascular endothelial growth factor measurement 'vascular endothelial growth factor measurement' SubClassOf 'is_about' some 'vascular endothelial growth factor' 'vascular endothelial growth factor measurement' SubClassOf 'is_about' some ('cancer' and ('has_role' some 'biomarker')) http://www.ebi.ac.uk/efo/EFO_0002102 A204 'A204' SubClassOf 'bearer_of' some 'uterine carcinoma' 'A204' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('musculature' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003432 obsolete_presumptive midbrain 'obsolete_presumptive midbrain' SubClassOf 'obsolete class' 'obsolete_presumptive midbrain' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004763 p-tau measurement 'p-tau measurement' SubClassOf 'is_about' some 'Alzheimer's disease' 'p-tau measurement' SubClassOf 'is_about' some 'protein' 'p-tau measurement' SubClassOf 'is_about' some 'central nervous system' http://www.ebi.ac.uk/efo/EFO_0002105 A498 'A498' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('kidney' and ('part_of' some 'Homo sapiens')))) 'A498' SubClassOf 'bearer_of' some 'renal carcinoma' http://www.ebi.ac.uk/efo/EFO_0003437 obsolete_presumptive endoderm 'obsolete_presumptive endoderm' SubClassOf 'obsolete class' 'obsolete_presumptive endoderm' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004768 follicle stimulating hormone measurement 'follicle stimulating hormone measurement' SubClassOf 'is_about' some 'follicle stimulating hormone' 'follicle stimulating hormone measurement' SubClassOf ('is_about' some 'female reproductive system') and ('is_about' some 'ovarian reserve') 'follicle stimulating hormone measurement' SubClassOf 'is_about' some 'hormone' 'follicle stimulating hormone measurement' SubClassOf 'is_about' some 'female reproductive system' http://www.ebi.ac.uk/efo/EFO_0002104 A427 'A427' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) 'A427' SubClassOf 'bearer_of' some 'lung carcinoma' http://www.ebi.ac.uk/efo/EFO_0003438 obsolete_presumptive spinal cord 'obsolete_presumptive spinal cord' SubClassOf 'obsolete class' 'obsolete_presumptive spinal cord' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004769 anti-Mullerian hormone measurement 'anti-Mullerian hormone measurement' SubClassOf 'is_about' some 'hormone' 'anti-Mullerian hormone measurement' SubClassOf 'is_about' some 'protein' 'anti-Mullerian hormone measurement' SubClassOf 'is_about' some 'ovarian reserve' 'anti-Mullerian hormone measurement' SubClassOf 'is_about' some 'female reproductive system' http://www.ebi.ac.uk/efo/EFO_0002107 A7 'A7' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('zone of skin' and ('part_of' some 'Homo sapiens')))) 'A7' SubClassOf 'bearer_of' some 'melanoma' http://www.ebi.ac.uk/efo/EFO_0003435 obsolete_presumptive dorsal mesoderm 'obsolete_presumptive dorsal mesoderm' SubClassOf 'obsolete class' 'obsolete_presumptive dorsal mesoderm' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004766 subcutaneous adipose tissue measurement 'subcutaneous adipose tissue measurement' SubClassOf 'is_about' some 'subcutaneous adipose tissue' http://www.ebi.ac.uk/efo/EFO_0002106 A673 'A673' SubClassOf 'bearer_of' some 'rhabdomyosarcoma' 'A673' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('musculature' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003436 obsolete_presumptive cephalic mesoderm 'obsolete_presumptive cephalic mesoderm' SubClassOf 'obsolete class' 'obsolete_presumptive cephalic mesoderm' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004767 visceral:subcutaneous adipose tissue ratio 'visceral:subcutaneous adipose tissue ratio' SubClassOf 'is_about' some 'adipose tissue' http://www.ebi.ac.uk/efo/EFO_0002109 AGS 'AGS' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('stomach' and ('part_of' some 'organism')))) 'AGS' SubClassOf 'bearer_of' some 'gastric carcinoma' http://www.ebi.ac.uk/efo/EFO_0002108 ACHN 'ACHN' SubClassOf 'bearer_of' some 'renal carcinoma' 'ACHN' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('kidney' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003439 obsolete_presumptive blood 'obsolete_presumptive blood' SubClassOf 'obsolete class' 'obsolete_presumptive blood' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_429 Hypochondroplasia 'Hypochondroplasia' SubClassOf 'Primary bone dysplasia with micromelia' 'Hypochondroplasia' SubClassOf 'FGFR3-related chondrodysplasia' 'Hypochondroplasia' SubClassOf 'Primary bone dysplasia with micromelia' 'Hypochondroplasia' SubClassOf 'osteochondrodysplasia' 'Hypochondroplasia' SubClassOf 'FGFR3-related chondrodysplasia' http://www.orpha.net/ORDO/Orphanet_428 Autosomal dominant hypocalcemia 'Autosomal dominant hypocalcemia' SubClassOf 'Familial isolated hypoparathyroidism' 'Autosomal dominant hypocalcemia' SubClassOf 'calcium metabolic disease' 'Autosomal dominant hypocalcemia' SubClassOf 'realized_in' some ('disease course' and ('has part' some 'calcium ion homeostasis')) 'Autosomal dominant hypocalcemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 'Autosomal dominant hypocalcemia' SubClassOf 'Familial isolated hypoparathyroidism' http://www.orpha.net/ORDO/Orphanet_427 Familial hypoaldosteronism 'Familial hypoaldosteronism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015900 'Familial hypoaldosteronism' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://www.orpha.net/ORDO/Orphanet_448 Hemophilia 'Hemophilia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002242 http://www.ebi.ac.uk/efo/EFO_0004790 CD40 ligand measurement 'CD40 ligand measurement' SubClassOf 'is_about' some 'inflammatory response' http://www.orpha.net/ORDO/Orphanet_447 Paroxysmal nocturnal hemoglobinuria 'Paroxysmal nocturnal hemoglobinuria' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Paroxysmal nocturnal hemoglobinuria' SubClassOf 'acquired metabolic disease' 'Paroxysmal nocturnal hemoglobinuria' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003656 'Paroxysmal nocturnal hemoglobinuria' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004139 'Paroxysmal nocturnal hemoglobinuria' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021141 'Paroxysmal nocturnal hemoglobinuria' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024321 http://www.orpha.net/ORDO/Orphanet_446 Neonatal hemochromatosis 'Neonatal hemochromatosis' SubClassOf 'Disorder of iron metabolism and transport' 'Neonatal hemochromatosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0006507 'Neonatal hemochromatosis' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://www.ebi.ac.uk/efo/EFO_0002130 CESS 'CESS' SubClassOf 'bearer_of' some 'acute myeloid leukemia' 'CESS' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lymphatic part of lymphoid system' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003462 obsolete_presumptive enteric nervous system 'obsolete_presumptive enteric nervous system' SubClassOf 'obsolete class' 'obsolete_presumptive enteric nervous system' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_444 Marie Unna hereditary hypotrichosis 'Marie Unna hereditary hypotrichosis' SubClassOf 'Alopecia' 'Marie Unna hereditary hypotrichosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021034 'Marie Unna hereditary hypotrichosis' SubClassOf 'Alopecia' http://www.ebi.ac.uk/efo/EFO_0003463 obsolete_presumptive forebrain midbrain boundary 'obsolete_presumptive forebrain midbrain boundary' SubClassOf 'obsolete class' 'obsolete_presumptive forebrain midbrain boundary' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002132 CHL1 'CHL1' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('zone of skin' and ('part_of' some 'Homo sapiens')))) 'CHL1' SubClassOf 'bearer_of' some 'melanoma' http://www.ebi.ac.uk/efo/EFO_0003460 obsolete_neurogenic placode 'obsolete_neurogenic placode' SubClassOf 'obsolete class' 'obsolete_neurogenic placode' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004791 tissue plasminogen activator measurement 'tissue plasminogen activator measurement' SubClassOf 'is_about' some 'protein' 'tissue plasminogen activator measurement' SubClassOf 'is_about' some 'myocardial infarction' http://www.orpha.net/ORDO/Orphanet_442 Congenital hypothyroidism 'Congenital hypothyroidism' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021140 'Congenital hypothyroidism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019590 'Congenital hypothyroidism' EquivalentTo 'hypothyroidism' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021140) 'Congenital hypothyroidism' SubClassOf 'hypothyroidism' http://www.ebi.ac.uk/efo/EFO_0002131 CGTHW1 'CGTHW1' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('thyroid gland' and ('part_of' some 'Homo sapiens')))) 'CGTHW1' SubClassOf 'bearer_of' some 'thyroid carcinoma' http://www.ebi.ac.uk/efo/EFO_0003461 obsolete_anterior lateral line placode 'obsolete_anterior lateral line placode' SubClassOf 'obsolete class' 'obsolete_anterior lateral line placode' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004792 plasminogen activator inhibitor 1 measurement 'plasminogen activator inhibitor 1 measurement' SubClassOf 'is_about' some 'protein' http://www.ebi.ac.uk/efo/EFO_0002134 CMLT1 'CMLT1' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lymphatic part of lymphoid system' and ('part_of' some 'Homo sapiens')))) 'CMLT1' SubClassOf 'bearer_of' some 'chronic myelogenous leukemia' http://www.ebi.ac.uk/efo/EFO_0003466 obsolete_presumptive ectoderm 'obsolete_presumptive ectoderm' SubClassOf 'obsolete class' 'obsolete_presumptive ectoderm' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004797 obsolete_Li-Fraumeni syndrome 'obsolete_Li-Fraumeni syndrome' SubClassOf 'obsolete class' 'obsolete_Li-Fraumeni syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002133 CHP212 'CHP212' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('brain' and ('part_of' some 'Homo sapiens')))) 'CHP212' SubClassOf 'bearer_of' some 'neuroblastoma' http://www.ebi.ac.uk/efo/EFO_0003467 obsolete_presumptive mesoderm 'obsolete_presumptive mesoderm' SubClassOf 'obsolete class' 'obsolete_presumptive mesoderm' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004798 copy number variation 'copy number variation' SubClassOf 'is_about' some 'genome' http://www.ebi.ac.uk/efo/EFO_0002136 COLO320DM 'COLO320DM' SubClassOf 'cancer cell line' 'COLO320DM' SubClassOf 'colorectal cancer cell line' 'COLO320DM' SubClassOf 'bearer_of' some 'colorectal adenocarcinoma' 'COLO320DM' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003464 obsolete_anterior pancreatic bud 'obsolete_anterior pancreatic bud' SubClassOf 'obsolete class' 'obsolete_anterior pancreatic bud' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004795 skin sensitivity to sun 'skin sensitivity to sun' SubClassOf 'photosensitivity disease' 'skin sensitivity to sun' SubClassOf 'has_disease_location' some ('zone of skin' or ('part_of' some 'zone of skin')) 'skin sensitivity to sun' SubClassOf 'photosensitivity disease' http://www.ebi.ac.uk/efo/EFO_0002135 COLO201 'COLO201' SubClassOf 'cancer cell line' 'COLO201' SubClassOf 'colorectal cancer cell line' 'COLO201' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('colon' and ('part_of' some 'Homo sapiens')))) 'COLO201' SubClassOf 'bearer_of' some 'colorectal adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0003465 obsolete_posterior pancreatic bud 'obsolete_posterior pancreatic bud' SubClassOf 'obsolete class' 'obsolete_posterior pancreatic bud' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004796 obsolete_freckling 'obsolete_freckling' SubClassOf 'obsolete class' 'obsolete_freckling' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_217330 Hyperuricemia - anemia - renal failure 'Hyperuricemia - anemia - renal failure' SubClassOf 'Genetic renal tubular disease' 'Hyperuricemia - anemia - renal failure' SubClassOf 'Genetic renal tubular disease' 'Hyperuricemia - anemia - renal failure' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019744 'Hyperuricemia - anemia - renal failure' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000608 http://www.ebi.ac.uk/efo/EFO_0002138 COLO668 'COLO668' SubClassOf 'bearer_of' some 'lung carcinoma' 'COLO668' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0002137 COLO320HSR 'COLO320HSR' SubClassOf 'cancer cell line' 'COLO320HSR' SubClassOf 'colorectal cancer cell line' 'COLO320HSR' SubClassOf 'bearer_of' some 'colorectal adenocarcinoma' 'COLO320HSR' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('colon' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003468 obsolete_fin bud 'obsolete_fin bud' SubClassOf 'obsolete class' 'obsolete_fin bud' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004799 cholelithiasis 'cholelithiasis' SubClassOf 'bladder disease' 'cholelithiasis' SubClassOf 'gallbladder disease' 'cholelithiasis' SubClassOf 'bladder disease' 'cholelithiasis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003847 'cholelithiasis' SubClassOf 'has_disease_location' some 'gallbladder' 'cholelithiasis' SubClassOf 'gallbladder disease' http://www.ebi.ac.uk/efo/EFO_0002139 COLO704 'COLO704' SubClassOf 'bearer_of' some 'ovarian carcinoma' 'COLO704' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('female gonad' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003469 obsolete_pelvic fin bud 'obsolete_pelvic fin bud' SubClassOf 'obsolete class' 'obsolete_pelvic fin bud' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_217335 MACS syndrome 'MACS syndrome' SubClassOf 'Cutis laxa' 'MACS syndrome' SubClassOf 'Cutis laxa' http://www.orpha.net/ORDO/Orphanet_457 Harlequin ichthyosis 'Harlequin ichthyosis' SubClassOf 'Autosomal recessive congenital ichthyosis' 'Harlequin ichthyosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0011026 http://www.ebi.ac.uk/efo/EFO_0003451 obsolete_presumptive rhombomere 3 'obsolete_presumptive rhombomere 3' SubClassOf 'obsolete class' 'obsolete_presumptive rhombomere 3' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_455 Superficial epidermolytic ichthyosis 'Superficial epidermolytic ichthyosis' SubClassOf 'Keratinopathic ichthyosis' 'Superficial epidermolytic ichthyosis' SubClassOf 'Exfoliative ichthyosis' 'Superficial epidermolytic ichthyosis' SubClassOf 'Keratinopathic ichthyosis' http://www.ebi.ac.uk/efo/EFO_0003452 obsolete_presumptive rhombomere 8 'obsolete_presumptive rhombomere 8' SubClassOf 'obsolete class' 'obsolete_presumptive rhombomere 8' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004783 TEMPS-A questionnaire 'TEMPS-A questionnaire' SubClassOf 'is_about' some 'mental or behavioural disorder' 'TEMPS-A questionnaire' SubClassOf 'is_about' some 'behavior' http://www.ebi.ac.uk/efo/EFO_0002121 C3A 'C3A' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('liver' and ('part_of' some 'Homo sapiens')))) 'C3A' SubClassOf 'bearer_of' some 'hepatocellular carcinoma' http://www.ebi.ac.uk/efo/EFO_0004780 DSM-IV-based social scale 'DSM-IV-based social scale' SubClassOf 'is_about' some 'behavior' 'DSM-IV-based social scale' SubClassOf 'is_about' some 'mental or behavioural disorder' http://www.ebi.ac.uk/efo/EFO_0002120 C33A 'C33A' SubClassOf 'bearer_of' some 'cervical carcinoma' 'C33A' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('uterine cervix' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003450 obsolete_presumptive rhombomere 4 'obsolete_presumptive rhombomere 4' SubClassOf 'obsolete class' 'obsolete_presumptive rhombomere 4' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004781 DSM-IV-based non-social scale 'DSM-IV-based non-social scale' SubClassOf 'is_about' some 'mental or behavioural disorder' http://www.orpha.net/ORDO/Orphanet_452 X-linked lissencephaly with abnormal genitalia 'X-linked lissencephaly with abnormal genitalia' SubClassOf 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' 'X-linked lissencephaly with abnormal genitalia' SubClassOf 'Syndrome with 46,XY disorder of sex development' 'X-linked lissencephaly with abnormal genitalia' SubClassOf 'ARX-related epileptic encephalopathy' 'X-linked lissencephaly with abnormal genitalia' SubClassOf 'Other syndrome with lissencephaly as a major feature' 'X-linked lissencephaly with abnormal genitalia' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked lissencephaly with abnormal genitalia' SubClassOf 'Syndrome with 46,XY disorder of sex development' 'X-linked lissencephaly with abnormal genitalia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018496 'X-linked lissencephaly with abnormal genitalia' SubClassOf 'Other syndrome with lissencephaly as a major feature' http://www.ebi.ac.uk/efo/EFO_0002123 C4II 'C4II' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('uterine cervix' and ('part_of' some 'Homo sapiens')))) 'C4II' SubClassOf 'bearer_of' some 'cervical carcinoma' http://www.ebi.ac.uk/efo/EFO_0003455 obsolete_epibranchial placode 'obsolete_epibranchial placode' SubClassOf 'obsolete class' 'obsolete_epibranchial placode' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004786 Mini-International Neuropsychiatric Interview 'Mini-International Neuropsychiatric Interview' SubClassOf 'is_about' some 'mental or behavioural disorder' http://www.ebi.ac.uk/efo/EFO_0002122 C4I 'C4I' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('uterine cervix' and ('part_of' some 'Homo sapiens')))) 'C4I' SubClassOf 'bearer_of' some 'cervical carcinoma' http://www.ebi.ac.uk/efo/EFO_0003456 obsolete_vagal placode 1 'obsolete_vagal placode 1' SubClassOf 'obsolete class' 'obsolete_vagal placode 1' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002125 CAL54 'CAL54' SubClassOf 'bearer_of' some 'renal carcinoma' 'CAL54' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('kidney' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003453 obsolete_presumptive hypochord 'obsolete_presumptive hypochord' SubClassOf 'obsolete class' 'obsolete_presumptive hypochord' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002124 CA46 'CA46' SubClassOf 'bearer_of' some 'Burkitts lymphoma' 'CA46' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lymphatic part of lymphoid system' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003454 obsolete_presumptive floor plate 'obsolete_presumptive floor plate' SubClassOf 'obsolete class' 'obsolete_presumptive floor plate' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004785 South Texas Assessment of Neurocognition 'South Texas Assessment of Neurocognition' SubClassOf 'is_about' some 'mental or behavioural disorder' http://www.ebi.ac.uk/efo/EFO_0002127 CCFSTTG1 'CCFSTTG1' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('central nervous system' and ('part_of' some 'Homo sapiens')))) 'CCFSTTG1' SubClassOf 'bearer_of' some 'glioblastoma multiforme' http://www.ebi.ac.uk/efo/EFO_0003459 obsolete_vagal placode 4 'obsolete_vagal placode 4' SubClassOf 'obsolete class' 'obsolete_vagal placode 4' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002126 CAL62 'CAL62' SubClassOf 'bearer_of' some 'thyroid carcinoma' 'CAL62' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('thyroid gland' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/UBERON_2005103 presumptive ventral fin fold 'presumptive ventral fin fold' SubClassOf http://purl.obolibrary.org/obo/UBERON_2005102 http://www.ebi.ac.uk/efo/EFO_0002129 obsolete_CEMC1 'obsolete_CEMC1' SubClassOf 'obsolete class' 'obsolete_CEMC1' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003457 obsolete_vagal placode 2 'obsolete_vagal placode 2' SubClassOf 'obsolete class' 'obsolete_vagal placode 2' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002128 CCRFCEM 'CCRFCEM' SubClassOf 'bearer_of' some 'T-cell acute lymphoblastic leukemia' 'CCRFCEM' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lymphatic part of lymphoid system' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003458 obsolete_vagal placode 3 'obsolete_vagal placode 3' SubClassOf 'obsolete class' 'obsolete_vagal placode 3' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004789 atrial natriuretic factor measurement 'atrial natriuretic factor measurement' SubClassOf 'is_about' some 'cardiovascular system' 'atrial natriuretic factor measurement' SubClassOf 'is_about' some 'heart failure' 'atrial natriuretic factor measurement' SubClassOf 'is_about' some 'hormone' http://purl.obolibrary.org/obo/PO_0001083 inflorescence development stage 'inflorescence development stage' SubClassOf 'plant structure development stage' 'inflorescence development stage' SubClassOf 'plant structure development stage' http://www.orpha.net/ORDO/Orphanet_157215 Hereditary hypophosphatemic rickets with hypercalciuria 'Hereditary hypophosphatemic rickets with hypercalciuria' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000044 http://purl.obolibrary.org/obo/PO_0025034 leaf 'leaf' SubClassOf 'phyllome' 'leaf' SubClassOf 'phyllome' http://purl.obolibrary.org/obo/NCBITaxon_4579 Zea mays subsp. mexicana 'Zea mays subsp. mexicana' SubClassOf 'Zea mays' 'Zea mays subsp. mexicana' SubClassOf 'Zea mays' http://www.ebi.ac.uk/efo/EFO_0003480 obsolete_rhombomere 6 'obsolete_rhombomere 6' SubClassOf 'obsolete class' 'obsolete_rhombomere 6' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_363534 Mitochondrial DNA depletion syndrome, hepatocerebrorenal form 'Mitochondrial DNA depletion syndrome, hepatocerebrorenal form' SubClassOf 'Genetic renal tubular disease' 'Mitochondrial DNA depletion syndrome, hepatocerebrorenal form' SubClassOf 'Neurometabolic disease' 'Mitochondrial DNA depletion syndrome, hepatocerebrorenal form' SubClassOf 'Mitochondrial DNA depletion syndrome, hepatocerebral form' 'Mitochondrial DNA depletion syndrome, hepatocerebrorenal form' SubClassOf 'Genetic renal tubular disease' 'Mitochondrial DNA depletion syndrome, hepatocerebrorenal form' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019744 'Mitochondrial DNA depletion syndrome, hepatocerebrorenal form' SubClassOf 'Neurometabolic disease' 'Mitochondrial DNA depletion syndrome, hepatocerebrorenal form' SubClassOf 'Mitochondrial DNA depletion syndrome, hepatocerebral form' http://www.ebi.ac.uk/efo/EFO_0003481 obsolete_somite 1 'obsolete_somite 1' SubClassOf 'obsolete class' 'obsolete_somite 1' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002150 Caki2 'Caki2' SubClassOf 'bearer_of' some 'renal carcinoma' 'Caki2' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('kidney' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0002152 Calu6 'Calu6' SubClassOf 'bearer_of' some 'carcinoma' 'Calu6' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003484 obsolete_trigeminal neural crest 'obsolete_trigeminal neural crest' SubClassOf 'obsolete class' 'obsolete_trigeminal neural crest' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002151 Calu1 'Calu1' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'Calu1' SubClassOf 'bearer_of' some 'lung carcinoma' http://www.ebi.ac.uk/efo/EFO_0003485 obsolete_trunk mesenchyme 'obsolete_trunk mesenchyme' SubClassOf 'obsolete class' 'obsolete_trunk mesenchyme' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002154 Capan2 'Capan2' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'Capan2' SubClassOf 'bearer_of' some 'pancreatic carcinoma' http://www.ebi.ac.uk/efo/EFO_0003482 obsolete_somite 5 'obsolete_somite 5' SubClassOf 'obsolete class' 'obsolete_somite 5' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002153 Capan1 'Capan1' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'Capan1' SubClassOf 'bearer_of' some 'pancreatic carcinoma' http://www.ebi.ac.uk/efo/EFO_0003483 obsolete_swim bladder 'obsolete_swim bladder' SubClassOf 'obsolete class' 'obsolete_swim bladder' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002156 D283Med 'D283Med' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'D283Med' SubClassOf 'bearer_of' some 'medulloblastoma' http://www.ebi.ac.uk/efo/EFO_0003488 obsolete_apical ectodermal ridge dorsal fin 'obsolete_apical ectodermal ridge dorsal fin' SubClassOf 'obsolete class' 'obsolete_apical ectodermal ridge dorsal fin' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002155 ChaGoK1 'ChaGoK1' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'organism')))) 'ChaGoK1' SubClassOf 'bearer_of' some 'squamous cell carcinoma' http://www.ebi.ac.uk/efo/EFO_0003489 obsolete_blood island 'obsolete_blood island' SubClassOf 'obsolete class' 'obsolete_blood island' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002158 DB 'DB' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'DB' SubClassOf 'bearer_of' some 'lymphoid neoplasm' http://www.ebi.ac.uk/efo/EFO_0003486 obsolete_ventral mesoderm 'obsolete_ventral mesoderm' SubClassOf 'obsolete class' 'obsolete_ventral mesoderm' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002157 D341Med 'D341Med' SubClassOf 'bearer_of' some 'medulloblastoma' 'D341Med' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('brain' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003487 obsolete_apical ectodermal ridge pectoral fin bud 'obsolete_apical ectodermal ridge pectoral fin bud' SubClassOf 'obsolete class' 'obsolete_apical ectodermal ridge pectoral fin bud' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002159 DBTRG05MG 'DBTRG05MG' SubClassOf 'bearer_of' some 'glioblastoma multiforme' 'DBTRG05MG' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/CHEBI_28088 genistein 'genistein' SubClassOf ('has_role' some 'antineoplastic agent') or ('has_role' some 'tyrosine kinase inhibitor') or ('has_role' some 'topoisomerase II inhibitor') http://purl.obolibrary.org/obo/NCBITaxon_4573 Aegilops speltoides 'Aegilops speltoides' SubClassOf 'Viridiplantae' 'Aegilops speltoides' SubClassOf 'Viridiplantae' http://purl.obolibrary.org/obo/CHEBI_5098 flucloxacillin 'flucloxacillin' SubClassOf 'has_role' some 'antibacterial drug' http://www.orpha.net/ORDO/Orphanet_363528 Intellectual disability-strabismus syndrome 'Intellectual disability-strabismus syndrome' SubClassOf 'Syndrome with a symptomatic strabismus' 'Intellectual disability-strabismus syndrome' SubClassOf 'Syndrome with a symptomatic strabismus' 'Intellectual disability-strabismus syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 http://www.ebi.ac.uk/efo/EFO_0003470 obsolete_pancreatic bud 'obsolete_pancreatic bud' SubClassOf 'obsolete class' 'obsolete_pancreatic bud' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002141 CORL105 'CORL105' SubClassOf 'bearer_of' some 'lung carcinoma' 'CORL105' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003473 obsolete_floor plate 'obsolete_floor plate' SubClassOf 'obsolete class' 'obsolete_floor plate' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002140 COLO829 'COLO829' SubClassOf 'derives_from' some ('fibroblast' and ('part_of' some ('zone of skin' and ('part_of' some 'Homo sapiens')))) 'COLO829' SubClassOf 'bearer_of' some 'melanoma' http://www.ebi.ac.uk/efo/EFO_0003474 obsolete_macula utricle 'obsolete_macula utricle' SubClassOf 'obsolete class' 'obsolete_macula utricle' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_363540 Leukoencephalopathy with mild cerebellar ataxia and white matter edema 'Leukoencephalopathy with mild cerebellar ataxia and white matter edema' SubClassOf 'Leukodystrophy' 'Leukoencephalopathy with mild cerebellar ataxia and white matter edema' SubClassOf 'Leukodystrophy' http://www.ebi.ac.uk/efo/EFO_0002143 CORL279 'CORL279' SubClassOf 'bearer_of' some 'lung carcinoma' 'CORL279' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003471 obsolete_presumptive ventral fin fold 'obsolete_presumptive ventral fin fold' SubClassOf 'obsolete class' 'obsolete_presumptive ventral fin fold' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_363543 Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency 'Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency' SubClassOf 'Qualitative or quantitative defects of desmin' 'Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' 'Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency' SubClassOf 'Qualitative or quantitative defects of desmin' 'Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' http://www.ebi.ac.uk/efo/EFO_0002142 CORL23 'CORL23' SubClassOf 'derives_from' some 'lung carcinoma' 'CORL23' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003472 obsolete_caudal artery 'obsolete_caudal artery' SubClassOf 'obsolete class' 'obsolete_caudal artery' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002145 CROAP2 'CROAP2' SubClassOf 'bearer_of' some 'lymphoma' 'CROAP2' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003477 obsolete_median fin fold 'obsolete_median fin fold' SubClassOf 'obsolete class' 'obsolete_median fin fold' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002144 CORL88 'CORL88' SubClassOf 'bearer_of' some 'lung carcinoma' 'CORL88' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003478 obsolete_postoptic commissure 'obsolete_postoptic commissure' SubClassOf 'obsolete class' 'obsolete_postoptic commissure' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002147 CaHPV10 'CaHPV10' SubClassOf 'bearer_of' some 'prostate carcinoma' 'CaHPV10' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003475 obsolete_hypochord 'obsolete_hypochord' SubClassOf 'obsolete class' 'obsolete_hypochord' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002146 CROAP5 'CROAP5' SubClassOf 'bearer_of' some 'lymphoma' 'CROAP5' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003476 obsolete_intermediate cell mass of mesoderm 'obsolete_intermediate cell mass of mesoderm' SubClassOf 'obsolete class' 'obsolete_intermediate cell mass of mesoderm' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002149 Caki1 'Caki1' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'Caki1' SubClassOf 'bearer_of' some 'clear cell renal carcinoma' http://www.orpha.net/ORDO/Orphanet_79408 Severe generalized recessive dystrophic epidermolysis bullosa 'Severe generalized recessive dystrophic epidermolysis bullosa' SubClassOf 'Rare genetic neurological disorder' http://www.ebi.ac.uk/efo/EFO_0002148 CaOv3 'CaOv3' SubClassOf 'bearer_of' some 'ovarian carcinoma' 'CaOv3' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003479 obsolete_pronephric mesoderm 'obsolete_pronephric mesoderm' SubClassOf 'obsolete class' 'obsolete_pronephric mesoderm' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79409 Recessive dystrophic epidermolysis bullosa inversa 'Recessive dystrophic epidermolysis bullosa inversa' SubClassOf 'Dystrophic epidermolysis bullosa' 'Recessive dystrophic epidermolysis bullosa inversa' SubClassOf http://purl.obolibrary.org/obo/MONDO_0009179 http://www.orpha.net/ORDO/Orphanet_79414 Woolly hair nevus 'Woolly hair nevus' SubClassOf 'Isolated hair shaft abnormality' 'Woolly hair nevus' SubClassOf 'Isolated hair shaft abnormality' 'Woolly hair nevus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002297 'Woolly hair nevus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0008093 http://www.orpha.net/ORDO/Orphanet_79411 Transient bullous dermolysis of the newborn 'Transient bullous dermolysis of the newborn' SubClassOf 'Dystrophic epidermolysis bullosa' 'Transient bullous dermolysis of the newborn' SubClassOf 'Dystrophic epidermolysis bullosa' http://www.orpha.net/ORDO/Orphanet_79410 Pretibial dystrophic epidermolysis bullosa 'Pretibial dystrophic epidermolysis bullosa' SubClassOf 'Dystrophic epidermolysis bullosa' 'Pretibial dystrophic epidermolysis bullosa' SubClassOf 'Dystrophic epidermolysis bullosa' 'Pretibial dystrophic epidermolysis bullosa' SubClassOf 'epidermolysis bullosa dystrophica' http://www.ebi.ac.uk/efo/EFO_0002170 Detroit562 'Detroit562' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'Detroit562' SubClassOf 'bearer_of' some 'lymphoma' http://www.ebi.ac.uk/efo/EFO_0002172 EB1 'EB1' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'organism')))) 'EB1' SubClassOf 'bearer_of' some 'Burkitts lymphoma' http://www.ebi.ac.uk/efo/EFO_0002171 DoTc2 'DoTc2' SubClassOf 'bearer_of' some 'cervical carcinoma' 'DoTc2' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0002174 EB3 'EB3' SubClassOf 'bearer_of' some 'Burkitts lymphoma' 'EB3' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_0002173 EB2 'EB2' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'organism')))) 'EB2' SubClassOf 'bearer_of' some 'Burkitts lymphoma' http://www.ebi.ac.uk/efo/EFO_0002176 EM2 'EM2' SubClassOf 'bearer_of' some 'chronic myelogenous leukemia' 'EM2' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0002175 EFM19 'EFM19' SubClassOf 'bearer_of' some 'breast carcinoma' 'EFM19' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0002178 FaDu 'FaDu' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('hypopharynx' and ('part_of' some 'Homo sapiens')))) 'FaDu' SubClassOf 'bearer_of' some 'hypopharyngeal carcinoma' http://www.ebi.ac.uk/efo/EFO_0002177 ES2 'ES2' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'ES2' SubClassOf 'bearer_of' some 'ovarian carcinoma' http://www.ebi.ac.uk/efo/EFO_0002179 G401 'G401' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('kidney' and ('part_of' some 'Homo sapiens')))) http://www.orpha.net/ORDO/Orphanet_79404 Junctional epidermolysis bullosa, Herlitz type 'Junctional epidermolysis bullosa, Herlitz type' SubClassOf 'Junctional epidermolysis bullosa' 'Junctional epidermolysis bullosa, Herlitz type' SubClassOf 'Hereditary epidermolysis bullosa associated with ocular features' 'Junctional epidermolysis bullosa, Herlitz type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Junctional epidermolysis bullosa, Herlitz type' SubClassOf 'Junctional epidermolysis bullosa' 'Junctional epidermolysis bullosa, Herlitz type' DisjointWith 'Junctional epidermolysis bullosa, non-Herlitz type' 'Junctional epidermolysis bullosa, Herlitz type' SubClassOf 'Hereditary epidermolysis bullosa associated with ocular features' 'Junctional epidermolysis bullosa, Herlitz type' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_79403 Junctional epidermolysis bullosa - pyloric atresia 'Junctional epidermolysis bullosa - pyloric atresia' SubClassOf 'Junctional epidermolysis bullosa' 'Junctional epidermolysis bullosa - pyloric atresia' SubClassOf 'Junctional epidermolysis bullosa' http://www.orpha.net/ORDO/Orphanet_79406 Late-onset junctional epidermolysis bullosa 'Late-onset junctional epidermolysis bullosa' SubClassOf 'Junctional epidermolysis bullosa' 'Late-onset junctional epidermolysis bullosa' SubClassOf 'Junctional epidermolysis bullosa' http://www.orpha.net/ORDO/Orphanet_79405 Junctional epidermolysis bullosa inversa 'Junctional epidermolysis bullosa inversa' SubClassOf 'Junctional epidermolysis bullosa' 'Junctional epidermolysis bullosa inversa' SubClassOf 'Junctional epidermolysis bullosa' http://purl.obolibrary.org/obo/UBERON_0009122 adenohypophyseal placode 'adenohypophyseal placode' SubClassOf 'primordium' 'adenohypophyseal placode' SubClassOf http://purl.obolibrary.org/obo/UBERON_0002546 'adenohypophyseal placode' SubClassOf 'develops_from' some 'non-neural ectoderm' 'adenohypophyseal placode' SubClassOf http://purl.obolibrary.org/obo/UBERON_0011814 'adenohypophyseal placode' SubClassOf 'part_of' some 'head' 'adenohypophyseal placode' SubClassOf 'part_of' some 'ectoderm' http://www.orpha.net/ORDO/Orphanet_79400 Localized epidermolysis bullosa simplex 'Localized epidermolysis bullosa simplex' SubClassOf 'Basal epidermolysis bullosa simplex' 'Localized epidermolysis bullosa simplex' SubClassOf 'Basal epidermolysis bullosa simplex' http://purl.obolibrary.org/obo/UBERON_0009120 gill filament 'gill filament' SubClassOf 'part_of' some 'respiratory system' http://www.orpha.net/ORDO/Orphanet_79402 Generalized junctional epidermolysis bullosa, non-Herlitz type 'Generalized junctional epidermolysis bullosa, non-Herlitz type' SubClassOf 'Junctional epidermolysis bullosa, non-Herlitz type' 'Generalized junctional epidermolysis bullosa, non-Herlitz type' SubClassOf 'Junctional epidermolysis bullosa, non-Herlitz type' http://www.orpha.net/ORDO/Orphanet_79401 Epidermolysis bullosa simplex, Ogna type 'Epidermolysis bullosa simplex, Ogna type' SubClassOf 'Basal epidermolysis bullosa simplex' 'Epidermolysis bullosa simplex, Ogna type' SubClassOf 'Basal epidermolysis bullosa simplex' http://www.ebi.ac.uk/efo/EFO_0003491 obsolete_brain vasculature 'obsolete_brain vasculature' SubClassOf 'obsolete class' 'obsolete_brain vasculature' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003492 obsolete_head mesenchyme 'obsolete_head mesenchyme' SubClassOf 'obsolete class' 'obsolete_head mesenchyme' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002161 DKMG 'DKMG' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'DKMG' SubClassOf 'bearer_of' some 'glioblastoma multiforme' http://www.ebi.ac.uk/efo/EFO_0002160 DG75 'DG75' SubClassOf 'bearer_of' some 'Burkitts lymphoma' 'DG75' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_0003490 obsolete_cardinal system 'obsolete_cardinal system' SubClassOf 'obsolete class' 'obsolete_cardinal system' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002163 DMS153 'DMS153' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'DMS153' SubClassOf 'bearer_of' some 'small cell lung carcinoma' http://www.ebi.ac.uk/efo/EFO_0003495 obsolete_mandibular lateral line neuromast 'obsolete_mandibular lateral line neuromast' SubClassOf 'obsolete class' 'obsolete_mandibular lateral line neuromast' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002162 DMS114 'DMS114' SubClassOf 'bearer_of' some 'small cell lung carcinoma' 'DMS114' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003496 obsolete_olfactory pit 'obsolete_olfactory pit' SubClassOf 'obsolete class' 'obsolete_olfactory pit' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/PATO_0000912 increased rate 'increased rate' EquivalentTo 'rate' and (http://purl.obolibrary.org/obo/pato#increased_in_magnitude_relative_to some 'normal') 'increased rate' SubClassOf http://purl.obolibrary.org/obo/pato#increased_in_magnitude_relative_to some 'normal' http://www.ebi.ac.uk/efo/EFO_0002165 DMS53 'DMS53' SubClassOf 'bearer_of' some 'small cell lung carcinoma' 'DMS53' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003493 obsolete_lateral line ganglion 'obsolete_lateral line ganglion' SubClassOf 'obsolete class' 'obsolete_lateral line ganglion' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002164 DMS273 'DMS273' SubClassOf 'bearer_of' some 'small cell lung carcinoma' 'DMS273' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003494 obsolete_lens placode 'obsolete_lens placode' SubClassOf 'obsolete class' 'obsolete_lens placode' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/HANCESTRO_0383 Irish 'Irish' SubClassOf 'isDemonymOf' some 'Republic of Ireland' http://www.ebi.ac.uk/efo/EFO_0002167 DOHH2 'DOHH2' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'DOHH2' SubClassOf 'bearer_of' some 'lymphoma' http://www.ebi.ac.uk/efo/EFO_0003499 obsolete_otic lateral line neuromast 'obsolete_otic lateral line neuromast' SubClassOf 'obsolete class' 'obsolete_otic lateral line neuromast' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002166 DMS79 'DMS79' SubClassOf 'bearer_of' some 'small cell lung carcinoma' 'DMS79' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0002169 Daudi 'Daudi' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'organism')))) 'Daudi' SubClassOf 'bearer_of' some 'Burkitts lymphoma' http://www.ebi.ac.uk/efo/EFO_0003497 obsolete_neural keel 'obsolete_neural keel' SubClassOf 'obsolete class' 'obsolete_neural keel' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002168 DU4475 'DU4475' SubClassOf 'bearer_of' some 'breast carcinoma' 'DU4475' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003498 obsolete_neural rod 'obsolete_neural rod' SubClassOf 'obsolete class' 'obsolete_neural rod' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/CHEBI_28073 chromium 'chromium' SubClassOf 'has_role' some 'micronutrient' http://purl.obolibrary.org/obo/CHEBI_28077 rifampicin 'rifampicin' SubClassOf 'has_role' some 'antimicrobial agent' http://purl.obolibrary.org/obo/NCBITaxon_98039 Schrenkiella parvula 'Schrenkiella parvula' SubClassOf 'Viridiplantae' 'Schrenkiella parvula' SubClassOf 'Viridiplantae' http://www.ebi.ac.uk/efo/EFO_0002192 HEC1B 'HEC1B' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'HEC1B' SubClassOf 'bearer_of' some 'endometrioid carcinoma' http://www.ebi.ac.uk/efo/EFO_0002191 HEC1A 'HEC1A' SubClassOf 'bearer_of' some 'endometrioid carcinoma' 'HEC1A' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/CHEBI_17388 (S)-1-pyrroline-5-carboxylate '(S)-1-pyrroline-5-carboxylate' SubClassOf 'chemical entity' '(S)-1-pyrroline-5-carboxylate' SubClassOf 'chemical entity' http://www.ebi.ac.uk/efo/EFO_0002194 HH 'HH' SubClassOf 'bearer_of' some 'Cutaneous T-cell lymphoma' 'HH' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0002193 HEL9217 'HEL9217' SubClassOf 'bearer_of' some 'leukemia' 'HEL9217' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.orpha.net/ORDO/Orphanet_280586 Chondrodysplasia with joint dislocations, gPAPP type 'Chondrodysplasia with joint dislocations, gPAPP type' SubClassOf 'Primary bone dysplasia with multiple joint dislocations' 'Chondrodysplasia with joint dislocations, gPAPP type' SubClassOf 'Primary bone dysplasia with multiple joint dislocations' http://www.ebi.ac.uk/efo/EFO_0002196 HOS 'HOS' SubClassOf 'bearer_of' some 'osteosarcoma' 'HOS' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0002195 HMCB 'HMCB' SubClassOf 'bearer_of' some 'melanoma' 'HMCB' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('zone of skin' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0002198 HPAFII 'HPAFII' SubClassOf 'bearer_of' some 'pancreatic carcinoma' 'HPAFII' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0002197 HPAC 'HPAC' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'HPAC' SubClassOf 'bearer_of' some 'pancreatic carcinoma' http://www.ebi.ac.uk/efo/EFO_0002199 HSSultan 'HSSultan' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'HSSultan' SubClassOf 'bearer_of' some 'Burkitts lymphoma' http://www.orpha.net/ORDO/Orphanet_293899 Familial isolated arrhythmogenic ventricular dysplasia, biventricular form 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form' SubClassOf 'Familial isolated arrhythmogenic right ventricular dysplasia' 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form' SubClassOf 'Familial isolated arrhythmogenic right ventricular dysplasia' http://purl.obolibrary.org/obo/CHEBI_31697 indolin-2-one 'indolin-2-one' SubClassOf 'chemical entity' 'indolin-2-one' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_53003 naphthalene-1,5-diamine 'naphthalene-1,5-diamine' SubClassOf 'has_role' some 'carcinogen role' http://www.ebi.ac.uk/efo/EFO_0002181 GA10 'GA10' SubClassOf 'bearer_of' some 'Burkitts lymphoma' 'GA10' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'organism')))) http://purl.obolibrary.org/obo/CHEBI_17376 cystine 'cystine' SubClassOf 'amino acid' 'cystine' SubClassOf 'amino acid' http://www.ebi.ac.uk/efo/EFO_0002180 G402 'G402' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('kidney' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0002183 GDM1 'GDM1' SubClassOf 'bearer_of' some 'leukemia' 'GDM1' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.orpha.net/ORDO/Orphanet_280598 Hereditary sensorimotor neuropathy with hyperelastic skin 'Hereditary sensorimotor neuropathy with hyperelastic skin' SubClassOf 'Hereditary motor and sensory neuropathy' 'Hereditary sensorimotor neuropathy with hyperelastic skin' SubClassOf 'Autosomal dominant hereditary demyelinating motor and sensory neuropathy' http://purl.obolibrary.org/obo/CL_0000816 immature B cell 'immature B cell' SubClassOf 'located_in' some 'hematopoietic system' http://www.ebi.ac.uk/efo/EFO_0002182 GCT 'GCT' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0002185 HCC1395 'HCC1395' SubClassOf 'breast cancer cell line' 'HCC1395' SubClassOf 'bearer_of' some 'invasive ductal carcinoma' 'HCC1395' SubClassOf 'breast adenocarcinoma cell line' 'HCC1395' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('mammary gland' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0002184 H4 'H4' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('brain' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0002187 HCC2218 'HCC2218' SubClassOf 'bearer_of' some 'breast carcinoma' 'HCC2218' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('mammary gland' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0002186 HCC1599 'HCC1599' SubClassOf 'breast cancer cell line' 'HCC1599' SubClassOf 'breast adenocarcinoma cell line' 'HCC1599' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('mammary gland' and ('part_of' some 'Homo sapiens')))) 'HCC1599' SubClassOf 'bearer_of' some 'invasive ductal carcinoma' http://www.ebi.ac.uk/efo/EFO_0002189 HCT8 'HCT8' SubClassOf 'cancer cell line' 'HCT8' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'HCT8' SubClassOf 'bearer_of' some 'colorectal adenocarcinoma' 'HCT8' SubClassOf 'colorectal cancer cell line' http://www.ebi.ac.uk/efo/EFO_0002188 HCT15 'HCT15' SubClassOf 'derives_from' some 'colorectal adenocarcinoma' 'HCT15' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/CL_0000813 memory T cell 'memory T cell' SubClassOf 'located_in' some 'hematopoietic system' http://www.orpha.net/ORDO/Orphanet_79459 Follicular atrophoderma-basal cell carcinoma 'Follicular atrophoderma-basal cell carcinoma' SubClassOf 'Bazex-Dupré-Christol syndrome' 'Follicular atrophoderma-basal cell carcinoma' SubClassOf 'Bazex-Dupré-Christol syndrome' http://www.orpha.net/ORDO/Orphanet_79450 obsolete_Non hereditary congenital primary lymphedema 'obsolete_Non hereditary congenital primary lymphedema' SubClassOf 'obsolete class' 'obsolete_Non hereditary congenital primary lymphedema' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79452 Milroy disease 'Milroy disease' SubClassOf 'Conjunctival lymphangiectasia' 'Milroy disease' SubClassOf 'Primary lymphedema' 'Milroy disease' EquivalentTo 'Lymphedema' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) 'Milroy disease' SubClassOf 'Conjunctival lymphangiectasia' 'Milroy disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 'Milroy disease' SubClassOf 'Primary lymphedema' 'Milroy disease' SubClassOf 'Genetic vascular anomaly' http://www.ebi.ac.uk/efo/EFO_0002190 HDMYZ 'HDMYZ' SubClassOf 'bearer_of' some 'Hodgkins lymphoma' 'HDMYZ' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.orpha.net/ORDO/Orphanet_79447 X-linked lethal multiple pterygium syndrome 'X-linked lethal multiple pterygium syndrome' SubClassOf 'Multiple pterygium syndrome' 'X-linked lethal multiple pterygium syndrome' SubClassOf 'Lethal multiple pterygium syndrome' 'X-linked lethal multiple pterygium syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000425 http://www.orpha.net/ORDO/Orphanet_79444 Pseudohypoparathyroidism type 1C 'Pseudohypoparathyroidism type 1C' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018699 'Pseudohypoparathyroidism type 1C' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018379 'Pseudohypoparathyroidism type 1C' SubClassOf 'Avascular necrosis of genetic origin' http://www.orpha.net/ORDO/Orphanet_79445 Pseudopseudohypoparathyroidism 'Pseudopseudohypoparathyroidism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018699 http://purl.obolibrary.org/obo/NCBITaxon_3258 Equisetum arvense 'Equisetum arvense' SubClassOf 'Viridiplantae' 'Equisetum arvense' SubClassOf 'Viridiplantae' http://purl.obolibrary.org/obo/CL_0000839 myeloid lineage restricted progenitor cell 'myeloid lineage restricted progenitor cell' SubClassOf 'located_in' some 'hematopoietic system' http://purl.obolibrary.org/obo/CHEBI_17394 N(5)-ethyl-L-glutamine 'N(5)-ethyl-L-glutamine' SubClassOf 'chemical entity' 'N(5)-ethyl-L-glutamine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CL_0000837 hematopoietic multipotent progenitor cell 'hematopoietic multipotent progenitor cell' SubClassOf 'located_in' some 'hematopoietic system' http://www.orpha.net/ORDO/Orphanet_79433 Oculocutaneous albinism type 3 'Oculocutaneous albinism type 3' SubClassOf 'Oculocutaneous albinism' 'Oculocutaneous albinism type 3' SubClassOf 'Oculocutaneous albinism' http://www.orpha.net/ORDO/Orphanet_79432 Oculocutaneous albinism type 2 'Oculocutaneous albinism type 2' SubClassOf 'Oculocutaneous albinism' 'Oculocutaneous albinism type 2' SubClassOf 'Oculocutaneous albinism' http://www.orpha.net/ORDO/Orphanet_79435 Oculocutaneous albinism type 4 'Oculocutaneous albinism type 4' SubClassOf 'Oculocutaneous albinism' 'Oculocutaneous albinism type 4' SubClassOf 'Oculocutaneous albinism' http://www.orpha.net/ORDO/Orphanet_79434 Oculocutaneous albinism type 1B 'Oculocutaneous albinism type 1B' SubClassOf 'Oculocutaneous albinism type 1' 'Oculocutaneous albinism type 1B' SubClassOf 'Oculocutaneous albinism type 1A' http://www.orpha.net/ORDO/Orphanet_79431 Oculocutaneous albinism type 1A 'Oculocutaneous albinism type 1A' SubClassOf 'Oculocutaneous albinism type 1' 'Oculocutaneous albinism type 1A' SubClassOf http://purl.obolibrary.org/obo/MONDO_0040653 'Oculocutaneous albinism type 1A' SubClassOf 'Oculocutaneous albinism type 1' http://www.orpha.net/ORDO/Orphanet_79430 Hermansky-Pudlak syndrome 'Hermansky-Pudlak syndrome' SubClassOf 'Disorder of lysosomal-related organelles' 'Hermansky-Pudlak syndrome' SubClassOf 'Dense granule disease' 'Hermansky-Pudlak syndrome' SubClassOf 'Syndromic oculocutaneous albinism' 'Hermansky-Pudlak syndrome' SubClassOf 'Disorder of lysosomal-related organelles' 'Hermansky-Pudlak syndrome' SubClassOf 'Dense granule disease' 'Hermansky-Pudlak syndrome' SubClassOf 'Syndromic oculocutaneous albinism' http://purl.obolibrary.org/obo/GO_0012507 ER to Golgi transport vesicle membrane 'ER to Golgi transport vesicle membrane' SubClassOf 'part_of' some 'ER to Golgi transport vesicle' http://purl.obolibrary.org/obo/CL_0000842 mononuclear cell 'mononuclear cell' SubClassOf 'located_in' some 'hematopoietic system' http://www.orpha.net/ORDO/Orphanet_314647 Non-progressive cerebellar ataxia with intellectual disability 'Non-progressive cerebellar ataxia with intellectual disability' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' 'Non-progressive cerebellar ataxia with intellectual disability' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' http://www.orpha.net/ORDO/Orphanet_79269 Sanfilippo syndrome type A 'Sanfilippo syndrome type A' SubClassOf 'Mucopolysaccharidosis type 3' 'Sanfilippo syndrome type A' SubClassOf 'Mucopolysaccharidosis type 3' 'Sanfilippo syndrome type A' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044976 http://www.orpha.net/ORDO/Orphanet_79264 Juvenile neuronal ceroid lipofuscinosis 'Juvenile neuronal ceroid lipofuscinosis' SubClassOf 'Neuronal ceroid lipofuscinosis' 'Juvenile neuronal ceroid lipofuscinosis' SubClassOf 'Progressive myoclonic epilepsy' 'Juvenile neuronal ceroid lipofuscinosis' SubClassOf 'Neuronal ceroid lipofuscinosis' 'Juvenile neuronal ceroid lipofuscinosis' SubClassOf 'Progressive myoclonic epilepsy' 'Juvenile neuronal ceroid lipofuscinosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020143 http://www.orpha.net/ORDO/Orphanet_79263 Infantile neuronal ceroid lipofuscinosis 'Infantile neuronal ceroid lipofuscinosis' SubClassOf 'Progressive myoclonic epilepsy' 'Infantile neuronal ceroid lipofuscinosis' SubClassOf 'Neuronal ceroid lipofuscinosis' 'Infantile neuronal ceroid lipofuscinosis' SubClassOf 'Progressive myoclonic epilepsy' 'Infantile neuronal ceroid lipofuscinosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020143 'Infantile neuronal ceroid lipofuscinosis' SubClassOf 'Neuronal ceroid lipofuscinosis' http://purl.obolibrary.org/obo/CHEBI_7676 O-butanoylcarnitine 'O-butanoylcarnitine' SubClassOf 'lipid' 'O-butanoylcarnitine' SubClassOf 'lipid' http://www.orpha.net/ORDO/Orphanet_93571 Dense deposit disease 'Dense deposit disease' SubClassOf 'Non-immunoglobulin-mediated membranoproliferative glomerulonephritis' 'Dense deposit disease' SubClassOf 'Non-immunoglobulin-mediated membranoproliferative glomerulonephritis' http://www.orpha.net/ORDO/Orphanet_79262 Adult neuronal ceroid lipofuscinosis 'Adult neuronal ceroid lipofuscinosis' SubClassOf 'Progressive myoclonic epilepsy' 'Adult neuronal ceroid lipofuscinosis' SubClassOf 'Neuronal ceroid lipofuscinosis' 'Adult neuronal ceroid lipofuscinosis' SubClassOf 'Progressive myoclonic epilepsy' 'Adult neuronal ceroid lipofuscinosis' SubClassOf 'Neuronal ceroid lipofuscinosis' 'Adult neuronal ceroid lipofuscinosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020143 http://purl.obolibrary.org/obo/CHEBI_7671 O-acetylhomoserine 'O-acetylhomoserine' SubClassOf 'amino acid' 'O-acetylhomoserine' SubClassOf 'amino acid' http://www.orpha.net/ORDO/Orphanet_280553 Fatal infantile hypertonic myofibrillar myopathy 'Fatal infantile hypertonic myofibrillar myopathy' SubClassOf 'Alpha-crystallinopathy' 'Fatal infantile hypertonic myofibrillar myopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018779 http://www.orpha.net/ORDO/Orphanet_314652 Autosomal dominant beta2-microglobulinic amyloidosis 'Autosomal dominant beta2-microglobulinic amyloidosis' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'Autosomal dominant beta2-microglobulinic amyloidosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018590 'Autosomal dominant beta2-microglobulinic amyloidosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018634 http://www.orpha.net/ORDO/Orphanet_93579 Atypical hemolytic-uremic syndrome with H factor anomaly 'Atypical hemolytic-uremic syndrome with H factor anomaly' SubClassOf 'Atypical hemolytic-uremic syndrome' 'Atypical hemolytic-uremic syndrome with H factor anomaly' SubClassOf 'Inborn errors of metabolism' 'Atypical hemolytic-uremic syndrome with H factor anomaly' SubClassOf 'Rare genetic coagulation disorder' 'Atypical hemolytic-uremic syndrome with H factor anomaly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0009335 'Atypical hemolytic-uremic syndrome with H factor anomaly' SubClassOf 'Atypical hemolytic-uremic syndrome' 'Atypical hemolytic-uremic syndrome with H factor anomaly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003689 http://www.orpha.net/ORDO/Orphanet_93578 Atypical hemolytic-uremic syndrome with B factor anomaly 'Atypical hemolytic-uremic syndrome with B factor anomaly' SubClassOf 'Atypical hemolytic-uremic syndrome' 'Atypical hemolytic-uremic syndrome with B factor anomaly' SubClassOf 'Atypical hemolytic-uremic syndrome' http://www.orpha.net/ORDO/Orphanet_280558 Warsaw breakage syndrome 'Warsaw breakage syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Warsaw breakage syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Warsaw breakage syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Warsaw breakage syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' http://www.orpha.net/ORDO/Orphanet_93576 Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly 'Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly' SubClassOf 'Atypical hemolytic-uremic syndrome' 'Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly' SubClassOf 'Atypical hemolytic-uremic syndrome' http://www.orpha.net/ORDO/Orphanet_93575 Atypical hemolytic-uremic syndrome with C3 anomaly 'Atypical hemolytic-uremic syndrome with C3 anomaly' SubClassOf 'Atypical hemolytic-uremic syndrome' 'Atypical hemolytic-uremic syndrome with C3 anomaly' SubClassOf 'Atypical hemolytic-uremic syndrome' http://purl.obolibrary.org/obo/CL_1000497 kidney cell 'kidney cell' SubClassOf 'located_in' some 'kidney' http://purl.obolibrary.org/obo/CL_1000488 cholangiocyte 'cholangiocyte' SubClassOf 'part_of' some 'bile duct' http://www.orpha.net/ORDO/Orphanet_293864 Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome 'Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome' SubClassOf 'Syndromic visceral malformation' 'Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome' SubClassOf 'Syndromic intestinal malformation' 'Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome' SubClassOf 'Syndromic visceral malformation' 'Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome' SubClassOf 'Syndromic intestinal malformation' http://www.orpha.net/ORDO/Orphanet_79257 GM1 gangliosidosis type 3 'GM1 gangliosidosis type 3' SubClassOf 'GM1 gangliosidosis' 'GM1 gangliosidosis type 3' SubClassOf 'GM1 gangliosidosis' http://www.orpha.net/ORDO/Orphanet_79256 GM1 gangliosidosis type 2 'GM1 gangliosidosis type 2' SubClassOf 'GM1 gangliosidosis' 'GM1 gangliosidosis type 2' SubClassOf 'GM1 gangliosidosis' http://www.orpha.net/ORDO/Orphanet_79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type b 'Glycogen storage disease due to glucose-6-phosphatase deficiency type b' SubClassOf 'Constitutional neutropenia with extra-haematopoietic manifestations' 'Glycogen storage disease due to glucose-6-phosphatase deficiency type b' SubClassOf 'Glycogen storage disease due to glucose-6-phosphatase deficiency' 'Glycogen storage disease due to glucose-6-phosphatase deficiency type b' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023258 'Glycogen storage disease due to glucose-6-phosphatase deficiency type b' SubClassOf 'Constitutional neutropenia with extra-haematopoietic manifestations' 'Glycogen storage disease due to glucose-6-phosphatase deficiency type b' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044975 http://www.orpha.net/ORDO/Orphanet_79258 Glycogen storage disease due to glucose-6-phosphatase deficiency type a 'Glycogen storage disease due to glucose-6-phosphatase deficiency type a' SubClassOf 'Glycogen storage disease due to glucose-6-phosphatase deficiency' 'Glycogen storage disease due to glucose-6-phosphatase deficiency type a' SubClassOf 'Glycogen storage disease due to glucose-6-phosphatase deficiency' http://www.orpha.net/ORDO/Orphanet_79253 Mild phenylketonuria 'Mild phenylketonuria' SubClassOf 'Phenylketonuria' 'Mild phenylketonuria' SubClassOf 'Phenylketonuria' http://www.orpha.net/ORDO/Orphanet_79255 GM1 gangliosidosis type 1 'GM1 gangliosidosis type 1' SubClassOf 'GM1 gangliosidosis' 'GM1 gangliosidosis type 1' SubClassOf 'GM1 gangliosidosis' 'GM1 gangliosidosis type 1' SubClassOf 'Rare syndromic dyslipidemia' http://www.orpha.net/ORDO/Orphanet_79254 Classical phenylketonuria 'Classical phenylketonuria' SubClassOf 'Phenylketonuria' 'Classical phenylketonuria' SubClassOf 'Phenylketonuria' http://www.orpha.net/ORDO/Orphanet_93581 Atypical hemolytic-uremic syndrome with anti-factor H antibodies 'Atypical hemolytic-uremic syndrome with anti-factor H antibodies' SubClassOf 'Atypical hemolytic-uremic syndrome' 'Atypical hemolytic-uremic syndrome with anti-factor H antibodies' SubClassOf 'Inborn errors of metabolism' 'Atypical hemolytic-uremic syndrome with anti-factor H antibodies' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003689 'Atypical hemolytic-uremic syndrome with anti-factor H antibodies' SubClassOf 'Atypical hemolytic-uremic syndrome' 'Atypical hemolytic-uremic syndrome with anti-factor H antibodies' SubClassOf 'Rare genetic coagulation disorder' 'Atypical hemolytic-uremic syndrome with anti-factor H antibodies' SubClassOf http://purl.obolibrary.org/obo/MONDO_0009335 http://www.orpha.net/ORDO/Orphanet_93580 Atypical hemolytic-uremic syndrome with I factor anomaly 'Atypical hemolytic-uremic syndrome with I factor anomaly' SubClassOf 'Atypical hemolytic-uremic syndrome' 'Atypical hemolytic-uremic syndrome with I factor anomaly' SubClassOf 'Atypical hemolytic-uremic syndrome' http://www.orpha.net/ORDO/Orphanet_314621 Duplication of the pituitary gland 'Duplication of the pituitary gland' SubClassOf 'Midline cerebral malformation' 'Duplication of the pituitary gland' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015889 'Duplication of the pituitary gland' SubClassOf 'Midline cerebral malformation' http://purl.obolibrary.org/obo/CHEBI_17245 carbon monoxide 'carbon monoxide' SubClassOf 'has_role' some 'mitochondrial respiratory-chain inhibitor' http://www.orpha.net/ORDO/Orphanet_93589 Late-onset nephronophthisis 'Late-onset nephronophthisis' SubClassOf 'Nephronophthisis' 'Late-onset nephronophthisis' SubClassOf 'Nephronophthisis' http://www.orpha.net/ORDO/Orphanet_93587 Familial cystic renal disease 'Familial cystic renal disease' SubClassOf 'kidney disease' 'Familial cystic renal disease' SubClassOf 'Cystic Kidney Disease' 'Familial cystic renal disease' EquivalentTo 'Cystic Kidney Disease' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) 'Familial cystic renal disease' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Familial cystic renal disease' SubClassOf 'has_disease_location' some 'kidney' 'Familial cystic renal disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003847 http://www.orpha.net/ORDO/Orphanet_280569 Rapidly progressive glomerulonephritis 'Rapidly progressive glomerulonephritis' SubClassOf 'Primary glomerular disease' 'Rapidly progressive glomerulonephritis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002462 'Rapidly progressive glomerulonephritis' SubClassOf 'Primary glomerular disease' http://www.orpha.net/ORDO/Orphanet_314629 CLN11 disease 'CLN11 disease' SubClassOf 'Adult neuronal ceroid lipofuscinosis' 'CLN11 disease' SubClassOf 'Adult neuronal ceroid lipofuscinosis' http://purl.obolibrary.org/obo/HP_0002515 Waddling gait 'Waddling gait' SubClassOf 'behavioral abnormality' 'Waddling gait' SubClassOf 'behavioral abnormality' http://www.orpha.net/ORDO/Orphanet_79246 Pyruvate dehydrogenase phosphatase deficiency 'Pyruvate dehydrogenase phosphatase deficiency' SubClassOf 'Pyruvate dehydrogenase deficiency' 'Pyruvate dehydrogenase phosphatase deficiency' SubClassOf 'Pyruvate dehydrogenase deficiency' http://www.orpha.net/ORDO/Orphanet_79242 Holocarboxylase synthetase deficiency 'Holocarboxylase synthetase deficiency' SubClassOf 'Multiple carboxylase deficiency' 'Holocarboxylase synthetase deficiency' SubClassOf 'Multiple carboxylase deficiency' 'Holocarboxylase synthetase deficiency' SubClassOf 'Disorder of branched-chain amino acid metabolism' 'Holocarboxylase synthetase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100033 'Holocarboxylase synthetase deficiency' SubClassOf 'Cerebral organic aciduria' 'Holocarboxylase synthetase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044976 http://www.orpha.net/ORDO/Orphanet_79241 Biotinidase deficiency 'Biotinidase deficiency' SubClassOf 'vitamin metabolic disorder' 'Biotinidase deficiency' SubClassOf 'Disorder of other vitamins and cofactors metabolism and transport' 'Biotinidase deficiency' SubClassOf 'Rare hereditary metabolic disease with peripheral neuropathy' 'Biotinidase deficiency' SubClassOf 'Multiple carboxylase deficiency' 'Biotinidase deficiency' SubClassOf 'participates_in' some ('biotin metabolic process' and ('has component' some 'abnormal')) 'Biotinidase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100033 'Biotinidase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044976 'Biotinidase deficiency' SubClassOf 'Rare hereditary metabolic disease with peripheral neuropathy' 'Biotinidase deficiency' SubClassOf 'Cerebral organic aciduria' 'Biotinidase deficiency' SubClassOf 'Disorder of other vitamins and cofactors metabolism and transport' 'Biotinidase deficiency' SubClassOf 'Multiple carboxylase deficiency' http://www.orpha.net/ORDO/Orphanet_79244 Pyruvate dehydrogenase E2 deficiency 'Pyruvate dehydrogenase E2 deficiency' SubClassOf 'Pyruvate dehydrogenase deficiency' 'Pyruvate dehydrogenase E2 deficiency' SubClassOf 'Pyruvate dehydrogenase deficiency' http://www.orpha.net/ORDO/Orphanet_93593 Nephropathy secondary to a storage or other metabolic disease 'Nephropathy secondary to a storage or other metabolic disease' SubClassOf 'kidney disease' 'Nephropathy secondary to a storage or other metabolic disease' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://www.orpha.net/ORDO/Orphanet_79243 Pyruvate dehydrogenase E1-alpha deficiency 'Pyruvate dehydrogenase E1-alpha deficiency' SubClassOf 'Pyruvate dehydrogenase deficiency' 'Pyruvate dehydrogenase E1-alpha deficiency' SubClassOf 'Pyruvate dehydrogenase deficiency' http://www.orpha.net/ORDO/Orphanet_93592 Juvenile nephronophthisis 'Juvenile nephronophthisis' SubClassOf 'Nephronophthisis' 'Juvenile nephronophthisis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Juvenile nephronophthisis' SubClassOf 'Nephronophthisis' 'Juvenile nephronophthisis' SubClassOf 'ciliopathy' http://www.orpha.net/ORDO/Orphanet_93591 Infantile nephronophthisis 'Infantile nephronophthisis' SubClassOf 'Nephronophthisis' 'Infantile nephronophthisis' SubClassOf 'Nephronophthisis' http://www.orpha.net/ORDO/Orphanet_268882 Arnold-Chiari malformation type I 'Arnold-Chiari malformation type I' SubClassOf 'Malformation of the neurenteric canal, spinal cord and column' 'Arnold-Chiari malformation type I' SubClassOf 'Malformation of the neurenteric canal, spinal cord and column' 'Arnold-Chiari malformation type I' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000115 http://www.orpha.net/ORDO/Orphanet_314632 Parkinsonism due to ATP13A2 deficiency 'Parkinsonism due to ATP13A2 deficiency' SubClassOf 'Neuronal ceroid lipofuscinosis' 'Parkinsonism due to ATP13A2 deficiency' SubClassOf 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' 'Parkinsonism due to ATP13A2 deficiency' SubClassOf 'Kufor-Rakeb syndrome' 'Parkinsonism due to ATP13A2 deficiency' SubClassOf 'Neuronal ceroid lipofuscinosis' http://purl.obolibrary.org/obo/BTO_0005339 Ma-Mel-11 cell 'Ma-Mel-11 cell' SubClassOf 'cultured cell' and ('bearer_of' some 'melanoma') http://www.orpha.net/ORDO/Orphanet_280576 Nestor-Guillermo progeria syndrome 'Nestor-Guillermo progeria syndrome' SubClassOf 'Premature aging' 'Nestor-Guillermo progeria syndrome' SubClassOf 'Genetic progeroid syndrome' 'Nestor-Guillermo progeria syndrome' SubClassOf 'Primary osteolysis' 'Nestor-Guillermo progeria syndrome' SubClassOf 'Hutchinson-Gilford progeria syndrome' http://www.orpha.net/ORDO/Orphanet_93599 Primary hyperoxaluria type 2 'Primary hyperoxaluria type 2' SubClassOf 'Primary hyperoxaluria' 'Primary hyperoxaluria type 2' SubClassOf 'Primary hyperoxaluria' http://www.orpha.net/ORDO/Orphanet_93598 Primary hyperoxaluria type 1 'Primary hyperoxaluria type 1' SubClassOf 'Primary hyperoxaluria' 'Primary hyperoxaluria type 1' SubClassOf 'Disorder of peroxisomal alpha-, beta- and omega-oxidation' 'Primary hyperoxaluria type 1' SubClassOf 'Primary hyperoxaluria' 'Primary hyperoxaluria type 1' SubClassOf 'Disorder of peroxisomal alpha-, beta- and omega-oxidation' http://purl.obolibrary.org/obo/DOID_13406 pulmonary sarcoidosis 'pulmonary sarcoidosis' SubClassOf 'Sarcoidosis' 'pulmonary sarcoidosis' SubClassOf 'Sarcoidosis' 'pulmonary sarcoidosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017028 'pulmonary sarcoidosis' SubClassOf 'has_disease_location' some 'respiratory system' http://www.orpha.net/ORDO/Orphanet_314637 Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency 'Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency' SubClassOf 'Mitochondrial disease with hypertrophic cardiomyopathy' 'Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency' SubClassOf 'Mitochondrial disease with hypertrophic cardiomyopathy' 'Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000732 http://www.orpha.net/ORDO/Orphanet_293888 Familial isolated arrhythmogenic ventricular dysplasia, left dominant form 'Familial isolated arrhythmogenic ventricular dysplasia, left dominant form' SubClassOf 'Familial isolated arrhythmogenic right ventricular dysplasia' 'Familial isolated arrhythmogenic ventricular dysplasia, left dominant form' SubClassOf 'Familial isolated arrhythmogenic right ventricular dysplasia' http://www.orpha.net/ORDO/Orphanet_79239 Classic galactosemia 'Classic galactosemia' SubClassOf 'Rare female infertility due to an anomaly of ovarian function of genetic origin' 'Classic galactosemia' SubClassOf 'Non-acquired premature ovarian failure' 'Classic galactosemia' SubClassOf 'Galactosemia' 'Classic galactosemia' SubClassOf 'Rare female infertility due to an anomaly of ovarian function of genetic origin' 'Classic galactosemia' SubClassOf 'Non-acquired premature ovarian failure' 'Classic galactosemia' SubClassOf 'Galactosemia' http://www.orpha.net/ORDO/Orphanet_79238 Galactose epimerase deficiency 'Galactose epimerase deficiency' SubClassOf 'Galactosemia' 'Galactose epimerase deficiency' SubClassOf 'Galactosemia' http://www.orpha.net/ORDO/Orphanet_79235 Crigler-Najjar syndrome type 2 'Crigler-Najjar syndrome type 2' SubClassOf 'Crigler-Najjar syndrome' 'Crigler-Najjar syndrome type 2' SubClassOf 'Crigler-Najjar syndrome' http://www.orpha.net/ORDO/Orphanet_79234 Crigler-Najjar syndrome type 1 'Crigler-Najjar syndrome type 1' SubClassOf 'Crigler-Najjar syndrome' 'Crigler-Najjar syndrome type 1' SubClassOf 'Crigler-Najjar syndrome' http://www.orpha.net/ORDO/Orphanet_79237 Galactokinase deficiency 'Galactokinase deficiency' SubClassOf 'Galactosemia' 'Galactokinase deficiency' SubClassOf 'Galactosemia' http://www.orpha.net/ORDO/Orphanet_79230 Hemochromatosis type 2 'Hemochromatosis type 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0006507 'Hemochromatosis type 2' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://www.orpha.net/ORDO/Orphanet_79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency 'Hypoxanthine guanine phosphoribosyltransferase partial deficiency' SubClassOf 'Hypoxanthine-guanine phosphoribosyltransferase deficiency' 'Hypoxanthine guanine phosphoribosyltransferase partial deficiency' SubClassOf 'Hypoxanthine-guanine phosphoribosyltransferase deficiency' http://www.orpha.net/ORDO/Orphanet_363611 Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome 'Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 http://purl.obolibrary.org/obo/NCBITaxon_4537 Oryza punctata 'Oryza punctata' SubClassOf 'Viridiplantae' 'Oryza punctata' SubClassOf 'Viridiplantae' http://www.orpha.net/ORDO/Orphanet_314603 Autosomal recessive spastic ataxia with leukoencephalopathy 'Autosomal recessive spastic ataxia with leukoencephalopathy' SubClassOf 'Autosomal recessive spastic ataxia' 'Autosomal recessive spastic ataxia with leukoencephalopathy' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Autosomal recessive spastic ataxia with leukoencephalopathy' SubClassOf 'Autosomal recessive spastic ataxia' 'Autosomal recessive spastic ataxia with leukoencephalopathy' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Autosomal recessive spastic ataxia with leukoencephalopathy' SubClassOf 'Metabolic disease with dementia' http://purl.obolibrary.org/obo/CHEBI_153671 endothelin-1 'endothelin-1' SubClassOf 'has_role' some 'vasodilator agent' http://www.orpha.net/ORDO/Orphanet_182083 Channelopathy with epilepsy 'Channelopathy with epilepsy' SubClassOf 'Monogenic disease with epilepsy' 'Channelopathy with epilepsy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021016 'Channelopathy with epilepsy' SubClassOf 'Monogenic disease with epilepsy' http://www.orpha.net/ORDO/Orphanet_363623 Autosomal recessive limb-girdle muscular dystrophy type 2T 'Autosomal recessive limb-girdle muscular dystrophy type 2T' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'Autosomal recessive limb-girdle muscular dystrophy type 2T' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' 'Autosomal recessive limb-girdle muscular dystrophy type 2T' SubClassOf 'Disorder of O-mannosylglycan synthesis' 'Autosomal recessive limb-girdle muscular dystrophy type 2T' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'Autosomal recessive limb-girdle muscular dystrophy type 2T' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' 'Autosomal recessive limb-girdle muscular dystrophy type 2T' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000173 'Autosomal recessive limb-girdle muscular dystrophy type 2T' SubClassOf 'Disorder of O-mannosylglycan synthesis' http://www.orpha.net/ORDO/Orphanet_293822 MITF-related melanoma and renal cell carcinoma predisposition syndrome 'MITF-related melanoma and renal cell carcinoma predisposition syndrome' SubClassOf 'Inherited cancer-predisposing syndrome' 'MITF-related melanoma and renal cell carcinoma predisposition syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020573 'MITF-related melanoma and renal cell carcinoma predisposition syndrome' SubClassOf 'Inherited cancer-predisposing syndrome' 'MITF-related melanoma and renal cell carcinoma predisposition syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'cutaneous melanoma' 'MITF-related melanoma and renal cell carcinoma predisposition syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024462 http://www.orpha.net/ORDO/Orphanet_182098 pneumoconiosis 'pneumoconiosis' SubClassOf 'lung disease' 'pneumoconiosis' SubClassOf 'has_disease_location' some 'lung' 'pneumoconiosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017027 http://www.orpha.net/ORDO/Orphanet_293825 Congenital dyserythropoietic anemia type IV 'Congenital dyserythropoietic anemia type IV' SubClassOf 'Congenital dyserythropoietic anemia' 'Congenital dyserythropoietic anemia type IV' SubClassOf 'Congenital dyserythropoietic anemia' http://www.orpha.net/ORDO/Orphanet_169095 Alymphoid cystic thymic dysgenesis 'Alymphoid cystic thymic dysgenesis' SubClassOf 'Combined T and B cell immunodeficiency' 'Alymphoid cystic thymic dysgenesis' SubClassOf 'Severe combined immunodeficiency' 'Alymphoid cystic thymic dysgenesis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018035 http://www.orpha.net/ORDO/Orphanet_363618 LMNA-related cardiocutaneous progeria syndrome 'LMNA-related cardiocutaneous progeria syndrome' SubClassOf 'Premature aging' 'LMNA-related cardiocutaneous progeria syndrome' SubClassOf 'heart disease' 'LMNA-related cardiocutaneous progeria syndrome' SubClassOf 'Premature aging' http://www.orpha.net/ORDO/Orphanet_79299 Hyperinsulinism due to glucokinase deficiency 'Hyperinsulinism due to glucokinase deficiency' SubClassOf 'Diazoxide-sensitive diffuse hyperinsulinism' 'Hyperinsulinism due to glucokinase deficiency' SubClassOf 'Disorder of glycolysis' 'Hyperinsulinism due to glucokinase deficiency' SubClassOf 'Diazoxide-sensitive diffuse hyperinsulinism' 'Hyperinsulinism due to glucokinase deficiency' SubClassOf 'Disorder of glycolysis' 'Hyperinsulinism due to glucokinase deficiency' SubClassOf 'hyperinsulinemic hypoglycemia' http://www.orpha.net/ORDO/Orphanet_79298 Diazoxide-resistant focal hyperinsulinism 'Diazoxide-resistant focal hyperinsulinism' SubClassOf 'Diazoxide-resistant hyperinsulinism' 'Diazoxide-resistant focal hyperinsulinism' SubClassOf 'Diazoxide-resistant hyperinsulinism' http://www.orpha.net/ORDO/Orphanet_169090 Combined immunodeficiency due to CRAC channel dysfunction 'Combined immunodeficiency due to CRAC channel dysfunction' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018035 'Combined immunodeficiency due to CRAC channel dysfunction' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021016 http://www.orpha.net/ORDO/Orphanet_79293 Familial LCAT deficiency 'Familial LCAT deficiency' SubClassOf 'LCAT deficiency' 'Familial LCAT deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003689 'Familial LCAT deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001822 'Familial LCAT deficiency' SubClassOf 'LCAT deficiency' http://www.orpha.net/ORDO/Orphanet_79292 Fish-eye disease 'Fish-eye disease' SubClassOf 'LCAT deficiency' 'Fish-eye disease' SubClassOf 'LCAT deficiency' http://www.orpha.net/ORDO/Orphanet_93547 Syndromic renal or urinary tract malformation 'Syndromic renal or urinary tract malformation' SubClassOf 'Genetic renal or urinary tract malformation' 'Syndromic renal or urinary tract malformation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Syndromic renal or urinary tract malformation' SubClassOf 'Genetic renal or urinary tract malformation' 'Syndromic renal or urinary tract malformation' EquivalentTo 'Genetic renal or urinary tract malformation' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021127) http://www.orpha.net/ORDO/Orphanet_79280 Alpha-N-acetylgalactosaminidase deficiency type 2 'Alpha-N-acetylgalactosaminidase deficiency type 2' SubClassOf 'Alpha-N-acetylgalactosaminidase deficiency' 'Alpha-N-acetylgalactosaminidase deficiency type 2' SubClassOf 'Alpha-N-acetylgalactosaminidase deficiency' http://purl.obolibrary.org/obo/CHEBI_17202 IMP 'IMP' SubClassOf 'chemical entity' 'IMP' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/HP_0003811 Neonatal death 'Neonatal death' SubClassOf 'mortality' 'Neonatal death' SubClassOf 'mortality' http://www.orpha.net/ORDO/Orphanet_293830 Constitutional dyserythropoietic anemia 'Constitutional dyserythropoietic anemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002280 'Constitutional dyserythropoietic anemia' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://www.orpha.net/ORDO/Orphanet_93550 Basement membrane disease 'Basement membrane disease' SubClassOf 'glomerular disease' http://www.orpha.net/ORDO/Orphanet_79282 Methylmalonic acidemia with homocystinuria, type cblC 'Methylmalonic acidemia with homocystinuria, type cblC' SubClassOf 'Methylmalonic acidemia with homocystinuria' 'Methylmalonic acidemia with homocystinuria, type cblC' SubClassOf 'Rare hereditary metabolic disease with peripheral neuropathy' 'Methylmalonic acidemia with homocystinuria, type cblC' SubClassOf 'Metabolic disease with pigmentary retinitis' 'Methylmalonic acidemia with homocystinuria, type cblC' SubClassOf 'Methylmalonic acidemia with homocystinuria' 'Methylmalonic acidemia with homocystinuria, type cblC' SubClassOf 'Rare hereditary metabolic disease with peripheral neuropathy' 'Methylmalonic acidemia with homocystinuria, type cblC' SubClassOf 'Metabolic disease with pigmentary retinitis' http://www.orpha.net/ORDO/Orphanet_79281 Alpha-N-acetylgalactosaminidase deficiency type 3 'Alpha-N-acetylgalactosaminidase deficiency type 3' SubClassOf 'Alpha-N-acetylgalactosaminidase deficiency' 'Alpha-N-acetylgalactosaminidase deficiency type 3' SubClassOf 'Alpha-N-acetylgalactosaminidase deficiency' http://www.orpha.net/ORDO/Orphanet_79284 Methylmalonic acidemia with homocystinuria type cblF 'Methylmalonic acidemia with homocystinuria type cblF' SubClassOf 'Methylmalonic acidemia with homocystinuria' 'Methylmalonic acidemia with homocystinuria type cblF' SubClassOf 'Methylmalonic acidemia with homocystinuria' http://www.orpha.net/ORDO/Orphanet_79283 Methylmalonic acidemia with homocystinuria, type cblD 'Methylmalonic acidemia with homocystinuria, type cblD' SubClassOf 'Methylmalonic acidemia with homocystinuria' 'Methylmalonic acidemia with homocystinuria, type cblD' SubClassOf 'Methylmalonic acidemia with homocystinuria' http://purl.obolibrary.org/obo/GO_0048513 organ development 'organ development' SubClassOf 'part_of' some 'system development' http://purl.obolibrary.org/obo/UBERON_0011242 ethmoid cartilage 'ethmoid cartilage' SubClassOf 'cartilage element of chondrocranium' 'ethmoid cartilage' SubClassOf 'part_of' some 'olfactory region' 'ethmoid cartilage' SubClassOf 'cartilage element of chondrocranium' 'ethmoid cartilage' SubClassOf 'develops_from' some 'neurocranial trabecula' http://purl.obolibrary.org/obo/CHEBI_78208 azelaate(2-) 'azelaate(2-)' SubClassOf 'chemical entity' 'azelaate(2-)' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_182079 ARX-related epileptic encephalopathy 'ARX-related epileptic encephalopathy' SubClassOf 'Monogenic disease with epilepsy' 'ARX-related epileptic encephalopathy' SubClassOf 'Monogenic disease with epilepsy' http://purl.obolibrary.org/obo/UBERON_6001060 embryonic brain 'embryonic brain' SubClassOf 'brain' http://www.orpha.net/ORDO/Orphanet_182076 Syndromic neurometabolic disease with X-linked intellectual disability 'Syndromic neurometabolic disease with X-linked intellectual disability' SubClassOf 'X-linked syndromic intellectual disability' 'Syndromic neurometabolic disease with X-linked intellectual disability' SubClassOf 'Neurometabolic disease' 'Syndromic neurometabolic disease with X-linked intellectual disability' SubClassOf 'X-linked syndromic intellectual disability' 'Syndromic neurometabolic disease with X-linked intellectual disability' EquivalentTo 'Neurometabolic disease' and 'X-linked syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_293848 Right temporal lobar atrophy 'Right temporal lobar atrophy' SubClassOf 'Frontotemporal dementia' 'Right temporal lobar atrophy' SubClassOf 'Semantic dementia' http://www.orpha.net/ORDO/Orphanet_79279 Alpha-N-acetylgalactosaminidase deficiency type 1 'Alpha-N-acetylgalactosaminidase deficiency type 1' SubClassOf 'Alpha-N-acetylgalactosaminidase deficiency' 'Alpha-N-acetylgalactosaminidase deficiency type 1' SubClassOf 'Alpha-N-acetylgalactosaminidase deficiency' http://www.orpha.net/ORDO/Orphanet_79278 Erythropoietic protoporphyria 'Erythropoietic protoporphyria' SubClassOf 'Porphyria' 'Erythropoietic protoporphyria' SubClassOf 'Acute hepatic porphyria' http://www.orpha.net/ORDO/Orphanet_182073 Syndromic neurometabolic disease with non-X-linked intellectual disability 'Syndromic neurometabolic disease with non-X-linked intellectual disability' SubClassOf 'Neurometabolic disease' 'Syndromic neurometabolic disease with non-X-linked intellectual disability' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Syndromic neurometabolic disease with non-X-linked intellectual disability' DisjointWith 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/CHEBI_5001 fenofibrate 'fenofibrate' SubClassOf 'has_role' some 'drug role' http://www.orpha.net/ORDO/Orphanet_93562 Familial renal amyloidosis due to fibrinogen A alpha-chain variant 'Familial renal amyloidosis due to fibrinogen A alpha-chain variant' SubClassOf 'Familial renal amyloidosis' 'Familial renal amyloidosis due to fibrinogen A alpha-chain variant' SubClassOf 'Familial renal amyloidosis' http://purl.obolibrary.org/obo/CHEBI_5002 fenoldopam 'fenoldopam' SubClassOf 'has_role' some 'alpha-adrenergic agonist' 'fenoldopam' SubClassOf 'has_role' some 'vasodilator agent' 'fenoldopam' SubClassOf 'has_role' some 'dopaminergic antagonist' 'fenoldopam' SubClassOf 'has_role' some 'drug role' http://www.orpha.net/ORDO/Orphanet_79277 Congenital erythropoietic porphyria 'Congenital erythropoietic porphyria' SubClassOf 'Rare constitutional hemolytic anemia due to an enzyme disorder' 'Congenital erythropoietic porphyria' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019142 'Congenital erythropoietic porphyria' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003689 'Congenital erythropoietic porphyria' SubClassOf 'Rare constitutional hemolytic anemia due to an enzyme disorder' http://www.orpha.net/ORDO/Orphanet_93561 Familial renal amyloidosis due to lysozyme variant 'Familial renal amyloidosis due to lysozyme variant' SubClassOf 'Familial renal amyloidosis' 'Familial renal amyloidosis due to lysozyme variant' SubClassOf 'Familial renal amyloidosis' http://www.orpha.net/ORDO/Orphanet_79276 Acute intermittent porphyria 'Acute intermittent porphyria' SubClassOf 'Acute hepatic porphyria' 'Acute intermittent porphyria' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019142 'Acute intermittent porphyria' SubClassOf 'Acute hepatic porphyria' http://www.orpha.net/ORDO/Orphanet_93560 Familial renal amyloidosis due to Apolipoprotein AI variant 'Familial renal amyloidosis due to Apolipoprotein AI variant' SubClassOf 'Familial renal amyloidosis' 'Familial renal amyloidosis due to Apolipoprotein AI variant' SubClassOf 'Familial renal amyloidosis' http://www.orpha.net/ORDO/Orphanet_79271 Sanfilippo syndrome type C 'Sanfilippo syndrome type C' SubClassOf 'Mucopolysaccharidosis type 3' 'Sanfilippo syndrome type C' SubClassOf 'Mucopolysaccharidosis type 3' http://www.orpha.net/ORDO/Orphanet_79270 Sanfilippo syndrome type B 'Sanfilippo syndrome type B' SubClassOf 'Mucopolysaccharidosis type 3' 'Sanfilippo syndrome type B' SubClassOf 'Mucopolysaccharidosis type 3' http://www.orpha.net/ORDO/Orphanet_79273 Hereditary coproporphyria 'Hereditary coproporphyria' SubClassOf 'Acute hepatic porphyria' 'Hereditary coproporphyria' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019142 'Hereditary coproporphyria' SubClassOf 'Acute hepatic porphyria' http://www.orpha.net/ORDO/Orphanet_79272 Sanfilippo syndrome type D 'Sanfilippo syndrome type D' SubClassOf 'Mucopolysaccharidosis type 3' 'Sanfilippo syndrome type D' SubClassOf 'Mucopolysaccharidosis type 3' http://www.orpha.net/ORDO/Orphanet_226 Dihydropteridine reductase deficiency 'Dihydropteridine reductase deficiency' SubClassOf 'Hyperphenylalaninemia' 'Dihydropteridine reductase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044976 'Dihydropteridine reductase deficiency' SubClassOf 'Hyperphenylalaninemia' 'Dihydropteridine reductase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0045014 http://www.orpha.net/ORDO/Orphanet_225 Maternally-inherited diabetes and deafness 'Maternally-inherited diabetes and deafness' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' 'Maternally-inherited diabetes and deafness' SubClassOf 'Syndromic genetic deafness' 'Maternally-inherited diabetes and deafness' SubClassOf 'Mitochondrial disease with eye involvement' 'Maternally-inherited diabetes and deafness' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' 'Maternally-inherited diabetes and deafness' SubClassOf 'Syndromic genetic deafness' 'Maternally-inherited diabetes and deafness' SubClassOf 'Mitochondrial disease with eye involvement' 'Maternally-inherited diabetes and deafness' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015888 http://www.orpha.net/ORDO/Orphanet_224 Neonatal diabetes mellitus 'Neonatal diabetes mellitus' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Neonatal diabetes mellitus' SubClassOf 'diabetes mellitus' http://www.orpha.net/ORDO/Orphanet_223 Nephrogenic diabetes insipidus 'Nephrogenic diabetes insipidus' SubClassOf 'Genetic renal tubular disease' 'Nephrogenic diabetes insipidus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004782 'Nephrogenic diabetes insipidus' SubClassOf 'Genetic renal tubular disease' 'Nephrogenic diabetes insipidus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001343 'Nephrogenic diabetes insipidus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019744 http://www.orpha.net/ORDO/Orphanet_231531 Hermansky-Pudlak syndrome type 7 'Hermansky-Pudlak syndrome type 7' SubClassOf 'Hermansky-Pudlak syndrome' 'Hermansky-Pudlak syndrome type 7' SubClassOf 'Hermansky-Pudlak syndrome' http://www.orpha.net/ORDO/Orphanet_220 Denys-Drash syndrome 'Denys-Drash syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Denys-Drash syndrome' SubClassOf 'Syndrome with disorder of sex development of gynecological interest' 'Denys-Drash syndrome' SubClassOf 'Syndrome with 46,XY disorder of sex development' 'Denys-Drash syndrome' SubClassOf 'Primary glomerular disease' 'Denys-Drash syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Denys-Drash syndrome' SubClassOf 'Syndrome with disorder of sex development of gynecological interest' 'Denys-Drash syndrome' SubClassOf 'Syndrome with 46,XY disorder of sex development' 'Denys-Drash syndrome' SubClassOf 'Primary glomerular disease' 'Denys-Drash syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 http://www.orpha.net/ORDO/Orphanet_268817 Cephalocele 'Cephalocele' SubClassOf 'Neural tube closure defect' 'Cephalocele' SubClassOf 'Neural tube closure defect' http://purl.obolibrary.org/obo/HP_0001249 Intellectual disability 'Intellectual disability' SubClassOf 'cognitive impairment' 'Intellectual disability' SubClassOf 'cognitive impairment' http://purl.obolibrary.org/obo/UBERON_6001059 visual primordium 'visual primordium' SubClassOf 'embryonic structure' 'visual primordium' SubClassOf 'primordium' http://purl.obolibrary.org/obo/HP_0001256 Intellectual disability, mild 'Intellectual disability, mild' SubClassOf 'Intellectual disability' 'Intellectual disability, mild' SubClassOf 'Intellectual disability' http://www.orpha.net/ORDO/Orphanet_268820 Cranial meningocele 'Cranial meningocele' SubClassOf 'Cephalocele' 'Cranial meningocele' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001147 'Cranial meningocele' SubClassOf 'brain disease' 'Cranial meningocele' SubClassOf 'Cephalocele' http://purl.obolibrary.org/obo/HP_0001252 muscular hypotonia 'muscular hypotonia' SubClassOf 'Abnormality of muscle physiology' 'muscular hypotonia' SubClassOf 'Abnormality of muscle physiology' http://www.orpha.net/ORDO/Orphanet_268826 Parietal encephalocele 'Parietal encephalocele' SubClassOf 'Isolated encephalocele' 'Parietal encephalocele' SubClassOf 'Isolated encephalocele' http://www.orpha.net/ORDO/Orphanet_268823 Occipital encephalocele 'Occipital encephalocele' SubClassOf 'Isolated encephalocele' 'Occipital encephalocele' SubClassOf 'Isolated encephalocele' http://www.orpha.net/ORDO/Orphanet_219 Autosomal recessive limb-girdle muscular dystrophy type 2F 'Autosomal recessive limb-girdle muscular dystrophy type 2F' SubClassOf 'Qualitative or quantitative defects of delta-sarcoglycan' 'Autosomal recessive limb-girdle muscular dystrophy type 2F' SubClassOf 'Neuromuscular disease with dilated cardiomyopathy' 'Autosomal recessive limb-girdle muscular dystrophy type 2F' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' 'Autosomal recessive limb-girdle muscular dystrophy type 2F' SubClassOf 'Qualitative or quantitative defects of delta-sarcoglycan' 'Autosomal recessive limb-girdle muscular dystrophy type 2F' SubClassOf 'Neuromuscular disease with dilated cardiomyopathy' 'Autosomal recessive limb-girdle muscular dystrophy type 2F' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' http://www.orpha.net/ORDO/Orphanet_218 Darier disease 'Darier disease' SubClassOf 'Other genetic epidermal disease' 'Darier disease' SubClassOf 'acrokeratosis verruciformis' 'Darier disease' SubClassOf 'has_disease_location' some 'zone of skin' 'Darier disease' SubClassOf 'Other genetic epidermal disease' 'Darier disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019274 http://www.orpha.net/ORDO/Orphanet_239 Dyggve-Melchior-Clausen disease 'Dyggve-Melchior-Clausen disease' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Dyggve-Melchior-Clausen disease' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Dyggve-Melchior-Clausen disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000844 'Dyggve-Melchior-Clausen disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 http://www.orpha.net/ORDO/Orphanet_238 Digestive duplication 'Digestive duplication' SubClassOf 'Non-syndromic intestinal malformation' 'Digestive duplication' SubClassOf 'Non-syndromic intestinal malformation' http://www.orpha.net/ORDO/Orphanet_237 Duplication of urethra 'Duplication of urethra' SubClassOf 'Genetic non-syndromic renal or urinary tract malformation' 'Duplication of urethra' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015934 'Duplication of urethra' SubClassOf 'Genetic non-syndromic renal or urinary tract malformation' http://www.orpha.net/ORDO/Orphanet_236 Trisomy 9p 'Trisomy 9p' SubClassOf 'Partial trisomy of the short arm of chromosome 9' 'Trisomy 9p' SubClassOf 'Partial trisomy of the short arm of chromosome 9' 'Trisomy 9p' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020226 http://www.orpha.net/ORDO/Orphanet_235 Dubowitz syndrome 'Dubowitz syndrome' SubClassOf 'Genetic malformation syndrome with short stature' 'Dubowitz syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Dubowitz syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Dubowitz syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Dubowitz syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Dubowitz syndrome' SubClassOf 'Genetic malformation syndrome with short stature' 'Dubowitz syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020169 'Dubowitz syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Dubowitz syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_234 Dubin-Johnson syndrome 'Dubin-Johnson syndrome' SubClassOf 'Disorder of bilirubin metabolism and excretion' 'Dubin-Johnson syndrome' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Dubin-Johnson syndrome' SubClassOf 'metabolic disease' 'Dubin-Johnson syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002408 'Dubin-Johnson syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 http://www.orpha.net/ORDO/Orphanet_233 Duane retraction syndrome 'Duane retraction syndrome' SubClassOf 'Syndrome with a symptomatic strabismus' 'Duane retraction syndrome' SubClassOf 'Cranial nerve and nuclear aplasia' 'Duane retraction syndrome' SubClassOf 'Syndrome with a symptomatic strabismus' 'Duane retraction syndrome' SubClassOf 'Nuclear oculomotor paralysis' 'Duane retraction syndrome' SubClassOf 'Cranial nerve and nuclear aplasia' 'Duane retraction syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 http://www.orpha.net/ORDO/Orphanet_232 Sickle cell anemia 'Sickle cell anemia' SubClassOf 'Sickle cell disease and related diseases' 'Sickle cell anemia' SubClassOf 'Hematological disorder with renal involvement' 'Sickle cell anemia' SubClassOf 'Rare hereditary disease with avascular necrosis' 'Sickle cell anemia' SubClassOf 'Rare disorder with hypogonadotropic hypogonadism' 'Sickle cell anemia' SubClassOf 'Sickle cell disease and related diseases' 'Sickle cell anemia' SubClassOf 'autosomal recessive disease' 'Sickle cell anemia' SubClassOf 'Hematological disorder with renal involvement' 'Sickle cell anemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018792 'Sickle cell anemia' SubClassOf 'Rare hereditary disease with avascular necrosis' 'Sickle cell anemia' SubClassOf 'Rare disorder with hypogonadotropic hypogonadism' http://www.orpha.net/ORDO/Orphanet_230 Dopamine beta-hydroxylase deficiency 'Dopamine beta-hydroxylase deficiency' SubClassOf 'Neurometabolic disease' 'Dopamine beta-hydroxylase deficiency' SubClassOf 'Disorder of catecholamine synthesis' 'Dopamine beta-hydroxylase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015914 'Dopamine beta-hydroxylase deficiency' SubClassOf 'Neurometabolic disease' 'Dopamine beta-hydroxylase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020169 'Dopamine beta-hydroxylase deficiency' SubClassOf 'Disorder of catecholamine synthesis' http://www.orpha.net/ORDO/Orphanet_268810 Posterior meningocele 'Posterior meningocele' SubClassOf 'Spina bifida cystica' 'Posterior meningocele' SubClassOf 'Spina bifida cystica' http://purl.obolibrary.org/obo/HP_0001269 Hemiparesis 'Hemiparesis' SubClassOf 'abnormality of brain morphology' 'Hemiparesis' SubClassOf 'abnormality of brain morphology' http://purl.obolibrary.org/obo/HP_0001263 global developmental delay 'global developmental delay' SubClassOf 'abnormality of the nervous system' 'global developmental delay' SubClassOf 'abnormality of the nervous system' http://purl.obolibrary.org/obo/HP_0002597 Abnormality of the vasculature 'Abnormality of the vasculature' EquivalentTo 'has part' some ('quality' and ('has component' some 'abnormal') and ('inheres in part of' some 'vasculature')) http://www.orpha.net/ORDO/Orphanet_268813 Myelocystocele 'Myelocystocele' SubClassOf 'Spina bifida cystica' 'Myelocystocele' SubClassOf 'Spina bifida cystica' http://www.orpha.net/ORDO/Orphanet_182050 MYH9-related disease 'MYH9-related disease' SubClassOf 'Primary glomerular disease' 'MYH9-related disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018795 'MYH9-related disease' SubClassOf 'Primary glomerular disease' http://purl.obolibrary.org/obo/HP_0001260 Dysarthria 'Dysarthria' SubClassOf 'abnormality of the nervous system' 'Dysarthria' SubClassOf 'abnormality of the nervous system' http://www.orpha.net/ORDO/Orphanet_206580 Autosomal recessive lower motor neuron disease with childhood onset 'Autosomal recessive lower motor neuron disease with childhood onset' SubClassOf 'Generalized bulbospinal muscular atrophy' 'Autosomal recessive lower motor neuron disease with childhood onset' SubClassOf 'Generalized bulbospinal muscular atrophy' http://www.orpha.net/ORDO/Orphanet_206583 Adult polyglucosan body disease 'Adult polyglucosan body disease' SubClassOf 'Rare hereditary metabolic disease with peripheral neuropathy' 'Adult polyglucosan body disease' SubClassOf 'Glycogen storage disease due to glycogen branching enzyme deficiency' 'Adult polyglucosan body disease' SubClassOf 'Rare hereditary metabolic disease with peripheral neuropathy' 'Adult polyglucosan body disease' SubClassOf 'Glycogen storage disease due to glycogen branching enzyme deficiency' http://www.orpha.net/ORDO/Orphanet_229 Familial aortic dissection 'Familial aortic dissection' SubClassOf 'Rare disease with thoracic aortic aneurysm and aortic dissection' 'Familial aortic dissection' SubClassOf 'Rare disease with thoracic aortic aneurysm and aortic dissection' 'Familial aortic dissection' SubClassOf 'has_disease_location' some 'aorta' http://www.orpha.net/ORDO/Orphanet_231556 Late-onset localized junctional epidermolysis bullosa - intellectual disability 'Late-onset localized junctional epidermolysis bullosa - intellectual disability' SubClassOf 'Junctional epidermolysis bullosa' 'Late-onset localized junctional epidermolysis bullosa - intellectual disability' SubClassOf 'Junctional epidermolysis bullosa' http://www.orpha.net/ORDO/Orphanet_206599 Isolated asymptomatic elevation of creatine phosphokinase 'Isolated asymptomatic elevation of creatine phosphokinase' SubClassOf 'Qualitative or quantitative defects of dystrophin' 'Isolated asymptomatic elevation of creatine phosphokinase' SubClassOf 'Qualitative or quantitative defects of caveolin-3' 'Isolated asymptomatic elevation of creatine phosphokinase' SubClassOf 'Qualitative or quantitative defects of dystrophin' 'Isolated asymptomatic elevation of creatine phosphokinase' SubClassOf 'Qualitative or quantitative defects of caveolin-3' http://www.orpha.net/ORDO/Orphanet_249 Fibrous dysplasia of bone 'Fibrous dysplasia of bone' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'Fibrous dysplasia of bone' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'Fibrous dysplasia of bone' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021141 http://www.orpha.net/ORDO/Orphanet_248 Autosomal recessive hypohidrotic ectodermal dysplasia 'Autosomal recessive hypohidrotic ectodermal dysplasia' SubClassOf 'Hypohidrotic ectodermal dysplasia' 'Autosomal recessive hypohidrotic ectodermal dysplasia' SubClassOf 'autosomal recessive disease' 'Autosomal recessive hypohidrotic ectodermal dysplasia' SubClassOf 'Hypohidrotic ectodermal dysplasia' http://www.orpha.net/ORDO/Orphanet_247 Arrhythmogenic right ventricular dysplasia 'Arrhythmogenic right ventricular dysplasia' SubClassOf 'has_disease_location' some 'heart right ventricle' http://www.orpha.net/ORDO/Orphanet_246 Postaxial acrofacial dysostosis 'Postaxial acrofacial dysostosis' SubClassOf 'Syndromic developmental defect of the eye' 'Postaxial acrofacial dysostosis' SubClassOf 'Acrofacial dysostosis' 'Postaxial acrofacial dysostosis' SubClassOf 'Secondary ectropion' 'Postaxial acrofacial dysostosis' SubClassOf 'Syndromic palpebral coloboma' 'Postaxial acrofacial dysostosis' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Postaxial acrofacial dysostosis' SubClassOf 'Syndrome or malformation associated with head and neck malformations' 'Postaxial acrofacial dysostosis' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Postaxial acrofacial dysostosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 'Postaxial acrofacial dysostosis' SubClassOf 'Syndromic developmental defect of the eye' 'Postaxial acrofacial dysostosis' SubClassOf 'Acrofacial dysostosis' 'Postaxial acrofacial dysostosis' SubClassOf 'Secondary ectropion' 'Postaxial acrofacial dysostosis' SubClassOf 'Syndromic palpebral coloboma' 'Postaxial acrofacial dysostosis' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Postaxial acrofacial dysostosis' SubClassOf 'Syndrome or malformation associated with head and neck malformations' 'Postaxial acrofacial dysostosis' SubClassOf 'Genetic branchial arch or oral-acral syndrome' http://www.orpha.net/ORDO/Orphanet_245 Nager syndrome 'Nager syndrome' SubClassOf 'Acrofacial dysostosis' 'Nager syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Nager syndrome' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Nager syndrome' SubClassOf 'Syndromic palpebral coloboma' 'Nager syndrome' SubClassOf 'Pierre Robin syndrome associated with branchial archs anomalies' 'Nager syndrome' SubClassOf 'Malposition of external canthus' 'Nager syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Nager syndrome' SubClassOf 'Acrofacial dysostosis' 'Nager syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 'Nager syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Nager syndrome' SubClassOf 'Syndromic palpebral coloboma' 'Nager syndrome' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Nager syndrome' SubClassOf 'Pierre Robin syndrome associated with branchial archs anomalies' 'Nager syndrome' SubClassOf 'Malposition of external canthus' 'Nager syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_244 Primary ciliary dyskinesia 'Primary ciliary dyskinesia' SubClassOf 'ciliopathy' 'Primary ciliary dyskinesia' SubClassOf 'Male infertility due to sperm motility disorder' 'Primary ciliary dyskinesia' SubClassOf 'has_disease_location' some 'cilium' 'Primary ciliary dyskinesia' SubClassOf 'ciliopathy' 'Primary ciliary dyskinesia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015118 'Primary ciliary dyskinesia' SubClassOf 'Male infertility due to sperm motility disorder' 'Primary ciliary dyskinesia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 http://www.orpha.net/ORDO/Orphanet_169085 Susceptibility to respiratory infections associated with CD8alpha chain mutation 'Susceptibility to respiratory infections associated with CD8alpha chain mutation' SubClassOf 'Combined T and B cell immunodeficiency' 'Susceptibility to respiratory infections associated with CD8alpha chain mutation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018814 http://www.orpha.net/ORDO/Orphanet_243 46,XX gonadal dysgenesis '46,XX gonadal dysgenesis' SubClassOf '46,XX disorder of gonadal development' '46,XX gonadal dysgenesis' SubClassOf 'Female infertility due to gonadal dysgenesis' '46,XX gonadal dysgenesis' SubClassOf 'Non-acquired premature ovarian failure' '46,XX gonadal dysgenesis' SubClassOf 'Gonadal dysgenesis of gynecological interest' '46,XX gonadal dysgenesis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001967 '46,XX gonadal dysgenesis' SubClassOf 'Female infertility due to gonadal dysgenesis' '46,XX gonadal dysgenesis' SubClassOf '46,XX disorder of gonadal development' '46,XX gonadal dysgenesis' SubClassOf 'Non-acquired premature ovarian failure' '46,XX gonadal dysgenesis' SubClassOf 'Gonadal dysgenesis of gynecological interest' http://www.orpha.net/ORDO/Orphanet_242 46,XY complete gonadal dysgenesis '46,XY complete gonadal dysgenesis' SubClassOf '46,XY disorder of gonadal development' '46,XY complete gonadal dysgenesis' SubClassOf 'Gonadal dysgenesis of gynecological interest' '46,XY complete gonadal dysgenesis' SubClassOf 'Syndrome associated with hypertrophic cardiomyopathy' '46,XY complete gonadal dysgenesis' SubClassOf 'Milroy disease' '46,XY complete gonadal dysgenesis' SubClassOf 'Gonadal dysgenesis of gynecological interest' '46,XY complete gonadal dysgenesis' SubClassOf '46,XY disorder of gonadal development' '46,XY complete gonadal dysgenesis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001967 '46,XY complete gonadal dysgenesis' SubClassOf 'Syndrome associated with hypertrophic cardiomyopathy' '46,XY complete gonadal dysgenesis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0009332 http://www.orpha.net/ORDO/Orphanet_241 Dyschromatosis universalis 'Dyschromatosis universalis' SubClassOf 'Genetic hyperpigmentation of the skin' 'Dyschromatosis universalis' SubClassOf 'Genetic hyperpigmentation of the skin' http://www.orpha.net/ORDO/Orphanet_240 Léri-Weill dyschondrosteosis 'Léri-Weill dyschondrosteosis' SubClassOf 'Mesomelic and rhizo-mesomelic dysplasia' 'Léri-Weill dyschondrosteosis' SubClassOf 'Mesomelic and rhizo-mesomelic dysplasia' 'Léri-Weill dyschondrosteosis' SubClassOf 'osteochondrodysplasia' http://purl.obolibrary.org/obo/HP_0001274 Agenesis of corpus callosum 'Agenesis of corpus callosum' SubClassOf 'abnormality of brain morphology' 'Agenesis of corpus callosum' SubClassOf 'abnormality of brain morphology' http://purl.obolibrary.org/obo/HP_0001276 Hypertonia 'Hypertonia' SubClassOf 'Abnormality of muscle physiology' 'Hypertonia' SubClassOf 'Abnormality of muscle physiology' http://purl.obolibrary.org/obo/HP_0001270 Motor delay 'Motor delay' SubClassOf 'abnormality of the nervous system' 'Motor delay' SubClassOf 'abnormality of the nervous system' http://purl.obolibrary.org/obo/HP_0001272 Cerebellar atrophy 'Cerebellar atrophy' SubClassOf 'abnormality of brain morphology' 'Cerebellar atrophy' SubClassOf 'abnormality of brain morphology' http://purl.obolibrary.org/obo/HP_0001273 Abnormality of the corpus callosum 'Abnormality of the corpus callosum' SubClassOf 'abnormality of brain morphology' 'Abnormality of the corpus callosum' SubClassOf 'abnormality of brain morphology' http://www.orpha.net/ORDO/Orphanet_169082 Combined immunodeficiency due to CD3gamma deficiency 'Combined immunodeficiency due to CD3gamma deficiency' SubClassOf 'Combined T and B cell immunodeficiency' 'Combined immunodeficiency due to CD3gamma deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018814 http://www.orpha.net/ORDO/Orphanet_169079 Cernunnos-XLF deficiency 'Cernunnos-XLF deficiency' SubClassOf 'Combined T and B cell immunodeficiency' 'Cernunnos-XLF deficiency' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Cernunnos-XLF deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018814 'Cernunnos-XLF deficiency' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' http://www.orpha.net/ORDO/Orphanet_258 Congenital muscular dystrophy type 1A 'Congenital muscular dystrophy type 1A' SubClassOf 'Congenital muscular dystrophy' 'Congenital muscular dystrophy type 1A' SubClassOf 'Qualitative or quantitative defects of merosin' 'Congenital muscular dystrophy type 1A' SubClassOf 'Congenital muscular dystrophy' 'Congenital muscular dystrophy type 1A' SubClassOf 'Qualitative or quantitative defects of merosin' http://www.orpha.net/ORDO/Orphanet_257 Epidermolysis bullosa simplex with muscular dystrophy 'Epidermolysis bullosa simplex with muscular dystrophy' SubClassOf 'Qualitative or quantitative defects of plectin' 'Epidermolysis bullosa simplex with muscular dystrophy' SubClassOf 'Hereditary epidermolysis bullosa associated with ocular features' 'Epidermolysis bullosa simplex with muscular dystrophy' SubClassOf 'Basal epidermolysis bullosa simplex' 'Epidermolysis bullosa simplex with muscular dystrophy' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' 'Epidermolysis bullosa simplex with muscular dystrophy' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Epidermolysis bullosa simplex with muscular dystrophy' SubClassOf 'Qualitative or quantitative defects of plectin' 'Epidermolysis bullosa simplex with muscular dystrophy' SubClassOf 'Hereditary epidermolysis bullosa associated with ocular features' 'Epidermolysis bullosa simplex with muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Epidermolysis bullosa simplex with muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Epidermolysis bullosa simplex with muscular dystrophy' SubClassOf 'Basal epidermolysis bullosa simplex' 'Epidermolysis bullosa simplex with muscular dystrophy' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' 'Epidermolysis bullosa simplex with muscular dystrophy' SubClassOf 'Malformation syndrome with skin/mucosae involvement' http://www.orpha.net/ORDO/Orphanet_256 Early-onset generalized limb-onset dystonia 'Early-onset generalized limb-onset dystonia' SubClassOf 'Generalized isolated dystonia' 'Early-onset generalized limb-onset dystonia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100016 http://www.orpha.net/ORDO/Orphanet_255 Dopa-responsive dystonia 'Dopa-responsive dystonia' SubClassOf 'Persistent combined dystonia' 'Dopa-responsive dystonia' SubClassOf 'Neurometabolic disease' 'Dopa-responsive dystonia' SubClassOf 'Persistent combined dystonia' 'Dopa-responsive dystonia' SubClassOf 'Neurometabolic disease' http://www.orpha.net/ORDO/Orphanet_254 Spondylometaphyseal dysplasia 'Spondylometaphyseal dysplasia' SubClassOf 'Primary bone dysplasia' 'Spondylometaphyseal dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000841 'Spondylometaphyseal dysplasia' SubClassOf 'Primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_253 Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' SubClassOf 'Primary bone dysplasia' 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' SubClassOf 'Primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_251 Multiple epiphyseal dysplasia 'Multiple epiphyseal dysplasia' SubClassOf 'Multiple epiphyseal dysplasia and pseudoachondroplasia' 'Multiple epiphyseal dysplasia' SubClassOf 'Multiple epiphyseal dysplasia and pseudoachondroplasia' 'Multiple epiphyseal dysplasia' SubClassOf 'osteochondrodysplasia' http://www.orpha.net/ORDO/Orphanet_250 Frontonasal dysplasia 'Frontonasal dysplasia' SubClassOf 'Dysostosis with predominant craniofacial involvement' 'Frontonasal dysplasia' SubClassOf 'Dysostosis with predominant craniofacial involvement' http://purl.obolibrary.org/obo/NCBITaxon_49225 Triticum dicoccon 'Triticum dicoccon' SubClassOf 'Viridiplantae' 'Triticum dicoccon' SubClassOf 'Viridiplantae' http://www.orpha.net/ORDO/Orphanet_325357 46,XY disorder of sex development due to impaired androgen production '46,XY disorder of sex development due to impaired androgen production' SubClassOf 'Genetic 46,XY disorder of sex development of endocrine origin' '46,XY disorder of sex development due to impaired androgen production' SubClassOf 'Genetic 46,XY disorder of sex development of endocrine origin' http://www.orpha.net/ORDO/Orphanet_231537 Hermansky-Pudlak syndrome type 8 'Hermansky-Pudlak syndrome type 8' SubClassOf 'Hermansky-Pudlak syndrome' 'Hermansky-Pudlak syndrome type 8' SubClassOf 'Hermansky-Pudlak syndrome' http://www.orpha.net/ORDO/Orphanet_269 Facioscapulohumeral dystrophy 'Facioscapulohumeral dystrophy' SubClassOf 'Progressive muscular dystrophy' 'Facioscapulohumeral dystrophy' SubClassOf 'Progressive muscular dystrophy' http://www.orpha.net/ORDO/Orphanet_268 Autosomal recessive limb-girdle muscular dystrophy type 2B 'Autosomal recessive limb-girdle muscular dystrophy type 2B' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' 'Autosomal recessive limb-girdle muscular dystrophy type 2B' SubClassOf 'Qualitative or quantitative defects of dysferlin' 'Autosomal recessive limb-girdle muscular dystrophy type 2B' SubClassOf 'Qualitative or quantitative defects of dysferlin' 'Autosomal recessive limb-girdle muscular dystrophy type 2B' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' http://www.orpha.net/ORDO/Orphanet_267 Autosomal recessive limb-girdle muscular dystrophy type 2A 'Autosomal recessive limb-girdle muscular dystrophy type 2A' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' 'Autosomal recessive limb-girdle muscular dystrophy type 2A' SubClassOf 'Qualitative or quantitative defects of calpain' 'Autosomal recessive limb-girdle muscular dystrophy type 2A' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' 'Autosomal recessive limb-girdle muscular dystrophy type 2A' SubClassOf 'Qualitative or quantitative defects of calpain' http://www.orpha.net/ORDO/Orphanet_266 Autosomal dominant limb-girdle muscular dystrophy type 1A 'Autosomal dominant limb-girdle muscular dystrophy type 1A' SubClassOf 'Qualitative or quantitative defects of myotilin' 'Autosomal dominant limb-girdle muscular dystrophy type 1A' SubClassOf 'Autosomal dominant limb-girdle muscular dystrophy' 'Autosomal dominant limb-girdle muscular dystrophy type 1A' SubClassOf 'Qualitative or quantitative defects of myotilin' 'Autosomal dominant limb-girdle muscular dystrophy type 1A' SubClassOf 'Autosomal dominant limb-girdle muscular dystrophy' http://www.orpha.net/ORDO/Orphanet_265 Autosomal dominant limb-girdle muscular dystrophy type 1C 'Autosomal dominant limb-girdle muscular dystrophy type 1C' SubClassOf 'Qualitative or quantitative defects of caveolin-3' 'Autosomal dominant limb-girdle muscular dystrophy type 1C' SubClassOf 'Rippling muscle disease' 'Autosomal dominant limb-girdle muscular dystrophy type 1C' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020704 http://www.orpha.net/ORDO/Orphanet_264 Autosomal dominant limb-girdle muscular dystrophy type 1B 'Autosomal dominant limb-girdle muscular dystrophy type 1B' SubClassOf 'Autosomal dominant limb-girdle muscular dystrophy' 'Autosomal dominant limb-girdle muscular dystrophy type 1B' SubClassOf 'Neuromuscular disease with dilated cardiomyopathy' 'Autosomal dominant limb-girdle muscular dystrophy type 1B' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021106 'Autosomal dominant limb-girdle muscular dystrophy type 1B' SubClassOf 'Autosomal dominant limb-girdle muscular dystrophy' 'Autosomal dominant limb-girdle muscular dystrophy type 1B' SubClassOf 'Neuromuscular disease with dilated cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_263 Limb-girdle muscular dystrophy 'Limb-girdle muscular dystrophy' SubClassOf 'Progressive muscular dystrophy' 'Limb-girdle muscular dystrophy' SubClassOf 'Progressive muscular dystrophy' http://www.orpha.net/ORDO/Orphanet_262 Duchenne and Becker muscular dystrophy 'Duchenne and Becker muscular dystrophy' SubClassOf 'Neuromuscular disease with dilated cardiomyopathy' 'Duchenne and Becker muscular dystrophy' SubClassOf 'Progressive muscular dystrophy' 'Duchenne and Becker muscular dystrophy' SubClassOf 'Neuromuscular disease with dilated cardiomyopathy' 'Duchenne and Becker muscular dystrophy' SubClassOf 'Progressive muscular dystrophy' http://www.orpha.net/ORDO/Orphanet_261 Emery-Dreifuss muscular dystrophy 'Emery-Dreifuss muscular dystrophy' SubClassOf 'Progressive muscular dystrophy' 'Emery-Dreifuss muscular dystrophy' SubClassOf 'Neuromuscular disease with dilated cardiomyopathy' 'Emery-Dreifuss muscular dystrophy' SubClassOf 'Progressive muscular dystrophy' 'Emery-Dreifuss muscular dystrophy' SubClassOf 'Neuromuscular disease with dilated cardiomyopathy' http://purl.obolibrary.org/obo/HP_0002536 Abnormal cortical gyration 'Abnormal cortical gyration' SubClassOf 'abnormality of brain morphology' 'Abnormal cortical gyration' SubClassOf 'abnormality of brain morphology' http://www.orpha.net/ORDO/Orphanet_314689 Combined immunodeficiency due to STK4 deficiency 'Combined immunodeficiency due to STK4 deficiency' SubClassOf 'Combined T and B cell immunodeficiency' 'Combined immunodeficiency due to STK4 deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018814 http://www.orpha.net/ORDO/Orphanet_268865 Neurenteric cyst 'Neurenteric cyst' SubClassOf 'Malformation of the neurenteric canal, spinal cord and column' 'Neurenteric cyst' SubClassOf 'Malformation of the neurenteric canal, spinal cord and column' http://www.orpha.net/ORDO/Orphanet_325345 46,XY ovotesticular disorder of sex development '46,XY ovotesticular disorder of sex development' SubClassOf '46,XY disorder of gonadal development' '46,XY ovotesticular disorder of sex development' SubClassOf 'Gonadal dysgenesis of gynecological interest' '46,XY ovotesticular disorder of sex development' SubClassOf '46,XY disorder of gonadal development' '46,XY ovotesticular disorder of sex development' SubClassOf 'Gonadal dysgenesis of gynecological interest' http://purl.obolibrary.org/obo/HP_0002540 Inability to walk 'Inability to walk' SubClassOf 'behavioral abnormality' 'Inability to walk' SubClassOf 'behavioral abnormality' http://www.orpha.net/ORDO/Orphanet_268868 Isolated amyelia 'Isolated amyelia' SubClassOf 'Malformation of the neurenteric canal, spinal cord and column' 'Isolated amyelia' SubClassOf 'Malformation of the neurenteric canal, spinal cord and column' http://www.orpha.net/ORDO/Orphanet_268861 Primary tethered chord syndrome 'Primary tethered chord syndrome' SubClassOf 'Malformation of the neurenteric canal, spinal cord and column' 'Primary tethered chord syndrome' SubClassOf 'Malformation of the neurenteric canal, spinal cord and column' http://www.orpha.net/ORDO/Orphanet_314697 Acquired porencephaly 'Acquired porencephaly' SubClassOf 'Porencephaly' 'Acquired porencephaly' EquivalentTo 'Porencephaly' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021141) 'Acquired porencephaly' SubClassOf 'Porencephaly' 'Acquired porencephaly' SubClassOf 'Familial porencephaly' 'Acquired porencephaly' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021141 http://www.orpha.net/ORDO/Orphanet_231568 Generalized dominant dystrophic epidermolysis bullosa 'Generalized dominant dystrophic epidermolysis bullosa' SubClassOf 'Dystrophic epidermolysis bullosa' 'Generalized dominant dystrophic epidermolysis bullosa' SubClassOf 'Dystrophic epidermolysis bullosa' 'Generalized dominant dystrophic epidermolysis bullosa' SubClassOf 'epidermolysis bullosa dystrophica' http://www.orpha.net/ORDO/Orphanet_278 Corticobasal degeneration 'Corticobasal degeneration' SubClassOf 'brain disease' 'Corticobasal degeneration' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 http://www.orpha.net/ORDO/Orphanet_277 Severe combined immunodeficiency due to adenosine deaminase deficiency 'Severe combined immunodeficiency due to adenosine deaminase deficiency' SubClassOf 'T-B- severe combined immunodeficiency' 'Severe combined immunodeficiency due to adenosine deaminase deficiency' SubClassOf 'Disorder of purine metabolism' 'Severe combined immunodeficiency due to adenosine deaminase deficiency' SubClassOf 'T-B- severe combined immunodeficiency' 'Severe combined immunodeficiency due to adenosine deaminase deficiency' SubClassOf 'Disorder of purine metabolism' http://www.orpha.net/ORDO/Orphanet_275 Severe combined immunodeficiency due to DCLRE1C deficiency 'Severe combined immunodeficiency due to DCLRE1C deficiency' SubClassOf 'T-B- severe combined immunodeficiency' 'Severe combined immunodeficiency due to DCLRE1C deficiency' SubClassOf 'Inborn errors of metabolism' 'Severe combined immunodeficiency due to DCLRE1C deficiency' SubClassOf 'DNA repair deficiency' 'Severe combined immunodeficiency due to DCLRE1C deficiency' SubClassOf 'T-B- severe combined immunodeficiency' http://www.orpha.net/ORDO/Orphanet_274 Bernard-Soulier syndrome 'Bernard-Soulier syndrome' SubClassOf 'Inherited giant platelet disorder' 'Bernard-Soulier syndrome' SubClassOf 'Inherited giant platelet disorder' 'Bernard-Soulier syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 http://www.orpha.net/ORDO/Orphanet_273 Steinert myotonic dystrophy 'Steinert myotonic dystrophy' SubClassOf 'Musculoskeletal disease with cataract' 'Steinert myotonic dystrophy' SubClassOf 'Myotonic dystrophy' 'Steinert myotonic dystrophy' SubClassOf 'Syndrome associated with hypertrophic cardiomyopathy' 'Steinert myotonic dystrophy' SubClassOf 'Myopathy with eye involvement' 'Steinert myotonic dystrophy' SubClassOf 'Musculoskeletal disease with cataract' 'Steinert myotonic dystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020169 'Steinert myotonic dystrophy' SubClassOf 'Myotonic dystrophy' 'Steinert myotonic dystrophy' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'Steinert myotonic dystrophy' SubClassOf 'Syndrome associated with hypertrophic cardiomyopathy' 'Steinert myotonic dystrophy' SubClassOf 'Myopathy with eye involvement' 'Steinert myotonic dystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020016 http://www.orpha.net/ORDO/Orphanet_272 Congenital muscular dystrophy, Fukuyama type 'Congenital muscular dystrophy, Fukuyama type' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'Congenital muscular dystrophy, Fukuyama type' SubClassOf 'Disorder of O-mannosylglycan synthesis' 'Congenital muscular dystrophy, Fukuyama type' SubClassOf 'Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase' 'Congenital muscular dystrophy, Fukuyama type' SubClassOf 'Qualitative or quantitative defects of FKRP' 'Congenital muscular dystrophy, Fukuyama type' SubClassOf 'Syndromic myopia' 'Congenital muscular dystrophy, Fukuyama type' SubClassOf 'Qualitative or quantitative defects of protein O-mannosyltransferase 2' 'Congenital muscular dystrophy, Fukuyama type' SubClassOf 'Qualitative or quantitative defects of fukutin' 'Congenital muscular dystrophy, Fukuyama type' SubClassOf 'Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies' 'Congenital muscular dystrophy, Fukuyama type' SubClassOf 'Congenital disorder of glycosylation with developmental anomaly' 'Congenital muscular dystrophy, Fukuyama type' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' 'Congenital muscular dystrophy, Fukuyama type' SubClassOf 'Walker-Warburg syndrome' 'Congenital muscular dystrophy, Fukuyama type' SubClassOf 'Muscle-eye-brain disease' 'Congenital muscular dystrophy, Fukuyama type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000171 http://www.orpha.net/ORDO/Orphanet_270 Oculopharyngeal muscular dystrophy 'Oculopharyngeal muscular dystrophy' SubClassOf 'Progressive muscular dystrophy' 'Oculopharyngeal muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004746 'Oculopharyngeal muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020169 'Oculopharyngeal muscular dystrophy' SubClassOf 'Myopathy with eye involvement' 'Oculopharyngeal muscular dystrophy' SubClassOf 'Progressive muscular dystrophy' http://www.orpha.net/ORDO/Orphanet_217266 BNAR syndrome 'BNAR syndrome' SubClassOf 'Rare otorhinolaryngological malformation' 'BNAR syndrome' SubClassOf 'Syndromic anorectal malformation' 'BNAR syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'BNAR syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'BNAR syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000110 'BNAR syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'BNAR syndrome' SubClassOf 'Syndromic anorectal malformation' 'BNAR syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' http://www.orpha.net/ORDO/Orphanet_314662 Segmental progressive overgrowth syndrome with fibroadipose hyperplasia 'Segmental progressive overgrowth syndrome with fibroadipose hyperplasia' SubClassOf 'Overgrowth syndrome' 'Segmental progressive overgrowth syndrome with fibroadipose hyperplasia' SubClassOf 'Overgrowth syndrome' http://www.orpha.net/ORDO/Orphanet_289 Ellis Van Creveld syndrome 'Ellis Van Creveld syndrome' SubClassOf 'Short rib-polydactyly syndrome' 'Ellis Van Creveld syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Ellis Van Creveld syndrome' SubClassOf 'Rare syndrome with cardiac malformations' 'Ellis Van Creveld syndrome' SubClassOf 'autosomal recessive disease' 'Ellis Van Creveld syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Ellis Van Creveld syndrome' SubClassOf 'Jeune syndrome' 'Ellis Van Creveld syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Ellis Van Creveld syndrome' SubClassOf 'Rare syndrome with cardiac malformations' http://www.orpha.net/ORDO/Orphanet_288 Hereditary elliptocytosis 'Hereditary elliptocytosis' SubClassOf 'Rare constitutional hemolytic anemia due to a red cell membrane anomaly' 'Hereditary elliptocytosis' SubClassOf 'Rare constitutional hemolytic anemia due to a red cell membrane anomaly' http://www.orpha.net/ORDO/Orphanet_287 Ehlers-Danlos syndrome, classic type 'Ehlers-Danlos syndrome, classic type' SubClassOf 'Rare disease with dentinogenesis imperfecta' 'Ehlers-Danlos syndrome, classic type' SubClassOf 'Ehlers-Danlos syndrome' 'Ehlers-Danlos syndrome, classic type' SubClassOf 'Rare disease with dentinogenesis imperfecta' 'Ehlers-Danlos syndrome, classic type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015880 'Ehlers-Danlos syndrome, classic type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 'Ehlers-Danlos syndrome, classic type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015216 'Ehlers-Danlos syndrome, classic type' SubClassOf 'Ehlers-Danlos syndrome' http://www.orpha.net/ORDO/Orphanet_286 Ehlers-Danlos syndrome, vascular type 'Ehlers-Danlos syndrome, vascular type' SubClassOf 'Ehlers-Danlos syndrome' 'Ehlers-Danlos syndrome, vascular type' SubClassOf 'Rare disease with thoracic aortic aneurysm and aortic dissection' 'Ehlers-Danlos syndrome, vascular type' SubClassOf 'Ehlers-Danlos syndrome' 'Ehlers-Danlos syndrome, vascular type' SubClassOf 'Rare disease with thoracic aortic aneurysm and aortic dissection' http://www.ebi.ac.uk/efo/EFO_0004710 pelvic organ prolapse 'pelvic organ prolapse' SubClassOf 'reproductive system disease' 'pelvic organ prolapse' SubClassOf 'reproductive system disease' http://www.orpha.net/ORDO/Orphanet_285 Ehlers-Danlos syndrome, hypermobility type 'Ehlers-Danlos syndrome, hypermobility type' SubClassOf 'Ehlers-Danlos syndrome' 'Ehlers-Danlos syndrome, hypermobility type' SubClassOf 'Ehlers-Danlos syndrome' http://www.orpha.net/ORDO/Orphanet_268838 Leptomyelolipoma 'Leptomyelolipoma' SubClassOf 'Lipoma associated with neurospinal dysraphism' 'Leptomyelolipoma' SubClassOf 'Lipoma associated with neurospinal dysraphism' http://www.ebi.ac.uk/efo/EFO_0004713 FEV/FEC ratio 'FEV/FEC ratio' SubClassOf 'is_about' some 'respiratory system disease' 'FEV/FEC ratio' SubClassOf 'is_about' some 'respiratory system' http://www.orpha.net/ORDO/Orphanet_282 Frontotemporal dementia 'Frontotemporal dementia' SubClassOf 'Genetic frontotemporal degeneration with dementia' 'Frontotemporal dementia' SubClassOf 'Genetic neurodegenerative disease with dementia' 'Frontotemporal dementia' SubClassOf 'Genetic frontotemporal degeneration with dementia' http://www.orpha.net/ORDO/Orphanet_281 Monosomy 5p 'Monosomy 5p' SubClassOf 'Partial deletion of the short arm of chromosome 5' 'Monosomy 5p' SubClassOf 'Syndrome with a symptomatic strabismus' 'Monosomy 5p' SubClassOf 'Syndromic epicanthus' 'Monosomy 5p' SubClassOf 'Partial deletion of the short arm of chromosome 5' 'Monosomy 5p' SubClassOf 'Syndrome with a symptomatic strabismus' 'Monosomy 5p' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000761 'Monosomy 5p' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020226 'Monosomy 5p' SubClassOf 'Syndromic epicanthus' http://www.ebi.ac.uk/efo/EFO_0004711 elephantiasis 'elephantiasis' SubClassOf 'immune system disease' 'elephantiasis' SubClassOf 'Lymphedema' http://www.orpha.net/ORDO/Orphanet_280 Wolf-Hirschhorn syndrome 'Wolf-Hirschhorn syndrome' SubClassOf 'Syndromic genetic deafness' 'Wolf-Hirschhorn syndrome' SubClassOf 'Partial deletion of the short arm of chromosome 4' 'Wolf-Hirschhorn syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015880 'Wolf-Hirschhorn syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015652 'Wolf-Hirschhorn syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Wolf-Hirschhorn syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020226 'Wolf-Hirschhorn syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015216 'Wolf-Hirschhorn syndrome' SubClassOf 'Syndromic genetic deafness' 'Wolf-Hirschhorn syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000761 'Wolf-Hirschhorn syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Wolf-Hirschhorn syndrome' SubClassOf 'Partial deletion of the short arm of chromosome 4' http://www.ebi.ac.uk/efo/EFO_0004712 podoconiosis 'podoconiosis' SubClassOf 'elephantiasis' 'podoconiosis' SubClassOf 'elephantiasis' http://www.orpha.net/ORDO/Orphanet_314667 TMEM165-CDG 'TMEM165-CDG' SubClassOf 'Congenital disorder of glycosylation-related bone disorder' 'TMEM165-CDG' SubClassOf 'Congenital disorder of glycosylation with hepatic involvement' 'TMEM165-CDG' SubClassOf 'Primary bone dysplasia with decreased bone density' 'TMEM165-CDG' SubClassOf 'Disorder of protein N-glycosylation' 'TMEM165-CDG' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 'TMEM165-CDG' SubClassOf 'Congenital disorder of glycosylation-related bone disorder' 'TMEM165-CDG' SubClassOf 'Congenital disorder of glycosylation with hepatic involvement' 'TMEM165-CDG' SubClassOf 'Primary bone dysplasia with decreased bone density' 'TMEM165-CDG' SubClassOf 'Disorder of protein N-glycosylation' 'TMEM165-CDG' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'TMEM165-CDG' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 'TMEM165-CDG' SubClassOf 'congenital disorder of glycosylation type II' http://www.ebi.ac.uk/efo/EFO_0004718 vascular dementia 'vascular dementia' SubClassOf 'central nervous system disease' 'vascular dementia' SubClassOf 'cerebrovascular disorder' 'vascular dementia' SubClassOf 'has_disease_location' some 'brain blood vessel' 'vascular dementia' SubClassOf 'cerebrovascular disorder' 'vascular dementia' SubClassOf 'cognitive disorder' http://www.orpha.net/ORDO/Orphanet_268843 Malformation of the neurenteric canal, spinal cord and column 'Malformation of the neurenteric canal, spinal cord and column' SubClassOf 'Neural tube defect' 'Malformation of the neurenteric canal, spinal cord and column' SubClassOf 'Neural tube defect' http://www.ebi.ac.uk/efo/EFO_0004715 MRI defined brain infarct 'MRI defined brain infarct' SubClassOf 'central nervous system disease' 'MRI defined brain infarct' SubClassOf 'brain infarction' 'MRI defined brain infarct' SubClassOf 'brain infarction' 'MRI defined brain infarct' SubClassOf 'has_disease_location' some ('central nervous system' or ('part_of' some 'central nervous system')) http://www.ebi.ac.uk/efo/EFO_0004716 obsolete_thyrotoxic periodic paralysis 'obsolete_thyrotoxic periodic paralysis' SubClassOf 'obsolete class' 'obsolete_thyrotoxic periodic paralysis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004719 pemphigus vulgaris 'pemphigus vulgaris' SubClassOf 'pemphigus' 'pemphigus vulgaris' SubClassOf 'pemphigus' http://purl.obolibrary.org/obo/BTO_0004059 CCD-18Co cell 'CCD-18Co cell' SubClassOf 'develops_from' some 'colon' 'CCD-18Co cell' SubClassOf 'bearer_of' some 'normal' http://www.orpha.net/ORDO/Orphanet_298 Mitochondrial neurogastrointestinal encephalomyopathy 'Mitochondrial neurogastrointestinal encephalomyopathy' SubClassOf 'Mitochondrial disease with peripheral neuropathy' 'Mitochondrial neurogastrointestinal encephalomyopathy' SubClassOf 'Disorder of pyrimidine metabolism' 'Mitochondrial neurogastrointestinal encephalomyopathy' SubClassOf 'Mitochondrial disease with peripheral neuropathy' 'Mitochondrial neurogastrointestinal encephalomyopathy' SubClassOf 'Myopathy with eye involvement' 'Mitochondrial neurogastrointestinal encephalomyopathy' SubClassOf 'Mitochondrial DNA maintenance syndrome' 'Mitochondrial neurogastrointestinal encephalomyopathy' SubClassOf 'Mitochondrial myopathy' 'Mitochondrial neurogastrointestinal encephalomyopathy' SubClassOf 'Disorder of pyrimidine metabolism' 'Mitochondrial neurogastrointestinal encephalomyopathy' SubClassOf 'Mitochondrial disease with eye involvement' 'Mitochondrial neurogastrointestinal encephalomyopathy' SubClassOf 'Metabolic disease with intestinal involvement' 'Mitochondrial neurogastrointestinal encephalomyopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016402 'Mitochondrial neurogastrointestinal encephalomyopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020169 http://www.orpha.net/ORDO/Orphanet_268829 Basal encephalocele 'Basal encephalocele' SubClassOf 'Isolated encephalocele' 'Basal encephalocele' SubClassOf 'Isolated encephalocele' http://www.orpha.net/ORDO/Orphanet_296 Enchondromatosis 'Enchondromatosis' SubClassOf 'Overgrowth syndrome' 'Enchondromatosis' SubClassOf 'Inherited cancer-predisposing syndrome' 'Enchondromatosis' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'Enchondromatosis' SubClassOf 'Malformation syndrome with hamartosis' 'Enchondromatosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 'Enchondromatosis' SubClassOf 'disease has feature' some http://purl.obolibrary.org/obo/MONDO_0000631 'Enchondromatosis' SubClassOf 'Overgrowth syndrome' 'Enchondromatosis' SubClassOf 'Inherited cancer-predisposing syndrome' 'Enchondromatosis' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'Enchondromatosis' SubClassOf 'Malformation syndrome with hamartosis' http://www.ebi.ac.uk/efo/EFO_0004702 obsolete_response to iloperidone 'obsolete_response to iloperidone' SubClassOf 'obsolete class' 'obsolete_response to iloperidone' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004703 age at menarche 'age at menarche' SubClassOf 'is_about' some 'menarche' http://www.orpha.net/ORDO/Orphanet_314679 Cerebro-facio-articular syndrome 'Cerebro-facio-articular syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Cerebro-facio-articular syndrome' SubClassOf 'Rare genetic neurological disorder' 'Cerebro-facio-articular syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Cerebro-facio-articular syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Cerebro-facio-articular syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.ebi.ac.uk/efo/EFO_0004701 metamphetamine dependence 'metamphetamine dependence' SubClassOf 'drug dependence' 'metamphetamine dependence' SubClassOf 'drug dependence' http://www.ebi.ac.uk/efo/EFO_0004707 infantile hypertrophic pyloric stenosis 'infantile hypertrophic pyloric stenosis' SubClassOf 'digestive system disease' 'infantile hypertrophic pyloric stenosis' SubClassOf 'pyloric stenosis' 'infantile hypertrophic pyloric stenosis' SubClassOf 'intestinal disease' http://www.orpha.net/ORDO/Orphanet_268832 Lipoma associated with neurospinal dysraphism 'Lipoma associated with neurospinal dysraphism' SubClassOf 'Neural tube closure defect' 'Lipoma associated with neurospinal dysraphism' SubClassOf 'Neural tube closure defect' http://www.ebi.ac.uk/efo/EFO_0004704 age at menopause 'age at menopause' SubClassOf 'is_about' some 'menopause' http://www.ebi.ac.uk/efo/EFO_0004705 hypothyroidism 'hypothyroidism' SubClassOf 'thyroid disease' 'hypothyroidism' SubClassOf 'has_disease_location' some 'thyroid gland' 'hypothyroidism' SubClassOf 'thyroid disease' http://www.ebi.ac.uk/efo/EFO_0004708 nodular sclerosis Hodgkin lymphoma 'nodular sclerosis Hodgkin lymphoma' SubClassOf 'Hodgkins lymphoma' 'nodular sclerosis Hodgkin lymphoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0009348 http://www.orpha.net/ORDO/Orphanet_268835 Lipomyelomeningocele 'Lipomyelomeningocele' SubClassOf 'Lipoma associated with neurospinal dysraphism' 'Lipomyelomeningocele' SubClassOf 'Lipoma associated with neurospinal dysraphism' http://www.ebi.ac.uk/efo/EFO_0004709 obsolete_orofacial cleft 'obsolete_orofacial cleft' SubClassOf 'obsolete class' 'obsolete_orofacial cleft' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/UBERON_0001902 epithelium of small intestine 'epithelium of small intestine' SubClassOf 'epithelium' 'epithelium of small intestine' SubClassOf 'intestinal epithelium' 'epithelium of small intestine' SubClassOf 'part_of' some 'small intestine' http://www.orpha.net/ORDO/Orphanet_169100 Immunodeficiency due to CD25 deficiency 'Immunodeficiency due to CD25 deficiency' SubClassOf 'Immunodeficiency syndrome with autoimmunity' 'Immunodeficiency due to CD25 deficiency' SubClassOf 'Immunodeficiency syndrome with autoimmunity' http://www.ebi.ac.uk/efo/EFO_0004610 acute lung injury 'acute lung injury' SubClassOf 'lung disease' 'acute lung injury' SubClassOf 'has_disease_location' some ('lung' or ('part_of' some 'lung') or ('located_in' some 'lung')) 'acute lung injury' SubClassOf 'lung disease' 'acute lung injury' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015118 http://www.ebi.ac.uk/efo/EFO_0005942 chemotherapy-induced hypertension 'chemotherapy-induced hypertension' SubClassOf 'hypertension' 'chemotherapy-induced hypertension' SubClassOf 'hypertension' http://www.ebi.ac.uk/efo/EFO_0004611 low density lipoprotein cholesterol measurement 'low density lipoprotein cholesterol measurement' SubClassOf 'is_about' some 'lipid' 'low density lipoprotein cholesterol measurement' SubClassOf 'is_about' some 'coronary heart disease' 'low density lipoprotein cholesterol measurement' SubClassOf 'is_about' some 'LDL cholesterol' http://www.ebi.ac.uk/efo/EFO_0005941 mammographic density measurement 'mammographic density measurement' SubClassOf 'is_about' some 'breast' 'mammographic density measurement' SubClassOf 'is_about' some 'breast carcinoma' http://purl.obolibrary.org/obo/UBERON_0001905 pineal body 'pineal body' SubClassOf 'gland' 'pineal body' SubClassOf 'part_of' some 'endocrine system' 'pineal body' SubClassOf 'part_of' some 'epithalamus' 'pineal body' SubClassOf http://purl.obolibrary.org/obo/UBERON_0003296 'pineal body' SubClassOf http://purl.obolibrary.org/obo/UBERON_0010134 http://www.ebi.ac.uk/efo/EFO_0004614 apolipoprotein A 1 measurement 'apolipoprotein A 1 measurement' SubClassOf ('is_about' some 'stroke') or ('is_about' some 'coronary heart disease') 'apolipoprotein A 1 measurement' SubClassOf 'is_about' some 'lipoprotein' 'apolipoprotein A 1 measurement' SubClassOf 'is_about' some 'inflammatory response' http://purl.obolibrary.org/obo/UBERON_0001906 subthalamic nucleus 'subthalamic nucleus' SubClassOf 'part_of' some 'dorsal plus ventral thalamus' http://www.ebi.ac.uk/efo/EFO_0004615 apolipoprotein B measurement 'apolipoprotein B measurement' SubClassOf 'is_about' some 'lipoprotein' http://www.ebi.ac.uk/efo/EFO_0004612 high density lipoprotein cholesterol measurement 'high density lipoprotein cholesterol measurement' SubClassOf 'is_about' some 'HDL cholesterol' 'high density lipoprotein cholesterol measurement' SubClassOf 'is_about' some 'lipid' http://www.ebi.ac.uk/efo/EFO_0004613 obsolete_triglyceride measurement 'obsolete_triglyceride measurement' SubClassOf 'obsolete class' 'obsolete_triglyceride measurement' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004618 vitamin K measurement 'vitamin K measurement' SubClassOf 'is_about' some 'vitamin' http://www.ebi.ac.uk/efo/EFO_0004619 factor VII measurement 'factor VII measurement' SubClassOf 'is_about' some 'protein' 'factor VII measurement' SubClassOf 'is_about' some 'enzyme' http://www.ebi.ac.uk/efo/EFO_0005949 antinuclear antibody measurement 'antinuclear antibody measurement' SubClassOf 'is_about' some ('autoimmune disease' and ('has_role' some 'biomarker')) 'antinuclear antibody measurement' SubClassOf 'is_about' some 'antibody' http://www.ebi.ac.uk/efo/EFO_0004616 osteoarthritis, knee 'osteoarthritis, knee' SubClassOf 'osteoarthritis' 'osteoarthritis, knee' SubClassOf 'has_disease_location' some ('skeletal system' or ('part_of' some 'skeletal system')) 'osteoarthritis, knee' SubClassOf 'osteoarthritis' http://www.ebi.ac.uk/efo/EFO_0004617 cystatin C measurement 'cystatin C measurement' SubClassOf 'is_about' some 'protein' 'cystatin C measurement' SubClassOf 'is_about' some 'kidney' 'cystatin C measurement' SubClassOf 'is_about' some 'kidney disease' http://www.orpha.net/ORDO/Orphanet_171430 Severe congenital nemaline myopathy 'Severe congenital nemaline myopathy' SubClassOf 'Qualitative or quantitative defects of nebulin' 'Severe congenital nemaline myopathy' SubClassOf 'Nemaline myopathy' 'Severe congenital nemaline myopathy' SubClassOf 'Qualitative or quantitative defects of alpha-actin' 'Severe congenital nemaline myopathy' SubClassOf 'Qualitative or quantitative defects of nebulin' 'Severe congenital nemaline myopathy' SubClassOf 'Nemaline myopathy' 'Severe congenital nemaline myopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018701 'Severe congenital nemaline myopathy' SubClassOf 'Qualitative or quantitative defects of alpha-actin' http://www.orpha.net/ORDO/Orphanet_171433 Intermediate nemaline myopathy 'Intermediate nemaline myopathy' SubClassOf 'Qualitative or quantitative defects of nebulin' 'Intermediate nemaline myopathy' SubClassOf 'Qualitative or quantitative defects of tropomyosin' 'Intermediate nemaline myopathy' SubClassOf 'Qualitative or quantitative defects of alpha-actin' 'Intermediate nemaline myopathy' SubClassOf 'Nemaline myopathy' 'Intermediate nemaline myopathy' SubClassOf 'Qualitative or quantitative defects of nebulin' 'Intermediate nemaline myopathy' SubClassOf 'Qualitative or quantitative defects of tropomyosin' 'Intermediate nemaline myopathy' SubClassOf 'Qualitative or quantitative defects of alpha-actin' 'Intermediate nemaline myopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018701 'Intermediate nemaline myopathy' SubClassOf 'Nemaline myopathy' http://www.orpha.net/ORDO/Orphanet_171436 Typical nemaline myopathy 'Typical nemaline myopathy' SubClassOf 'Nemaline myopathy' 'Typical nemaline myopathy' SubClassOf 'Qualitative or quantitative defects of tropomyosin' 'Typical nemaline myopathy' SubClassOf 'Qualitative or quantitative defects of alpha-actin' 'Typical nemaline myopathy' SubClassOf 'Qualitative or quantitative defects of nebulin' 'Typical nemaline myopathy' SubClassOf 'Nemaline myopathy' 'Typical nemaline myopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018701 'Typical nemaline myopathy' SubClassOf 'Qualitative or quantitative defects of tropomyosin' 'Typical nemaline myopathy' SubClassOf 'Qualitative or quantitative defects of alpha-actin' 'Typical nemaline myopathy' SubClassOf 'Qualitative or quantitative defects of nebulin' http://purl.obolibrary.org/obo/UBERON_0001911 mammary gland 'mammary gland' SubClassOf 'gland' 'mammary gland' SubClassOf 'develops_from' some 'primordium' 'mammary gland' SubClassOf 'develops_from' some 'ectoderm' 'mammary gland' SubClassOf http://purl.obolibrary.org/obo/UBERON_0019319 http://www.orpha.net/ORDO/Orphanet_171439 Childhood-onset nemaline myopathy 'Childhood-onset nemaline myopathy' SubClassOf 'Qualitative or quantitative defects of nebulin' 'Childhood-onset nemaline myopathy' SubClassOf 'Qualitative or quantitative defects of alpha-actin' 'Childhood-onset nemaline myopathy' SubClassOf 'Qualitative or quantitative defects of tropomyosin' 'Childhood-onset nemaline myopathy' SubClassOf 'Nemaline myopathy' 'Childhood-onset nemaline myopathy' SubClassOf 'Qualitative or quantitative defects of nebulin' 'Childhood-onset nemaline myopathy' SubClassOf 'Qualitative or quantitative defects of alpha-actin' 'Childhood-onset nemaline myopathy' SubClassOf 'Qualitative or quantitative defects of tropomyosin' 'Childhood-onset nemaline myopathy' SubClassOf 'Nemaline myopathy' http://www.ebi.ac.uk/efo/EFO_0005934 disease cell type 'disease cell type' EquivalentTo 'cell type' and ('bearer_of' some 'disease') http://www.ebi.ac.uk/efo/EFO_0005932 animal disease 'animal disease' SubClassOf 'disease' 'animal disease' SubClassOf 'disease' 'animal disease' DisjointWith 'disease' and ('inheres_in' some 'Homo sapiens') http://www.orpha.net/ORDO/Orphanet_183422 Polymalformative genetic syndrome with increased risk of developing cancer 'Polymalformative genetic syndrome with increased risk of developing cancer' SubClassOf 'Inherited cancer-predisposing syndrome' 'Polymalformative genetic syndrome with increased risk of developing cancer' SubClassOf 'Inherited cancer-predisposing syndrome' http://www.ebi.ac.uk/efo/EFO_0004607 duodenal ulcer 'duodenal ulcer' SubClassOf 'digestive system disease' 'duodenal ulcer' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002866 'duodenal ulcer' SubClassOf 'has_disease_location' some 'duodenum' 'duodenal ulcer' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004247 http://www.ebi.ac.uk/efo/EFO_0005939 parental genotype effect measurement 'parental genotype effect measurement' SubClassOf 'is_about' some 'genotype' http://www.ebi.ac.uk/efo/EFO_0004608 cystic fibrosis associated meconium ileum 'cystic fibrosis associated meconium ileum' SubClassOf 'digestive system disease' 'cystic fibrosis associated meconium ileum' SubClassOf 'Cystic fibrosis' 'cystic fibrosis associated meconium ileum' SubClassOf 'has_disease_location' some 'digestive system' 'cystic fibrosis associated meconium ileum' SubClassOf 'Cystic fibrosis' http://www.ebi.ac.uk/efo/EFO_0005938 congenital left-sided heart lesions 'congenital left-sided heart lesions' SubClassOf 'congenital heart malformation' 'congenital left-sided heart lesions' SubClassOf 'congenital heart malformation' 'congenital left-sided heart lesions' SubClassOf 'has_disease_location' some 'heart component' http://www.ebi.ac.uk/efo/EFO_0004606 gallbladder neoplasm 'gallbladder neoplasm' SubClassOf 'neoplasm' 'gallbladder neoplasm' SubClassOf 'gallbladder disease' 'gallbladder neoplasm' SubClassOf 'Hepatobiliary Neoplasm' http://www.ebi.ac.uk/efo/EFO_0004609 treatment refractory schizophrenia 'treatment refractory schizophrenia' SubClassOf 'schizophrenia' 'treatment refractory schizophrenia' SubClassOf 'schizophrenia' http://purl.obolibrary.org/obo/FBbt_00007435 endocrine system component 'endocrine system component' SubClassOf 'part_of' some 'endocrine system' http://www.orpha.net/ORDO/Orphanet_171442 Adult-onset nemaline myopathy 'Adult-onset nemaline myopathy' SubClassOf 'Nemaline myopathy' 'Adult-onset nemaline myopathy' SubClassOf 'Qualitative or quantitative defects of nebulin' 'Adult-onset nemaline myopathy' SubClassOf 'Qualitative or quantitative defects of alpha-actin' 'Adult-onset nemaline myopathy' SubClassOf 'Nemaline myopathy' 'Adult-onset nemaline myopathy' SubClassOf 'Qualitative or quantitative defects of nebulin' 'Adult-onset nemaline myopathy' SubClassOf 'Qualitative or quantitative defects of alpha-actin' http://purl.obolibrary.org/obo/UBERON_0001926 lateral geniculate body 'lateral geniculate body' SubClassOf 'part_of' some 'dorsal plus ventral thalamus' 'lateral geniculate body' DisjointWith 'medial geniculate body' http://www.ebi.ac.uk/efo/EFO_0004632 nevus count 'nevus count' SubClassOf 'is_about' some 'zone of skin' http://www.ebi.ac.uk/efo/EFO_0004633 protein C measurement 'protein C measurement' SubClassOf 'is_about' some 'protein' 'protein C measurement' SubClassOf 'is_about' some 'blood component' http://www.ebi.ac.uk/efo/EFO_0004630 factor VIII measurement 'factor VIII measurement' SubClassOf 'is_about' some 'protein' 'factor VIII measurement' SubClassOf 'is_about' some 'blood component' http://www.ebi.ac.uk/efo/EFO_0004631 vitamin D measurement 'vitamin D measurement' SubClassOf 'is_about' some 'Vitamin D' 'vitamin D measurement' SubClassOf 'is_about' some 'vitamin' http://purl.obolibrary.org/obo/UBERON_0001927 medial geniculate body 'medial geniculate body' SubClassOf 'part_of' some 'dorsal plus ventral thalamus' 'lateral geniculate body' DisjointWith 'medial geniculate body' http://purl.obolibrary.org/obo/UBERON_0001928 preoptic area 'preoptic area' SubClassOf 'part_of' some 'diencephalon' http://www.ebi.ac.uk/efo/EFO_0004637 protein S measurement 'protein S measurement' SubClassOf 'is_about' some 'blood component' 'protein S measurement' SubClassOf 'is_about' some 'protein' http://purl.obolibrary.org/obo/UBERON_0001929 supraoptic nucleus 'supraoptic nucleus' SubClassOf 'part_of' some 'hypothalamus' http://www.ebi.ac.uk/efo/EFO_0004634 coagulation factor measurement 'coagulation factor measurement' SubClassOf 'is_about' some 'blood' 'coagulation factor measurement' EquivalentTo 'is_about' some 'blood coagulation' http://www.ebi.ac.uk/efo/EFO_0004635 leptin receptor measurement 'leptin receptor measurement' SubClassOf ('is_about' some 'obesity') and ('is_about' some 'leptin') http://www.ebi.ac.uk/efo/EFO_0004639 phospholipid measurement 'phospholipid measurement' SubClassOf 'is_about' some 'phospholipid' http://www.orpha.net/ORDO/Orphanet_169110 Immunoglobulin heavy chain deficiency 'Immunoglobulin heavy chain deficiency' SubClassOf 'Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells' 'Immunoglobulin heavy chain deficiency' SubClassOf 'Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells' http://www.ebi.ac.uk/efo/EFO_0004621 vitamin B6 measurement 'vitamin B6 measurement' SubClassOf 'is_about' some 'vitamin' http://www.ebi.ac.uk/efo/EFO_0005952 non-Hodgkins lymphoma 'non-Hodgkins lymphoma' SubClassOf 'lymphoma' 'non-Hodgkins lymphoma' SubClassOf 'lymphoma' http://www.ebi.ac.uk/efo/EFO_0005950 head and neck neoplasia 'head and neck neoplasia' SubClassOf 'neoplasm' 'head and neck neoplasia' SubClassOf 'head and neck disorder' 'head and neck neoplasia' SubClassOf 'neoplasm' 'head and neck neoplasia' EquivalentTo 'neoplasm' and ('has_disease_location' some ('neck' or ('part_of' some 'neck'))) 'head and neck neoplasia' EquivalentTo 'neoplasm' and ('has_disease_location' some ('head' or ('part_of' some 'head'))) 'head and neck neoplasia' SubClassOf 'head and neck disorder' http://www.ebi.ac.uk/efo/EFO_0004620 vitamin B12 measurement 'vitamin B12 measurement' SubClassOf 'is_about' some 'vitamin' http://www.ebi.ac.uk/efo/EFO_0004625 progranulin measurement 'progranulin measurement' SubClassOf 'measurement' 'progranulin measurement' SubClassOf 'is_about' some 'Frontotemporal dementia' 'progranulin measurement' SubClassOf 'mental or behavioural disorder biomarker' 'progranulin measurement' SubClassOf 'is_about' some 'central nervous system' http://www.ebi.ac.uk/efo/EFO_0004626 IGFBP-3 measurement 'IGFBP-3 measurement' SubClassOf 'is_about' some 'protein' 'IGFBP-3 measurement' SubClassOf 'is_about' some ('prostate carcinoma' and ('has_role' some 'biomarker')) http://www.ebi.ac.uk/efo/EFO_0004623 fibrinogen measurement 'fibrinogen measurement' SubClassOf 'is_about' some 'protein' 'fibrinogen measurement' SubClassOf 'is_about' some 'blood component' http://www.ebi.ac.uk/efo/EFO_0004624 prostate specific antigen measurement 'prostate specific antigen measurement' SubClassOf 'is_about' some 'prostate gland' 'prostate specific antigen measurement' SubClassOf 'is_about' some ('prostate carcinoma' and ('has_role' some 'biomarker')) http://www.ebi.ac.uk/efo/EFO_0004629 von Willebrand factor measurement 'von Willebrand factor measurement' SubClassOf 'is_about' some 'blood component' 'von Willebrand factor measurement' SubClassOf 'is_about' some 'protein' http://www.ebi.ac.uk/efo/EFO_0004627 IGF-1 measurement 'IGF-1 measurement' SubClassOf 'is_about' some 'hormone' 'IGF-1 measurement' SubClassOf 'is_about' some ('cancer' and ('has_role' some 'biomarker')) 'IGF-1 measurement' SubClassOf 'is_about' some 'protein' http://www.orpha.net/ORDO/Orphanet_399685 Rare male infertility due to testicular endocrine disorder 'Rare male infertility due to testicular endocrine disorder' SubClassOf 'Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin' 'Rare male infertility due to testicular endocrine disorder' SubClassOf 'Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin' http://www.orpha.net/ORDO/Orphanet_305 Junctional epidermolysis bullosa 'Junctional epidermolysis bullosa' SubClassOf 'epidermolysis bullosa' 'Junctional epidermolysis bullosa' SubClassOf 'Inherited epidermolysis bullosa' 'Junctional epidermolysis bullosa' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Junctional epidermolysis bullosa' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020014 'Junctional epidermolysis bullosa' SubClassOf 'epidermolysis bullosa' 'Junctional epidermolysis bullosa' SubClassOf 'Inherited epidermolysis bullosa' 'Junctional epidermolysis bullosa' SubClassOf 'Malformation syndrome with skin/mucosae involvement' http://www.orpha.net/ORDO/Orphanet_304 Epidermolysis bullosa simplex 'Epidermolysis bullosa simplex' SubClassOf 'Inherited epidermolysis bullosa' 'Epidermolysis bullosa simplex' SubClassOf 'Inherited epidermolysis bullosa' http://www.orpha.net/ORDO/Orphanet_303 Dystrophic epidermolysis bullosa 'Dystrophic epidermolysis bullosa' SubClassOf 'Inherited epidermolysis bullosa' 'Dystrophic epidermolysis bullosa' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Dystrophic epidermolysis bullosa' SubClassOf 'Inherited epidermolysis bullosa' 'Dystrophic epidermolysis bullosa' SubClassOf 'Malformation syndrome with skin/mucosae involvement' http://www.orpha.net/ORDO/Orphanet_302 Epidermodysplasia verruciformis 'Epidermodysplasia verruciformis' SubClassOf 'Other immunodeficiency syndromes due to defects in innate immunity' 'Epidermodysplasia verruciformis' SubClassOf 'Genetic immune deficiency with skin involvement' 'Epidermodysplasia verruciformis' SubClassOf 'Other immunodeficiency syndromes due to defects in innate immunity' 'Epidermodysplasia verruciformis' SubClassOf 'Genetic immune deficiency with skin involvement' http://purl.obolibrary.org/obo/UBERON_2005010 mid cerebral vein 'mid cerebral vein' SubClassOf http://purl.obolibrary.org/obo/UBERON_0009141 'mid cerebral vein' SubClassOf http://purl.obolibrary.org/obo/UBERON_0003496 http://www.ebi.ac.uk/efo/EFO_0004655 obsolete_response to methylphenidate 'obsolete_response to methylphenidate' SubClassOf 'obsolete class' 'obsolete_response to methylphenidate' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/UBERON_2005017 primordial midbrain channel 'primordial midbrain channel' SubClassOf http://purl.obolibrary.org/obo/UBERON_0009141 'primordial midbrain channel' SubClassOf http://purl.obolibrary.org/obo/UBERON_0003496 http://www.orpha.net/ORDO/Orphanet_315 Erythrokeratoderma "en cocardes" 'Erythrokeratoderma "en cocardes"' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019270 http://www.orpha.net/ORDO/Orphanet_314 Erythroderma desquamativum 'Erythroderma desquamativum' SubClassOf 'Genetic immune deficiency with skin involvement' 'Erythroderma desquamativum' SubClassOf 'Genetic immune deficiency with skin involvement' http://www.orpha.net/ORDO/Orphanet_206546 Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers 'Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers' SubClassOf 'Qualitative or quantitative defects of dystrophin' 'Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers' SubClassOf 'Duchenne and Becker muscular dystrophy' 'Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers' SubClassOf 'Qualitative or quantitative defects of dystrophin' 'Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers' SubClassOf 'Duchenne and Becker muscular dystrophy' http://www.orpha.net/ORDO/Orphanet_313 Lamellar ichthyosis 'Lamellar ichthyosis' SubClassOf 'Secondary ectropion' 'Lamellar ichthyosis' SubClassOf 'Ichthyosis associated with ocular features' 'Lamellar ichthyosis' SubClassOf 'Secondary ectropion' 'Lamellar ichthyosis' SubClassOf 'Ichthyosis associated with ocular features' 'Lamellar ichthyosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019269 http://www.orpha.net/ORDO/Orphanet_312 Epidermolytic ichthyosis 'Epidermolytic ichthyosis' SubClassOf 'Keratinopathic ichthyosis' 'Epidermolytic ichthyosis' SubClassOf 'Keratinopathic ichthyosis' http://www.ebi.ac.uk/efo/EFO_0004640 haptoglobin measurement 'haptoglobin measurement' SubClassOf ('is_about' some 'Peptic ulcer') or ('is_about' some 'ulcerative colitis') or ('is_about' some 'liver disease') or ('is_about' some 'hemolytic anemia') 'haptoglobin measurement' SubClassOf 'is_about' some 'blood component' http://www.ebi.ac.uk/efo/EFO_0004643 obsolete_coronory artery calcification 'obsolete_coronory artery calcification' SubClassOf 'obsolete class' 'obsolete_coronory artery calcification' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004644 TPE interval measurement 'TPE interval measurement' SubClassOf 'is_about' some 'cardiovascular system' 'TPE interval measurement' SubClassOf 'is_about' some 'cardiac arrhythmia' http://www.ebi.ac.uk/efo/EFO_0004641 white matter integrity 'white matter integrity' SubClassOf 'is_about' some 'brain' http://www.ebi.ac.uk/efo/EFO_0004642 cortisol secretion measurement 'cortisol secretion measurement' SubClassOf 'is_about' some 'mental or behavioural disorder' 'cortisol secretion measurement' SubClassOf 'is_about' some 'steroid hormone' 'cortisol secretion measurement' SubClassOf 'is_about' some 'endocrine system disease' http://www.orpha.net/ORDO/Orphanet_206549 Autosomal recessive limb-girdle muscular dystrophy type 2L 'Autosomal recessive limb-girdle muscular dystrophy type 2L' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' 'Autosomal recessive limb-girdle muscular dystrophy type 2L' SubClassOf 'Qualitative or quantitative defects of fukutin' 'Autosomal recessive limb-girdle muscular dystrophy type 2L' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' 'Autosomal recessive limb-girdle muscular dystrophy type 2L' SubClassOf 'Qualitative or quantitative defects of fukutin' http://purl.obolibrary.org/obo/HP_0001182 Tapered finger 'Tapered finger' SubClassOf 'abnormality of the skeletal system' 'Tapered finger' SubClassOf 'abnormality of the skeletal system' http://www.orpha.net/ORDO/Orphanet_309 Familial partial epilepsy 'Familial partial epilepsy' SubClassOf 'Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes' 'Familial partial epilepsy' SubClassOf 'Childhood-onset epilepsy syndrome' 'Familial partial epilepsy' SubClassOf 'Adolescent-onset epilepsy syndrome' 'Familial partial epilepsy' SubClassOf 'Channelopathy with epilepsy' 'Familial partial epilepsy' SubClassOf 'Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes' 'Familial partial epilepsy' SubClassOf 'Childhood-onset epilepsy syndrome' 'Familial partial epilepsy' EquivalentTo 'partial epilepsy' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) 'Familial partial epilepsy' SubClassOf 'partial epilepsy' 'Familial partial epilepsy' SubClassOf 'Adolescent-onset epilepsy syndrome' 'Familial partial epilepsy' SubClassOf 'Channelopathy with epilepsy' http://www.orpha.net/ORDO/Orphanet_308 Unverricht-Lundborg disease 'Unverricht-Lundborg disease' SubClassOf 'Progressive myoclonic epilepsy' 'Unverricht-Lundborg disease' SubClassOf 'Progressive epilepsy and/or ataxia with myoclonus as a major feature' 'Unverricht-Lundborg disease' SubClassOf 'Progressive myoclonic epilepsy' 'Unverricht-Lundborg disease' SubClassOf 'Progressive epilepsy and/or ataxia with myoclonus as a major feature' http://www.orpha.net/ORDO/Orphanet_307 Juvenile myoclonic epilepsy 'Juvenile myoclonic epilepsy' SubClassOf 'Non progressive epilepsy and/or ataxia with myoclonus as a major feature' 'Juvenile myoclonic epilepsy' SubClassOf 'Familial partial epilepsy' 'Juvenile myoclonic epilepsy' SubClassOf 'Non progressive epilepsy and/or ataxia with myoclonus as a major feature' 'Juvenile myoclonic epilepsy' SubClassOf 'Familial partial epilepsy' 'Juvenile myoclonic epilepsy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000414 'Juvenile myoclonic epilepsy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000415 'Juvenile myoclonic epilepsy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100030 http://www.orpha.net/ORDO/Orphanet_306 Benign familial infantile epilepsy 'Benign familial infantile epilepsy' SubClassOf 'Benign partial infantile seizures' 'Benign familial infantile epilepsy' SubClassOf 'Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes' 'Benign familial infantile epilepsy' SubClassOf 'Benign partial infantile seizures' 'Benign familial infantile epilepsy' SubClassOf 'Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes' 'Benign familial infantile epilepsy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000413 http://www.orpha.net/ORDO/Orphanet_231512 Hermansky-Pudlak syndrome without pulmonary fibrosis 'Hermansky-Pudlak syndrome without pulmonary fibrosis' SubClassOf 'Hermansky-Pudlak syndrome' 'Hermansky-Pudlak syndrome without pulmonary fibrosis' SubClassOf 'Hermansky-Pudlak syndrome' http://www.orpha.net/ORDO/Orphanet_327 Congenital factor VII deficiency 'Congenital factor VII deficiency' SubClassOf 'Congenital vitamin K-dependent coagulation factors deficiency' 'Congenital factor VII deficiency' SubClassOf 'Congenital vitamin K-dependent coagulation factors deficiency' 'Congenital factor VII deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002244 http://www.orpha.net/ORDO/Orphanet_326 Congenital factor V deficiency 'Congenital factor V deficiency' SubClassOf 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' 'Congenital factor V deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020586 'Congenital factor V deficiency' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0020586 and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) 'Congenital factor V deficiency' SubClassOf 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' http://www.orpha.net/ORDO/Orphanet_325 Congenital factor II deficiency 'Congenital factor II deficiency' SubClassOf 'Congenital vitamin K-dependent coagulation factors deficiency' 'Congenital factor II deficiency' SubClassOf 'Congenital vitamin K-dependent coagulation factors deficiency' 'Congenital factor II deficiency' SubClassOf 'autosomal recessive disease' 'Congenital factor II deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024307 'Congenital factor II deficiency' SubClassOf 'Rare genetic coagulation disorder' 'Congenital factor II deficiency' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0024307 and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) http://www.orpha.net/ORDO/Orphanet_324 Fabry disease 'Fabry disease' SubClassOf 'Syndromic lymphedema' 'Fabry disease' SubClassOf 'Cataract associated with a metabolic disease' 'Fabry disease' SubClassOf 'Sphingolipidosis' 'Fabry disease' SubClassOf 'Lysosomal disease with hypertrophic cardiomyopathy' 'Fabry disease' SubClassOf 'Metabolic disease with corneal opacity' 'Fabry disease' SubClassOf 'Developmental anomaly of metabolic origin' 'Fabry disease' SubClassOf 'Rare hereditary metabolic disease with peripheral neuropathy' 'Fabry disease' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'Fabry disease' SubClassOf 'Lysosomal disease with restrictive cardiomyopathy' 'Fabry disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019293 'Fabry disease' SubClassOf 'Lysosomal disease with hypertrophic cardiomyopathy' 'Fabry disease' SubClassOf 'Rare syndromic dyslipidemia' 'Fabry disease' SubClassOf 'Metabolic disease with corneal opacity' 'Fabry disease' SubClassOf 'Rare hereditary metabolic disease with peripheral neuropathy' 'Fabry disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018299 'Fabry disease' SubClassOf 'Syndromic lymphedema' 'Fabry disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0009332 'Fabry disease' SubClassOf 'Cataract associated with a metabolic disease' 'Fabry disease' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'Fabry disease' SubClassOf 'Developmental anomaly of metabolic origin' 'Fabry disease' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'Fabry disease' SubClassOf 'Lysosomal disease with restrictive cardiomyopathy' 'Fabry disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Fabry disease' SubClassOf 'Milroy disease' 'Fabry disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044976 http://www.ebi.ac.uk/efo/EFO_0003341 obsolete_ventral thoracic disc 'obsolete_ventral thoracic disc' SubClassOf 'obsolete class' 'obsolete_ventral thoracic disc' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004672 obsolete_response to gemcitabine 'obsolete_response to gemcitabine' SubClassOf 'obsolete class' 'obsolete_response to gemcitabine' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003342 obsolete_hindgut anlage 'obsolete_hindgut anlage' SubClassOf 'obsolete class' 'obsolete_hindgut anlage' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004673 obsolete_response to lapatinib 'obsolete_response to lapatinib' SubClassOf 'obsolete class' 'obsolete_response to lapatinib' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_322 Exstrophy-epispadias complex 'Exstrophy-epispadias complex' SubClassOf 'Genetic renal or urinary tract malformation' 'Exstrophy-epispadias complex' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015619 'Exstrophy-epispadias complex' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020021 'Exstrophy-epispadias complex' SubClassOf 'Genetic urogenital tract malformation' 'Exstrophy-epispadias complex' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015215 http://www.ebi.ac.uk/efo/EFO_0004670 beta-amyloid 1-42 measurement 'beta-amyloid 1-42 measurement' SubClassOf 'is_about' some 'cerebrospinal fluid' 'beta-amyloid 1-42 measurement' SubClassOf 'is_about' some 'protein' 'beta-amyloid 1-42 measurement' SubClassOf 'is_about' some 'Alzheimer's disease' http://www.orpha.net/ORDO/Orphanet_206554 Autosomal recessive limb-girdle muscular dystrophy type 2M 'Autosomal recessive limb-girdle muscular dystrophy type 2M' SubClassOf 'Disorder of O-mannosylglycan synthesis' 'Autosomal recessive limb-girdle muscular dystrophy type 2M' SubClassOf 'Neuromuscular disease with dilated cardiomyopathy' 'Autosomal recessive limb-girdle muscular dystrophy type 2M' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' 'Autosomal recessive limb-girdle muscular dystrophy type 2M' SubClassOf 'Congenital disorder of glycosylation with dilated cardiomyopathy' 'Autosomal recessive limb-girdle muscular dystrophy type 2M' SubClassOf 'Qualitative or quantitative defects of fukutin' 'Autosomal recessive limb-girdle muscular dystrophy type 2M' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 'Autosomal recessive limb-girdle muscular dystrophy type 2M' SubClassOf 'Disorder of O-mannosylglycan synthesis' 'Autosomal recessive limb-girdle muscular dystrophy type 2M' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Autosomal recessive limb-girdle muscular dystrophy type 2M' SubClassOf 'Neuromuscular disease with dilated cardiomyopathy' 'Autosomal recessive limb-girdle muscular dystrophy type 2M' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' 'Autosomal recessive limb-girdle muscular dystrophy type 2M' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000173 'Autosomal recessive limb-girdle muscular dystrophy type 2M' SubClassOf 'Congenital disorder of glycosylation with dilated cardiomyopathy' 'Autosomal recessive limb-girdle muscular dystrophy type 2M' SubClassOf 'Qualitative or quantitative defects of fukutin' 'Autosomal recessive limb-girdle muscular dystrophy type 2M' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' http://www.orpha.net/ORDO/Orphanet_321 Multiple osteochondromas 'Multiple osteochondromas' SubClassOf 'Congenital disorder of glycosylation-related bone disorder' 'Multiple osteochondromas' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'Multiple osteochondromas' SubClassOf 'Disorder of O-xylosylglycan synthesis' 'Multiple osteochondromas' SubClassOf 'Congenital disorder of glycosylation-related bone disorder' 'Multiple osteochondromas' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'Multiple osteochondromas' SubClassOf 'Inherited cancer-predisposing syndrome' 'Multiple osteochondromas' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002181 'Multiple osteochondromas' SubClassOf 'Disorder of O-xylosylglycan synthesis' 'Multiple osteochondromas' SubClassOf 'bone neoplasm' http://www.orpha.net/ORDO/Orphanet_90 Argininemia 'Argininemia' SubClassOf 'Disorder of urea cycle metabolism and ammonia detoxification' 'Argininemia' SubClassOf 'Disorder of urea cycle metabolism and ammonia detoxification' http://www.ebi.ac.uk/efo/EFO_0003340 obsolete_posterior endoderm anlage 'obsolete_posterior endoderm anlage' SubClassOf 'obsolete class' 'obsolete_posterior endoderm anlage' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_320 Apparent mineralocorticoid excess 'Apparent mineralocorticoid excess' SubClassOf 'Genetic hypertension' 'Apparent mineralocorticoid excess' SubClassOf 'adrenal gland disease' 'Apparent mineralocorticoid excess' SubClassOf 'Genetic hypertension' http://www.orpha.net/ORDO/Orphanet_91 Aromatase deficiency 'Aromatase deficiency' SubClassOf 'Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin' 'Aromatase deficiency' SubClassOf '46,XX disorder of sex development induced by fetoplacental androgens excess' 'Aromatase deficiency' SubClassOf 'Non-acquired premature ovarian failure' 'Aromatase deficiency' SubClassOf 'Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin' 'Aromatase deficiency' SubClassOf 'pregnancy disorder' 'Aromatase deficiency' SubClassOf 'Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin' 'Aromatase deficiency' SubClassOf '46,XX disorder of sex development induced by fetoplacental androgens excess' 'Aromatase deficiency' SubClassOf 'Non-acquired premature ovarian failure' 'Aromatase deficiency' SubClassOf 'Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin' http://www.ebi.ac.uk/efo/EFO_0003345 obsolete_foregut anlage 'obsolete_foregut anlage' SubClassOf 'obsolete class' 'obsolete_foregut anlage' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004676 obsolete_response to diruetic 'obsolete_response to diruetic' SubClassOf 'obsolete class' 'obsolete_response to diruetic' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002012 organization role 'organization role' EquivalentTo 'inheres_in' some 'organization' http://www.ebi.ac.uk/efo/EFO_0003346 obsolete_visual anlage 'obsolete_visual anlage' SubClassOf 'obsolete class' 'obsolete_visual anlage' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004677 obsolete_response to anticonvulsant 'obsolete_response to anticonvulsant' SubClassOf 'obsolete class' 'obsolete_response to anticonvulsant' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003343 obsolete_ventral ectoderm anlage 'obsolete_ventral ectoderm anlage' SubClassOf 'obsolete class' 'obsolete_ventral ectoderm anlage' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003344 obsolete_tracheal primordium 'obsolete_tracheal primordium' SubClassOf 'obsolete class' 'obsolete_tracheal primordium' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004675 obsolete_response to antidepressant 'obsolete_response to antidepressant' SubClassOf 'obsolete class' 'obsolete_response to antidepressant' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003349 obsolete_visceral muscle primordium 'obsolete_visceral muscle primordium' SubClassOf 'obsolete class' 'obsolete_visceral muscle primordium' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_206559 Autosomal recessive limb-girdle muscular dystrophy type 2N 'Autosomal recessive limb-girdle muscular dystrophy type 2N' SubClassOf 'Disorder of O-mannosylglycan synthesis' 'Autosomal recessive limb-girdle muscular dystrophy type 2N' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'Autosomal recessive limb-girdle muscular dystrophy type 2N' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' 'Autosomal recessive limb-girdle muscular dystrophy type 2N' SubClassOf 'Qualitative or quantitative defects of protein O-mannosyltransferase 2' 'Autosomal recessive limb-girdle muscular dystrophy type 2N' SubClassOf 'Disorder of O-mannosylglycan synthesis' 'Autosomal recessive limb-girdle muscular dystrophy type 2N' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'Autosomal recessive limb-girdle muscular dystrophy type 2N' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000173 'Autosomal recessive limb-girdle muscular dystrophy type 2N' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' 'Autosomal recessive limb-girdle muscular dystrophy type 2N' SubClassOf 'Qualitative or quantitative defects of protein O-mannosyltransferase 2' http://www.ebi.ac.uk/efo/EFO_0003347 obsolete_hypopharynx anlage 'obsolete_hypopharynx anlage' SubClassOf 'obsolete class' 'obsolete_hypopharynx anlage' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004678 obsolete_response to statin 'obsolete_response to statin' SubClassOf 'obsolete class' 'obsolete_response to statin' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003348 obsolete_pericardial cell primordium 'obsolete_pericardial cell primordium' SubClassOf 'obsolete class' 'obsolete_pericardial cell primordium' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004679 obsolete_response to glucocorticoid 'obsolete_response to glucocorticoid' SubClassOf 'obsolete class' 'obsolete_response to glucocorticoid' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93 Aspartylglucosaminuria 'Aspartylglucosaminuria' SubClassOf 'Lysosomal storage disease with skeletal involvement' 'Aspartylglucosaminuria' SubClassOf 'Oligosaccharidosis' 'Aspartylglucosaminuria' SubClassOf 'Neurometabolic disease' 'Aspartylglucosaminuria' SubClassOf 'Lysosomal storage disease with skeletal involvement' 'Aspartylglucosaminuria' SubClassOf 'Oligosaccharidosis' 'Aspartylglucosaminuria' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016397 'Aspartylglucosaminuria' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Aspartylglucosaminuria' SubClassOf 'Neurometabolic disease' http://www.orpha.net/ORDO/Orphanet_95 Friedreich ataxia 'Friedreich ataxia' SubClassOf 'Cerebellar ataxia with peripheral neuropathy' 'Friedreich ataxia' SubClassOf 'Spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly' 'Friedreich ataxia' SubClassOf 'Neurometabolic disease' 'Friedreich ataxia' SubClassOf 'Autosomal recessive degenerative and progressive cerebellar ataxia' 'Friedreich ataxia' SubClassOf 'Syndrome associated with hypertrophic cardiomyopathy' 'Friedreich ataxia' SubClassOf 'Spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly' 'Friedreich ataxia' SubClassOf 'Cerebellar ataxia with peripheral neuropathy' 'Friedreich ataxia' SubClassOf 'Neurometabolic disease' 'Friedreich ataxia' SubClassOf 'Autosomal recessive degenerative and progressive cerebellar ataxia' http://www.orpha.net/ORDO/Orphanet_96 Ataxia with vitamin E deficiency 'Ataxia with vitamin E deficiency' SubClassOf 'Metabolic disease with pigmentary retinitis' 'Ataxia with vitamin E deficiency' SubClassOf 'Disorder of other vitamins and cofactors metabolism and transport' 'Ataxia with vitamin E deficiency' SubClassOf 'Rare hereditary metabolic disease with peripheral neuropathy' 'Ataxia with vitamin E deficiency' SubClassOf 'Neurometabolic disease' 'Ataxia with vitamin E deficiency' SubClassOf 'Autosomal recessive metabolic cerebellar ataxia' 'Ataxia with vitamin E deficiency' SubClassOf 'vitamin metabolic disorder' 'Ataxia with vitamin E deficiency' SubClassOf 'Metabolic disease with pigmentary retinitis' 'Ataxia with vitamin E deficiency' SubClassOf 'Metabolic disease with dementia' 'Ataxia with vitamin E deficiency' SubClassOf 'Disorder of other vitamins and cofactors metabolism and transport' 'Ataxia with vitamin E deficiency' SubClassOf 'Rare hereditary metabolic disease with peripheral neuropathy' 'Ataxia with vitamin E deficiency' SubClassOf 'Developmental anomaly of metabolic origin' 'Ataxia with vitamin E deficiency' SubClassOf 'Neurometabolic disease' 'Ataxia with vitamin E deficiency' SubClassOf 'Autosomal recessive metabolic cerebellar ataxia' http://www.orpha.net/ORDO/Orphanet_97 Familial paroxysmal ataxia 'Familial paroxysmal ataxia' SubClassOf 'Hereditary episodic ataxia' 'Familial paroxysmal ataxia' SubClassOf 'Hereditary episodic ataxia' http://www.orpha.net/ORDO/Orphanet_98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay 'Autosomal recessive spastic ataxia of Charlevoix-Saguenay' SubClassOf 'Autosomal recessive spastic ataxia' 'Autosomal recessive spastic ataxia of Charlevoix-Saguenay' SubClassOf 'Autosomal recessive spastic ataxia' http://www.orpha.net/ORDO/Orphanet_99 Autosomal dominant cerebellar ataxia 'Autosomal dominant cerebellar ataxia' SubClassOf 'Late-onset ataxia with dementia' 'Autosomal dominant cerebellar ataxia' SubClassOf 'Spinocerebellar ataxia with oculomotor anomaly' 'Autosomal dominant cerebellar ataxia' SubClassOf 'Late-onset ataxia with dementia' 'Autosomal dominant cerebellar ataxia' SubClassOf 'Spinocerebellar ataxia with oculomotor anomaly' 'Autosomal dominant cerebellar ataxia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 'Autosomal dominant cerebellar ataxia' SubClassOf 'hereditary ataxia' 'Autosomal dominant cerebellar ataxia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004884 'Autosomal dominant cerebellar ataxia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0022687 http://www.orpha.net/ORDO/Orphanet_317 Erythrokeratodermia variabilis 'Erythrokeratodermia variabilis' SubClassOf 'Inherited non-syndromic ichthyosis' 'Erythrokeratodermia variabilis' SubClassOf 'Erythrokeratoderma variabilis progressiva' 'Erythrokeratodermia variabilis' SubClassOf 'Inherited non-syndromic ichthyosis' 'Erythrokeratodermia variabilis' SubClassOf 'Autosomal dominant isolated diffuse palmoplantar keratoderma' 'Erythrokeratodermia variabilis' SubClassOf 'Erythrokeratoderma variabilis progressiva' 'Erythrokeratodermia variabilis' SubClassOf 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' http://www.orpha.net/ORDO/Orphanet_338 Familial multiple fibrofolliculoma 'Familial multiple fibrofolliculoma' SubClassOf 'Genetic skin tumor' 'Familial multiple fibrofolliculoma' SubClassOf 'Genetic skin tumor' http://www.orpha.net/ORDO/Orphanet_231500 Hermansky-Pudlak syndrome with pulmonary fibrosis 'Hermansky-Pudlak syndrome with pulmonary fibrosis' SubClassOf 'Hermansky-Pudlak syndrome' 'Hermansky-Pudlak syndrome with pulmonary fibrosis' SubClassOf 'Hermansky-Pudlak syndrome' 'Hermansky-Pudlak syndrome with pulmonary fibrosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017024 http://www.orpha.net/ORDO/Orphanet_337 Fibrodysplasia ossificans progressiva 'Fibrodysplasia ossificans progressiva' SubClassOf 'Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments' 'Fibrodysplasia ossificans progressiva' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 'Fibrodysplasia ossificans progressiva' SubClassOf 'Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments' 'Fibrodysplasia ossificans progressiva' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 'Fibrodysplasia ossificans progressiva' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019296 http://www.orpha.net/ORDO/Orphanet_335 Congenital fibrinogen deficiency 'Congenital fibrinogen deficiency' SubClassOf 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' 'Congenital fibrinogen deficiency' SubClassOf 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' http://www.ebi.ac.uk/efo/EFO_0004661 obsolete_response to flurouracil 'obsolete_response to flurouracil' SubClassOf 'obsolete class' 'obsolete_response to flurouracil' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_334 Familial atrial fibrillation 'Familial atrial fibrillation' SubClassOf 'Genetic cardiac rhythm disease' 'Familial atrial fibrillation' SubClassOf 'atrial fibrillation' 'Familial atrial fibrillation' SubClassOf 'Genetic cardiac rhythm disease' 'Familial atrial fibrillation' EquivalentTo 'atrial fibrillation' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) http://www.orpha.net/ORDO/Orphanet_333 Farber lipogranulomatosis 'Farber lipogranulomatosis' SubClassOf 'Neurometabolic disease' 'Farber lipogranulomatosis' SubClassOf 'Sphingolipidosis' 'Farber lipogranulomatosis' SubClassOf 'Unclassified primitive or secondary maculopathy' 'Farber lipogranulomatosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 'Farber lipogranulomatosis' SubClassOf 'Neurometabolic disease' 'Farber lipogranulomatosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019296 'Farber lipogranulomatosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018299 'Farber lipogranulomatosis' SubClassOf 'Unclassified primitive or secondary maculopathy' http://www.orpha.net/ORDO/Orphanet_332 Congenital intrinsic factor deficiency 'Congenital intrinsic factor deficiency' SubClassOf 'Disorder of cobalamin metabolism and transport' 'Congenital intrinsic factor deficiency' SubClassOf 'Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder' 'Congenital intrinsic factor deficiency' SubClassOf 'Disorder of cobalamin metabolism and transport' 'Congenital intrinsic factor deficiency' SubClassOf 'Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder' http://www.orpha.net/ORDO/Orphanet_206564 Autosomal recessive limb-girdle muscular dystrophy type 2O 'Autosomal recessive limb-girdle muscular dystrophy type 2O' SubClassOf 'Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase' 'Autosomal recessive limb-girdle muscular dystrophy type 2O' SubClassOf 'Disorder of O-mannosylglycan synthesis' 'Autosomal recessive limb-girdle muscular dystrophy type 2O' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 'Autosomal recessive limb-girdle muscular dystrophy type 2O' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' 'Autosomal recessive limb-girdle muscular dystrophy type 2O' SubClassOf 'Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase' 'Autosomal recessive limb-girdle muscular dystrophy type 2O' SubClassOf 'Disorder of O-mannosylglycan synthesis' 'Autosomal recessive limb-girdle muscular dystrophy type 2O' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000173 'Autosomal recessive limb-girdle muscular dystrophy type 2O' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 'Autosomal recessive limb-girdle muscular dystrophy type 2O' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' http://www.orpha.net/ORDO/Orphanet_331 Congenital factor XIII deficiency 'Congenital factor XIII deficiency' SubClassOf 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' 'Congenital factor XIII deficiency' SubClassOf 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' 'Congenital factor XIII deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002241 http://www.orpha.net/ORDO/Orphanet_330 Congenital factor XII deficiency 'Congenital factor XII deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002242 'Congenital factor XII deficiency' SubClassOf 'Rare thrombotic disorder due to a constitutional coagulation factors defect' 'Congenital factor XII deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002243 'Congenital factor XII deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000429 http://www.ebi.ac.uk/efo/EFO_0003338 obsolete_embryonic optic lobe primordium 'obsolete_embryonic optic lobe primordium' SubClassOf 'obsolete class' 'obsolete_embryonic optic lobe primordium' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003339 obsolete_posterior spiracle primordium 'obsolete_posterior spiracle primordium' SubClassOf 'obsolete class' 'obsolete_posterior spiracle primordium' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003336 obsolete_mesectoderm anlage 'obsolete_mesectoderm anlage' SubClassOf 'obsolete class' 'obsolete_mesectoderm anlage' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003337 obsolete_head mesoderm 'obsolete_head mesoderm' SubClassOf 'obsolete class' 'obsolete_head mesoderm' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002009 fibroblast derived cell line 'fibroblast derived cell line' EquivalentTo 'derives_from' some ('fibroblast' and ('part_of' some (('developmental stage' or 'organism part') and ('part_of' some 'organism')))) http://www.orpha.net/ORDO/Orphanet_329 Congenital factor XI deficiency 'Congenital factor XI deficiency' SubClassOf 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' 'Congenital factor XI deficiency' SubClassOf 'Rare genetic coagulation disorder' 'Congenital factor XI deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000429 'Congenital factor XI deficiency' SubClassOf 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' 'Congenital factor XI deficiency' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0020587 and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) 'Congenital factor XI deficiency' SubClassOf 'Hemophilia' http://www.orpha.net/ORDO/Orphanet_328 Congenital factor X deficiency 'Congenital factor X deficiency' SubClassOf 'Congenital vitamin K-dependent coagulation factors deficiency' 'Congenital factor X deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002247 'Congenital factor X deficiency' SubClassOf 'Congenital vitamin K-dependent coagulation factors deficiency' http://purl.obolibrary.org/obo/UBERON_0001989 superior cervical ganglion 'superior cervical ganglion' SubClassOf 'ganglion' 'superior cervical ganglion' SubClassOf 'part_of' some 'trunk' 'superior cervical ganglion' SubClassOf 'part_of' some 'sympathetic nervous system' 'superior cervical ganglion' SubClassOf http://purl.obolibrary.org/obo/UBERON_0001991 'superior cervical ganglion' SubClassOf 'develops_from' some 'presumptive neural plate' http://www.ebi.ac.uk/efo/EFO_0004690 obsolete_short QT syndrome 'obsolete_short QT syndrome' SubClassOf 'obsolete class' 'obsolete_short QT syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93604 Antenatal Bartter syndrome 'Antenatal Bartter syndrome' SubClassOf 'Bartter syndrome' 'Antenatal Bartter syndrome' SubClassOf 'Bartter syndrome' http://www.ebi.ac.uk/efo/EFO_0003360 obsolete_ventral imaginal precursor 'obsolete_ventral imaginal precursor' SubClassOf 'obsolete class' 'obsolete_ventral imaginal precursor' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004691 obsolete_Brugada syndrome 'obsolete_Brugada syndrome' SubClassOf 'obsolete class' 'obsolete_Brugada syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_363654 X-linked parkinsonism-spasticity syndrome 'X-linked parkinsonism-spasticity syndrome' SubClassOf 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' 'X-linked parkinsonism-spasticity syndrome' SubClassOf 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_93602 Xanthinuria type II 'Xanthinuria type II' SubClassOf 'Hereditary xanthinuria' 'Xanthinuria type II' SubClassOf 'Hereditary xanthinuria' http://www.orpha.net/ORDO/Orphanet_93601 Xanthinuria type I 'Xanthinuria type I' SubClassOf 'Hereditary xanthinuria' 'Xanthinuria type I' SubClassOf 'Hereditary xanthinuria' http://www.ebi.ac.uk/efo/EFO_0003363 obsolete_amnioserosa primordium 'obsolete_amnioserosa primordium' SubClassOf 'obsolete class' 'obsolete_amnioserosa primordium' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004694 factor XI measurement 'factor XI measurement' SubClassOf 'is_about' some 'protein' 'factor XI measurement' SubClassOf 'is_about' some 'blood component' 'factor XI measurement' SubClassOf 'is_about' some 'enzyme' http://www.orpha.net/ORDO/Orphanet_93600 Primary hyperoxaluria type 3 'Primary hyperoxaluria type 3' SubClassOf 'Primary hyperoxaluria' 'Primary hyperoxaluria type 3' SubClassOf 'Primary hyperoxaluria' http://purl.obolibrary.org/obo/UBERON_0001986 endothelium 'endothelium' SubClassOf 'animal component' 'endothelium' SubClassOf http://purl.obolibrary.org/obo/UBERON_0000487 'endothelium' SubClassOf http://purl.obolibrary.org/obo/UBERON_0012275 http://www.ebi.ac.uk/efo/EFO_0003364 obsolete_visceral branch primordium 'obsolete_visceral branch primordium' SubClassOf 'obsolete class' 'obsolete_visceral branch primordium' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004695 intraocular pressure measurement 'intraocular pressure measurement' SubClassOf 'is_about' some 'glaucoma' 'intraocular pressure measurement' SubClassOf 'is_about' some 'eye' http://purl.obolibrary.org/obo/UBERON_0001987 placenta 'placenta' SubClassOf 'develops_from' some 'yolk sac' 'placenta' SubClassOf 'part_of' some 'female reproductive system' 'placenta' SubClassOf 'develops_from' some 'chorion' 'placenta' SubClassOf 'develops_from' some 'uterus' http://www.ebi.ac.uk/efo/EFO_0002033 Ara-C-sensitive parental cell line 'Ara-C-sensitive parental cell line' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Mus musculus')))) http://www.ebi.ac.uk/efo/EFO_0003361 obsolete_head visceral muscle primordium 'obsolete_head visceral muscle primordium' SubClassOf 'obsolete class' 'obsolete_head visceral muscle primordium' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004692 obsolete_Catecholaminergic polymorphic ventricular tachycardia 'obsolete_Catecholaminergic polymorphic ventricular tachycardia' SubClassOf 'obsolete class' 'obsolete_Catecholaminergic polymorphic ventricular tachycardia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002032 Ara-C-resistant murine leukemia 'Ara-C-resistant murine leukemia' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Mus musculus')))) http://www.ebi.ac.uk/efo/EFO_0003362 obsolete_central brain anlage 'obsolete_central brain anlage' SubClassOf 'obsolete class' 'obsolete_central brain anlage' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004693 obsolete_fetal hemoglobin measurement 'obsolete_fetal hemoglobin measurement' SubClassOf 'obsolete class' 'obsolete_fetal hemoglobin measurement' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002035 murine neuroblastoma cholinergic cell line 'murine neuroblastoma cholinergic cell line' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Mus musculus')))) http://www.ebi.ac.uk/efo/EFO_0003367 obsolete_oenocyte primordium 'obsolete_oenocyte primordium' SubClassOf 'obsolete class' 'obsolete_oenocyte primordium' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004698 insomnia 'insomnia' SubClassOf 'Sleep Disorder' 'insomnia' SubClassOf 'Sleep Disorder' 'insomnia' SubClassOf 'has_disease_location' some 'brain' 'insomnia' SubClassOf 'mental or behavioural disorder' http://www.ebi.ac.uk/efo/EFO_0002034 G1E 'G1E' SubClassOf 'derives_from' some ('stem cell' and ('part_of' some ('organism part' and ('part_of' some 'Mus musculus')))) http://www.ebi.ac.uk/efo/EFO_0003368 obsolete_hindgut proper primordium 'obsolete_hindgut proper primordium' SubClassOf 'obsolete class' 'obsolete_hindgut proper primordium' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002037 4T1 '4T1' SubClassOf 'bearer_of' some 'breast carcinoma' '4T1' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Mus musculus')))) http://www.ebi.ac.uk/efo/EFO_0003365 obsolete_longitudinal visceral muscle primordium 'obsolete_longitudinal visceral muscle primordium' SubClassOf 'obsolete class' 'obsolete_longitudinal visceral muscle primordium' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004696 sex hormone-binding globulin measurement 'sex hormone-binding globulin measurement' SubClassOf 'is_about' some 'sex hormone' 'sex hormone-binding globulin measurement' SubClassOf 'is_about' some 'sex hormone-binding globulin' 'sex hormone-binding globulin measurement' SubClassOf 'is_about' some 'polycystic ovary syndrome' http://www.ebi.ac.uk/efo/EFO_0003366 obsolete_primary segmental branch primordium 'obsolete_primary segmental branch primordium' SubClassOf 'obsolete class' 'obsolete_primary segmental branch primordium' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004697 estradiol measurement 'estradiol measurement' SubClassOf 'is_about' some 'sex hormone' http://www.ebi.ac.uk/efo/EFO_0002039 67NR '67NR' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Mus musculus')))) '67NR' SubClassOf 'bearer_of' some 'breast carcinoma' http://www.orpha.net/ORDO/Orphanet_93608 Autosomal dominant distal renal tubular acidosis 'Autosomal dominant distal renal tubular acidosis' SubClassOf 'Distal renal tubular acidosis' 'Autosomal dominant distal renal tubular acidosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 'Autosomal dominant distal renal tubular acidosis' SubClassOf 'Distal renal tubular acidosis' http://www.ebi.ac.uk/efo/EFO_0002038 66cl4 '66cl4' SubClassOf 'bearer_of' some 'breast carcinoma' '66cl4' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Mus musculus')))) http://www.orpha.net/ORDO/Orphanet_93607 Autosomal recessive proximal renal tubular acidosis 'Autosomal recessive proximal renal tubular acidosis' SubClassOf 'Proximal renal tubular acidosis' 'Autosomal recessive proximal renal tubular acidosis' SubClassOf 'Proximal renal tubular acidosis' 'Autosomal recessive proximal renal tubular acidosis' SubClassOf 'autosomal recessive disease' http://www.ebi.ac.uk/efo/EFO_0003369 obsolete_Malpighian tubule primordium 'obsolete_Malpighian tubule primordium' SubClassOf 'obsolete class' 'obsolete_Malpighian tubule primordium' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93606 Nephrogenic syndrome of inappropriate antidiuresis 'Nephrogenic syndrome of inappropriate antidiuresis' SubClassOf 'Genetic renal tubular disease' 'Nephrogenic syndrome of inappropriate antidiuresis' SubClassOf 'Genetic renal tubular disease' 'Nephrogenic syndrome of inappropriate antidiuresis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019744 http://www.orpha.net/ORDO/Orphanet_79305 Progressive familial intrahepatic cholestasis type 3 'Progressive familial intrahepatic cholestasis type 3' SubClassOf 'Progressive familial intrahepatic cholestasis' 'Progressive familial intrahepatic cholestasis type 3' SubClassOf 'Progressive familial intrahepatic cholestasis' http://www.orpha.net/ORDO/Orphanet_79304 Progressive familial intrahepatic cholestasis type 2 'Progressive familial intrahepatic cholestasis type 2' SubClassOf 'Progressive familial intrahepatic cholestasis' 'Progressive familial intrahepatic cholestasis type 2' SubClassOf 'Progressive familial intrahepatic cholestasis' 'Progressive familial intrahepatic cholestasis type 2' SubClassOf 'Benign recurrent intrahepatic cholestasis type 2' http://www.orpha.net/ORDO/Orphanet_79306 Progressive familial intrahepatic cholestasis type 1 'Progressive familial intrahepatic cholestasis type 1' SubClassOf 'Progressive familial intrahepatic cholestasis' 'Progressive familial intrahepatic cholestasis type 1' SubClassOf 'Progressive familial intrahepatic cholestasis' http://www.orpha.net/ORDO/Orphanet_79301 Congenital bile acid synthesis defect type 1 'Congenital bile acid synthesis defect type 1' SubClassOf 'Congenital bile acid synthesis defect' 'Congenital bile acid synthesis defect type 1' SubClassOf 'Congenital bile acid synthesis defect' http://www.orpha.net/ORDO/Orphanet_79303 Congenital bile acid synthesis defect type 2 'Congenital bile acid synthesis defect type 2' SubClassOf 'Congenital bile acid synthesis defect' 'Congenital bile acid synthesis defect type 2' SubClassOf 'Congenital bile acid synthesis defect' http://www.orpha.net/ORDO/Orphanet_79302 Congenital bile acid synthesis defect type 3 'Congenital bile acid synthesis defect type 3' SubClassOf 'Congenital bile acid synthesis defect' 'Congenital bile acid synthesis defect type 3' SubClassOf 'Congenital bile acid synthesis defect' http://purl.obolibrary.org/obo/UBERON_0001981 blood vessel 'blood vessel' SubClassOf 'animal component' 'blood vessel' SubClassOf 'develops_from' some 'mesoderm' 'lymphatic vessel' DisjointWith 'blood vessel' 'blood vessel' SubClassOf 'part_of' some 'cardiovascular system' 'blood vessel' SubClassOf 'develops_from' some 'vascular cord' 'blood vessel' SubClassOf 'vessel' http://purl.obolibrary.org/obo/UBERON_0001982 capillary 'capillary' SubClassOf 'animal component' 'capillary' SubClassOf 'blood vessel' 'capillary' SubClassOf 'part_of' some 'cardiovascular system' 'capillary' SubClassOf http://purl.obolibrary.org/obo/UBERON_0010523 http://www.orpha.net/ORDO/Orphanet_363649 Mandibular hypoplasia-deafness-progeroid syndrome 'Mandibular hypoplasia-deafness-progeroid syndrome' SubClassOf 'Premature aging' 'Mandibular hypoplasia-deafness-progeroid syndrome' SubClassOf 'Syndromic genetic deafness' 'Mandibular hypoplasia-deafness-progeroid syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 'Mandibular hypoplasia-deafness-progeroid syndrome' SubClassOf 'Premature aging' 'Mandibular hypoplasia-deafness-progeroid syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015333 'Mandibular hypoplasia-deafness-progeroid syndrome' SubClassOf 'Syndromic genetic deafness' http://www.ebi.ac.uk/efo/EFO_0004680 obsolete_response to interferon beta 'obsolete_response to interferon beta' SubClassOf 'obsolete class' 'obsolete_response to interferon beta' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93614 Hematological disorder with renal involvement 'Hematological disorder with renal involvement' SubClassOf 'kidney disease' 'Hematological disorder with renal involvement' SubClassOf 'has_disease_location' some ('hematopoietic system' or ('part_of' some 'hematopoietic system')) 'Hematological disorder with renal involvement' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://www.orpha.net/ORDO/Orphanet_363665 Acroosteolysis-keloid-like lesions-premature aging syndrome 'Acroosteolysis-keloid-like lesions-premature aging syndrome' SubClassOf 'Premature aging' 'Acroosteolysis-keloid-like lesions-premature aging syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015333 'Acroosteolysis-keloid-like lesions-premature aging syndrome' SubClassOf 'Premature aging' http://www.orpha.net/ORDO/Orphanet_93613 Cystinuria type B 'Cystinuria type B' SubClassOf 'Cystinuria' 'Cystinuria type B' SubClassOf 'Cystinuria' http://www.orpha.net/ORDO/Orphanet_93612 Cystinuria type A 'Cystinuria type A' SubClassOf 'Cystinuria' 'Cystinuria type A' SubClassOf 'Cystinuria' http://www.ebi.ac.uk/efo/EFO_0003352 obsolete_foregut primordium 'obsolete_foregut primordium' SubClassOf 'obsolete class' 'obsolete_foregut primordium' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004683 wet macular degeneration 'wet macular degeneration' SubClassOf 'age-related macular degeneration' 'wet macular degeneration' SubClassOf 'age-related macular degeneration' http://purl.obolibrary.org/obo/UBERON_0001997 olfactory epithelium 'olfactory epithelium' SubClassOf 'part_of' some 'olfactory apparatus' 'olfactory epithelium' SubClassOf 'develops_from' some 'olfactory placode' 'olfactory epithelium' SubClassOf 'part_of' some 'peripheral nervous system' 'olfactory epithelium' SubClassOf http://purl.obolibrary.org/obo/UBERON_0005384 'olfactory epithelium' SubClassOf http://purl.obolibrary.org/obo/UBERON_0006934 http://www.ebi.ac.uk/efo/EFO_0003353 obsolete_maxillary sensory complex primordium 'obsolete_maxillary sensory complex primordium' SubClassOf 'obsolete class' 'obsolete_maxillary sensory complex primordium' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004684 tumor necrosis factor-alpha measurement 'tumor necrosis factor-alpha measurement' SubClassOf 'is_about' some 'tumor necrosis factor-alpha' 'tumor necrosis factor-alpha measurement' SubClassOf 'is_about' some 'inflammatory response' http://www.orpha.net/ORDO/Orphanet_93610 Distal renal tubular acidosis with anemia 'Distal renal tubular acidosis with anemia' SubClassOf 'Distal renal tubular acidosis' 'Distal renal tubular acidosis with anemia' SubClassOf 'Rare constitutional hemolytic anemia due to a red cell membrane anomaly' 'Distal renal tubular acidosis with anemia' SubClassOf 'Distal renal tubular acidosis' 'Distal renal tubular acidosis with anemia' SubClassOf 'Rare constitutional hemolytic anemia due to a red cell membrane anomaly' http://www.ebi.ac.uk/efo/EFO_0003350 obsolete_inclusive hindgut primordium 'obsolete_inclusive hindgut primordium' SubClassOf 'obsolete class' 'obsolete_inclusive hindgut primordium' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004681 obsolete_response to lithium 'obsolete_response to lithium' SubClassOf 'obsolete class' 'obsolete_response to lithium' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003351 obsolete_gnathal primordium 'obsolete_gnathal primordium' SubClassOf 'obsolete class' 'obsolete_gnathal primordium' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004682 QT interval 'QT interval' SubClassOf 'is_about' some 'cardiovascular system' http://www.ebi.ac.uk/efo/EFO_0003356 obsolete_head mesoderm anlage 'obsolete_head mesoderm anlage' SubClassOf 'obsolete class' 'obsolete_head mesoderm anlage' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004687 obsolete_inherited arrhythmia 'obsolete_inherited arrhythmia' SubClassOf 'obsolete class' 'obsolete_inherited arrhythmia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003357 obsolete_proventriculus primordium 'obsolete_proventriculus primordium' SubClassOf 'obsolete class' 'obsolete_proventriculus primordium' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004688 obsolete_long QT syndrome 'obsolete_long QT syndrome' SubClassOf 'obsolete class' 'obsolete_long QT syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003354 obsolete_labial sensory complex primordium 'obsolete_labial sensory complex primordium' SubClassOf 'obsolete class' 'obsolete_labial sensory complex primordium' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004685 hip geometry 'hip geometry' SubClassOf 'is_about' some 'bone' http://www.ebi.ac.uk/efo/EFO_0003355 obsolete_labral sensory complex primordium 'obsolete_labral sensory complex primordium' SubClassOf 'obsolete class' 'obsolete_labral sensory complex primordium' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004686 non-compaction cardiomyopathy 'non-compaction cardiomyopathy' SubClassOf 'cardiomyopathy' 'non-compaction cardiomyopathy' SubClassOf 'cardiomyopathy' http://www.ebi.ac.uk/efo/EFO_0003358 obsolete_sensory nervous system primordium 'obsolete_sensory nervous system primordium' SubClassOf 'obsolete class' 'obsolete_sensory nervous system primordium' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004689 obsolete_Jervell and Lange-Nielsen syndrome 'obsolete_Jervell and Lange-Nielsen syndrome' SubClassOf 'obsolete class' 'obsolete_Jervell and Lange-Nielsen syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/HANCESTRO_0487 Indian 'Indian' SubClassOf 'South Asian' 'Indian' SubClassOf 'South Asian' 'Indian' SubClassOf 'isDemonymOf' some 'India' http://www.ebi.ac.uk/efo/EFO_0003359 obsolete_ventral sensory complex primordium 'obsolete_ventral sensory complex primordium' SubClassOf 'obsolete class' 'obsolete_ventral sensory complex primordium' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93616 Hemoglobin H disease 'Hemoglobin H disease' SubClassOf 'Alpha-thalassemia' 'Hemoglobin H disease' SubClassOf 'disease has feature' some http://purl.obolibrary.org/obo/MONDO_0019844 'Hemoglobin H disease' SubClassOf 'Alpha-thalassemia' http://www.orpha.net/ORDO/Orphanet_363659 20q11.2 microduplication syndrome '20q11.2 microduplication syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '20q11.2 microduplication syndrome' SubClassOf 'Partial trisomy of the long arm of chromosome 20' '20q11.2 microduplication syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '20q11.2 microduplication syndrome' SubClassOf 'Partial trisomy of the long arm of chromosome 20' '20q11.2 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 '20q11.2 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 http://www.ebi.ac.uk/efo/EFO_0003381 obsolete_salivary gland body primordium 'obsolete_salivary gland body primordium' SubClassOf 'obsolete class' 'obsolete_salivary gland body primordium' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_363677 Childhood-onset autosomal recessive myopathy with external ophthalmoplegia 'Childhood-onset autosomal recessive myopathy with external ophthalmoplegia' SubClassOf 'Myopathy with eye involvement' 'Childhood-onset autosomal recessive myopathy with external ophthalmoplegia' SubClassOf 'Inclusion myopathy' 'Childhood-onset autosomal recessive myopathy with external ophthalmoplegia' SubClassOf 'Myopathy with eye involvement' 'Childhood-onset autosomal recessive myopathy with external ophthalmoplegia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0011577 'Childhood-onset autosomal recessive myopathy with external ophthalmoplegia' SubClassOf 'Inclusion myopathy' http://www.ebi.ac.uk/efo/EFO_0003382 obsolete_somatic muscle primordium 'obsolete_somatic muscle primordium' SubClassOf 'obsolete class' 'obsolete_somatic muscle primordium' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002051 D4 glioblastoma derived primary cell line 'D4 glioblastoma derived primary cell line' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'D4 glioblastoma derived primary cell line' SubClassOf 'bearer_of' some 'glioblastoma multiforme' http://www.ebi.ac.uk/efo/EFO_0002050 BeWo 'BeWo' SubClassOf 'bearer_of' some 'choriocarcinoma' 'BeWo' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('placenta' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003380 obsolete_pars intercerebralis primordium 'obsolete_pars intercerebralis primordium' SubClassOf 'obsolete class' 'obsolete_pars intercerebralis primordium' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93623 Dent disease type 2 'Dent disease type 2' SubClassOf 'Dent disease' 'Dent disease type 2' SubClassOf 'Dent disease' http://www.ebi.ac.uk/efo/EFO_0002053 F9 mouse embryonal carcinoma cell line 'F9 mouse embryonal carcinoma cell line' SubClassOf 'bearer_of' some 'carcinoma' 'F9 mouse embryonal carcinoma cell line' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Mus musculus')))) http://www.ebi.ac.uk/efo/EFO_0003385 obsolete_stomatogastric nervous system primordium 'obsolete_stomatogastric nervous system primordium' SubClassOf 'obsolete class' 'obsolete_stomatogastric nervous system primordium' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93622 Dent disease type 1 'Dent disease type 1' SubClassOf 'Dent disease' 'Dent disease type 1' SubClassOf 'Dent disease' http://www.ebi.ac.uk/efo/EFO_0002052 EcR-RKO/KLF4 'EcR-RKO/KLF4' SubClassOf 'cancer cell line' 'EcR-RKO/KLF4' SubClassOf 'derives_from' some 'RKO' 'EcR-RKO/KLF4' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'EcR-RKO/KLF4' SubClassOf 'colorectal cancer cell line' 'EcR-RKO/KLF4' SubClassOf 'bearer_of' some 'colorectal adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0003386 obsolete_central brain primordium 'obsolete_central brain primordium' SubClassOf 'obsolete class' 'obsolete_central brain primordium' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002055 G1E-ER4 'G1E-ER4' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_0003383 obsolete_midline primordium 'obsolete_midline primordium' SubClassOf 'obsolete class' 'obsolete_midline primordium' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002054 Fu97 'Fu97' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'organism')))) 'Fu97' SubClassOf 'bearer_of' some 'gastric carcinoma' http://www.ebi.ac.uk/efo/EFO_0003384 obsolete_ventral epidermis primordium 'obsolete_ventral epidermis primordium' SubClassOf 'obsolete class' 'obsolete_ventral epidermis primordium' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002057 HCC1008 'HCC1008' SubClassOf 'cancer cell line' 'HCC1008' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('mammary gland' and ('part_of' some 'Homo sapiens')))) 'HCC1008' SubClassOf 'breast adenocarcinoma cell line' 'HCC1008' SubClassOf 'bearer_of' some 'ductal adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0003389 obsolete_embryonic hindgut 'obsolete_embryonic hindgut' SubClassOf 'obsolete class' 'obsolete_embryonic hindgut' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002056 HaCaT 'HaCaT' SubClassOf 'derives_from' some ('fibroblast' and ('part_of' some ('zone of skin' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0002059 HT1080 'HT1080' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('connective tissue' and ('part_of' some 'Homo sapiens')))) 'HT1080' SubClassOf 'bearer_of' some 'fibrosarcoma' http://www.ebi.ac.uk/efo/EFO_0003387 obsolete_ventral midline neuroblast 'obsolete_ventral midline neuroblast' SubClassOf 'obsolete class' 'obsolete_ventral midline neuroblast' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/UBERON_2005034 parachordal vessel 'parachordal vessel' SubClassOf http://purl.obolibrary.org/obo/UBERON_0003513 'parachordal vessel' SubClassOf http://purl.obolibrary.org/obo/UBERON_0003481 http://www.ebi.ac.uk/efo/EFO_0002058 obsolete_HL60 'obsolete_HL60' SubClassOf 'obsolete class' 'obsolete_HL60' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003388 obsolete_embryonic maxillary sensory complex 'obsolete_embryonic maxillary sensory complex' SubClassOf 'obsolete class' 'obsolete_embryonic maxillary sensory complex' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/HANCESTRO_0498 Filipino 'Filipino' SubClassOf 'Asian' 'Filipino' SubClassOf 'Asian' 'Filipino' SubClassOf 'isDemonymOf' some 'Philippines' http://www.ebi.ac.uk/efo/EFO_0003371 obsolete_embryonic inner optic lobe primordium 'obsolete_embryonic inner optic lobe primordium' SubClassOf 'obsolete class' 'obsolete_embryonic inner optic lobe primordium' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002040 B117H 'B117H' SubClassOf 'bearer_of' some 'leukemia' 'B117H' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_0002042 B140H 'B140H' SubClassOf 'bearer_of' some 'leukemia' 'B140H' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_0003374 obsolete_hindgut anlage in statu nascendi 'obsolete_hindgut anlage in statu nascendi' SubClassOf 'obsolete class' 'obsolete_hindgut anlage in statu nascendi' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002041 B117P 'B117P' SubClassOf 'bearer_of' some 'leukemia' 'B117P' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_0003375 obsolete_visual anlage in statu nascendi 'obsolete_visual anlage in statu nascendi' SubClassOf 'obsolete class' 'obsolete_visual anlage in statu nascendi' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002044 BC-1 'BC-1' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lymphatic part of lymphoid system' and ('part_of' some 'Homo sapiens')))) 'BC-1' SubClassOf 'bearer_of' some 'lymphoid neoplasm' http://www.ebi.ac.uk/efo/EFO_0003372 obsolete_visual primordium 'obsolete_visual primordium' SubClassOf 'obsolete class' 'obsolete_visual primordium' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome 'Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 'Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 http://www.ebi.ac.uk/efo/EFO_0002043 B140P 'B140P' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'organism')))) 'B140P' SubClassOf 'bearer_of' some 'leukemia' http://www.ebi.ac.uk/efo/EFO_0003373 obsolete_fat body primordium 'obsolete_fat body primordium' SubClassOf 'obsolete class' 'obsolete_fat body primordium' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002046 BC-3 'BC-3' SubClassOf 'bearer_of' some 'lymphoid neoplasm' 'BC-3' SubClassOf 'derives_from' some ('lymphocyte' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003378 obsolete_large intestine primordium 'obsolete_large intestine primordium' SubClassOf 'obsolete class' 'obsolete_large intestine primordium' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_363680 2p13.2 microdeletion syndrome '2p13.2 microdeletion syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '2p13.2 microdeletion syndrome' SubClassOf 'Partial deletion of the short arm of chromosome 2' '2p13.2 microdeletion syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '2p13.2 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 '2p13.2 microdeletion syndrome' SubClassOf 'Partial deletion of the short arm of chromosome 2' '2p13.2 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 http://purl.obolibrary.org/obo/UBERON_2005025 dorsal longitudinal anastomotic vessel 'dorsal longitudinal anastomotic vessel' SubClassOf http://purl.obolibrary.org/obo/UBERON_0003513 'dorsal longitudinal anastomotic vessel' SubClassOf http://purl.obolibrary.org/obo/UBERON_0003524 http://www.ebi.ac.uk/efo/EFO_0002045 BC-2 'BC-2' SubClassOf 'bearer_of' some 'lymphoma' 'BC-2' SubClassOf 'bearer_of' some 'lymphoid neoplasm' 'BC-2' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003379 obsolete_rectum primordium 'obsolete_rectum primordium' SubClassOf 'obsolete class' 'obsolete_rectum primordium' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002048 BCBL-1 'BCBL-1' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'BCBL-1' SubClassOf 'bearer_of' some 'lymphoma' http://www.ebi.ac.uk/efo/EFO_0003376 obsolete_Malpighian tubule main body primordium 'obsolete_Malpighian tubule main body primordium' SubClassOf 'obsolete class' 'obsolete_Malpighian tubule main body primordium' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002047 BC-5 'BC-5' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Mus musculus')))) http://www.ebi.ac.uk/efo/EFO_0003377 obsolete_small intestine primordium 'obsolete_small intestine primordium' SubClassOf 'obsolete class' 'obsolete_small intestine primordium' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002049 BCKN-1 'BCKN-1' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'BCKN-1' SubClassOf 'bearer_of' some 'lymphoma' http://purl.obolibrary.org/obo/UBERON_0012652 colorectum 'colorectum' SubClassOf 'has part' some 'large intestine' 'colorectum' SubClassOf 'has part' some 'rectum' http://purl.obolibrary.org/obo/UBERON_0001945 superior colliculus 'superior colliculus' SubClassOf 'part_of' some 'midbrain tectum' 'superior colliculus' DisjointWith 'inferior colliculus' http://purl.obolibrary.org/obo/UBERON_2005093 nasal vein 'nasal vein' SubClassOf 'vein' 'nasal vein' SubClassOf http://purl.obolibrary.org/obo/UBERON_0003496 'nasal vein' SubClassOf http://purl.obolibrary.org/obo/UBERON_0009141 http://www.ebi.ac.uk/efo/EFO_0002071 LNCAP 'LNCAP' SubClassOf 'bearer_of' some 'prostate carcinoma' 'LNCAP' SubClassOf 'is_input_of' some 'ENCODE functional genome mapping' 'LNCAP' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('prostate gland' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/UBERON_0001946 inferior colliculus 'superior colliculus' DisjointWith 'inferior colliculus' 'inferior colliculus' SubClassOf 'part_of' some 'midbrain tectum' http://www.ebi.ac.uk/efo/EFO_0002070 LbetaT2 'LbetaT2' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('pituitary gland' and ('part_of' some 'Mus musculus')))) http://www.ebi.ac.uk/efo/EFO_0002073 mIMCD-3 'mIMCD-3' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Mus musculus')))) http://purl.obolibrary.org/obo/CHEBI_17268 myo-inositol 'myo-inositol' SubClassOf 'chemical entity' 'myo-inositol' SubClassOf 'chemical entity' http://www.ebi.ac.uk/efo/EFO_0002072 MCF-7aro 'MCF-7aro' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0002075 PEL-5 'PEL-5' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'PEL-5' SubClassOf 'bearer_of' some 'lymphoma' http://www.ebi.ac.uk/efo/EFO_0002074 PC-3 'PC-3' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('prostate gland' and ('part_of' some 'Homo sapiens')))) 'PC-3' SubClassOf 'derives_from' some 'prostate adenocarcinoma' http://www.orpha.net/ORDO/Orphanet_363694 Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome 'Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome' SubClassOf 'Genetic renal tubular disease' 'Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome' SubClassOf 'Genetic hypertension' 'Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome' SubClassOf 'Genetic renal tubular disease' 'Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019744 'Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017159 http://www.ebi.ac.uk/efo/EFO_0002077 Ramos 'Ramos' SubClassOf 'derives_from' some ('lymphoblast' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'Ramos' SubClassOf 'bearer_of' some 'Burkitts lymphoma' http://www.ebi.ac.uk/efo/EFO_0002076 R1 'R1' SubClassOf 'derives_from' some ('embryonic stem cell' and ('part_of' some ('embryo' and ('part_of' some 'Mus musculus')))) http://www.ebi.ac.uk/efo/EFO_0002079 SK-MEL-2 'SK-MEL-2' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'SK-MEL-2' SubClassOf 'bearer_of' some 'melanoma' http://www.ebi.ac.uk/efo/EFO_0002078 S1 'S1' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('embryo' and ('part_of' some 'Drosophila melanogaster')))) http://purl.obolibrary.org/obo/CHEBI_55535 (R)-2-hydroxy-4-methylpentanoate '(R)-2-hydroxy-4-methylpentanoate' SubClassOf 'lipid' '(R)-2-hydroxy-4-methylpentanoate' SubClassOf 'lipid' http://purl.obolibrary.org/obo/CHEBI_30245 linoleate 'linoleate' SubClassOf 'chemical entity' 'linoleate' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_79345 Brachytelephalangic chondrodysplasia punctata 'Brachytelephalangic chondrodysplasia punctata' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 http://purl.obolibrary.org/obo/HANCESTRO_0438 Iranian 'Iranian' SubClassOf 'Greater Middle Eastern (Middle Eastern, North African or Persian)' 'Iranian' SubClassOf 'isDemonymOf' some 'Iran' 'Iranian' SubClassOf 'Greater Middle Eastern (Middle Eastern, North African or Persian)' http://www.orpha.net/ORDO/Orphanet_42062 Iminoglycinuria 'Iminoglycinuria' SubClassOf 'Disorder of neutral amino acid transport' 'Iminoglycinuria' SubClassOf 'Disorder of neutral amino acid transport' http://www.orpha.net/ORDO/Orphanet_79344 Autosomal dominant chondrodysplasia punctata 'Autosomal dominant chondrodysplasia punctata' SubClassOf 'Non-rhizomelic chondrodysplasia punctata' 'Autosomal dominant chondrodysplasia punctata' SubClassOf 'Non-rhizomelic chondrodysplasia punctata' 'Autosomal dominant chondrodysplasia punctata' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Autosomal dominant chondrodysplasia punctata' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 'Autosomal dominant chondrodysplasia punctata' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 http://www.orpha.net/ORDO/Orphanet_79347 Chondrodysplasia punctata, Toriello type 'Chondrodysplasia punctata, Toriello type' SubClassOf 'Non-rhizomelic chondrodysplasia punctata' 'Chondrodysplasia punctata, Toriello type' SubClassOf 'Non-rhizomelic chondrodysplasia punctata' http://www.orpha.net/ORDO/Orphanet_79346 Chondrodysplasia punctata, tibial-metacarpal type 'Chondrodysplasia punctata, tibial-metacarpal type' SubClassOf 'Non-rhizomelic chondrodysplasia punctata' 'Chondrodysplasia punctata, tibial-metacarpal type' SubClassOf 'Autosomal dominant chondrodysplasia punctata' http://purl.obolibrary.org/obo/CHEBI_68848 gamma-Glu-Val 'gamma-Glu-Val' SubClassOf 'chemical entity' 'gamma-Glu-Val' SubClassOf 'chemical entity' http://www.ebi.ac.uk/efo/EFO_0002080 obsolete_SKMEL5 'obsolete_SKMEL5' SubClassOf 'obsolete class' 'obsolete_SKMEL5' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002060 IBL4 'IBL4' SubClassOf 'bearer_of' some 'lymphoma' 'IBL4' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003392 obsolete_hypopharynx anlage in statu nascendi 'obsolete_hypopharynx anlage in statu nascendi' SubClassOf 'obsolete class' 'obsolete_hypopharynx anlage in statu nascendi' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003393 obsolete_hypopharyngeal sense organ primordium 'obsolete_hypopharyngeal sense organ primordium' SubClassOf 'obsolete class' 'obsolete_hypopharyngeal sense organ primordium' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002062 ITM-E6E7 'ITM-E6E7' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003390 obsolete_embryonic Malpighian tubule tip cell 'obsolete_embryonic Malpighian tubule tip cell' SubClassOf 'obsolete class' 'obsolete_embryonic Malpighian tubule tip cell' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002061 ITM 'ITM' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003391 obsolete_embryonic outer optic lobe primordium 'obsolete_embryonic outer optic lobe primordium' SubClassOf 'obsolete class' 'obsolete_embryonic outer optic lobe primordium' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002064 ITM-ST 'ITM-ST' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003396 obsolete_prothoracic gland 'obsolete_prothoracic gland' SubClassOf 'obsolete class' 'obsolete_prothoracic gland' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002063 ITM-E6E7-ST 'ITM-E6E7-ST' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/UBERON_0001954 Ammon's horn 'Ammon's horn' SubClassOf 'part_of' some 'hippocampal formation' http://www.ebi.ac.uk/efo/EFO_0002066 JEG3 'JEG3' SubClassOf 'bearer_of' some 'choriocarcinoma' 'JEG3' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('placenta' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003394 obsolete_embryonic stomatogastric nervous system 'obsolete_embryonic stomatogastric nervous system' SubClassOf 'obsolete class' 'obsolete_embryonic stomatogastric nervous system' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002065 ITV 'ITV' SubClassOf 'derives_from' some ('fibroblast' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) 'ITV' SubClassOf 'derives_from' some 'IMR-90' http://www.ebi.ac.uk/efo/EFO_0003395 obsolete_ring gland 'obsolete_ring gland' SubClassOf 'obsolete class' 'obsolete_ring gland' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002068 Kc 'Kc' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Drosophila melanogaster')))) http://www.ebi.ac.uk/efo/EFO_0002067 K562 'K562' SubClassOf 'derives_from' some ('lymphocyte' and ('part_of' some ('blood' and ('part_of' some 'Homo sapiens')))) 'K562' SubClassOf 'bearer_of' some 'chronic myelogenous leukemia' 'K562' SubClassOf 'is_input_of' some 'ENCODE functional genome mapping' http://www.ebi.ac.uk/efo/EFO_0003398 obsolete_capitellum 'obsolete_capitellum' SubClassOf 'obsolete class' 'obsolete_capitellum' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002069 KELLY 'KELLY' SubClassOf 'bearer_of' some 'neuroblastoma' 'KELLY' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('brain' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003399 obsolete_pole plasm 'obsolete_pole plasm' SubClassOf 'obsolete class' 'obsolete_pole plasm' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_29072 Hereditary pheochromocytoma-paraganglioma 'Hereditary pheochromocytoma-paraganglioma' SubClassOf 'Genetic hypertension' 'Hereditary pheochromocytoma-paraganglioma' SubClassOf 'urogenital neoplasm' 'Hereditary pheochromocytoma-paraganglioma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019116 http://www.orpha.net/ORDO/Orphanet_79333 COG7-CDG 'COG7-CDG' SubClassOf 'Congenital disorder of glycosylation with cardiac malformation as a major feature' 'COG7-CDG' SubClassOf 'Defect in conserved oligomeric Golgi complex' 'COG7-CDG' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' 'COG7-CDG' SubClassOf 'Congenital disorder of glycosylation with skin involvement' 'COG7-CDG' SubClassOf 'Congenital disorder of glycosylation with cardiac malformation as a major feature' 'COG7-CDG' SubClassOf 'Defect in conserved oligomeric Golgi complex' 'COG7-CDG' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' 'COG7-CDG' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'COG7-CDG' SubClassOf 'congenital disorder of glycosylation type II' 'COG7-CDG' SubClassOf 'Congenital disorder of glycosylation with skin involvement' http://purl.obolibrary.org/obo/UBERON_0001950 neocortex 'neocortex' SubClassOf 'part_of' some 'cerebral cortex' http://www.orpha.net/ORDO/Orphanet_79332 B4GALT1-CDG 'B4GALT1-CDG' SubClassOf 'Genetic syndrome with a Dandy-Walker malformation as major feature' 'B4GALT1-CDG' SubClassOf 'Congenital disorder of glycosylation with hepatic involvement' 'B4GALT1-CDG' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 'B4GALT1-CDG' SubClassOf 'Congenital disorder of glycosylation with developmental anomaly' 'B4GALT1-CDG' SubClassOf 'Disorder of multiple glycosylation' 'B4GALT1-CDG' SubClassOf 'Genetic syndrome with a Dandy-Walker malformation as major feature' 'B4GALT1-CDG' SubClassOf 'Congenital disorder of glycosylation with hepatic involvement' 'B4GALT1-CDG' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 'B4GALT1-CDG' SubClassOf 'Disorder of multiple glycosylation' 'B4GALT1-CDG' SubClassOf 'congenital disorder of glycosylation type II' 'B4GALT1-CDG' SubClassOf 'Congenital disorder of glycosylation-related bone disorder' http://purl.obolibrary.org/obo/UBERON_0001969 blood plasma 'blood plasma' SubClassOf http://purl.obolibrary.org/obo/UBERON_0000179 'blood plasma' SubClassOf 'part_of' some 'blood' http://www.ebi.ac.uk/efo/EFO_0002095 22Rv1 '22Rv1' SubClassOf 'bearer_of' some 'prostate carcinoma' '22Rv1' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('prostate gland' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0002094 1A2 '1A2' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lymphatic part of lymphoid system' and ('part_of' some 'Homo sapiens')))) '1A2' SubClassOf 'bearer_of' some 'Burkitts lymphoma' http://www.ebi.ac.uk/efo/EFO_0002097 639V '639V' SubClassOf 'bearer_of' some 'bladder carcinoma' '639V' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('urinary bladder' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0002096 5637 '5637' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('urinary bladder' and ('part_of' some 'Homo sapiens')))) '5637' SubClassOf 'bearer_of' some 'bladder carcinoma' http://www.ebi.ac.uk/efo/EFO_0002099 769P '769P' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('kidney' and ('part_of' some 'Homo sapiens')))) '769P' SubClassOf 'bearer_of' some 'renal carcinoma' http://www.ebi.ac.uk/efo/EFO_0002098 647V '647V' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('urinary bladder' and ('part_of' some 'Homo sapiens')))) '647V' SubClassOf 'bearer_of' some 'bladder carcinoma' http://www.orpha.net/ORDO/Orphanet_79319 MPI-CDG 'MPI-CDG' SubClassOf 'Disorder of protein N-glycosylation' 'MPI-CDG' SubClassOf 'Syndromic lymphedema' 'MPI-CDG' SubClassOf 'Congenital disorder of glycosylation with intestinal involvement' 'MPI-CDG' SubClassOf 'Congenital disorder of glycosylation with hepatic involvement' 'MPI-CDG' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018722 'MPI-CDG' SubClassOf 'Disorder of protein N-glycosylation' 'MPI-CDG' SubClassOf 'congenital disorder of glycosylation type I' 'MPI-CDG' SubClassOf 'Syndromic lymphedema' 'MPI-CDG' SubClassOf 'Congenital disorder of glycosylation with intestinal involvement' 'MPI-CDG' SubClassOf 'Milroy disease' 'MPI-CDG' SubClassOf 'Congenital disorder of glycosylation with hepatic involvement' http://www.orpha.net/ORDO/Orphanet_79327 ALG1-CDG 'ALG1-CDG' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'ALG1-CDG' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' 'ALG1-CDG' SubClassOf 'Disorder of protein N-glycosylation' 'ALG1-CDG' SubClassOf 'congenital disorder of glycosylation type I' 'ALG1-CDG' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'ALG1-CDG' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' 'ALG1-CDG' SubClassOf 'Disorder of protein N-glycosylation' http://www.orpha.net/ORDO/Orphanet_79326 ALG2-CDG 'ALG2-CDG' SubClassOf 'Congenital disorder of glycosylation with hepatic involvement' 'ALG2-CDG' SubClassOf 'Disorder of protein N-glycosylation' 'ALG2-CDG' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'ALG2-CDG' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' 'ALG2-CDG' SubClassOf 'congenital disorder of glycosylation type I' 'ALG2-CDG' SubClassOf 'Congenital disorder of glycosylation with hepatic involvement' 'ALG2-CDG' SubClassOf 'Disorder of protein N-glycosylation' 'ALG2-CDG' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'ALG2-CDG' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' http://www.orpha.net/ORDO/Orphanet_79329 MGAT2-CDG 'MGAT2-CDG' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'MGAT2-CDG' SubClassOf 'Disorder of protein N-glycosylation' 'MGAT2-CDG' SubClassOf 'Congenital disorder of glycosylation with cardiac malformation as a major feature' 'MGAT2-CDG' SubClassOf 'congenital disorder of glycosylation type II' 'MGAT2-CDG' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'MGAT2-CDG' SubClassOf 'Disorder of protein N-glycosylation' 'MGAT2-CDG' SubClassOf 'Congenital disorder of glycosylation with cardiac malformation as a major feature' 'MGAT2-CDG' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 http://www.orpha.net/ORDO/Orphanet_79328 ALG9-CDG 'ALG9-CDG' SubClassOf 'Disorder of protein N-glycosylation' 'ALG9-CDG' SubClassOf 'Congenital disorder of glycosylation with hepatic involvement' 'ALG9-CDG' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' 'ALG9-CDG' SubClassOf 'Congenital disorder of glycosylation with hepatic involvement' 'ALG9-CDG' SubClassOf 'Disorder of protein N-glycosylation' 'ALG9-CDG' SubClassOf 'congenital disorder of glycosylation type I' 'ALG9-CDG' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' http://www.orpha.net/ORDO/Orphanet_79323 MPDU1-CDG 'MPDU1-CDG' SubClassOf 'Congenital disorder of glycosylation with skin involvement' 'MPDU1-CDG' SubClassOf 'Disorder of multiple glycosylation' 'MPDU1-CDG' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' 'MPDU1-CDG' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'MPDU1-CDG' SubClassOf 'Congenital disorder of glycosylation with skin involvement' 'MPDU1-CDG' SubClassOf 'Disorder of multiple glycosylation' 'MPDU1-CDG' SubClassOf 'congenital disorder of glycosylation type I' 'MPDU1-CDG' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' 'MPDU1-CDG' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' http://www.orpha.net/ORDO/Orphanet_79322 DPM1-CDG 'DPM1-CDG' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' 'DPM1-CDG' SubClassOf 'Disorder of multiple glycosylation' 'DPM1-CDG' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' 'DPM1-CDG' SubClassOf 'Disorder of multiple glycosylation' 'DPM1-CDG' SubClassOf 'congenital disorder of glycosylation type I' http://www.orpha.net/ORDO/Orphanet_79325 ALG8-CDG 'ALG8-CDG' SubClassOf 'Congenital disorder of glycosylation with intestinal involvement' 'ALG8-CDG' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'ALG8-CDG' SubClassOf 'Disorder of protein N-glycosylation' 'ALG8-CDG' SubClassOf 'Congenital disorder of glycosylation with hepatic involvement' 'ALG8-CDG' SubClassOf 'Congenital disorder of glycosylation with nephropathy as a major feature' 'ALG8-CDG' SubClassOf 'congenital disorder of glycosylation type I' 'ALG8-CDG' SubClassOf 'Congenital disorder of glycosylation with intestinal involvement' 'ALG8-CDG' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'ALG8-CDG' SubClassOf 'Disorder of protein N-glycosylation' 'ALG8-CDG' SubClassOf 'Congenital disorder of glycosylation with hepatic involvement' 'ALG8-CDG' SubClassOf 'Congenital disorder of glycosylation with nephropathy as a major feature' http://www.orpha.net/ORDO/Orphanet_79324 ALG12-CDG 'ALG12-CDG' SubClassOf 'Disorder of protein N-glycosylation' 'ALG12-CDG' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 'ALG12-CDG' SubClassOf 'Disorder of protein N-glycosylation' 'ALG12-CDG' SubClassOf 'congenital disorder of glycosylation type I' 'ALG12-CDG' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' http://www.orpha.net/ORDO/Orphanet_79321 ALG3-CDG 'ALG3-CDG' SubClassOf 'Disorder of protein N-glycosylation' 'ALG3-CDG' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' 'ALG3-CDG' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'ALG3-CDG' SubClassOf 'Disorder of protein N-glycosylation' 'ALG3-CDG' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' 'ALG3-CDG' SubClassOf 'congenital disorder of glycosylation type I' 'ALG3-CDG' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' http://purl.obolibrary.org/obo/CHEBI_17282 3-(indol-3-yl)lactate '3-(indol-3-yl)lactate' SubClassOf 'chemical entity' '3-(indol-3-yl)lactate' SubClassOf 'chemical entity' http://www.ebi.ac.uk/efo/EFO_0002082 obsolete_ssMCF7 'obsolete_ssMCF7' SubClassOf 'obsolete class' 'obsolete_ssMCF7' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002081 SN56.B5.G4 'SN56.B5.G4' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'organism')))) 'SN56.B5.G4' SubClassOf 'bearer_of' some 'neuroblastoma' http://www.ebi.ac.uk/efo/EFO_0002084 T84 'T84' SubClassOf 'cancer cell line' 'T84' SubClassOf 'colorectal cancer cell line' 'T84' SubClassOf 'bearer_of' some 'colorectal adenocarcinoma' 'T84' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('colon' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0002083 SW480 'SW480' SubClassOf 'cancer cell line' 'SW480' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('colon' and ('part_of' some 'Homo sapiens')))) 'SW480' SubClassOf 'colorectal cancer cell line' 'SW480' SubClassOf 'bearer_of' some 'colorectal adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0002086 TIVE 'TIVE' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0002085 T98G 'T98G' SubClassOf 'bearer_of' some 'glioblastoma multiforme' 'T98G' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('brain' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/UBERON_0001976 epithelium of esophagus 'epithelium of esophagus' SubClassOf 'epithelium' 'epithelium of esophagus' SubClassOf http://purl.obolibrary.org/obo/UBERON_0003350 'epithelium of esophagus' SubClassOf http://purl.obolibrary.org/obo/UBERON_0003929 'epithelium of esophagus' SubClassOf 'epithelium' 'epithelium of esophagus' SubClassOf 'part_of' some 'esophagus' http://www.ebi.ac.uk/efo/EFO_0002087 fibrosarcoma 'fibrosarcoma' SubClassOf 'sarcoma' 'fibrosarcoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002176 'fibrosarcoma' SubClassOf 'Fibroblastic Neoplasm' 'fibrosarcoma' SubClassOf 'soft tissue sarcoma' http://purl.obolibrary.org/obo/HANCESTRO_0462 British 'British' SubClassOf 'isDemonymOf' some 'United Kingdom' http://purl.obolibrary.org/obo/HANCESTRO_0463 American 'American' SubClassOf 'European' 'American' SubClassOf 'European' 'American' SubClassOf 'isDemonymOf' some 'United States' http://www.orpha.net/ORDO/Orphanet_79315 D-2-hydroxyglutaric aciduria 'D-2-hydroxyglutaric aciduria' SubClassOf '2-hydroxyglutaric aciduria' 'D-2-hydroxyglutaric aciduria' SubClassOf '2-hydroxyglutaric aciduria' http://www.orpha.net/ORDO/Orphanet_79318 PMM2-CDG 'PMM2-CDG' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'PMM2-CDG' SubClassOf 'Disorder of protein N-glycosylation' 'PMM2-CDG' SubClassOf 'Congenital disorder of glycosylation with skin involvement' 'PMM2-CDG' SubClassOf 'Congenital disorder of glycosylation with hepatic involvement' 'PMM2-CDG' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' 'PMM2-CDG' SubClassOf 'congenital disorder of glycosylation type I' 'PMM2-CDG' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'PMM2-CDG' SubClassOf 'Disorder of protein N-glycosylation' 'PMM2-CDG' SubClassOf 'Congenital disorder of glycosylation with skin involvement' 'PMM2-CDG' SubClassOf 'Congenital disorder of glycosylation with hepatic involvement' 'PMM2-CDG' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' http://www.orpha.net/ORDO/Orphanet_79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- 'Vitamin B12-unresponsive methylmalonic acidemia type mut-' SubClassOf http://purl.obolibrary.org/obo/MONDO_0009612 http://www.orpha.net/ORDO/Orphanet_79311 Vitamin B12-responsive methylmalonic acidemia type cblB 'Vitamin B12-responsive methylmalonic acidemia type cblB' SubClassOf 'Vitamin B12-responsive methylmalonic acidemia' 'Vitamin B12-responsive methylmalonic acidemia type cblB' SubClassOf 'Vitamin B12-responsive methylmalonic acidemia' http://www.orpha.net/ORDO/Orphanet_79314 L-2-hydroxyglutaric aciduria 'L-2-hydroxyglutaric aciduria' SubClassOf '2-hydroxyglutaric aciduria' 'L-2-hydroxyglutaric aciduria' SubClassOf '2-hydroxyglutaric aciduria' http://www.orpha.net/ORDO/Orphanet_79310 Vitamin B12-responsive methylmalonic acidemia type cblA 'Vitamin B12-responsive methylmalonic acidemia type cblA' SubClassOf 'Vitamin B12-responsive methylmalonic acidemia' 'Vitamin B12-responsive methylmalonic acidemia type cblA' SubClassOf 'Vitamin B12-responsive methylmalonic acidemia' http://purl.obolibrary.org/obo/UBERON_0011150 pharyngeal arch derived gill 'pharyngeal arch derived gill' SubClassOf 'develops_from' some 'pharyngeal arch' 'pharyngeal arch derived gill' SubClassOf 'develops_from' some 'primordium' 'pharyngeal arch derived gill' SubClassOf 'part_of' some 'respiratory system' 'pharyngeal arch derived gill' SubClassOf 'develops_from' some 'pharyngeal pouch' http://purl.obolibrary.org/obo/CHEBI_4047 L-cysteinylglycine 'L-cysteinylglycine' SubClassOf 'chemical entity' 'L-cysteinylglycine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/UBERON_0011146 silk gland 'silk gland' SubClassOf 'animal component' 'silk gland' SubClassOf http://purl.obolibrary.org/obo/UBERON_0002365 http://purl.obolibrary.org/obo/CHEBI_31899 nemonapride 'nemonapride' SubClassOf 'has_role' some 'drug role' http://purl.obolibrary.org/obo/HP_0000219 Thin upper lip vermilion 'Thin upper lip vermilion' SubClassOf 'abnormality of the mouth' 'Thin upper lip vermilion' SubClassOf 'abnormality of the mouth' http://purl.obolibrary.org/obo/CLO_0018566 ND06449 'ND06449' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'ND06449' SubClassOf 'bearer_of' some 'Parkinson's disease' 'ND06449' SubClassOf 'has_quality' some 'male' 'ND06449' SubClassOf 'cultured cell' http://purl.obolibrary.org/obo/CL_0000988 hematopoietic cell 'hematopoietic cell' EquivalentTo 'cell type' and ('located_in' some 'hematopoietic system') http://purl.obolibrary.org/obo/HP_0000218 High palate 'High palate' SubClassOf 'abnormality of the mouth' 'High palate' SubClassOf 'abnormality of the mouth' http://www.orpha.net/ORDO/Orphanet_289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation 'Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation' SubClassOf 'Childhood-onset epilepsy syndrome' 'Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation' SubClassOf 'Childhood-onset epilepsy syndrome' http://purl.obolibrary.org/obo/CLO_0031535 GM14479 'GM14479' SubClassOf 'cultured cell' 'GM14479' SubClassOf 'has_quality' some 'female' 'GM14479' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/CLO_0031534 GM14480 'GM14480' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM14480' SubClassOf 'cultured cell' 'GM14480' SubClassOf 'has_quality' some 'female' http://purl.obolibrary.org/obo/HP_0000225 Gingival bleeding 'Gingival bleeding' EquivalentTo 'has part' some ('increased amount' and ('inheres_in' some ('hemorrhage' and ('part_of' some 'gingiva'))) and ('has component' some 'abnormal')) http://purl.obolibrary.org/obo/CHEBI_17596 inosine 'inosine' SubClassOf 'chemical entity' 'inosine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CLO_0031533 GM14481 'GM14481' SubClassOf 'cultured cell' 'GM14481' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM14481' SubClassOf 'has_quality' some 'female' http://purl.obolibrary.org/obo/CLO_0031531 GM14477 'GM14477' SubClassOf 'cultured cell' 'GM14477' SubClassOf 'has_quality' some 'female' 'GM14477' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/CLO_0031529 GM14478 'GM14478' SubClassOf 'cultured cell' 'GM14478' SubClassOf 'has_quality' some 'female' 'GM14478' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/CHEBI_28201 rotenone 'rotenone' SubClassOf ('has_role' some 'phytogenic insecticide') or ('has_role' some 'mitochondrial NADH:ubiquinone reductase inhibitor') http://purl.obolibrary.org/obo/UBERON_0000451 prefrontal cortex 'prefrontal cortex' SubClassOf 'part_of' some 'frontal cortex' http://purl.obolibrary.org/obo/UBERON_0001783 optic disc 'optic disc' SubClassOf 'part_of' some 'retina' http://purl.obolibrary.org/obo/UBERON_0000453 decidua basalis 'decidua basalis' SubClassOf 'part_of' some 'placenta' http://purl.obolibrary.org/obo/CHEBI_77225 (7Z,10Z,13Z,16Z)-docosatetraenoate '(7Z,10Z,13Z,16Z)-docosatetraenoate' SubClassOf 'lipid' '(7Z,10Z,13Z,16Z)-docosatetraenoate' SubClassOf 'lipid' http://purl.obolibrary.org/obo/CLO_0031580 GM14568 'GM14568' SubClassOf 'cultured cell' 'GM14568' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM14568' SubClassOf 'has_quality' some 'male' http://purl.obolibrary.org/obo/HP_0001508 failure to thrive 'failure to thrive' SubClassOf 'Decreased body weight' 'failure to thrive' SubClassOf 'Decreased body weight' http://purl.obolibrary.org/obo/CLO_0031581 GM14569 'GM14569' SubClassOf 'cultured cell' 'GM14569' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM14569' SubClassOf 'has_quality' some 'male' http://purl.obolibrary.org/obo/CHEBI_16236 ethanol 'ethanol' SubClassOf ('has_role' some 'antiseptic drug') or ('has_role' some 'polar solvent role') http://purl.obolibrary.org/obo/CHEBI_17568 uracil 'uracil' SubClassOf 'chemical entity' 'uracil' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CLO_0031585 GM14581 'GM14581' SubClassOf 'has_quality' some 'male' 'GM14581' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM14581' SubClassOf 'cultured cell' http://purl.obolibrary.org/obo/CHEBI_4027 cyclophosphamide 'cyclophosphamide' SubClassOf 'has_role' some 'drug' http://purl.obolibrary.org/obo/UBERON_0000473 testis 'testis' SubClassOf 'animal component' 'testis' DisjointWith 'female gonad' 'testis' SubClassOf 'part_of' some 'male reproductive system' 'testis' SubClassOf 'develops_from' some 'gonad primordium' 'testis' DisjointWith http://purl.obolibrary.org/obo/UBERON_0009117 'testis' SubClassOf 'gonad' http://purl.obolibrary.org/obo/UBERON_0000474 female reproductive system 'female reproductive system' SubClassOf 'part_of' some 'genitourinary system' 'male reproductive system' DisjointWith 'female reproductive system' http://purl.obolibrary.org/obo/HP_0001518 Small for gestational age 'Small for gestational age' SubClassOf 'Decreased body weight' 'Small for gestational age' SubClassOf 'Decreased body weight' http://www.orpha.net/ORDO/Orphanet_352629 16q24.1 microdeletion syndrome '16q24.1 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 16' '16q24.1 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017017 '16q24.1 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 16' http://purl.obolibrary.org/obo/HP_0001522 Death in infancy 'Death in infancy' SubClassOf 'mortality' 'Death in infancy' SubClassOf 'mortality' http://purl.obolibrary.org/obo/CHEBI_4034 cyfluthrin 'cyfluthrin' SubClassOf ('has_role' some 'agrochemical role') and ('has_role' some 'pyrethroid ester insecticide') http://purl.obolibrary.org/obo/CHEBI_4031 cyclosporin A 'cyclosporin A' SubClassOf ('has_role' some 'enzyme inhibitor') and ('has_role' some 'immunosuppressive agent') and ('has_role' some 'antifungal drug') and ('has_role' some 'antirheumatic drug') and ('has_role' some 'dermatologic drug') http://purl.obolibrary.org/obo/PO_0025223 vegetative shoot apex 'vegetative shoot apex' SubClassOf 'shoot apex' 'vegetative shoot apex' SubClassOf 'shoot apex' http://www.orpha.net/ORDO/Orphanet_254531 Paternal 14q32.2 hypomethylation syndrome 'Paternal 14q32.2 hypomethylation syndrome' SubClassOf 'Motor developmental delay due to 14q32.2 paternally expressed gene defect' 'Paternal 14q32.2 hypomethylation syndrome' SubClassOf 'Motor developmental delay due to 14q32.2 paternally expressed gene defect' http://www.orpha.net/ORDO/Orphanet_588 Muscle-eye-brain disease 'Muscle-eye-brain disease' SubClassOf 'Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase' 'Muscle-eye-brain disease' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'Muscle-eye-brain disease' SubClassOf 'Qualitative or quantitative defects of FKRP' 'Muscle-eye-brain disease' SubClassOf 'Syndromic myopia' 'Muscle-eye-brain disease' SubClassOf 'Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies' 'Muscle-eye-brain disease' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' 'Muscle-eye-brain disease' SubClassOf 'Congenital disorder of glycosylation with developmental anomaly' 'Muscle-eye-brain disease' SubClassOf 'Disorder of O-mannosylglycan synthesis' 'Muscle-eye-brain disease' SubClassOf 'Qualitative or quantitative defects of protein O-mannosyltransferase 2' 'Muscle-eye-brain disease' SubClassOf 'Qualitative or quantitative defects of fukutin' 'Muscle-eye-brain disease' SubClassOf 'Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase' 'Muscle-eye-brain disease' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'Muscle-eye-brain disease' SubClassOf 'Qualitative or quantitative defects of FKRP' 'Muscle-eye-brain disease' SubClassOf 'Syndromic myopia' 'Muscle-eye-brain disease' SubClassOf 'Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies' 'Muscle-eye-brain disease' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' 'Muscle-eye-brain disease' SubClassOf 'Qualitative or quantitative defects of protein O-mannosyltransferase 2' 'Muscle-eye-brain disease' SubClassOf 'Congenital disorder of glycosylation with developmental anomaly' 'Muscle-eye-brain disease' SubClassOf 'Disorder of O-mannosylglycan synthesis' 'Muscle-eye-brain disease' SubClassOf 'Qualitative or quantitative defects of fukutin' http://www.orpha.net/ORDO/Orphanet_587 Muir-Torre syndrome 'Muir-Torre syndrome' SubClassOf 'Palpebral sebaceous gland tumor' 'Muir-Torre syndrome' SubClassOf 'Genetic skin tumor' 'Muir-Torre syndrome' SubClassOf 'Lynch syndrome' 'Muir-Torre syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021490 'Muir-Torre syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020173 'Muir-Torre syndrome' SubClassOf 'Palpebral sebaceous gland tumor' 'Muir-Torre syndrome' SubClassOf 'Genetic eye tumor' 'Muir-Torre syndrome' SubClassOf 'Lynch syndrome' 'Muir-Torre syndrome' SubClassOf 'Genetic skin tumor' http://www.orpha.net/ORDO/Orphanet_586 Cystic fibrosis 'Cystic fibrosis' SubClassOf 'Rare genetic disorder with obstructive azoospermia' 'Cystic fibrosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018396 'Cystic fibrosis' SubClassOf 'Genetic biliary tract disease' 'Cystic fibrosis' SubClassOf 'Rare genetic disorder with obstructive azoospermia' 'Cystic fibrosis' SubClassOf 'pancreas disease' 'Cystic fibrosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015118 'Cystic fibrosis' SubClassOf 'autosomal recessive disease' http://www.orpha.net/ORDO/Orphanet_585 Multiple sulfatase deficiency 'Multiple sulfatase deficiency' SubClassOf 'Neurometabolic disease' 'Multiple sulfatase deficiency' SubClassOf 'Autosomal ichthyosis syndrome with fatal disease course' 'Multiple sulfatase deficiency' SubClassOf 'Developmental anomaly of metabolic origin' 'Multiple sulfatase deficiency' SubClassOf 'Sphingolipidosis' 'Multiple sulfatase deficiency' SubClassOf 'Lysosomal storage disease with skeletal involvement' 'Multiple sulfatase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018299 'Multiple sulfatase deficiency' SubClassOf 'Neurometabolic disease' 'Multiple sulfatase deficiency' SubClassOf 'Rare syndromic dyslipidemia' 'Multiple sulfatase deficiency' SubClassOf 'Autosomal ichthyosis syndrome with fatal disease course' 'Multiple sulfatase deficiency' SubClassOf 'Developmental anomaly of metabolic origin' 'Multiple sulfatase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Multiple sulfatase deficiency' SubClassOf 'Lysosomal storage disease with skeletal involvement' http://www.orpha.net/ORDO/Orphanet_254534 Maternal 14q32.2 hypermethylation syndrome 'Maternal 14q32.2 hypermethylation syndrome' SubClassOf 'Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect' 'Maternal 14q32.2 hypermethylation syndrome' SubClassOf 'Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect' http://www.orpha.net/ORDO/Orphanet_584 Mucopolysaccharidosis type 7 'Mucopolysaccharidosis type 7' SubClassOf 'Mucopolysaccharidosis' 'Mucopolysaccharidosis type 7' SubClassOf 'Lysosomal storage disease with skeletal involvement' 'Mucopolysaccharidosis type 7' SubClassOf 'Mucopolysaccharidosis' 'Mucopolysaccharidosis type 7' SubClassOf 'Lysosomal storage disease with skeletal involvement' 'Mucopolysaccharidosis type 7' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044976 http://www.ebi.ac.uk/efo/EFO_1000862 cervix erosion 'cervix erosion' SubClassOf 'female reproductive system disease' 'cervix erosion' SubClassOf 'has_disease_location' some ('uterine cervix' or ('part_of' some 'uterine cervix')) 'cervix erosion' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002256 http://www.orpha.net/ORDO/Orphanet_217591 Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy 'Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy' SubClassOf 'Rare familial disorder with hypertrophic cardiomyopathy' 'Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024573 'Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017713 'Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0017713 and 'hypertrophic cardiomyopathy' 'Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy' SubClassOf 'Rare familial disorder with hypertrophic cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_583 Mucopolysaccharidosis type 6 'Mucopolysaccharidosis type 6' SubClassOf 'Lysosomal storage disease with skeletal involvement' 'Mucopolysaccharidosis type 6' SubClassOf 'Metabolic disease with corneal opacity' 'Mucopolysaccharidosis type 6' SubClassOf 'Mucopolysaccharidosis' 'Mucopolysaccharidosis type 6' SubClassOf 'Lysosomal storage disease with skeletal involvement' 'Mucopolysaccharidosis type 6' SubClassOf 'Metabolic disease with corneal opacity' 'Mucopolysaccharidosis type 6' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044976 'Mucopolysaccharidosis type 6' SubClassOf 'Mucopolysaccharidosis' 'Mucopolysaccharidosis type 6' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 http://www.ebi.ac.uk/efo/EFO_1000863 Chlamydophila infectious disease 'Chlamydophila infectious disease' SubClassOf 'bacterial disease' 'Chlamydophila infectious disease' SubClassOf 'bacterial disease' 'Chlamydophila infectious disease' SubClassOf 'Chlamydiaceae Infections' http://www.orpha.net/ORDO/Orphanet_582 Mucopolysaccharidosis type 4 'Mucopolysaccharidosis type 4' SubClassOf 'Metabolic disease with corneal opacity' 'Mucopolysaccharidosis type 4' SubClassOf 'Mucopolysaccharidosis' 'Mucopolysaccharidosis type 4' SubClassOf 'Lysosomal storage disease with skeletal involvement' 'Mucopolysaccharidosis type 4' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Mucopolysaccharidosis type 4' SubClassOf 'Metabolic disease with corneal opacity' 'Mucopolysaccharidosis type 4' SubClassOf 'Mucopolysaccharidosis' 'Mucopolysaccharidosis type 4' SubClassOf 'Lysosomal storage disease with skeletal involvement' http://www.ebi.ac.uk/efo/EFO_1000860 cerebral atherosclerosis 'cerebral atherosclerosis' SubClassOf 'atherosclerosis' 'cerebral atherosclerosis' SubClassOf 'atherosclerosis' http://www.orpha.net/ORDO/Orphanet_581 Mucopolysaccharidosis type 3 'Mucopolysaccharidosis type 3' SubClassOf 'Mucopolysaccharidosis' 'Mucopolysaccharidosis type 3' SubClassOf 'Neurometabolic disease' 'Mucopolysaccharidosis type 3' SubClassOf 'Lysosomal storage disease with skeletal involvement' 'Mucopolysaccharidosis type 3' SubClassOf 'Mucopolysaccharidosis' 'Mucopolysaccharidosis type 3' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Mucopolysaccharidosis type 3' SubClassOf 'Neurometabolic disease' 'Mucopolysaccharidosis type 3' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016397 'Mucopolysaccharidosis type 3' SubClassOf 'Lysosomal storage disease with skeletal involvement' http://www.orpha.net/ORDO/Orphanet_580 Mucopolysaccharidosis type 2 'Mucopolysaccharidosis type 2' SubClassOf 'Lysosomal disease with hypertrophic cardiomyopathy' 'Mucopolysaccharidosis type 2' SubClassOf 'Syndromic neurometabolic disease with X-linked intellectual disability' 'Mucopolysaccharidosis type 2' SubClassOf 'Neurometabolic disease' 'Mucopolysaccharidosis type 2' SubClassOf 'Mucopolysaccharidosis' 'Mucopolysaccharidosis type 2' SubClassOf 'Mucopolysaccharidosis with skin involvement' 'Mucopolysaccharidosis type 2' SubClassOf 'Lysosomal storage disease with skeletal involvement' 'Mucopolysaccharidosis type 2' SubClassOf 'Lysosomal disease with hypertrophic cardiomyopathy' 'Mucopolysaccharidosis type 2' SubClassOf 'Syndromic neurometabolic disease with X-linked intellectual disability' 'Mucopolysaccharidosis type 2' SubClassOf 'Lysosomal storage disease with skeletal involvement' 'Mucopolysaccharidosis type 2' SubClassOf 'Mucopolysaccharidosis with skin involvement' 'Mucopolysaccharidosis type 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020169 'Mucopolysaccharidosis type 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044976 http://purl.obolibrary.org/obo/CHEBI_7959 D-penicillamine 'D-penicillamine' SubClassOf 'has_role' some 'antimicrobial agent' http://www.ebi.ac.uk/efo/EFO_1000868 chronic inflammatory demyelinating polyradiculoneuropathy 'chronic inflammatory demyelinating polyradiculoneuropathy' SubClassOf 'neurodegenerative disease' 'chronic inflammatory demyelinating polyradiculoneuropathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003334 'chronic inflammatory demyelinating polyradiculoneuropathy' SubClassOf 'polyradiculoneuropathy' 'chronic inflammatory demyelinating polyradiculoneuropathy' SubClassOf 'neurodegenerative disease' 'chronic inflammatory demyelinating polyradiculoneuropathy' SubClassOf 'has modifier' some 'chronic' http://www.ebi.ac.uk/efo/EFO_1000869 chronic interstitial cystitis 'chronic interstitial cystitis' SubClassOf 'chronic cystitis' 'chronic interstitial cystitis' SubClassOf 'has modifier' some 'chronic' 'chronic interstitial cystitis' SubClassOf 'has_disease_location' some ('pelvis' or ('part_of' some 'pelvis')) 'chronic interstitial cystitis' SubClassOf 'chronic cystitis' http://www.ebi.ac.uk/efo/EFO_1000866 choroid cancer 'choroid cancer' SubClassOf 'head and neck neoplasia' 'choroid cancer' SubClassOf 'head and neck neoplasia' 'choroid cancer' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021258 'choroid cancer' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002095 'choroid cancer' SubClassOf 'uveal cancer' http://www.orpha.net/ORDO/Orphanet_217595 Syndrome associated with hypertrophic cardiomyopathy 'Syndrome associated with hypertrophic cardiomyopathy' SubClassOf 'Rare familial disorder with hypertrophic cardiomyopathy' 'Syndrome associated with hypertrophic cardiomyopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Syndrome associated with hypertrophic cardiomyopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024573 'Syndrome associated with hypertrophic cardiomyopathy' SubClassOf 'Rare familial disorder with hypertrophic cardiomyopathy' 'Syndrome associated with hypertrophic cardiomyopathy' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0002254 and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) and ('disease has feature' some 'hypertrophic cardiomyopathy') 'Syndrome associated with hypertrophic cardiomyopathy' SubClassOf 'disease has feature' some 'hypertrophic cardiomyopathy' http://www.ebi.ac.uk/efo/EFO_1000867 chromophobe adenoma 'chromophobe adenoma' SubClassOf 'adenoma' 'chromophobe adenoma' SubClassOf 'brain neoplasm' 'chromophobe adenoma' SubClassOf 'endocrine neoplasm' 'chromophobe adenoma' SubClassOf 'adenoma' 'chromophobe adenoma' SubClassOf 'has_disease_location' some ('pituitary gland' or ('part_of' some 'pituitary gland')) 'chromophobe adenoma' SubClassOf 'Pituitary Gland Adenoma' http://purl.obolibrary.org/obo/HP_0000286 Epicanthus 'Epicanthus' SubClassOf 'abnormality of the face' 'Epicanthus' SubClassOf 'abnormality of the face' http://www.ebi.ac.uk/efo/EFO_1000864 cholecystolithiasis 'cholecystolithiasis' SubClassOf 'gallbladder disease' 'cholecystolithiasis' SubClassOf 'gallbladder disease' http://www.ebi.ac.uk/efo/EFO_1000865 choledocholithiasis 'choledocholithiasis' SubClassOf 'biliary tract disease' 'choledocholithiasis' SubClassOf 'has_disease_location' some ('bile duct' or ('part_of' some 'bile duct')) 'choledocholithiasis' SubClassOf 'gallstones' 'choledocholithiasis' SubClassOf 'endocrine system disease' 'choledocholithiasis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002886 http://www.orpha.net/ORDO/Orphanet_254528 Maternal 14q32.2 microdeletion syndrome 'Maternal 14q32.2 microdeletion syndrome' SubClassOf 'Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect' 'Maternal 14q32.2 microdeletion syndrome' SubClassOf 'Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect' http://www.orpha.net/ORDO/Orphanet_599 Distal myopathy 'Distal myopathy' SubClassOf 'Genetic skeletal muscle disease' 'Distal myopathy' SubClassOf 'Muscular dystrophy' http://www.orpha.net/ORDO/Orphanet_598 Multiminicore myopathy 'Multiminicore myopathy' SubClassOf 'Qualitative or quantitative defects of selenoprotein N1' 'Multiminicore myopathy' SubClassOf 'Congenital myopathy with cores' 'Multiminicore myopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018753 'Multiminicore myopathy' SubClassOf 'Qualitative or quantitative defects of selenoprotein N1' 'Multiminicore myopathy' SubClassOf 'Congenital myopathy with cores' http://www.orpha.net/ORDO/Orphanet_314376 Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency 'Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004567 'Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021189 'Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://www.orpha.net/ORDO/Orphanet_597 Central core disease 'Central core disease' SubClassOf 'Congenital myopathy with cores' 'Central core disease' SubClassOf 'Congenital myopathy with cores' 'Central core disease' SubClassOf 'Myofibrillar myopathy' http://www.orpha.net/ORDO/Orphanet_596 X-linked centronuclear myopathy 'X-linked centronuclear myopathy' SubClassOf 'Centronuclear myopathy' 'X-linked centronuclear myopathy' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked centronuclear myopathy' SubClassOf 'Qualitative or quantitative defects of myotubularin' 'X-linked centronuclear myopathy' SubClassOf 'Centronuclear myopathy' 'X-linked centronuclear myopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002921 'X-linked centronuclear myopathy' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked centronuclear myopathy' SubClassOf 'Qualitative or quantitative defects of myotubularin' http://www.orpha.net/ORDO/Orphanet_595 Centronuclear myopathy 'Centronuclear myopathy' SubClassOf 'Congenital myopathy' 'Centronuclear myopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020169 'Centronuclear myopathy' SubClassOf 'Congenital myopathy' 'Centronuclear myopathy' SubClassOf 'Myopathy with eye involvement' http://www.orpha.net/ORDO/Orphanet_314373 Chronic diarrhea due to guanylate cyclase 2C overactivity 'Chronic diarrhea due to guanylate cyclase 2C overactivity' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000824 'Chronic diarrhea due to guanylate cyclase 2C overactivity' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Chronic diarrhea due to guanylate cyclase 2C overactivity' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021189 http://www.ebi.ac.uk/efo/EFO_1000873 commensal Bifidobacteriales infectious disease 'commensal Bifidobacteriales infectious disease' SubClassOf 'bacterial disease' 'commensal Bifidobacteriales infectious disease' SubClassOf 'bacterial disease' http://www.ebi.ac.uk/efo/EFO_1000874 commensal Clostridium infectious disease 'commensal Clostridium infectious disease' SubClassOf 'bacterial disease' 'commensal Clostridium infectious disease' SubClassOf 'bacterial disease' 'commensal Clostridium infectious disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021679 'commensal Clostridium infectious disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024389 http://www.orpha.net/ORDO/Orphanet_217581 Lysosomal disease with hypertrophic cardiomyopathy 'Lysosomal disease with hypertrophic cardiomyopathy' SubClassOf 'Rare familial disorder with hypertrophic cardiomyopathy' 'Lysosomal disease with hypertrophic cardiomyopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024573 'Lysosomal disease with hypertrophic cardiomyopathy' SubClassOf 'Rare familial disorder with hypertrophic cardiomyopathy' 'Lysosomal disease with hypertrophic cardiomyopathy' SubClassOf 'Lysosomal disease' http://www.orpha.net/ORDO/Orphanet_593 Myofibrillar myopathy 'Myofibrillar myopathy' SubClassOf 'Non-dystrophic myopathy' 'Myofibrillar myopathy' SubClassOf 'Non-dystrophic myopathy' 'Myofibrillar myopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002921 http://www.ebi.ac.uk/efo/EFO_1000871 colonic pseudo-obstruction 'colonic pseudo-obstruction' SubClassOf 'intestinal pseudo-obstruction' 'colonic pseudo-obstruction' SubClassOf 'intestinal pseudo-obstruction' http://www.ebi.ac.uk/efo/EFO_1000872 commensal Bacteroidaceae infectious disease 'commensal Bacteroidaceae infectious disease' SubClassOf 'bacterial disease' 'commensal Bacteroidaceae infectious disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021678 'commensal Bacteroidaceae infectious disease' SubClassOf 'bacterial disease' http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndromes 'Congenital myasthenic syndromes' SubClassOf 'Genetic neuromuscular junction disease' 'Congenital myasthenic syndromes' SubClassOf 'Genetic neuromuscular junction disease' 'Congenital myasthenic syndromes' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020169 'Congenital myasthenic syndromes' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 http://www.ebi.ac.uk/efo/EFO_1000870 CNS demyelinating autoimmune disease 'CNS demyelinating autoimmune disease' SubClassOf 'autoimmune disease' 'CNS demyelinating autoimmune disease' SubClassOf 'has_disease_location' some ('central nervous system' or ('part_of' some 'central nervous system')) 'CNS demyelinating autoimmune disease' SubClassOf 'type II hypersensitivity reaction disease' 'CNS demyelinating autoimmune disease' SubClassOf 'autoimmune disease' http://www.ebi.ac.uk/efo/EFO_1000879 corneal edema 'corneal edema' SubClassOf 'corneal disease' 'corneal edema' SubClassOf 'has_disease_location' some ('cornea' or ('part_of' some 'cornea')) 'corneal edema' SubClassOf 'corneal disease' http://www.ebi.ac.uk/efo/EFO_1000877 complex partial epilepsy 'complex partial epilepsy' SubClassOf 'partial epilepsy' 'complex partial epilepsy' SubClassOf 'partial epilepsy' http://www.ebi.ac.uk/efo/EFO_1000878 constrictive pericarditis 'constrictive pericarditis' SubClassOf 'pericarditis' 'constrictive pericarditis' SubClassOf 'pericarditis' http://www.ebi.ac.uk/efo/EFO_1000875 commensal Desulfovibrionaceae infectious disease 'commensal Desulfovibrionaceae infectious disease' SubClassOf 'bacterial disease' 'commensal Desulfovibrionaceae infectious disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021678 'commensal Desulfovibrionaceae infectious disease' SubClassOf 'bacterial disease' http://www.ebi.ac.uk/efo/EFO_1000876 common bile duct neoplasm 'common bile duct neoplasm' SubClassOf 'biliary tract neoplasm' 'common bile duct neoplasm' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021385 'common bile duct neoplasm' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002886 'common bile duct neoplasm' SubClassOf 'biliary tract neoplasm' 'common bile duct neoplasm' SubClassOf 'has_disease_location' some ('bile duct' or ('part_of' some 'bile duct')) http://www.orpha.net/ORDO/Orphanet_217587 Mitochondrial disease with hypertrophic cardiomyopathy 'Mitochondrial disease with hypertrophic cardiomyopathy' SubClassOf 'Rare familial disorder with hypertrophic cardiomyopathy' 'Mitochondrial disease with hypertrophic cardiomyopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024573 'Mitochondrial disease with hypertrophic cardiomyopathy' SubClassOf 'Rare familial disorder with hypertrophic cardiomyopathy' 'Mitochondrial disease with hypertrophic cardiomyopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004069 http://purl.obolibrary.org/obo/CHEBI_90242 caffeic acid 3-sulfate 'caffeic acid 3-sulfate' SubClassOf 'chemical entity' 'caffeic acid 3-sulfate' SubClassOf 'chemical entity' http://www.ebi.ac.uk/efo/EFO_1000884 cranial nerve malignant neoplasm 'cranial nerve malignant neoplasm' SubClassOf 'brain neoplasm' 'cranial nerve malignant neoplasm' SubClassOf 'brain neoplasm' http://www.ebi.ac.uk/efo/EFO_1000885 cutaneous fibrous histiocytoma 'cutaneous fibrous histiocytoma' SubClassOf 'histiocytoma' 'cutaneous fibrous histiocytoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002300 'cutaneous fibrous histiocytoma' SubClassOf 'histiocytoma' 'cutaneous fibrous histiocytoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002989 http://www.ebi.ac.uk/efo/EFO_1000882 coronary stenosis 'coronary stenosis' SubClassOf 'coronary artery disease' 'coronary stenosis' SubClassOf 'coronary artery disease' http://www.ebi.ac.uk/efo/EFO_1000883 coronary thrombosis 'coronary thrombosis' SubClassOf 'coronary artery disease' 'coronary thrombosis' SubClassOf 'coronary artery disease' 'coronary thrombosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000831 http://www.ebi.ac.uk/efo/EFO_0003701 obsolete_parachordal vessel 'obsolete_parachordal vessel' SubClassOf 'obsolete class' 'obsolete_parachordal vessel' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000880 corneal neovascularization 'corneal neovascularization' SubClassOf 'corneal disease' 'corneal neovascularization' SubClassOf 'has_disease_location' some ('cornea' or ('part_of' some 'cornea')) 'corneal neovascularization' SubClassOf 'keratitis' http://www.ebi.ac.uk/efo/EFO_0003702 obsolete_anterior lateral mesoderm 'obsolete_anterior lateral mesoderm' SubClassOf 'obsolete class' 'obsolete_anterior lateral mesoderm' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000881 coronary aneurysm 'coronary aneurysm' SubClassOf 'cardiovascular disease' 'coronary aneurysm' SubClassOf 'coronary artery disease' 'coronary aneurysm' SubClassOf 'cardiovascular disease' http://www.ebi.ac.uk/efo/EFO_0003700 obsolete_rostral blood island 'obsolete_rostral blood island' SubClassOf 'obsolete class' 'obsolete_rostral blood island' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003705 obsolete_posterior lateral plate mesoderm 'obsolete_posterior lateral plate mesoderm' SubClassOf 'obsolete class' 'obsolete_posterior lateral plate mesoderm' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003706 obsolete_trabecular layer 'obsolete_trabecular layer' SubClassOf 'obsolete class' 'obsolete_trabecular layer' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003703 obsolete_posterior lateral mesoderm 'obsolete_posterior lateral mesoderm' SubClassOf 'obsolete class' 'obsolete_posterior lateral mesoderm' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003704 obsolete_anterior lateral plate mesoderm 'obsolete_anterior lateral plate mesoderm' SubClassOf 'obsolete class' 'obsolete_anterior lateral plate mesoderm' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_325004 CANDLE syndrome 'CANDLE syndrome' SubClassOf 'Proteasome disability syndrome' 'CANDLE syndrome' SubClassOf 'Autoinflammatory syndrome with immune deficiency' 'CANDLE syndrome' SubClassOf 'Proteasome disability syndrome' http://purl.obolibrary.org/obo/CHEBI_17519 N-methyl-L-alanine 'N-methyl-L-alanine' SubClassOf 'amino acid' 'N-methyl-L-alanine' SubClassOf 'amino acid' http://www.ebi.ac.uk/efo/EFO_0003709 obsolete_vascular cord 'obsolete_vascular cord' SubClassOf 'obsolete class' 'obsolete_vascular cord' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000888 cystic lymphangioma 'cystic lymphangioma' SubClassOf 'neoplasm' 'cystic lymphangioma' SubClassOf 'neoplasm' 'cystic lymphangioma' SubClassOf 'has_disease_location' some ('lymphoid tissue' or ('part_of' some 'lymphoid tissue')) 'cystic lymphangioma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002013 http://www.ebi.ac.uk/efo/EFO_1000889 cystic, mucinous, and serous neoplasm 'cystic, mucinous, and serous neoplasm' SubClassOf 'neoplasm' 'cystic, mucinous, and serous neoplasm' SubClassOf 'neoplasm' 'cystic, mucinous, and serous neoplasm' SubClassOf 'epithelial neoplasm' http://www.ebi.ac.uk/efo/EFO_0003707 obsolete_atrioventricular ring 'obsolete_atrioventricular ring' SubClassOf 'obsolete class' 'obsolete_atrioventricular ring' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000886 cutaneous mastocytosis 'cutaneous mastocytosis' SubClassOf 'skin neoplasm' 'cutaneous mastocytosis' SubClassOf 'skin neoplasm' http://www.ebi.ac.uk/efo/EFO_0003708 obsolete_primordial vasculature 'obsolete_primordial vasculature' SubClassOf 'obsolete class' 'obsolete_primordial vasculature' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000887 cutaneous syphilis 'cutaneous syphilis' SubClassOf 'skin disease' 'cutaneous syphilis' SubClassOf 'syphilis' 'cutaneous syphilis' SubClassOf 'has_disease_location' some ('zone of skin' or ('part_of' some 'zone of skin')) 'cutaneous syphilis' SubClassOf 'syphilis' 'cutaneous syphilis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024295 http://www.orpha.net/ORDO/Orphanet_254525 Paternal 14q32.2 microdeletion syndrome 'Paternal 14q32.2 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 14' 'Paternal 14q32.2 microdeletion syndrome' SubClassOf 'Motor developmental delay due to 14q32.2 paternally expressed gene defect' 'Paternal 14q32.2 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 14' 'Paternal 14q32.2 microdeletion syndrome' SubClassOf 'Motor developmental delay due to 14q32.2 paternally expressed gene defect' http://www.ebi.ac.uk/efo/EFO_1000895 desmoplastic small round cell tumor 'desmoplastic small round cell tumor' SubClassOf 'neoplasm' 'desmoplastic small round cell tumor' SubClassOf 'small cell sarcoma' 'desmoplastic small round cell tumor' SubClassOf 'neoplasm' 'desmoplastic small round cell tumor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015683 'desmoplastic small round cell tumor' SubClassOf 'soft tissue sarcoma' http://www.ebi.ac.uk/efo/EFO_1000896 diabetic angiopathy 'diabetic angiopathy' SubClassOf 'peripheral vascular disease' 'diabetic angiopathy' SubClassOf http://purl.obolibrary.org/obo/RO_0004022 some 'type II diabetes mellitus' 'diabetic angiopathy' SubClassOf 'peripheral vascular disease' http://www.ebi.ac.uk/efo/EFO_1000893 denture stomatitis 'denture stomatitis' SubClassOf 'stomatitis' 'denture stomatitis' SubClassOf 'has_disease_location' some ('mouth' or ('part_of' some 'mouth')) 'denture stomatitis' SubClassOf 'stomatitis' http://www.ebi.ac.uk/efo/EFO_1000894 dermoid cyst 'dermoid cyst' SubClassOf 'skin neoplasm' 'dermoid cyst' SubClassOf 'skin neoplasm' http://www.ebi.ac.uk/efo/EFO_1000891 De Quervain disease 'De Quervain disease' SubClassOf 'bone disease' 'De Quervain disease' SubClassOf 'joint disease' 'De Quervain disease' SubClassOf 'bone disease' http://www.ebi.ac.uk/efo/EFO_1000892 dental fluorosis 'dental fluorosis' SubClassOf 'tooth disease' 'dental fluorosis' SubClassOf 'tooth disease' 'dental fluorosis' SubClassOf 'has_disease_location' some ('tooth' or ('part_of' some 'tooth')) http://www.ebi.ac.uk/efo/EFO_1000890 Dandy-Walker syndrome 'Dandy-Walker syndrome' SubClassOf 'brain disease' 'Dandy-Walker syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020134 'Dandy-Walker syndrome' SubClassOf 'brain disease' 'Dandy-Walker syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020130 'Dandy-Walker syndrome' SubClassOf 'Rare genetic neurological disorder' 'Dandy-Walker syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002427 http://www.ebi.ac.uk/efo/EFO_1000899 diastolic heart failure 'diastolic heart failure' SubClassOf 'congestive heart failure' 'diastolic heart failure' SubClassOf 'congestive heart failure' http://www.ebi.ac.uk/efo/EFO_1000897 diabetic ketoacidosis 'diabetic ketoacidosis' SubClassOf 'diabetes mellitus' 'diabetic ketoacidosis' SubClassOf 'diabetes mellitus' 'diabetic ketoacidosis' SubClassOf 'Inborn errors of metabolism' 'diabetic ketoacidosis' SubClassOf 'type II diabetes mellitus' http://www.ebi.ac.uk/efo/EFO_1000898 diaphragmatic eventration 'diaphragmatic eventration' SubClassOf 'genetic disorder' 'diaphragmatic eventration' SubClassOf 'diaphragm disease' 'diaphragmatic eventration' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_254519 Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect 'Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 http://www.orpha.net/ORDO/Orphanet_254516 Motor developmental delay due to 14q32.2 paternally expressed gene defect 'Motor developmental delay due to 14q32.2 paternally expressed gene defect' SubClassOf 'Syndromic obesity' 'Motor developmental delay due to 14q32.2 paternally expressed gene defect' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Motor developmental delay due to 14q32.2 paternally expressed gene defect' SubClassOf 'Syndromic obesity' 'Motor developmental delay due to 14q32.2 paternally expressed gene defect' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 http://purl.obolibrary.org/obo/GO_0050789 regulation of biological process 'regulation of biological process' SubClassOf 'regulates' some 'biological process' http://www.orpha.net/ORDO/Orphanet_156071 Keratoconus 'Keratoconus' SubClassOf 'corneal disease' 'Keratoconus' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Keratoconus' SubClassOf 'corneal disease' http://www.ebi.ac.uk/efo/EFO_0003720 obsolete_liver (Rattus norvegicus) 'obsolete_liver (Rattus norvegicus)' SubClassOf 'obsolete class' 'obsolete_liver (Rattus norvegicus)' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003723 obsolete_kidney (Homo sapiens) 'obsolete_kidney (Homo sapiens)' SubClassOf 'obsolete class' 'obsolete_kidney (Homo sapiens)' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/HP_0000238 Hydrocephalus 'Hydrocephalus' SubClassOf 'abnormality of brain morphology' 'Hydrocephalus' SubClassOf 'abnormality of brain morphology' http://www.ebi.ac.uk/efo/EFO_0003724 obsolete_kidney (Mus musculus) 'obsolete_kidney (Mus musculus)' SubClassOf 'obsolete class' 'obsolete_kidney (Mus musculus)' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003721 obsolete_liver (Rattus rattus) 'obsolete_liver (Rattus rattus)' SubClassOf 'obsolete class' 'obsolete_liver (Rattus rattus)' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003722 obsolete_kidney (Bos taurus) 'obsolete_kidney (Bos taurus)' SubClassOf 'obsolete class' 'obsolete_kidney (Bos taurus)' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003727 obsolete_kidney (Rattus norvegicus) 'obsolete_kidney (Rattus norvegicus)' SubClassOf 'obsolete class' 'obsolete_kidney (Rattus norvegicus)' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003728 obsolete_kidney (Rattus rattus) 'obsolete_kidney (Rattus rattus)' SubClassOf 'obsolete class' 'obsolete_kidney (Rattus rattus)' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003725 obsolete_kidney (Pan troglodytes) 'obsolete_kidney (Pan troglodytes)' SubClassOf 'obsolete class' 'obsolete_kidney (Pan troglodytes)' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003726 obsolete_kidney (Pongon pygmaeus) 'obsolete_kidney (Pongon pygmaeus)' SubClassOf 'obsolete class' 'obsolete_kidney (Pongon pygmaeus)' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/CLO_0031519 GM14506 'GM14506' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM14506' SubClassOf 'cultured cell' 'GM14506' SubClassOf 'has_quality' some 'female' http://purl.obolibrary.org/obo/CLO_0031517 GM14507 'GM14507' SubClassOf 'has_quality' some 'female' 'GM14507' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM14507' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0003729 obsolete_lung (Bos taurus) 'obsolete_lung (Bos taurus)' SubClassOf 'obsolete class' 'obsolete_lung (Bos taurus)' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/CLO_0031516 GM14504 'GM14504' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM14504' SubClassOf 'cultured cell' 'GM14504' SubClassOf 'has_quality' some 'female' http://www.orpha.net/ORDO/Orphanet_228277 Familial anetoderma 'Familial anetoderma' SubClassOf 'Genetic dermis elastic tissue disorder' 'Familial anetoderma' SubClassOf 'Genetic dermis elastic tissue disorder' http://purl.obolibrary.org/obo/GO_0050794 regulation of cellular process 'regulation of cellular process' SubClassOf 'regulates' some 'cellular process' http://purl.obolibrary.org/obo/HP_0012234 agranulocytosis 'agranulocytosis' EquivalentTo 'has part' some ('decreased concentration' and ('inheres_in' some 'granulocyte') and ('has component' some 'abnormal')) http://purl.obolibrary.org/obo/HP_0000248 Brachycephaly 'Brachycephaly' SubClassOf 'Abnormality of the skull' 'Brachycephaly' SubClassOf 'Abnormality of the skull' http://www.ebi.ac.uk/efo/EFO_0003712 obsolete_liver (Bos taurus) 'obsolete_liver (Bos taurus)' SubClassOf 'obsolete class' 'obsolete_liver (Bos taurus)' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/CLO_0031510 GM14502 'GM14502' SubClassOf 'cultured cell' 'GM14502' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM14502' SubClassOf 'has_quality' some 'female' http://www.ebi.ac.uk/efo/EFO_0003713 obsolete_liver (Gallus gallus) 'obsolete_liver (Gallus gallus)' SubClassOf 'obsolete class' 'obsolete_liver (Gallus gallus)' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003710 obsolete_anterior lateral line primordium 'obsolete_anterior lateral line primordium' SubClassOf 'obsolete class' 'obsolete_anterior lateral line primordium' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003711 obsolete_Rohon-Beard neuron 'obsolete_Rohon-Beard neuron' SubClassOf 'obsolete class' 'obsolete_Rohon-Beard neuron' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/CLO_0031504 GM14501 'GM14501' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM14501' SubClassOf 'cultured cell' 'GM14501' SubClassOf 'has_quality' some 'female' http://www.ebi.ac.uk/efo/EFO_0003716 obsolete_liver (Macaca mulatta) 'obsolete_liver (Macaca mulatta)' SubClassOf 'obsolete class' 'obsolete_liver (Macaca mulatta)' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/HP_0000256 Macrocephaly 'Macrocephaly' SubClassOf 'Abnormality of the skull' 'Macrocephaly' SubClassOf 'Abnormality of the skull' http://www.ebi.ac.uk/efo/EFO_0003717 obsolete_liver (Mus musculus) 'obsolete_liver (Mus musculus)' SubClassOf 'obsolete class' 'obsolete_liver (Mus musculus)' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003714 obsolete_liver (Homo sapiens) 'obsolete_liver (Homo sapiens)' SubClassOf 'obsolete class' 'obsolete_liver (Homo sapiens)' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003715 obsolete_liver (Macaca fascicularis) 'obsolete_liver (Macaca fascicularis)' SubClassOf 'obsolete class' 'obsolete_liver (Macaca fascicularis)' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003718 obsolete_liver (Pan troglodytes) 'obsolete_liver (Pan troglodytes)' SubClassOf 'obsolete class' 'obsolete_liver (Pan troglodytes)' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003719 obsolete_liver (Pongo pygmaeus) 'obsolete_liver (Pongo pygmaeus)' SubClassOf 'obsolete class' 'obsolete_liver (Pongo pygmaeus)' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/CLO_0031509 GM14503 'GM14503' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM14503' SubClassOf 'cultured cell' 'GM14503' SubClassOf 'has_quality' some 'female' http://www.ebi.ac.uk/efo/EFO_0003741 pooled clone sequencing 'pooled clone sequencing' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'pooled clone sequencing' SubClassOf 'has_participant' some 'high throughput sequencer' http://www.ebi.ac.uk/efo/EFO_0003742 clone by clone sequencing 'clone by clone sequencing' SubClassOf 'has_participant' some 'sequencer' 'clone by clone sequencing' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0003740 assay by sequencer 'assay by sequencer' EquivalentTo 'has_participant' some 'sequencer' http://www.ebi.ac.uk/efo/EFO_0003745 random chromosome sequencing 'random chromosome sequencing' SubClassOf 'has_participant' some 'sequencer' 'random chromosome sequencing' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0003746 random exon sequencing 'random exon sequencing' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'random exon sequencing' SubClassOf 'has_participant' some 'sequencer' http://www.ebi.ac.uk/efo/EFO_0003743 clone end sequencing 'clone end sequencing' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'clone end sequencing' SubClassOf 'has_participant' some 'sequencer' http://www.ebi.ac.uk/efo/EFO_0003744 whole genome shotgun sequencing 'whole genome shotgun sequencing' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'whole genome shotgun sequencing' SubClassOf 'has_participant' some 'sequencer' http://www.orpha.net/ORDO/Orphanet_183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency 'Recurrent infections associated with rare immunoglobulin isotypes deficiency' SubClassOf 'Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells' 'Recurrent infections associated with rare immunoglobulin isotypes deficiency' SubClassOf 'Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells' http://www.ebi.ac.uk/efo/EFO_0003749 MeDIP-seq 'MeDIP-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'MeDIP-seq' SubClassOf 'has_participant' some 'high throughput sequencer' http://www.orpha.net/ORDO/Orphanet_183666 Hyper-IgM syndrome without susceptibility to opportunistic infections 'Hyper-IgM syndrome without susceptibility to opportunistic infections' SubClassOf 'Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells' 'Hyper-IgM syndrome without susceptibility to opportunistic infections' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003947 'Hyper-IgM syndrome with susceptibility to opportunistic infections' DisjointWith 'Hyper-IgM syndrome without susceptibility to opportunistic infections' 'Hyper-IgM syndrome without susceptibility to opportunistic infections' SubClassOf 'Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells' http://purl.obolibrary.org/obo/HP_0000268 Dolichocephaly 'Dolichocephaly' SubClassOf 'Abnormality of the skull' 'Dolichocephaly' SubClassOf 'Abnormality of the skull' http://www.ebi.ac.uk/efo/EFO_0003747 amplicon sequencing 'amplicon sequencing' SubClassOf 'realizes' some (('analyte role' and ('role_of' some 'DNA')) or ('analyte role' and ('role_of' some 'RNA'))) 'amplicon sequencing' SubClassOf 'has_participant' some 'sequencer' http://www.ebi.ac.uk/efo/EFO_0003748 MRE-seq 'MRE-seq' SubClassOf 'has_participant' some 'sequencer' 'MRE-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.orpha.net/ORDO/Orphanet_183669 Agammaglobulinemia 'Agammaglobulinemia' SubClassOf 'Immunodeficiency predominantly affecting antibody production' 'Agammaglobulinemia' SubClassOf 'Immunodeficiency predominantly affecting antibody production' 'Agammaglobulinemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002211 http://www.orpha.net/ORDO/Orphanet_171690 Metabolic myopathy due to lactate transporter defect 'Metabolic myopathy due to lactate transporter defect' SubClassOf 'Metabolic myopathy' 'Metabolic myopathy due to lactate transporter defect' SubClassOf 'Metabolic myopathy' http://www.orpha.net/ORDO/Orphanet_171695 Parkinsonian-pyramidal syndrome 'Parkinsonian-pyramidal syndrome' SubClassOf 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' 'Parkinsonian-pyramidal syndrome' SubClassOf 'Young adult-onset Parkinsonism' http://www.ebi.ac.uk/efo/EFO_0003730 obsolete_lung (Gallus gallus) 'obsolete_lung (Gallus gallus)' SubClassOf 'obsolete class' 'obsolete_lung (Gallus gallus)' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003731 obsolete_lung (Homo sapiens) 'obsolete_lung (Homo sapiens)' SubClassOf 'obsolete class' 'obsolete_lung (Homo sapiens)' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_183681 Functional neutrophil defect 'Functional neutrophil defect' SubClassOf 'Primary immunodeficiency due to a defect in innate immunity' 'Functional neutrophil defect' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015133 http://purl.obolibrary.org/obo/CHEBI_7939 parthenolide 'parthenolide' SubClassOf ('has_role' some 'non-steroidal anti-inflammatory drug') and ('has_role' some 'non-narcotic analgesic') http://www.ebi.ac.uk/efo/EFO_0003734 obsolete_lung (Rattus norvegicus) 'obsolete_lung (Rattus norvegicus)' SubClassOf 'obsolete class' 'obsolete_lung (Rattus norvegicus)' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003735 obsolete_lung (Rattus rattus) 'obsolete_lung (Rattus rattus)' SubClassOf 'obsolete class' 'obsolete_lung (Rattus rattus)' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003732 obsolete_lung (Macaca fascicularis) 'obsolete_lung (Macaca fascicularis)' SubClassOf 'obsolete class' 'obsolete_lung (Macaca fascicularis)' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003733 obsolete_lung (Mus musculus) 'obsolete_lung (Mus musculus)' SubClassOf 'obsolete class' 'obsolete_lung (Mus musculus)' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003736 obsolete_lung (Sus scrofa) 'obsolete_lung (Sus scrofa)' SubClassOf 'obsolete class' 'obsolete_lung (Sus scrofa)' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_183678 Hermansky-Pudlak syndrome with neutropenia 'Hermansky-Pudlak syndrome with neutropenia' SubClassOf 'Unclassified primitive or secondary maculopathy' 'Hermansky-Pudlak syndrome with neutropenia' SubClassOf 'Hermansky-Pudlak syndrome' 'Hermansky-Pudlak syndrome with neutropenia' SubClassOf 'Constitutional neutropenia with extra-haematopoietic manifestations' 'Hermansky-Pudlak syndrome with neutropenia' SubClassOf 'Immunodeficiency syndrome with hypopigmentation' 'Hermansky-Pudlak syndrome with neutropenia' SubClassOf 'Unclassified primitive or secondary maculopathy' 'Hermansky-Pudlak syndrome with neutropenia' SubClassOf 'Hermansky-Pudlak syndrome' 'Hermansky-Pudlak syndrome with neutropenia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Hermansky-Pudlak syndrome with neutropenia' SubClassOf 'Constitutional neutropenia with extra-haematopoietic manifestations' 'Hermansky-Pudlak syndrome with neutropenia' SubClassOf 'Immunodeficiency syndrome with hypopigmentation' http://www.orpha.net/ORDO/Orphanet_624 Familial multiple nevi flammei 'Familial multiple nevi flammei' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Familial multiple nevi flammei' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016231 'Familial multiple nevi flammei' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019293 'Familial multiple nevi flammei' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021658 http://www.orpha.net/ORDO/Orphanet_622 Homocystinuria without methylmalonic aciduria 'Homocystinuria without methylmalonic aciduria' SubClassOf 'Neurometabolic disease' 'Homocystinuria without methylmalonic aciduria' SubClassOf 'Disorder of methionine cycle and sulfur amino acid metabolism' 'Homocystinuria without methylmalonic aciduria' SubClassOf 'Disorder of cobalamin metabolism and transport' 'Homocystinuria without methylmalonic aciduria' SubClassOf 'Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder' 'Homocystinuria without methylmalonic aciduria' SubClassOf 'Cerebral organic aciduria' 'Methylmalonic acidemia with homocystinuria' DisjointWith 'Homocystinuria without methylmalonic aciduria' 'Homocystinuria without methylmalonic aciduria' SubClassOf 'autosomal recessive disease' 'Homocystinuria without methylmalonic aciduria' SubClassOf 'Neurometabolic disease' 'Homocystinuria without methylmalonic aciduria' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004737 'Homocystinuria without methylmalonic aciduria' SubClassOf 'Disorder of cobalamin metabolism and transport' 'Homocystinuria without methylmalonic aciduria' SubClassOf 'Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder' http://www.orpha.net/ORDO/Orphanet_621 Hereditary methemoglobinemia 'Hereditary methemoglobinemia' SubClassOf 'Hemoglobinopathy' 'Hereditary methemoglobinemia' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Hereditary methemoglobinemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019050 'Hereditary methemoglobinemia' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0001117 and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) 'Hereditary methemoglobinemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001117 'Hereditary methemoglobinemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002280 http://www.orpha.net/ORDO/Orphanet_169464 Primary CD59 deficiency 'Primary CD59 deficiency' SubClassOf 'Rare constitutional hemolytic anemia due to a red cell membrane anomaly' 'Primary CD59 deficiency' SubClassOf 'Genetic peripheral neuropathy' 'Primary CD59 deficiency' SubClassOf 'Rare constitutional hemolytic anemia due to a red cell membrane anomaly' 'Primary CD59 deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018727 'Primary CD59 deficiency' SubClassOf 'Genetic peripheral neuropathy' http://www.orpha.net/ORDO/Orphanet_620 Common mesentery 'Common mesentery' SubClassOf 'Non-syndromic intestinal malformation' 'Common mesentery' SubClassOf 'Non-syndromic intestinal malformation' http://www.ebi.ac.uk/efo/EFO_0002310 OE33 'OE33' SubClassOf 'bearer_of' some 'esophageal carcinoma' 'OE33' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('esophagus' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003642 obsolete_anal fin 'obsolete_anal fin' SubClassOf 'obsolete class' 'obsolete_anal fin' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003643 obsolete_non neural ectoderm 'obsolete_non neural ectoderm' SubClassOf 'obsolete class' 'obsolete_non neural ectoderm' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002312 P3HR1 'P3HR1' SubClassOf 'bearer_of' some 'Burkitts lymphoma' 'P3HR1' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003640 obsolete_tooth 3V 'obsolete_tooth 3V' SubClassOf 'obsolete class' 'obsolete_tooth 3V' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002311 OV90 'OV90' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('female gonad' and ('part_of' some 'Homo sapiens')))) 'OV90' SubClassOf 'bearer_of' some 'ovarian serous adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0003641 obsolete_posterior lateral line primordium 'obsolete_posterior lateral line primordium' SubClassOf 'obsolete class' 'obsolete_posterior lateral line primordium' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_183770 Rare genetic immune disease 'Rare genetic immune disease' SubClassOf 'has_disease_location' some 'immune system' http://www.ebi.ac.uk/efo/EFO_0002314 RCHACV 'RCHACV' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'RCHACV' SubClassOf 'bearer_of' some 'acute lymphoblastic leukemia' http://www.ebi.ac.uk/efo/EFO_0003646 obsolete_corpuscles of Stannius 'obsolete_corpuscles of Stannius' SubClassOf 'obsolete class' 'obsolete_corpuscles of Stannius' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002313 PLB985 'PLB985' SubClassOf 'bearer_of' some 'acute myeloid leukemia' 'PLB985' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003647 obsolete_axial mesoderm 'obsolete_axial mesoderm' SubClassOf 'obsolete class' 'obsolete_axial mesoderm' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002316 RDES 'RDES' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('bone' and ('part_of' some 'Homo sapiens')))) 'RDES' SubClassOf 'bearer_of' some 'osteosarcoma' http://www.ebi.ac.uk/efo/EFO_0003644 obsolete_pelvic fin 'obsolete_pelvic fin' SubClassOf 'obsolete class' 'obsolete_pelvic fin' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_169467 Recurrent Neisseria infections due to factor D deficiency 'Recurrent Neisseria infections due to factor D deficiency' SubClassOf 'Immunodeficiency due to a complement cascade protein anomaly' 'Recurrent Neisseria infections due to factor D deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018727 http://www.ebi.ac.uk/efo/EFO_0002315 RD 'RD' SubClassOf 'bearer_of' some 'rhabdomyosarcoma' 'RD' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('musculature' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003645 obsolete_cranial neural crest 'obsolete_cranial neural crest' SubClassOf 'obsolete class' 'obsolete_cranial neural crest' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002318 RKOE6 'RKOE6' SubClassOf 'cancer cell line' 'RKOE6' SubClassOf 'colorectal cancer cell line' 'RKOE6' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('colon' and ('part_of' some 'Homo sapiens')))) 'RKOE6' SubClassOf 'bearer_of' some 'colorectal adenocarcinoma' http://www.orpha.net/ORDO/Orphanet_156156 Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy 'Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy' SubClassOf 'Genetic lipodystrophy' 'Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy' SubClassOf 'Genetic lipodystrophy' http://www.ebi.ac.uk/efo/EFO_0002317 REC1 'REC1' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'REC1' SubClassOf 'bearer_of' some 'lymphoid neoplasm' http://www.ebi.ac.uk/efo/EFO_0003648 obsolete_epibranchial 5 'obsolete_epibranchial 5' SubClassOf 'obsolete class' 'obsolete_epibranchial 5' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002319 RL 'RL' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'RL' SubClassOf 'bearer_of' some 'lymphoma' http://www.ebi.ac.uk/efo/EFO_0003649 obsolete_lateral floor plate 'obsolete_lateral floor plate' SubClassOf 'obsolete class' 'obsolete_lateral floor plate' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_618 Familial melanoma 'Familial melanoma' SubClassOf 'melanoma' 'Familial melanoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0025511 'Familial melanoma' EquivalentTo 'melanoma' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) http://www.orpha.net/ORDO/Orphanet_617 Congenital primary megaureter 'Congenital primary megaureter' SubClassOf 'Genetic non-syndromic renal or urinary tract malformation' 'Congenital primary megaureter' SubClassOf 'Genetic non-syndromic renal or urinary tract malformation' 'Congenital primary megaureter' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015934 http://www.orpha.net/ORDO/Orphanet_156159 Isolated dystonia 'Isolated dystonia' SubClassOf 'Rare genetic dystonia' 'Isolated dystonia' SubClassOf 'Rare genetic dystonia' 'Isolated dystonia' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021128 'Isolated dystonia' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0003441 and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021128) http://www.orpha.net/ORDO/Orphanet_615 Familial atrial myxoma 'Familial atrial myxoma' SubClassOf 'Genetic cardiac tumor' 'Familial atrial myxoma' SubClassOf 'Genetic cardiac tumor' http://www.orpha.net/ORDO/Orphanet_614 Thomsen and Becker disease 'Thomsen and Becker disease' SubClassOf 'Congenital myotonia' 'Thomsen and Becker disease' SubClassOf 'muscular channelopathy' 'Thomsen and Becker disease' SubClassOf 'Congenital myotonia' 'Thomsen and Becker disease' SubClassOf 'Congenital myopathy' http://www.orpha.net/ORDO/Orphanet_634 Netherton syndrome 'Netherton syndrome' SubClassOf 'Eyebrow/eyelashes structural anomaly' 'Netherton syndrome' SubClassOf 'Ichthyosis associated with ocular features' 'Netherton syndrome' SubClassOf 'Autosomal ichthyosis syndrome with prominent hair abnormalities' 'Netherton syndrome' SubClassOf 'Eyebrow/eyelashes structural anomaly' 'Netherton syndrome' SubClassOf 'Autosomal recessive congenital ichthyosis' 'Netherton syndrome' SubClassOf 'Syndromic ichthyosis associated with ocular features' 'Netherton syndrome' SubClassOf 'Hyper-IgE syndrome' 'Netherton syndrome' SubClassOf 'Autosomal ichthyosis syndrome with prominent hair abnormalities' http://www.orpha.net/ORDO/Orphanet_633 Laron syndrome 'Laron syndrome' SubClassOf 'Growth hormone insensitivity syndrome' 'Laron syndrome' SubClassOf 'autosomal recessive disease' 'Laron syndrome' SubClassOf 'Growth hormone insensitivity syndrome' http://www.orpha.net/ORDO/Orphanet_632 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 'Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia' SubClassOf 'Isolated growth hormone deficiency type III' 'Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia' SubClassOf 'Isolated growth hormone deficiency type III' 'Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia' SubClassOf 'Agammaglobulinemia' http://www.ebi.ac.uk/efo/EFO_0003631 obsolete_pharyngeal pouch 1 'obsolete_pharyngeal pouch 1' SubClassOf 'obsolete class' 'obsolete_pharyngeal pouch 1' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003632 obsolete_pharyngeal pouches 2-6 'obsolete_pharyngeal pouches 2-6' SubClassOf 'obsolete class' 'obsolete_pharyngeal pouches 2-6' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_32960 Tumor necrosis factor receptor 1 associated periodic syndrome 'Tumor necrosis factor receptor 1 associated periodic syndrome' SubClassOf 'Hereditary periodic fever syndrome' 'Tumor necrosis factor receptor 1 associated periodic syndrome' SubClassOf 'Autoinflammatory syndrome with immune deficiency' 'Tumor necrosis factor receptor 1 associated periodic syndrome' SubClassOf 'Hereditary periodic fever syndrome' 'Tumor necrosis factor receptor 1 associated periodic syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017370 'Tumor necrosis factor receptor 1 associated periodic syndrome' SubClassOf 'Autoinflammatory syndrome with immune deficiency' http://www.ebi.ac.uk/efo/EFO_0002301 NCI-H716 'NCI-H716' SubClassOf 'cancer cell line' 'NCI-H716' SubClassOf 'bearer_of' some 'colorectal adenocarcinoma' 'NCI-H716' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('colon' and ('part_of' some 'Homo sapiens')))) 'NCI-H716' SubClassOf 'colorectal cancer cell line' http://www.ebi.ac.uk/efo/EFO_0002300 NCI-H69 'NCI-H69' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) 'NCI-H69' SubClassOf 'bearer_of' some 'small cell lung carcinoma' 'NCI-H69' SubClassOf 'derives_from' some 'European' 'NCI-H69' SubClassOf 'bearer_of' some 'lung carcinoma' http://www.ebi.ac.uk/efo/EFO_0003630 obsolete_urogenital papilla 'obsolete_urogenital papilla' SubClassOf 'obsolete class' 'obsolete_urogenital papilla' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002303 NCI-H747 'NCI-H747' SubClassOf 'cancer cell line' 'NCI-H747' SubClassOf 'colorectal cancer cell line' 'NCI-H747' SubClassOf 'bearer_of' some 'colorectal adenocarcinoma' 'NCI-H747' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('colon' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003635 obsolete_pharyngeal pouch 6 'obsolete_pharyngeal pouch 6' SubClassOf 'obsolete class' 'obsolete_pharyngeal pouch 6' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002302 NCI-H720 'NCI-H720' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003636 obsolete_pharyngeal pouch 5 'obsolete_pharyngeal pouch 5' SubClassOf 'obsolete class' 'obsolete_pharyngeal pouch 5' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002305 NCI-H810 'NCI-H810' SubClassOf 'bearer_of' some 'lung carcinoma' 'NCI-H810' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003633 obsolete_pharyngeal pouch 2 'obsolete_pharyngeal pouch 2' SubClassOf 'obsolete class' 'obsolete_pharyngeal pouch 2' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002304 NCI-H748 'NCI-H748' SubClassOf 'bearer_of' some 'small cell lung carcinoma' 'NCI-H748' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003634 obsolete_pharyngeal pouch 3 'obsolete_pharyngeal pouch 3' SubClassOf 'obsolete class' 'obsolete_pharyngeal pouch 3' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002307 NCI-H838 'NCI-H838' SubClassOf 'bearer_of' some 'lung adenocarcinoma' 'NCI-H838' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003639 obsolete_tooth 4V 'obsolete_tooth 4V' SubClassOf 'obsolete class' 'obsolete_tooth 4V' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002306 NCI-H82 'NCI-H82' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) 'NCI-H82' SubClassOf 'bearer_of' some 'lung carcinoma' http://www.ebi.ac.uk/efo/EFO_0002309 OE21 'OE21' SubClassOf 'bearer_of' some 'esophageal carcinoma' 'OE21' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('esophagus' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003637 obsolete_pharyngeal pouch 4 'obsolete_pharyngeal pouch 4' SubClassOf 'obsolete class' 'obsolete_pharyngeal pouch 4' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002308 OE19 'OE19' SubClassOf 'bearer_of' some 'esophageal carcinoma' 'OE19' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('esophagus' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003638 obsolete_tooth 5V 'obsolete_tooth 5V' SubClassOf 'obsolete class' 'obsolete_tooth 5V' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_629 Short stature due to growth hormone qualitative anomaly 'Short stature due to growth hormone qualitative anomaly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000050 http://www.orpha.net/ORDO/Orphanet_628 Diastrophic dwarfism 'Diastrophic dwarfism' SubClassOf 'Sulfation-related bone disorder' 'Diastrophic dwarfism' SubClassOf 'Primary bone dysplasia with micromelia' 'Diastrophic dwarfism' SubClassOf 'Sulfation-related bone disorder' 'Diastrophic dwarfism' SubClassOf 'osteochondrodysplasia' 'Diastrophic dwarfism' SubClassOf 'Primary bone dysplasia with micromelia' http://purl.obolibrary.org/obo/GO_0097331 response to cytarabine 'response to cytarabine' SubClassOf 'is_about' some 'cytarabine' http://www.orpha.net/ORDO/Orphanet_627 Nance-Horan syndrome 'Nance-Horan syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Nance-Horan syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Nance-Horan syndrome' SubClassOf 'Dentocutaneous disease with cataract' 'Nance-Horan syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Nance-Horan syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Nance-Horan syndrome' SubClassOf 'Dentocutaneous disease with cataract' 'Nance-Horan syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007 'Nance-Horan syndrome' SubClassOf 'Rare genetic systemic or rheumatologic disease' http://www.orpha.net/ORDO/Orphanet_646 Niemann-Pick disease type C 'Niemann-Pick disease type C' SubClassOf 'Niemann-Pick disease' 'Niemann-Pick disease type C' SubClassOf 'Neurometabolic disease' 'Niemann-Pick disease type C' SubClassOf 'Niemann-Pick disease' 'Niemann-Pick disease type C' SubClassOf 'Neurometabolic disease' 'Niemann-Pick disease type C' SubClassOf 'Supranuclear oculomotor palsy' 'Niemann-Pick disease type C' SubClassOf 'Monogenic disease with epilepsy' 'Niemann-Pick disease type C' SubClassOf 'Unclassified primitive or secondary maculopathy' 'Niemann-Pick disease type C' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017037 'Niemann-Pick disease type C' SubClassOf 'realized_in' some ('disease course' and ('has part' some 'microtubule-associated protein tau')) 'Niemann-Pick disease type C' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018299 'Niemann-Pick disease type C' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020143 http://www.orpha.net/ORDO/Orphanet_644 NARP syndrome 'NARP syndrome' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' 'NARP syndrome' SubClassOf 'Neurometabolic disease' 'NARP syndrome' SubClassOf 'Mitochondrial disease with eye involvement' 'NARP syndrome' SubClassOf 'Metabolic disease with pigmentary retinitis' 'NARP syndrome' SubClassOf 'Mitochondrial disease with peripheral neuropathy' 'NARP syndrome' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' 'NARP syndrome' SubClassOf 'Neurometabolic disease' 'NARP syndrome' SubClassOf 'Mitochondrial disease with eye involvement' 'NARP syndrome' SubClassOf 'Metabolic disease with pigmentary retinitis' 'NARP syndrome' SubClassOf 'Mitochondrial disease with peripheral neuropathy' 'NARP syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016402 http://www.orpha.net/ORDO/Orphanet_643 Giant axonal neuropathy 'Giant axonal neuropathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004183 http://www.ebi.ac.uk/efo/EFO_0003660 obsolete_ventral mandibular arch 'obsolete_ventral mandibular arch' SubClassOf 'obsolete class' 'obsolete_ventral mandibular arch' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004991 Myasthenia gravis 'Myasthenia gravis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000774 'Myasthenia gravis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044977 'Myasthenia gravis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021016 'Myasthenia gravis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018743 http://www.orpha.net/ORDO/Orphanet_642 Hereditary sensory and autonomic neuropathy type 4 'Hereditary sensory and autonomic neuropathy type 4' SubClassOf 'Autosomal recessive hereditary sensory and autonomic neuropathy' 'Hereditary sensory and autonomic neuropathy type 4' SubClassOf 'Autosomal recessive hereditary sensory and autonomic neuropathy' http://www.ebi.ac.uk/efo/EFO_0003661 obsolete_branchiostegal ray 1 'obsolete_branchiostegal ray 1' SubClassOf 'obsolete class' 'obsolete_branchiostegal ray 1' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004992 Otitis media 'Otitis media' SubClassOf 'auditory system disease' 'Otitis media' SubClassOf 'head and neck disorder' 'Otitis media' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021166 'Otitis media' SubClassOf 'has_disease_location' some 'middle ear' 'Otitis media' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003276 http://www.ebi.ac.uk/efo/EFO_0002330 SJSA1 'SJSA1' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('bone' and ('part_of' some 'Homo sapiens')))) 'SJSA1' SubClassOf 'bearer_of' some 'osteosarcoma' http://www.orpha.net/ORDO/Orphanet_640 Hereditary neuropathy with liability to pressure palsies 'Hereditary neuropathy with liability to pressure palsies' SubClassOf 'Autosomal dominant hereditary demyelinating motor and sensory neuropathy' 'Hereditary neuropathy with liability to pressure palsies' SubClassOf 'Partial monosomy of the short arm of chromosome 17' 'Hereditary neuropathy with liability to pressure palsies' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Hereditary neuropathy with liability to pressure palsies' SubClassOf 'Autosomal dominant hereditary demyelinating motor and sensory neuropathy' 'Hereditary neuropathy with liability to pressure palsies' SubClassOf 'Partial monosomy of the short arm of chromosome 17' http://www.ebi.ac.uk/efo/EFO_0004990 J1 'J1' SubClassOf 'derives_from' some ('cell type' and ('part_of' some (('embryo' or 'embryonic structure') and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_0002332 SKMEL1 'SKMEL1' SubClassOf 'bearer_of' some 'melanoma' 'SKMEL1' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('zone of skin' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003664 obsolete_intersegmental vessel 'obsolete_intersegmental vessel' SubClassOf 'obsolete class' 'obsolete_intersegmental vessel' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002331 SKLMS1 'SKLMS1' SubClassOf 'bearer_of' some 'vulva sarcoma' 'SKLMS1' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('mammalian vulva' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003665 obsolete_caudal vein plexus 'obsolete_caudal vein plexus' SubClassOf 'obsolete class' 'obsolete_caudal vein plexus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004996 type 1 diabetes nephropathy 'type 1 diabetes nephropathy' SubClassOf 'diabetic nephropathy' 'type 1 diabetes nephropathy' SubClassOf 'diabetic nephropathy' 'type 1 diabetes nephropathy' SubClassOf http://purl.obolibrary.org/obo/RO_0004022 some 'type I diabetes mellitus' 'type 1 diabetes nephropathy' EquivalentTo 'diabetic nephropathy' and (http://purl.obolibrary.org/obo/RO_0004022 some 'type I diabetes mellitus') 'type 1 diabetes nephropathy' SubClassOf 'type II hypersensitivity reaction disease' http://www.ebi.ac.uk/efo/EFO_0002334 SKMES1 'SKMES1' SubClassOf 'bearer_of' some 'squamous cell carcinoma' 'SKMES1' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003662 obsolete_branchiostegal ray 3 'obsolete_branchiostegal ray 3' SubClassOf 'obsolete class' 'obsolete_branchiostegal ray 3' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004993 serum IgM measurement 'serum IgM measurement' SubClassOf 'is_about' some 'macroglobulinemia' http://www.orpha.net/ORDO/Orphanet_363396 High myopia-sensorineural deafness syndrome 'High myopia-sensorineural deafness syndrome' SubClassOf 'Syndromic genetic deafness' 'High myopia-sensorineural deafness syndrome' SubClassOf 'Syndromic myopia' 'High myopia-sensorineural deafness syndrome' SubClassOf 'Syndromic genetic deafness' 'High myopia-sensorineural deafness syndrome' SubClassOf 'Syndromic myopia' http://www.ebi.ac.uk/efo/EFO_0002333 SKMEL3 'SKMEL3' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('zone of skin' and ('part_of' some 'Homo sapiens')))) 'SKMEL3' SubClassOf 'bearer_of' some 'melanoma' http://www.ebi.ac.uk/efo/EFO_0003663 obsolete_branchiostegal ray 2 'obsolete_branchiostegal ray 2' SubClassOf 'obsolete class' 'obsolete_branchiostegal ray 2' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004994 lumbar disc degeneration 'lumbar disc degeneration' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024236 'lumbar disc degeneration' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003847 http://www.ebi.ac.uk/efo/EFO_0002336 obsolete_SKNDZ 'obsolete_SKNDZ' SubClassOf 'obsolete class' 'obsolete_SKNDZ' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003668 obsolete_ciliary marginal zone 'obsolete_ciliary marginal zone' SubClassOf 'obsolete class' 'obsolete_ciliary marginal zone' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004999 N-glycan measurement 'N-glycan measurement' SubClassOf 'is_about' some 'polysaccharide' http://www.ebi.ac.uk/efo/EFO_0002335 obsolete_SKNAS 'obsolete_SKNAS' SubClassOf 'obsolete class' 'obsolete_SKNAS' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003669 obsolete_facial ganglion 'obsolete_facial ganglion' SubClassOf 'obsolete class' 'obsolete_facial ganglion' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001007 obsolete_phyllid_v2 'obsolete_phyllid_v2' SubClassOf 'obsolete class' 'obsolete_phyllid_v2' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002338 SKNFI 'SKNFI' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('central nervous system' and ('part_of' some 'Homo sapiens')))) 'SKNFI' SubClassOf 'bearer_of' some 'neuroblastoma' http://www.ebi.ac.uk/efo/EFO_0003666 obsolete_renal tubule 'obsolete_renal tubule' SubClassOf 'obsolete class' 'obsolete_renal tubule' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004997 type 2 diabetes nephropathy 'type 2 diabetes nephropathy' SubClassOf 'diabetic nephropathy' 'type 2 diabetes nephropathy' SubClassOf 'diabetic nephropathy' 'type 2 diabetes nephropathy' EquivalentTo 'diabetic nephropathy' and (http://purl.obolibrary.org/obo/RO_0004022 some 'type II diabetes mellitus') 'type 2 diabetes nephropathy' SubClassOf http://purl.obolibrary.org/obo/RO_0004022 some 'type II diabetes mellitus' http://www.ebi.ac.uk/efo/EFO_0001006 obsolete_thallus 'obsolete_thallus' SubClassOf 'obsolete class' 'obsolete_thallus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002337 SKNEP1 'SKNEP1' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('kidney' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003667 obsolete_renal glomerulus 'obsolete_renal glomerulus' SubClassOf 'obsolete class' 'obsolete_renal glomerulus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001009 obsolete_apical root meristem 'obsolete_apical root meristem' SubClassOf 'obsolete class' 'obsolete_apical root meristem' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000804 anal gland neoplasm 'anal gland neoplasm' SubClassOf 'anal neoplasm' 'anal gland neoplasm' SubClassOf 'anal neoplasm' http://www.ebi.ac.uk/efo/EFO_0001008 obsolete_rhizome 'obsolete_rhizome' SubClassOf 'obsolete class' 'obsolete_rhizome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002339 SKO007 'SKO007' SubClassOf 'cancer cell line' 'SKO007' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'SKO007' SubClassOf 'lymphoma or leukaemia cell line' 'SKO007' SubClassOf 'bearer_of' some 'multiple myeloma' http://www.ebi.ac.uk/efo/EFO_1000805 angioid streaks 'angioid streaks' SubClassOf 'eye disease' 'angioid streaks' SubClassOf 'Rare genetic neurological disorder' 'angioid streaks' SubClassOf 'retinopathy' 'angioid streaks' SubClassOf 'eye disease' http://www.ebi.ac.uk/efo/EFO_1000802 alcoholic liver cirrhosis 'alcoholic liver cirrhosis' SubClassOf 'cirrhosis of liver' 'alcoholic liver cirrhosis' SubClassOf 'has_disease_location' some ('liver' or ('part_of' some 'liver')) 'alcoholic liver cirrhosis' SubClassOf 'cirrhosis of liver' http://www.ebi.ac.uk/efo/EFO_1000803 alcoholic neuropathy 'alcoholic neuropathy' SubClassOf 'polyneuropathy' 'alcoholic neuropathy' SubClassOf 'polyneuropathy' http://www.ebi.ac.uk/efo/EFO_1000800 alcohol withdrawal delirium 'alcohol withdrawal delirium' SubClassOf 'mental or behavioural disorder' 'alcohol withdrawal delirium' SubClassOf 'alcohol dependence' 'alcohol withdrawal delirium' SubClassOf 'alcohol withdrawal' 'alcohol withdrawal delirium' SubClassOf 'mental or behavioural disorder' http://www.ebi.ac.uk/efo/EFO_1000801 alcoholic cardiomyopathy 'alcoholic cardiomyopathy' SubClassOf 'cardiomyopathy' 'alcoholic cardiomyopathy' SubClassOf 'cardiomyopathy' 'alcoholic cardiomyopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002824 'alcoholic cardiomyopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021699 http://www.ebi.ac.uk/efo/EFO_1000808 anterior compartment syndrome 'anterior compartment syndrome' SubClassOf 'muscular disease' 'anterior compartment syndrome' SubClassOf 'muscular disease' 'anterior compartment syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004001 http://www.ebi.ac.uk/efo/EFO_1000809 anterior ischemic optic neuropathy 'anterior ischemic optic neuropathy' SubClassOf 'neuropathy' 'anterior ischemic optic neuropathy' SubClassOf 'neuropathy' 'anterior ischemic optic neuropathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002135 'anterior ischemic optic neuropathy' SubClassOf 'has_disease_location' some ('optic nerve' or ('part_of' some 'optic nerve')) http://www.orpha.net/ORDO/Orphanet_638 Neurofibromatosis-Noonan syndrome 'Neurofibromatosis-Noonan syndrome' SubClassOf 'Malformation syndrome with hamartosis' 'Neurofibromatosis-Noonan syndrome' SubClassOf 'Genetic hyperpigmentation of the skin' 'Neurofibromatosis-Noonan syndrome' SubClassOf 'Malformation syndrome with hamartosis' 'Neurofibromatosis-Noonan syndrome' SubClassOf 'rasopathy' 'Neurofibromatosis-Noonan syndrome' SubClassOf 'Genetic hyperpigmentation of the skin' http://www.ebi.ac.uk/efo/EFO_1000806 angiomyoma 'angiomyoma' SubClassOf 'neoplasm' 'angiomyoma' SubClassOf 'neoplasm' http://www.orpha.net/ORDO/Orphanet_637 Neurofibromatosis type 2 'Neurofibromatosis type 2' SubClassOf 'Syndromic genetic deafness' 'Neurofibromatosis type 2' SubClassOf 'Inherited cancer-predisposing syndrome' 'Neurofibromatosis type 2' SubClassOf 'neurofibromatosis' 'Neurofibromatosis type 2' SubClassOf 'Syndromic genetic deafness' http://www.ebi.ac.uk/efo/EFO_1000807 anterior cerebral artery infarction 'anterior cerebral artery infarction' SubClassOf 'cerebrovascular disorder' 'anterior cerebral artery infarction' SubClassOf 'cerebrovascular disorder' 'anterior cerebral artery infarction' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002679 http://www.orpha.net/ORDO/Orphanet_636 Neurofibromatosis type 1 'Neurofibromatosis type 1' SubClassOf 'Genetic hypertension' 'Neurofibromatosis type 1' SubClassOf 'Phakomatosis with eye involvement' 'Neurofibromatosis type 1' SubClassOf 'Malformation syndrome with hamartosis' 'Neurofibromatosis type 1' SubClassOf 'Inherited cancer-predisposing syndrome' 'Neurofibromatosis type 1' SubClassOf 'Neurocutaneous syndrome with epilepsy' 'Neurofibromatosis type 1' SubClassOf 'Genetic hypertension' 'Neurofibromatosis type 1' SubClassOf 'Phakomatosis with eye involvement' 'Neurofibromatosis type 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Neurofibromatosis type 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 'Neurofibromatosis type 1' SubClassOf 'disease has feature' some 'Genetic hyperpigmentation of the skin' 'Neurofibromatosis type 1' SubClassOf 'rasopathy' 'Neurofibromatosis type 1' SubClassOf 'neurofibromatosis' 'Neurofibromatosis type 1' SubClassOf 'Monogenic disease with epilepsy' 'Neurofibromatosis type 1' SubClassOf 'Malformation syndrome with hamartosis' 'Neurofibromatosis type 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043218 'Neurofibromatosis type 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021635 'Neurofibromatosis type 1' SubClassOf 'Neurocutaneous syndrome with epilepsy' http://www.orpha.net/ORDO/Orphanet_657 Congenital isolated hyperinsulinism 'Congenital isolated hyperinsulinism' SubClassOf 'Familial hyperinsulinism' 'Congenital isolated hyperinsulinism' SubClassOf 'Overgrowth syndrome' 'Congenital isolated hyperinsulinism' SubClassOf 'Developmental anomaly of metabolic origin' 'Congenital isolated hyperinsulinism' SubClassOf 'Familial hyperinsulinism' 'Congenital isolated hyperinsulinism' SubClassOf 'Overgrowth syndrome' 'Congenital isolated hyperinsulinism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0007834 http://www.orpha.net/ORDO/Orphanet_656 Familial idiopathic steroid-resistant nephrotic syndrome 'Familial idiopathic steroid-resistant nephrotic syndrome' SubClassOf 'Primary glomerular disease' 'Familial idiopathic steroid-resistant nephrotic syndrome' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0018170 and http://purl.obolibrary.org/obo/MONDO_0044765 and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) 'Familial idiopathic steroid-resistant nephrotic syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018170 'Familial idiopathic steroid-resistant nephrotic syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044765 'Familial idiopathic steroid-resistant nephrotic syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002350 http://www.orpha.net/ORDO/Orphanet_655 Nephronophthisis 'Nephronophthisis' SubClassOf 'autosomal recessive disease' 'Nephronophthisis' SubClassOf 'Genetic renal tubular disease' 'Nephronophthisis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019744 'Nephronophthisis' SubClassOf 'has_disease_location' some 'kidney' http://www.orpha.net/ORDO/Orphanet_654 Nephroblastoma 'Nephroblastoma' SubClassOf 'embryonal neoplasm' 'Nephroblastoma' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Nephroblastoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002367 'Nephroblastoma' SubClassOf 'embryonal neoplasm' 'Nephroblastoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0006058 http://www.ebi.ac.uk/efo/EFO_0004980 appendicular lean mass 'appendicular lean mass' SubClassOf 'is_about' some 'hip fracture' http://www.orpha.net/ORDO/Orphanet_653 Multiple endocrine neoplasia type 2 'Multiple endocrine neoplasia type 2' SubClassOf 'Inherited cancer-predisposing syndrome' 'Multiple endocrine neoplasia type 2' SubClassOf 'Multiple endocrine neoplasia' 'Multiple endocrine neoplasia type 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018538 'Multiple endocrine neoplasia type 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015075 'Multiple endocrine neoplasia type 2' SubClassOf 'Multiple endocrine neoplasia' http://www.ebi.ac.uk/efo/EFO_0003650 obsolete_ventricular system 'obsolete_ventricular system' SubClassOf 'obsolete class' 'obsolete_ventricular system' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_652 Multiple endocrine neoplasia type 1 'Multiple endocrine neoplasia type 1' SubClassOf 'Multiple endocrine neoplasia' 'Multiple endocrine neoplasia type 1' SubClassOf 'Familial primary hyperparathyroidism' 'Multiple endocrine neoplasia type 1' SubClassOf 'Inherited cancer-predisposing syndrome' 'Multiple endocrine neoplasia type 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018538 'Multiple endocrine neoplasia type 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 'Multiple endocrine neoplasia type 1' SubClassOf 'Multiple endocrine neoplasia' 'Multiple endocrine neoplasia type 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015077 'Multiple endocrine neoplasia type 1' SubClassOf 'Familial primary hyperparathyroidism' 'Multiple endocrine neoplasia type 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017820 http://purl.obolibrary.org/obo/UBERON_0001811 conjunctiva 'conjunctiva' SubClassOf 'develops_from' some 'presumptive neural plate' 'conjunctiva' SubClassOf 'part_of' some 'eye' 'conjunctiva' SubClassOf 'develops_from' some 'ectoderm' 'conjunctiva' SubClassOf 'part_of' some 'head' 'conjunctiva' SubClassOf 'develops_from' some 'primordium' http://www.orpha.net/ORDO/Orphanet_650 LCAT deficiency 'LCAT deficiency' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'LCAT deficiency' SubClassOf 'Hypoalphalipoproteinemia' 'LCAT deficiency' SubClassOf 'Metabolic disease with corneal opacity' 'LCAT deficiency' SubClassOf 'Rare genetic neurological disorder' 'LCAT deficiency' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'LCAT deficiency' SubClassOf 'Hypoalphalipoproteinemia' 'LCAT deficiency' SubClassOf 'Metabolic disease with corneal opacity' http://www.ebi.ac.uk/efo/EFO_0002321 RPMI6666 'RPMI6666' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'RPMI6666' SubClassOf 'bearer_of' some 'Hodgkins lymphoma' http://www.ebi.ac.uk/efo/EFO_0003653 obsolete_ovarian follicle stage IV 'obsolete_ovarian follicle stage IV' SubClassOf 'obsolete class' 'obsolete_ovarian follicle stage IV' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004984 complement C4 measurement 'complement C4 measurement' SubClassOf 'is_about' some ('autoimmune disease' and ('has_role' some 'biomarker')) 'complement C4 measurement' SubClassOf 'is_about' some 'glycoprotein' http://www.ebi.ac.uk/efo/EFO_0002320 RL952 'RL952' SubClassOf 'bearer_of' some 'uterine carcinoma' 'RL952' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('uterus' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003654 obsolete_ovarian follicle stage II 'obsolete_ovarian follicle stage II' SubClassOf 'obsolete class' 'obsolete_ovarian follicle stage II' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004985 platelet reactivity measurement 'platelet reactivity measurement' SubClassOf 'is_about' some 'cardiovascular disease' 'platelet reactivity measurement' SubClassOf 'is_about' some 'platelet' http://www.ebi.ac.uk/efo/EFO_0002323 RWPE1 'RWPE1' SubClassOf 'bearer_of' some 'normal' 'RWPE1' SubClassOf 'derives_from' some 'European' 'RWPE1' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('prostate gland' and ('part_of' some 'Homo sapiens')))) 'RWPE1' SubClassOf 'has_quality' some 'male' http://www.ebi.ac.uk/efo/EFO_0003651 obsolete_gonad primordium 'obsolete_gonad primordium' SubClassOf 'obsolete class' 'obsolete_gonad primordium' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002322 RPMI8226 'RPMI8226' SubClassOf 'cancer cell line' 'RPMI8226' SubClassOf 'lymphoma or leukaemia cell line' 'RPMI8226' SubClassOf 'bearer_of' some 'multiple myeloma' 'RPMI8226' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('blood' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003652 obsolete_ovarian follicle stage I 'obsolete_ovarian follicle stage I' SubClassOf 'obsolete class' 'obsolete_ovarian follicle stage I' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004983 complement C3 measurement 'complement C3 measurement' SubClassOf 'is_about' some ('autoimmune disease' and ('has_role' some 'biomarker')) 'complement C3 measurement' SubClassOf 'is_about' some 'glycoprotein' http://purl.obolibrary.org/obo/UBERON_0001817 lacrimal gland 'lacrimal gland' SubClassOf 'gland' 'lacrimal gland' SubClassOf 'part_of' some 'eye' 'lacrimal gland' DisjointWith http://purl.obolibrary.org/obo/UBERON_0004187 'lacrimal gland' SubClassOf http://purl.obolibrary.org/obo/UBERON_0004859 'lacrimal gland' SubClassOf 'part_of' some 'head' 'lacrimal gland' SubClassOf 'develops_from' some 'presumptive neural plate' 'lacrimal gland' SubClassOf 'develops_from' some 'ectoderm' 'lacrimal gland' SubClassOf http://purl.obolibrary.org/obo/UBERON_0015154 'lacrimal gland' SubClassOf 'develops_from' some 'primordium' 'lacrimal gland' SubClassOf http://purl.obolibrary.org/obo/UBERON_0002365 http://www.ebi.ac.uk/efo/EFO_0002325 SCaBER 'SCaBER' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('urinary bladder' and ('part_of' some 'Homo sapiens')))) 'SCaBER' SubClassOf 'bearer_of' some 'squamous cell carcinoma' http://www.ebi.ac.uk/efo/EFO_0003657 obsolete_regenerating fin 'obsolete_regenerating fin' SubClassOf 'obsolete class' 'obsolete_regenerating fin' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004988 obsolete_embryoid body 'obsolete_embryoid body' SubClassOf 'obsolete class' 'obsolete_embryoid body' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002324 Raji 'Raji' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'Raji' SubClassOf 'bearer_of' some 'Burkitts lymphoma' http://www.ebi.ac.uk/efo/EFO_0003658 obsolete_blastema 'obsolete_blastema' SubClassOf 'obsolete class' 'obsolete_blastema' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002327 SH4 'SH4' SubClassOf 'bearer_of' some 'melanoma' 'SH4' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('zone of skin' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003655 obsolete_ovarian follicle stage III 'obsolete_ovarian follicle stage III' SubClassOf 'obsolete class' 'obsolete_ovarian follicle stage III' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004986 embryonal carcinoma 'embryonal carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003578 http://www.ebi.ac.uk/efo/EFO_0002326 SEM 'SEM' SubClassOf 'bearer_of' some 'acute lymphoblastic leukemia' 'SEM' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003656 obsolete_cranial vasculature 'obsolete_cranial vasculature' SubClassOf 'obsolete class' 'obsolete_cranial vasculature' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004987 embryonal carcinoma cell 'embryonal carcinoma cell' SubClassOf 'bearer_of' some 'embryonal carcinoma' 'embryonal carcinoma cell' SubClassOf 'cell type' and ('participates_in' some 'embryo') http://www.ebi.ac.uk/efo/EFO_0002329 SJRH30 'SJRH30' SubClassOf 'bearer_of' some 'rhabdomyosarcoma' 'SJRH30' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('musculature' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_1000815 aortic valve prolapse 'aortic valve prolapse' SubClassOf 'aortic disease' 'aortic valve prolapse' SubClassOf 'aortic valve disease' 'aortic valve prolapse' SubClassOf 'aortic disease' 'aortic valve prolapse' SubClassOf 'aortic valve disease' 'aortic valve prolapse' SubClassOf 'has_disease_location' some ('aortic valve' or ('part_of' some 'aortic valve')) http://www.ebi.ac.uk/efo/EFO_0002328 SHP77 'SHP77' SubClassOf 'bearer_of' some 'lung carcinoma' 'SHP77' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_1000816 aortitis 'aortitis' SubClassOf 'aortic disease' 'aortitis' SubClassOf 'aortic disease' 'aortitis' SubClassOf 'vasculitis' 'aortitis' SubClassOf 'participates_in' some 'inflammatory response' http://www.ebi.ac.uk/efo/EFO_0003659 obsolete_palatoquadrate arch 'obsolete_palatoquadrate arch' SubClassOf 'obsolete class' 'obsolete_palatoquadrate arch' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000813 anthracosilicosis 'anthracosilicosis' SubClassOf 'pneumoconiosis' 'anthracosilicosis' SubClassOf 'pneumoconiosis' http://www.ebi.ac.uk/efo/EFO_1000814 anthracosis 'anthracosis' SubClassOf 'pneumoconiosis' 'anthracosis' SubClassOf 'pneumoconiosis' http://www.ebi.ac.uk/efo/EFO_1000811 anterior uveitis 'anterior uveitis' SubClassOf 'eye disease' 'anterior uveitis' SubClassOf 'eye disease' 'anterior uveitis' SubClassOf 'uveitis' http://www.ebi.ac.uk/efo/EFO_1000812 anterolateral myocardial infarction 'anterolateral myocardial infarction' SubClassOf 'myocardial infarction' 'anterolateral myocardial infarction' SubClassOf 'myocardial infarction' http://www.ebi.ac.uk/efo/EFO_1000810 anterior spinal artery syndrome 'anterior spinal artery syndrome' SubClassOf 'cerebrovascular disorder' 'anterior spinal artery syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000473 'anterior spinal artery syndrome' SubClassOf 'cerebrovascular disorder' 'anterior spinal artery syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 http://www.ebi.ac.uk/efo/EFO_1000819 arteriolosclerosis 'arteriolosclerosis' SubClassOf 'coronary artery disease' 'arteriolosclerosis' SubClassOf 'arteriosclerosis' 'arteriolosclerosis' SubClassOf 'coronary artery disease' 'arteriolosclerosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021661 http://www.orpha.net/ORDO/Orphanet_649 Norrie disease 'Norrie disease' SubClassOf 'Syndromic genetic deafness' 'Norrie disease' SubClassOf 'Syndromic developmental defect of the eye' 'Norrie disease' SubClassOf 'Congenital vitreoretinal dysplasia' 'Norrie disease' SubClassOf 'X-linked syndromic intellectual disability' 'Norrie disease' SubClassOf 'Syndromic cataract' 'Norrie disease' SubClassOf 'Syndromic genetic deafness' 'Norrie disease' SubClassOf 'Syndromic developmental defect of the eye' 'Norrie disease' SubClassOf 'Congenital vitreoretinal dysplasia' 'Norrie disease' SubClassOf 'X-linked syndromic intellectual disability' 'Norrie disease' SubClassOf 'Syndromic cataract' http://www.ebi.ac.uk/efo/EFO_1000817 apparent mineralocorticoid excess syndrome 'apparent mineralocorticoid excess syndrome' SubClassOf 'genetic disorder' 'apparent mineralocorticoid excess syndrome' SubClassOf 'genetic disorder' 'apparent mineralocorticoid excess syndrome' SubClassOf 'steroid inherited metabolic disorder' 'apparent mineralocorticoid excess syndrome' SubClassOf 'Rare syndromic dyslipidemia' http://www.orpha.net/ORDO/Orphanet_648 Noonan syndrome 'Noonan syndrome' SubClassOf 'Malposition of external canthus' 'Noonan syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Noonan syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Noonan syndrome' SubClassOf 'Noonan syndrome and Noonan-related syndrome' 'Noonan syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Noonan syndrome' SubClassOf 'Syndromic lymphedema' 'Noonan syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007 'Noonan syndrome' SubClassOf 'Malposition of external canthus' 'Noonan syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018722 'Noonan syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020169 'Noonan syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0009332 'Noonan syndrome' SubClassOf 'rasopathy' 'Noonan syndrome' SubClassOf 'Milroy disease' 'Noonan syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Noonan syndrome' SubClassOf 'Syndromic lymphedema' 'Noonan syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Noonan syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Noonan syndrome' SubClassOf 'Noonan syndrome and Noonan-related syndrome' 'Noonan syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018792 http://www.ebi.ac.uk/efo/EFO_1000818 arcus senilis 'arcus senilis' SubClassOf 'corneal disease' 'arcus senilis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001515 'arcus senilis' SubClassOf 'Rare genetic neurological disorder' 'arcus senilis' SubClassOf 'has_disease_location' some ('cornea' or ('part_of' some 'cornea')) http://www.orpha.net/ORDO/Orphanet_647 Nijmegen breakage syndrome 'Nijmegen breakage syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Nijmegen breakage syndrome' SubClassOf 'DNA repair defect other than combined T-cell and B-cell immunodeficiencies' 'Nijmegen breakage syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Nijmegen breakage syndrome' SubClassOf 'Developmental anomaly of metabolic origin' 'Nijmegen breakage syndrome' SubClassOf 'Inborn errors of metabolism' 'Nijmegen breakage syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Nijmegen breakage syndrome' SubClassOf 'autosomal recessive disease' 'Nijmegen breakage syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Nijmegen breakage syndrome' SubClassOf 'DNA repair defect other than combined T-cell and B-cell immunodeficiencies' http://www.orpha.net/ORDO/Orphanet_667 Autosomal recessive malignant osteopetrosis 'Autosomal recessive malignant osteopetrosis' SubClassOf 'Osteopetrosis' 'Autosomal recessive malignant osteopetrosis' SubClassOf 'autosomal recessive disease' 'Autosomal recessive malignant osteopetrosis' SubClassOf 'Osteopetrosis' 'Autosomal recessive malignant osteopetrosis' SubClassOf 'Rare genetic neurological disorder' 'Autosomal recessive malignant osteopetrosis' SubClassOf 'Optic neuropathy' http://www.orpha.net/ORDO/Orphanet_666 Osteogenesis imperfecta 'Osteogenesis imperfecta' SubClassOf 'Primary bone dysplasia with decreased bone density' 'Osteogenesis imperfecta' SubClassOf 'osteochondrodysplasia' 'Osteogenesis imperfecta' SubClassOf 'Primary bone dysplasia with decreased bone density' http://www.orpha.net/ORDO/Orphanet_665 Albright hereditary osteodystrophy 'Albright hereditary osteodystrophy' SubClassOf 'Pseudohypoparathyroidism' 'Albright hereditary osteodystrophy' SubClassOf 'Musculoskeletal disease with cataract' 'Albright hereditary osteodystrophy' SubClassOf 'Syndromic obesity' 'Albright hereditary osteodystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018699 http://www.ebi.ac.uk/efo/EFO_0002350 SNU475 'SNU475' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('liver' and ('part_of' some 'Homo sapiens')))) 'SNU475' SubClassOf 'bearer_of' some 'hepatocellular carcinoma' http://www.ebi.ac.uk/efo/EFO_0003682 obsolete_regeneration epithelium 'obsolete_regeneration epithelium' SubClassOf 'obsolete class' 'obsolete_regeneration epithelium' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003683 obsolete_anterior lateral line ganglion 'obsolete_anterior lateral line ganglion' SubClassOf 'obsolete class' 'obsolete_anterior lateral line ganglion' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_663 Maternally-inherited progressive external ophthalmoplegia 'Maternally-inherited progressive external ophthalmoplegia' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA' 'Maternally-inherited progressive external ophthalmoplegia' SubClassOf 'Mitochondrial disease with eye involvement' 'Maternally-inherited progressive external ophthalmoplegia' SubClassOf 'Syndrome with a symptomatic strabismus' 'Maternally-inherited progressive external ophthalmoplegia' SubClassOf 'Mitochondrial myopathy' 'Maternally-inherited progressive external ophthalmoplegia' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA' 'Maternally-inherited progressive external ophthalmoplegia' SubClassOf 'Mitochondrial disease with eye involvement' 'Maternally-inherited progressive external ophthalmoplegia' SubClassOf 'Myopathy with eye involvement' 'Maternally-inherited progressive external ophthalmoplegia' SubClassOf 'Syndrome with a symptomatic strabismus' 'Maternally-inherited progressive external ophthalmoplegia' SubClassOf 'Mitochondrial myopathy' 'Maternally-inherited progressive external ophthalmoplegia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020169 http://www.ebi.ac.uk/efo/EFO_0001021 obsolete_seed coat 'obsolete_seed coat' SubClassOf 'obsolete class' 'obsolete_seed coat' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002352 SR 'SR' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'SR' SubClassOf 'bearer_of' some 'lymphoma' http://www.ebi.ac.uk/efo/EFO_0003680 obsolete_axial hypoblast 'obsolete_axial hypoblast' SubClassOf 'obsolete class' 'obsolete_axial hypoblast' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001020 obsolete_endosperm 'obsolete_endosperm' SubClassOf 'obsolete class' 'obsolete_endosperm' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002351 SNU5 'SNU5' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('stomach' and ('part_of' some 'Homo sapiens')))) 'SNU5' SubClassOf 'bearer_of' some 'gastric carcinoma' http://www.ebi.ac.uk/efo/EFO_0003681 obsolete_apical ectodermal ridge pelvic fin bud 'obsolete_apical ectodermal ridge pelvic fin bud' SubClassOf 'obsolete class' 'obsolete_apical ectodermal ridge pelvic fin bud' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_661 Ondine syndrome 'Ondine syndrome' SubClassOf 'autonomic nervous system disease' 'Ondine syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021635 'Ondine syndrome' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Ondine syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Ondine syndrome' SubClassOf 'autonomic nervous system disease' http://www.ebi.ac.uk/efo/EFO_0001023 obsolete_bud 'obsolete_bud' SubClassOf 'obsolete class' 'obsolete_bud' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002354 SUDHL10 'SUDHL10' SubClassOf 'bearer_of' some 'lymphoma' 'SUDHL10' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003686 obsolete_hyosymplectic cartilage 'obsolete_hyosymplectic cartilage' SubClassOf 'obsolete class' 'obsolete_hyosymplectic cartilage' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001022 obsolete_cotyledon 'obsolete_cotyledon' SubClassOf 'obsolete class' 'obsolete_cotyledon' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002353 ST486 'ST486' SubClassOf 'bearer_of' some 'Burkitts lymphoma' 'ST486' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003687 obsolete_primitive olfactory epithelium 'obsolete_primitive olfactory epithelium' SubClassOf 'obsolete class' 'obsolete_primitive olfactory epithelium' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001025 obsolete_petal 'obsolete_petal' SubClassOf 'obsolete class' 'obsolete_petal' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002356 SUDHL5 'SUDHL5' SubClassOf 'bearer_of' some 'lymphoid neoplasm' 'SUDHL5' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003684 obsolete_ventral hyoid arch 'obsolete_ventral hyoid arch' SubClassOf 'obsolete class' 'obsolete_ventral hyoid arch' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_325061 46,XX disorder of sex development induced by fetoplacental androgens excess '46,XX disorder of sex development induced by fetoplacental androgens excess' SubClassOf 'Genetic 46,XX disorder of sex development' '46,XX disorder of sex development induced by fetoplacental androgens excess' SubClassOf 'Genetic disorder of sex development of gynecological interest' '46,XX disorder of sex development induced by fetoplacental androgens excess' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020039 http://www.ebi.ac.uk/efo/EFO_0001024 obsolete_flower structure 'obsolete_flower structure' SubClassOf 'obsolete class' 'obsolete_flower structure' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002355 SUDHL16 'SUDHL16' SubClassOf 'bearer_of' some 'lymphoid neoplasm' 'SUDHL16' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003685 obsolete_ethmoid cartilage 'obsolete_ethmoid cartilage' SubClassOf 'obsolete class' 'obsolete_ethmoid cartilage' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001027 obsolete_tepal 'obsolete_tepal' SubClassOf 'obsolete class' 'obsolete_tepal' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002358 SW1088 'SW1088' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('central nervous system' and ('part_of' some 'Homo sapiens')))) 'SW1088' SubClassOf 'bearer_of' some 'glioblastoma multiforme' http://www.ebi.ac.uk/efo/EFO_0001026 obsolete_sepal 'obsolete_sepal' SubClassOf 'obsolete class' 'obsolete_sepal' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002357 SUDHL6 'SUDHL6' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'SUDHL6' SubClassOf 'bearer_of' some 'lymphoma' http://www.ebi.ac.uk/efo/EFO_0001029 obsolete_inflorescence 'obsolete_inflorescence' SubClassOf 'obsolete class' 'obsolete_inflorescence' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003688 obsolete_floor plate neural tube 'obsolete_floor plate neural tube' SubClassOf 'obsolete class' 'obsolete_floor plate neural tube' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001028 obsolete_fruit 'obsolete_fruit' SubClassOf 'obsolete class' 'obsolete_fruit' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002359 SW1116 'SW1116' SubClassOf 'cancer cell line' 'SW1116' SubClassOf 'colorectal cancer cell line' 'SW1116' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('colon' and ('part_of' some 'Homo sapiens')))) 'SW1116' SubClassOf 'bearer_of' some 'colorectal adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0003689 obsolete_pharyngeal arch cartilage 'obsolete_pharyngeal arch cartilage' SubClassOf 'obsolete class' 'obsolete_pharyngeal arch cartilage' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000826 atrophic gastritis 'atrophic gastritis' SubClassOf 'gastritis' 'atrophic gastritis' SubClassOf 'gastritis' 'atrophic gastritis' SubClassOf 'chronic gastritis' http://www.ebi.ac.uk/efo/EFO_1000827 atrophy of thyroid 'atrophy of thyroid' SubClassOf 'thyroid disease' 'atrophy of thyroid' SubClassOf 'thyroid disease' http://www.ebi.ac.uk/efo/EFO_1000824 asphyxia neonatorum 'asphyxia neonatorum' SubClassOf 'respiratory system disease' 'asphyxia neonatorum' SubClassOf 'respiratory system disease' http://www.ebi.ac.uk/efo/EFO_1000825 atrial heart septal defect 'atrial heart septal defect' SubClassOf 'heart disease' 'atrial heart septal defect' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002078 'atrial heart septal defect' SubClassOf 'heart disease' 'atrial heart septal defect' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020294 'atrial heart septal defect' SubClassOf 'Genetic cardiac anomaly' http://www.orpha.net/ORDO/Orphanet_55654 Hypotrichosis simplex 'Hypotrichosis simplex' SubClassOf 'Alopecia' 'Hypotrichosis simplex' SubClassOf 'Alopecia' 'Hypotrichosis simplex' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021034 http://www.ebi.ac.uk/efo/EFO_1000822 ascorbic acid deficiency 'ascorbic acid deficiency' SubClassOf 'nutritional deficiency disease' 'ascorbic acid deficiency' SubClassOf 'nutritional deficiency disease' http://www.ebi.ac.uk/efo/EFO_1000823 aseptic meningitis 'aseptic meningitis' SubClassOf 'infectious meningitis' 'aseptic meningitis' DisjointWith 'bacterial meningitis' 'aseptic meningitis' SubClassOf 'infectious meningitis' 'aseptic meningitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021108 http://www.ebi.ac.uk/efo/EFO_1000820 arteriosclerosis obliterans 'arteriosclerosis obliterans' SubClassOf 'coronary artery disease' 'arteriosclerosis obliterans' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021661 'arteriosclerosis obliterans' SubClassOf 'coronary artery disease' http://www.ebi.ac.uk/efo/EFO_1000821 arthus reaction 'arthus reaction' SubClassOf 'type III hypersensitivity reaction disease' 'arthus reaction' SubClassOf 'type III hypersensitivity reaction disease' http://www.ebi.ac.uk/efo/EFO_1000828 B- and T-cell mixed leukemia 'B- and T-cell mixed leukemia' SubClassOf 'acute lymphoblastic leukemia' 'B- and T-cell mixed leukemia' SubClassOf 'acute lymphoblastic leukemia' http://www.orpha.net/ORDO/Orphanet_659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques 'Mutilating palmoplantar keratoderma with periorificial keratotic plaques' SubClassOf 'Autosomal dominant diffuse mutilating palmoplantar keratoderma' 'Mutilating palmoplantar keratoderma with periorificial keratotic plaques' SubClassOf 'Autosomal dominant diffuse mutilating palmoplantar keratoderma' http://www.ebi.ac.uk/efo/EFO_1000829 bacterial conjunctivitis 'bacterial conjunctivitis' SubClassOf 'conjunctivitis' 'bacterial conjunctivitis' SubClassOf 'bacterial disease' 'bacterial conjunctivitis' SubClassOf 'conjunctivitis' 'bacterial conjunctivitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043885 http://www.orpha.net/ORDO/Orphanet_679 Malignant atrophic papulosis 'Malignant atrophic papulosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019293 'Malignant atrophic papulosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 'Malignant atrophic papulosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015938 'Malignant atrophic papulosis' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'Malignant atrophic papulosis' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://www.orpha.net/ORDO/Orphanet_678 Papillon-Lefèvre syndrome 'Papillon-Lefèvre syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Papillon-Lefèvre syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Papillon-Lefèvre syndrome' SubClassOf 'Disorder of lysosomal-related organelles' 'Papillon-Lefèvre syndrome' SubClassOf 'Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature' 'Papillon-Lefèvre syndrome' SubClassOf 'Functional neutrophil defect' 'Papillon-Lefèvre syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002635 'Papillon-Lefèvre syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Papillon-Lefèvre syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Papillon-Lefèvre syndrome' SubClassOf 'Disorder of lysosomal-related organelles' 'Papillon-Lefèvre syndrome' SubClassOf 'Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature' 'Papillon-Lefèvre syndrome' SubClassOf 'Developmental anomaly of metabolic origin' 'Papillon-Lefèvre syndrome' SubClassOf 'Functional neutrophil defect' http://www.orpha.net/ORDO/Orphanet_676 Hereditary chronic pancreatitis 'Hereditary chronic pancreatitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015888 'Hereditary chronic pancreatitis' SubClassOf 'chronic pancreatitis' 'Hereditary chronic pancreatitis' EquivalentTo 'chronic pancreatitis' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) 'Hereditary chronic pancreatitis' SubClassOf 'Inborn errors of metabolism' http://www.ebi.ac.uk/efo/EFO_0003671 obsolete_vagal ganglion 2 'obsolete_vagal ganglion 2' SubClassOf 'obsolete class' 'obsolete_vagal ganglion 2' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_675 Annular pancreas 'Annular pancreas' SubClassOf 'Non-syndromic visceral malformation' 'Annular pancreas' SubClassOf 'Non-syndromic visceral malformation' http://www.ebi.ac.uk/efo/EFO_0003672 obsolete_vagal ganglion 3 'obsolete_vagal ganglion 3' SubClassOf 'obsolete class' 'obsolete_vagal ganglion 3' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_399380 Osteonecrosis of genetic origin 'Osteonecrosis of genetic origin' SubClassOf 'osteonecrosis' 'Osteonecrosis of genetic origin' EquivalentTo 'osteonecrosis' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) 'Osteonecrosis of genetic origin' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 http://www.orpha.net/ORDO/Orphanet_674 Accessory pancreas 'Accessory pancreas' SubClassOf 'Non-syndromic visceral malformation' 'Accessory pancreas' SubClassOf 'Non-syndromic visceral malformation' http://www.ebi.ac.uk/efo/EFO_0001010 lateral root meristem 'lateral root meristem' SubClassOf 'part_of' some 'root structure' 'lateral root meristem' SubClassOf 'has_quality' some 'lateral' http://www.ebi.ac.uk/efo/EFO_0002341 SKUT1 'SKUT1' SubClassOf 'bearer_of' some 'leiomyosarcoma' 'SKUT1' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('uterus' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0002340 SKOV3 'SKOV3' SubClassOf 'bearer_of' some 'ovarian carcinoma' 'SKOV3' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('female gonad' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003670 obsolete_vagal ganglion 1 'obsolete_vagal ganglion 1' SubClassOf 'obsolete class' 'obsolete_vagal ganglion 1' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_672 Pallister-Hall syndrome 'Pallister-Hall syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Pallister-Hall syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Pallister-Hall syndrome' SubClassOf 'Syndromic anorectal malformation' 'Pallister-Hall syndrome' SubClassOf 'Disease associated with non-acquired combined pituitary hormone deficiency' 'Pallister-Hall syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Pallister-Hall syndrome' SubClassOf 'Syndromic anorectal malformation' 'Pallister-Hall syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Pallister-Hall syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007 'Pallister-Hall syndrome' SubClassOf 'Disease associated with non-acquired combined pituitary hormone deficiency' http://www.ebi.ac.uk/efo/EFO_0001012 obsolete_root hair 'obsolete_root hair' SubClassOf 'obsolete class' 'obsolete_root hair' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002343 SNU1 'SNU1' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('stomach' and ('part_of' some 'Homo sapiens')))) 'SNU1' SubClassOf 'bearer_of' some 'gastric carcinoma' http://www.ebi.ac.uk/efo/EFO_0003675 obsolete_ventral anterior lateral line ganglion 'obsolete_ventral anterior lateral line ganglion' SubClassOf 'obsolete class' 'obsolete_ventral anterior lateral line ganglion' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001011 obsolete_taproot 'obsolete_taproot' SubClassOf 'obsolete class' 'obsolete_taproot' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002342 SNB19 'SNB19' SubClassOf 'bearer_of' some 'glioblastoma multiforme' 'SNB19' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('central nervous system' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003676 obsolete_posterior lateral line ganglion 'obsolete_posterior lateral line ganglion' SubClassOf 'obsolete class' 'obsolete_posterior lateral line ganglion' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000830 bacterial endocarditis 'bacterial endocarditis' SubClassOf 'endocarditis' 'bacterial endocarditis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000565 'bacterial endocarditis' SubClassOf 'endocarditis' 'bacterial endocarditis' SubClassOf 'bacterial disease' http://www.ebi.ac.uk/efo/EFO_0001014 obsolete_root cap 'obsolete_root cap' SubClassOf 'obsolete class' 'obsolete_root cap' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002345 SNU182 'SNU182' SubClassOf 'bearer_of' some 'hepatocellular carcinoma' 'SNU182' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('liver' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003673 obsolete_vagal ganglion 4 'obsolete_vagal ganglion 4' SubClassOf 'obsolete class' 'obsolete_vagal ganglion 4' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001013 obsolete_root nodule 'obsolete_root nodule' SubClassOf 'obsolete class' 'obsolete_root nodule' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002344 SNU16 'SNU16' SubClassOf 'bearer_of' some 'gastric carcinoma' 'SNU16' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('stomach' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003674 obsolete_dorsal anterior lateral line ganglion 'obsolete_dorsal anterior lateral line ganglion' SubClassOf 'obsolete class' 'obsolete_dorsal anterior lateral line ganglion' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001016 obsolete_cambium 'obsolete_cambium' SubClassOf 'obsolete class' 'obsolete_cambium' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002347 SNU398 'SNU398' SubClassOf 'bearer_of' some 'hepatocellular carcinoma' 'SNU398' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('liver' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003679 obsolete_pineal complex 'obsolete_pineal complex' SubClassOf 'obsolete class' 'obsolete_pineal complex' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001015 obsolete_tuber 'obsolete_tuber' SubClassOf 'obsolete class' 'obsolete_tuber' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002346 SNU387 'SNU387' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('liver' and ('part_of' some 'Homo sapiens')))) 'SNU387' SubClassOf 'bearer_of' some 'hepatocellular carcinoma' http://www.ebi.ac.uk/efo/EFO_0001018 lateral shoot meristem 'lateral shoot meristem' SubClassOf 'has_quality' some 'lateral' http://www.ebi.ac.uk/efo/EFO_0002349 SNU449 'SNU449' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('liver' and ('part_of' some 'Homo sapiens')))) 'SNU449' SubClassOf 'bearer_of' some 'hepatocellular carcinoma' http://www.ebi.ac.uk/efo/EFO_0003677 obsolete_neurocranial trabecula 'obsolete_neurocranial trabecula' SubClassOf 'obsolete class' 'obsolete_neurocranial trabecula' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001017 obsolete_apical shoot meristem 'obsolete_apical shoot meristem' SubClassOf 'obsolete class' 'obsolete_apical shoot meristem' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002348 SNU423 'SNU423' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('liver' and ('part_of' some 'Homo sapiens')))) 'SNU423' SubClassOf 'bearer_of' some 'hepatocellular carcinoma' http://www.ebi.ac.uk/efo/EFO_0003678 obsolete_terminal nerve 'obsolete_terminal nerve' SubClassOf 'obsolete class' 'obsolete_terminal nerve' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000837 beriberi 'beriberi' SubClassOf 'nutritional deficiency disease' 'beriberi' SubClassOf http://purl.obolibrary.org/obo/MONDO_0042976 'beriberi' SubClassOf 'nutritional deficiency disease' http://www.orpha.net/ORDO/Orphanet_183731 Rare genetic gynecological and obstetrical diseases 'Rare genetic gynecological and obstetrical diseases' SubClassOf 'has_disease_location' some 'female reproductive system' http://www.ebi.ac.uk/efo/EFO_0001019 obsolete_radicle 'obsolete_radicle' SubClassOf 'obsolete class' 'obsolete_radicle' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000838 bile reflux 'bile reflux' SubClassOf 'biliary tract disease' 'bile reflux' SubClassOf 'biliary tract disease' http://www.ebi.ac.uk/efo/EFO_1000835 benign fibrous mesothelioma 'benign fibrous mesothelioma' SubClassOf 'mesothelioma' 'benign fibrous mesothelioma' SubClassOf 'mesothelioma' 'benign fibrous mesothelioma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002373 http://www.ebi.ac.uk/efo/EFO_1000836 benign monoclonal gammopathy 'benign monoclonal gammopathy' SubClassOf 'monoclonal gammopathy' 'benign monoclonal gammopathy' SubClassOf 'monoclonal gammopathy' http://www.orpha.net/ORDO/Orphanet_183734 Genetic gynecological tumor 'Genetic gynecological tumor' SubClassOf 'female reproductive system disease' 'Genetic gynecological tumor' SubClassOf 'urogenital neoplasm' 'Genetic gynecological tumor' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Genetic gynecological tumor' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0021148 and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) 'Genetic gynecological tumor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021148 'Genetic gynecological tumor' SubClassOf 'has_disease_location' some ('female reproductive system' or ('part_of' some 'female reproductive system')) 'Genetic gynecological tumor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003847 http://www.ebi.ac.uk/efo/EFO_1000833 balanitis 'balanitis' SubClassOf 'male reproductive system disease' 'balanitis' SubClassOf 'has_disease_location' some ('penis' or ('part_of' some 'penis')) 'balanitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021166 'balanitis' SubClassOf 'reproductive system disease' 'balanitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002036 http://www.ebi.ac.uk/efo/EFO_1000834 basophil adenoma 'basophil adenoma' SubClassOf 'Pituitary Gland Adenoma' 'basophil adenoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004805 'basophil adenoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003641 'basophil adenoma' SubClassOf 'Pituitary Gland Adenoma' http://www.ebi.ac.uk/efo/EFO_1000831 bacterial meningitis 'bacterial meningitis' SubClassOf 'infectious meningitis' 'aseptic meningitis' DisjointWith 'bacterial meningitis' 'bacterial meningitis' SubClassOf 'bacterial disease' 'bacterial meningitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021108 'bacterial meningitis' SubClassOf 'infectious meningitis' http://www.ebi.ac.uk/efo/EFO_1000832 Bacteroides infectious disease 'Bacteroides infectious disease' SubClassOf 'bacterial disease' 'Bacteroides infectious disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024389 'Bacteroides infectious disease' SubClassOf 'bacterial disease' 'Bacteroides infectious disease' SubClassOf 'commensal Bacteroidaceae infectious disease' http://www.orpha.net/ORDO/Orphanet_325055 46,XX disorder of gonadal development '46,XX disorder of gonadal development' SubClassOf 'Genetic 46,XX disorder of sex development' '46,XX disorder of gonadal development' SubClassOf 'Genetic 46,XX disorder of sex development' http://www.orpha.net/ORDO/Orphanet_399388 Avascular necrosis of genetic origin 'Avascular necrosis of genetic origin' SubClassOf 'Osteonecrosis of genetic origin' 'Avascular necrosis of genetic origin' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018373 'Avascular necrosis of genetic origin' SubClassOf 'Osteonecrosis of genetic origin' 'Avascular necrosis of genetic origin' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0018373 and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) http://www.ebi.ac.uk/efo/EFO_1000839 bladder calculus 'bladder calculus' SubClassOf 'bladder disease' 'bladder calculus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004828 'bladder calculus' SubClassOf 'bladder disease' http://www.orpha.net/ORDO/Orphanet_669 Otopalatodigital syndrome 'Otopalatodigital syndrome' SubClassOf 'Syndrome or malformation associated with head and neck malformations' 'Otopalatodigital syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Otopalatodigital syndrome' SubClassOf 'Syndromic genetic deafness' 'Otopalatodigital syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Otopalatodigital syndrome' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Otopalatodigital syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020014 'Otopalatodigital syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Otopalatodigital syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 'Otopalatodigital syndrome' SubClassOf 'Syndrome or malformation associated with head and neck malformations' 'Otopalatodigital syndrome' SubClassOf 'Syndromic genetic deafness' 'Otopalatodigital syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Otopalatodigital syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Otopalatodigital syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018233 'Otopalatodigital syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 'Otopalatodigital syndrome' SubClassOf 'Genetic branchial arch or oral-acral syndrome' http://www.orpha.net/ORDO/Orphanet_169443 Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells 'Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells' SubClassOf 'Immunodeficiency predominantly affecting antibody production' 'Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells' SubClassOf 'Immunodeficiency predominantly affecting antibody production' http://www.ebi.ac.uk/efo/EFO_0002370 SW756 'SW756' SubClassOf 'bearer_of' some 'cervical carcinoma' 'SW756' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('uterine cervix' and ('part_of' some 'Homo sapiens')))) http://www.orpha.net/ORDO/Orphanet_314389 Xq12-q13.3 duplication syndrome 'Xq12-q13.3 duplication syndrome' SubClassOf 'Partial duplication of the long arm of chromosome X' 'Xq12-q13.3 duplication syndrome' SubClassOf 'Rare disease with autism' 'Xq12-q13.3 duplication syndrome' SubClassOf 'Partial duplication of the long arm of chromosome X' 'Xq12-q13.3 duplication syndrome' SubClassOf 'Rare disease with autism' 'Xq12-q13.3 duplication syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 http://www.ebi.ac.uk/efo/EFO_0001041 obsolete_bark 'obsolete_bark' SubClassOf 'obsolete class' 'obsolete_bark' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002372 SW837 'SW837' SubClassOf 'cancer cell line' 'SW837' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('colon' and ('part_of' some 'Homo sapiens')))) 'SW837' SubClassOf 'colorectal cancer cell line' 'SW837' SubClassOf 'bearer_of' some 'colorectal adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0001040 obsolete_stem 'obsolete_stem' SubClassOf 'obsolete class' 'obsolete_stem' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002371 SW780 'SW780' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('urinary bladder' and ('part_of' some 'Homo sapiens')))) 'SW780' SubClassOf 'bearer_of' some 'bladder carcinoma' http://www.orpha.net/ORDO/Orphanet_685 Hereditary spastic paraplegia 'Hereditary spastic paraplegia' SubClassOf 'Genetic neurodegenerative disease' 'Hereditary spastic paraplegia' SubClassOf 'paraplegia' 'Hereditary spastic paraplegia' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_171723 White sponge nevus 'White sponge nevus' SubClassOf 'Genetic skin tumor' 'White sponge nevus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015748 http://www.ebi.ac.uk/efo/EFO_0001043 obsolete_wood parenchyma 'obsolete_wood parenchyma' SubClassOf 'obsolete class' 'obsolete_wood parenchyma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002374 SW900 'SW900' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) 'SW900' SubClassOf 'bearer_of' some 'small cell lung carcinoma' http://www.orpha.net/ORDO/Orphanet_684 Paramyotonia congenita of Von Eulenburg 'Paramyotonia congenita of Von Eulenburg' SubClassOf 'Myotonic syndrome' 'Paramyotonia congenita of Von Eulenburg' SubClassOf 'Myotonic syndrome' 'Paramyotonia congenita of Von Eulenburg' SubClassOf 'muscular channelopathy' http://www.ebi.ac.uk/efo/EFO_0001042 obsolete_xylem 'obsolete_xylem' SubClassOf 'obsolete class' 'obsolete_xylem' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002373 SW872 'SW872' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('connective tissue' and ('part_of' some 'Homo sapiens')))) 'SW872' SubClassOf 'bearer_of' some 'liposarcoma' http://www.orpha.net/ORDO/Orphanet_683 Progressive supranuclear palsy 'Progressive supranuclear palsy' SubClassOf 'Supranuclear oculomotor palsy' 'Progressive supranuclear palsy' SubClassOf 'Genetic frontotemporal degeneration with dementia' 'Progressive supranuclear palsy' SubClassOf 'Frontotemporal neurodegeneration with movement disorder' 'Progressive supranuclear palsy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004884 'Progressive supranuclear palsy' SubClassOf 'Genetic neurodegenerative disease with dementia' 'Progressive supranuclear palsy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Progressive supranuclear palsy' SubClassOf 'Supranuclear oculomotor palsy' 'Progressive supranuclear palsy' SubClassOf 'Genetic frontotemporal degeneration with dementia' 'Progressive supranuclear palsy' SubClassOf 'realized_in' some ('disease course' and ('has part' some 'microtubule-associated protein tau')) 'Progressive supranuclear palsy' SubClassOf 'Frontotemporal neurodegeneration with movement disorder' http://www.ebi.ac.uk/efo/EFO_0002376 SW954 'SW954' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('mammalian vulva' and ('part_of' some 'Homo sapiens')))) 'SW954' SubClassOf 'bearer_of' some 'vulvar carcinoma' http://www.ebi.ac.uk/efo/EFO_1000840 bladder neck obstruction 'bladder neck obstruction' SubClassOf 'bladder disease' 'bladder neck obstruction' SubClassOf 'has_disease_location' some ('urinary bladder' or ('part_of' some 'urinary bladder')) 'bladder neck obstruction' SubClassOf 'bladder disease' http://www.orpha.net/ORDO/Orphanet_682 Hyperkalemic periodic paralysis 'Hyperkalemic periodic paralysis' SubClassOf 'Genetic muscular channelopathy' 'Hyperkalemic periodic paralysis' SubClassOf 'Genetic periodic paralysis' 'Hyperkalemic periodic paralysis' SubClassOf 'Hypokalemic periodic paralysis' http://www.ebi.ac.uk/efo/EFO_0001044 obsolete_phloem 'obsolete_phloem' SubClassOf 'obsolete class' 'obsolete_phloem' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002375 SW948 'SW948' SubClassOf 'cancer cell line' 'SW948' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('colon' and ('part_of' some 'Homo sapiens')))) 'SW948' SubClassOf 'bearer_of' some 'colorectal adenocarcinoma' 'SW948' SubClassOf 'colorectal cancer cell line' http://www.ebi.ac.uk/efo/EFO_1000841 blue nevus 'blue nevus' SubClassOf 'nevus' 'blue nevus' SubClassOf 'nevus' 'blue nevus' SubClassOf 'melanocytic nevus' http://www.orpha.net/ORDO/Orphanet_681 Hypokalemic periodic paralysis 'Hypokalemic periodic paralysis' SubClassOf 'Genetic muscular channelopathy' 'Hypokalemic periodic paralysis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016122 'Hypokalemic periodic paralysis' SubClassOf 'Potassium-aggravated myotonia' 'Hypokalemic periodic paralysis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000995 http://www.ebi.ac.uk/efo/EFO_0002378 SW982 'SW982' SubClassOf 'bearer_of' some 'synovial sarcoma' 'SW982' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('synovial membrane' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0002377 SW962 'SW962' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('mammalian vulva' and ('part_of' some 'Homo sapiens')))) 'SW962' SubClassOf 'bearer_of' some 'vulvar carcinoma' http://www.orpha.net/ORDO/Orphanet_217572 Glycogen storage disease with hypertrophic cardiomyopathy 'Glycogen storage disease with hypertrophic cardiomyopathy' SubClassOf 'Rare familial disorder with hypertrophic cardiomyopathy' 'Glycogen storage disease with hypertrophic cardiomyopathy' SubClassOf 'Rare familial disorder with hypertrophic cardiomyopathy' http://www.ebi.ac.uk/efo/EFO_0001049 obsolete_corm 'obsolete_corm' SubClassOf 'obsolete class' 'obsolete_corm' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002379 SiHa 'SiHa' SubClassOf 'bearer_of' some 'cervical carcinoma' 'SiHa' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('uterine cervix' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_1000848 breast cyst 'breast cyst' SubClassOf 'breast neoplasm' 'breast cyst' SubClassOf 'breast neoplasm' http://www.ebi.ac.uk/efo/EFO_1000849 bronchial neoplasm 'bronchial neoplasm' SubClassOf 'respiratory system neoplasm' 'bronchial neoplasm' SubClassOf 'respiratory system neoplasm' 'bronchial neoplasm' SubClassOf 'has_disease_location' some ('bronchus' or ('part_of' some 'bronchus')) http://www.ebi.ac.uk/efo/EFO_1000846 brain hypoxia-Ischemia 'brain hypoxia-Ischemia' SubClassOf 'disease has feature' some http://purl.obolibrary.org/obo/MONDO_0100035 'brain hypoxia-Ischemia' SubClassOf 'brain disease' http://www.ebi.ac.uk/efo/EFO_1000847 brain stem infarction 'brain stem infarction' SubClassOf 'brain infarction' 'brain stem infarction' SubClassOf 'central nervous system disease' 'brain stem infarction' SubClassOf 'brain infarction' 'brain stem infarction' SubClassOf 'has_disease_location' some ('brainstem' or ('part_of' some 'brainstem')) http://www.ebi.ac.uk/efo/EFO_1000844 brachial plexus neuropathy 'brachial plexus neuropathy' SubClassOf 'peripheral nervous system disease' 'brachial plexus neuropathy' SubClassOf 'nerve plexus disease' 'brachial plexus neuropathy' SubClassOf 'peripheral nervous system disease' 'brachial plexus neuropathy' SubClassOf 'nerve plexus disease' http://www.ebi.ac.uk/efo/EFO_1000845 brain edema 'brain edema' SubClassOf 'brain disease' 'brain edema' SubClassOf 'brain disease' http://www.ebi.ac.uk/efo/EFO_1000843 brachial plexus neuritis 'brachial plexus neuritis' SubClassOf 'brachial plexus neuropathy' 'brachial plexus neuritis' SubClassOf 'brachial plexus neuropathy' 'brachial plexus neuritis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002122 http://purl.obolibrary.org/obo/PO_0025281 pollen 'pollen' SubClassOf 'microgametophyte' 'pollen' SubClassOf 'microgametophyte' http://purl.obolibrary.org/obo/PO_0025280 microgametophyte 'microgametophyte' SubClassOf 'whole plant' 'microgametophyte' SubClassOf 'whole plant' http://www.orpha.net/ORDO/Orphanet_183707 Neutrophil immunodeficiency syndrome 'Neutrophil immunodeficiency syndrome' SubClassOf 'Functional neutrophil defect' 'Neutrophil immunodeficiency syndrome' SubClassOf 'Functional neutrophil defect' http://www.orpha.net/ORDO/Orphanet_314381 Hereditary sensory and autonomic neuropathy type 6 'Hereditary sensory and autonomic neuropathy type 6' SubClassOf 'Autosomal recessive hereditary sensory and autonomic neuropathy' 'Hereditary sensory and autonomic neuropathy type 6' SubClassOf 'Autosomal recessive hereditary sensory and autonomic neuropathy' http://www.ebi.ac.uk/efo/EFO_0003690 obsolete_chondrocranium cartilage 'obsolete_chondrocranium cartilage' SubClassOf 'obsolete class' 'obsolete_chondrocranium cartilage' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_699 Pearson syndrome 'Pearson syndrome' SubClassOf 'Constitutional sideroblastic anemia' 'Pearson syndrome' SubClassOf 'Metabolic disease with intestinal involvement' 'Pearson syndrome' SubClassOf 'Syndrome with hypoparathyroidism' 'Pearson syndrome' SubClassOf 'Constitutional neutropenia with extra-haematopoietic manifestations' 'Pearson syndrome' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA' 'Pearson syndrome' SubClassOf 'Constitutional sideroblastic anemia' 'Pearson syndrome' SubClassOf 'Metabolic disease with intestinal involvement' 'Pearson syndrome' SubClassOf 'Syndrome with hypoparathyroidism' 'Pearson syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000577 'Pearson syndrome' SubClassOf 'Rare genetic neurological disorder' 'Pearson syndrome' SubClassOf 'Constitutional neutropenia with extra-haematopoietic manifestations' 'Pearson syndrome' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA' http://purl.obolibrary.org/obo/PO_0025279 megagametophyte 'megagametophyte' SubClassOf 'whole plant' 'megagametophyte' SubClassOf 'whole plant' http://www.orpha.net/ORDO/Orphanet_314399 Autosomal dominant aplasia and myelodysplasia 'Autosomal dominant aplasia and myelodysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000159 'Autosomal dominant aplasia and myelodysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001713 http://www.ebi.ac.uk/efo/EFO_0001030 RNAi profiling by array 'RNAi profiling by array' SubClassOf 'has_participant' some 'DNA array' 'RNAi profiling by array' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0002361 SW1417 'SW1417' SubClassOf 'cancer cell line' 'SW1417' SubClassOf 'colorectal cancer cell line' 'SW1417' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('colon' and ('part_of' some 'Homo sapiens')))) 'SW1417' SubClassOf 'bearer_of' some 'colorectal adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0003693 obsolete_superficial blastomere 'obsolete_superficial blastomere' SubClassOf 'obsolete class' 'obsolete_superficial blastomere' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002360 SW1353 'SW1353' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('bone' and ('part_of' some 'Homo sapiens')))) 'SW1353' SubClassOf 'bearer_of' some 'osteosarcoma' http://www.ebi.ac.uk/efo/EFO_0003694 obsolete_pharyngeal arch 3-7 'obsolete_pharyngeal arch 3-7' SubClassOf 'obsolete class' 'obsolete_pharyngeal arch 3-7' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001032 transcription profiling 'transcription profiling' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0002363 SW1573 'SW1573' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) 'SW1573' SubClassOf 'bearer_of' some 'lung carcinoma' http://www.ebi.ac.uk/efo/EFO_0003691 obsolete_anterior lateral line system 'obsolete_anterior lateral line system' SubClassOf 'obsolete class' 'obsolete_anterior lateral line system' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001031 tiling path by array 'tiling path by array' SubClassOf 'has_participant' some 'DNA array' 'tiling path by array' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0002362 SW1463 'SW1463' SubClassOf 'cancer cell line' 'SW1463' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('rectum' and ('part_of' some 'Homo sapiens')))) 'SW1463' SubClassOf 'bearer_of' some 'colorectal adenocarcinoma' 'SW1463' SubClassOf 'colorectal cancer cell line' http://www.ebi.ac.uk/efo/EFO_0003692 obsolete_posterior lateral line system 'obsolete_posterior lateral line system' SubClassOf 'obsolete class' 'obsolete_posterior lateral line system' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_228215 Genetic dermis elastic tissue disorder 'Genetic dermis elastic tissue disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021154 http://www.ebi.ac.uk/efo/EFO_0001034 obsolete_male inflorescence 'obsolete_male inflorescence' SubClassOf 'obsolete class' 'obsolete_male inflorescence' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002365 SW1990 'SW1990' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('pancreas' and ('part_of' some 'Homo sapiens')))) 'SW1990' SubClassOf 'bearer_of' some 'pancreatic carcinoma' http://www.ebi.ac.uk/efo/EFO_0003697 obsolete_primordial midbrain channel 'obsolete_primordial midbrain channel' SubClassOf 'obsolete class' 'obsolete_primordial midbrain channel' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000851 byssinosis 'byssinosis' SubClassOf 'pneumoconiosis' 'byssinosis' SubClassOf 'pneumoconiosis' http://www.ebi.ac.uk/efo/EFO_0001033 translation profiling 'translation profiling' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'translation profiling' SubClassOf 'has_participant' some 'array' http://www.ebi.ac.uk/efo/EFO_0002364 SW1783 'SW1783' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('central nervous system' and ('part_of' some 'Homo sapiens')))) 'SW1783' SubClassOf 'bearer_of' some 'glioblastoma multiforme' http://www.ebi.ac.uk/efo/EFO_0003698 obsolete_dorsal longitudinal anastomotic vessel 'obsolete_dorsal longitudinal anastomotic vessel' SubClassOf 'obsolete class' 'obsolete_dorsal longitudinal anastomotic vessel' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000852 carcinoid syndrome 'carcinoid syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'carcinoid syndrome' SubClassOf 'disease has feature' some 'carcinoid tumor' 'carcinoid syndrome' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0002254 and ('disease has feature' some 'carcinoid tumor') http://www.ebi.ac.uk/efo/EFO_0001036 obsolete_phyllid 'obsolete_phyllid' SubClassOf 'obsolete class' 'obsolete_phyllid' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002367 SW48 'SW48' SubClassOf 'cancer cell line' 'SW48' SubClassOf 'bearer_of' some 'colorectal adenocarcinoma' 'SW48' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('colon' and ('part_of' some 'Homo sapiens')))) 'SW48' SubClassOf 'colorectal cancer cell line' http://www.ebi.ac.uk/efo/EFO_0003695 obsolete_aortic arch 'obsolete_aortic arch' SubClassOf 'obsolete class' 'obsolete_aortic arch' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001035 obsolete_female inflorescence 'obsolete_female inflorescence' SubClassOf 'obsolete class' 'obsolete_female inflorescence' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002366 SW403 'SW403' SubClassOf 'cancer cell line' 'SW403' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('colon' and ('part_of' some 'Homo sapiens')))) 'SW403' SubClassOf 'bearer_of' some 'colorectal adenocarcinoma' 'SW403' SubClassOf 'colorectal cancer cell line' http://www.ebi.ac.uk/efo/EFO_0003696 obsolete_mid cerebral vein 'obsolete_mid cerebral vein' SubClassOf 'obsolete class' 'obsolete_mid cerebral vein' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000850 burning mouth syndrome 'burning mouth syndrome' SubClassOf 'headache disorder' 'burning mouth syndrome' SubClassOf 'head and neck disorder' 'burning mouth syndrome' SubClassOf 'headache disorder' 'burning mouth syndrome' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'burning mouth syndrome' SubClassOf 'mouth disease' 'burning mouth syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'burning mouth syndrome' SubClassOf 'has_disease_location' some ('mouth' or ('part_of' some 'mouth')) 'burning mouth syndrome' SubClassOf 'head and neck disorder' http://www.ebi.ac.uk/efo/EFO_0001038 obsolete_stomatal complex 'obsolete_stomatal complex' SubClassOf 'obsolete class' 'obsolete_stomatal complex' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002369 SW684 'SW684' SubClassOf 'bearer_of' some 'fibrosarcoma' 'SW684' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('connective tissue' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0001037 leaf vascular tissue 'leaf vascular tissue' SubClassOf 'part_of' some 'leaf' http://www.ebi.ac.uk/efo/EFO_0002368 SW620 'SW620' SubClassOf 'cancer cell line' 'SW620' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('colon' and ('part_of' some 'Homo sapiens')))) 'SW620' SubClassOf 'bearer_of' some 'colorectal adenocarcinoma' 'SW620' SubClassOf 'colorectal cancer cell line' http://www.ebi.ac.uk/efo/EFO_0003699 obsolete_ventral wall of dorsal aorta 'obsolete_ventral wall of dorsal aorta' SubClassOf 'obsolete class' 'obsolete_ventral wall of dorsal aorta' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000859 cerebral arterial disease 'cerebral arterial disease' SubClassOf 'cerebrovascular disorder' 'cerebral arterial disease' SubClassOf 'cerebrovascular disorder' 'cerebral arterial disease' SubClassOf 'has_disease_location' some ('artery' or ('part_of' some 'artery')) 'cerebral arterial disease' SubClassOf 'intracranial arterial disease' http://www.orpha.net/ORDO/Orphanet_217566 Chronic respiratory distress with surfactant metabolism deficiency 'Chronic respiratory distress with surfactant metabolism deficiency' SubClassOf 'Genetic interstitial lung disease' 'Chronic respiratory distress with surfactant metabolism deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017032 'Chronic respiratory distress with surfactant metabolism deficiency' SubClassOf 'Congenital pulmonary alveolar proteinosis' http://www.orpha.net/ORDO/Orphanet_183710 Genetic susceptibility to infections due to particular pathogens 'Genetic susceptibility to infections due to particular pathogens' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0020573 and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'infectious disease') 'Genetic susceptibility to infections due to particular pathogens' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020573 'Genetic susceptibility to infections due to particular pathogens' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'infectious disease' 'Genetic susceptibility to infections due to particular pathogens' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003847 http://www.ebi.ac.uk/efo/EFO_1000857 central pontine myelinolysis 'central pontine myelinolysis' SubClassOf 'brain disease' 'central pontine myelinolysis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002562 'central pontine myelinolysis' SubClassOf 'brain disease' http://www.ebi.ac.uk/efo/EFO_1000858 cerebellum cancer 'cerebellum cancer' SubClassOf 'brain neoplasm' 'cerebellum cancer' SubClassOf 'brain neoplasm' http://www.ebi.ac.uk/efo/EFO_1000855 central core myopathy 'central core myopathy' SubClassOf 'Congenital myopathy' 'central core myopathy' SubClassOf 'Congenital myopathy' http://www.orpha.net/ORDO/Orphanet_183713 Pyogenic bacterial infections due to MyD88 deficiency 'Pyogenic bacterial infections due to MyD88 deficiency' SubClassOf 'Genetic susceptibility to infections due to particular pathogens' 'Pyogenic bacterial infections due to MyD88 deficiency' SubClassOf 'Genetic susceptibility to infections due to particular pathogens' http://www.ebi.ac.uk/efo/EFO_1000856 central neurocytoma 'central neurocytoma' SubClassOf 'cerebral ventricle cancer' 'central neurocytoma' SubClassOf 'cerebral ventricle cancer' http://www.orpha.net/ORDO/Orphanet_217563 Neonatal acute respiratory distress with surfactant metabolism deficiency 'Neonatal acute respiratory distress with surfactant metabolism deficiency' SubClassOf 'Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies' 'Neonatal acute respiratory distress with surfactant metabolism deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0012582 http://www.ebi.ac.uk/efo/EFO_1000853 carotid artery thrombosis 'carotid artery thrombosis' SubClassOf 'carotid artery disease' 'carotid artery thrombosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002907 'carotid artery thrombosis' SubClassOf 'carotid artery disease' http://www.ebi.ac.uk/efo/EFO_1000854 causalgia 'causalgia' SubClassOf 'complex regional pain syndrome' 'causalgia' SubClassOf 'complex regional pain syndrome' 'causalgia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 http://www.orpha.net/ORDO/Orphanet_314394 Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome 'Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome' SubClassOf 'Slender bone dysplasia' 'Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome' SubClassOf 'Slender bone dysplasia' http://www.ebi.ac.uk/efo/EFO_0002390 WM115 'WM115' SubClassOf 'bearer_of' some 'melanoma' 'WM115' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('zone of skin' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/UBERON_0001869 cerebral hemisphere 'cerebral hemisphere' SubClassOf 'part_of' some 'telencephalon' http://www.ebi.ac.uk/efo/EFO_0001061 cervical carcinoma 'cervical carcinoma' SubClassOf 'female reproductive system disease' 'cervical carcinoma' SubClassOf 'urogenital neoplasm' 'cervical carcinoma' SubClassOf 'carcinoma' 'cervical carcinoma' SubClassOf 'uterine carcinoma' 'cervical carcinoma' SubClassOf 'has_disease_location' some 'uterine cervix' 'cervical carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002974 http://www.ebi.ac.uk/efo/EFO_0002392 Y79 'Y79' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('eye' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0001060 celiac disease 'celiac disease' SubClassOf 'has_disease_location' only 'small intestine' 'celiac disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000588 'celiac disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024635 http://www.ebi.ac.uk/efo/EFO_0002391 obsolete_Wi38 'obsolete_Wi38' SubClassOf 'obsolete class' 'obsolete_Wi38' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93964 Blepharospasm - oromandibular dystonia 'Blepharospasm - oromandibular dystonia' SubClassOf 'Focal, segmental or multifocal dystonia' 'Blepharospasm - oromandibular dystonia' SubClassOf 'Focal, segmental or multifocal dystonia' http://www.ebi.ac.uk/efo/EFO_0002394 ovarian cancer cell lines 'ovarian cancer cell lines' EquivalentTo 'bearer_of' some ('ovarian carcinoma' or 'ovarian serous adenocarcinoma') http://www.orpha.net/ORDO/Orphanet_30391 Biliary atresia 'Biliary atresia' SubClassOf 'liver disease' 'Biliary atresia' SubClassOf 'biliary tract disease' 'Biliary atresia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001751 'Biliary atresia' SubClassOf 'Non-Neoplastic Bile Duct Disorder' 'Biliary atresia' SubClassOf 'Non-syndromic visceral malformation' 'Biliary atresia' SubClassOf 'has_disease_location' some 'bile duct' http://www.ebi.ac.uk/efo/EFO_0001062 cytomegalovirus infection 'cytomegalovirus infection' SubClassOf 'viral disease' 'cytomegalovirus infection' SubClassOf 'has_participant' some 'Human herpesvirus 5 strain Towne' 'cytomegalovirus infection' SubClassOf 'Herpesviridae infectious disease' http://www.ebi.ac.uk/efo/EFO_0002393 obsolete_YAPC 'obsolete_YAPC' SubClassOf 'obsolete class' 'obsolete_YAPC' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001065 endometriosis 'endometriosis' SubClassOf 'female reproductive system disease' 'endometriosis' SubClassOf 'has_disease_location' some 'endometrium' 'endometriosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000931 http://www.ebi.ac.uk/efo/EFO_0001064 Down syndrome 'Down syndrome' SubClassOf 'genetic disorder' 'Down syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Down syndrome' SubClassOf 'Total autosomal trisomy' 'Down syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018792 'Down syndrome' SubClassOf 'Rare syndrome with cardiac malformations' 'Down syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Down syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015652 http://www.orpha.net/ORDO/Orphanet_171703 Microcephaly - polymicrogyria - corpus callosum agenesis 'Microcephaly - polymicrogyria - corpus callosum agenesis' SubClassOf 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' 'Microcephaly - polymicrogyria - corpus callosum agenesis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016055 'Microcephaly - polymicrogyria - corpus callosum agenesis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Microcephaly - polymicrogyria - corpus callosum agenesis' SubClassOf 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' http://www.ebi.ac.uk/efo/EFO_0001067 parasitic infection 'parasitic infection' SubClassOf 'infectious disease' 'parasitic infection' SubClassOf 'infectious disease' http://www.orpha.net/ORDO/Orphanet_171706 Short stature-delayed bone age due to thyroid hormone metabolism deficiency 'Short stature-delayed bone age due to thyroid hormone metabolism deficiency' SubClassOf 'Peripheral hypothyroidism' 'Short stature-delayed bone age due to thyroid hormone metabolism deficiency' SubClassOf 'Peripheral hypothyroidism' http://www.ebi.ac.uk/efo/EFO_0001066 experimental autoimmune encephalomyelitis 'experimental autoimmune encephalomyelitis' SubClassOf 'encephalomyelitis' 'experimental autoimmune encephalomyelitis' SubClassOf 'encephalomyelitis' 'experimental autoimmune encephalomyelitis' SubClassOf 'CNS demyelinating autoimmune disease' 'experimental autoimmune encephalomyelitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000568 http://www.ebi.ac.uk/efo/EFO_0001069 nutritional disorder 'nutritional disorder' SubClassOf 'realized_in' some ('disease course' and ('has part' some 'metabolic process')) 'nutritional disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024297 http://www.ebi.ac.uk/efo/EFO_0001068 malaria 'malaria' SubClassOf 'parasitic infection' 'malaria' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002428 'malaria' SubClassOf 'liver disease' 'malaria' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'malaria' SubClassOf 'has_disease_location' some 'erythrocyte' 'malaria' SubClassOf 'has_disease_location' some 'hepatocyte' 'malaria' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043424 'malaria' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044347 'malaria' SubClassOf 'disease has feature' some http://purl.obolibrary.org/obo/MONDO_0002280 http://www.orpha.net/ORDO/Orphanet_171709 Male infertility due to globozoospermia 'Male infertility due to globozoospermia' SubClassOf 'teratozoospermia' 'Male infertility due to globozoospermia' SubClassOf 'Male infertility with teratozoospermia due to single gene mutation' 'Male infertility due to globozoospermia' SubClassOf 'realized_in' some ('disease course' and ('has_quality' some 'abnormal') and ('has_disease_location' some 'sperm')) 'Male infertility due to globozoospermia' SubClassOf 'Male infertility with teratozoospermia due to single gene mutation' http://www.orpha.net/ORDO/Orphanet_93969 Myelomeningocele 'Myelomeningocele' SubClassOf 'Spina bifida cystica' 'Myelomeningocele' SubClassOf 'Spina bifida cystica' http://www.orpha.net/ORDO/Orphanet_352636 Phalangeal microgeodic syndrome 'Phalangeal microgeodic syndrome' SubClassOf 'Primary osteolysis' 'Phalangeal microgeodic syndrome' SubClassOf 'Primary osteolysis' http://www.orpha.net/ORDO/Orphanet_352641 Autosomal recessive cerebellar ataxia with late-onset spasticity 'Autosomal recessive cerebellar ataxia with late-onset spasticity' SubClassOf 'Autosomal recessive metabolic cerebellar ataxia' 'Autosomal recessive cerebellar ataxia with late-onset spasticity' SubClassOf 'Sphingolipidosis' 'Autosomal recessive cerebellar ataxia with late-onset spasticity' SubClassOf 'Autosomal recessive metabolic cerebellar ataxia' 'Autosomal recessive cerebellar ataxia with late-onset spasticity' SubClassOf 'Rare syndromic dyslipidemia' 'Autosomal recessive cerebellar ataxia with late-onset spasticity' SubClassOf 'Developmental anomaly of metabolic origin' 'Autosomal recessive cerebellar ataxia with late-onset spasticity' SubClassOf 'Metabolic disease with dementia' 'Autosomal recessive cerebellar ataxia with late-onset spasticity' SubClassOf 'Sphingolipidosis' http://www.orpha.net/ORDO/Orphanet_79665 Gardner syndrome 'Gardner syndrome' SubClassOf 'Disease with potential neoplastic degeneration associated with ocular features' 'Gardner syndrome' SubClassOf 'Familial adenomatous polyposis' 'Gardner syndrome' SubClassOf 'Genetic eye tumor' 'Gardner syndrome' SubClassOf 'Disease with potential neoplastic degeneration associated with ocular features' 'Gardner syndrome' SubClassOf 'Familial adenomatous polyposis' http://www.orpha.net/ORDO/Orphanet_93970 Holmes-Gang syndrome 'Holmes-Gang syndrome' SubClassOf 'X-linked intellectual disability - hypotonic face' 'Holmes-Gang syndrome' SubClassOf 'X-linked intellectual disability - hypotonic face' http://www.ebi.ac.uk/efo/EFO_0001050 obsolete_stamen 'obsolete_stamen' SubClassOf 'obsolete class' 'obsolete_stamen' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002381 obsolete_THP1 'obsolete_THP1' SubClassOf 'obsolete class' 'obsolete_THP1' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93976 Anotia 'Anotia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015502 http://www.ebi.ac.uk/efo/EFO_0002380 TANOUE 'TANOUE' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'TANOUE' SubClassOf 'bearer_of' some 'acute lymphoblastic leukemia' http://www.orpha.net/ORDO/Orphanet_93975 Renier-Gabreels-Jasper syndrome 'Renier-Gabreels-Jasper syndrome' SubClassOf 'X-linked intellectual disability - hypotonic face' 'Renier-Gabreels-Jasper syndrome' SubClassOf 'X-linked intellectual disability - hypotonic face' http://purl.obolibrary.org/obo/UBERON_0001875 globus pallidus 'globus pallidus' SubClassOf 'part_of' some 'basal ganglion' 'globus pallidus' SubClassOf 'part_of' some 'cerebral hemisphere' http://www.ebi.ac.uk/efo/EFO_0001052 obsolete_plant ovary 'obsolete_plant ovary' SubClassOf 'obsolete class' 'obsolete_plant ovary' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002383 Toledo 'Toledo' SubClassOf 'bearer_of' some 'lymphoid neoplasm' 'Toledo' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.orpha.net/ORDO/Orphanet_93974 Smith-Fineman-Myers syndrome 'Smith-Fineman-Myers syndrome' SubClassOf 'X-linked intellectual disability - hypotonic face' 'Smith-Fineman-Myers syndrome' SubClassOf 'X-linked intellectual disability - hypotonic face' http://purl.obolibrary.org/obo/UBERON_0001876 amygdala 'amygdala' SubClassOf 'basal ganglion' 'amygdala' SubClassOf 'part_of' some 'temporal lobe' 'amygdala' SubClassOf 'basal ganglion' 'amygdala' SubClassOf 'part_of' some 'cerebral hemisphere' http://www.ebi.ac.uk/efo/EFO_0001051 obsolete_carpel 'obsolete_carpel' SubClassOf 'obsolete class' 'obsolete_carpel' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002382 TT 'TT' SubClassOf 'bearer_of' some 'thyroid carcinoma' 'TT' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('thyroid gland' and ('part_of' some 'Homo sapiens')))) http://www.orpha.net/ORDO/Orphanet_93973 Carpenter-Waziri syndrome 'Carpenter-Waziri syndrome' SubClassOf 'X-linked intellectual disability - hypotonic face' 'Carpenter-Waziri syndrome' SubClassOf 'X-linked intellectual disability - hypotonic face' http://www.ebi.ac.uk/efo/EFO_0001054 leprosy 'leprosy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016104 'leprosy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000314 'leprosy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018396 'leprosy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020590 'leprosy' SubClassOf 'has_participant' some 'Mycobacterium leprae' http://www.ebi.ac.uk/efo/EFO_0002385 UACC893 'UACC893' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('mammary gland' and ('part_of' some 'Homo sapiens')))) 'UACC893' SubClassOf 'bearer_of' some 'breast carcinoma' http://www.orpha.net/ORDO/Orphanet_93972 Juberg-Marsidi syndrome 'Juberg-Marsidi syndrome' SubClassOf 'Syndromic urogenital tract malformation' 'Juberg-Marsidi syndrome' SubClassOf 'X-linked intellectual disability - hypotonic face' 'Juberg-Marsidi syndrome' SubClassOf 'Syndromic urogenital tract malformation' 'Juberg-Marsidi syndrome' SubClassOf 'X-linked intellectual disability - hypotonic face' http://www.ebi.ac.uk/efo/EFO_0001053 obsolete_stigma 'obsolete_stigma' SubClassOf 'obsolete class' 'obsolete_stigma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002384 obsolete_U266B1 'obsolete_U266B1' SubClassOf 'obsolete class' 'obsolete_U266B1' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_363300 Genetic intractable diarrhea of infancy 'Genetic intractable diarrhea of infancy' SubClassOf 'intestinal disease' 'Genetic intractable diarrhea of infancy' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://www.orpha.net/ORDO/Orphanet_171714 Amish infantile epilepsy syndrome 'Amish infantile epilepsy syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018274 http://www.orpha.net/ORDO/Orphanet_93971 Chudley-Lowry-Hoar syndrome 'Chudley-Lowry-Hoar syndrome' SubClassOf 'X-linked intellectual disability - hypotonic face' 'Chudley-Lowry-Hoar syndrome' SubClassOf 'X-linked intellectual disability - hypotonic face' http://www.ebi.ac.uk/efo/EFO_0001056 tuberculoid leprosy 'tuberculoid leprosy' SubClassOf 'leprosy' 'tuberculoid leprosy' SubClassOf 'leprosy' http://www.ebi.ac.uk/efo/EFO_0002387 obsolete_UMUC3 'obsolete_UMUC3' SubClassOf 'obsolete class' 'obsolete_UMUC3' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001055 borderline leprosy 'borderline leprosy' SubClassOf 'leprosy' 'borderline leprosy' SubClassOf 'leprosy' http://www.ebi.ac.uk/efo/EFO_0002386 UMC11 'UMC11' SubClassOf 'bearer_of' some 'lung carcinoma' 'UMC11' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0001058 sensory system disease 'sensory system disease' SubClassOf 'nervous system disease' 'sensory system disease' SubClassOf 'nervous system disease' http://www.ebi.ac.uk/efo/EFO_0002389 WIDR 'WIDR' SubClassOf 'cancer cell line' 'WIDR' SubClassOf 'colorectal cancer cell line' 'WIDR' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('colon' and ('part_of' some 'Homo sapiens')))) 'WIDR' SubClassOf 'bearer_of' some 'colorectal adenocarcinoma' http://www.orpha.net/ORDO/Orphanet_171719 Cutis laxa-Marfanoid syndrome 'Cutis laxa-Marfanoid syndrome' SubClassOf 'Malformation syndrome with connective tissue involvement' 'Cutis laxa-Marfanoid syndrome' SubClassOf 'Malformation syndrome with connective tissue involvement' http://www.ebi.ac.uk/efo/EFO_0001057 lepromatous leprosy 'lepromatous leprosy' SubClassOf 'leprosy' 'lepromatous leprosy' SubClassOf 'leprosy' http://www.ebi.ac.uk/efo/EFO_0001059 cataract 'cataract' SubClassOf 'eye disease' 'cataract' SubClassOf 'sensory system disease' 'cataract' SubClassOf 'lens disease' 'cataract' SubClassOf 'has_disease_location' some 'eye' http://www.orpha.net/ORDO/Orphanet_352649 Brain dopamine-serotonin vesicular transport disease 'Brain dopamine-serotonin vesicular transport disease' SubClassOf 'Persistent combined dystonia' 'Brain dopamine-serotonin vesicular transport disease' SubClassOf 'Disorder of neurotransmitter metabolism and transport' 'Brain dopamine-serotonin vesicular transport disease' SubClassOf 'Persistent combined dystonia' 'Brain dopamine-serotonin vesicular transport disease' SubClassOf 'Disorder of neurotransmitter metabolism and transport' http://www.orpha.net/ORDO/Orphanet_352657 Hereditary benign intraepithelial dyskeratosis 'Hereditary benign intraepithelial dyskeratosis' SubClassOf 'Superficial corneal dystrophy' 'Hereditary benign intraepithelial dyskeratosis' SubClassOf 'Superficial corneal dystrophy' 'Hereditary benign intraepithelial dyskeratosis' SubClassOf 'Syndromic corneal dystrophy' http://www.orpha.net/ORDO/Orphanet_352654 Early-onset progressive neurodegeneration - blindness - ataxia - spasticity 'Early-onset progressive neurodegeneration - blindness - ataxia - spasticity' SubClassOf 'Genetic neurodegenerative disease' 'Early-onset progressive neurodegeneration - blindness - ataxia - spasticity' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001835 'Early-onset progressive neurodegeneration - blindness - ataxia - spasticity' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018609 'Early-onset progressive neurodegeneration - blindness - ataxia - spasticity' SubClassOf 'Complex hereditary spastic paraplegia' 'Early-onset progressive neurodegeneration - blindness - ataxia - spasticity' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004884 http://purl.obolibrary.org/obo/UBERON_0001871 temporal lobe 'temporal lobe' SubClassOf 'part_of' some 'cerebral cortex' http://purl.obolibrary.org/obo/UBERON_0001872 parietal lobe 'parietal lobe' SubClassOf 'part_of' some 'cerebral cortex' http://purl.obolibrary.org/obo/UBERON_0001873 caudate nucleus 'caudate nucleus' SubClassOf 'part_of' some 'caudate-putamen' 'caudate nucleus' SubClassOf 'part_of' some 'cerebral hemisphere' http://www.orpha.net/ORDO/Orphanet_79651 Mild hyperphenylalaninemia 'Mild hyperphenylalaninemia' SubClassOf 'Phenylketonuria' 'Mild hyperphenylalaninemia' SubClassOf 'Phenylketonuria' http://purl.obolibrary.org/obo/UBERON_0001874 putamen 'putamen' SubClassOf 'part_of' some 'cerebral hemisphere' 'putamen' SubClassOf 'part_of' some 'corpus striatum' 'putamen' SubClassOf 'part_of' some 'caudate-putamen' http://www.orpha.net/ORDO/Orphanet_54370 Primary membranoproliferative glomerulonephritis 'Primary membranoproliferative glomerulonephritis' SubClassOf 'Primary glomerular disease' 'Primary membranoproliferative glomerulonephritis' SubClassOf 'Primary glomerular disease' 'Primary membranoproliferative glomerulonephritis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002462 http://purl.obolibrary.org/obo/UBERON_0001870 frontal cortex 'frontal cortex' SubClassOf 'part_of' some 'cerebral cortex' http://www.ebi.ac.uk/efo/EFO_0001081 267B1 Ki-ras '267B1 Ki-ras' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('prostate gland' and ('part_of' some 'organism')))) http://www.orpha.net/ORDO/Orphanet_363314 Genetic intestinal polyposis 'Genetic intestinal polyposis' SubClassOf 'Genetic digestive tract tumor' 'Genetic intestinal polyposis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021118 'Genetic intestinal polyposis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000147 http://www.ebi.ac.uk/efo/EFO_0001080 267B1 '267B1' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('prostate gland' and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_0001083 293TsiLL '293TsiLL' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('kidney' and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_0001082 293T '293T' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('kidney' and ('part_of' some 'organism')))) http://purl.obolibrary.org/obo/UBERON_0001886 choroid plexus 'choroid plexus' SubClassOf 'vasculature of brain' 'choroid plexus' SubClassOf 'vasculature of brain' 'choroid plexus' SubClassOf http://purl.obolibrary.org/obo/UBERON_0005629 'choroid plexus' SubClassOf 'part_of' some 'brain ventricle' 'choroid plexus' DisjointWith http://purl.obolibrary.org/obo/UBERON_0010078 http://www.ebi.ac.uk/efo/EFO_0001085 600MPE '600MPE' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('mammary gland' and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_0001084 3T3-L1 '3T3-L1' SubClassOf 'derives_from' some ('fibroblast' and ('part_of' some ('embryo' and ('part_of' some 'Mus musculus')))) http://www.ebi.ac.uk/efo/EFO_0001087 AU565 'AU565' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('mammary gland' and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_0001086 A549 'A549' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) 'A549' SubClassOf 'bearer_of' some 'non-small cell lung adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0001089 BEAS-2B 'BEAS-2B' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('bronchus' and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_0001088 obsolete_Beas2B 'obsolete_Beas2B' SubClassOf 'obsolete class' 'obsolete_Beas2B' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_352662 Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis 'Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis' SubClassOf 'Superficial corneal dystrophy' 'Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis' SubClassOf 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' 'Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis' SubClassOf 'Superficial corneal dystrophy' 'Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis' SubClassOf 'Rare genetic neurological disorder' 'Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis' SubClassOf 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' http://www.orpha.net/ORDO/Orphanet_79644 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency 'Autosomal recessive hyperinsulinism due to Kir6.2 deficiency' SubClassOf 'Diazoxide-resistant diffuse hyperinsulinism' 'Autosomal recessive hyperinsulinism due to Kir6.2 deficiency' SubClassOf 'Diazoxide-resistant diffuse hyperinsulinism' 'Autosomal recessive hyperinsulinism due to Kir6.2 deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0011153 http://www.orpha.net/ORDO/Orphanet_79643 Autosomal recessive hyperinsulinism due to SUR1 deficiency 'Autosomal recessive hyperinsulinism due to SUR1 deficiency' SubClassOf 'Diazoxide-resistant diffuse hyperinsulinism' 'Autosomal recessive hyperinsulinism due to SUR1 deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0009734 'Autosomal recessive hyperinsulinism due to SUR1 deficiency' SubClassOf 'Diazoxide-resistant diffuse hyperinsulinism' http://purl.obolibrary.org/obo/UBERON_0001882 nucleus accumbens 'nucleus accumbens' SubClassOf 'part_of' some 'cerebral hemisphere' 'nucleus accumbens' SubClassOf 'part_of' some 'ventral striatum' http://purl.obolibrary.org/obo/UBERON_0001885 dentate gyrus of hippocampal formation 'dentate gyrus of hippocampal formation' SubClassOf 'cerebral cortex' 'dentate gyrus of hippocampal formation' SubClassOf 'cerebral cortex' http://www.orpha.net/ORDO/Orphanet_363306 Genetic intestinal disease due to fat malabsorption 'Genetic intestinal disease due to fat malabsorption' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://purl.obolibrary.org/obo/UBERON_0001880 bed nucleus of stria terminalis 'bed nucleus of stria terminalis' SubClassOf 'part_of' some 'cerebral hemisphere' http://www.ebi.ac.uk/efo/EFO_0001090 BJABK3 'BJABK3' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('organism part' and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_0001072 memory impairment 'memory impairment' SubClassOf 'inheres_in' some 'brain' http://www.ebi.ac.uk/efo/EFO_0001071 lung carcinoma 'lung carcinoma' SubClassOf 'carcinoma' 'lung carcinoma' SubClassOf 'lung disease' 'lung carcinoma' SubClassOf 'respiratory system neoplasm' 'lung carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0008903 'lung carcinoma' SubClassOf 'carcinoma' 'lung carcinoma' SubClassOf 'has_disease_location' some 'lung' http://purl.obolibrary.org/obo/UBERON_0001897 dorsal plus ventral thalamus 'dorsal plus ventral thalamus' SubClassOf 'part_of' some 'brain' http://www.ebi.ac.uk/efo/EFO_0001074 morbid obesity 'morbid obesity' SubClassOf 'obesity' 'morbid obesity' SubClassOf 'obesity' http://www.orpha.net/ORDO/Orphanet_90001 X-linked cone dysfunction syndrome with myopia 'X-linked cone dysfunction syndrome with myopia' SubClassOf 'Syndromic myopia' 'X-linked cone dysfunction syndrome with myopia' SubClassOf 'Syndromic myopia' http://www.ebi.ac.uk/efo/EFO_0001073 obesity 'obesity' SubClassOf 'metabolic disease' 'obesity' SubClassOf 'has_about_it' some 'body mass index' 'obesity' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003916 http://purl.obolibrary.org/obo/UBERON_0001898 hypothalamus 'hypothalamus' SubClassOf 'part_of' some 'diencephalon' http://purl.obolibrary.org/obo/UBERON_0001899 epithalamus 'epithalamus' SubClassOf 'part_of' some 'diencephalon' http://www.ebi.ac.uk/efo/EFO_0001076 Pseudomonas infection 'Pseudomonas infection' SubClassOf 'bacterial disease' 'Pseudomonas infection' SubClassOf 'bacterial disease' http://www.ebi.ac.uk/efo/EFO_0001075 ovarian carcinoma 'ovarian carcinoma' SubClassOf 'Malignant epithelial tumor of ovary' 'ovarian carcinoma' SubClassOf 'carcinoma' 'ovarian carcinoma' SubClassOf 'has_disease_location' some 'female gonad' 'ovarian carcinoma' SubClassOf 'Malignant epithelial tumor of ovary' http://www.ebi.ac.uk/efo/EFO_0001078 Pseudomonas aeruginosa PA14 infection 'Pseudomonas aeruginosa PA14 infection' SubClassOf 'Pseudomonas infection' 'Pseudomonas aeruginosa PA14 infection' SubClassOf http://purl.obolibrary.org/obo/MONDO_0040732 http://www.ebi.ac.uk/efo/EFO_0001077 Pseudomonas aeruginosa CF5 infection 'Pseudomonas aeruginosa CF5 infection' SubClassOf 'Pseudomonas infection' 'Pseudomonas aeruginosa CF5 infection' SubClassOf http://purl.obolibrary.org/obo/MONDO_0040732 http://www.ebi.ac.uk/efo/EFO_0001079 obsolete_Rett syndrome 'obsolete_Rett syndrome' SubClassOf 'obsolete class' 'obsolete_Rett syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_352675 X-linked Charcot-Marie-Tooth disease type 6 'X-linked Charcot-Marie-Tooth disease type 6' SubClassOf 'X-linked Charcot-Marie-Tooth disease' 'X-linked Charcot-Marie-Tooth disease type 6' SubClassOf 'X-linked Charcot-Marie-Tooth disease' http://purl.obolibrary.org/obo/UBERON_0001893 telencephalon 'telencephalon' SubClassOf 'part_of' some 'forebrain' http://purl.obolibrary.org/obo/UBERON_0001894 diencephalon 'diencephalon' SubClassOf 'immediate_transformation_of' some 'embryonic structure' 'diencephalon' SubClassOf 'part_of' some 'forebrain' http://www.orpha.net/ORDO/Orphanet_352670 Autosomal dominant intermediate Charcot-Marie-Tooth disease type F 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type F' SubClassOf 'Autosomal dominant intermediate Charcot-Marie-Tooth disease' 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type F' SubClassOf 'Autosomal dominant intermediate Charcot-Marie-Tooth disease' http://purl.obolibrary.org/obo/UBERON_0001896 medulla oblongata 'medulla oblongata' SubClassOf 'part_of' some 'hindbrain' 'medulla oblongata' SubClassOf 'part_of' some 'brainstem' http://purl.obolibrary.org/obo/UBERON_0001890 forebrain 'forebrain' SubClassOf 'part_of' some 'brain' 'forebrain' SubClassOf 'develops_from' some 'nervous system' 'forebrain' SubClassOf 'develops_from' some 'neural rod' 'forebrain' SubClassOf 'develops_from' some 'primordium' http://purl.obolibrary.org/obo/UBERON_0001891 midbrain 'midbrain' SubClassOf 'develops_from' some 'presumptive midbrain' 'midbrain' SubClassOf 'part_of' some 'brain' http://purl.obolibrary.org/obo/UBERON_0001892 rhombomere 'rhombomere' SubClassOf 'part_of' some 'embryonic structure' 'rhombomere' SubClassOf 'part_of' some 'primordium' 'rhombomere' SubClassOf 'part_of' some 'hindbrain' http://www.orpha.net/ORDO/Orphanet_93921 Neurofibromatosis type 3 'Neurofibromatosis type 3' SubClassOf 'Genetic hyperpigmentation of the skin' 'Neurofibromatosis type 3' SubClassOf 'Inherited cancer-predisposing syndrome' 'Neurofibromatosis type 3' SubClassOf 'Malformation syndrome with hamartosis' 'Neurofibromatosis type 3' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Neurofibromatosis type 3' SubClassOf 'schwannoma' 'Neurofibromatosis type 3' SubClassOf 'Genetic skin tumor' 'Neurofibromatosis type 3' SubClassOf 'neurofibromatosis' 'Neurofibromatosis type 3' SubClassOf 'Genetic hyperpigmentation of the skin' 'Neurofibromatosis type 3' SubClassOf 'skin carcinoma' 'Neurofibromatosis type 3' SubClassOf 'Malformation syndrome with hamartosis' http://purl.obolibrary.org/obo/UBERON_0001820 sweat gland 'sweat gland' SubClassOf 'gland' 'sweat gland' SubClassOf 'part_of' some 'epidermis' 'sweat gland' SubClassOf http://purl.obolibrary.org/obo/UBERON_0007771 'sweat gland' SubClassOf http://purl.obolibrary.org/obo/UBERON_0019319 http://www.orpha.net/ORDO/Orphanet_93929 Cloacal exstrophy 'Cloacal exstrophy' SubClassOf 'Exstrophy-epispadias complex' 'Cloacal exstrophy' SubClassOf 'Syndromic anorectal malformation' 'Cloacal exstrophy' SubClassOf 'Syndromic renal or urinary tract malformation' 'Cloacal exstrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015216 'Cloacal exstrophy' SubClassOf 'Exstrophy-epispadias complex' 'Cloacal exstrophy' SubClassOf 'Isolated anorectal malformation' 'Cloacal exstrophy' SubClassOf 'Syndromic anorectal malformation' 'Cloacal exstrophy' SubClassOf 'Syndromic urogenital tract malformation' http://www.orpha.net/ORDO/Orphanet_93928 Epispadias 'Epispadias' SubClassOf 'Exstrophy-epispadias complex' 'Epispadias' SubClassOf 'Exstrophy-epispadias complex' http://purl.obolibrary.org/obo/UBERON_0001828 gingiva 'gingiva' SubClassOf 'animal component' 'gingiva' SubClassOf 'mouth mucosa' 'gingiva' SubClassOf 'part_of' some 'mouth' http://www.orpha.net/ORDO/Orphanet_93926 Midline interhemispheric variant of holoprosencephaly 'Midline interhemispheric variant of holoprosencephaly' SubClassOf 'Holoprosencephaly' 'Midline interhemispheric variant of holoprosencephaly' SubClassOf 'Holoprosencephaly' http://www.orpha.net/ORDO/Orphanet_93925 Alobar holoprosencephaly 'Alobar holoprosencephaly' SubClassOf 'Holoprosencephaly' 'Alobar holoprosencephaly' SubClassOf 'Holoprosencephaly' http://www.orpha.net/ORDO/Orphanet_93924 Lobar holoprosencephaly 'Lobar holoprosencephaly' SubClassOf 'Holoprosencephaly' 'Lobar holoprosencephaly' SubClassOf 'Holoprosencephaly' http://www.orpha.net/ORDO/Orphanet_352687 Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies 'Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies' SubClassOf 'Congenital muscular dystrophy due to dystroglycanopathy' 'Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies' SubClassOf 'Cobblestone lissencephaly' 'Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies' SubClassOf 'Congenital muscular dystrophy due to dystroglycanopathy' 'Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies' SubClassOf 'Cobblestone lissencephaly' http://www.orpha.net/ORDO/Orphanet_352682 Cobblestone lissencephaly without muscular or ocular involvement 'Cobblestone lissencephaly without muscular or ocular involvement' SubClassOf 'Cobblestone lissencephaly' 'Cobblestone lissencephaly without muscular or ocular involvement' SubClassOf 'Cobblestone lissencephaly' http://www.ebi.ac.uk/efo/EFO_0001092 BT20 'BT20' SubClassOf 'bearer_of' some 'breast carcinoma' 'BT20' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0001091 BL41K3 'BL41K3' SubClassOf 'bearer_of' some 'Burkitts lymphoma' 'BL41K3' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_0001093 BT474 'BT474' SubClassOf 'bearer_of' some 'breast carcinoma' 'BT474' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/UBERON_0001831 parotid gland 'parotid gland' SubClassOf 'gland' 'parotid gland' DisjointWith http://purl.obolibrary.org/obo/UBERON_0013219 'parotid gland' SubClassOf http://purl.obolibrary.org/obo/UBERON_0000409 'parotid gland' SubClassOf 'develops_from' some 'primordium' 'parotid gland' SubClassOf 'part_of' some 'digestive system' 'parotid gland' SubClassOf http://purl.obolibrary.org/obo/UBERON_0001829 'parotid gland' SubClassOf http://purl.obolibrary.org/obo/UBERON_0012102 'parotid gland' SubClassOf 'part_of' some 'mouth' http://www.ebi.ac.uk/efo/EFO_0001096 BT549 'BT549' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'BT549' SubClassOf 'bearer_of' some 'breast carcinoma' http://www.orpha.net/ORDO/Orphanet_93930 Bladder exstrophy 'Bladder exstrophy' SubClassOf 'Exstrophy-epispadias complex' 'Bladder exstrophy' SubClassOf 'Exstrophy-epispadias complex' http://www.ebi.ac.uk/efo/EFO_0001095 BT483 'BT483' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'BT483' SubClassOf 'bearer_of' some 'breast carcinoma' http://www.ebi.ac.uk/efo/EFO_0001098 C2C12 'C2C12' SubClassOf 'derives_from' some ('myoblast' and ('part_of' some ('musculature' and ('part_of' some 'Mus musculus')))) http://www.ebi.ac.uk/efo/EFO_0001099 Caco-2 'Caco-2' SubClassOf 'cancer cell line' 'Caco-2' SubClassOf 'has_quality' some 'male' 'Caco-2' SubClassOf 'colorectal cancer cell line' 'Caco-2' SubClassOf 'is_input_of' some 'ENCODE functional genome mapping' 'Caco-2' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('colon' and ('part_of' some 'organism')))) 'Caco-2' SubClassOf 'bearer_of' some 'colorectal adenocarcinoma' http://www.orpha.net/ORDO/Orphanet_93937 Terminal transverse defects of arm 'Terminal transverse defects of arm' SubClassOf 'Amniotic bands' 'Terminal transverse defects of arm' SubClassOf 'Constriction rings syndrome' http://purl.obolibrary.org/obo/CHEBI_28297 hydantoin-5-propionic acid 'hydantoin-5-propionic acid' SubClassOf 'acid' 'hydantoin-5-propionic acid' SubClassOf 'acid' http://www.orpha.net/ORDO/Orphanet_289176 Autosomal recessive hypophosphatemic rickets 'Autosomal recessive hypophosphatemic rickets' SubClassOf 'autosomal recessive disease' 'Autosomal recessive hypophosphatemic rickets' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000044 http://purl.obolibrary.org/obo/CHEBI_42588 4-hydroxyphenyl retinamide '4-hydroxyphenyl retinamide' SubClassOf 'has_role' some 'antineoplastic agent' http://purl.obolibrary.org/obo/UBERON_0001846 internal ear 'internal ear' SubClassOf 'part_of' some 'head' 'internal ear' SubClassOf 'part_of' some 'ear' 'internal ear' SubClassOf 'part_of' some 'sensory system' 'internal ear' SubClassOf 'develops_from' some 'otic placode' http://www.orpha.net/ORDO/Orphanet_602 Distal myopathy, Nonaka type 'Distal myopathy, Nonaka type' SubClassOf 'Autosomal recessive distal myopathy' 'Distal myopathy, Nonaka type' SubClassOf 'Disorder of multiple glycosylation' 'Distal myopathy, Nonaka type' SubClassOf 'Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -' 'Distal myopathy, Nonaka type' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 'Distal myopathy, Nonaka type' SubClassOf 'Inclusion myopathy' 'Distal myopathy, Nonaka type' SubClassOf 'Autosomal recessive distal myopathy' 'Distal myopathy, Nonaka type' SubClassOf 'Disorder of multiple glycosylation' 'Distal myopathy, Nonaka type' SubClassOf 'Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -' 'Distal myopathy, Nonaka type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018795 'Distal myopathy, Nonaka type' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 'Distal myopathy, Nonaka type' SubClassOf 'Inclusion myopathy' 'Distal myopathy, Nonaka type' SubClassOf 'inclusion body myositis' http://www.orpha.net/ORDO/Orphanet_93945 X-linked intellectual disability, Porteous type 'X-linked intellectual disability, Porteous type' SubClassOf 'Renpenning syndrome' 'X-linked intellectual disability, Porteous type' SubClassOf 'Renpenning syndrome' http://www.orpha.net/ORDO/Orphanet_600 Distal myopathy with vocal cord weakness 'Distal myopathy with vocal cord weakness' SubClassOf 'Autosomal dominant distal myopathy' 'Distal myopathy with vocal cord weakness' SubClassOf 'Autosomal dominant distal myopathy' http://purl.obolibrary.org/obo/UBERON_0001844 cochlea 'cochlea' SubClassOf 'part_of' some 'internal ear' 'cochlea' SubClassOf 'develops_from' some 'head mesenchyme' 'cochlea' SubClassOf 'develops_from' some 'paraxial mesoderm' 'cochlea' SubClassOf 'develops_from' some 'skeletal system' 'cochlea' SubClassOf 'develops_from' some 'presumptive neural plate' 'cochlea' SubClassOf 'part_of' some 'cranium' http://www.orpha.net/ORDO/Orphanet_93947 X-linked intellectual disability, Golabi-Ito-Hall type 'X-linked intellectual disability, Golabi-Ito-Hall type' SubClassOf 'Renpenning syndrome' 'X-linked intellectual disability, Golabi-Ito-Hall type' SubClassOf 'Renpenning syndrome' http://www.orpha.net/ORDO/Orphanet_93946 Hamel cerebro-palato-cardiac syndrome 'Hamel cerebro-palato-cardiac syndrome' SubClassOf 'Renpenning syndrome' 'Hamel cerebro-palato-cardiac syndrome' SubClassOf 'Renpenning syndrome' http://purl.obolibrary.org/obo/CHEBI_28262 dimethyl sulfoxide 'dimethyl sulfoxide' SubClassOf ('has_role' some 'alkylating agent role') or ('has_role' some 'polar aprotic solvent role') http://www.orpha.net/ORDO/Orphanet_612 Potassium-aggravated myotonia 'Potassium-aggravated myotonia' SubClassOf 'Myotonic syndrome' 'Potassium-aggravated myotonia' SubClassOf 'muscular channelopathy' 'Potassium-aggravated myotonia' SubClassOf 'Myotonic syndrome' http://www.orpha.net/ORDO/Orphanet_610 Bethlem myopathy 'Bethlem myopathy' SubClassOf 'Qualitative or quantitative defects of collagen 6' 'Bethlem myopathy' SubClassOf 'Congenital muscular dystrophy' 'Bethlem myopathy' SubClassOf 'Progressive muscular dystrophy' 'Bethlem myopathy' SubClassOf 'Qualitative or quantitative defects of collagen 6' 'Bethlem myopathy' SubClassOf 'Congenital muscular dystrophy' 'Bethlem myopathy' SubClassOf 'contracture' 'Bethlem myopathy' SubClassOf 'Progressive muscular dystrophy' http://www.orpha.net/ORDO/Orphanet_93952 X-linked intellectual disability, Hedera type 'X-linked intellectual disability, Hedera type' SubClassOf 'X-linked intellectual disability - epilepsy' 'X-linked intellectual disability, Hedera type' SubClassOf 'X-linked intellectual disability - epilepsy' http://www.orpha.net/ORDO/Orphanet_93951 X-linked dominant intellectual disability - epilepsy syndrome 'X-linked dominant intellectual disability - epilepsy syndrome' SubClassOf 'X-linked intellectual disability - epilepsy' 'X-linked dominant intellectual disability - epilepsy syndrome' SubClassOf 'X-linked intellectual disability - epilepsy' http://www.orpha.net/ORDO/Orphanet_93950 X-linked intellectual disability, Sutherland-Haan type 'X-linked intellectual disability, Sutherland-Haan type' SubClassOf 'Renpenning syndrome' 'X-linked intellectual disability, Sutherland-Haan type' SubClassOf 'Renpenning syndrome' http://www.orpha.net/ORDO/Orphanet_93958 Oromandibular dystonia 'Oromandibular dystonia' SubClassOf 'Focal, segmental or multifocal dystonia' 'Oromandibular dystonia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000477 'Oromandibular dystonia' SubClassOf 'Focal, segmental or multifocal dystonia' http://www.orpha.net/ORDO/Orphanet_609 Tibial muscular dystrophy 'Tibial muscular dystrophy' SubClassOf 'Autosomal dominant distal myopathy' 'Tibial muscular dystrophy' SubClassOf 'Qualitative or quantitative defects of titin' 'Tibial muscular dystrophy' SubClassOf 'Autosomal dominant distal myopathy' 'Tibial muscular dystrophy' SubClassOf 'Qualitative or quantitative defects of titin' http://www.orpha.net/ORDO/Orphanet_607 Nemaline myopathy 'Nemaline myopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002921 'Nemaline myopathy' SubClassOf 'Non-dystrophic myopathy' http://www.orpha.net/ORDO/Orphanet_606 Proximal myotonic myopathy 'Proximal myotonic myopathy' SubClassOf 'Myotonic dystrophy' 'Proximal myotonic myopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020169 'Proximal myotonic myopathy' SubClassOf 'Myotonic dystrophy' 'Proximal myotonic myopathy' SubClassOf 'Myopathy with eye involvement' http://www.orpha.net/ORDO/Orphanet_603 Distal myopathy, Welander type 'Distal myopathy, Welander type' SubClassOf 'Autosomal dominant distal myopathy' 'Distal myopathy, Welander type' SubClassOf 'Autosomal dominant distal myopathy' http://www.orpha.net/ORDO/Orphanet_314404 Autosomal dominant cerebellar ataxia, deafness and narcolepsy 'Autosomal dominant cerebellar ataxia, deafness and narcolepsy' SubClassOf 'Syndromic genetic deafness' 'Autosomal dominant cerebellar ataxia, deafness and narcolepsy' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' 'Autosomal dominant cerebellar ataxia, deafness and narcolepsy' SubClassOf 'Syndromic genetic deafness' 'Autosomal dominant cerebellar ataxia, deafness and narcolepsy' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' 'Autosomal dominant cerebellar ataxia, deafness and narcolepsy' SubClassOf 'Sleep Disorder' http://purl.obolibrary.org/obo/CHEBI_28125 all-cis-docosa-4,7,10,13,16,19-hexaenoic acid 'all-cis-docosa-4,7,10,13,16,19-hexaenoic acid' SubClassOf 'has_role' some 'nutraceutical' http://purl.obolibrary.org/obo/UBERON_0000376 thigh 'thigh' SubClassOf 'part_of' some 'leg' 'thigh' SubClassOf 'stylopod' http://purl.obolibrary.org/obo/CLO_0030337 GM15072 'GM15072' SubClassOf 'cultured cell' 'GM15072' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/CLO_0031668 GM14584 'GM14584' SubClassOf 'has_quality' some 'male' 'GM14584' SubClassOf 'cultured cell' 'GM14584' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/CLO_0031666 GM14582 'GM14582' SubClassOf 'has_quality' some 'male' 'GM14582' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM14582' SubClassOf 'cultured cell' http://www.orpha.net/ORDO/Orphanet_79499 Autosomal dominant deafness-onychodystrophy syndrome 'Autosomal dominant deafness-onychodystrophy syndrome' SubClassOf 'Deafness-onychodystrophy syndrome' 'Autosomal dominant deafness-onychodystrophy syndrome' SubClassOf 'Deafness-onychodystrophy syndrome' 'Autosomal dominant deafness-onychodystrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 http://purl.obolibrary.org/obo/CHEBI_28135 ponasterone A 'ponasterone A' SubClassOf 'has_role' some 'steroid hormone' http://www.orpha.net/ORDO/Orphanet_228190 Patent ductus arteriosus - bicuspid aortic valve - hand anomalies 'Patent ductus arteriosus - bicuspid aortic valve - hand anomalies' SubClassOf 'Rare syndrome with cardiac malformations' 'Patent ductus arteriosus - bicuspid aortic valve - hand anomalies' SubClassOf 'Heart-hand syndrome' 'Patent ductus arteriosus - bicuspid aortic valve - hand anomalies' SubClassOf 'Rare syndrome with cardiac malformations' 'Patent ductus arteriosus - bicuspid aortic valve - hand anomalies' SubClassOf 'Heart-hand syndrome' http://www.orpha.net/ORDO/Orphanet_79495 X-linked congenital generalized hypertrichosis 'X-linked congenital generalized hypertrichosis' SubClassOf 'Hypertrichosis lanuginosa congenita' 'X-linked congenital generalized hypertrichosis' SubClassOf 'Hypertrichosis lanuginosa congenita' http://purl.obolibrary.org/obo/UBERON_0000382 apocrine sweat gland 'apocrine sweat gland' DisjointWith 'eccrine sweat gland' 'apocrine sweat gland' SubClassOf 'part_of' some 'epidermis' 'apocrine sweat gland' SubClassOf http://purl.obolibrary.org/obo/UBERON_0010243 http://purl.obolibrary.org/obo/CHEBI_43755 lisinopril 'lisinopril' SubClassOf 'has_role' some 'angiotensin-converting enzyme inhibitor' 'lisinopril' SubClassOf 'has_role' some 'drug role' http://www.orpha.net/ORDO/Orphanet_79493 Brooke-Spiegler syndrome 'Brooke-Spiegler syndrome' SubClassOf 'Palpebral piliary tumor' 'Brooke-Spiegler syndrome' SubClassOf 'Genetic skin tumor' 'Brooke-Spiegler syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 'Brooke-Spiegler syndrome' SubClassOf 'Palpebral piliary tumor' 'Brooke-Spiegler syndrome' SubClassOf 'Genetic eye tumor' 'Brooke-Spiegler syndrome' SubClassOf 'Genetic skin tumor' http://www.orpha.net/ORDO/Orphanet_79492 Pili gemini 'Pili gemini' SubClassOf 'Isolated hair shaft abnormality' 'Pili gemini' SubClassOf 'Isolated hair shaft abnormality' http://purl.obolibrary.org/obo/CHEBI_16150 benzoate 'benzoate' SubClassOf 'chemical entity' 'benzoate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_31746 kainic acid 'kainic acid' SubClassOf ('has_role' some 'antinematodal drug') or ('has_role' some 'excitatory amino acid agonist') http://purl.obolibrary.org/obo/CLO_0031665 GM14583 'GM14583' SubClassOf 'has_quality' some 'male' 'GM14583' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM14583' SubClassOf 'cultured cell' http://purl.obolibrary.org/obo/CLO_0030324 GM15061 'GM15061' SubClassOf 'cultured cell' 'GM15061' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/HP_0000103 polyuria 'polyuria' EquivalentTo 'has part' some ('increased rate' and ('inheres_in' some 'micturition')) http://purl.obolibrary.org/obo/CLO_0030328 GM15056 'GM15056' SubClassOf 'cultured cell' 'GM15056' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://www.orpha.net/ORDO/Orphanet_79484 Phakomatosis cesiomarmorata 'Phakomatosis cesiomarmorata' SubClassOf 'Phakomatosis pigmentovascularis' 'Phakomatosis cesiomarmorata' SubClassOf 'Phakomatosis pigmentovascularis' http://www.orpha.net/ORDO/Orphanet_79483 Phakomatosis cesioflammea 'Phakomatosis cesioflammea' SubClassOf 'Phakomatosis pigmentovascularis' 'Phakomatosis cesioflammea' SubClassOf 'Phakomatosis pigmentovascularis' http://www.orpha.net/ORDO/Orphanet_79485 Phakomatosis spilorosea 'Phakomatosis spilorosea' SubClassOf 'Phakomatosis pigmentovascularis' 'Phakomatosis spilorosea' SubClassOf 'Phakomatosis pigmentovascularis' http://www.orpha.net/ORDO/Orphanet_352709 CLN13 disease 'CLN13 disease' SubClassOf 'Adult neuronal ceroid lipofuscinosis' 'CLN13 disease' SubClassOf 'Adult neuronal ceroid lipofuscinosis' http://purl.obolibrary.org/obo/HP_0000107 Renal cyst 'Renal cyst' SubClassOf 'abnormality of the kidney' 'Renal cyst' SubClassOf 'abnormality of the kidney' http://www.orpha.net/ORDO/Orphanet_289157 Hypocalcemic vitamin D-dependent rickets 'Hypocalcemic vitamin D-dependent rickets' SubClassOf 'Hypocalcemic rickets' 'Hypocalcemic vitamin D-dependent rickets' SubClassOf 'Hypocalcemic rickets' 'Hypocalcemic vitamin D-dependent rickets' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024299 http://www.orpha.net/ORDO/Orphanet_352712 Facial dysmorphism - immunodeficiency - livedo - short stature 'Facial dysmorphism - immunodeficiency - livedo - short stature' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Facial dysmorphism - immunodeficiency - livedo - short stature' SubClassOf 'Genetic malformation syndrome with short stature' 'Facial dysmorphism - immunodeficiency - livedo - short stature' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018035 'Facial dysmorphism - immunodeficiency - livedo - short stature' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Facial dysmorphism - immunodeficiency - livedo - short stature' SubClassOf 'Genetic malformation syndrome with short stature' http://www.orpha.net/ORDO/Orphanet_79477 Griscelli disease type 2 'Griscelli disease type 2' SubClassOf 'Griscelli disease' 'Griscelli disease type 2' SubClassOf 'Immunodeficiency syndrome with hypopigmentation' 'Griscelli disease type 2' SubClassOf 'Genetic immune deficiency with skin involvement' 'Griscelli disease type 2' SubClassOf 'Constitutional neutropenia with extra-haematopoietic manifestations' 'Griscelli disease type 2' SubClassOf 'Griscelli disease' 'Griscelli disease type 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Griscelli disease type 2' SubClassOf 'Immunodeficiency syndrome with hypopigmentation' 'Griscelli disease type 2' SubClassOf 'Genetic immune deficiency with skin involvement' 'Griscelli disease type 2' SubClassOf 'Constitutional neutropenia with extra-haematopoietic manifestations' http://www.orpha.net/ORDO/Orphanet_79476 Griscelli disease type 1 'Griscelli disease type 1' SubClassOf 'Griscelli disease' 'Griscelli disease type 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015144 'Griscelli disease type 1' SubClassOf 'Griscelli disease' 'Griscelli disease type 1' SubClassOf 'Cerebral organic aciduria' http://www.orpha.net/ORDO/Orphanet_79478 Griscelli disease type 3 'Griscelli disease type 3' SubClassOf 'Griscelli disease' 'Griscelli disease type 3' SubClassOf 'Griscelli disease' http://www.orpha.net/ORDO/Orphanet_79473 Porphyria variegata 'Porphyria variegata' SubClassOf 'Acute hepatic porphyria' 'Porphyria variegata' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019142 'Porphyria variegata' SubClassOf 'Acute hepatic porphyria' http://www.orpha.net/ORDO/Orphanet_79474 Atypical Werner syndrome 'Atypical Werner syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015333 'Atypical Werner syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021106 'Atypical Werner syndrome' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://purl.obolibrary.org/obo/CHEBI_28119 2,3,7,8-tetrachlorodibenzodioxine '2,3,7,8-tetrachlorodibenzodioxine' SubClassOf 'has_role' some 'xenobiotic' http://www.orpha.net/ORDO/Orphanet_352718 Progressive retinal dystrophy due to retinol transport defect 'Progressive retinal dystrophy due to retinol transport defect' SubClassOf 'Retinal dystrophy' 'Progressive retinal dystrophy due to retinol transport defect' SubClassOf 'Disorder of other vitamins and cofactors metabolism and transport' 'Progressive retinal dystrophy due to retinol transport defect' SubClassOf 'Retinal dystrophy' 'Progressive retinal dystrophy due to retinol transport defect' SubClassOf 'Disorder of other vitamins and cofactors metabolism and transport' 'Progressive retinal dystrophy due to retinol transport defect' SubClassOf 'participates_in' some ('vitamin transport' and ('has component' some 'abnormal')) http://www.orpha.net/ORDO/Orphanet_352723 Attenuated Chédiak-Higashi syndrome 'Attenuated Chédiak-Higashi syndrome' SubClassOf 'Rare hereditary disease with peripheral neuropathy' 'Attenuated Chédiak-Higashi syndrome' SubClassOf 'Genetic neurodegenerative disease' 'Attenuated Chédiak-Higashi syndrome' SubClassOf 'Rare hereditary disease with peripheral neuropathy' 'Attenuated Chédiak-Higashi syndrome' SubClassOf 'Genetic neurodegenerative disease' http://purl.obolibrary.org/obo/CHEBI_80730 Coronatine 'Coronatine' SubClassOf 'chemical entity' 'Coronatine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_6541 losartan 'losartan' SubClassOf 'has_role' some 'drug role' http://purl.obolibrary.org/obo/NCBITaxon_4762 Oomycetes 'Oomycetes' SubClassOf 'Stramenopiles' 'Oomycetes' SubClassOf 'Stramenopiles' http://www.orpha.net/ORDO/Orphanet_352728 Disorder of melanin metabolism 'Disorder of melanin metabolism' SubClassOf 'Disorder of amino acid and other organic acid metabolism' 'Disorder of melanin metabolism' SubClassOf 'Disorder of amino acid and other organic acid metabolism' http://www.orpha.net/ORDO/Orphanet_352734 Minimal pigment oculocutaneous albinism type 1 'Minimal pigment oculocutaneous albinism type 1' SubClassOf 'Oculocutaneous albinism type 1' 'Minimal pigment oculocutaneous albinism type 1' SubClassOf 'Oculocutaneous albinism type 1' http://purl.obolibrary.org/obo/UO_0000005 temperature unit 'temperature unit' SubClassOf 'is_unit_of' some 'temperature' http://www.orpha.net/ORDO/Orphanet_352731 Oculocutaneous albinism type 1 'Oculocutaneous albinism type 1' SubClassOf 'Oculocutaneous albinism' 'Oculocutaneous albinism type 1' SubClassOf 'Oculocutaneous albinism' http://purl.obolibrary.org/obo/UBERON_0001673 central retinal vein 'central retinal vein' SubClassOf 'vein' 'central retinal vein' SubClassOf http://purl.obolibrary.org/obo/UBERON_0003496 'central retinal vein' SubClassOf http://purl.obolibrary.org/obo/UBERON_0009141 http://purl.obolibrary.org/obo/UBERON_0001675 trigeminal ganglion 'trigeminal ganglion' SubClassOf 'develops_from' some 'trigeminal neural crest' 'trigeminal ganglion' SubClassOf http://purl.obolibrary.org/obo/UBERON_0001800 'trigeminal ganglion' SubClassOf 'develops_from' some 'trigeminal placode' http://purl.obolibrary.org/obo/CHEBI_6550 loxtidine 'loxtidine' SubClassOf 'has_role' some 'drug role' http://purl.obolibrary.org/obo/CHEBI_17443 L-homocitrulline 'L-homocitrulline' SubClassOf 'amino acid' 'L-homocitrulline' SubClassOf 'amino acid' http://purl.obolibrary.org/obo/UBERON_0000358 blastocyst 'blastocyst' SubClassOf 'develops_from' some 'embryo' http://www.orpha.net/ORDO/Orphanet_280763 Severe intellectual disability and progressive spastic paraplegia 'Severe intellectual disability and progressive spastic paraplegia' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Severe intellectual disability and progressive spastic paraplegia' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Severe intellectual disability and progressive spastic paraplegia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 http://purl.obolibrary.org/obo/NCBITaxon_4751 Fungi 'Fungi' SubClassOf 'Opisthokonta' 'Fungi' SubClassOf 'Opisthokonta' http://www.orpha.net/ORDO/Orphanet_352737 Temperature-sensitive oculocutaneous albinism type 1 'Temperature-sensitive oculocutaneous albinism type 1' SubClassOf 'Oculocutaneous albinism type 1' 'Temperature-sensitive oculocutaneous albinism type 1' SubClassOf 'Oculocutaneous albinism type 1' http://www.orpha.net/ORDO/Orphanet_352745 Oculocutaneous albinism type 7 'Oculocutaneous albinism type 7' SubClassOf 'Oculocutaneous albinism' 'Oculocutaneous albinism type 7' SubClassOf 'Oculocutaneous albinism' http://www.orpha.net/ORDO/Orphanet_352740 Ocular albinism with congenital sensorineural deafness 'Ocular albinism with congenital sensorineural deafness' SubClassOf 'Ocular albinism' 'Ocular albinism with congenital sensorineural deafness' SubClassOf 'Developmental anomaly of metabolic origin' 'Ocular albinism with congenital sensorineural deafness' SubClassOf 'Waardenburg syndrome' 'Ocular albinism with congenital sensorineural deafness' SubClassOf 'Ocular albinism' http://purl.obolibrary.org/obo/UBERON_0001684 mandible 'mandible' SubClassOf http://purl.obolibrary.org/obo/UBERON_0002514 http://www.orpha.net/ORDO/Orphanet_91131 DK1-CDG 'DK1-CDG' SubClassOf 'Disorder of multiple glycosylation' 'DK1-CDG' SubClassOf 'Autosomal ichthyosis syndrome with other associated signs' 'DK1-CDG' SubClassOf 'Congenital disorder of glycosylation with skin involvement' 'DK1-CDG' SubClassOf 'Congenital disorder of glycosylation with dilated cardiomyopathy' 'DK1-CDG' SubClassOf 'congenital disorder of glycosylation type I' 'DK1-CDG' SubClassOf 'Disorder of multiple glycosylation' 'DK1-CDG' SubClassOf 'Autosomal ichthyosis syndrome with other associated signs' 'DK1-CDG' SubClassOf 'Congenital disorder of glycosylation with skin involvement' 'DK1-CDG' SubClassOf 'Congenital disorder of glycosylation with dilated cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_91132 Ichthyosis-hypotrichosis syndrome 'Ichthyosis-hypotrichosis syndrome' SubClassOf 'Autosomal ichthyosis syndrome with prominent hair abnormalities' 'Ichthyosis-hypotrichosis syndrome' SubClassOf 'Autosomal ichthyosis syndrome with prominent hair abnormalities' 'Ichthyosis-hypotrichosis syndrome' SubClassOf 'Autosomal recessive congenital ichthyosis' 'Ichthyosis-hypotrichosis syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021034 http://purl.obolibrary.org/obo/CHEBI_7896 hexadecanoate 'hexadecanoate' SubClassOf 'lipid' 'hexadecanoate' SubClassOf 'lipid' http://www.orpha.net/ORDO/Orphanet_91130 Cardiomyopathy - hypotonia - lactic acidosis 'Cardiomyopathy - hypotonia - lactic acidosis' SubClassOf 'Syndrome associated with hypertrophic cardiomyopathy' 'Cardiomyopathy - hypotonia - lactic acidosis' SubClassOf 'Mitochondrial substrate carrier disorder' 'Cardiomyopathy - hypotonia - lactic acidosis' SubClassOf 'autosomal recessive disease' 'Cardiomyopathy - hypotonia - lactic acidosis' SubClassOf 'Syndrome associated with hypertrophic cardiomyopathy' 'Cardiomyopathy - hypotonia - lactic acidosis' SubClassOf 'Mitochondrial substrate carrier disorder' 'Cardiomyopathy - hypotonia - lactic acidosis' SubClassOf 'Mitochondrial disease with hypertrophic cardiomyopathy' 'Cardiomyopathy - hypotonia - lactic acidosis' SubClassOf 'lactic acidosis' http://www.orpha.net/ORDO/Orphanet_289103 Hypocalcemic rickets 'Hypocalcemic rickets' SubClassOf 'Disorders of vitamin D metabolism' 'Hypocalcemic rickets' SubClassOf 'rickets' 'Hypocalcemic rickets' SubClassOf 'Disorders of vitamin D metabolism' http://purl.obolibrary.org/obo/UBERON_0000369 corpus striatum 'corpus striatum' SubClassOf 'part_of' some 'basal ganglion' http://www.orpha.net/ORDO/Orphanet_91135 Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency 'Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency' SubClassOf 'Genetic dermis elastic tissue disorder' 'Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency' SubClassOf 'Genetic dermis elastic tissue disorder' http://www.orpha.net/ORDO/Orphanet_363400 Severe neurodegenerative syndrome with lipodystrophy 'Severe neurodegenerative syndrome with lipodystrophy' SubClassOf 'Genetic neurodegenerative disease' 'Severe neurodegenerative syndrome with lipodystrophy' SubClassOf 'Genetic lipodystrophy' 'Severe neurodegenerative syndrome with lipodystrophy' SubClassOf 'Genetic neurodegenerative disease' 'Severe neurodegenerative syndrome with lipodystrophy' SubClassOf 'Genetic lipodystrophy' http://www.orpha.net/ORDO/Orphanet_91133 Osteopenia - myopia - hearing loss - intellectual disability - facial dysmorphism 'Osteopenia - myopia - hearing loss - intellectual disability - facial dysmorphism' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Osteopenia - myopia - hearing loss - intellectual disability - facial dysmorphism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Osteopenia - myopia - hearing loss - intellectual disability - facial dysmorphism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Osteopenia - myopia - hearing loss - intellectual disability - facial dysmorphism' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/UBERON_0011004 pharyngeal arch cartilage 'pharyngeal arch cartilage' SubClassOf 'part_of' some 'skeletal system' 'pharyngeal arch cartilage' SubClassOf 'develops_from' some 'skeleton' 'pharyngeal arch cartilage' SubClassOf 'develops_from' some 'pharyngeal arch' http://purl.obolibrary.org/obo/UBERON_0000362 renal medulla 'renal medulla' SubClassOf 'part_of' some 'kidney' http://purl.obolibrary.org/obo/UBERON_0001691 external ear 'external ear' SubClassOf 'part_of' some 'head' 'external ear' SubClassOf 'part_of' some 'sensory system' 'external ear' DisjointWith 'atrial appendage' http://purl.obolibrary.org/obo/UBERON_0000365 urothelium 'urothelium' SubClassOf 'animal component' 'urothelium' SubClassOf http://purl.obolibrary.org/obo/UBERON_0000486 'urothelium' SubClassOf http://purl.obolibrary.org/obo/UBERON_0005911 http://www.orpha.net/ORDO/Orphanet_469 Hereditary fructose intolerance 'Hereditary fructose intolerance' SubClassOf 'Disorder of fructose metabolism' 'Hereditary fructose intolerance' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'Hereditary fructose intolerance' SubClassOf 'Disorder of carbohydrate absorption and transport' 'Hereditary fructose intolerance' SubClassOf 'Congenital intestinal transport defect' 'Hereditary fructose intolerance' SubClassOf 'Metabolic disease with intestinal involvement' 'Hereditary fructose intolerance' SubClassOf 'Disorder of fructose metabolism' 'Hereditary fructose intolerance' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'Hereditary fructose intolerance' SubClassOf 'Disorder of carbohydrate absorption and transport' 'Hereditary fructose intolerance' SubClassOf 'Congenital intestinal transport defect' http://www.orpha.net/ORDO/Orphanet_467 Non-acquired combined pituitary hormone deficiency 'Non-acquired combined pituitary hormone deficiency' SubClassOf 'Non-acquired pituitary hormone deficiency' 'Non-acquired combined pituitary hormone deficiency' SubClassOf 'Non-acquired pituitary hormone deficiency' http://www.orpha.net/ORDO/Orphanet_466 Fatal familial insomnia 'Fatal familial insomnia' SubClassOf 'Genetic dementia' 'Fatal familial insomnia' SubClassOf 'insomnia' 'Fatal familial insomnia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017234 http://www.orpha.net/ORDO/Orphanet_314485 Young adult-onset distal hereditary motor neuropathy 'Young adult-onset distal hereditary motor neuropathy' SubClassOf 'Autosomal recessive distal hereditary motor neuropathy' 'Young adult-onset distal hereditary motor neuropathy' SubClassOf 'Autosomal recessive distal hereditary motor neuropathy' 'Young adult-onset distal hereditary motor neuropathy' SubClassOf 'spinal muscular atrophy' http://www.orpha.net/ORDO/Orphanet_465 Congenital plasminogen activator inhibitor type 1 deficiency 'Congenital plasminogen activator inhibitor type 1 deficiency' SubClassOf 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' 'Congenital plasminogen activator inhibitor type 1 deficiency' SubClassOf 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' http://www.orpha.net/ORDO/Orphanet_464 Incontinentia pigmenti 'Incontinentia pigmenti' SubClassOf 'Congenital vitreoretinal dysplasia' 'Incontinentia pigmenti' SubClassOf 'X-linked syndromic intellectual disability' 'Incontinentia pigmenti' SubClassOf 'Ectodermal dysplasia syndrome' 'Incontinentia pigmenti' SubClassOf 'Dentocutaneous disease with cataract' 'Incontinentia pigmenti' SubClassOf 'Neurocutaneous syndrome with epilepsy' 'Incontinentia pigmenti' SubClassOf 'Pigmentation disorder with eye involvement, excluding albinism' 'Incontinentia pigmenti' SubClassOf 'Congenital vitreoretinal dysplasia' 'Incontinentia pigmenti' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020014 'Incontinentia pigmenti' SubClassOf 'brain neoplasm' 'Incontinentia pigmenti' SubClassOf 'Monogenic disease with epilepsy' 'Incontinentia pigmenti' SubClassOf 'X-linked syndromic intellectual disability' 'Incontinentia pigmenti' SubClassOf 'Dentocutaneous disease with cataract' 'Incontinentia pigmenti' SubClassOf 'Ectodermal dysplasia syndrome' 'Incontinentia pigmenti' SubClassOf 'Neurocutaneous syndrome with epilepsy' 'Incontinentia pigmenti' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Incontinentia pigmenti' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'Incontinentia pigmenti' SubClassOf 'Pigmentation disorder with eye involvement, excluding albinism' 'Incontinentia pigmenti' SubClassOf 'Genetic pigmentation anomaly of the skin' http://www.ebi.ac.uk/efo/EFO_1000983 inferior myocardial infarction 'inferior myocardial infarction' SubClassOf 'myocardial infarction' 'inferior myocardial infarction' SubClassOf 'myocardial infarction' http://www.ebi.ac.uk/efo/EFO_1000984 inflammatory breast carcinoma 'inflammatory breast carcinoma' SubClassOf 'breast adenocarcinoma' 'inflammatory breast carcinoma' SubClassOf 'Invasive Breast Carcinoma' 'inflammatory breast carcinoma' SubClassOf 'breast adenocarcinoma' 'inflammatory breast carcinoma' SubClassOf 'participates_in' some 'inflammatory response' http://www.orpha.net/ORDO/Orphanet_461 Recessive X-linked ichthyosis 'Recessive X-linked ichthyosis' SubClassOf 'Ichthyosis associated with ocular features' 'Recessive X-linked ichthyosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044976 'Recessive X-linked ichthyosis' SubClassOf 'Inherited ichthyosis' 'Recessive X-linked ichthyosis' SubClassOf 'Sterol metabolism disorder' 'Recessive X-linked ichthyosis' SubClassOf 'X-linked ichthyosis syndrome' 'Recessive X-linked ichthyosis' SubClassOf 'Rare genetic neurological disorder' 'Recessive X-linked ichthyosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020605 'Recessive X-linked ichthyosis' SubClassOf 'Syndromic ichthyosis associated with ocular features' 'Recessive X-linked ichthyosis' SubClassOf 'Rare syndromic dyslipidemia' http://www.ebi.ac.uk/efo/EFO_1000981 ileal neoplasm 'ileal neoplasm' SubClassOf 'neoplasm' 'ileal neoplasm' SubClassOf 'digestive system disease' 'ileal neoplasm' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004251 'ileal neoplasm' SubClassOf 'has_disease_location' some ('ileum' or ('part_of' some 'ileum')) 'ileal neoplasm' SubClassOf 'neoplasm' http://www.ebi.ac.uk/efo/EFO_1000982 inappropriate ADH syndrome 'inappropriate ADH syndrome' SubClassOf 'endocrine system disease' 'inappropriate ADH syndrome' SubClassOf 'central nervous system disease' 'inappropriate ADH syndrome' SubClassOf 'has_disease_location' some ('pituitary gland' or ('part_of' some 'pituitary gland')) 'inappropriate ADH syndrome' SubClassOf 'endocrine system disease' 'inappropriate ADH syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0045072 'inappropriate ADH syndrome' SubClassOf 'pituitary gland disease' http://www.ebi.ac.uk/efo/EFO_1000980 ideomotor apraxia 'ideomotor apraxia' SubClassOf 'nervous system disease' 'ideomotor apraxia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000665 'ideomotor apraxia' SubClassOf 'nervous system disease' http://www.ebi.ac.uk/efo/EFO_1000989 intestinal volvulus 'intestinal volvulus' SubClassOf 'gastrointestinal obstruction' 'intestinal volvulus' SubClassOf 'has_disease_location' some ('intestine' or ('part_of' some 'intestine')) 'intestinal volvulus' SubClassOf 'gastrointestinal obstruction' http://www.ebi.ac.uk/efo/EFO_1000987 intestinal perforation 'intestinal perforation' SubClassOf 'intestinal disease' 'intestinal perforation' SubClassOf 'intestinal disease' 'intestinal perforation' SubClassOf 'has_disease_location' some ('intestine' or ('part_of' some 'intestine')) http://www.ebi.ac.uk/efo/EFO_1000988 intestinal pseudo-obstruction 'intestinal pseudo-obstruction' SubClassOf 'gastrointestinal obstruction' 'intestinal pseudo-obstruction' SubClassOf 'gastrointestinal obstruction' http://www.ebi.ac.uk/efo/EFO_1000985 intermediate coronary syndrome 'intermediate coronary syndrome' SubClassOf 'coronary artery disease' 'intermediate coronary syndrome' SubClassOf 'coronary artery disease' http://www.ebi.ac.uk/efo/EFO_1000986 intermediate uveitis 'intermediate uveitis' SubClassOf 'uveitis' 'intermediate uveitis' SubClassOf 'uveitis' http://www.orpha.net/ORDO/Orphanet_398088 Hereditary cryohydrocytosis with normal stomatin 'Hereditary cryohydrocytosis with normal stomatin' SubClassOf 'Hereditary stomatocytosis' 'Hereditary cryohydrocytosis with normal stomatin' SubClassOf 'Familial pseudohyperkalemia' http://www.orpha.net/ORDO/Orphanet_478 Kallmann syndrome 'Kallmann syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Kallmann syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018555 http://www.orpha.net/ORDO/Orphanet_477 KID syndrome 'KID syndrome' SubClassOf 'Autosomal ichthyosis syndrome with other associated signs' 'KID syndrome' SubClassOf 'Syndromic genetic deafness' 'KID syndrome' SubClassOf 'Disease with diffuse palmoplantar keratoderma as a major feature' 'KID syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'KID syndrome' SubClassOf 'Syndromic ichthyosis associated with ocular features' 'KID syndrome' SubClassOf 'Autosomal ichthyosis syndrome with other associated signs' 'KID syndrome' SubClassOf 'Syndromic genetic deafness' 'KID syndrome' SubClassOf 'Disease with diffuse palmoplantar keratoderma as a major feature' 'KID syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'KID syndrome' SubClassOf 'Syndromic ichthyosis associated with ocular features' http://www.orpha.net/ORDO/Orphanet_475 Joubert syndrome 'Joubert syndrome' SubClassOf 'Genetic cerebellar malformation' 'Joubert syndrome' SubClassOf 'ciliopathy' 'Joubert syndrome' SubClassOf 'Joubert syndrome and related disorders' 'Joubert syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020130 'Joubert syndrome' SubClassOf 'ciliopathy' 'Joubert syndrome' SubClassOf 'has_disease_location' some 'cilium' 'Joubert syndrome' SubClassOf 'Joubert syndrome and related disorders' http://www.orpha.net/ORDO/Orphanet_474 Jeune syndrome 'Jeune syndrome' SubClassOf 'ciliopathy' 'Jeune syndrome' SubClassOf 'Short rib-polydactyly syndrome' 'Jeune syndrome' SubClassOf 'ciliopathy' 'Jeune syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019744 'Jeune syndrome' SubClassOf 'has_disease_location' some 'cilium' 'Jeune syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 'Jeune syndrome' SubClassOf 'Genetic renal tubular disease' 'Jeune syndrome' SubClassOf 'Short rib-polydactyly syndrome' http://www.ebi.ac.uk/efo/EFO_1000994 intracranial vasospasm 'intracranial vasospasm' SubClassOf 'cerebrovascular disorder' 'intracranial vasospasm' SubClassOf 'cerebrovascular disorder' http://www.ebi.ac.uk/efo/EFO_1000995 intradermal nevus 'intradermal nevus' SubClassOf 'nevus' 'intradermal nevus' SubClassOf 'nevus' 'intradermal nevus' SubClassOf 'melanocytic nevus' http://www.ebi.ac.uk/efo/EFO_1000992 intracranial hypertension 'intracranial hypertension' SubClassOf 'central nervous system disease' 'intracranial hypertension' SubClassOf 'hypertension' 'intracranial hypertension' SubClassOf 'has_disease_location' some ('brain' or ('part_of' some 'brain')) 'intracranial hypertension' SubClassOf 'hypertension' 'intracranial hypertension' SubClassOf 'brain disease' 'intracranial hypertension' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043218 http://www.ebi.ac.uk/efo/EFO_1000993 intracranial hypotension 'intracranial hypotension' SubClassOf 'brain disease' 'intracranial hypotension' SubClassOf 'brain disease' http://www.orpha.net/ORDO/Orphanet_470 Lysinuric protein intolerance 'Lysinuric protein intolerance' SubClassOf 'Disorder of amino acid absorption and transport' 'Lysinuric protein intolerance' SubClassOf 'Disorder of amino acid absorption and transport' 'Lysinuric protein intolerance' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004736 http://www.ebi.ac.uk/efo/EFO_1000990 intracranial arterial disease 'intracranial arterial disease' SubClassOf 'cerebrovascular disorder' 'intracranial arterial disease' SubClassOf 'cerebrovascular disorder' http://purl.obolibrary.org/obo/UO_0000047 area unit 'area unit' SubClassOf 'is_unit_of' some 'area' http://www.ebi.ac.uk/efo/EFO_1000991 intracranial embolism 'intracranial embolism' SubClassOf 'cerebrovascular disorder' 'intracranial embolism' SubClassOf 'cerebrovascular disorder' http://www.orpha.net/ORDO/Orphanet_217467 Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency 'Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency' SubClassOf 'Rare hereditary thrombophilia' 'Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency' SubClassOf 'thrombophilia' 'Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency' SubClassOf 'Rare hereditary thrombophilia' http://purl.obolibrary.org/obo/HP_0000179 Thick lower lip vermilion 'Thick lower lip vermilion' SubClassOf 'abnormality of the mouth' 'Thick lower lip vermilion' SubClassOf 'abnormality of the mouth' http://www.ebi.ac.uk/efo/EFO_1000998 jejunal cancer 'jejunal cancer' SubClassOf 'small intestine carcinoma' 'jejunal cancer' SubClassOf 'small intestine carcinoma' 'jejunal cancer' SubClassOf 'has_disease_location' some ('jejunum' or ('part_of' some 'jejunum')) 'jejunal cancer' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000956 'jejunal cancer' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002564 http://www.ebi.ac.uk/efo/EFO_1000999 joint disease 'joint disease' SubClassOf 'skeletal system disease' 'joint disease' SubClassOf 'skeletal system disease' 'joint disease' SubClassOf 'has_disease_location' some ('skeletal joint' or ('part_of' some 'skeletal joint')) http://www.ebi.ac.uk/efo/EFO_1000996 iris cancer 'iris cancer' SubClassOf 'head and neck neoplasia' 'iris cancer' SubClassOf 'eye neoplasm' 'iris cancer' SubClassOf 'has_disease_location' some ('iris' or ('part_of' some 'iris')) 'iris cancer' SubClassOf 'eye neoplasm' http://www.ebi.ac.uk/efo/EFO_1000997 iritis 'iritis' SubClassOf 'eye disease' 'iritis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002289 'iritis' SubClassOf 'eye disease' 'iritis' SubClassOf 'participates_in' some 'inflammatory response' 'iritis' SubClassOf 'uveitis' http://purl.obolibrary.org/obo/CHEBI_89118 5-hydroxymethyl-2-furoic acid '5-hydroxymethyl-2-furoic acid' SubClassOf 'acid' '5-hydroxymethyl-2-furoic acid' SubClassOf 'acid' http://www.orpha.net/ORDO/Orphanet_488 Urachal cyst 'Urachal cyst' SubClassOf 'Genetic non-syndromic renal or urinary tract malformation' 'Urachal cyst' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018565 http://www.orpha.net/ORDO/Orphanet_487 Krabbe disease 'Krabbe disease' SubClassOf 'Neurometabolic disease' 'Krabbe disease' SubClassOf 'Sphingolipidosis' 'Krabbe disease' SubClassOf 'Unclassified primitive or secondary maculopathy' 'Krabbe disease' SubClassOf 'Rare hereditary metabolic disease with peripheral neuropathy' 'Krabbe disease' SubClassOf 'Leukodystrophy' 'Krabbe disease' SubClassOf 'Neurometabolic disease' 'Krabbe disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018299 'Krabbe disease' SubClassOf 'Unclassified primitive or secondary maculopathy' 'Krabbe disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044976 'Krabbe disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004884 'Krabbe disease' SubClassOf 'Rare hereditary metabolic disease with peripheral neuropathy' 'Krabbe disease' SubClassOf 'Leukodystrophy' http://www.orpha.net/ORDO/Orphanet_399391 Osteochondrosis of genetic origin 'Osteochondrosis of genetic origin' SubClassOf 'Osteonecrosis of genetic origin' 'Osteochondrosis of genetic origin' SubClassOf 'Osteonecrosis of genetic origin' 'Osteochondrosis of genetic origin' EquivalentTo 'Osteochondrosis' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) 'Osteochondrosis of genetic origin' SubClassOf 'Osteochondrosis' http://www.orpha.net/ORDO/Orphanet_486 Autosomal dominant severe congenital neutropenia 'Autosomal dominant severe congenital neutropenia' SubClassOf 'Severe congenital neutropenia' 'Autosomal dominant severe congenital neutropenia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 'Autosomal dominant severe congenital neutropenia' SubClassOf 'Severe congenital neutropenia' http://www.orpha.net/ORDO/Orphanet_485 Kniest dysplasia 'Kniest dysplasia' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Kniest dysplasia' SubClassOf 'Type 2 collagen-related bone disorder' 'Kniest dysplasia' SubClassOf 'Pierre Robin syndrome associated with collagen disease' 'Kniest dysplasia' SubClassOf 'osteochondrodysplasia' 'Kniest dysplasia' SubClassOf 'Type 2 collagen-related bone disorder' 'Kniest dysplasia' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Kniest dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0022800 'Kniest dysplasia' SubClassOf 'Pierre Robin syndrome associated with collagen disease' http://www.orpha.net/ORDO/Orphanet_183592 Genetic renal tubular disease 'Genetic renal tubular disease' SubClassOf 'renal tubule disease' 'Genetic renal tubular disease' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Genetic renal tubular disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003847 http://www.orpha.net/ORDO/Orphanet_483 Congenital high-molecular-weight kininogen deficiency 'Congenital high-molecular-weight kininogen deficiency' SubClassOf 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' 'Congenital high-molecular-weight kininogen deficiency' SubClassOf 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' http://www.orpha.net/ORDO/Orphanet_481 Kennedy disease 'Kennedy disease' SubClassOf 'Bulbospinal muscular atrophy of adult' 'Kennedy disease' SubClassOf 'Genetic neurodegenerative disease' 'Kennedy disease' SubClassOf 'Rare male infertility due to testicular endocrine disorder' 'Kennedy disease' SubClassOf 'Bulbospinal muscular atrophy of adult' 'Kennedy disease' SubClassOf 'Rare male infertility due to testicular endocrine disorder' http://www.ebi.ac.uk/efo/EFO_0004911 familial hypercholesterolemia 'familial hypercholesterolemia' SubClassOf 'genetic disorder' 'familial hypercholesterolemia' SubClassOf 'metabolic disease' 'familial hypercholesterolemia' SubClassOf ('has_participant' some 'cholesterol') and ('participates_in' some ('cholesterol homeostasis' and ('has component' some 'abnormal'))) 'familial hypercholesterolemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001336 'familial hypercholesterolemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0037748 http://www.orpha.net/ORDO/Orphanet_183595 Genetic renal tumor 'Genetic renal tumor' SubClassOf 'urogenital neoplasm' 'Genetic renal tumor' SubClassOf 'has_disease_location' some ('renal system' or ('part_of' some 'renal system')) 'Genetic renal tumor' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Genetic renal tumor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003847 'Genetic renal tumor' SubClassOf 'kidney neoplasm' http://www.orpha.net/ORDO/Orphanet_480 Kearns-Sayre syndrome 'Kearns-Sayre syndrome' SubClassOf 'Mitochondrial disease with peripheral neuropathy' 'Kearns-Sayre syndrome' SubClassOf 'Syndromic retinitis pigmentosa' 'Kearns-Sayre syndrome' SubClassOf 'Mitochondrial disease with dilated cardiomyopathy' 'Kearns-Sayre syndrome' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA' 'Kearns-Sayre syndrome' SubClassOf 'Mitochondrial myopathy' 'Kearns-Sayre syndrome' SubClassOf 'Syndrome with hypoparathyroidism' 'Kearns-Sayre syndrome' SubClassOf 'Mitochondrial disease with eye involvement' 'Kearns-Sayre syndrome' SubClassOf 'Syndromic genetic deafness' 'Kearns-Sayre syndrome' SubClassOf 'Syndrome with a symptomatic strabismus' 'Kearns-Sayre syndrome' SubClassOf 'Neurometabolic disease' 'Kearns-Sayre syndrome' SubClassOf 'Mitochondrial disease with peripheral neuropathy' 'Kearns-Sayre syndrome' SubClassOf 'Syndromic retinitis pigmentosa' 'Kearns-Sayre syndrome' SubClassOf 'Mitochondrial disease with dilated cardiomyopathy' 'Kearns-Sayre syndrome' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA' 'Kearns-Sayre syndrome' SubClassOf 'Mitochondrial disease with eye involvement' 'Kearns-Sayre syndrome' SubClassOf 'Syndromic genetic deafness' 'Kearns-Sayre syndrome' SubClassOf 'Syndrome with hypoparathyroidism' 'Kearns-Sayre syndrome' SubClassOf 'Syndrome with a symptomatic strabismus' 'Kearns-Sayre syndrome' SubClassOf 'Neurometabolic disease' 'Kearns-Sayre syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016402 'Kearns-Sayre syndrome' SubClassOf 'progressive external ophthalmoplegia' 'Kearns-Sayre syndrome' SubClassOf 'Myopathy with eye involvement' http://www.ebi.ac.uk/efo/EFO_0004912 serum IgA measurement 'serum IgA measurement' SubClassOf ('is_about' some 'multiple myeloma') or ('is_about' some 'Primary systemic amyloidosis') 'serum IgA measurement' SubClassOf 'is_about' some 'antibody' http://www.ebi.ac.uk/efo/EFO_0004910 CYP3A4 activity 'CYP3A4 activity' SubClassOf ('is_about' some 'enzyme') and ('is_about' some 'liver') http://www.orpha.net/ORDO/Orphanet_183598 Rare genetic palpebral, lacrimal system and conjunctival disease 'Rare genetic palpebral, lacrimal system and conjunctival disease' SubClassOf 'Rare genetic neurological disorder' 'Rare genetic palpebral, lacrimal system and conjunctival disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020150 'Rare genetic palpebral, lacrimal system and conjunctival disease' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0020150 and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) http://www.ebi.ac.uk/efo/EFO_0004915 vaspin measurement 'vaspin measurement' SubClassOf ('is_about' some 'obesity') or ('is_about' some 'type II diabetes mellitus') or ('is_about' some 'insulin resistance') http://www.orpha.net/ORDO/Orphanet_411602 Hereditary late-onset Parkinson disease 'Hereditary late-onset Parkinson disease' SubClassOf 'Parkinson's disease' 'Hereditary late-onset Parkinson disease' SubClassOf 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' 'Hereditary late-onset Parkinson disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015914 'Hereditary late-onset Parkinson disease' SubClassOf 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' 'Hereditary late-onset Parkinson disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0008199 http://www.orpha.net/ORDO/Orphanet_183589 Genetic thrombotic microangiopathy 'Genetic thrombotic microangiopathy' SubClassOf 'kidney disease' 'Genetic thrombotic microangiopathy' SubClassOf 'blood coagulation disease' 'Genetic thrombotic microangiopathy' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://www.ebi.ac.uk/efo/EFO_0004913 lentiform nucleus measurement 'lentiform nucleus measurement' SubClassOf 'is_about' some 'brain' 'lentiform nucleus measurement' SubClassOf 'is_about' some 'volume' 'lentiform nucleus measurement' SubClassOf 'is_about' some 'mental or behavioural disorder' 'lentiform nucleus measurement' SubClassOf 'is_about' some 'central nervous system' http://www.orpha.net/ORDO/Orphanet_325124 Testicular agenesis 'Testicular agenesis' SubClassOf '46,XY disorder of gonadal development' 'Testicular agenesis' SubClassOf 'Male infertility due to gonadal dysgenesis' 'Testicular agenesis' SubClassOf '46,XY disorder of gonadal development' 'Testicular agenesis' SubClassOf 'Male infertility due to gonadal dysgenesis' http://www.orpha.net/ORDO/Orphanet_398069 Prader-Willi syndrome due to point mutation 'Prader-Willi syndrome due to point mutation' SubClassOf 'Prader-Willi syndrome' 'Prader-Willi syndrome due to point mutation' SubClassOf 'Prader-Willi syndrome' http://www.ebi.ac.uk/efo/EFO_0004914 facial neural processing 'facial neural processing' SubClassOf 'is_about' some 'central nervous system' http://www.orpha.net/ORDO/Orphanet_228140 Idiopathic ventricular fibrillation, not Brugada type 'Idiopathic ventricular fibrillation, not Brugada type' SubClassOf 'Genetic cardiac rhythm disease' 'Idiopathic ventricular fibrillation, not Brugada type' SubClassOf 'Genetic cardiac rhythm disease' 'Idiopathic ventricular fibrillation, not Brugada type' SubClassOf 'ventricular fibrillation' http://purl.obolibrary.org/obo/PO_0025121 pollen sperm cell 'pollen sperm cell' SubClassOf 'pollen' 'pollen sperm cell' SubClassOf 'pollen' http://www.orpha.net/ORDO/Orphanet_498 Keratosis pilaris atrophicans 'Keratosis pilaris atrophicans' SubClassOf 'Other genetic epidermal disease' 'Keratosis pilaris atrophicans' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019274 'Keratosis pilaris atrophicans' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021036 'Keratosis pilaris atrophicans' SubClassOf 'Other genetic epidermal disease' http://purl.obolibrary.org/obo/UO_0000064 micromolar 'micromolar' EquivalentTo 'micromole per liter' http://www.orpha.net/ORDO/Orphanet_495 Transgrediens et progrediens palmoplantar keratoderma 'Transgrediens et progrediens palmoplantar keratoderma' SubClassOf 'Autosomal dominant isolated diffuse palmoplantar keratoderma' 'Transgrediens et progrediens palmoplantar keratoderma' SubClassOf 'Erythrokeratodermia variabilis' http://www.orpha.net/ORDO/Orphanet_494 Keratoderma hereditarium mutilans 'Keratoderma hereditarium mutilans' SubClassOf 'Syndromic genetic deafness' 'Keratoderma hereditarium mutilans' SubClassOf 'Autosomal dominant diffuse mutilating palmoplantar keratoderma' 'Keratoderma hereditarium mutilans' SubClassOf 'Syndromic genetic deafness' 'Keratoderma hereditarium mutilans' SubClassOf 'Autosomal dominant diffuse mutilating palmoplantar keratoderma' http://www.orpha.net/ORDO/Orphanet_493 Familial keratoacanthoma 'Familial keratoacanthoma' SubClassOf 'Genetic skin tumor' 'Familial keratoacanthoma' SubClassOf 'disease has feature' some http://purl.obolibrary.org/obo/MONDO_0020173 'Familial keratoacanthoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002527 'Familial keratoacanthoma' SubClassOf 'Genetic skin tumor' 'Familial keratoacanthoma' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0002527 and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) 'Familial keratoacanthoma' SubClassOf 'head and neck neoplasia' http://www.ebi.ac.uk/efo/EFO_0004900 obsolete_Yoruba 'obsolete_Yoruba' SubClassOf 'obsolete class' 'obsolete_Yoruba' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004901 obsolete_Northern and Western European 'obsolete_Northern and Western European' SubClassOf 'obsolete class' 'obsolete_Northern and Western European' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004904 obsolete_hereditary genetic disorder 'obsolete_hereditary genetic disorder' SubClassOf 'obsolete class' 'obsolete_hereditary genetic disorder' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004905 induced pluripotent stem cell 'induced pluripotent stem cell' SubClassOf 'participates_in' some 'experimental process' http://www.ebi.ac.uk/efo/EFO_0004902 European HapMap cell line 'European HapMap cell line' SubClassOf 'is_input_of' some 'HapMap haplotype mapping' 'European HapMap cell line' EquivalentTo ('is_input_of' some 'HapMap haplotype mapping') and ('derives_from' some 'European') http://www.ebi.ac.uk/efo/EFO_0004908 testosterone measurement 'testosterone measurement' SubClassOf 'is_about' some 'sex hormone' 'testosterone measurement' SubClassOf 'is_about' some 'testosterone' 'testosterone measurement' SubClassOf 'is_about' some 'puberty' 'testosterone measurement' SubClassOf ('is_about' some 'infertility') or ('is_about' some 'adrenal gland neoplasm') or ('is_about' some 'ovarian disease') http://www.ebi.ac.uk/efo/EFO_0004909 dihydrotestosterone measurement 'dihydrotestosterone measurement' SubClassOf 'is_about' some 'hormone' http://www.ebi.ac.uk/efo/EFO_0004906 lymph node metastatic carcinoma 'lymph node metastatic carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001082 'lymph node metastatic carcinoma' SubClassOf 'has_disease_location' some 'lymph node' http://www.orpha.net/ORDO/Orphanet_398073 Prader-Willi-like syndrome 'Prader-Willi-like syndrome' SubClassOf 'Rare disorder with hypogonadotropic hypogonadism' 'Prader-Willi-like syndrome' SubClassOf 'Syndromic obesity' 'Prader-Willi-like syndrome' SubClassOf 'Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism' 'Prader-Willi-like syndrome' SubClassOf 'Rare disorder with hypogonadotropic hypogonadism' 'Prader-Willi-like syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007 'Prader-Willi-like syndrome' SubClassOf 'Syndromic obesity' 'Prader-Willi-like syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020016 'Prader-Willi-like syndrome' SubClassOf 'Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism' http://www.orpha.net/ORDO/Orphanet_398079 Prader-Willi-like syndrome due to point mutation 'Prader-Willi-like syndrome due to point mutation' SubClassOf 'Prader-Willi-like syndrome' 'Prader-Willi-like syndrome due to point mutation' SubClassOf 'Prader-Willi-like syndrome' http://www.orpha.net/ORDO/Orphanet_325118 46,XY disorder of gonadal development '46,XY disorder of gonadal development' SubClassOf 'Genetic 46,XY disorder of sex development' '46,XY disorder of gonadal development' SubClassOf 'Genetic 46,XY disorder of sex development' http://www.orpha.net/ORDO/Orphanet_228169 Autosomal dominant striatal neurodegeneration 'Autosomal dominant striatal neurodegeneration' SubClassOf 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' 'Autosomal dominant striatal neurodegeneration' SubClassOf 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' 'Autosomal dominant striatal neurodegeneration' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000211 'Autosomal dominant striatal neurodegeneration' SubClassOf 'Miscellaneous movement disorder due to genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_183570 Genetic malformation syndrome with short stature 'Genetic malformation syndrome with short stature' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019755 http://purl.obolibrary.org/obo/CLO_0030311 GM15036 'GM15036' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM15036' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0003602 obsolete_lateral wall spinal cord 'obsolete_lateral wall spinal cord' SubClassOf 'obsolete class' 'obsolete_lateral wall spinal cord' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_183573 Genetic overgrowth/obesity syndrome 'Genetic overgrowth/obesity syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019755 http://www.ebi.ac.uk/efo/EFO_0003603 obsolete_mesenchyme derived from head mesoderm 'obsolete_mesenchyme derived from head mesoderm' SubClassOf 'obsolete class' 'obsolete_mesenchyme derived from head mesoderm' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003600 obsolete_slow muscle cell somite 7 'obsolete_slow muscle cell somite 7' SubClassOf 'obsolete class' 'obsolete_slow muscle cell somite 7' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003601 obsolete_somite 13 'obsolete_somite 13' SubClassOf 'obsolete class' 'obsolete_somite 13' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_183576 Genetic branchial arch or oral-acral syndrome 'Genetic branchial arch or oral-acral syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019755 http://www.ebi.ac.uk/efo/EFO_0003606 obsolete_occipital lateral line neuromast 'obsolete_occipital lateral line neuromast' SubClassOf 'obsolete class' 'obsolete_occipital lateral line neuromast' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/CLO_0030305 GM15029 'GM15029' SubClassOf 'cultured cell' 'GM15029' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003607 obsolete_supraorbital lateral line neuromast 'obsolete_supraorbital lateral line neuromast' SubClassOf 'obsolete class' 'obsolete_supraorbital lateral line neuromast' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003604 obsolete_mesenchyme pectoral fin 'obsolete_mesenchyme pectoral fin' SubClassOf 'obsolete class' 'obsolete_mesenchyme pectoral fin' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003605 obsolete_trunk neural crest 'obsolete_trunk neural crest' SubClassOf 'obsolete class' 'obsolete_trunk neural crest' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/CLO_0030309 GM15038 'GM15038' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM15038' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0003608 obsolete_rhombomere 1 'obsolete_rhombomere 1' SubClassOf 'obsolete class' 'obsolete_rhombomere 1' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003609 obsolete_rhombomere 4 'obsolete_rhombomere 4' SubClassOf 'obsolete class' 'obsolete_rhombomere 4' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_325109 Syndrome with 46,XX disorder of sex development 'Syndrome with 46,XX disorder of sex development' SubClassOf 'Genetic 46,XX disorder of sex development' 'Syndrome with 46,XX disorder of sex development' SubClassOf 'Genetic 46,XX disorder of sex development' http://purl.obolibrary.org/obo/HP_0012115 hepatitis 'hepatitis' EquivalentTo 'has part' some ('increased rate' and ('inheres_in' some ('inflammatory response' and ('part_of' some 'liver'))) and ('has component' some 'abnormal')) http://www.orpha.net/ORDO/Orphanet_183580 Genetic malformation syndrome with odontal and/or periodontal component 'Genetic malformation syndrome with odontal and/or periodontal component' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020013 'Genetic malformation syndrome with odontal and/or periodontal component' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019755 http://www.orpha.net/ORDO/Orphanet_183583 Genetic head and neck malformation 'Genetic head and neck malformation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021147 'Genetic head and neck malformation' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Genetic head and neck malformation' SubClassOf 'head and neck disorder' http://www.ebi.ac.uk/efo/EFO_0004922 GM00719 'GM00719' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM00719' SubClassOf 'has_quality' some 'female' http://www.ebi.ac.uk/efo/EFO_0004921 GM00038 'GM00038' SubClassOf 'has_quality' some 'female' 'GM00038' SubClassOf 'derives_from' some ('fibroblast' and ('part_of' some ('zone of skin' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0004924 obsolete_ataxia telangiectasia 'obsolete_ataxia telangiectasia' SubClassOf 'obsolete class' 'obsolete_ataxia telangiectasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003620 obsolete_axial vasculature 'obsolete_axial vasculature' SubClassOf 'obsolete class' 'obsolete_axial vasculature' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003621 obsolete_intestinal bulb 'obsolete_intestinal bulb' SubClassOf 'obsolete class' 'obsolete_intestinal bulb' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/UO_0000095 volume unit 'volume unit' SubClassOf 'is_unit_of' some 'volume' http://www.ebi.ac.uk/efo/EFO_0003624 obsolete_ventricular zone 'obsolete_ventricular zone' SubClassOf 'obsolete class' 'obsolete_ventricular zone' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004955 Breslow thickness 'Breslow thickness' SubClassOf 'is_about' some 'melanoma staging' http://www.ebi.ac.uk/efo/EFO_0003625 obsolete_myoseptum 'obsolete_myoseptum' SubClassOf 'obsolete class' 'obsolete_myoseptum' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003622 obsolete_thymus primordium 'obsolete_thymus primordium' SubClassOf 'obsolete class' 'obsolete_thymus primordium' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003623 obsolete_chordo neural hinge 'obsolete_chordo neural hinge' SubClassOf 'obsolete class' 'obsolete_chordo neural hinge' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_183554 Genetic respiratory or mediastinal malformation 'Genetic respiratory or mediastinal malformation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019755 'Genetic respiratory or mediastinal malformation' SubClassOf 'has_disease_location' some ('respiratory system' or ('part_of' some 'respiratory system')) http://www.ebi.ac.uk/efo/EFO_0003628 obsolete_granulosa cell layer 'obsolete_granulosa cell layer' SubClassOf 'obsolete class' 'obsolete_granulosa cell layer' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003629 obsolete_thecal cell layer 'obsolete_thecal cell layer' SubClassOf 'obsolete class' 'obsolete_thecal cell layer' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_183545 Genetic digestive tract malformation 'Genetic digestive tract malformation' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Genetic digestive tract malformation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019755 http://purl.obolibrary.org/obo/CLO_0031612 GM14521 'GM14521' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM14521' SubClassOf 'has_quality' some 'female' 'GM14521' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0003626 obsolete_pharyngeal endoderm 'obsolete_pharyngeal endoderm' SubClassOf 'obsolete class' 'obsolete_pharyngeal endoderm' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/CLO_0031611 GM14520 'GM14520' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM14520' SubClassOf 'has_quality' some 'female' 'GM14520' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0003627 obsolete_pharyngeal pouch 'obsolete_pharyngeal pouch' SubClassOf 'obsolete class' 'obsolete_pharyngeal pouch' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_183548 Genetic visceral malformation of the liver, biliary tract, pancreas or spleen 'Genetic visceral malformation of the liver, biliary tract, pancreas or spleen' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Genetic visceral malformation of the liver, biliary tract, pancreas or spleen' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019755 http://www.orpha.net/ORDO/Orphanet_228184 Heart-hand syndrome 'Heart-hand syndrome' SubClassOf 'Genetic syndrome with limb malformations as a major feature' 'Heart-hand syndrome' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' 'Heart-hand syndrome' SubClassOf 'Genetic syndrome with limb malformations as a major feature' 'Heart-hand syndrome' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' http://www.orpha.net/ORDO/Orphanet_228179 Autosomal dominant Charcot-Marie-Tooth disease type 2M 'Autosomal dominant Charcot-Marie-Tooth disease type 2M' SubClassOf 'Autosomal dominant Charcot-Marie-Tooth disease type 2' 'Autosomal dominant Charcot-Marie-Tooth disease type 2M' SubClassOf 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type B' 'Autosomal dominant Charcot-Marie-Tooth disease type 2M' SubClassOf 'Autosomal dominant Charcot-Marie-Tooth disease type 2' http://www.ebi.ac.uk/efo/EFO_0003610 obsolete_slow muscle cell somite 10 'obsolete_slow muscle cell somite 10' SubClassOf 'obsolete class' 'obsolete_slow muscle cell somite 10' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/UBERON_0011085 palatoquadrate arch 'palatoquadrate arch' SubClassOf 'develops_from' some 'pharyngeal arch' 'palatoquadrate arch' SubClassOf 'part_of' some 'skeleton' 'palatoquadrate arch' SubClassOf 'part_of' some 'mouth' http://purl.obolibrary.org/obo/CLO_0031610 GM14508 'GM14508' SubClassOf 'has_quality' some 'female' 'GM14508' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM14508' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0003613 obsolete_lateral dorsal aorta 'obsolete_lateral dorsal aorta' SubClassOf 'obsolete class' 'obsolete_lateral dorsal aorta' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003614 obsolete_cranial division of the internal carotid artery 'obsolete_cranial division of the internal carotid artery' SubClassOf 'obsolete class' 'obsolete_cranial division of the internal carotid artery' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003611 obsolete_caudal division of the internal carotid artery 'obsolete_caudal division of the internal carotid artery' SubClassOf 'obsolete class' 'obsolete_caudal division of the internal carotid artery' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003612 obsolete_primitive internal carotid artery 'obsolete_primitive internal carotid artery' SubClassOf 'obsolete class' 'obsolete_primitive internal carotid artery' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003617 obsolete_rhombomere 'obsolete_rhombomere' SubClassOf 'obsolete class' 'obsolete_rhombomere' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003618 obsolete_neural arch 'obsolete_neural arch' SubClassOf 'obsolete class' 'obsolete_neural arch' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/CLO_0031601 GM14536 'GM14536' SubClassOf 'cultured cell' 'GM14536' SubClassOf 'has_quality' some 'female' 'GM14536' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003615 obsolete_primitive mesencephalic artery 'obsolete_primitive mesencephalic artery' SubClassOf 'obsolete class' 'obsolete_primitive mesencephalic artery' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_183557 Genetic developmental defect of the eye 'Genetic developmental defect of the eye' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019755 'Genetic developmental defect of the eye' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Genetic developmental defect of the eye' SubClassOf 'eye disease' 'Genetic developmental defect of the eye' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://purl.obolibrary.org/obo/CLO_0031600 GM14535 'GM14535' SubClassOf 'has_quality' some 'female' 'GM14535' SubClassOf 'cultured cell' 'GM14535' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003616 obsolete_posterior caudal vein 'obsolete_posterior caudal vein' SubClassOf 'obsolete class' 'obsolete_posterior caudal vein' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/CLO_0031607 GM14533 'GM14533' SubClassOf 'cultured cell' 'GM14533' SubClassOf 'has_quality' some 'female' 'GM14533' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/CLO_0031606 GM14532 'GM14532' SubClassOf 'cultured cell' 'GM14532' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM14532' SubClassOf 'has_quality' some 'female' http://purl.obolibrary.org/obo/HP_0000153 abnormality of the mouth 'abnormality of the mouth' EquivalentTo 'has part' some ('quality' and ('has component' some 'abnormal') and ('inheres in part of' some 'mouth')) http://purl.obolibrary.org/obo/CHEBI_7823 oxazepam 'oxazepam' SubClassOf 'has_role' some 'drug role' http://www.ebi.ac.uk/efo/EFO_0003619 obsolete_presumptive pronephric mesoderm 'obsolete_presumptive pronephric mesoderm' SubClassOf 'obsolete class' 'obsolete_presumptive pronephric mesoderm' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/CLO_0031609 GM14509 'GM14509' SubClassOf 'has_quality' some 'female' 'GM14509' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM14509' SubClassOf 'cultured cell' http://purl.obolibrary.org/obo/BTO_0005136 ES-E14 cell 'ES-E14 cell' SubClassOf 'derives_from' some ('stem cell' and ('part_of' some (('developmental stage' or 'organism part') and ('part_of' some 'organism')))) http://www.orpha.net/ORDO/Orphanet_228174 Autosomal dominant Charcot-Marie-Tooth disease type 2N 'Autosomal dominant Charcot-Marie-Tooth disease type 2N' SubClassOf 'Autosomal dominant Charcot-Marie-Tooth disease type 2' 'Autosomal dominant Charcot-Marie-Tooth disease type 2N' SubClassOf 'Autosomal dominant Charcot-Marie-Tooth disease type 2' http://www.orpha.net/ORDO/Orphanet_503 Autosomal dominant Larsen syndrome 'Autosomal dominant Larsen syndrome' SubClassOf 'Malformation syndrome with connective tissue involvement' 'Autosomal dominant Larsen syndrome' SubClassOf 'Primary bone dysplasia with multiple joint dislocations' 'Autosomal dominant Larsen syndrome' SubClassOf 'Orofacial clefting syndrome' 'Autosomal dominant Larsen syndrome' SubClassOf 'Filamin-related bone disorder' 'Autosomal dominant Larsen syndrome' SubClassOf 'Malformation syndrome with connective tissue involvement' 'Autosomal dominant Larsen syndrome' SubClassOf 'Primary bone dysplasia with multiple joint dislocations' 'Autosomal dominant Larsen syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 'Autosomal dominant Larsen syndrome' SubClassOf 'Orofacial clefting syndrome' 'Autosomal dominant Larsen syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 'Autosomal dominant Larsen syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 'Autosomal dominant Larsen syndrome' SubClassOf 'Filamin-related bone disorder' http://www.orpha.net/ORDO/Orphanet_502 Langer-Giedion syndrome 'Langer-Giedion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 8' 'Langer-Giedion syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Langer-Giedion syndrome' SubClassOf 'Trichorhinophalangeal syndrome' 'Langer-Giedion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 8' 'Langer-Giedion syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 'Langer-Giedion syndrome' SubClassOf 'Rare genetic neurological disorder' 'Langer-Giedion syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Langer-Giedion syndrome' SubClassOf 'Trichorhinophalangeal syndrome' 'Langer-Giedion syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Langer-Giedion syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 http://www.orpha.net/ORDO/Orphanet_501 Lafora disease 'Lafora disease' SubClassOf 'Progressive epilepsy and/or ataxia with myoclonus as a major feature' 'Lafora disease' SubClassOf 'Progressive myoclonic epilepsy' 'Lafora disease' SubClassOf 'Progressive epilepsy and/or ataxia with myoclonus as a major feature' 'Lafora disease' SubClassOf 'Progressive myoclonic epilepsy' http://www.ebi.ac.uk/efo/EFO_0003521 obsolete_torus lateralis 'obsolete_torus lateralis' SubClassOf 'obsolete class' 'obsolete_torus lateralis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003522 obsolete_ventral telencephalon 'obsolete_ventral telencephalon' SubClassOf 'obsolete class' 'obsolete_ventral telencephalon' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003520 obsolete_medial octavolateralis nucleus 'obsolete_medial octavolateralis nucleus' SubClassOf 'obsolete class' 'obsolete_medial octavolateralis nucleus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003525 obsolete_olfactory region 'obsolete_olfactory region' SubClassOf 'obsolete class' 'obsolete_olfactory region' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003526 obsolete_heart tube 'obsolete_heart tube' SubClassOf 'obsolete class' 'obsolete_heart tube' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004857 vitamin A measurement 'vitamin A measurement' SubClassOf 'is_about' some 'vitamin A' http://www.orpha.net/ORDO/Orphanet_169349 Immuno-osseous dysplasia 'Immuno-osseous dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018035 http://www.ebi.ac.uk/efo/EFO_0003523 obsolete_E-YSL 'obsolete_E-YSL' SubClassOf 'obsolete class' 'obsolete_E-YSL' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_169346 DNA repair defect other than combined T-cell and B-cell immunodeficiencies 'DNA repair defect other than combined T-cell and B-cell immunodeficiencies' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018035 'DNA repair defect other than combined T-cell and B-cell immunodeficiencies' SubClassOf 'DNA repair deficiency' http://www.ebi.ac.uk/efo/EFO_0003524 obsolete_cephalic musculature 'obsolete_cephalic musculature' SubClassOf 'obsolete class' 'obsolete_cephalic musculature' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003529 obsolete_anterior lateral line nerve 'obsolete_anterior lateral line nerve' SubClassOf 'obsolete class' 'obsolete_anterior lateral line nerve' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000903 drug-induced akathisia 'drug-induced akathisia' SubClassOf 'nervous system disease' 'drug-induced akathisia' SubClassOf 'nervous system disease' http://www.ebi.ac.uk/efo/EFO_1000904 drug-Induced dyskinesia 'drug-Induced dyskinesia' SubClassOf 'nervous system disease' 'drug-Induced dyskinesia' SubClassOf 'nervous system disease' http://www.ebi.ac.uk/efo/EFO_0003527 obsolete_pterosphenoid 'obsolete_pterosphenoid' SubClassOf 'obsolete class' 'obsolete_pterosphenoid' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000901 discrete subaortic stenosis 'discrete subaortic stenosis' SubClassOf 'subvalvular aortic stenosis' 'discrete subaortic stenosis' SubClassOf 'subvalvular aortic stenosis' http://www.ebi.ac.uk/efo/EFO_0003528 obsolete_retroarticular 'obsolete_retroarticular' SubClassOf 'obsolete class' 'obsolete_retroarticular' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004859 abdominal aortic artery calcification 'abdominal aortic artery calcification' SubClassOf 'inheres in part of' some 'artery' http://www.ebi.ac.uk/efo/EFO_1000902 drug psychosis 'drug psychosis' SubClassOf 'psychosis' 'drug psychosis' SubClassOf 'psychosis' 'drug psychosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001423 http://www.ebi.ac.uk/efo/EFO_1000900 discitis 'discitis' SubClassOf 'cartilage disease' 'discitis' SubClassOf 'vertebral joint disease' 'discitis' SubClassOf 'arthritis' 'discitis' SubClassOf 'cartilage disease' http://www.ebi.ac.uk/efo/EFO_1000909 duodenogastric reflux 'duodenogastric reflux' SubClassOf 'gastroesophageal reflux disease' 'duodenogastric reflux' SubClassOf 'has_disease_location' some ('duodenum' or ('part_of' some 'duodenum')) 'duodenogastric reflux' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002866 'duodenogastric reflux' SubClassOf 'gastroesophageal reflux disease' http://www.ebi.ac.uk/efo/EFO_1000907 duodenal benign neoplasm 'duodenal benign neoplasm' SubClassOf 'digestive system disease' 'duodenal benign neoplasm' SubClassOf 'benign neoplasm' 'duodenal benign neoplasm' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021501 'duodenal benign neoplasm' SubClassOf 'has_disease_location' some ('duodenum' or ('part_of' some 'duodenum')) 'duodenal benign neoplasm' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021375 'duodenal benign neoplasm' SubClassOf 'benign neoplasm' http://www.ebi.ac.uk/efo/EFO_1000908 duodenal obstruction 'duodenal obstruction' SubClassOf 'gastrointestinal obstruction' 'duodenal obstruction' SubClassOf 'gastrointestinal obstruction' http://www.ebi.ac.uk/efo/EFO_1000905 drug-induced hepatitis 'drug-induced hepatitis' SubClassOf 'hepatitis' 'drug-induced hepatitis' SubClassOf 'hepatitis' http://www.ebi.ac.uk/efo/EFO_1000906 dry eye syndrome 'dry eye syndrome' SubClassOf 'eye disease' 'dry eye syndrome' SubClassOf 'has_disease_location' some ('lacrimal gland' or ('part_of' some 'lacrimal gland')) 'dry eye syndrome' SubClassOf 'lacrimal apparatus disease' 'dry eye syndrome' SubClassOf 'eye disease' 'dry eye syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 http://www.orpha.net/ORDO/Orphanet_512 Metachromatic leukodystrophy 'Metachromatic leukodystrophy' SubClassOf 'Metabolic disease with dementia' 'Metachromatic leukodystrophy' SubClassOf 'Leukodystrophy' 'Metachromatic leukodystrophy' SubClassOf 'Unclassified primitive or secondary maculopathy' 'Metachromatic leukodystrophy' SubClassOf 'Sphingolipidosis' 'Metachromatic leukodystrophy' SubClassOf 'Rare hereditary metabolic disease with peripheral neuropathy' 'Metachromatic leukodystrophy' SubClassOf 'Neurometabolic disease' 'Metachromatic leukodystrophy' SubClassOf 'Metabolic disease with dementia' 'Metachromatic leukodystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018299 'Metachromatic leukodystrophy' SubClassOf 'Leukodystrophy' 'Metachromatic leukodystrophy' SubClassOf 'Unclassified primitive or secondary maculopathy' 'Metachromatic leukodystrophy' SubClassOf 'Rare hereditary metabolic disease with peripheral neuropathy' 'Metachromatic leukodystrophy' SubClassOf 'Neurometabolic disease' http://www.orpha.net/ORDO/Orphanet_511 Maple syrup urine disease 'Maple syrup urine disease' SubClassOf 'Disorder of branched-chain amino acid metabolism' 'Maple syrup urine disease' SubClassOf 'Disorder of branched-chain amino acid metabolism' http://www.orpha.net/ORDO/Orphanet_510 Lesch-Nyhan syndrome 'Lesch-Nyhan syndrome' SubClassOf 'Hypoxanthine-guanine phosphoribosyltransferase deficiency' 'Lesch-Nyhan syndrome' SubClassOf 'Hypoxanthine-guanine phosphoribosyltransferase deficiency' http://www.ebi.ac.uk/efo/EFO_0003510 obsolete_lateral ethmoid 'obsolete_lateral ethmoid' SubClassOf 'obsolete class' 'obsolete_lateral ethmoid' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003511 obsolete_mandibular muscle 'obsolete_mandibular muscle' SubClassOf 'obsolete class' 'obsolete_mandibular muscle' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004842 eosinophil count 'eosinophil count' SubClassOf 'is_about' some 'blood cell' 'eosinophil count' SubClassOf 'is_about' some 'eosinophil' 'eosinophil count' SubClassOf ('is_about' some 'Cushing syndrome') or ('is_about' some 'allergy') http://www.ebi.ac.uk/efo/EFO_0004840 cortical thickness 'cortical thickness' SubClassOf 'is_about' some 'brain' 'cortical thickness' SubClassOf 'is_about' some 'cerebral cortex' 'cortical thickness' SubClassOf 'is_about' some 'Alzheimer's disease' http://www.orpha.net/ORDO/Orphanet_183660 Severe combined immunodeficiency 'Severe combined immunodeficiency' SubClassOf 'Combined T and B cell immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0018814 DisjointWith 'Severe combined immunodeficiency' 'Severe combined immunodeficiency' SubClassOf 'Combined T and B cell immunodeficiency' http://www.ebi.ac.uk/efo/EFO_0003514 obsolete_opercle 'obsolete_opercle' SubClassOf 'obsolete class' 'obsolete_opercle' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004845 magnesium measurement 'magnesium measurement' SubClassOf 'is_about' some 'magnesium' http://www.ebi.ac.uk/efo/EFO_0003515 obsolete_paraxial mesoderm 'obsolete_paraxial mesoderm' SubClassOf 'obsolete class' 'obsolete_paraxial mesoderm' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004846 serotonin measurement 'serotonin measurement' SubClassOf 'is_about' some 'central nervous system' 'serotonin measurement' SubClassOf 'is_about' some 'serotonin' 'serotonin measurement' SubClassOf 'is_about' some 'carcinoid tumor' 'serotonin measurement' SubClassOf 'is_about' some 'mental or behavioural disorder' http://www.ebi.ac.uk/efo/EFO_0003512 obsolete_metapterygoid 'obsolete_metapterygoid' SubClassOf 'obsolete class' 'obsolete_metapterygoid' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004843 vitamin B measurement 'vitamin B measurement' SubClassOf 'is_about' some 'vitamin' http://www.orpha.net/ORDO/Orphanet_183663 Hyper-IgM syndrome with susceptibility to opportunistic infections 'Hyper-IgM syndrome with susceptibility to opportunistic infections' SubClassOf 'Combined T and B cell immunodeficiency' 'Hyper-IgM syndrome with susceptibility to opportunistic infections' DisjointWith 'Hyper-IgM syndrome without susceptibility to opportunistic infections' 'Hyper-IgM syndrome with susceptibility to opportunistic infections' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018814 'Hyper-IgM syndrome with susceptibility to opportunistic infections' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003947 http://purl.obolibrary.org/obo/CHEBI_89087 cotinine N-oxide 'cotinine N-oxide' SubClassOf 'chemical entity' 'cotinine N-oxide' SubClassOf 'chemical entity' http://www.ebi.ac.uk/efo/EFO_0003513 obsolete_neuromast 'obsolete_neuromast' SubClassOf 'obsolete class' 'obsolete_neuromast' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004844 hip bone size 'hip bone size' SubClassOf 'is_about' some 'bone' http://www.ebi.ac.uk/efo/EFO_0003518 obsolete_hair cell posterior macula 'obsolete_hair cell posterior macula' SubClassOf 'obsolete class' 'obsolete_hair cell posterior macula' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000914 empty sella syndrome 'empty sella syndrome' SubClassOf 'endocrine system disease' 'empty sella syndrome' SubClassOf 'central nervous system disease' 'empty sella syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'empty sella syndrome' SubClassOf 'endocrine system disease' 'empty sella syndrome' SubClassOf 'pituitary gland disease' 'empty sella syndrome' SubClassOf 'has_disease_location' some ('pituitary gland' or ('part_of' some 'pituitary gland')) http://www.orpha.net/ORDO/Orphanet_158687 Lethal acantholytic epidermolysis bullosa 'Lethal acantholytic epidermolysis bullosa' SubClassOf 'Suprabasal epidermolysis bullosa simplex' 'Lethal acantholytic epidermolysis bullosa' SubClassOf 'Suprabasal epidermolysis bullosa simplex' http://www.orpha.net/ORDO/Orphanet_183654 Rare genetic coagulation disorder 'Rare genetic coagulation disorder' SubClassOf 'blood coagulation disease' 'Rare genetic coagulation disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003847 'Rare genetic coagulation disorder' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Rare genetic coagulation disorder' EquivalentTo 'blood coagulation disease' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) http://www.ebi.ac.uk/efo/EFO_0003519 obsolete_subopercle 'obsolete_subopercle' SubClassOf 'obsolete class' 'obsolete_subopercle' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000915 encephalomalacia 'encephalomalacia' SubClassOf 'brain disease' 'encephalomalacia' SubClassOf 'brain disease' http://www.ebi.ac.uk/efo/EFO_0003516 obsolete_pectoral fin cartilage 'obsolete_pectoral fin cartilage' SubClassOf 'obsolete class' 'obsolete_pectoral fin cartilage' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000912 eccrine acrospiroma 'eccrine acrospiroma' SubClassOf 'sweat gland neoplasm' 'eccrine acrospiroma' SubClassOf 'neoplasm' and ('has_disease_location' some 'eccrine sweat gland') 'eccrine acrospiroma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021489 http://www.ebi.ac.uk/efo/EFO_0003517 obsolete_preopercle 'obsolete_preopercle' SubClassOf 'obsolete class' 'obsolete_preopercle' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000913 ehrlich tumor carcinoma 'ehrlich tumor carcinoma' SubClassOf 'breast carcinoma' 'ehrlich tumor carcinoma' SubClassOf 'breast carcinoma' http://www.ebi.ac.uk/efo/EFO_1000910 dysplasia of cervix 'dysplasia of cervix' SubClassOf 'has_disease_location' some ('uterine cervix' or ('part_of' some 'uterine cervix')) 'dysplasia of cervix' SubClassOf 'reproductive system disease' http://www.ebi.ac.uk/efo/EFO_1000911 dystocia 'dystocia' SubClassOf 'reproductive system disease' 'dystocia' SubClassOf 'reproductive system disease' http://www.orpha.net/ORDO/Orphanet_158681 Epidermolysis bullosa simplex with circinate migratory erythema 'Epidermolysis bullosa simplex with circinate migratory erythema' SubClassOf 'Basal epidermolysis bullosa simplex' 'Epidermolysis bullosa simplex with circinate migratory erythema' SubClassOf 'Basal epidermolysis bullosa simplex' http://www.orpha.net/ORDO/Orphanet_171680 Lissencephaly due to TUBA1A mutation 'Lissencephaly due to TUBA1A mutation' SubClassOf 'Lissencephaly' 'Lissencephaly due to TUBA1A mutation' SubClassOf 'Lissencephaly type 3' http://www.orpha.net/ORDO/Orphanet_508 Leprechaunism 'Leprechaunism' SubClassOf 'Hypertrichosis' 'Leprechaunism' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Leprechaunism' SubClassOf 'Rare insulin-resistance syndrome' 'Leprechaunism' SubClassOf 'Hypertrichosis' 'Leprechaunism' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Leprechaunism' SubClassOf 'Rare insulin-resistance syndrome' 'Leprechaunism' SubClassOf 'Inborn errors of metabolism' 'Leprechaunism' SubClassOf 'autosomal recessive disease' 'Leprechaunism' SubClassOf 'Developmental anomaly of metabolic origin' 'Leprechaunism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Leprechaunism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015333 http://www.ebi.ac.uk/efo/EFO_1000918 endolymphatic hydrops 'endolymphatic hydrops' SubClassOf 'sensory system disease' 'endolymphatic hydrops' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004900 'endolymphatic hydrops' SubClassOf 'sensory system disease' http://www.orpha.net/ORDO/Orphanet_506 Leigh syndrome 'Leigh syndrome' SubClassOf 'Syndrome with a symptomatic strabismus' 'Leigh syndrome' SubClassOf 'Mitochondrial disease with peripheral neuropathy' 'Leigh syndrome' SubClassOf 'Mitochondrial disease with eye involvement' 'Leigh syndrome' SubClassOf 'Supranuclear oculomotor palsy' 'Leigh syndrome' SubClassOf 'Neurometabolic disease' 'Leigh syndrome' SubClassOf 'Unclassified primitive or secondary maculopathy' 'Leigh syndrome' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' 'Leigh syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018859 http://www.ebi.ac.uk/efo/EFO_1000919 endometrial stromal sarcoma 'endometrial stromal sarcoma' SubClassOf 'female reproductive system disease' 'endometrial stromal sarcoma' SubClassOf 'urogenital neoplasm' 'endometrial stromal sarcoma' SubClassOf 'sarcoma' 'endometrial stromal sarcoma' SubClassOf 'has_disease_location' some ('endometrium' or ('part_of' some 'endometrium')) 'endometrial stromal sarcoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0011962 'endometrial stromal sarcoma' SubClassOf 'endometrial stromal tumor' 'endometrial stromal sarcoma' SubClassOf 'sarcoma' http://www.orpha.net/ORDO/Orphanet_158684 Epidermolysis bullosa simplex with pyloric atresia 'Epidermolysis bullosa simplex with pyloric atresia' SubClassOf 'Basal epidermolysis bullosa simplex' 'Epidermolysis bullosa simplex with pyloric atresia' SubClassOf 'Basal epidermolysis bullosa simplex' http://www.ebi.ac.uk/efo/EFO_1000916 endemic goiter 'endemic goiter' SubClassOf 'goiter' 'endemic goiter' SubClassOf 'nutritional deficiency disease' 'endemic goiter' EquivalentTo 'goiter' and 'nutritional deficiency disease' 'endemic goiter' SubClassOf 'goiter' http://www.orpha.net/ORDO/Orphanet_505 Graham Little-Piccardi-Lassueur syndrome 'Graham Little-Piccardi-Lassueur syndrome' SubClassOf 'Alopecia' 'Graham Little-Piccardi-Lassueur syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016767 'Graham Little-Piccardi-Lassueur syndrome' SubClassOf 'Alopecia' 'Graham Little-Piccardi-Lassueur syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021034 'Graham Little-Piccardi-Lassueur syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0007902 http://www.ebi.ac.uk/efo/EFO_1000917 endocrine tuberculosis 'endocrine tuberculosis' SubClassOf 'Tuberculosis' 'endocrine tuberculosis' SubClassOf 'Tuberculosis' 'endocrine tuberculosis' SubClassOf 'has_disease_location' some ('endocrine system' or ('part_of' some 'endocrine system')) http://www.orpha.net/ORDO/Orphanet_524 Li-Fraumeni syndrome 'Li-Fraumeni syndrome' SubClassOf 'Inherited cancer-predisposing syndrome' 'Li-Fraumeni syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 'Li-Fraumeni syndrome' SubClassOf 'Rare genetic neurological disorder' 'Li-Fraumeni syndrome' SubClassOf 'Inherited cancer-predisposing syndrome' 'Li-Fraumeni syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016756 'Li-Fraumeni syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017820 http://www.orpha.net/ORDO/Orphanet_172976 Congenital myopathy with cores 'Congenital myopathy with cores' SubClassOf 'Congenital myopathy' 'Congenital myopathy with cores' SubClassOf 'Congenital myopathy' http://www.orpha.net/ORDO/Orphanet_523 Hereditary leiomyomatosis and renal cell cancer 'Hereditary leiomyomatosis and renal cell cancer' SubClassOf 'Inherited renal cancer-predisposing syndrome' 'Hereditary leiomyomatosis and renal cell cancer' SubClassOf 'Genetic skin tumor' 'Hereditary leiomyomatosis and renal cell cancer' SubClassOf 'Genetic renal tumor' 'Hereditary leiomyomatosis and renal cell cancer' SubClassOf 'Inherited renal cancer-predisposing syndrome' 'Hereditary leiomyomatosis and renal cell cancer' SubClassOf 'Genetic skin tumor' http://www.ebi.ac.uk/efo/EFO_0004870 sleep measurement 'sleep measurement' SubClassOf 'is_about' some 'sleep' http://www.ebi.ac.uk/efo/EFO_0003540 obsolete_pectoral fin musculature 'obsolete_pectoral fin musculature' SubClassOf 'obsolete class' 'obsolete_pectoral fin musculature' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_169361 Immune dysregulation disease with immunodeficiency 'Immune dysregulation disease with immunodeficiency' SubClassOf 'Primary immunodeficiency due to a defect in adaptive immunity' 'Immune dysregulation disease with immunodeficiency' SubClassOf 'Primary immunodeficiency due to a defect in adaptive immunity' http://www.ebi.ac.uk/efo/EFO_0002211 JAR 'JAR' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('placenta' and ('part_of' some 'Homo sapiens')))) 'JAR' SubClassOf 'bearer_of' some 'choriocarcinoma' http://www.ebi.ac.uk/efo/EFO_0003543 obsolete_statoacoustic (VIII) ganglion 'obsolete_statoacoustic (VIII) ganglion' SubClassOf 'obsolete class' 'obsolete_statoacoustic (VIII) ganglion' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004874 memory performance 'memory performance' SubClassOf 'is_about' some 'central nervous system' 'memory performance' SubClassOf 'is_about' some 'mental or behavioural disorder' http://www.ebi.ac.uk/efo/EFO_0002210 J82 'J82' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('urinary bladder' and ('part_of' some 'Homo sapiens')))) 'J82' SubClassOf 'bearer_of' some 'bladder carcinoma' http://www.ebi.ac.uk/efo/EFO_0003544 obsolete_torus semicircularis 'obsolete_torus semicircularis' SubClassOf 'obsolete class' 'obsolete_torus semicircularis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002213 JRT3T35 'JRT3T35' SubClassOf 'bearer_of' some 'acute lymphoblastic leukemia' 'JRT3T35' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003541 obsolete_optic primordium 'obsolete_optic primordium' SubClassOf 'obsolete class' 'obsolete_optic primordium' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004872 inflammatory biomarker measurement 'inflammatory biomarker measurement' EquivalentTo 'is_about' some 'inflammatory response' http://www.ebi.ac.uk/efo/EFO_0002212 JM1 'JM1' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'JM1' SubClassOf 'bearer_of' some 'acute lymphoblastic leukemia' http://www.ebi.ac.uk/efo/EFO_0003542 obsolete_prootic 'obsolete_prootic' SubClassOf 'obsolete class' 'obsolete_prootic' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004873 cytokine measurement 'cytokine measurement' EquivalentTo 'is_about' some 'cytokine' http://www.ebi.ac.uk/efo/EFO_0002215 Jiyoye 'Jiyoye' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'Jiyoye' SubClassOf 'bearer_of' some 'Burkitts lymphoma' http://www.ebi.ac.uk/efo/EFO_0003547 obsolete_quadrate 'obsolete_quadrate' SubClassOf 'obsolete class' 'obsolete_quadrate' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002214 JVM3 'JVM3' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'JVM3' SubClassOf 'bearer_of' some 'acute lymphoblastic leukemia' http://www.ebi.ac.uk/efo/EFO_0003548 obsolete_epihyal 'obsolete_epihyal' SubClassOf 'obsolete class' 'obsolete_epihyal' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002217 KATOIII 'KATOIII' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('stomach' and ('part_of' some 'Homo sapiens')))) 'KATOIII' SubClassOf 'bearer_of' some 'gastric carcinoma' http://www.ebi.ac.uk/efo/EFO_0003545 obsolete_valvula cerebelli 'obsolete_valvula cerebelli' SubClassOf 'obsolete class' 'obsolete_valvula cerebelli' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002216 obsolete_K562 'obsolete_K562' SubClassOf 'obsolete class' 'obsolete_K562' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003546 obsolete_vertical myoseptum 'obsolete_vertical myoseptum' SubClassOf 'obsolete class' 'obsolete_vertical myoseptum' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_183631 Rare genetic thyroid disease 'Rare genetic thyroid disease' SubClassOf 'has_disease_location' some 'thyroid gland' http://www.ebi.ac.uk/efo/EFO_0002219 KHOS240S 'KHOS240S' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('bone' and ('part_of' some 'Homo sapiens')))) 'KHOS240S' SubClassOf 'bearer_of' some 'osteosarcoma' http://www.ebi.ac.uk/efo/EFO_1000925 epithelioid and spindle cell nevus 'epithelioid and spindle cell nevus' SubClassOf 'nevus' 'epithelioid and spindle cell nevus' SubClassOf 'nevus' http://www.ebi.ac.uk/efo/EFO_0002218 KG1 'KG1' SubClassOf 'bearer_of' some 'acute myeloid leukemia' 'KG1' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_1000926 Erdheim-Chester disease 'Erdheim-Chester disease' SubClassOf 'histiocytoma' 'Erdheim-Chester disease' SubClassOf 'disease has feature' some 'Histiocytic and Dendritic Cell Neoplasm' 'Erdheim-Chester disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015531 'Erdheim-Chester disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017955 'Erdheim-Chester disease' SubClassOf 'histiocytoma' http://www.orpha.net/ORDO/Orphanet_183622 Genetic respiratory malformation 'Genetic respiratory malformation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020001 http://www.ebi.ac.uk/efo/EFO_0003549 obsolete_caudal tuberculum 'obsolete_caudal tuberculum' SubClassOf 'obsolete class' 'obsolete_caudal tuberculum' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000923 epidural neoplasm 'epidural neoplasm' SubClassOf 'spinal cord neoplasm' 'epidural neoplasm' SubClassOf 'spinal cord neoplasm' http://www.ebi.ac.uk/efo/EFO_1000924 epilepsia partialis continua 'epilepsia partialis continua' SubClassOf 'epilepsy' 'epilepsia partialis continua' SubClassOf 'epilepsy' http://www.ebi.ac.uk/efo/EFO_1000921 endomyocardial fibrosis 'endomyocardial fibrosis' SubClassOf 'restrictive cardiomyopathy' 'endomyocardial fibrosis' EquivalentTo 'fibrosis' and ('has_disease_location' some 'myocardium') 'endomyocardial fibrosis' SubClassOf 'restrictive cardiomyopathy' http://www.ebi.ac.uk/efo/EFO_1000922 enterotoxemia 'enterotoxemia' SubClassOf 'animal disease' 'enterotoxemia' SubClassOf 'animal disease' http://www.ebi.ac.uk/efo/EFO_1000920 endometrial stromal tumor 'endometrial stromal tumor' SubClassOf 'endometrial neoplasm' 'endometrial stromal tumor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021251 'endometrial stromal tumor' SubClassOf 'endometrial neoplasm' http://www.orpha.net/ORDO/Orphanet_183628 Rare genetic hypothalamic or pituitary disease 'Rare genetic hypothalamic or pituitary disease' SubClassOf 'endocrine system disease' 'Rare genetic hypothalamic or pituitary disease' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://www.ebi.ac.uk/efo/EFO_1000929 Escherichia coli meningitis 'Escherichia coli meningitis' SubClassOf 'bacterial meningitis' 'Escherichia coli meningitis' SubClassOf 'bacterial meningitis' http://www.ebi.ac.uk/efo/EFO_1000927 obsolete_Erysipelothrix infectious disease 'obsolete_Erysipelothrix infectious disease' SubClassOf 'obsolete class' 'obsolete_Erysipelothrix infectious disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000928 Erysipelothrix rhusiopathiae infectious disease 'Erysipelothrix rhusiopathiae infectious disease' SubClassOf 'bacterial disease' 'Erysipelothrix rhusiopathiae infectious disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0006751 'Erysipelothrix rhusiopathiae infectious disease' SubClassOf 'bacterial disease' http://www.orpha.net/ORDO/Orphanet_169355 Immunodeficiency syndrome with autoimmunity 'Immunodeficiency syndrome with autoimmunity' SubClassOf 'Immune dysregulation disease with immunodeficiency' 'Immunodeficiency syndrome with autoimmunity' SubClassOf 'Immune dysregulation disease with immunodeficiency' http://www.orpha.net/ORDO/Orphanet_534 Oculocerebrorenal syndrome 'Oculocerebrorenal syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Oculocerebrorenal syndrome' SubClassOf 'Disorder of amino acid absorption and transport' 'Oculocerebrorenal syndrome' SubClassOf 'Renal disease with cataract' 'Oculocerebrorenal syndrome' SubClassOf 'Metabolic disease with cataract' 'Oculocerebrorenal syndrome' SubClassOf 'Rare disease with glaucoma as a major feature' 'Oculocerebrorenal syndrome' SubClassOf 'Syndromic neurometabolic disease with X-linked intellectual disability' 'Oculocerebrorenal syndrome' SubClassOf 'Genetic renal tubular disease' 'Oculocerebrorenal syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Oculocerebrorenal syndrome' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'Oculocerebrorenal syndrome' SubClassOf 'Developmental anomaly of metabolic origin' 'Oculocerebrorenal syndrome' SubClassOf 'Disorder of amino acid absorption and transport' 'Oculocerebrorenal syndrome' SubClassOf 'Renal disease with cataract' 'Oculocerebrorenal syndrome' SubClassOf 'Metabolic disease with cataract' 'Oculocerebrorenal syndrome' SubClassOf 'Rare disease with glaucoma as a major feature' 'Oculocerebrorenal syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019744 'Oculocerebrorenal syndrome' SubClassOf 'Genetic renal tubular disease' 'Oculocerebrorenal syndrome' SubClassOf 'Syndromic neurometabolic disease with X-linked intellectual disability' http://www.ebi.ac.uk/efo/EFO_0004860 common carotid intimal medial thickness 'common carotid intimal medial thickness' SubClassOf 'is_about' some 'blood vessel' 'common carotid intimal medial thickness' SubClassOf 'is_about' some 'cardiovascular disease' http://www.orpha.net/ORDO/Orphanet_531 Miller-Dieker syndrome 'Miller-Dieker syndrome' SubClassOf 'Partial monosomy of the short arm of chromosome 17' 'Miller-Dieker syndrome' SubClassOf 'Classic lissencephaly' 'Miller-Dieker syndrome' SubClassOf 'Partial monosomy of the short arm of chromosome 17' 'Miller-Dieker syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015652 'Miller-Dieker syndrome' SubClassOf 'Classic lissencephaly' http://www.orpha.net/ORDO/Orphanet_530 Lipoid proteinosis 'Lipoid proteinosis' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Lipoid proteinosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 'Lipoid proteinosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021154 'Lipoid proteinosis' SubClassOf 'Disorder of lipid metabolism' 'Lipoid proteinosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018798 'Lipoid proteinosis' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Lipoid proteinosis' SubClassOf 'Developmental anomaly of metabolic origin' http://www.ebi.ac.uk/efo/EFO_0002200 HT 'HT' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'HT' SubClassOf 'bearer_of' some 'lymphoma' http://www.ebi.ac.uk/efo/EFO_0003532 obsolete_paraventricular organ 'obsolete_paraventricular organ' SubClassOf 'obsolete class' 'obsolete_paraventricular organ' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004863 recombination rate 'recombination rate' SubClassOf 'is_about' some 'recombination' 'recombination rate' SubClassOf 'is_about' some 'genome' http://www.ebi.ac.uk/efo/EFO_0003533 obsolete_caudal tuberal nucleus 'obsolete_caudal tuberal nucleus' SubClassOf 'obsolete class' 'obsolete_caudal tuberal nucleus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004864 renal sinus adipose tissue measurement 'renal sinus adipose tissue measurement' SubClassOf ('is_about' some 'obesity') and ('is_about' some 'kidney disease') 'renal sinus adipose tissue measurement' SubClassOf 'is_about' some 'adipose tissue' 'renal sinus adipose tissue measurement' SubClassOf 'is_about' some 'renal system' http://www.ebi.ac.uk/efo/EFO_0002202 HT1197 'HT1197' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('urinary bladder' and ('part_of' some 'Homo sapiens')))) 'HT1197' SubClassOf 'bearer_of' some 'bladder carcinoma' http://www.ebi.ac.uk/efo/EFO_0003530 obsolete_anguloarticular 'obsolete_anguloarticular' SubClassOf 'obsolete class' 'obsolete_anguloarticular' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004861 phosphorus measurement 'phosphorus measurement' SubClassOf ('is_about' some 'Hypercalcemia') or ('is_about' some 'liver disease') or ('is_about' some 'kidney disease') or ('is_about' some 'vitamin D deficiency') or ('is_about' some 'parathyroid disease') http://www.ebi.ac.uk/efo/EFO_0002201 obsolete_HT1080 'obsolete_HT1080' SubClassOf 'obsolete class' 'obsolete_HT1080' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003531 obsolete_trunk musculature 'obsolete_trunk musculature' SubClassOf 'obsolete class' 'obsolete_trunk musculature' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004862 phytosterol measurement 'phytosterol measurement' SubClassOf 'is_about' some 'phytosterol' http://www.ebi.ac.uk/efo/EFO_0002204 HT3 'HT3' SubClassOf 'derives_from' some 'cervical carcinoma' 'HT3' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('uterine cervix' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003536 obsolete_hyoid muscle 'obsolete_hyoid muscle' SubClassOf 'obsolete class' 'obsolete_hyoid muscle' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004867 vitamin E measurement 'vitamin E measurement' SubClassOf 'is_about' some 'vitamin' http://www.ebi.ac.uk/efo/EFO_0002203 HT1376 'HT1376' SubClassOf 'bearer_of' some 'bladder carcinoma' 'HT1376' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('urinary bladder' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003537 obsolete_marginal blastomere 'obsolete_marginal blastomere' SubClassOf 'obsolete class' 'obsolete_marginal blastomere' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004868 volumetric brain MRI 'volumetric brain MRI' SubClassOf 'is_about' some 'central nervous system' 'volumetric brain MRI' SubClassOf 'is_about' some 'volume' 'volumetric brain MRI' SubClassOf 'is_about' some 'brain' http://www.ebi.ac.uk/efo/EFO_0002206 obsolete_HepG2 'obsolete_HepG2' SubClassOf 'obsolete class' 'obsolete_HepG2' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003534 obsolete_dorsal telencephalon 'obsolete_dorsal telencephalon' SubClassOf 'obsolete class' 'obsolete_dorsal telencephalon' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004865 thyroid volume 'thyroid volume' SubClassOf 'is_about' some 'thyroid gland' http://www.ebi.ac.uk/efo/EFO_0002205 Hep3B 'Hep3B' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('liver' and ('part_of' some 'Homo sapiens')))) 'Hep3B' SubClassOf 'bearer_of' some 'hepatocellular carcinoma' http://www.ebi.ac.uk/efo/EFO_0003535 obsolete_periventricular grey zone 'obsolete_periventricular grey zone' SubClassOf 'obsolete class' 'obsolete_periventricular grey zone' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004866 autoantibody measurement 'autoantibody measurement' SubClassOf 'is_about' some ('autoimmune disease' and ('has_role' some 'biomarker')) 'autoantibody measurement' SubClassOf 'is_about' some 'antibody' http://www.ebi.ac.uk/efo/EFO_0002208 HuPT4 'HuPT4' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('pancreas' and ('part_of' some 'Homo sapiens')))) 'HuPT4' SubClassOf 'bearer_of' some 'pancreatic carcinoma' http://www.ebi.ac.uk/efo/EFO_1000936 femoral neuropathy 'femoral neuropathy' SubClassOf 'mononeuropathy' 'femoral neuropathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024334 'femoral neuropathy' SubClassOf 'mononeuropathy' 'femoral neuropathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044967 http://www.ebi.ac.uk/efo/EFO_0002207 HuNS1 'HuNS1' SubClassOf 'cancer cell line' 'HuNS1' SubClassOf 'derives_from' some ('lymphoblast' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'HuNS1' SubClassOf 'bearer_of' some 'multiple myeloma' 'HuNS1' SubClassOf 'lymphoma or leukaemia cell line' http://www.ebi.ac.uk/efo/EFO_1000937 fetal erythroblastosis 'fetal erythroblastosis' SubClassOf 'hematologic disease' 'fetal erythroblastosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001245 'fetal erythroblastosis' SubClassOf 'has_disease_location' some 'erythroblast' 'fetal erythroblastosis' SubClassOf 'hematologic disease' http://www.ebi.ac.uk/efo/EFO_0003538 obsolete_posttemporal 'obsolete_posttemporal' SubClassOf 'obsolete class' 'obsolete_posttemporal' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004869 YKL40 measurement 'YKL40 measurement' SubClassOf ('is_about' some 'asthma') or ('is_about' some 'cancer') 'YKL40 measurement' SubClassOf 'is_about' some 'glycoprotein' 'YKL40 measurement' SubClassOf 'is_about' some 'cytokine' 'YKL40 measurement' SubClassOf 'is_about' some 'inflammatory response' http://www.ebi.ac.uk/efo/EFO_1000934 eyelid neoplasm 'eyelid neoplasm' SubClassOf 'skin neoplasm' 'eyelid neoplasm' SubClassOf 'eye disease' 'eyelid neoplasm' SubClassOf 'skin neoplasm' 'eyelid neoplasm' SubClassOf 'has_disease_location' some ('eyelid' or ('part_of' some 'eyelid')) 'eyelid neoplasm' SubClassOf 'eyelid disease' 'eyelid neoplasm' SubClassOf 'eye neoplasm' 'eyelid neoplasm' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://www.orpha.net/ORDO/Orphanet_183634 Rare genetic parathyroid disease and phosphocalcic metabolism disorder 'Rare genetic parathyroid disease and phosphocalcic metabolism disorder' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Rare genetic parathyroid disease and phosphocalcic metabolism disorder' SubClassOf 'parathyroid disease' http://www.ebi.ac.uk/efo/EFO_0002209 HuT78 'HuT78' SubClassOf 'bearer_of' some 'lymphoma' 'HuT78' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003539 obsolete_otolith organ 'obsolete_otolith organ' SubClassOf 'obsolete class' 'obsolete_otolith organ' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000935 female genital tuberculosis 'female genital tuberculosis' SubClassOf 'reproductive system disease' 'female genital tuberculosis' SubClassOf 'has_disease_location' some ('female reproductive system' or ('part_of' some 'female reproductive system')) http://www.ebi.ac.uk/efo/EFO_1000932 extracutaneous mastocytoma 'extracutaneous mastocytoma' SubClassOf 'neoplasm' 'extracutaneous mastocytoma' SubClassOf 'neoplasm' 'extracutaneous mastocytoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016586 'extracutaneous mastocytoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003079 http://www.ebi.ac.uk/efo/EFO_1000933 extrahepatic cholestasis 'extrahepatic cholestasis' SubClassOf 'Non-Neoplastic Bile Duct Disorder' 'extrahepatic cholestasis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001751 'extrahepatic cholestasis' SubClassOf 'has_disease_location' some ('bile duct' or ('part_of' some 'bile duct')) 'extrahepatic cholestasis' SubClassOf 'Non-Neoplastic Bile Duct Disorder' http://www.ebi.ac.uk/efo/EFO_1000930 esophageal diverticulosis 'esophageal diverticulosis' SubClassOf 'esophageal disease' 'esophageal diverticulosis' SubClassOf 'digestive system disease' 'esophageal diverticulosis' SubClassOf 'esophageal disease' 'esophageal diverticulosis' SubClassOf 'has_disease_location' some ('esophagus' or ('part_of' some 'esophagus')) http://www.ebi.ac.uk/efo/EFO_1000931 euthyroid sick syndrome 'euthyroid sick syndrome' SubClassOf 'thyroid disease' 'euthyroid sick syndrome' SubClassOf 'thyroid disease' 'euthyroid sick syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 http://purl.obolibrary.org/obo/PO_0025197 stele 'stele' SubClassOf 'plant anatomical entity' 'stele' SubClassOf 'plant anatomical entity' http://www.orpha.net/ORDO/Orphanet_529 Roch-Leri mesosomatous lipomatosis 'Roch-Leri mesosomatous lipomatosis' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Roch-Leri mesosomatous lipomatosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019296 http://purl.obolibrary.org/obo/PO_0025196 basal endosperm transfer layer 'basal endosperm transfer layer' SubClassOf 'endosperm' 'basal endosperm transfer layer' SubClassOf 'endosperm' http://www.orpha.net/ORDO/Orphanet_528 Berardinelli-Seip congenital lipodystrophy 'Berardinelli-Seip congenital lipodystrophy' SubClassOf 'Rare insulin-resistance syndrome' 'Berardinelli-Seip congenital lipodystrophy' SubClassOf 'Genetic lipodystrophy' 'Berardinelli-Seip congenital lipodystrophy' SubClassOf 'Developmental anomaly of metabolic origin' 'Berardinelli-Seip congenital lipodystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015333 'Berardinelli-Seip congenital lipodystrophy' SubClassOf 'Rare insulin-resistance syndrome' 'Berardinelli-Seip congenital lipodystrophy' SubClassOf 'Genetic lipodystrophy' http://www.ebi.ac.uk/efo/EFO_1000938 fibromuscular dysplasia 'fibromuscular dysplasia' SubClassOf 'cardiovascular disease' 'fibromuscular dysplasia' SubClassOf 'cardiovascular disease' http://www.orpha.net/ORDO/Orphanet_217407 Hereditary hypotrichosis with recurrent skin vesicles 'Hereditary hypotrichosis with recurrent skin vesicles' SubClassOf 'Alopecia' 'Hereditary hypotrichosis with recurrent skin vesicles' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021034 'Hereditary hypotrichosis with recurrent skin vesicles' SubClassOf 'Alopecia' http://www.ebi.ac.uk/efo/EFO_1000939 freemartinism 'freemartinism' SubClassOf 'reproductive system disease' 'freemartinism' SubClassOf 'reproductive system disease' 'freemartinism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024913 'freemartinism' SubClassOf 'Sex chromosome disorder of sex development' http://www.orpha.net/ORDO/Orphanet_526 Liddle syndrome 'Liddle syndrome' SubClassOf 'Genetic hypertension' 'Liddle syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Liddle syndrome' SubClassOf 'renal tubular transport disease' 'Liddle syndrome' SubClassOf 'Genetic hypertension' http://www.orpha.net/ORDO/Orphanet_171622 Autosomal recessive spastic paraplegia type 32 'Autosomal recessive spastic paraplegia type 32' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Autosomal recessive spastic paraplegia type 32' SubClassOf 'Autosomal recessive complex spastic paraplegia' http://www.ebi.ac.uk/efo/EFO_0003561 obsolete_tangential nucleus 'obsolete_tangential nucleus' SubClassOf 'obsolete class' 'obsolete_tangential nucleus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003562 obsolete_telencephalic ventricle 'obsolete_telencephalic ventricle' SubClassOf 'obsolete class' 'obsolete_telencephalic ventricle' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004893 testicular dysgenesis syndrome 'testicular dysgenesis syndrome' SubClassOf 'testicular disease' 'testicular dysgenesis syndrome' SubClassOf 'has_disease_location' some 'testis' 'testicular dysgenesis syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001967 'testicular dysgenesis syndrome' SubClassOf 'testicular disease' http://www.ebi.ac.uk/efo/EFO_0002231 MEC1 'MEC1' SubClassOf 'bearer_of' some 'chronic lymphocytic leukemia' 'MEC1' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0002230 MCIXC 'MCIXC' SubClassOf 'bearer_of' some 'neuroblastoma' 'MCIXC' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('central nervous system' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003560 obsolete_symplectic 'obsolete_symplectic' SubClassOf 'obsolete class' 'obsolete_symplectic' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_540 Familial hemophagocytic lymphohistiocytosis 'Familial hemophagocytic lymphohistiocytosis' SubClassOf 'Primary hemophagocytic lymphohistiocytosis' 'Familial hemophagocytic lymphohistiocytosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015144 'Familial hemophagocytic lymphohistiocytosis' SubClassOf 'Rare genetic neurological disorder' 'Familial hemophagocytic lymphohistiocytosis' SubClassOf 'Primary hemophagocytic lymphohistiocytosis' http://www.ebi.ac.uk/efo/EFO_0002233 MESSA 'MESSA' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('uterus' and ('part_of' some 'Homo sapiens')))) 'MESSA' SubClassOf 'bearer_of' some 'uterine sarcoma' http://www.ebi.ac.uk/efo/EFO_0003565 obsolete_somite 2 'obsolete_somite 2' SubClassOf 'obsolete class' 'obsolete_somite 2' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_171629 Autosomal recessive spastic paraplegia type 35 'Autosomal recessive spastic paraplegia type 35' SubClassOf 'Pure or complex autosomal recessive spastic paraplegia' 'Autosomal recessive spastic paraplegia type 35' SubClassOf 'Pure or complex autosomal recessive spastic paraplegia' http://www.ebi.ac.uk/efo/EFO_0002232 MEG01 'MEG01' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'MEG01' SubClassOf 'bearer_of' some 'chronic myelogenous leukemia' http://www.ebi.ac.uk/efo/EFO_0003566 obsolete_somite 3 'obsolete_somite 3' SubClassOf 'obsolete class' 'obsolete_somite 3' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000940 Frey Syndrome 'Frey Syndrome' SubClassOf 'autonomic nervous system disease' 'Frey Syndrome' SubClassOf 'Rare genetic neurological disorder' 'Frey Syndrome' SubClassOf 'nervous system disease' 'Frey Syndrome' SubClassOf 'autonomic nervous system disease' http://www.ebi.ac.uk/efo/EFO_0002235 MHHPREB1 'MHHPREB1' SubClassOf 'bearer_of' some 'lymphoid neoplasm' 'MHHPREB1' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003563 obsolete_I-YSL 'obsolete_I-YSL' SubClassOf 'obsolete class' 'obsolete_I-YSL' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004894 obsolete_tetralogy of fallot 'obsolete_tetralogy of fallot' SubClassOf 'obsolete class' 'obsolete_tetralogy of fallot' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002234 MG63 'MG63' SubClassOf 'bearer_of' some 'osteosarcoma' 'MG63' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('bone' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003564 obsolete_somite 14 'obsolete_somite 14' SubClassOf 'obsolete class' 'obsolete_somite 14' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004895 Tourette syndrome 'Tourette syndrome' SubClassOf 'central nervous system disease' 'Tourette syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Tourette syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002420 'Tourette syndrome' SubClassOf 'has_disease_location' some ('central nervous system' or ('part_of' some 'central nervous system')) 'Tourette syndrome' SubClassOf 'Rare genetic tremor disorder' 'Tourette syndrome' SubClassOf 'Rare genetic movement disorder' http://www.ebi.ac.uk/efo/EFO_0002237 MJ 'MJ' SubClassOf 'bearer_of' some 'T-cell acute lymphoblastic leukemia' 'MJ' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003569 obsolete_floor plate rhombomere 5 'obsolete_floor plate rhombomere 5' SubClassOf 'obsolete class' 'obsolete_floor plate rhombomere 5' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002236 MIA Paca-2 'MIA Paca-2' SubClassOf 'bearer_of' some 'pancreatic carcinoma' 'MIA Paca-2' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('pancreas' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0002239 MOLT16 'MOLT16' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'MOLT16' SubClassOf 'bearer_of' some 'acute lymphoblastic leukemia' 'MOLT16' SubClassOf 'derives_from' some 'European' http://www.ebi.ac.uk/efo/EFO_0003567 obsolete_basal plate midbrain region 'obsolete_basal plate midbrain region' SubClassOf 'obsolete class' 'obsolete_basal plate midbrain region' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002238 ML2 'ML2' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'ML2' SubClassOf 'bearer_of' some 'acute myeloid leukemia' http://www.ebi.ac.uk/efo/EFO_0003568 obsolete_floor plate rhombomere 2 'obsolete_floor plate rhombomere 2' SubClassOf 'obsolete class' 'obsolete_floor plate rhombomere 2' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000947 gastric outlet obstruction 'gastric outlet obstruction' SubClassOf 'digestive system disease' 'gastric outlet obstruction' SubClassOf 'digestive system disease' http://www.orpha.net/ORDO/Orphanet_79503 Ichthyosis hystrix of Curth-Macklin 'Ichthyosis hystrix of Curth-Macklin' SubClassOf 'Keratinopathic ichthyosis' 'Ichthyosis hystrix of Curth-Macklin' SubClassOf 'Keratinopathic ichthyosis' http://www.ebi.ac.uk/efo/EFO_1000948 gastroparesis 'gastroparesis' SubClassOf 'digestive system disease' 'gastroparesis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001318 'gastroparesis' SubClassOf 'has_disease_location' some ('stomach' or ('part_of' some 'stomach')) 'gastroparesis' SubClassOf 'digestive system disease' http://www.orpha.net/ORDO/Orphanet_79502 Punctate palmoplantar keratoderma type 2 'Punctate palmoplantar keratoderma type 2' SubClassOf 'Isolated punctate palmoplantar keratoderma' 'Punctate palmoplantar keratoderma type 2' SubClassOf 'Isolated punctate palmoplantar keratoderma' http://www.ebi.ac.uk/efo/EFO_1000945 gastric antral vascular ectasia 'gastric antral vascular ectasia' SubClassOf 'vascular disease' 'gastric antral vascular ectasia' SubClassOf 'vascular disease' 'gastric antral vascular ectasia' SubClassOf 'has_disease_location' some ('pyloric antrum' or ('part_of' some 'pyloric antrum')) 'gastric antral vascular ectasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001574 'gastric antral vascular ectasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021658 http://www.orpha.net/ORDO/Orphanet_183601 Rare genetic refraction anomaly 'Rare genetic refraction anomaly' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Rare genetic refraction anomaly' SubClassOf 'eye disease' http://www.ebi.ac.uk/efo/EFO_1000946 gastric mucosal hypertrophy 'gastric mucosal hypertrophy' SubClassOf 'gastritis' 'gastric mucosal hypertrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003847 'gastric mucosal hypertrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015111 'gastric mucosal hypertrophy' SubClassOf 'gastritis' http://www.orpha.net/ORDO/Orphanet_79504 Ichthyosis hystrix gravior 'Ichthyosis hystrix gravior' SubClassOf 'Keratinopathic ichthyosis' 'Ichthyosis hystrix gravior' SubClassOf 'Keratinopathic ichthyosis' http://www.ebi.ac.uk/efo/EFO_1000943 Fusobacterium infectious disease 'Fusobacterium infectious disease' SubClassOf 'bacterial disease' 'Fusobacterium infectious disease' SubClassOf 'primary Fusobacteriaceae infectious disease' 'Fusobacterium infectious disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024389 'Fusobacterium infectious disease' SubClassOf 'bacterial disease' http://www.ebi.ac.uk/efo/EFO_1000944 gait apraxia 'gait apraxia' SubClassOf 'nervous system disease' 'gait apraxia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000665 'gait apraxia' SubClassOf 'nervous system disease' http://www.ebi.ac.uk/efo/EFO_1000941 frozen shoulder 'frozen shoulder' SubClassOf 'muscular disease' 'frozen shoulder' SubClassOf 'connective tissue disease' 'frozen shoulder' SubClassOf 'muscular disease' http://www.orpha.net/ORDO/Orphanet_79501 Punctate palmoplantar keratoderma type 1 'Punctate palmoplantar keratoderma type 1' SubClassOf 'Isolated punctate palmoplantar keratoderma' 'Punctate palmoplantar keratoderma type 1' SubClassOf 'Isolated punctate palmoplantar keratoderma' http://www.ebi.ac.uk/efo/EFO_1000942 fungal meningitis 'fungal meningitis' SubClassOf 'infectious meningitis' 'fungal meningitis' SubClassOf 'infectious meningitis' 'fungal meningitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021108 'fungal meningitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002041 http://www.orpha.net/ORDO/Orphanet_79500 DOORS syndrome 'DOORS syndrome' SubClassOf 'Deafness-onychodystrophy syndrome' 'DOORS syndrome' SubClassOf 'Deafness-onychodystrophy syndrome' http://www.orpha.net/ORDO/Orphanet_183607 Genetic lens and zonula anomaly 'Genetic lens and zonula anomaly' SubClassOf 'has_disease_location' some 'eye' http://purl.obolibrary.org/obo/PO_0001170 seed development stage 'seed development stage' SubClassOf 'plant structure development stage' 'seed development stage' SubClassOf 'plant structure development stage' http://www.orpha.net/ORDO/Orphanet_398166 Focal facial dermal dysplasia 'Focal facial dermal dysplasia' SubClassOf 'Ectodermal dysplasia syndrome' 'Focal facial dermal dysplasia' SubClassOf 'Ectodermal dysplasia syndrome' http://www.ebi.ac.uk/efo/EFO_1000949 gastroschisis 'gastroschisis' SubClassOf 'genetic disorder' 'gastroschisis' SubClassOf 'Primary short bowel syndrome' 'gastroschisis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015215 'gastroschisis' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_538 Lymphangioleiomyomatosis 'Lymphangioleiomyomatosis' SubClassOf 'respiratory system neoplasm' 'Lymphangioleiomyomatosis' SubClassOf 'PEComa' http://www.orpha.net/ORDO/Orphanet_558 Marfan syndrome 'Marfan syndrome' SubClassOf 'Rare disease with thoracic aortic aneurysm and aortic dissection' 'Marfan syndrome' SubClassOf 'Malformation syndrome with connective tissue involvement' 'Marfan syndrome' SubClassOf 'Marfan and Marfan-related disorder' 'Marfan syndrome' SubClassOf 'Lens position anomaly' 'Marfan syndrome' SubClassOf 'Syndromic myopia' 'Marfan syndrome' SubClassOf 'Syndromic keratoconus' 'Marfan syndrome' SubClassOf 'Connective tissue disease with eye involvement' 'Marfan syndrome' SubClassOf 'Rare disease with thoracic aortic aneurysm and aortic dissection' 'Marfan syndrome' SubClassOf 'Malformation syndrome with connective tissue involvement' 'Marfan syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Marfan syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 'Marfan syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043218 'Marfan syndrome' SubClassOf 'Marfan and Marfan-related disorder' 'Marfan syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 'Marfan syndrome' SubClassOf 'Lens position anomaly' 'Marfan syndrome' SubClassOf 'Syndromic myopia' 'Marfan syndrome' SubClassOf 'Syndromic keratoconus' 'Marfan syndrome' SubClassOf 'Connective tissue disease with eye involvement' 'Marfan syndrome' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_557 Isolated anorectal malformation 'Isolated anorectal malformation' SubClassOf 'Anorectal malformation' 'Isolated anorectal malformation' SubClassOf 'Anorectal malformation' 'Isolated anorectal malformation' EquivalentTo 'Anorectal malformation' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021128) 'Isolated anorectal malformation' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021128 http://www.orpha.net/ORDO/Orphanet_231720 Non-acquired combined pituitary hormone deficiency with spine abnormalities 'Non-acquired combined pituitary hormone deficiency with spine abnormalities' SubClassOf 'Disease associated with non-acquired combined pituitary hormone deficiency' 'Non-acquired combined pituitary hormone deficiency with spine abnormalities' SubClassOf 'Combined pituitary hormone deficiencies, genetic forms' 'Non-acquired combined pituitary hormone deficiency with spine abnormalities' SubClassOf 'Disease associated with non-acquired combined pituitary hormone deficiency' http://www.ebi.ac.uk/efo/EFO_0003550 obsolete_descending octaval nucleus 'obsolete_descending octaval nucleus' SubClassOf 'obsolete class' 'obsolete_descending octaval nucleus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003551 obsolete_dorsal fin musculature 'obsolete_dorsal fin musculature' SubClassOf 'obsolete class' 'obsolete_dorsal fin musculature' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004882 obsolete_avelline corneal dystrophy 'obsolete_avelline corneal dystrophy' SubClassOf 'obsolete class' 'obsolete_avelline corneal dystrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002220 KLE 'KLE' SubClassOf 'derives_from' some 'endometrioid carcinoma' 'KLE' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.orpha.net/ORDO/Orphanet_552 MODY 'MODY' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015887 http://www.ebi.ac.uk/efo/EFO_0004880 urinary arsenic measurement 'urinary arsenic measurement' SubClassOf 'is_about' some 'arsenic' http://www.orpha.net/ORDO/Orphanet_551 MERRF 'MERRF' SubClassOf 'Mitochondrial disease with dilated cardiomyopathy' 'MERRF' SubClassOf 'Mitochondrial disease with peripheral neuropathy' 'MERRF' SubClassOf 'Progressive myoclonic epilepsy' 'MERRF' SubClassOf 'Neurometabolic disease' 'MERRF' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' 'MERRF' SubClassOf 'Mitochondrial disease with hypertrophic cardiomyopathy' 'MERRF' SubClassOf 'Mitochondrial myopathy' 'MERRF' SubClassOf 'Mitochondrial disease with eye involvement' 'MERRF' SubClassOf 'Mitochondrial disease with dilated cardiomyopathy' 'MERRF' SubClassOf 'Mitochondrial disease with peripheral neuropathy' 'MERRF' SubClassOf 'Progressive myoclonic epilepsy' 'MERRF' SubClassOf 'Neurometabolic disease' 'MERRF' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004675 'MERRF' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'MERRF' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016402 'MERRF' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' 'MERRF' SubClassOf 'Mitochondrial disease with hypertrophic cardiomyopathy' 'MERRF' SubClassOf 'Early myoclonic encephalopathy' 'MERRF' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000414 'MERRF' SubClassOf 'Mitochondrial disease with eye involvement' http://www.ebi.ac.uk/efo/EFO_0002222 KU812 'KU812' SubClassOf 'bearer_of' some 'chronic myelogenous leukemia' 'KU812' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003554 obsolete_gill filament 'obsolete_gill filament' SubClassOf 'obsolete class' 'obsolete_gill filament' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004885 early cardiac repolarization measurement 'early cardiac repolarization measurement' SubClassOf 'is_about' some 'cardiovascular system' http://www.ebi.ac.uk/efo/EFO_1000950 giant cell reparative granuloma 'giant cell reparative granuloma' SubClassOf 'bone giant cell tumor' 'giant cell reparative granuloma' SubClassOf 'bone giant cell tumor' http://www.orpha.net/ORDO/Orphanet_550 MELAS 'MELAS' SubClassOf 'Mitochondrial disease with dilated cardiomyopathy' 'MELAS' SubClassOf 'Mitochondrial myopathy' 'MELAS' SubClassOf 'Neurometabolic disease' 'MELAS' SubClassOf 'Mitochondrial disease with peripheral neuropathy' 'MELAS' SubClassOf 'Mitochondrial disease with eye involvement' 'MELAS' SubClassOf 'Mitochondrial disease with hypertrophic cardiomyopathy' 'MELAS' SubClassOf 'Syndromic genetic deafness' 'MELAS' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' 'MELAS' SubClassOf 'Mitochondrial disease with dilated cardiomyopathy' 'MELAS' SubClassOf 'Neurometabolic disease' 'MELAS' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004675 'MELAS' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016402 'MELAS' SubClassOf 'Mitochondrial disease with peripheral neuropathy' 'MELAS' SubClassOf 'Mitochondrial disease with eye involvement' 'MELAS' SubClassOf 'Mitochondrial disease with hypertrophic cardiomyopathy' 'MELAS' SubClassOf 'Syndromic genetic deafness' 'MELAS' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' http://www.ebi.ac.uk/efo/EFO_0002221 KPL1 'KPL1' SubClassOf 'bearer_of' some 'breast carcinoma' 'KPL1' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('mammary gland' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003555 obsolete_horizontal myoseptum 'obsolete_horizontal myoseptum' SubClassOf 'obsolete class' 'obsolete_horizontal myoseptum' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004886 intracranial volume measurement 'intracranial volume measurement' SubClassOf 'is_about' some 'volume' 'intracranial volume measurement' SubClassOf 'is_about' some 'brain' 'intracranial volume measurement' SubClassOf 'is_about' some 'central nervous system' http://www.ebi.ac.uk/efo/EFO_1000951 glossitis 'glossitis' SubClassOf 'head and neck disorder' 'glossitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021166 'glossitis' SubClassOf 'has_disease_location' some ('tongue' or ('part_of' some 'tongue')) 'glossitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001165 'glossitis' SubClassOf 'head and neck disorder' http://www.ebi.ac.uk/efo/EFO_0002224 Kasumi2 'Kasumi2' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003552 obsolete_ectopterygoid 'obsolete_ectopterygoid' SubClassOf 'obsolete class' 'obsolete_ectopterygoid' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004883 obsolete_Blepharophimosis-Ptosis-Epicanthus inversus syndrome 'obsolete_Blepharophimosis-Ptosis-Epicanthus inversus syndrome' SubClassOf 'obsolete class' 'obsolete_Blepharophimosis-Ptosis-Epicanthus inversus syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002223 KYSE30 'KYSE30' SubClassOf 'bearer_of' some 'squamous cell carcinoma' 'KYSE30' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('esophagus' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003553 obsolete_entopterygoid 'obsolete_entopterygoid' SubClassOf 'obsolete class' 'obsolete_entopterygoid' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004884 breast size 'breast size' SubClassOf 'is_about' some 'mammary gland' http://www.ebi.ac.uk/efo/EFO_0002226 LS1034 'LS1034' SubClassOf 'cancer cell line' 'LS1034' SubClassOf 'bearer_of' some 'colorectal adenocarcinoma' 'LS1034' SubClassOf 'colorectal cancer cell line' 'LS1034' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('colon' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003558 obsolete_segmental intercostal artery 'obsolete_segmental intercostal artery' SubClassOf 'obsolete class' 'obsolete_segmental intercostal artery' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004889 postoperative ventricular dysfunction 'postoperative ventricular dysfunction' SubClassOf 'coronary artery disease' 'postoperative ventricular dysfunction' SubClassOf 'has_disease_location' some 'cardiovascular system' 'postoperative ventricular dysfunction' SubClassOf http://purl.obolibrary.org/obo/MONDO_0045001 'postoperative ventricular dysfunction' SubClassOf 'coronary artery disease' 'postoperative ventricular dysfunction' SubClassOf 'has_disease_location' some 'cardiac ventricle' http://www.ebi.ac.uk/efo/EFO_0002225 L428 'L428' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'L428' SubClassOf 'bearer_of' some 'Hodgkins lymphoma' http://www.ebi.ac.uk/efo/EFO_0003559 obsolete_hair cell anterior macula 'obsolete_hair cell anterior macula' SubClassOf 'obsolete class' 'obsolete_hair cell anterior macula' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002228 MC116 'MC116' SubClassOf 'bearer_of' some 'Burkitts lymphoma' 'MC116' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003556 obsolete_hyomandibula 'obsolete_hyomandibula' SubClassOf 'obsolete class' 'obsolete_hyomandibula' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004887 maximal oxygen uptake measurement 'maximal oxygen uptake measurement' SubClassOf 'is_about' some 'respiratory system' http://www.ebi.ac.uk/efo/EFO_0002227 LS174T 'LS174T' SubClassOf 'cancer cell line' 'LS174T' SubClassOf 'colorectal cancer cell line' 'LS174T' SubClassOf 'bearer_of' some 'colorectal adenocarcinoma' 'LS174T' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('colon' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003557 obsolete_interopercle 'obsolete_interopercle' SubClassOf 'obsolete class' 'obsolete_interopercle' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000958 halo nevus 'halo nevus' SubClassOf 'nevus' 'halo nevus' SubClassOf 'melanocytic nevus' 'halo nevus' SubClassOf 'nevus' 'halo nevus' SubClassOf 'has_disease_location' some ('zone of skin' or ('part_of' some 'zone of skin')) http://www.ebi.ac.uk/efo/EFO_0002229 MCCAR 'MCCAR' SubClassOf 'cancer cell line' 'MCCAR' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'MCCAR' SubClassOf 'lymphoma or leukaemia cell line' 'MCCAR' SubClassOf 'bearer_of' some 'multiple myeloma' http://www.ebi.ac.uk/efo/EFO_1000959 heart aneurysm 'heart aneurysm' SubClassOf 'heart disease' 'heart aneurysm' SubClassOf 'heart disease' http://www.ebi.ac.uk/efo/EFO_1000956 hairy cell leukemia 'hairy cell leukemia' SubClassOf 'chronic lymphocytic leukemia' 'hairy cell leukemia' SubClassOf 'chronic lymphocytic leukemia' http://www.ebi.ac.uk/efo/EFO_1000957 hairy tongue 'hairy tongue' SubClassOf 'mouth disease' 'hairy tongue' SubClassOf 'has_disease_location' some ('tongue' or ('part_of' some 'tongue')) 'hairy tongue' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001165 'hairy tongue' SubClassOf 'mouth disease' http://www.ebi.ac.uk/efo/EFO_1000954 habitual abortion 'habitual abortion' SubClassOf 'abortion' 'habitual abortion' SubClassOf 'abortion' 'habitual abortion' SubClassOf 'reproductive system disease' http://purl.obolibrary.org/obo/HP_0000098 Tall stature 'Tall stature' SubClassOf 'growth abnormality' 'Tall stature' SubClassOf 'growth abnormality' http://www.ebi.ac.uk/efo/EFO_1000955 Haemophilus influenzae meningitis 'Haemophilus influenzae meningitis' SubClassOf 'infectious meningitis' 'Haemophilus influenzae meningitis' SubClassOf 'infectious meningitis' 'Haemophilus influenzae meningitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021108 http://www.ebi.ac.uk/efo/EFO_1000952 glycogen storage disease VIII 'glycogen storage disease VIII' SubClassOf 'Glycogen storage disease' 'glycogen storage disease VIII' SubClassOf 'Glycogen storage disease' http://www.orpha.net/ORDO/Orphanet_183616 Genetic neuro-ophthalmological disease 'Genetic neuro-ophthalmological disease' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Genetic neuro-ophthalmological disease' SubClassOf 'eye disease' http://www.ebi.ac.uk/efo/EFO_1000953 gonadal tissue neoplasm 'gonadal tissue neoplasm' SubClassOf 'reproductive system neoplasm' 'gonadal tissue neoplasm' SubClassOf 'urogenital neoplasm' 'gonadal tissue neoplasm' SubClassOf 'reproductive system disease' 'gonadal tissue neoplasm' SubClassOf 'has_disease_location' some ('gonad' or ('part_of' some 'gonad')) 'gonadal tissue neoplasm' SubClassOf 'reproductive system neoplasm' http://www.orpha.net/ORDO/Orphanet_44890 Gastrointestinal stromal tumor 'Gastrointestinal stromal tumor' SubClassOf 'Genetic digestive tract tumor' 'Gastrointestinal stromal tumor' SubClassOf 'Genetic digestive tract tumor' 'Gastrointestinal stromal tumor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018506 http://purl.obolibrary.org/obo/HP_0000093 Proteinuria 'Proteinuria' EquivalentTo 'has part' some ('increased concentration' and ('inheres_in' some ('protein' and ('part_of' some 'urine'))) and ('has component' some 'abnormal')) http://www.orpha.net/ORDO/Orphanet_398173 Focal facial dermal dysplasia type II 'Focal facial dermal dysplasia type II' SubClassOf 'Focal facial dermal dysplasia' 'Focal facial dermal dysplasia type II' SubClassOf 'Focal facial dermal dysplasia type III' http://www.orpha.net/ORDO/Orphanet_183619 Genetic eye tumor 'Genetic eye tumor' SubClassOf 'eye disease' 'Genetic eye tumor' SubClassOf 'eye neoplasm' 'Genetic eye tumor' SubClassOf 'Rare genetic neurological disorder' 'Genetic eye tumor' SubClassOf 'has_disease_location' some ('eye' or ('part_of' some 'eye')) http://purl.obolibrary.org/obo/PO_0025131 plant anatomical entity 'plant anatomical entity' EquivalentTo 'plant component' http://www.orpha.net/ORDO/Orphanet_569 Familial or sporadic hemiplegic migraine 'Familial or sporadic hemiplegic migraine' SubClassOf 'Benign partial infantile seizures' 'Familial or sporadic hemiplegic migraine' SubClassOf 'Genetic central nervous system and retinal vascular disease' 'Familial or sporadic hemiplegic migraine' SubClassOf 'Benign partial infantile seizures' 'Familial or sporadic hemiplegic migraine' SubClassOf 'Genetic central nervous system and retinal vascular disease' http://www.ebi.ac.uk/efo/EFO_0003580 obsolete_rhombomere 5 'obsolete_rhombomere 5' SubClassOf 'obsolete class' 'obsolete_rhombomere 5' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_568 Microphthalmia, Lenz type 'Microphthalmia, Lenz type' SubClassOf 'Syndromic microphthalmia' 'Microphthalmia, Lenz type' SubClassOf 'Non-syndromic developmental defect of the eye' 'Microphthalmia, Lenz type' SubClassOf 'Lens shape anomaly' 'Microphthalmia, Lenz type' SubClassOf 'X-linked syndromic intellectual disability' 'Microphthalmia, Lenz type' SubClassOf 'Syndromic microphthalmia' 'Microphthalmia, Lenz type' SubClassOf 'Isolated anophthalmia - microphthalmia' 'Microphthalmia, Lenz type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007 'Microphthalmia, Lenz type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000062 'Microphthalmia, Lenz type' SubClassOf 'Lens shape anomaly' 'Microphthalmia, Lenz type' SubClassOf 'X-linked syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_567 22q11.2 deletion syndrome '22q11.2 deletion syndrome' SubClassOf 'Rare syndrome with cardiac malformations' '22q11.2 deletion syndrome' SubClassOf 'Immunodeficiency due to absence of thymus' '22q11.2 deletion syndrome' SubClassOf 'Syndromic genetic deafness' '22q11.2 deletion syndrome' SubClassOf 'Syndromic anorectal malformation' '22q11.2 deletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 22' '22q11.2 deletion syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' '22q11.2 deletion syndrome' SubClassOf 'Pierre Robin syndrome associated with a chromosomal anomaly' '22q11.2 deletion syndrome' SubClassOf 'Syndrome with hypoparathyroidism' '22q11.2 deletion syndrome' SubClassOf 'Rare syndrome with cardiac malformations' '22q11.2 deletion syndrome' SubClassOf 'Immunodeficiency due to absence of thymus' '22q11.2 deletion syndrome' SubClassOf 'Syndromic genetic deafness' '22q11.2 deletion syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 '22q11.2 deletion syndrome' SubClassOf 'Syndromic anorectal malformation' '22q11.2 deletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 22' '22q11.2 deletion syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' '22q11.2 deletion syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020016 '22q11.2 deletion syndrome' SubClassOf 'Pierre Robin syndrome associated with a chromosomal anomaly' '22q11.2 deletion syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007 '22q11.2 deletion syndrome' SubClassOf 'Genetic branchial arch or oral-acral syndrome' '22q11.2 deletion syndrome' SubClassOf 'Syndrome with hypoparathyroidism' http://www.orpha.net/ORDO/Orphanet_566 Congenital microcoria 'Congenital microcoria' SubClassOf 'Iridogoniodysgenesis' 'Congenital microcoria' SubClassOf 'Iridogoniodysgenesis' http://www.ebi.ac.uk/efo/EFO_0002251 NCI-H1355 'NCI-H1355' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003583 obsolete_somite 4 'obsolete_somite 4' SubClassOf 'obsolete class' 'obsolete_somite 4' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_565 Menkes disease 'Menkes disease' SubClassOf 'Syndromic hair shaft abnormality' 'Menkes disease' SubClassOf 'Disorder of copper metabolism' 'Menkes disease' SubClassOf 'Eyebrow/eyelashes structural anomaly' 'Menkes disease' SubClassOf 'Syndromic neurometabolic disease with X-linked intellectual disability' 'Menkes disease' SubClassOf 'Neurometabolic disease' 'Menkes disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004689 'Menkes disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016400 'Menkes disease' SubClassOf 'Syndromic hair shaft abnormality' 'Menkes disease' SubClassOf 'Disorder of copper metabolism' 'Menkes disease' SubClassOf 'Eyebrow/eyelashes structural anomaly' 'Menkes disease' SubClassOf 'Syndromic neurometabolic disease with X-linked intellectual disability' 'Menkes disease' SubClassOf 'Monogenic disease with epilepsy' http://www.ebi.ac.uk/efo/EFO_0002250 NCI-H1155 'NCI-H1155' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) 'NCI-H1155' SubClassOf 'bearer_of' some 'lung carcinoma' http://www.ebi.ac.uk/efo/EFO_0003584 obsolete_floor plate rhombomere 1 'obsolete_floor plate rhombomere 1' SubClassOf 'obsolete class' 'obsolete_floor plate rhombomere 1' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_564 Meckel syndrome 'Meckel syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Meckel syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Meckel syndrome' SubClassOf 'Rare disease with glaucoma as a major feature' 'Meckel syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Meckel syndrome' SubClassOf 'Familial cystic renal disease' 'Meckel syndrome' SubClassOf 'Genetic syndrome with a central nervous system malformation as major feature' 'Meckel syndrome' SubClassOf 'ciliopathy' 'Meckel syndrome' SubClassOf 'Cerebral disease with cataract' 'Meckel syndrome' SubClassOf 'Syndromic visceral malformation' 'Meckel syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome' 'Meckel syndrome' SubClassOf 'Lens shape anomaly' 'Meckel syndrome' SubClassOf 'Orofacial clefting syndrome' 'Meckel syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043009 'Meckel syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Meckel syndrome' SubClassOf 'Rare disease with glaucoma as a major feature' 'Meckel syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Meckel syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 'Meckel syndrome' SubClassOf 'Syndromic visceral malformation' 'Meckel syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017120 'Meckel syndrome' SubClassOf 'Lens shape anomaly' 'Meckel syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Meckel syndrome' SubClassOf 'Familial cystic renal disease' 'Meckel syndrome' SubClassOf 'Cerebral disease with cataract' 'Meckel syndrome' SubClassOf 'ciliopathy' 'Meckel syndrome' SubClassOf 'has_disease_location' some 'cilium' 'Meckel syndrome' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'Meckel syndrome' SubClassOf 'Orofacial clefting syndrome' http://www.ebi.ac.uk/efo/EFO_0002253 NCI-H1436 'NCI-H1436' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) 'NCI-H1436' SubClassOf 'bearer_of' some 'small cell lung carcinoma' http://www.ebi.ac.uk/efo/EFO_0003581 obsolete_slow muscle cell somite 14 'obsolete_slow muscle cell somite 14' SubClassOf 'obsolete class' 'obsolete_slow muscle cell somite 14' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002252 NCI-H1395 'NCI-H1395' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) 'NCI-H1395' SubClassOf 'bearer_of' some 'lung carcinoma' http://www.ebi.ac.uk/efo/EFO_0003582 obsolete_somite 12 'obsolete_somite 12' SubClassOf 'obsolete class' 'obsolete_somite 12' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_562 McCune-Albright syndrome 'McCune-Albright syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'McCune-Albright syndrome' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'McCune-Albright syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 'McCune-Albright syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017820 'McCune-Albright syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'McCune-Albright syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 'McCune-Albright syndrome' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'McCune-Albright syndrome' SubClassOf 'disease has feature' some 'Genetic hyperpigmentation of the skin' 'McCune-Albright syndrome' SubClassOf 'disease has feature' some 'Peripheral precocious puberty' 'McCune-Albright syndrome' SubClassOf 'disease has feature' some http://purl.obolibrary.org/obo/MONDO_0018561 http://www.ebi.ac.uk/efo/EFO_0002255 NCI-H1563 'NCI-H1563' SubClassOf 'bearer_of' some 'lung adenocarcinoma' 'NCI-H1563' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003587 obsolete_floor plate rhombomere 6 'obsolete_floor plate rhombomere 6' SubClassOf 'obsolete class' 'obsolete_floor plate rhombomere 6' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000961 Helicobacter pylori infectious disease 'Helicobacter pylori infectious disease' SubClassOf 'bacterial disease' 'Helicobacter pylori infectious disease' SubClassOf 'bacterial disease' 'Helicobacter pylori infectious disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021678 http://www.orpha.net/ORDO/Orphanet_171607 X-linked spastic paraplegia type 34 'X-linked spastic paraplegia type 34' SubClassOf 'X-linked pure spastic paraplegia' 'X-linked spastic paraplegia type 34' SubClassOf 'X-linked pure spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_561 Marshall-Smith syndrome 'Marshall-Smith syndrome' SubClassOf 'Overgrowth syndrome' 'Marshall-Smith syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007 'Marshall-Smith syndrome' SubClassOf 'Overgrowth syndrome' http://www.ebi.ac.uk/efo/EFO_0002254 NCI-H1437 'NCI-H1437' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) 'NCI-H1437' SubClassOf 'bearer_of' some 'lung adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0003588 obsolete_floor plate rhombomere 4 'obsolete_floor plate rhombomere 4' SubClassOf 'obsolete class' 'obsolete_floor plate rhombomere 4' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000962 hemometra 'hemometra' SubClassOf 'female reproductive system disease' 'hemometra' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002654 'hemometra' SubClassOf 'has_disease_location' some ('uterus' or ('part_of' some 'uterus')) http://www.orpha.net/ORDO/Orphanet_560 Marshall syndrome 'Marshall syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Marshall syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Marshall syndrome' SubClassOf 'Syndromic myopia' 'Marshall syndrome' SubClassOf 'Type 11 collagen-related bone disorder' 'Marshall syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Marshall syndrome' SubClassOf 'Rare disease with glaucoma as a major feature' 'Marshall syndrome' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Marshall syndrome' SubClassOf 'Rare genetic neurological disorder' 'Marshall syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Marshall syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Marshall syndrome' SubClassOf 'Syndromic myopia' 'Marshall syndrome' SubClassOf 'Type 11 collagen-related bone disorder' 'Marshall syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Marshall syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 'Marshall syndrome' SubClassOf 'Rare disease with glaucoma as a major feature' 'Marshall syndrome' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' http://www.ebi.ac.uk/efo/EFO_0002257 NCI-H1581 'NCI-H1581' SubClassOf 'bearer_of' some 'lung carcinoma' 'NCI-H1581' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003585 obsolete_floor plate neural rod 'obsolete_floor plate neural rod' SubClassOf 'obsolete class' 'obsolete_floor plate neural rod' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002256 NCI-H1573 'NCI-H1573' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) 'NCI-H1573' SubClassOf 'bearer_of' some 'lung adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0003586 obsolete_floor plate rhombomere 3 'obsolete_floor plate rhombomere 3' SubClassOf 'obsolete class' 'obsolete_floor plate rhombomere 3' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000960 heartwater disease 'heartwater disease' SubClassOf 'bacterial disease' 'heartwater disease' SubClassOf 'animal disease' 'heartwater disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016003 'heartwater disease' SubClassOf 'bacterial disease' http://www.ebi.ac.uk/efo/EFO_0002259 NCI-H1623 'NCI-H1623' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) 'NCI-H1623' SubClassOf 'bearer_of' some 'lung adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0002258 NCI-H1618 'NCI-H1618' SubClassOf 'bearer_of' some 'lung carcinoma' 'NCI-H1618' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003589 obsolete_floor plate rhombomere 7 'obsolete_floor plate rhombomere 7' SubClassOf 'obsolete class' 'obsolete_floor plate rhombomere 7' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000969 hyperamylasemia 'hyperamylasemia' SubClassOf 'hematologic disease' 'hyperamylasemia' SubClassOf 'hematologic disease' http://www.orpha.net/ORDO/Orphanet_158676 Dystrophic epidermolysis bullosa, nails only 'Dystrophic epidermolysis bullosa, nails only' SubClassOf 'Dystrophic epidermolysis bullosa' 'Dystrophic epidermolysis bullosa, nails only' SubClassOf 'Dystrophic epidermolysis bullosa' http://www.ebi.ac.uk/efo/EFO_1000967 hidrocystoma 'hidrocystoma' SubClassOf 'neoplasm' 'hidrocystoma' SubClassOf 'has_disease_location' some ('apocrine sweat gland' or ('part_of' some 'apocrine sweat gland')) 'hidrocystoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021489 'hidrocystoma' SubClassOf 'neoplasm' http://www.ebi.ac.uk/efo/EFO_1000968 hydrophthalmos 'hydrophthalmos' SubClassOf 'Congenital glaucoma' 'hydrophthalmos' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000365 'hydrophthalmos' SubClassOf 'Congenital glaucoma' http://www.ebi.ac.uk/efo/EFO_1000965 Henoch-Schoenlein purpura 'Henoch-Schoenlein purpura' SubClassOf 'immune system disease' 'Henoch-Schoenlein purpura' SubClassOf 'hypersensitivity vasculitis' 'Henoch-Schoenlein purpura' SubClassOf 'immune system disease' http://www.ebi.ac.uk/efo/EFO_1000966 hepatic vein thrombosis 'hepatic vein thrombosis' SubClassOf 'vascular disease' 'hepatic vein thrombosis' SubClassOf 'vascular disease' 'hepatic vein thrombosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002405 http://www.ebi.ac.uk/efo/EFO_1000963 hemopneumothorax 'hemopneumothorax' SubClassOf 'respiratory system disease' 'hemopneumothorax' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002076 http://www.orpha.net/ORDO/Orphanet_217454 Rare hereditary thrombophilia 'Rare hereditary thrombophilia' SubClassOf 'Rare thrombotic disorder due to a constitutional coagulation factors defect' 'Rare hereditary thrombophilia' SubClassOf 'Rare hereditary disease with avascular necrosis' 'Rare hereditary thrombophilia' SubClassOf 'Rare thrombotic disorder due to a constitutional coagulation factors defect' 'Rare hereditary thrombophilia' SubClassOf 'Rare hereditary disease with avascular necrosis' http://www.ebi.ac.uk/efo/EFO_1000964 hemorrhagic disease of newborn 'hemorrhagic disease of newborn' SubClassOf 'nutritional disorder' 'hemorrhagic disease of newborn' SubClassOf 'blood coagulation disease' 'hemorrhagic disease of newborn' SubClassOf 'nutritional disorder' http://www.orpha.net/ORDO/Orphanet_158673 Acral dystrophic epidermolysis bullosa 'Acral dystrophic epidermolysis bullosa' SubClassOf 'Dystrophic epidermolysis bullosa' 'Acral dystrophic epidermolysis bullosa' SubClassOf 'Dystrophic epidermolysis bullosa' http://www.orpha.net/ORDO/Orphanet_559 Marinesco-Sjögren syndrome 'Marinesco-Sjögren syndrome' SubClassOf 'Cerebellar ataxia with peripheral neuropathy' 'Marinesco-Sjögren syndrome' SubClassOf 'Cerebral disease with cataract' 'Marinesco-Sjögren syndrome' SubClassOf 'Syndromic epicanthus' 'Marinesco-Sjögren syndrome' SubClassOf 'Autosomal recessive degenerative and progressive cerebellar ataxia' 'Marinesco-Sjögren syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Marinesco-Sjögren syndrome' SubClassOf 'Cerebellar ataxia with peripheral neuropathy' 'Marinesco-Sjögren syndrome' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'Marinesco-Sjögren syndrome' SubClassOf 'Cerebral disease with cataract' 'Marinesco-Sjögren syndrome' SubClassOf 'Syndromic epicanthus' 'Marinesco-Sjögren syndrome' SubClassOf 'Autosomal recessive degenerative and progressive cerebellar ataxia' 'Marinesco-Sjögren syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Marinesco-Sjögren syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000941 http://www.orpha.net/ORDO/Orphanet_231742 Epibulbar lipodermoid - preauricular appendage - polythelia 'Epibulbar lipodermoid - preauricular appendage - polythelia' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Epibulbar lipodermoid - preauricular appendage - polythelia' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Epibulbar lipodermoid - preauricular appendage - polythelia' SubClassOf 'Genetic branchial arch or oral-acral syndrome' http://www.orpha.net/ORDO/Orphanet_579 Mucopolysaccharidosis type 1 'Mucopolysaccharidosis type 1' SubClassOf 'Metabolic disease with corneal opacity' 'Mucopolysaccharidosis type 1' SubClassOf 'Mucopolysaccharidosis' 'Mucopolysaccharidosis type 1' SubClassOf 'Lysosomal storage disease with skeletal involvement' 'Mucopolysaccharidosis type 1' SubClassOf 'Eyebrow hypertrophy' 'Mucopolysaccharidosis type 1' SubClassOf 'Neurometabolic disease' 'Mucopolysaccharidosis type 1' SubClassOf 'Metabolic disease with corneal opacity' 'Mucopolysaccharidosis type 1' SubClassOf 'Mucopolysaccharidosis' 'Mucopolysaccharidosis type 1' SubClassOf 'Lysosomal storage disease with skeletal involvement' 'Mucopolysaccharidosis type 1' SubClassOf 'Eyebrow hypertrophy' 'Mucopolysaccharidosis type 1' SubClassOf 'Neurometabolic disease' http://www.orpha.net/ORDO/Orphanet_171612 Autosomal dominant spastic paraplegia type 37 'Autosomal dominant spastic paraplegia type 37' SubClassOf 'Autosomal dominant pure spastic paraplegia' 'Autosomal dominant spastic paraplegia type 37' SubClassOf 'Autosomal dominant pure spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_578 Mucolipidosis type IV 'Mucolipidosis type IV' SubClassOf 'Metabolic disease with corneal opacity' 'Mucolipidosis type IV' SubClassOf 'Unclassified primitive or secondary maculopathy' 'Mucolipidosis type IV' SubClassOf 'Mucolipidosis' 'Mucolipidosis type IV' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044975 'Mucolipidosis type IV' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016397 'Mucolipidosis type IV' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Mucolipidosis type IV' SubClassOf 'Metabolic disease with corneal opacity' 'Mucolipidosis type IV' SubClassOf 'Unclassified primitive or secondary maculopathy' 'Mucolipidosis type IV' SubClassOf 'Mucolipidosis' http://www.orpha.net/ORDO/Orphanet_577 Mucolipidosis type III 'Mucolipidosis type III' SubClassOf 'Mucolipidosis' 'Mucolipidosis type III' SubClassOf 'Lysosomal storage disease with skeletal involvement' 'Mucolipidosis type III' SubClassOf 'Mucolipidosis' 'Mucolipidosis type III' SubClassOf 'Lysosomal storage disease with skeletal involvement' http://www.ebi.ac.uk/efo/EFO_0002240 obsolete_MOLT4 'obsolete_MOLT4' SubClassOf 'obsolete class' 'obsolete_MOLT4' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003572 obsolete_mesenchyme derived from head neural crest 'obsolete_mesenchyme derived from head neural crest' SubClassOf 'obsolete class' 'obsolete_mesenchyme derived from head neural crest' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003573 obsolete_neural crest diencephalon 'obsolete_neural crest diencephalon' SubClassOf 'obsolete class' 'obsolete_neural crest diencephalon' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_575 Muckle-Wells syndrome 'Muckle-Wells syndrome' SubClassOf 'Cryopyrin-associated periodic syndrome' 'Muckle-Wells syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 'Muckle-Wells syndrome' SubClassOf 'Cryopyrin-associated periodic syndrome' 'Muckle-Wells syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019724 http://www.ebi.ac.uk/efo/EFO_0002242 MV4II 'MV4II' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'MV4II' SubClassOf 'bearer_of' some 'acute myeloid leukemia' http://www.ebi.ac.uk/efo/EFO_0003570 obsolete_floor plate rhombomere 8 'obsolete_floor plate rhombomere 8' SubClassOf 'obsolete class' 'obsolete_floor plate rhombomere 8' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_574 Monosomy 21 'Monosomy 21' SubClassOf 'Total autosomal monosomy' 'Monosomy 21' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020226 'Monosomy 21' SubClassOf 'Total autosomal monosomy' http://www.ebi.ac.uk/efo/EFO_0002241 MT3 'MT3' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('mammary gland' and ('part_of' some 'Homo sapiens')))) 'MT3' SubClassOf 'bearer_of' some 'breast carcinoma' http://www.ebi.ac.uk/efo/EFO_0003571 obsolete_spinal cord interneuron 'obsolete_spinal cord interneuron' SubClassOf 'obsolete class' 'obsolete_spinal cord interneuron' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_573 Monilethrix 'Monilethrix' SubClassOf 'Isolated hair shaft abnormality' 'Monilethrix' SubClassOf 'Isolated hair shaft abnormality' 'Monilethrix' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 http://www.ebi.ac.uk/efo/EFO_0002244 NALM1 'NALM1' SubClassOf 'bearer_of' some 'chronic myelogenous leukemia' 'NALM1' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003576 obsolete_opercular lateral line neuromast 'obsolete_opercular lateral line neuromast' SubClassOf 'obsolete class' 'obsolete_opercular lateral line neuromast' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000972 hyperglobulinemic purpura 'hyperglobulinemic purpura' SubClassOf 'skin disease' 'hyperglobulinemic purpura' SubClassOf 'skin disease' 'hyperglobulinemic purpura' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002610 http://www.orpha.net/ORDO/Orphanet_572 Immunodeficiency by defective expression of HLA class 2 'Immunodeficiency by defective expression of HLA class 2' SubClassOf 'Combined T and B cell immunodeficiency' 'Immunodeficiency by defective expression of HLA class 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018814 http://www.ebi.ac.uk/efo/EFO_0002243 Malme3M 'Malme3M' SubClassOf 'bearer_of' some 'melanoma' 'Malme3M' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('zone of skin' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003577 obsolete_nucleus of the medial longitudinal fasciculus medulla oblongata 'obsolete_nucleus of the medial longitudinal fasciculus medulla oblongata' SubClassOf 'obsolete class' 'obsolete_nucleus of the medial longitudinal fasciculus medulla oblongata' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000973 hyperpituitarism 'hyperpituitarism' SubClassOf 'endocrine system disease' 'hyperpituitarism' SubClassOf 'central nervous system disease' 'hyperpituitarism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024468 'hyperpituitarism' SubClassOf 'endocrine system disease' 'hyperpituitarism' SubClassOf 'has_disease_location' some ('pituitary gland' or ('part_of' some 'pituitary gland')) http://www.orpha.net/ORDO/Orphanet_171617 Autosomal dominant spastic paraplegia type 38 'Autosomal dominant spastic paraplegia type 38' SubClassOf 'Autosomal dominant complex spastic paraplegia' 'Autosomal dominant spastic paraplegia type 38' SubClassOf 'Autosomal dominant complex spastic paraplegia' http://www.ebi.ac.uk/efo/EFO_0002246 NAMALWA 'NAMALWA' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('blood' and ('part_of' some 'Homo sapiens')))) 'NAMALWA' SubClassOf 'bearer_of' some 'Burkitts lymphoma' http://www.ebi.ac.uk/efo/EFO_0003574 obsolete_neural crest telencephalon 'obsolete_neural crest telencephalon' SubClassOf 'obsolete class' 'obsolete_neural crest telencephalon' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000970 hypercementosis 'hypercementosis' SubClassOf 'tooth disease' 'hypercementosis' SubClassOf 'tooth disease' 'hypercementosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002220 http://www.orpha.net/ORDO/Orphanet_570 Moebius syndrome 'Moebius syndrome' SubClassOf 'Syndrome with a symptomatic strabismus' 'Moebius syndrome' SubClassOf 'Nuclear oculomotor paralysis' 'Moebius syndrome' SubClassOf 'Paralytic facial malformation' 'Moebius syndrome' SubClassOf 'Cranial nerve and nuclear aplasia' 'Moebius syndrome' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Moebius syndrome' SubClassOf 'Syndrome with a symptomatic strabismus' 'Moebius syndrome' SubClassOf 'Nuclear oculomotor paralysis' 'Moebius syndrome' SubClassOf 'facial nerve disease' 'Moebius syndrome' SubClassOf 'Paralytic facial malformation' 'Moebius syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007 'Moebius syndrome' SubClassOf 'Cranial nerve and nuclear aplasia' 'Moebius syndrome' SubClassOf 'Genetic branchial arch or oral-acral syndrome' http://www.ebi.ac.uk/efo/EFO_0002245 NALM6 'NALM6' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'NALM6' SubClassOf 'bearer_of' some 'acute lymphoblastic leukemia' http://www.ebi.ac.uk/efo/EFO_0003575 obsolete_infraorbital lateral line neuromast 'obsolete_infraorbital lateral line neuromast' SubClassOf 'obsolete class' 'obsolete_infraorbital lateral line neuromast' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000971 hyperemesis gravidarum 'hyperemesis gravidarum' SubClassOf 'reproductive system disease' 'hyperemesis gravidarum' SubClassOf 'reproductive system disease' http://www.ebi.ac.uk/efo/EFO_0002248 NCI-H1048 'NCI-H1048' SubClassOf 'bearer_of' some 'acute myeloid leukemia' 'NCI-H1048' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0002247 NC37 'NC37' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'organism')))) 'NC37' SubClassOf 'bearer_of' some 'Burkitts lymphoma' http://www.ebi.ac.uk/efo/EFO_0003578 obsolete_primary neuron hindbrain 'obsolete_primary neuron hindbrain' SubClassOf 'obsolete class' 'obsolete_primary neuron hindbrain' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002249 NCI-H1092 'NCI-H1092' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) 'NCI-H1092' SubClassOf 'bearer_of' some 'small cell lung carcinoma' http://www.ebi.ac.uk/efo/EFO_0003579 obsolete_rhombomere 2 'obsolete_rhombomere 2' SubClassOf 'obsolete class' 'obsolete_rhombomere 2' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_158665 Basal epidermolysis bullosa simplex 'Basal epidermolysis bullosa simplex' SubClassOf 'Epidermolysis bullosa simplex' 'Basal epidermolysis bullosa simplex' SubClassOf 'Epidermolysis bullosa simplex' http://www.ebi.ac.uk/efo/EFO_1000978 hypervitaminosis A 'hypervitaminosis A' SubClassOf 'nutritional disorder' 'hypervitaminosis A' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003916 'hypervitaminosis A' SubClassOf 'nutritional disorder' http://www.ebi.ac.uk/efo/EFO_1000979 hypothalamic neoplasm 'hypothalamic neoplasm' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002150 'hypothalamic neoplasm' SubClassOf 'neoplasm' 'hypothalamic neoplasm' SubClassOf 'has_disease_location' some ('hypothalamus' or ('part_of' some 'hypothalamus')) http://www.orpha.net/ORDO/Orphanet_158668 Epidermolysis bullosa simplex due to plakophilin deficiency 'Epidermolysis bullosa simplex due to plakophilin deficiency' SubClassOf 'Hereditary epidermolysis bullosa associated with ocular features' 'Epidermolysis bullosa simplex due to plakophilin deficiency' SubClassOf 'Ectodermal dysplasia syndrome' 'Epidermolysis bullosa simplex due to plakophilin deficiency' SubClassOf 'Suprabasal epidermolysis bullosa simplex' 'Epidermolysis bullosa simplex due to plakophilin deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Epidermolysis bullosa simplex due to plakophilin deficiency' SubClassOf 'Hereditary epidermolysis bullosa associated with ocular features' 'Epidermolysis bullosa simplex due to plakophilin deficiency' SubClassOf 'Rare genetic neurological disorder' 'Epidermolysis bullosa simplex due to plakophilin deficiency' SubClassOf 'Ectodermal dysplasia syndrome' 'Epidermolysis bullosa simplex due to plakophilin deficiency' SubClassOf 'Suprabasal epidermolysis bullosa simplex' http://www.ebi.ac.uk/efo/EFO_1000976 hypertensive encephalopathy 'hypertensive encephalopathy' SubClassOf 'encephalomyelitis' 'hypertensive encephalopathy' SubClassOf 'intracranial hypertension' 'hypertensive encephalopathy' SubClassOf 'encephalomyelitis' 'hypertensive encephalopathy' EquivalentTo 'brain disease' and (http://purl.obolibrary.org/obo/RO_0004022 some 'hypertension') 'hypertensive encephalopathy' SubClassOf http://purl.obolibrary.org/obo/RO_0004022 some 'hypertension' http://www.ebi.ac.uk/efo/EFO_1000977 hypertensive retinopathy 'hypertensive retinopathy' SubClassOf 'retinopathy' 'hypertensive retinopathy' SubClassOf 'retinopathy' http://www.ebi.ac.uk/efo/EFO_1000974 hypersensitivity vasculitis 'hypersensitivity vasculitis' SubClassOf 'hypersensitivity reaction disease' 'hypersensitivity vasculitis' SubClassOf 'hypersensitivity reaction disease' 'hypersensitivity vasculitis' SubClassOf 'vasculitis' http://www.ebi.ac.uk/efo/EFO_1000975 hypersplenism 'hypersplenism' SubClassOf 'splenic disease' 'hypersplenism' SubClassOf 'hematologic disease' 'hypersplenism' SubClassOf 'has_disease_location' some ('spleen' or ('part_of' some 'spleen')) 'hypersplenism' SubClassOf 'splenic disease' http://www.orpha.net/ORDO/Orphanet_158661 Suprabasal epidermolysis bullosa simplex 'Suprabasal epidermolysis bullosa simplex' SubClassOf 'Epidermolysis bullosa simplex' 'Suprabasal epidermolysis bullosa simplex' SubClassOf 'Epidermolysis bullosa simplex' http://www.orpha.net/ORDO/Orphanet_156005 Primary glaucoma 'Primary glaucoma' SubClassOf 'Hereditary glaucoma' 'Primary glaucoma' SubClassOf 'Hereditary glaucoma' http://www.orpha.net/ORDO/Orphanet_398156 Oculoauriculofrontonasal syndrome 'Oculoauriculofrontonasal syndrome' SubClassOf 'Frontonasal dysplasia' 'Oculoauriculofrontonasal syndrome' SubClassOf 'Frontonasal dysplasia' http://www.orpha.net/ORDO/Orphanet_363412 Hypomyelination with brain stem and spinal cord involvement and leg spasticity 'Hypomyelination with brain stem and spinal cord involvement and leg spasticity' SubClassOf 'Leukodystrophy' 'Hypomyelination with brain stem and spinal cord involvement and leg spasticity' SubClassOf 'Leukodystrophy' http://www.ebi.ac.uk/efo/EFO_0002271 NCI-H1975 'NCI-H1975' SubClassOf 'bearer_of' some 'lung adenocarcinoma' 'NCI-H1975' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0002270 NCI-H1930 'NCI-H1930' SubClassOf 'bearer_of' some 'small cell lung carcinoma' 'NCI-H1930' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0002273 NCI-H2009 'NCI-H2009' SubClassOf 'bearer_of' some 'lung adenocarcinoma' 'NCI-H2009' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0002272 NCI-H1993 'NCI-H1993' SubClassOf 'bearer_of' some 'lung adenocarcinoma' 'NCI-H1993' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0002275 NCI-H2052 'NCI-H2052' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) 'NCI-H2052' SubClassOf 'bearer_of' some 'mesothelioma' http://www.ebi.ac.uk/efo/EFO_0002274 NCI-H2030 'NCI-H2030' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) 'NCI-H2030' SubClassOf 'bearer_of' some 'lung adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0002277 NCI-H2087 'NCI-H2087' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) 'NCI-H2087' SubClassOf 'bearer_of' some 'lung carcinoma' http://www.ebi.ac.uk/efo/EFO_0002276 NCI-H2081 'NCI-H2081' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) 'NCI-H2081' SubClassOf 'bearer_of' some 'small cell lung carcinoma' http://www.ebi.ac.uk/efo/EFO_0002279 NCI-H2122 'NCI-H2122' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) 'NCI-H2122' SubClassOf 'bearer_of' some 'lung carcinoma' http://www.ebi.ac.uk/efo/EFO_0002278 NCI-H2107 'NCI-H2107' SubClassOf 'bearer_of' some 'small cell lung carcinoma' 'NCI-H2107' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) http://www.orpha.net/ORDO/Orphanet_54247 Posterior cortical atrophy 'Posterior cortical atrophy' SubClassOf 'Genetic neurodegenerative disease' 'Posterior cortical atrophy' SubClassOf 'Genetic neurodegenerative disease' 'Posterior cortical atrophy' SubClassOf 'Genetic dementia' http://www.orpha.net/ORDO/Orphanet_363409 Fetal akinesia-cerebral and retinal hemorrhage syndrome 'Fetal akinesia-cerebral and retinal hemorrhage syndrome' SubClassOf 'Congenital myopathy' 'Fetal akinesia-cerebral and retinal hemorrhage syndrome' SubClassOf 'Congenital myopathy' 'Fetal akinesia-cerebral and retinal hemorrhage syndrome' SubClassOf 'Lethal congenital contracture syndrome' 'Fetal akinesia-cerebral and retinal hemorrhage syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 http://purl.obolibrary.org/obo/UBERON_0000411 visual cortex 'visual cortex' SubClassOf 'part_of' some 'occipital lobe' http://www.ebi.ac.uk/efo/EFO_0003590 obsolete_lateral mesenchyme derived from mesoderm 'obsolete_lateral mesenchyme derived from mesoderm' SubClassOf 'obsolete class' 'obsolete_lateral mesenchyme derived from mesoderm' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_363424 Hypotonia-cerebral atrophy-hyperglycinemia syndrome 'Hypotonia-cerebral atrophy-hyperglycinemia syndrome' SubClassOf 'Neurometabolic disease' 'Hypotonia-cerebral atrophy-hyperglycinemia syndrome' SubClassOf 'Fatal multiple mitochondrial dysfunction syndrome' 'Hypotonia-cerebral atrophy-hyperglycinemia syndrome' SubClassOf 'Fatal multiple mitochondrial dysfunction syndrome' http://purl.obolibrary.org/obo/UBERON_0001759 vagus nerve 'vagus nerve' SubClassOf http://purl.obolibrary.org/obo/UBERON_0001785 'vagus nerve' SubClassOf 'part_of' some 'gustatory system' 'vagus nerve' SubClassOf 'part_of' some 'peripheral nervous system' http://www.ebi.ac.uk/efo/EFO_0003591 obsolete_neural crest midbrain 'obsolete_neural crest midbrain' SubClassOf 'obsolete class' 'obsolete_neural crest midbrain' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002260 NCI-H1650 'NCI-H1650' SubClassOf 'bearer_of' some 'lung adenocarcinoma' 'NCI-H1650' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/UBERON_0000423 eccrine sweat gland 'apocrine sweat gland' DisjointWith 'eccrine sweat gland' 'eccrine sweat gland' SubClassOf 'part_of' some 'epidermis' 'eccrine sweat gland' SubClassOf http://purl.obolibrary.org/obo/UBERON_0010243 http://www.ebi.ac.uk/efo/EFO_0002262 NCI-H1666 'NCI-H1666' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) 'NCI-H1666' SubClassOf 'bearer_of' some 'lung adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0003594 obsolete_pectoral fin skeleton 'obsolete_pectoral fin skeleton' SubClassOf 'obsolete class' 'obsolete_pectoral fin skeleton' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002261 NCI-H1651 'NCI-H1651' SubClassOf 'bearer_of' some 'lung adenocarcinoma' 'NCI-H1651' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003595 obsolete_posterior lateral line 'obsolete_posterior lateral line' SubClassOf 'obsolete class' 'obsolete_posterior lateral line' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/UBERON_0001756 middle ear 'middle ear' SubClassOf 'part_of' some 'ear' http://www.ebi.ac.uk/efo/EFO_0002264 NCI-H1703 'NCI-H1703' SubClassOf 'bearer_of' some 'lung adenocarcinoma' 'NCI-H1703' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003592 obsolete_middle lateral line neuromast 'obsolete_middle lateral line neuromast' SubClassOf 'obsolete class' 'obsolete_middle lateral line neuromast' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002263 NCI-H1694 'NCI-H1694' SubClassOf 'bearer_of' some 'lung carcinoma' 'NCI-H1694' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003593 obsolete_posterior lateral line neuromast 'obsolete_posterior lateral line neuromast' SubClassOf 'obsolete class' 'obsolete_posterior lateral line neuromast' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002266 NCI-H1792 'NCI-H1792' SubClassOf 'bearer_of' some 'lung adenocarcinoma' 'NCI-H1792' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003598 obsolete_slow muscle cell somite 1 'obsolete_slow muscle cell somite 1' SubClassOf 'obsolete class' 'obsolete_slow muscle cell somite 1' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002265 NCI-H1770 'NCI-H1770' SubClassOf 'bearer_of' some 'lung carcinoma' 'NCI-H1770' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003599 obsolete_slow muscle cell somite 4 'obsolete_slow muscle cell somite 4' SubClassOf 'obsolete class' 'obsolete_slow muscle cell somite 4' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002268 NCI-H1838 'NCI-H1838' SubClassOf 'bearer_of' some 'lung adenocarcinoma' 'NCI-H1838' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003596 obsolete_rhombomere 3 'obsolete_rhombomere 3' SubClassOf 'obsolete class' 'obsolete_rhombomere 3' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002267 NCI-H1793 'NCI-H1793' SubClassOf 'bearer_of' some 'lung adenocarcinoma' 'NCI-H1793' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003597 obsolete_rhombomere 7 'obsolete_rhombomere 7' SubClassOf 'obsolete class' 'obsolete_rhombomere 7' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002269 NCI-H187 'NCI-H187' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) 'NCI-H187' SubClassOf 'bearer_of' some 'lung carcinoma' http://www.orpha.net/ORDO/Orphanet_376724 Generalized isolated dystonia 'Generalized isolated dystonia' SubClassOf 'Isolated dystonia' 'Generalized isolated dystonia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000476 'Generalized isolated dystonia' SubClassOf 'Isolated dystonia' 'Generalized isolated dystonia' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0000476 and 'Isolated dystonia' http://www.orpha.net/ORDO/Orphanet_289098 Disorders of vitamin D metabolism 'Disorders of vitamin D metabolism' SubClassOf 'Rare genetic parathyroid disease and phosphocalcic metabolism disorder' 'Disorders of vitamin D metabolism' SubClassOf 'Primary bone dysplasia with defective bone mineralization' 'Disorders of vitamin D metabolism' SubClassOf 'participates_in' some ('vitamin metabolic process' and ('has component' some 'abnormal')) 'Disorders of vitamin D metabolism' SubClassOf 'Rare genetic parathyroid disease and phosphocalcic metabolism disorder' 'Disorders of vitamin D metabolism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019061 'Disorders of vitamin D metabolism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 'Disorders of vitamin D metabolism' SubClassOf 'Primary bone dysplasia with defective bone mineralization' http://www.orpha.net/ORDO/Orphanet_363417 Temtamy preaxial brachydactyly syndrome 'Temtamy preaxial brachydactyly syndrome' SubClassOf 'Congenital disorder of glycosylation with deafness as a major feature' 'Temtamy preaxial brachydactyly syndrome' SubClassOf 'Congenital disorder of glycosylation-related bone disorder' 'Temtamy preaxial brachydactyly syndrome' SubClassOf 'Disorder of O-xylosylglycan synthesis' 'Temtamy preaxial brachydactyly syndrome' SubClassOf 'Syndrome with brachydactyly' 'Temtamy preaxial brachydactyly syndrome' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'Temtamy preaxial brachydactyly syndrome' SubClassOf 'Congenital disorder of glycosylation-related bone disorder' 'Temtamy preaxial brachydactyly syndrome' SubClassOf 'Congenital disorder of glycosylation with deafness as a major feature' 'Temtamy preaxial brachydactyly syndrome' SubClassOf 'autosomal recessive disease' 'Temtamy preaxial brachydactyly syndrome' SubClassOf 'Disorder of O-xylosylglycan synthesis' 'Temtamy preaxial brachydactyly syndrome' SubClassOf 'Syndrome with brachydactyly' 'Temtamy preaxial brachydactyly syndrome' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'Temtamy preaxial brachydactyly syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' http://purl.obolibrary.org/obo/UBERON_0001769 iris 'iris' SubClassOf 'part_of' some 'head' 'iris' SubClassOf 'develops_from' some 'ectoderm' 'iris' SubClassOf 'part_of' some 'eye' 'iris' SubClassOf 'develops_from' some 'primordium' 'iris' SubClassOf 'develops_from' some 'presumptive neural plate' http://www.ebi.ac.uk/efo/EFO_0002291 NCI-H358 'NCI-H358' SubClassOf 'bearer_of' some 'lung carcinoma' 'NCI-H358' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0002290 obsolete_NCI-H322 'obsolete_NCI-H322' SubClassOf 'obsolete class' 'obsolete_NCI-H322' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002293 NCI-H446 'NCI-H446' SubClassOf 'bearer_of' some 'lung carcinoma' 'NCI-H446' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0002292 NCI-H441 'NCI-H441' SubClassOf 'bearer_of' some 'lung adenocarcinoma' 'NCI-H441' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0002295 NCI-H522 'NCI-H522' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) 'NCI-H522' SubClassOf 'bearer_of' some 'lung carcinoma' http://www.ebi.ac.uk/efo/EFO_0002294 NCI-H508 'NCI-H508' SubClassOf 'cancer cell line' 'NCI-H508' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('colon' and ('part_of' some 'Homo sapiens')))) 'NCI-H508' SubClassOf 'colorectal cancer cell line' 'NCI-H508' SubClassOf 'bearer_of' some 'colorectal adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0002297 NCI-H630 'NCI-H630' SubClassOf 'cancer cell line' 'NCI-H630' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('rectum' and ('part_of' some 'Homo sapiens')))) 'NCI-H630' SubClassOf 'colorectal cancer cell line' 'NCI-H630' SubClassOf 'bearer_of' some 'colorectal adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0002296 NCI-H524 'NCI-H524' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) 'NCI-H524' SubClassOf 'bearer_of' some 'small cell lung carcinoma' http://www.orpha.net/ORDO/Orphanet_363432 Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency 'Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency' SubClassOf 'Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome' 'Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency' SubClassOf 'Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome' http://www.ebi.ac.uk/efo/EFO_0002299 NCI-H661 'NCI-H661' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) 'NCI-H661' SubClassOf 'derives_from' some 'lung carcinoma' http://www.ebi.ac.uk/efo/EFO_0002298 NCI-H650 'NCI-H650' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) 'NCI-H650' SubClassOf 'bearer_of' some 'lung carcinoma' http://www.orpha.net/ORDO/Orphanet_363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome 'Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome' SubClassOf 'Disorder of amino acid absorption and transport' 'Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome' SubClassOf 'Autosomal recessive metabolic cerebellar ataxia' 'Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome' SubClassOf 'Disorder of amino acid absorption and transport' 'Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome' SubClassOf 'Developmental anomaly of metabolic origin' 'Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome' SubClassOf 'Autosomal recessive metabolic cerebellar ataxia' 'Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome' SubClassOf 'Metabolic disease with dementia' http://www.ebi.ac.uk/efo/EFO_0002280 NCI-H2126 'NCI-H2126' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) 'NCI-H2126' SubClassOf 'bearer_of' some 'lung adenocarcinoma' http://purl.obolibrary.org/obo/UBERON_0000446 septum of telencephalon 'septum of telencephalon' SubClassOf 'part_of' some 'telencephalon' http://www.ebi.ac.uk/efo/EFO_0002282 NCI-H2171 'NCI-H2171' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) 'NCI-H2171' SubClassOf 'bearer_of' some 'lung carcinoma' http://www.ebi.ac.uk/efo/EFO_0002281 NCI-H2170 'NCI-H2170' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) 'NCI-H2170' SubClassOf 'bearer_of' some 'lung carcinoma' http://www.orpha.net/ORDO/Orphanet_363447 Autosomal dominant childhood-onset proximal spinal muscular atrophy 'Autosomal dominant childhood-onset proximal spinal muscular atrophy' SubClassOf 'Autosomal dominant proximal spinal muscular atrophy' 'Autosomal dominant childhood-onset proximal spinal muscular atrophy' SubClassOf 'Autosomal dominant proximal spinal muscular atrophy' http://www.ebi.ac.uk/efo/EFO_0002284 NCI-H2228 'NCI-H2228' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) 'NCI-H2228' SubClassOf 'bearer_of' some 'lung adenocarcinoma' http://purl.obolibrary.org/obo/UBERON_0001777 substantia propria of cornea 'substantia propria of cornea' SubClassOf 'cornea' 'substantia propria of cornea' SubClassOf 'cornea' http://www.ebi.ac.uk/efo/EFO_0002283 NCI-H2195 'NCI-H2195' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) 'NCI-H2195' SubClassOf 'bearer_of' some 'lung carcinoma' http://www.ebi.ac.uk/efo/EFO_0002286 NCI-H23 'NCI-H23' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) 'NCI-H23' SubClassOf 'bearer_of' some 'lung carcinoma' http://www.ebi.ac.uk/efo/EFO_0002285 NCI-H226 'NCI-H226' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) 'NCI-H226' SubClassOf 'bearer_of' some 'lung carcinoma' http://www.ebi.ac.uk/efo/EFO_0002288 NCI-H2405 'NCI-H2405' SubClassOf 'bearer_of' some 'lung adenocarcinoma' 'NCI-H2405' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0002287 NCI-H2347 'NCI-H2347' SubClassOf 'bearer_of' some 'lung adenocarcinoma' 'NCI-H2347' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0002289 NCI-H295R 'NCI-H295R' SubClassOf 'bearer_of' some 'carcinoma' 'NCI-H295R' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('brain' and ('part_of' some 'Homo sapiens')))) http://www.orpha.net/ORDO/Orphanet_79507 Hypotonia - failure to thrive - microcephaly 'Hypotonia - failure to thrive - microcephaly' SubClassOf 'Other metabolic disease' 'Hypotonia - failure to thrive - microcephaly' SubClassOf 'Other metabolic disease' http://www.orpha.net/ORDO/Orphanet_79506 Cholesterol-ester transfer protein deficiency 'Cholesterol-ester transfer protein deficiency' SubClassOf 'Hyperalphalipoproteinemia' 'Cholesterol-ester transfer protein deficiency' SubClassOf 'Hyperalphalipoproteinemia' http://purl.obolibrary.org/obo/UBERON_0001772 corneal epithelium 'corneal epithelium' SubClassOf 'animal component' 'corneal epithelium' SubClassOf 'part_of' some 'cornea' 'corneal epithelium' SubClassOf http://purl.obolibrary.org/obo/UBERON_0015808 http://purl.obolibrary.org/obo/UBERON_0001774 trunk musculature 'trunk musculature' SubClassOf 'skeletal muscle organ' http://purl.obolibrary.org/obo/UBERON_0001705 nail 'nail' SubClassOf 'part_of' some 'digit' 'nail' SubClassOf 'part_of' some 'epidermis' 'nail' SubClassOf 'part_of' some 'skin of body' http://purl.obolibrary.org/obo/UBERON_0001700 geniculate ganglion 'geniculate ganglion' SubClassOf 'cranial ganglion' 'geniculate ganglion' SubClassOf 'develops_from' some 'mesencephalic neural crest' 'geniculate ganglion' SubClassOf 'develops_from' some 'otic placode' 'geniculate ganglion' SubClassOf 'cranial ganglion' 'geniculate ganglion' SubClassOf http://purl.obolibrary.org/obo/UBERON_0009127 'geniculate ganglion' SubClassOf 'develops_from' some 'cranial ganglion' 'geniculate ganglion' SubClassOf http://purl.obolibrary.org/obo/UBERON_0001800 'geniculate ganglion' SubClassOf 'develops_from' some 'epibranchial placode' 'geniculate ganglion' SubClassOf 'develops_from' some 'mesenchyme derived from head neural crest' http://www.orpha.net/ORDO/Orphanet_363454 Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures 'Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures' SubClassOf 'Autosomal dominant childhood-onset proximal spinal muscular atrophy' 'Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures' SubClassOf 'Autosomal dominant childhood-onset proximal spinal muscular atrophy' http://purl.obolibrary.org/obo/CHEBI_53115 8-(3-chlorostyryl) caffeine '8-(3-chlorostyryl) caffeine' SubClassOf 'has_role' some 'drug role' http://purl.obolibrary.org/obo/UBERON_0001707 nasal cavity 'nasal cavity' SubClassOf 'develops_from' some 'olfactory pit' 'nasal cavity' SubClassOf 'part_of' some 'respiratory system' http://purl.obolibrary.org/obo/UBERON_0001714 cranial ganglion 'cranial ganglion' SubClassOf 'part_of' some 'peripheral nervous system' 'cranial ganglion' SubClassOf 'part_of' some 'head' http://purl.obolibrary.org/obo/UBERON_0001715 oculomotor nuclear complex 'oculomotor nuclear complex' SubClassOf 'develops_from' some 'midbrain basal plate' 'oculomotor nuclear complex' SubClassOf 'part_of' some 'midbrain' 'oculomotor nuclear complex' SubClassOf 'part_of' some 'brainstem' http://www.orpha.net/ORDO/Orphanet_206701 Bulbospinal muscular atrophy 'Bulbospinal muscular atrophy' SubClassOf 'spinal muscular atrophy' http://purl.obolibrary.org/obo/UBERON_0001711 eyelid 'eyelid' SubClassOf 'part_of' some 'eye' http://www.orpha.net/ORDO/Orphanet_206707 Bulbospinal muscular atrophy of adult 'Bulbospinal muscular atrophy of adult' SubClassOf 'Bulbospinal muscular atrophy' 'Bulbospinal muscular atrophy of adult' SubClassOf 'Proximal spinal muscular atrophy type 4' 'Bulbospinal muscular atrophy of adult' SubClassOf 'Bulbospinal muscular atrophy' http://www.orpha.net/ORDO/Orphanet_206704 Bulbospinal muscular atrophy of children 'Bulbospinal muscular atrophy of children' SubClassOf 'Bulbospinal muscular atrophy' 'Bulbospinal muscular atrophy of children' SubClassOf 'Proximal spinal muscular atrophy type 3' 'Bulbospinal muscular atrophy of children' SubClassOf 'Bulbospinal muscular atrophy' http://purl.obolibrary.org/obo/CHEBI_53110 4,5-dianilinophthalimide '4,5-dianilinophthalimide' SubClassOf 'has_role' some 'insecticide' http://www.orpha.net/ORDO/Orphanet_206710 Generalized bulbospinal muscular atrophy 'Generalized bulbospinal muscular atrophy' SubClassOf 'Bulbospinal muscular atrophy' 'Generalized bulbospinal muscular atrophy' SubClassOf 'Bulbospinal muscular atrophy' http://purl.obolibrary.org/obo/CHEBI_16199 urea 'urea' SubClassOf 'chemical entity' 'urea' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/UBERON_0001728 nasopharynx 'nasopharynx' SubClassOf 'part_of' some 'respiratory system' 'nasopharynx' SubClassOf 'part_of' some 'chordate pharynx' http://purl.obolibrary.org/obo/UBERON_0001723 tongue 'tongue' SubClassOf 'develops_from' some 'embryonic structure' 'tongue' SubClassOf 'part_of' some 'sensory system' 'tongue' SubClassOf 'part_of' some 'mouth' 'tongue' SubClassOf 'part_of' some 'gustatory system' http://purl.obolibrary.org/obo/UBERON_0001729 oropharynx 'oropharynx' SubClassOf 'part_of' some 'chordate pharynx' 'oropharynx' SubClassOf 'develops_from' some 'pharyngeal pouch 2' 'oropharynx' SubClassOf 'part_of' some 'digestive system' http://www.orpha.net/ORDO/Orphanet_55596 Autosomal dominant limb-girdle muscular dystrophy type 1G 'Autosomal dominant limb-girdle muscular dystrophy type 1G' SubClassOf 'Autosomal dominant limb-girdle muscular dystrophy' 'Autosomal dominant limb-girdle muscular dystrophy type 1G' SubClassOf 'Autosomal dominant limb-girdle muscular dystrophy' http://www.orpha.net/ORDO/Orphanet_55595 Autosomal dominant limb-girdle muscular dystrophy type 1F 'Autosomal dominant limb-girdle muscular dystrophy type 1F' SubClassOf 'Autosomal dominant limb-girdle muscular dystrophy' 'Autosomal dominant limb-girdle muscular dystrophy type 1F' SubClassOf 'Autosomal dominant limb-girdle muscular dystrophy' http://www.orpha.net/ORDO/Orphanet_54260 Left ventricular noncompaction 'Left ventricular noncompaction' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Left ventricular noncompaction' SubClassOf 'congenital heart disease' 'Left ventricular noncompaction' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018797 'Left ventricular noncompaction' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000591 'Left ventricular noncompaction' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016343 http://purl.obolibrary.org/obo/UBERON_0001736 submandibular gland 'submandibular gland' SubClassOf 'gland' 'submandibular gland' SubClassOf 'part_of' some 'mouth' 'submandibular gland' SubClassOf 'part_of' some 'digestive system' 'submandibular gland' SubClassOf 'develops_from' some 'saliva-secreting gland' 'submandibular gland' SubClassOf http://purl.obolibrary.org/obo/UBERON_0001829 'submandibular gland' SubClassOf 'develops_from' some 'primordium' http://purl.obolibrary.org/obo/UBERON_0001737 larynx 'larynx' SubClassOf 'develops_from' some 'primordium' 'larynx' SubClassOf 'develops_from' some 'digestive system' 'larynx' SubClassOf 'part_of' some 'respiratory system' 'larynx' SubClassOf 'develops_from' some 'endoderm' http://purl.obolibrary.org/obo/CHEBI_16189 sulfate 'sulfate' SubClassOf 'chemical entity' 'sulfate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/UBERON_0001732 pharyngeal tonsil 'pharyngeal tonsil' SubClassOf http://purl.obolibrary.org/obo/UBERON_0012330 http://purl.obolibrary.org/obo/UBERON_0001734 uvula 'uvula' SubClassOf 'develops_from' some 'pharyngeal arch' 'uvula' SubClassOf 'part_of' some 'digestive system' 'uvula' SubClassOf 'part_of' some 'mouth' 'uvula' SubClassOf 'develops_from' some 'mouth' 'uvula' SubClassOf 'develops_from' some 'skeleton' http://www.orpha.net/ORDO/Orphanet_1702 Non-distal trisomy 13q 'Non-distal trisomy 13q' SubClassOf 'Partial duplication of the long arm of chromosome 13' 'Non-distal trisomy 13q' SubClassOf 'Partial duplication of the long arm of chromosome 13' http://www.orpha.net/ORDO/Orphanet_276161 Multiple endocrine neoplasia 'Multiple endocrine neoplasia' SubClassOf 'Multiple polyglandular tumor' 'Multiple endocrine neoplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021635 'Multiple endocrine neoplasia' SubClassOf 'Inherited cancer-predisposing syndrome' 'Multiple endocrine neoplasia' SubClassOf 'Multiple polyglandular tumor' http://www.orpha.net/ORDO/Orphanet_325665 Genetic disorder of sex development of gynecological interest 'Genetic disorder of sex development of gynecological interest' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019937 http://www.orpha.net/ORDO/Orphanet_289483 Intellectual disability - alacrima - achalasia 'Intellectual disability - alacrima - achalasia' SubClassOf 'Congenital alacrima' 'Intellectual disability - alacrima - achalasia' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Intellectual disability - alacrima - achalasia' SubClassOf 'Congenital alacrima' 'Intellectual disability - alacrima - achalasia' SubClassOf 'X-linked syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_93218 Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis 'Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis' SubClassOf 'Sporadic idiopathic steroid-resistant nephrotic syndrome' 'Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis' SubClassOf 'Sporadic idiopathic steroid-resistant nephrotic syndrome' http://www.orpha.net/ORDO/Orphanet_93217 Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis 'Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis' SubClassOf 'Familial idiopathic steroid-resistant nephrotic syndrome' 'Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis' SubClassOf 'Familial idiopathic steroid-resistant nephrotic syndrome' http://www.orpha.net/ORDO/Orphanet_93216 Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes 'Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes' SubClassOf 'Familial idiopathic steroid-resistant nephrotic syndrome' 'Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes' SubClassOf 'Familial idiopathic steroid-resistant nephrotic syndrome' http://www.orpha.net/ORDO/Orphanet_93214 Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation 'Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation' SubClassOf 'Familial idiopathic steroid-resistant nephrotic syndrome' 'Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation' SubClassOf 'Familial idiopathic steroid-resistant nephrotic syndrome' http://purl.obolibrary.org/obo/CLO_0017021 GM17740 'GM17740' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17740' SubClassOf 'cultured cell' 'GM17740' SubClassOf 'has_quality' some 'female' http://purl.obolibrary.org/obo/CLO_0017020 GM17741 'GM17741' SubClassOf 'cultured cell' 'GM17741' SubClassOf 'has_quality' some 'female' 'GM17741' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/CLO_0017023 GM17738 'GM17738' SubClassOf 'cultured cell' 'GM17738' SubClassOf 'has_quality' some 'female' 'GM17738' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/CLO_0017022 GM17739 'GM17739' SubClassOf 'has_quality' some 'female' 'GM17739' SubClassOf 'cultured cell' 'GM17739' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://www.orpha.net/ORDO/Orphanet_1711 Mosaic trisomy 17 'Mosaic trisomy 17' SubClassOf 'Total autosomal trisomy' 'Mosaic trisomy 17' SubClassOf 'Total autosomal trisomy' http://purl.obolibrary.org/obo/CLO_0017025 GM17742 'GM17742' SubClassOf 'cultured cell' 'GM17742' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17742' SubClassOf 'has_quality' some 'male' http://www.orpha.net/ORDO/Orphanet_276152 Multiple endocrine neoplasia type 4 'Multiple endocrine neoplasia type 4' SubClassOf 'Multiple polyglandular tumor' 'Multiple endocrine neoplasia type 4' SubClassOf 'Multiple endocrine neoplasia' 'Multiple endocrine neoplasia type 4' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 http://purl.obolibrary.org/obo/CLO_0017024 GM17743 'GM17743' SubClassOf 'cultured cell' 'GM17743' SubClassOf 'has_quality' some 'male' 'GM17743' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://www.orpha.net/ORDO/Orphanet_324321 Sinoatrial node dysfunction and deafness 'Sinoatrial node dysfunction and deafness' SubClassOf 'Genetic cardiac rhythm disease' 'Sinoatrial node dysfunction and deafness' SubClassOf 'Syndromic genetic deafness' 'Sinoatrial node dysfunction and deafness' SubClassOf 'Genetic cardiac rhythm disease' 'Sinoatrial node dysfunction and deafness' SubClassOf 'Syndromic genetic deafness' 'Sinoatrial node dysfunction and deafness' SubClassOf 'disease has feature' some http://purl.obolibrary.org/obo/MONDO_0000469 http://www.orpha.net/ORDO/Orphanet_1707 Distal trisomy 15q 'Distal trisomy 15q' SubClassOf '15q overgrowth syndrome' 'Distal trisomy 15q' SubClassOf '15q overgrowth syndrome' http://www.orpha.net/ORDO/Orphanet_1708 Mosaic trisomy 16 'Mosaic trisomy 16' SubClassOf 'Total autosomal trisomy' 'Mosaic trisomy 16' SubClassOf 'Total autosomal trisomy' http://www.orpha.net/ORDO/Orphanet_289494 Hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism 'Hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism' SubClassOf 'Leukodystrophy' 'Hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism' SubClassOf 'Leukodystrophy' http://www.orpha.net/ORDO/Orphanet_1705 Distal trisomy 14q 'Distal trisomy 14q' SubClassOf 'Syndromic developmental defect of the eye' 'Distal trisomy 14q' SubClassOf 'Partial duplication of the long arm of chromosome 14' 'Distal trisomy 14q' SubClassOf 'Syndromic epicanthus' 'Distal trisomy 14q' SubClassOf 'Syndromic developmental defect of the eye' 'Distal trisomy 14q' SubClassOf 'Partial duplication of the long arm of chromosome 14' 'Distal trisomy 14q' SubClassOf 'Syndromic epicanthus' http://www.orpha.net/ORDO/Orphanet_300373 Familial infantile gigantism 'Familial infantile gigantism' SubClassOf 'Rare genetic hypothalamic or pituitary disease' 'Familial infantile gigantism' SubClassOf 'Rare genetic hypothalamic or pituitary disease' 'Familial infantile gigantism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015889 http://www.orpha.net/ORDO/Orphanet_1706 Mosaic trisomy 15 'Mosaic trisomy 15' SubClassOf 'Total autosomal trisomy' 'Mosaic trisomy 15' SubClassOf 'Total autosomal trisomy' http://www.orpha.net/ORDO/Orphanet_1703 Mosaic trisomy 14 'Mosaic trisomy 14' SubClassOf 'Total autosomal trisomy' 'Mosaic trisomy 14' SubClassOf 'Total autosomal trisomy' http://www.orpha.net/ORDO/Orphanet_93222 Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation 'Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation' SubClassOf 'Sporadic idiopathic steroid-resistant nephrotic syndrome' 'Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation' SubClassOf 'Sporadic idiopathic steroid-resistant nephrotic syndrome' http://www.orpha.net/ORDO/Orphanet_93221 Sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes 'Sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes' SubClassOf 'Sporadic idiopathic steroid-resistant nephrotic syndrome' 'Sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes' SubClassOf 'Sporadic idiopathic steroid-resistant nephrotic syndrome' http://www.orpha.net/ORDO/Orphanet_93220 Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis 'Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis' SubClassOf 'Sporadic idiopathic steroid-resistant nephrotic syndrome' 'Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis' SubClassOf 'Sporadic idiopathic steroid-resistant nephrotic syndrome' http://www.orpha.net/ORDO/Orphanet_289499 Congenital cataract microcornea with corneal opacity 'Congenital cataract microcornea with corneal opacity' SubClassOf 'Syndromic cataract' 'Congenital cataract microcornea with corneal opacity' SubClassOf 'Isolated congenital sclerocornea' 'Congenital cataract microcornea with corneal opacity' SubClassOf 'Syndromic developmental defect of the eye' 'Congenital cataract microcornea with corneal opacity' SubClassOf 'Syndromic cataract' 'Congenital cataract microcornea with corneal opacity' SubClassOf 'Familial ocular anterior segment mesenchymal dysgenesis' http://purl.obolibrary.org/obo/CHEBI_18211 citrulline 'citrulline' SubClassOf 'amino acid' 'citrulline' SubClassOf 'amino acid' http://purl.obolibrary.org/obo/HP_0012444 Brain atrophy 'Brain atrophy' SubClassOf 'abnormality of brain morphology' 'Brain atrophy' SubClassOf 'abnormality of brain morphology' http://purl.obolibrary.org/obo/HP_0012443 abnormality of brain morphology 'abnormality of brain morphology' SubClassOf 'abnormality of the nervous system' 'abnormality of brain morphology' SubClassOf 'abnormality of the nervous system' http://www.orpha.net/ORDO/Orphanet_1723 Mosaic trisomy 2 'Mosaic trisomy 2' SubClassOf 'Total autosomal trisomy' 'Mosaic trisomy 2' SubClassOf 'Total autosomal trisomy' http://www.orpha.net/ORDO/Orphanet_1724 Mosaic trisomy 20 'Mosaic trisomy 20' SubClassOf 'Total autosomal trisomy' 'Mosaic trisomy 20' SubClassOf 'Total autosomal trisomy' http://www.orpha.net/ORDO/Orphanet_324313 9p13 microdeletion syndrome '9p13 microdeletion syndrome' SubClassOf 'Partial deletion of the short arm of chromosome 9' '9p13 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 '9p13 microdeletion syndrome' SubClassOf 'Partial deletion of the short arm of chromosome 9' '9p13 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 http://purl.obolibrary.org/obo/HP_0001798 Anonychia 'Anonychia' SubClassOf 'abnormality of the integument' 'Anonychia' SubClassOf 'abnormality of the integument' http://www.orpha.net/ORDO/Orphanet_1716 Distal trisomy 18q 'Distal trisomy 18q' SubClassOf 'Partial trisomy of the long arm of chromosome 18' 'Distal trisomy 18q' SubClassOf 'Partial trisomy of the long arm of chromosome 18' http://www.orpha.net/ORDO/Orphanet_1717 Distal trisomy 19q 'Distal trisomy 19q' SubClassOf 'Partial duplication of the long arm of chromosome 19' 'Distal trisomy 19q' SubClassOf 'Partial duplication of the long arm of chromosome 19' http://purl.obolibrary.org/obo/HP_0000463 Anteverted nares 'Anteverted nares' SubClassOf 'abnormality of the nose' 'Anteverted nares' SubClassOf 'abnormality of the nose' http://www.orpha.net/ORDO/Orphanet_1715 Trisomy 18p 'Trisomy 18p' SubClassOf 'Partial trisomy/tetrasomy of the short arm of chromosome 18' 'Trisomy 18p' SubClassOf 'Partial trisomy/tetrasomy of the short arm of chromosome 18' http://www.orpha.net/ORDO/Orphanet_300345 Autosomal recessive systemic lupus erythematosus 'Autosomal recessive systemic lupus erythematosus' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'Autosomal recessive systemic lupus erythematosus' SubClassOf 'systemic lupus erythematosus' 'Autosomal recessive systemic lupus erythematosus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015939 'Autosomal recessive systemic lupus erythematosus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018782 'Autosomal recessive systemic lupus erythematosus' EquivalentTo 'systemic lupus erythematosus' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) http://www.orpha.net/ORDO/Orphanet_363965 Koolen-De Vries syndrome due to a point mutation 'Koolen-De Vries syndrome due to a point mutation' SubClassOf 'Koolen-De Vries syndrome' 'Koolen-De Vries syndrome due to a point mutation' SubClassOf 'Koolen-De Vries syndrome' http://www.orpha.net/ORDO/Orphanet_314993 Cataract-congenital heart disease-neural tube defect syndrome 'Cataract-congenital heart disease-neural tube defect syndrome' SubClassOf 'Syndromic cataract' 'Cataract-congenital heart disease-neural tube defect syndrome' SubClassOf 'Genetic syndrome with a central nervous system malformation as major feature' 'Cataract-congenital heart disease-neural tube defect syndrome' SubClassOf 'Syndromic cataract' 'Cataract-congenital heart disease-neural tube defect syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017120 http://www.orpha.net/ORDO/Orphanet_71862 Retinal dystrophy 'Retinal dystrophy' SubClassOf 'Genetic vitreous-retinal disease' 'Retinal dystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004580 'Retinal dystrophy' SubClassOf 'Genetic vitreous-retinal disease' 'Retinal dystrophy' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0004580 and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) http://www.orpha.net/ORDO/Orphanet_325632 46,XY disorder of sex development of gynecological interest '46,XY disorder of sex development of gynecological interest' SubClassOf 'Genetic disorder of sex development of gynecological interest' '46,XY disorder of sex development of gynecological interest' SubClassOf 'Genetic disorder of sex development of gynecological interest' http://purl.obolibrary.org/obo/HP_0000478 Abnormality of the eye 'Abnormality of the eye' EquivalentTo 'has part' some ('quality' and ('inheres_in' some 'eyeball of camera-type eye') and ('has component' some 'abnormal')) http://www.orpha.net/ORDO/Orphanet_1727 22q11.2 microduplication syndrome '22q11.2 microduplication syndrome' SubClassOf 'Partial duplication of the long arm of chromosome 22' '22q11.2 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000762 '22q11.2 microduplication syndrome' SubClassOf 'Partial duplication of the long arm of chromosome 22' http://www.orpha.net/ORDO/Orphanet_324307 Severe lateral tibial bowing with short stature 'Severe lateral tibial bowing with short stature' SubClassOf 'Bent bone dysplasia' 'Severe lateral tibial bowing with short stature' SubClassOf 'Bent bone dysplasia' http://purl.obolibrary.org/obo/CHEBI_6015 isoflurane 'isoflurane' SubClassOf 'has_role' some 'inhalation anaesthetic' http://purl.obolibrary.org/obo/HP_0012448 Delayed myelination 'Delayed myelination' SubClassOf 'abnormality of the nervous system' 'Delayed myelination' SubClassOf 'abnormality of the nervous system' http://www.orpha.net/ORDO/Orphanet_325638 Syndrome with disorder of sex development of gynecological interest 'Syndrome with disorder of sex development of gynecological interest' SubClassOf 'Genetic disorder of sex development of gynecological interest' 'Syndrome with disorder of sex development of gynecological interest' SubClassOf 'Genetic disorder of sex development of gynecological interest' http://www.orpha.net/ORDO/Orphanet_300359 PLCG2-associated antibody deficiency and immune dysregulation 'PLCG2-associated antibody deficiency and immune dysregulation' SubClassOf 'cold urticaria' 'PLCG2-associated antibody deficiency and immune dysregulation' SubClassOf 'has_disease_location' some ('zone of skin' or ('part_of' some 'zone of skin')) 'PLCG2-associated antibody deficiency and immune dysregulation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 'PLCG2-associated antibody deficiency and immune dysregulation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017956 'PLCG2-associated antibody deficiency and immune dysregulation' SubClassOf 'cold urticaria' http://www.orpha.net/ORDO/Orphanet_363958 17q21.31 microdeletion syndrome '17q21.31 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 17' '17q21.31 microdeletion syndrome' SubClassOf 'Koolen-De Vries syndrome' '17q21.31 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 17' '17q21.31 microdeletion syndrome' SubClassOf 'Koolen-De Vries syndrome' http://www.orpha.net/ORDO/Orphanet_363972 Noonan syndrome-like disorder with juvenile myelomonocytic leukemia 'Noonan syndrome-like disorder with juvenile myelomonocytic leukemia' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Noonan syndrome-like disorder with juvenile myelomonocytic leukemia' SubClassOf 'Noonan syndrome and Noonan-related syndrome' 'Noonan syndrome-like disorder with juvenile myelomonocytic leukemia' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Noonan syndrome-like disorder with juvenile myelomonocytic leukemia' SubClassOf 'Noonan syndrome and Noonan-related syndrome' http://purl.obolibrary.org/obo/NCBITaxon_5506 Fusarium 'Fusarium' SubClassOf 'Ascomycota' 'Fusarium' SubClassOf 'Ascomycota' http://purl.obolibrary.org/obo/CHEBI_70811 N-(indol-3-ylacetyl)glutamine 'N-(indol-3-ylacetyl)glutamine' SubClassOf 'chemical entity' 'N-(indol-3-ylacetyl)glutamine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/HP_0000400 Macrotia 'Macrotia' SubClassOf 'Abnormality of the pinna' 'Macrotia' SubClassOf 'Abnormality of the pinna' http://www.orpha.net/ORDO/Orphanet_363969 Autosomal recessive cerebral atrophy 'Autosomal recessive cerebral atrophy' SubClassOf 'Genetic neurodegenerative disease' 'Autosomal recessive cerebral atrophy' SubClassOf 'autosomal recessive disease' 'Autosomal recessive cerebral atrophy' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_363981 Charcot-Marie-Tooth disease type 4B3 'Charcot-Marie-Tooth disease type 4B3' SubClassOf 'Charcot-Marie-Tooth disease type 4' 'Charcot-Marie-Tooth disease type 4B3' SubClassOf 'Charcot-Marie-Tooth disease type 4' http://www.orpha.net/ORDO/Orphanet_276193 Spinocerebellar ataxia type 35 'Spinocerebellar ataxia type 35' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' 'Spinocerebellar ataxia type 35' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' http://purl.obolibrary.org/obo/HP_0000408 Progressive sensorineural hearing impairment 'Progressive sensorineural hearing impairment' SubClassOf 'Sensorineural hearing impairment' 'Progressive sensorineural hearing impairment' SubClassOf 'Sensorineural hearing impairment' http://www.orpha.net/ORDO/Orphanet_314978 X-linked non progressive cerebellar ataxia 'X-linked non progressive cerebellar ataxia' SubClassOf 'X-linked cerebellar ataxia' 'X-linked non progressive cerebellar ataxia' SubClassOf 'X-linked cerebellar ataxia' http://www.orpha.net/ORDO/Orphanet_276198 Spinocerebellar ataxia type 36 'Spinocerebellar ataxia type 36' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' 'Spinocerebellar ataxia type 36' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' http://www.orpha.net/ORDO/Orphanet_300333 Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome 'Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome' SubClassOf 'Syndromic genetic deafness' 'Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome' SubClassOf 'Basement membrane disease' 'Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome' SubClassOf 'Syndromic genetic deafness' 'Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome' SubClassOf 'Basement membrane disease' http://purl.obolibrary.org/obo/CHEBI_9948 verapamil 'verapamil' SubClassOf 'has_role' some 'vasodilator agent' 'verapamil' SubClassOf 'has_role' some 'anti-arrhythmia drug' http://purl.obolibrary.org/obo/CLO_0029036 ND06229 'ND06229' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'ND06229' SubClassOf 'has_quality' some 'male' 'ND06229' SubClassOf 'cultured cell' http://www.orpha.net/ORDO/Orphanet_363992 Ichthyosis-short stature-brachydactyly-microspherophakia syndrome 'Ichthyosis-short stature-brachydactyly-microspherophakia syndrome' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Ichthyosis-short stature-brachydactyly-microspherophakia syndrome' SubClassOf 'Autosomal ichthyosis syndrome with other associated signs' 'Ichthyosis-short stature-brachydactyly-microspherophakia syndrome' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Ichthyosis-short stature-brachydactyly-microspherophakia syndrome' SubClassOf 'Weill-Marchesani syndrome' 'Ichthyosis-short stature-brachydactyly-microspherophakia syndrome' SubClassOf 'Autosomal ichthyosis syndrome with other associated signs' http://www.orpha.net/ORDO/Orphanet_276183 Spinocerebellar ataxia type 32 'Spinocerebellar ataxia type 32' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' 'Spinocerebellar ataxia type 32' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' http://www.ebi.ac.uk/efo/EFO_0003900 ciliopathy 'ciliopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021197 'ciliopathy' EquivalentTo 'has_disease_location' some 'cilium' 'ciliopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003847 http://www.orpha.net/ORDO/Orphanet_70589 Bronchopulmonary dysplasia 'Bronchopulmonary dysplasia' SubClassOf 'Non-syndromic respiratory or mediastinal malformation' 'Bronchopulmonary dysplasia' SubClassOf 'Genetic respiratory malformation' http://www.ebi.ac.uk/efo/EFO_0003903 obsolete_Wiskott-Aldrich syndrome 'obsolete_Wiskott-Aldrich syndrome' SubClassOf 'obsolete class' 'obsolete_Wiskott-Aldrich syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_289465 Isolated adermatoglyphia 'Isolated adermatoglyphia' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Isolated adermatoglyphia' SubClassOf 'Malformation syndrome with skin/mucosae involvement' http://www.ebi.ac.uk/efo/EFO_0003902 spinal fracture 'spinal fracture' SubClassOf 'bone fracture' 'spinal fracture' SubClassOf http://purl.obolibrary.org/obo/MONDO_0037747 'spinal fracture' SubClassOf 'has_disease_location' some 'vertebral column structure' 'spinal fracture' SubClassOf 'bone fracture' http://purl.obolibrary.org/obo/CL_0000312 keratinocyte 'keratinocyte' SubClassOf 'located_in' some 'epidermis' http://www.orpha.net/ORDO/Orphanet_70593 Immunodeficiency due to selective anti-polysaccharide antibody deficiency 'Immunodeficiency due to selective anti-polysaccharide antibody deficiency' SubClassOf 'Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells' 'Immunodeficiency due to selective anti-polysaccharide antibody deficiency' SubClassOf 'Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells' http://www.ebi.ac.uk/efo/EFO_0003908 obsolete_refractive error 'obsolete_refractive error' SubClassOf 'obsolete class' 'obsolete_refractive error' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_70592 Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency 'Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency' SubClassOf 'Genetic susceptibility to infections due to particular pathogens' 'Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency' SubClassOf 'Genetic susceptibility to infections due to particular pathogens' http://www.ebi.ac.uk/efo/EFO_0003905 obsolete_venous thrombosis 'obsolete_venous thrombosis' SubClassOf 'obsolete class' 'obsolete_venous thrombosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_70595 Sensory ataxic neuropathy - dysarthria - ophthalmoparesis 'Sensory ataxic neuropathy - dysarthria - ophthalmoparesis' SubClassOf 'Mitochondrial myopathy' 'Sensory ataxic neuropathy - dysarthria - ophthalmoparesis' SubClassOf 'Mitochondrial disease with peripheral neuropathy' 'Sensory ataxic neuropathy - dysarthria - ophthalmoparesis' SubClassOf 'Ataxia neuropathy spectrum' 'Sensory ataxic neuropathy - dysarthria - ophthalmoparesis' SubClassOf 'Mitochondrial myopathy' 'Sensory ataxic neuropathy - dysarthria - ophthalmoparesis' SubClassOf 'Mitochondrial disease with peripheral neuropathy' 'Sensory ataxic neuropathy - dysarthria - ophthalmoparesis' SubClassOf 'Ataxia neuropathy spectrum' 'Sensory ataxic neuropathy - dysarthria - ophthalmoparesis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016402 http://www.orpha.net/ORDO/Orphanet_70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency 'Dopa-responsive dystonia due to sepiapterin reductase deficiency' SubClassOf 'Dopa-responsive dystonia' 'Dopa-responsive dystonia due to sepiapterin reductase deficiency' SubClassOf 'Disorder of pterin metabolism' 'Dopa-responsive dystonia due to sepiapterin reductase deficiency' SubClassOf 'Dopa-responsive dystonia' 'Dopa-responsive dystonia due to sepiapterin reductase deficiency' SubClassOf 'Cerebral organic aciduria' 'Dopa-responsive dystonia due to sepiapterin reductase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0045014 'Dopa-responsive dystonia due to sepiapterin reductase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044976 'Dopa-responsive dystonia due to sepiapterin reductase deficiency' SubClassOf 'Disorder of pterin metabolism' http://www.ebi.ac.uk/efo/EFO_0003909 obsolete_heart conduction system 'obsolete_heart conduction system' SubClassOf 'obsolete class' 'obsolete_heart conduction system' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/CHEBI_320061 methyl alpha-D-glucopyranoside 'methyl alpha-D-glucopyranoside' SubClassOf 'chemical entity' 'methyl alpha-D-glucopyranoside' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_300305 11p15.4 microduplication syndrome '11p15.4 microduplication syndrome' SubClassOf 'Partial duplication of the short arm of chromosome 11' '11p15.4 microduplication syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '11p15.4 microduplication syndrome' SubClassOf 'Overgrowth syndrome' '11p15.4 microduplication syndrome' SubClassOf 'Partial duplication of the short arm of chromosome 11' '11p15.4 microduplication syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '11p15.4 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 '11p15.4 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019717 '11p15.4 microduplication syndrome' SubClassOf 'Rare genetic neurological disorder' '11p15.4 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 http://www.orpha.net/ORDO/Orphanet_363989 Familial benign flecked retina 'Familial benign flecked retina' SubClassOf 'Retinal dystrophy' 'Familial benign flecked retina' SubClassOf 'Retinal dystrophy' http://purl.obolibrary.org/obo/CLO_0017043 GM17736 'GM17736' SubClassOf 'cultured cell' 'GM17736' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17736' SubClassOf 'has_quality' some 'male' http://purl.obolibrary.org/obo/CLO_0017045 GM17734 'GM17734' SubClassOf 'has_quality' some 'female' 'GM17734' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17734' SubClassOf 'cultured cell' http://purl.obolibrary.org/obo/CLO_0017044 GM17737 'GM17737' SubClassOf 'cultured cell' 'GM17737' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17737' SubClassOf 'has_quality' some 'male' http://purl.obolibrary.org/obo/CLO_0017046 GM17735 'GM17735' SubClassOf 'cultured cell' 'GM17735' SubClassOf 'has_quality' some 'female' 'GM17735' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/HP_0000426 Prominent nasal bridge 'Prominent nasal bridge' SubClassOf 'abnormality of the nose' 'Prominent nasal bridge' SubClassOf 'abnormality of the nose' http://purl.obolibrary.org/obo/CHEBI_320055 methyl beta-D-glucopyranoside 'methyl beta-D-glucopyranoside' SubClassOf 'chemical entity' 'methyl beta-D-glucopyranoside' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/HP_0000431 Wide nasal bridge 'Wide nasal bridge' SubClassOf 'abnormality of the nose' 'Wide nasal bridge' SubClassOf 'abnormality of the nose' http://purl.obolibrary.org/obo/HP_0001762 Talipes equinovarus 'Talipes equinovarus' SubClassOf 'Phenotypic abnormality' 'Talipes equinovarus' SubClassOf 'Phenotypic abnormality' http://purl.obolibrary.org/obo/HP_0001761 Pes cavus 'Pes cavus' SubClassOf 'abnormality of the skeletal system' 'Pes cavus' SubClassOf 'abnormality of the skeletal system' http://www.orpha.net/ORDO/Orphanet_300313 Congenital cataract-hearing loss-severe developmental delay syndrome 'Congenital cataract-hearing loss-severe developmental delay syndrome' SubClassOf 'Syndromic cataract' 'Congenital cataract-hearing loss-severe developmental delay syndrome' SubClassOf 'Neurometabolic disease' 'Congenital cataract-hearing loss-severe developmental delay syndrome' SubClassOf 'Syndromic cataract' 'Congenital cataract-hearing loss-severe developmental delay syndrome' SubClassOf 'Neurometabolic disease' http://purl.obolibrary.org/obo/CLO_0021913 AG09699 'AG09699' SubClassOf 'derives_from' some ('fibroblast' and ('part_of' some ('arm' and ('part_of' some 'Homo sapiens')))) 'AG09699' SubClassOf 'has_quality' some 'male' 'AG09699' SubClassOf 'cultured cell' http://www.orpha.net/ORDO/Orphanet_254776 Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies' 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies' http://www.ebi.ac.uk/efo/EFO_1000620 Vaginal Squamous Cell Carcinoma 'Vaginal Squamous Cell Carcinoma' SubClassOf 'urogenital neoplasm' 'Vaginal Squamous Cell Carcinoma' SubClassOf 'female reproductive system disease' 'Vaginal Squamous Cell Carcinoma' SubClassOf 'squamous cell carcinoma' 'Vaginal Squamous Cell Carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015867 'Vaginal Squamous Cell Carcinoma' SubClassOf 'has_disease_location' some ('vagina' or ('part_of' some 'vagina')) 'Vaginal Squamous Cell Carcinoma' SubClassOf 'squamous cell carcinoma' 'Vaginal Squamous Cell Carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001806 http://www.ebi.ac.uk/efo/EFO_1001952 endometrial adenosquamous carcinoma 'endometrial adenosquamous carcinoma' SubClassOf 'endometrial carcinoma' 'endometrial adenosquamous carcinoma' SubClassOf 'Endometrial Squamous Cell Carcinoma' 'endometrial adenosquamous carcinoma' SubClassOf 'has_disease_location' some ('endometrium' or ('part_of' some 'endometrium')) 'endometrial adenosquamous carcinoma' SubClassOf 'endometrial carcinoma' 'endometrial adenosquamous carcinoma' SubClassOf 'Adenosquamous Carcinoma' http://www.ebi.ac.uk/efo/EFO_1000621 Vagus Nerve Paraganglioma 'Vagus Nerve Paraganglioma' SubClassOf 'Paraganglioma' 'Vagus Nerve Paraganglioma' SubClassOf 'Paraganglioma' 'Vagus Nerve Paraganglioma' SubClassOf 'has_disease_location' some ('vagus nerve' or ('part_of' some 'vagus nerve')) http://www.ebi.ac.uk/efo/EFO_1001951 colorectal carcinoma 'colorectal carcinoma' SubClassOf 'digestive system disease' 'colorectal carcinoma' SubClassOf 'colorectal neoplasm' 'colorectal carcinoma' SubClassOf 'colorectal cancer' 'colorectal carcinoma' SubClassOf 'Digestive System Carcinoma' 'colorectal carcinoma' SubClassOf 'has_disease_location' some ('colorectum' or ('part_of' some 'colorectum')) 'colorectal carcinoma' SubClassOf 'colorectal neoplasm' http://www.ebi.ac.uk/efo/EFO_1001950 colon carcinoma 'colon carcinoma' SubClassOf 'colonic neoplasm' 'colon carcinoma' SubClassOf 'colorectal carcinoma' 'colon carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021063 'colon carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024479 'colon carcinoma' SubClassOf 'colorectal carcinoma' 'colon carcinoma' SubClassOf 'has_disease_location' some ('colon' or ('part_of' some 'colon')) http://purl.obolibrary.org/obo/CHEBI_70857 O-3-methylglutarylcarnitine 'O-3-methylglutarylcarnitine' SubClassOf 'chemical entity' 'O-3-methylglutarylcarnitine' SubClassOf 'chemical entity' http://www.ebi.ac.uk/efo/EFO_0003921 pouchitis 'pouchitis' SubClassOf 'digestive system disease' 'pouchitis' SubClassOf 'has_disease_location' some 'ileum' 'pouchitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024635 http://www.ebi.ac.uk/efo/EFO_0003920 obsolete_cleft palate 'obsolete_cleft palate' SubClassOf 'obsolete class' 'obsolete_cleft palate' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003926 neuropsychological test 'neuropsychological test' SubClassOf 'is_about' some 'central nervous system' 'neuropsychological test' SubClassOf 'is_about' some 'mental or behavioural disorder' http://www.ebi.ac.uk/efo/EFO_1001959 hilar cholangiocarcinoma 'hilar cholangiocarcinoma' SubClassOf 'cholangiocarcinoma' 'hilar cholangiocarcinoma' SubClassOf 'liver neoplasm' 'hilar cholangiocarcinoma' SubClassOf 'cholangiocarcinoma' 'hilar cholangiocarcinoma' SubClassOf 'intrahepatic cholangiocarcinoma' 'hilar cholangiocarcinoma' SubClassOf 'has_disease_location' some ('hilar portion of hepatic duct' or ('part_of' some 'hilar portion of hepatic duct')) http://www.ebi.ac.uk/efo/EFO_0003923 bone density 'bone density' SubClassOf 'is_about' some 'bone' 'bone density' SubClassOf 'is_about' some 'bone fracture' 'bone density' SubClassOf 'is_about' some 'bone disease' http://www.ebi.ac.uk/efo/EFO_1000626 obsolete_Wilms tumor (bis) 'obsolete_Wilms tumor (bis)' SubClassOf 'obsolete class' 'obsolete_Wilms tumor (bis)' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001958 high grade ovarian serous adenocarcinoma 'high grade ovarian serous adenocarcinoma' SubClassOf 'ovarian serous adenocarcinoma' 'high grade ovarian serous adenocarcinoma' SubClassOf 'has_disease_location' some ('female gonad' or ('part_of' some 'female gonad')) 'high grade ovarian serous adenocarcinoma' SubClassOf 'ovarian serous adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_1000627 thyroid disease 'thyroid disease' SubClassOf 'endocrine system disease' 'thyroid disease' EquivalentTo 'has_disease_location' some ('part_of' some 'thyroid gland') 'thyroid disease' SubClassOf 'endocrine system disease' 'thyroid disease' EquivalentTo 'has_disease_location' some 'thyroid gland' http://www.ebi.ac.uk/efo/EFO_1001957 hereditary thyroid gland medullary carcinoma 'hereditary thyroid gland medullary carcinoma' SubClassOf 'thyroid carcinoma' 'hereditary thyroid gland medullary carcinoma' SubClassOf 'has_disease_location' some ('thyroid gland' or ('part_of' some 'thyroid gland')) 'hereditary thyroid gland medullary carcinoma' SubClassOf 'thyroid carcinoma' http://www.ebi.ac.uk/efo/EFO_0003929 relapsing-remitting multiple sclerosis 'relapsing-remitting multiple sclerosis' SubClassOf 'multiple sclerosis' 'relapsing-remitting multiple sclerosis' SubClassOf 'multiple sclerosis' http://www.ebi.ac.uk/efo/EFO_1000624 Vulvar Squamous Cell Carcinoma 'Vulvar Squamous Cell Carcinoma' SubClassOf 'squamous cell carcinoma' 'Vulvar Squamous Cell Carcinoma' SubClassOf 'vulvar carcinoma' 'Vulvar Squamous Cell Carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002195 'Vulvar Squamous Cell Carcinoma' SubClassOf 'has_disease_location' some ('mammalian vulva' or ('part_of' some 'mammalian vulva')) 'Vulvar Squamous Cell Carcinoma' SubClassOf 'squamous cell carcinoma' 'Vulvar Squamous Cell Carcinoma' SubClassOf 'vulvar carcinoma' http://www.ebi.ac.uk/efo/EFO_1001956 gallbladder carcinoma 'gallbladder carcinoma' SubClassOf 'gallbladder disease' 'gallbladder carcinoma' SubClassOf 'Digestive System Carcinoma' 'gallbladder carcinoma' SubClassOf 'has_disease_location' some ('gallbladder' or ('part_of' some 'gallbladder')) 'gallbladder carcinoma' SubClassOf 'Digestive System Carcinoma' 'gallbladder carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0005411 http://purl.obolibrary.org/obo/CL_0000333 neural crest cell 'neural crest cell' SubClassOf 'participates_in' some 'embryo' http://www.ebi.ac.uk/efo/EFO_1000625 Warthin Tumor 'Warthin Tumor' SubClassOf 'adenoma' 'Warthin Tumor' SubClassOf 'salivary gland neoplasm' 'Warthin Tumor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021460 'Warthin Tumor' SubClassOf 'adenoma' 'Warthin Tumor' SubClassOf 'salivary gland neoplasm' 'Warthin Tumor' SubClassOf 'Digestive System Adenoma' 'Warthin Tumor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0036976 'Warthin Tumor' SubClassOf 'has_disease_location' some ('saliva-secreting gland' or ('part_of' some 'saliva-secreting gland')) http://www.ebi.ac.uk/efo/EFO_1001955 erythroleukemia 'erythroleukemia' SubClassOf 'acute erythroleukemia' 'erythroleukemia' SubClassOf 'skeletal system disease' 'erythroleukemia' SubClassOf 'has_disease_location' some ('bone marrow' or ('part_of' some 'bone marrow')) 'erythroleukemia' SubClassOf 'acute erythroleukemia' 'erythroleukemia' SubClassOf 'has_disease_location' some ('blood' or ('part_of' some 'blood')) http://www.ebi.ac.uk/efo/EFO_0003927 obsolete_myopia 'obsolete_myopia' SubClassOf 'obsolete class' 'obsolete_myopia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000622 VIP-Producing Neuroendocrine Tumor 'VIP-Producing Neuroendocrine Tumor' SubClassOf 'neuroendocrine neoplasm' 'VIP-Producing Neuroendocrine Tumor' SubClassOf 'digestive system disease' 'VIP-Producing Neuroendocrine Tumor' SubClassOf 'has_disease_location' some ('pancreas' or ('part_of' some 'pancreas')) 'VIP-Producing Neuroendocrine Tumor' SubClassOf 'neuroendocrine neoplasm' 'VIP-Producing Neuroendocrine Tumor' SubClassOf 'has_disease_location' some ('small intestine' or ('part_of' some 'small intestine')) http://www.ebi.ac.uk/efo/EFO_1001954 Epstein-Barr virus-related Burkitts lymphoma 'Epstein-Barr virus-related Burkitts lymphoma' SubClassOf 'Burkitts lymphoma' 'Epstein-Barr virus-related Burkitts lymphoma' SubClassOf 'lymphatic system disease' 'Epstein-Barr virus-related Burkitts lymphoma' SubClassOf 'has_disease_location' some ('lymphatic part of lymphoid system' or ('part_of' some 'lymphatic part of lymphoid system')) 'Epstein-Barr virus-related Burkitts lymphoma' SubClassOf 'Burkitts lymphoma' http://www.ebi.ac.uk/efo/EFO_0003928 necrotizing enterocolitis 'necrotizing enterocolitis' SubClassOf 'enterocolitis' 'necrotizing enterocolitis' SubClassOf 'has_disease_location' some 'intestine' 'necrotizing enterocolitis' SubClassOf 'intestinal disease' 'necrotizing enterocolitis' SubClassOf 'enterocolitis' http://www.ebi.ac.uk/efo/EFO_1000623 Vulvar Lichen Sclerosus 'Vulvar Lichen Sclerosus' SubClassOf 'female reproductive system disease' 'Vulvar Lichen Sclerosus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001938 'Vulvar Lichen Sclerosus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0007899 'Vulvar Lichen Sclerosus' SubClassOf 'has_disease_location' some ('mammalian vulva' or ('part_of' some 'mammalian vulva')) http://www.ebi.ac.uk/efo/EFO_1001953 endometrial endometrioid adenocarcinoma, variant with squamous differentiation 'endometrial endometrioid adenocarcinoma, variant with squamous differentiation' SubClassOf 'Endometrial Endometrioid Adenocarcinoma' 'endometrial endometrioid adenocarcinoma, variant with squamous differentiation' SubClassOf 'has_disease_location' some ('endometrium' or ('part_of' some 'endometrium')) 'endometrial endometrioid adenocarcinoma, variant with squamous differentiation' SubClassOf 'Endometrial Endometrioid Adenocarcinoma' http://www.orpha.net/ORDO/Orphanet_93299 Achondrogenesis type 1A 'Achondrogenesis type 1A' SubClassOf 'Achondrogenesis' 'Achondrogenesis type 1A' SubClassOf 'Achondrogenesis' http://www.orpha.net/ORDO/Orphanet_93298 Achondrogenesis type 1B 'Achondrogenesis type 1B' SubClassOf 'Sulfation-related bone disorder' 'Achondrogenesis type 1B' SubClassOf 'Achondrogenesis' 'Achondrogenesis type 1B' SubClassOf 'Sulfation-related bone disorder' 'Achondrogenesis type 1B' SubClassOf 'Achondrogenesis' http://www.orpha.net/ORDO/Orphanet_93297 Hypochondrogenesis 'Hypochondrogenesis' SubClassOf 'Achondrogenesis' 'Hypochondrogenesis' SubClassOf 'Type 2 collagen-related bone disorder' 'Hypochondrogenesis' SubClassOf 'Achondrogenesis' 'Hypochondrogenesis' SubClassOf 'Type 2 collagen-related bone disorder' http://www.orpha.net/ORDO/Orphanet_93296 Achondrogenesis type 2 'Achondrogenesis type 2' SubClassOf 'Type 2 collagen-related bone disorder' 'Achondrogenesis type 2' SubClassOf 'Achondrogenesis' 'Achondrogenesis type 2' SubClassOf 'Type 2 collagen-related bone disorder' 'Achondrogenesis type 2' SubClassOf 'Achondrogenesis' 'Achondrogenesis type 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0022800 http://www.orpha.net/ORDO/Orphanet_93293 Okihiro syndrome 'Okihiro syndrome' SubClassOf 'Syndromic anorectal malformation' 'Okihiro syndrome' SubClassOf 'Syndrome with a symptomatic strabismus' 'Okihiro syndrome' SubClassOf 'Genetic syndrome with limb reduction defects' 'Okihiro syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 'Okihiro syndrome' SubClassOf 'Syndromic anorectal malformation' 'Okihiro syndrome' SubClassOf 'Syndrome with a symptomatic strabismus' 'Okihiro syndrome' SubClassOf 'Genetic syndrome with limb reduction defects' 'Okihiro syndrome' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' 'Okihiro syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Okihiro syndrome' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_254788 Maternally-inherited mitochondrial myopathy 'Maternally-inherited mitochondrial myopathy' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' 'Maternally-inherited mitochondrial myopathy' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' http://www.ebi.ac.uk/efo/EFO_1000631 palsy 'palsy' SubClassOf 'nervous system disease' 'palsy' SubClassOf 'nervous system disease' http://www.ebi.ac.uk/efo/EFO_1001963 ovarian mucinous cystadenocarcinoma 'ovarian mucinous cystadenocarcinoma' SubClassOf 'ovarian neoplasm' 'ovarian mucinous cystadenocarcinoma' SubClassOf 'mucinous cystadenocarcinoma' 'ovarian mucinous cystadenocarcinoma' SubClassOf 'mucinous cystadenocarcinoma' 'ovarian mucinous cystadenocarcinoma' SubClassOf 'ovarian cystadenocarcinoma' 'ovarian mucinous cystadenocarcinoma' SubClassOf 'has_disease_location' some ('female gonad' or ('part_of' some 'female gonad')) 'ovarian mucinous cystadenocarcinoma' SubClassOf 'ovarian mucinous adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_1000632 cerebral palsy 'cerebral palsy' SubClassOf 'palsy' 'cerebral palsy' SubClassOf 'central nervous system disease' 'cerebral palsy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044996 'cerebral palsy' SubClassOf 'palsy' 'cerebral palsy' SubClassOf 'has_disease_location' some 'cerebral cortex' http://www.ebi.ac.uk/efo/EFO_1001962 ovarian cystadenocarcinoma 'ovarian cystadenocarcinoma' SubClassOf 'ovarian adenocarcinoma' 'ovarian cystadenocarcinoma' SubClassOf 'cystadenocarcinoma' 'ovarian cystadenocarcinoma' SubClassOf 'ovarian adenocarcinoma' 'ovarian cystadenocarcinoma' SubClassOf 'has_disease_location' some ('female gonad' or ('part_of' some 'female gonad')) http://www.ebi.ac.uk/efo/EFO_1001961 intrahepatic cholangiocarcinoma 'intrahepatic cholangiocarcinoma' SubClassOf 'liver neoplasm' 'intrahepatic cholangiocarcinoma' SubClassOf 'cholangiocarcinoma' 'intrahepatic cholangiocarcinoma' SubClassOf 'cholangiocarcinoma' 'intrahepatic cholangiocarcinoma' SubClassOf 'has_disease_location' some ('bile duct' or ('part_of' some 'bile duct')) 'intrahepatic cholangiocarcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001487 http://www.ebi.ac.uk/efo/EFO_1000630 marginal zone B-cell lymphoma 'marginal zone B-cell lymphoma' SubClassOf 'non-Hodgkins lymphoma' 'marginal zone B-cell lymphoma' SubClassOf 'spleen cancer' 'marginal zone B-cell lymphoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004699 'marginal zone B-cell lymphoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017594 http://www.ebi.ac.uk/efo/EFO_1001960 hypopharyngeal squamous cell carcinoma 'hypopharyngeal squamous cell carcinoma' SubClassOf 'hypopharyngeal carcinoma' 'hypopharyngeal squamous cell carcinoma' SubClassOf 'pharyngeal squamous cell carcinoma' 'hypopharyngeal squamous cell carcinoma' SubClassOf 'hypopharyngeal carcinoma' 'hypopharyngeal squamous cell carcinoma' SubClassOf 'has_disease_location' some ('hypopharynx' or ('part_of' some 'hypopharynx')) 'hypopharyngeal squamous cell carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020035 http://www.ebi.ac.uk/efo/EFO_0003910 obsolete_von Willebrand disease 'obsolete_von Willebrand disease' SubClassOf 'obsolete class' 'obsolete_von Willebrand disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003911 atrial flutter 'atrial flutter' SubClassOf 'atrial tachycardia' 'atrial flutter' SubClassOf 'atrial tachycardia' 'atrial flutter' SubClassOf 'has_disease_location' some 'cardiac atrium' http://www.ebi.ac.uk/efo/EFO_0003914 atherosclerosis 'atherosclerosis' SubClassOf 'has_disease_location' some 'artery' 'atherosclerosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002277 'atherosclerosis' SubClassOf 'disease has feature' some 'atherosclerotic lesion' http://www.ebi.ac.uk/efo/EFO_1000639 acquired metabolic disease 'acquired metabolic disease' SubClassOf 'metabolic disease' 'acquired metabolic disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024297 'acquired metabolic disease' SubClassOf 'metabolic disease' 'acquired metabolic disease' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021141 'acquired metabolic disease' EquivalentTo 'metabolic disease' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021141) http://www.ebi.ac.uk/efo/EFO_0003915 obsolete_congenital abnormality 'obsolete_congenital abnormality' SubClassOf 'obsolete class' 'obsolete_congenital abnormality' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003912 ankle brachial index 'ankle brachial index' SubClassOf 'is_about' some 'peripheral arterial disease' 'ankle brachial index' SubClassOf 'is_about' some 'cardiovascular system' http://www.ebi.ac.uk/efo/EFO_1000637 acute respiratory distress syndrome 'acute respiratory distress syndrome' SubClassOf 'respiratory system disease' 'acute respiratory distress syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'acute respiratory distress syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017027 'acute respiratory distress syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001208 http://www.ebi.ac.uk/efo/EFO_1001969 squamous cell breast carcinoma, acantholytic variant 'squamous cell breast carcinoma, acantholytic variant' SubClassOf 'squamous cell breast carcinoma' 'squamous cell breast carcinoma, acantholytic variant' SubClassOf 'has_disease_location' some ('breast' or ('part_of' some 'breast')) 'squamous cell breast carcinoma, acantholytic variant' SubClassOf 'squamous cell breast carcinoma' http://www.ebi.ac.uk/efo/EFO_0003913 angina pectoris 'angina pectoris' SubClassOf 'inheres_in' some 'coronary artery' http://www.ebi.ac.uk/efo/EFO_1001968 soft tissue sarcoma 'soft tissue sarcoma' SubClassOf 'soft tissue disease' 'soft tissue sarcoma' SubClassOf 'sarcoma' 'soft tissue sarcoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024637 'soft tissue sarcoma' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'soft tissue sarcoma' SubClassOf 'sarcoma' http://www.ebi.ac.uk/efo/EFO_1000638 Isaacs syndrome 'Isaacs syndrome' SubClassOf 'nervous system disease' 'Isaacs syndrome' SubClassOf 'nervous system disease' http://www.ebi.ac.uk/efo/EFO_0003918 obstructive sleep apnea 'obstructive sleep apnea' SubClassOf 'sleep apnea' 'obstructive sleep apnea' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'obstructive sleep apnea' SubClassOf 'sleep apnea' http://www.ebi.ac.uk/efo/EFO_1000635 hemangioma 'hemangioma' SubClassOf 'neoplasm' 'hemangioma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0036976 'hemangioma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019063 'hemangioma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024286 http://www.ebi.ac.uk/efo/EFO_1001967 salivary gland squamous cell carcinoma 'salivary gland squamous cell carcinoma' SubClassOf 'salivary gland neoplasm' 'salivary gland squamous cell carcinoma' SubClassOf 'oral squamous cell carcinoma' 'salivary gland squamous cell carcinoma' SubClassOf 'salivary gland neoplasm' 'salivary gland squamous cell carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000521 'salivary gland squamous cell carcinoma' SubClassOf 'has_disease_location' some ('saliva-secreting gland' or ('part_of' some 'saliva-secreting gland')) 'salivary gland squamous cell carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017167 http://www.ebi.ac.uk/efo/EFO_1000636 inflammatory skin disease 'inflammatory skin disease' SubClassOf 'skin disease' 'inflammatory skin disease' SubClassOf 'skin disease' http://www.ebi.ac.uk/efo/EFO_1001966 rectosigmoid adenocarcinoma 'rectosigmoid adenocarcinoma' SubClassOf 'colorectal adenocarcinoma' 'rectosigmoid adenocarcinoma' SubClassOf 'has_disease_location' some ('sigmoid colon' or ('part_of' some 'sigmoid colon')) 'rectosigmoid adenocarcinoma' SubClassOf 'colorectal adenocarcinoma' 'rectosigmoid adenocarcinoma' SubClassOf 'has_disease_location' some ('rectum' or ('part_of' some 'rectum')) http://www.ebi.ac.uk/efo/EFO_0003916 obsolete_cerebral arteriovenous malformation 'obsolete_cerebral arteriovenous malformation' SubClassOf 'obsolete class' 'obsolete_cerebral arteriovenous malformation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000633 adenomatous colon polyp 'adenomatous colon polyp' SubClassOf 'colonic neoplasm' 'adenomatous colon polyp' SubClassOf 'polyp' 'adenomatous colon polyp' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021400 'adenomatous colon polyp' SubClassOf 'has_disease_location' some 'colon' 'adenomatous colon polyp' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000527 http://www.ebi.ac.uk/efo/EFO_1001965 pharyngeal squamous cell carcinoma 'pharyngeal squamous cell carcinoma' SubClassOf 'pharynx cancer' 'pharyngeal squamous cell carcinoma' SubClassOf 'pharynx cancer' 'pharyngeal squamous cell carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021345 'pharyngeal squamous cell carcinoma' SubClassOf 'head and neck squamous cell carcinoma' 'pharyngeal squamous cell carcinoma' SubClassOf 'has_disease_location' some ('chordate pharynx' or ('part_of' some 'chordate pharynx')) http://www.ebi.ac.uk/efo/EFO_1000634 hamartoma 'hamartoma' SubClassOf 'neoplasm' 'hamartoma' SubClassOf 'neoplasm' http://www.ebi.ac.uk/efo/EFO_1001964 pancreatic somatostatinoma 'pancreatic somatostatinoma' SubClassOf 'pancreatic neoplasm' 'pancreatic somatostatinoma' SubClassOf 'pancreatic neoplasm' 'pancreatic somatostatinoma' SubClassOf 'has_disease_location' some ('pancreas' or ('part_of' some 'pancreas')) http://purl.obolibrary.org/obo/HP_0011198 EEG with generalized epileptiform discharges 'EEG with generalized epileptiform discharges' SubClassOf 'EEG abnormality' 'EEG with generalized epileptiform discharges' SubClassOf 'EEG abnormality' http://purl.obolibrary.org/obo/PO_0004542 rhizome 'rhizome' SubClassOf 'part_of' some 'root structure' http://www.ebi.ac.uk/efo/EFO_1000642 hemochromatosis 'hemochromatosis' SubClassOf 'metabolic disease' 'hemochromatosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024297 'hemochromatosis' SubClassOf 'metabolic disease' http://www.ebi.ac.uk/efo/EFO_1001974 uterine leiomyosarcoma 'uterine leiomyosarcoma' SubClassOf 'uterine sarcoma' 'uterine leiomyosarcoma' SubClassOf 'uterine sarcoma' 'uterine leiomyosarcoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004526 'uterine leiomyosarcoma' SubClassOf 'leiomyosarcoma' 'uterine leiomyosarcoma' SubClassOf 'has_disease_location' some ('uterus' or ('part_of' some 'uterus')) http://www.ebi.ac.uk/efo/EFO_1000643 infantile epileptic encephalopathy 'infantile epileptic encephalopathy' SubClassOf 'epilepsy' 'infantile epileptic encephalopathy' SubClassOf 'epilepsy' http://www.ebi.ac.uk/efo/EFO_1001973 ureter urothelial carcinoma 'ureter urothelial carcinoma' SubClassOf 'Ureter Carcinoma' 'ureter urothelial carcinoma' SubClassOf 'Ureter Carcinoma' 'ureter urothelial carcinoma' SubClassOf 'has_disease_location' some ('ureter' or ('part_of' some 'ureter')) http://www.ebi.ac.uk/efo/EFO_1000640 basal ganglia cerebrovascular disease 'basal ganglia cerebrovascular disease' SubClassOf 'cerebrovascular disorder' 'basal ganglia cerebrovascular disease' SubClassOf 'basal ganglia disease' 'basal ganglia cerebrovascular disease' SubClassOf 'cerebrovascular disorder' 'basal ganglia cerebrovascular disease' SubClassOf 'basal ganglia disease' http://www.ebi.ac.uk/efo/EFO_1001972 undifferentiated pleomorphic sarcoma 'undifferentiated pleomorphic sarcoma' SubClassOf 'soft tissue sarcoma' 'undifferentiated pleomorphic sarcoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021054 'undifferentiated pleomorphic sarcoma' SubClassOf 'soft tissue sarcoma' 'undifferentiated pleomorphic sarcoma' SubClassOf 'histiocytoma' http://www.ebi.ac.uk/efo/EFO_1000641 congenital nonspherocytic hemolytic anemia 'congenital nonspherocytic hemolytic anemia' SubClassOf 'Hemoglobinopathy' 'congenital nonspherocytic hemolytic anemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019050 'congenital nonspherocytic hemolytic anemia' SubClassOf 'Hemoglobinopathy' http://www.ebi.ac.uk/efo/EFO_1001971 thyroid gland sarcoma 'thyroid gland sarcoma' SubClassOf 'thyroid neoplasm' 'thyroid gland sarcoma' SubClassOf 'has_disease_location' some ('thyroid gland' or ('part_of' some 'thyroid gland')) 'thyroid gland sarcoma' SubClassOf 'thyroid neoplasm' http://www.ebi.ac.uk/efo/EFO_0002611 obsolete_hereditary breast and ovarian cancer 'obsolete_hereditary breast and ovarian cancer' SubClassOf 'obsolete class' 'obsolete_hereditary breast and ovarian cancer' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003943 humerus fracture 'humerus fracture' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044967 'humerus fracture' SubClassOf 'bone fracture' 'humerus fracture' SubClassOf 'has_disease_location' some 'humerus' http://www.ebi.ac.uk/efo/EFO_1001970 squamous papilloma 'squamous papilloma' SubClassOf 'epithelial neoplasm' 'squamous papilloma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002363 http://www.ebi.ac.uk/efo/EFO_0002610 cocaine dependence 'cocaine dependence' SubClassOf 'drug dependence' 'cocaine dependence' SubClassOf 'drug dependence' http://www.ebi.ac.uk/efo/EFO_0003944 tibia fracture 'tibia fracture' SubClassOf 'has_disease_location' some 'tibia' 'tibia fracture' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044967 'tibia fracture' SubClassOf 'bone fracture' http://www.ebi.ac.uk/efo/EFO_0002613 iatrogenic Kaposi's sarcoma 'iatrogenic Kaposi's sarcoma' SubClassOf 'Kaposi's sarcoma' 'iatrogenic Kaposi's sarcoma' SubClassOf 'Kaposi's sarcoma' http://www.ebi.ac.uk/efo/EFO_0002612 human herpesvirus 8 infection 'human herpesvirus 8 infection' SubClassOf 'viral disease' 'human herpesvirus 8 infection' SubClassOf 'has_participant' some 'Human herpesvirus 8' 'human herpesvirus 8 infection' SubClassOf 'Herpesviridae infectious disease' http://www.ebi.ac.uk/efo/EFO_0002615 internal carotid artery stenosis 'internal carotid artery stenosis' SubClassOf 'cerebrovascular disorder' 'internal carotid artery stenosis' SubClassOf 'has_disease_location' some 'carotid artery' 'internal carotid artery stenosis' SubClassOf 'cerebrovascular disorder' http://www.orpha.net/ORDO/Orphanet_240112 Progressive supranuclear palsy - progressive non fluent aphasia 'Progressive supranuclear palsy - progressive non fluent aphasia' SubClassOf 'Atypical progressive supranuclear palsy' 'Progressive supranuclear palsy - progressive non fluent aphasia' SubClassOf 'Atypical progressive supranuclear palsy' http://purl.obolibrary.org/obo/CL_0000351 trophoblast cell 'trophoblast cell' SubClassOf 'part_of' some 'blastocyst' http://www.ebi.ac.uk/efo/EFO_0003948 gastroesophageal reflux disease 'gastroesophageal reflux disease' SubClassOf 'esophageal disease' 'gastroesophageal reflux disease' SubClassOf 'stomach disease' 'gastroesophageal reflux disease' SubClassOf 'has_disease_location' some 'stomach' 'gastroesophageal reflux disease' SubClassOf 'has_disease_location' some 'esophagus' 'gastroesophageal reflux disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003847 'gastroesophageal reflux disease' SubClassOf 'esophageal disease' http://www.ebi.ac.uk/efo/EFO_0002617 metastatic melanoma 'metastatic melanoma' SubClassOf 'melanoma' 'metastatic melanoma' SubClassOf 'melanoma' 'metastatic melanoma' SubClassOf 'disease has feature' some 'metastatic neoplasm' http://www.ebi.ac.uk/efo/EFO_0003945 obsolete_menorrhagia 'obsolete_menorrhagia' SubClassOf 'obsolete class' 'obsolete_menorrhagia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000648 developmental dysplasia of the hip 'developmental dysplasia of the hip' SubClassOf 'bone development disease' 'developmental dysplasia of the hip' SubClassOf 'has_disease_location' some 'hip' 'developmental dysplasia of the hip' SubClassOf 'bone development disease' http://www.ebi.ac.uk/efo/EFO_0002616 macroglobulinemia 'macroglobulinemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002273 http://www.ebi.ac.uk/efo/EFO_0003946 obsolete_Fuchs' endothelial dystrophy 'obsolete_Fuchs' endothelial dystrophy' SubClassOf 'obsolete class' 'obsolete_Fuchs' endothelial dystrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000649 estrogen-receptor positive breast cancer 'estrogen-receptor positive breast cancer' SubClassOf 'breast carcinoma' 'estrogen-receptor positive breast cancer' SubClassOf 'breast carcinoma' http://www.ebi.ac.uk/efo/EFO_1001979 Adrenocorticotropic hormone deficiency 'Adrenocorticotropic hormone deficiency' SubClassOf 'hypopituitarism' 'Adrenocorticotropic hormone deficiency' SubClassOf 'hypopituitarism' 'Adrenocorticotropic hormone deficiency' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021128 'Adrenocorticotropic hormone deficiency' SubClassOf 'Non-acquired pituitary hormone deficiency' http://www.ebi.ac.uk/efo/EFO_0002619 obsolete_pituitary adenoma 'obsolete_pituitary adenoma' SubClassOf 'obsolete class' 'obsolete_pituitary adenoma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000646 papillary carcinoma 'papillary carcinoma' SubClassOf 'epithelial neoplasm' 'papillary carcinoma' SubClassOf 'epithelial neoplasm' 'papillary carcinoma' SubClassOf 'carcinoma' 'papillary carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021096 http://www.ebi.ac.uk/efo/EFO_1001978 3MC syndrome 1 '3MC syndrome 1' SubClassOf 'Craniofacial-ulnar-renal syndrome' '3MC syndrome 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017398 '3MC syndrome 1' SubClassOf 'Craniofacial-ulnar-renal syndrome' http://www.ebi.ac.uk/efo/EFO_0002618 pancreatic carcinoma 'pancreatic carcinoma' SubClassOf 'carcinoma' 'pancreatic carcinoma' SubClassOf 'pancreatic neoplasm' 'pancreatic carcinoma' SubClassOf 'Digestive System Carcinoma' 'pancreatic carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002116 'pancreatic carcinoma' SubClassOf 'has_disease_location' some 'pancreas' http://www.ebi.ac.uk/efo/EFO_1000647 renal tubular transport disease 'renal tubular transport disease' SubClassOf 'kidney disease' 'renal tubular transport disease' SubClassOf 'has_disease_location' some 'kidney' 'renal tubular transport disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019744 'renal tubular transport disease' SubClassOf 'kidney disease' http://www.ebi.ac.uk/efo/EFO_1001977 3MC syndrome 2 '3MC syndrome 2' SubClassOf 'Craniofacial-ulnar-renal syndrome' '3MC syndrome 2' SubClassOf 'Craniofacial-ulnar-renal syndrome' '3MC syndrome 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017398 http://www.ebi.ac.uk/efo/EFO_1000644 newborn respiratory distress syndrome 'newborn respiratory distress syndrome' SubClassOf 'lung disease' 'newborn respiratory distress syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001208 'newborn respiratory distress syndrome' SubClassOf 'lung disease' 'newborn respiratory distress syndrome' SubClassOf 'respiratory system disease' 'newborn respiratory distress syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'newborn respiratory distress syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017016 http://www.ebi.ac.uk/efo/EFO_1000645 orthostatic intolerance 'orthostatic intolerance' SubClassOf 'nervous system disease' 'orthostatic intolerance' SubClassOf 'nervous system disease' 'orthostatic intolerance' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015914 'orthostatic intolerance' SubClassOf 'Rare genetic neurological disorder' 'orthostatic intolerance' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000992 http://www.ebi.ac.uk/efo/EFO_1001975 vulvar leiomyosarcoma 'vulvar leiomyosarcoma' SubClassOf 'vulva sarcoma' 'vulvar leiomyosarcoma' SubClassOf 'has_disease_location' some ('mammalian vulva' or ('part_of' some 'mammalian vulva')) 'vulvar leiomyosarcoma' SubClassOf 'vulva sarcoma' 'vulvar leiomyosarcoma' SubClassOf 'leiomyosarcoma' http://www.orpha.net/ORDO/Orphanet_254749 Tricarboxylic acid cycle disorder 'Tricarboxylic acid cycle disorder' SubClassOf 'Disorder of energy metabolism' 'Tricarboxylic acid cycle disorder' SubClassOf 'Disorder of energy metabolism' 'Tricarboxylic acid cycle disorder' SubClassOf 'Organic aciduria' http://www.orpha.net/ORDO/Orphanet_254767 Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA 'Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies' 'Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies' http://www.ebi.ac.uk/efo/EFO_1000653 sarcopenia 'sarcopenia' SubClassOf 'muscular disease' 'sarcopenia' SubClassOf 'muscular disease' 'sarcopenia' SubClassOf ('part_of' some 'motor neuron') or ('has_disease_location' some 'motor neuron') http://www.ebi.ac.uk/efo/EFO_1001985 congenital fibrosis of the extraocular muscles 'congenital fibrosis of the extraocular muscles' SubClassOf 'ocular motility disease' 'congenital fibrosis of the extraocular muscles' SubClassOf 'ocular motility disease' http://www.ebi.ac.uk/efo/EFO_1000654 childhood cancer 'childhood cancer' SubClassOf 'cancer' 'childhood cancer' SubClassOf 'cancer' 'childhood cancer' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021079 http://www.ebi.ac.uk/efo/EFO_1001984 cardiac amyloidosis 'cardiac amyloidosis' SubClassOf 'amyloidosis' 'cardiac amyloidosis' SubClassOf 'amyloidosis' http://www.ebi.ac.uk/efo/EFO_1000651 recalcitrant atopic dermatitis 'recalcitrant atopic dermatitis' SubClassOf 'atopic eczema' 'recalcitrant atopic dermatitis' SubClassOf 'atopic eczema' http://www.ebi.ac.uk/efo/EFO_1001983 Autosomal recessive Charcot Marie Tooth disease type 2X 'Autosomal recessive Charcot Marie Tooth disease type 2X' SubClassOf 'Autosomal dominant Charcot-Marie-Tooth disease type 2' 'Autosomal recessive Charcot Marie Tooth disease type 2X' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019601 'Autosomal recessive Charcot Marie Tooth disease type 2X' SubClassOf 'Autosomal dominant Charcot-Marie-Tooth disease type 2' http://www.ebi.ac.uk/efo/EFO_1000652 acute pancreatitis 'acute pancreatitis' SubClassOf 'pancreatitis' 'acute pancreatitis' SubClassOf 'has phenotype' some 'acute' 'acute pancreatitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020683 'acute pancreatitis' SubClassOf 'pancreatitis' http://www.ebi.ac.uk/efo/EFO_1001982 Antisynthetase syndrome 'Antisynthetase syndrome' SubClassOf 'myositis' 'Antisynthetase syndrome' SubClassOf 'myositis' 'Antisynthetase syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020122 http://www.orpha.net/ORDO/Orphanet_324381 Hereditary inclusion body myopathy type 4 'Hereditary inclusion body myopathy type 4' SubClassOf 'Inclusion myopathy' 'Hereditary inclusion body myopathy type 4' SubClassOf 'Inclusion myopathy' http://www.ebi.ac.uk/efo/EFO_0002600 obsolete_distal portion of right coronary artery 'obsolete_distal portion of right coronary artery' SubClassOf 'obsolete class' 'obsolete_distal portion of right coronary artery' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003932 bacterial vaginosis 'bacterial vaginosis' SubClassOf 'bacterial disease' 'bacterial vaginosis' SubClassOf 'female reproductive system disease' 'bacterial vaginosis' SubClassOf 'commensal Bifidobacteriales infectious disease' 'bacterial vaginosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023557 'bacterial vaginosis' SubClassOf 'has_disease_location' some 'vagina' http://www.ebi.ac.uk/efo/EFO_1001981 Aminoacylase 1 deficiency 'Aminoacylase 1 deficiency' SubClassOf 'Aminoacylase deficiency' 'Aminoacylase 1 deficiency' SubClassOf 'Aminoacylase deficiency' http://www.ebi.ac.uk/efo/EFO_0003933 obsolete_mitral valve 'obsolete_mitral valve' SubClassOf 'obsolete class' 'obsolete_mitral valve' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000650 estrogen-receptor negative breast cancer 'estrogen-receptor negative breast cancer' SubClassOf 'breast carcinoma' 'estrogen-receptor negative breast cancer' SubClassOf 'breast carcinoma' http://www.ebi.ac.uk/efo/EFO_1001980 Alpha-methylacyl-CoA racemase deficiency 'Alpha-methylacyl-CoA racemase deficiency' SubClassOf 'Peroxisomal disease' 'Alpha-methylacyl-CoA racemase deficiency' SubClassOf 'Peroxisomal disease' 'Alpha-methylacyl-CoA racemase deficiency' SubClassOf 'Congenital bile acid synthesis defect type 4' http://www.ebi.ac.uk/efo/EFO_0002602 obsolete_proximal portion of circumflex branch of left coronary artery 'obsolete_proximal portion of circumflex branch of left coronary artery' SubClassOf 'obsolete class' 'obsolete_proximal portion of circumflex branch of left coronary artery' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002601 obsolete_proximal portion of anterior interventricular branch of left coronary artery 'obsolete_proximal portion of anterior interventricular branch of left coronary artery' SubClassOf 'obsolete class' 'obsolete_proximal portion of anterior interventricular branch of left coronary artery' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003931 bone fracture 'bone fracture' SubClassOf 'bone disease' 'bone fracture' SubClassOf 'injury' 'bone fracture' SubClassOf 'bone disease' 'bone fracture' SubClassOf 'has_disease_location' some 'bone' http://www.ebi.ac.uk/efo/EFO_0003936 obsolete_physiological process 'obsolete_physiological process' SubClassOf 'obsolete class' 'obsolete_physiological process' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002603 obsolete_proximal portion of right coronary artery 'obsolete_proximal portion of right coronary artery' SubClassOf 'obsolete class' 'obsolete_proximal portion of right coronary artery' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/CHEBI_9925 sodium valproate 'sodium valproate' SubClassOf ('has_role' some 'antimanic drug') and ('has_role' some 'anticonvulsant') http://www.ebi.ac.uk/efo/EFO_0002606 obsolete_gene 'obsolete_gene' SubClassOf 'obsolete class' 'obsolete_gene' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003934 obsolete_fatty liver 'obsolete_fatty liver' SubClassOf 'obsolete class' 'obsolete_fatty liver' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002608 AIDS dementia 'AIDS dementia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021674 'AIDS dementia' SubClassOf http://purl.obolibrary.org/obo/RO_0004022 some 'HIV infection' 'AIDS dementia' SubClassOf 'cognitive disorder' 'AIDS dementia' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://www.ebi.ac.uk/efo/EFO_1000657 rectum cancer 'rectum cancer' SubClassOf 'colorectal cancer' 'rectum cancer' SubClassOf 'colorectal cancer' 'rectum cancer' SubClassOf 'has_disease_location' some 'rectum' 'rectum cancer' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002165 http://www.ebi.ac.uk/efo/EFO_1001989 Monomelic amyotrophy 'Monomelic amyotrophy' SubClassOf 'motor neuron disease' 'Monomelic amyotrophy' SubClassOf 'motor neuron disease' 'Monomelic amyotrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020129 http://www.ebi.ac.uk/efo/EFO_0002607 obsolete_experiment 'obsolete_experiment' SubClassOf 'obsolete class' 'obsolete_experiment' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001988 Juvenile Polymyositis 'Juvenile Polymyositis' SubClassOf 'polymyositis' 'Juvenile Polymyositis' SubClassOf 'polymyositis' 'Juvenile Polymyositis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017021 'Juvenile Polymyositis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018010 http://www.ebi.ac.uk/efo/EFO_0003938 aphthous ulcer 'aphthous ulcer' SubClassOf 'mouth disease' 'aphthous ulcer' SubClassOf 'has_disease_location' some 'mouth' 'aphthous ulcer' SubClassOf 'stomatitis' http://www.ebi.ac.uk/efo/EFO_1001987 dropped head syndrome 'dropped head syndrome' SubClassOf 'muscular disease' 'dropped head syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016105 'dropped head syndrome' SubClassOf 'muscular disease' http://www.ebi.ac.uk/efo/EFO_0002609 juvenile idiopathic arthritis 'juvenile idiopathic arthritis' SubClassOf 'arthritis' 'juvenile idiopathic arthritis' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'juvenile idiopathic arthritis' SubClassOf 'has modifier' some 'chronic' 'juvenile idiopathic arthritis' SubClassOf 'arthritis' http://www.ebi.ac.uk/efo/EFO_1001986 connective tissue disease 'connective tissue disease' SubClassOf 'skeletal system disease' 'connective tissue disease' SubClassOf 'skeletal system disease' http://www.ebi.ac.uk/efo/EFO_1000656 sporadic Creutzfeld Jacob disease 'sporadic Creutzfeld Jacob disease' SubClassOf 'Creutzfeldt Jacob Disease' 'sporadic Creutzfeld Jacob disease' SubClassOf 'Creutzfeldt Jacob Disease' http://www.orpha.net/ORDO/Orphanet_254758 Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies 'Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies' SubClassOf 'Mitochondrial oxidative phosphorylation disorder' 'Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies' SubClassOf 'Mitochondrial oxidative phosphorylation disorder' http://www.ebi.ac.uk/efo/EFO_1000664 acrodermatitis 'acrodermatitis' SubClassOf 'skin disease' 'acrodermatitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002406 'acrodermatitis' SubClassOf 'skin disease' http://www.ebi.ac.uk/efo/EFO_1001996 Thalassemia 'Thalassemia' SubClassOf 'Hemoglobinopathy' 'Thalassemia' SubClassOf 'Hemoglobinopathy' 'Thalassemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019050 http://www.ebi.ac.uk/efo/EFO_1000665 acrodermatitis chronica atrophicans 'acrodermatitis chronica atrophicans' SubClassOf 'acrodermatitis' 'acrodermatitis chronica atrophicans' SubClassOf 'acrodermatitis' http://www.ebi.ac.uk/efo/EFO_1001995 Sclerodermatomyositis 'Sclerodermatomyositis' SubClassOf 'polymyositis' 'Sclerodermatomyositis' SubClassOf 'dermatomyositis' 'Sclerodermatomyositis' SubClassOf 'scleroderma' 'Sclerodermatomyositis' SubClassOf 'polymyositis' 'Sclerodermatomyositis' SubClassOf 'scleroderma' 'Sclerodermatomyositis' SubClassOf 'dermatomyositis' http://www.ebi.ac.uk/efo/EFO_0001300 obsolete_juvenile stage 'obsolete_juvenile stage' SubClassOf 'obsolete class' 'obsolete_juvenile stage' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002631 obsolete_arrhythmogenic right ventricular cardiomyopathy 'obsolete_arrhythmogenic right ventricular cardiomyopathy' SubClassOf 'obsolete class' 'obsolete_arrhythmogenic right ventricular cardiomyopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000662 acneiform dermatitis 'acneiform dermatitis' SubClassOf 'skin disease' 'acneiform dermatitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002406 'acneiform dermatitis' SubClassOf 'skin disease' http://www.ebi.ac.uk/efo/EFO_1001994 Scleroderma Polymyositis Overlap Syndrome 'Scleroderma Polymyositis Overlap Syndrome' SubClassOf 'polymyositis' 'Scleroderma Polymyositis Overlap Syndrome' SubClassOf 'scleroderma' 'Scleroderma Polymyositis Overlap Syndrome' SubClassOf 'polymyositis' 'Scleroderma Polymyositis Overlap Syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 'Scleroderma Polymyositis Overlap Syndrome' SubClassOf 'scleroderma' http://www.ebi.ac.uk/efo/EFO_1001993 scleroderma 'scleroderma' SubClassOf 'Connective tissue disease with eye involvement' 'scleroderma' SubClassOf 'Connective tissue disease with eye involvement' 'scleroderma' SubClassOf 'rheumatic disease' 'scleroderma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015939 'scleroderma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017368 http://www.ebi.ac.uk/efo/EFO_0002630 restrictive cardiomyopathy 'restrictive cardiomyopathy' SubClassOf 'cardiomyopathy' 'restrictive cardiomyopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000591 http://www.ebi.ac.uk/efo/EFO_1000663 acquired keratosis 'acquired keratosis' SubClassOf 'keratosis' 'acquired keratosis' EquivalentTo 'keratosis' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021141) 'acquired keratosis' SubClassOf 'keratosis' 'acquired keratosis' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021141 http://www.ebi.ac.uk/efo/EFO_1000660 acanthosis nigricans 'acanthosis nigricans' SubClassOf 'pigmentation disease' 'acanthosis nigricans' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002406 'acanthosis nigricans' SubClassOf 'pigmentation disease' 'acanthosis nigricans' SubClassOf 'Genetic pigmentation anomaly of the skin' http://www.ebi.ac.uk/efo/EFO_1001992 Scapuloperoneal spinal muscular atrophy 'Scapuloperoneal spinal muscular atrophy' SubClassOf 'Genetic motor neuron disease' 'Scapuloperoneal spinal muscular atrophy' SubClassOf 'motor neuron disease' 'Scapuloperoneal spinal muscular atrophy' SubClassOf 'Genetic motor neuron disease' http://www.ebi.ac.uk/efo/EFO_0003966 eye disease 'eye disease' SubClassOf 'disease' 'eye disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024458 'eye disease' EquivalentTo 'has_disease_location' some ('eye' or ('part_of' some 'eye')) 'eye disease' SubClassOf 'disease of orbital region' 'eye disease' SubClassOf 'has_disease_location' some ('eye' or ('part_of' some 'eye')) http://www.ebi.ac.uk/efo/EFO_0002632 obsolete_left ventricular noncompaction 'obsolete_left ventricular noncompaction' SubClassOf 'obsolete class' 'obsolete_left ventricular noncompaction' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000661 Achenbach syndrome 'Achenbach syndrome' SubClassOf 'skin disease' 'Achenbach syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Achenbach syndrome' SubClassOf 'skin disease' http://www.ebi.ac.uk/efo/EFO_1001991 pneumonitis 'pneumonitis' SubClassOf 'pneumonia' 'pneumonitis' SubClassOf 'pneumonia' 'pneumonitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021166 'pneumonitis' SubClassOf 'has_disease_location' some ('lung' or ('part_of' some 'lung')) 'pneumonitis' SubClassOf 'lung disease' http://www.ebi.ac.uk/efo/EFO_1001990 ocular motility disease 'ocular motility disease' SubClassOf 'eye disease' 'ocular motility disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003569 'ocular motility disease' SubClassOf 'eye disease' http://www.ebi.ac.uk/efo/EFO_0001303 obsolete_larval stage 'obsolete_larval stage' SubClassOf 'obsolete class' 'obsolete_larval stage' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003964 hip fracture 'hip fracture' SubClassOf 'bone fracture' 'hip fracture' SubClassOf 'bone fracture' 'hip fracture' SubClassOf 'has_disease_location' some 'femur' 'hip fracture' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044967 http://purl.obolibrary.org/obo/HP_0000486 Strabismus 'Strabismus' SubClassOf 'Abnormality of the eye' 'Strabismus' SubClassOf 'Abnormality of the eye' http://purl.obolibrary.org/obo/CLO_0032601 ND04158 'ND04158' SubClassOf 'cultured cell' 'ND04158' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'ND04158' SubClassOf 'bearer_of' some 'Parkinson's disease' 'ND04158' SubClassOf 'has_quality' some 'female' http://purl.obolibrary.org/obo/CL_0000371 protoplast 'protoplast' SubClassOf 'cell type' and ('participates_in' some 'experimental process') http://www.ebi.ac.uk/efo/EFO_0003968 angiosarcoma 'angiosarcoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002095 'angiosarcoma' SubClassOf 'soft tissue sarcoma' http://www.ebi.ac.uk/efo/EFO_1000668 allergic contact dermatitis 'allergic contact dermatitis' SubClassOf 'contact dermatitis' 'allergic contact dermatitis' SubClassOf 'contact dermatitis' 'allergic contact dermatitis' SubClassOf 'atopic eczema' http://www.ebi.ac.uk/efo/EFO_1000669 allergic urticaria 'allergic urticaria' SubClassOf 'urticaria' 'allergic urticaria' SubClassOf 'atopic eczema' 'allergic urticaria' SubClassOf 'urticaria' http://www.ebi.ac.uk/efo/EFO_1001999 systemic juvenile idiopathic arthritis 'systemic juvenile idiopathic arthritis' SubClassOf 'juvenile idiopathic arthritis' 'systemic juvenile idiopathic arthritis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019751 'systemic juvenile idiopathic arthritis' SubClassOf 'juvenile idiopathic arthritis' http://www.ebi.ac.uk/efo/EFO_1000666 acrokeratosis verruciformis 'acrokeratosis verruciformis' SubClassOf 'keratosis' 'acrokeratosis verruciformis' SubClassOf 'keratosis' 'acrokeratosis verruciformis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019271 http://www.ebi.ac.uk/efo/EFO_1001998 complex regional pain syndrome 'complex regional pain syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024317 http://purl.obolibrary.org/obo/HP_0000485 Megalocornea 'Megalocornea' SubClassOf 'Abnormality of the eye' 'Megalocornea' SubClassOf 'Abnormality of the eye' http://www.ebi.ac.uk/efo/EFO_1000667 adiposis dolorosa 'adiposis dolorosa' SubClassOf 'lipomatosis' 'adiposis dolorosa' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019296 'adiposis dolorosa' SubClassOf 'lipomatosis' 'adiposis dolorosa' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000652 http://www.ebi.ac.uk/efo/EFO_1001997 obsolete_triple-A syndrome 'obsolete_triple-A syndrome' SubClassOf 'obsolete class' 'obsolete_triple-A syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/CLO_0021943 AG09877 'AG09877' SubClassOf 'derives_from' some ('fibroblast' and ('part_of' some ('arm' and ('part_of' some 'Homo sapiens')))) 'AG09877' SubClassOf 'has_quality' some 'female' 'AG09877' SubClassOf 'cultured cell' http://www.orpha.net/ORDO/Orphanet_93259 Pfeiffer syndrome type 2 'Pfeiffer syndrome type 2' SubClassOf 'Pfeiffer syndrome' 'Pfeiffer syndrome type 2' SubClassOf 'Pfeiffer syndrome' http://www.orpha.net/ORDO/Orphanet_93258 Pfeiffer syndrome type 1 'Pfeiffer syndrome type 1' SubClassOf 'Pfeiffer syndrome' 'Pfeiffer syndrome type 1' SubClassOf 'Pfeiffer syndrome' http://www.orpha.net/ORDO/Orphanet_93256 Fragile X-associated tremor/ataxia syndrome 'Fragile X-associated tremor/ataxia syndrome' SubClassOf 'Rare genetic tremor disorder' 'Fragile X-associated tremor/ataxia syndrome' SubClassOf 'X-linked cerebellar ataxia' 'Fragile X-associated tremor/ataxia syndrome' SubClassOf 'X-linked cerebellar ataxia' http://www.ebi.ac.uk/efo/EFO_0003950 ulna fracture 'ulna fracture' SubClassOf 'has_disease_location' some 'arm' 'ulna fracture' SubClassOf 'bone fracture' 'ulna fracture' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044967 http://www.ebi.ac.uk/efo/EFO_1000675 cholesteatoma 'cholesteatoma' SubClassOf 'keratosis' 'cholesteatoma' SubClassOf 'keratosis' http://www.orpha.net/ORDO/Orphanet_325690 Genetic disorder of sex development 'Genetic disorder of sex development' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Genetic disorder of sex development' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002259 'Genetic disorder of sex development' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019755 http://www.ebi.ac.uk/efo/EFO_1000676 cholesteatoma of attic 'cholesteatoma of attic' SubClassOf 'cholesteatoma of middle ear' 'cholesteatoma of attic' SubClassOf 'cholesteatoma of middle ear' http://www.ebi.ac.uk/efo/EFO_0002620 obsolete_primary hyperparathyroidism 'obsolete_primary hyperparathyroidism' SubClassOf 'obsolete class' 'obsolete_primary hyperparathyroidism' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000673 bullous skin disease 'bullous skin disease' SubClassOf 'skin disease' 'bullous skin disease' SubClassOf 'skin disease' http://www.ebi.ac.uk/efo/EFO_1000674 carbuncle 'carbuncle' SubClassOf 'pyoderma' 'carbuncle' SubClassOf 'pyoderma' http://www.ebi.ac.uk/efo/EFO_0002622 rotavirus infection 'rotavirus infection' SubClassOf 'digestive system disease' 'rotavirus infection' SubClassOf 'viral disease' 'rotavirus infection' SubClassOf 'Reoviridae infectious disease' 'rotavirus infection' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043424 'rotavirus infection' SubClassOf 'has_disease_location' some 'digestive system' http://www.ebi.ac.uk/efo/EFO_0003954 obsolete_Treacher-Collins syndrome 'obsolete_Treacher-Collins syndrome' SubClassOf 'obsolete class' 'obsolete_Treacher-Collins syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000671 bacterial exanthem 'bacterial exanthem' SubClassOf 'exanthem' 'bacterial exanthem' SubClassOf 'exanthem' 'bacterial exanthem' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024295 http://www.ebi.ac.uk/efo/EFO_0002621 prostate intraepithelial neoplasia 'prostate intraepithelial neoplasia' SubClassOf 'neoplasm' 'prostate intraepithelial neoplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024474 'prostate intraepithelial neoplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021259 http://www.ebi.ac.uk/efo/EFO_0003955 bacterial sexually transmitted disease 'bacterial sexually transmitted disease' SubClassOf 'bacterial disease' 'bacterial sexually transmitted disease' SubClassOf 'has_disease_location' some 'male reproductive system' 'bacterial sexually transmitted disease' SubClassOf 'bacterial disease' 'bacterial sexually transmitted disease' SubClassOf 'has_disease_location' some 'female reproductive system' 'bacterial sexually transmitted disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021681 http://www.ebi.ac.uk/efo/EFO_1000672 obsolete_Bloch-Sulzberger syndrome 'obsolete_Bloch-Sulzberger syndrome' SubClassOf 'obsolete class' 'obsolete_Bloch-Sulzberger syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002624 obsolete_spinocerebellar ataxia 'obsolete_spinocerebellar ataxia' SubClassOf 'obsolete class' 'obsolete_spinocerebellar ataxia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002623 septic peritonitis 'septic peritonitis' SubClassOf 'bacterial disease' 'septic peritonitis' SubClassOf 'bacterial disease' 'septic peritonitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043424 http://www.ebi.ac.uk/efo/EFO_1000670 anhidrosis 'anhidrosis' SubClassOf 'sweat gland disease' 'anhidrosis' SubClassOf 'sweat gland disease' http://www.ebi.ac.uk/efo/EFO_0002626 thymus neoplasm 'thymus neoplasm' SubClassOf 'endocrine neoplasm' 'thymus neoplasm' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002334 'thymus neoplasm' SubClassOf 'has_disease_location' some 'thymus' 'thymus neoplasm' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021350 'thymus neoplasm' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002082 'thymus neoplasm' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003393 http://www.ebi.ac.uk/efo/EFO_0003958 sunburn 'sunburn' SubClassOf 'skin disease' 'sunburn' SubClassOf 'skin disease' 'sunburn' SubClassOf 'has_disease_location' some 'zone of skin' http://purl.obolibrary.org/obo/CL_0000384 ligament cell 'ligament cell' SubClassOf 'located_in' some 'ligament' http://www.ebi.ac.uk/efo/EFO_0002625 teratozoospermia 'teratozoospermia' SubClassOf 'male reproductive system disease' 'teratozoospermia' SubClassOf 'male reproductive system disease' 'teratozoospermia' EquivalentTo 'realized_in' some ('disease course' and ('has_quality' some 'abnormal') and ('has_disease_location' some 'sperm')) 'teratozoospermia' SubClassOf 'has_disease_location' some 'male reproductive system' http://www.ebi.ac.uk/efo/EFO_0002628 peripartum cardiomyopathy 'peripartum cardiomyopathy' SubClassOf 'dilated cardiomyopathy' 'peripartum cardiomyopathy' SubClassOf 'pregnancy disorder' 'peripartum cardiomyopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016338 http://www.ebi.ac.uk/efo/EFO_0003956 seasonal allergic rhinitis 'seasonal allergic rhinitis' SubClassOf 'allergic rhinitis' 'seasonal allergic rhinitis' SubClassOf 'allergic rhinitis' http://www.ebi.ac.uk/efo/EFO_0002627 vulvar intraepithelial neoplasia 'vulvar intraepithelial neoplasia' SubClassOf 'female reproductive system disease' 'vulvar intraepithelial neoplasia' SubClassOf 'urogenital neoplasm' 'vulvar intraepithelial neoplasia' SubClassOf 'has_disease_location' some 'mammalian vulva' 'vulvar intraepithelial neoplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015876 'vulvar intraepithelial neoplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002195 http://www.ebi.ac.uk/efo/EFO_0003957 radius fracture 'radius fracture' SubClassOf 'has_disease_location' some 'arm' 'radius fracture' SubClassOf 'bone fracture' http://www.orpha.net/ORDO/Orphanet_325697 Genetic 46,XX disorder of sex development 'Genetic 46,XX disorder of sex development' SubClassOf 'Genetic disorder of sex development' 'Genetic 46,XX disorder of sex development' SubClassOf 'Genetic disorder of sex development' http://www.ebi.ac.uk/efo/EFO_1000679 cholinergic urticaria 'cholinergic urticaria' SubClassOf 'physical urticaria' 'cholinergic urticaria' SubClassOf 'physical urticaria' http://purl.obolibrary.org/obo/CL_0000388 connective tissue 'connective tissue' SubClassOf 'part_of' some 'skeletal system' http://purl.obolibrary.org/obo/HP_0000494 Downslanted palpebral fissures 'Downslanted palpebral fissures' SubClassOf 'abnormality of the face' 'Downslanted palpebral fissures' SubClassOf 'abnormality of the face' http://www.ebi.ac.uk/efo/EFO_0002629 viral cardiomyopathy 'viral cardiomyopathy' SubClassOf 'dilated cardiomyopathy' 'viral cardiomyopathy' SubClassOf 'dilated cardiomyopathy' 'viral cardiomyopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021674 'viral cardiomyopathy' EquivalentTo 'dilated cardiomyopathy' and (http://purl.obolibrary.org/obo/RO_0004022 some 'viral disease') http://purl.obolibrary.org/obo/CL_0000387 hemocyte 'hemocyte' SubClassOf 'located_in' some 'hematopoietic system' http://www.ebi.ac.uk/efo/EFO_1000677 cholesteatoma of external ear 'cholesteatoma of external ear' SubClassOf 'cholesteatoma' 'cholesteatoma of external ear' SubClassOf 'cholesteatoma' 'cholesteatoma of external ear' SubClassOf 'external ear disease' http://www.orpha.net/ORDO/Orphanet_324364 Mixed sclerosing bone dystrophy with extra-skeletal manifestations 'Mixed sclerosing bone dystrophy with extra-skeletal manifestations' SubClassOf 'Primary bone dysplasia with increased bone density' 'Mixed sclerosing bone dystrophy with extra-skeletal manifestations' SubClassOf 'Primary bone dysplasia with increased bone density' http://www.ebi.ac.uk/efo/EFO_1000678 cholesteatoma of middle ear 'cholesteatoma of middle ear' SubClassOf 'cholesteatoma' 'cholesteatoma of middle ear' SubClassOf 'auditory system disease' 'cholesteatoma of middle ear' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003276 'cholesteatoma of middle ear' SubClassOf 'cholesteatoma' 'cholesteatoma of middle ear' SubClassOf 'has_disease_location' some 'ear' http://purl.obolibrary.org/obo/HP_0000490 Deeply set eye 'Deeply set eye' SubClassOf 'Abnormality of the eye' 'Deeply set eye' SubClassOf 'Abnormality of the eye' http://www.orpha.net/ORDO/Orphanet_93262 Crouzon syndrome - acanthosis nigricans 'Crouzon syndrome - acanthosis nigricans' SubClassOf 'Syndromic craniosynostosis' 'Crouzon syndrome - acanthosis nigricans' SubClassOf 'Craniostenosis associated with a strabismus' 'Crouzon syndrome - acanthosis nigricans' SubClassOf 'Syndromic craniosynostosis' 'Crouzon syndrome - acanthosis nigricans' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 'Crouzon syndrome - acanthosis nigricans' SubClassOf 'focal segmental glomerulosclerosis' 'Crouzon syndrome - acanthosis nigricans' SubClassOf 'Rare genetic neurological disorder' 'Crouzon syndrome - acanthosis nigricans' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Crouzon syndrome - acanthosis nigricans' SubClassOf 'Craniostenosis associated with a strabismus' http://www.orpha.net/ORDO/Orphanet_93260 Pfeiffer syndrome type 3 'Pfeiffer syndrome type 3' SubClassOf 'Pfeiffer syndrome' 'Pfeiffer syndrome type 3' SubClassOf 'Pfeiffer syndrome' http://purl.obolibrary.org/obo/PO_0004505 fertilized ovule stage 'fertilized ovule stage' SubClassOf 'seed development stage' 'fertilized ovule stage' SubClassOf 'seed development stage' http://www.orpha.net/ORDO/Orphanet_93269 Short rib-polydactyly syndrome, Majewski type 'Short rib-polydactyly syndrome, Majewski type' SubClassOf 'Short rib-polydactyly syndrome' 'Short rib-polydactyly syndrome, Majewski type' SubClassOf 'Short rib-polydactyly syndrome' http://www.orpha.net/ORDO/Orphanet_93268 Short rib-polydactyly syndrome, Beemer-Langer type 'Short rib-polydactyly syndrome, Beemer-Langer type' SubClassOf 'Short rib-polydactyly syndrome' 'Short rib-polydactyly syndrome, Beemer-Langer type' SubClassOf 'Jeune syndrome' http://www.orpha.net/ORDO/Orphanet_93267 Cloverleaf skull - multiple congenital anomalies 'Cloverleaf skull - multiple congenital anomalies' SubClassOf 'Syndromic craniosynostosis' 'Cloverleaf skull - multiple congenital anomalies' SubClassOf 'Syndromic craniosynostosis' http://www.ebi.ac.uk/efo/EFO_1000686 dermatosis papulosa nigra 'dermatosis papulosa nigra' SubClassOf 'skin disease' 'dermatosis papulosa nigra' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 'dermatosis papulosa nigra' SubClassOf 'skin disease' 'dermatosis papulosa nigra' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002406 http://www.ebi.ac.uk/efo/EFO_1000687 diffuse lipomatosis 'diffuse lipomatosis' SubClassOf 'lipomatosis' 'diffuse lipomatosis' SubClassOf 'lipomatosis' http://www.ebi.ac.uk/efo/EFO_1000684 dermatitis herpetiformis 'dermatitis herpetiformis' SubClassOf 'bullous skin disease' 'dermatitis herpetiformis' SubClassOf 'autoimmune bullous skin disease' 'dermatitis herpetiformis' SubClassOf 'bullous skin disease' http://www.ebi.ac.uk/efo/EFO_1000685 dermatographia 'dermatographia' SubClassOf 'physical urticaria' 'dermatographia' SubClassOf 'physical urticaria' http://www.ebi.ac.uk/efo/EFO_0001324 obsolete_Drosophila melanogaster strain 'obsolete_Drosophila melanogaster strain' SubClassOf 'obsolete class' 'obsolete_Drosophila melanogaster strain' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000682 conjunctival pigmentation 'conjunctival pigmentation' SubClassOf 'pigmentation disease' 'conjunctival pigmentation' SubClassOf 'pigmentation disease' 'conjunctival pigmentation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001331 http://www.orpha.net/ORDO/Orphanet_254793 Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA 'Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies' 'Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies' http://purl.obolibrary.org/obo/PO_0004506 developing seed stage 'developing seed stage' SubClassOf 'seed development stage' 'developing seed stage' SubClassOf 'seed development stage' http://www.ebi.ac.uk/efo/EFO_0001323 obsolete_fetus 'obsolete_fetus' SubClassOf 'obsolete class' 'obsolete_fetus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000683 cutaneous diphtheria 'cutaneous diphtheria' SubClassOf 'pyoderma' 'cutaneous diphtheria' SubClassOf 'pyoderma' http://www.ebi.ac.uk/efo/EFO_1000680 mucous membrane pemphigoid 'mucous membrane pemphigoid' SubClassOf 'autoimmune bullous skin disease' 'mucous membrane pemphigoid' SubClassOf 'bullous skin disease' 'mucous membrane pemphigoid' SubClassOf 'autoimmune bullous skin disease' http://www.ebi.ac.uk/efo/EFO_1000681 congenital generalized lipodystrophy 'congenital generalized lipodystrophy' SubClassOf 'lipodystrophy' 'congenital generalized lipodystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0027766 'congenital generalized lipodystrophy' SubClassOf 'lipodystrophy' 'congenital generalized lipodystrophy' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0027766 and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) 'congenital generalized lipodystrophy' SubClassOf 'Genetic lipodystrophy' http://www.ebi.ac.uk/efo/EFO_0002659 MDCC-MSB1 'MDCC-MSB1' SubClassOf 'derives_from' some ('lymphoblast' and ('part_of' some ('organism part' and ('part_of' some 'Gallus gallus')))) http://www.ebi.ac.uk/efo/EFO_1000688 dyshidrosis 'dyshidrosis' SubClassOf 'sweat gland disease' 'dyshidrosis' SubClassOf 'sweat gland disease' http://www.orpha.net/ORDO/Orphanet_300382 Progeroid and marfanoid aspect-lipodystrophy syndrome 'Progeroid and marfanoid aspect-lipodystrophy syndrome' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'Progeroid and marfanoid aspect-lipodystrophy syndrome' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'Progeroid and marfanoid aspect-lipodystrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015938 http://www.orpha.net/ORDO/Orphanet_324353 Congenital achiasma 'Congenital achiasma' SubClassOf 'Cranial nerve and nuclear aplasia' 'Congenital achiasma' SubClassOf 'Cranial nerve and nuclear aplasia' http://www.ebi.ac.uk/efo/EFO_1000689 ecthyma 'ecthyma' SubClassOf 'impetigo' 'ecthyma' SubClassOf 'impetigo' http://www.orpha.net/ORDO/Orphanet_93277 Monostotic fibrous dysplasia 'Monostotic fibrous dysplasia' SubClassOf 'Fibrous dysplasia of bone' 'Monostotic fibrous dysplasia' SubClassOf 'Fibrous dysplasia of bone' http://www.orpha.net/ORDO/Orphanet_93276 Polyostotic fibrous dysplasia 'Polyostotic fibrous dysplasia' SubClassOf 'Fibrous dysplasia of bone' 'Polyostotic fibrous dysplasia' SubClassOf 'Fibrous dysplasia of bone' http://www.orpha.net/ORDO/Orphanet_93274 Thanatophoric dysplasia type 2 'Thanatophoric dysplasia type 2' SubClassOf 'Thanatophoric dysplasia' 'Thanatophoric dysplasia type 2' SubClassOf 'Thanatophoric dysplasia' http://www.orpha.net/ORDO/Orphanet_93271 Short rib-polydactyly syndrome, Verma-Naumoff type 'Short rib-polydactyly syndrome, Verma-Naumoff type' SubClassOf 'Syndromic anorectal malformation' 'Short rib-polydactyly syndrome, Verma-Naumoff type' SubClassOf 'Short rib-polydactyly syndrome' 'Short rib-polydactyly syndrome, Verma-Naumoff type' SubClassOf 'Syndromic anorectal malformation' 'Short rib-polydactyly syndrome, Verma-Naumoff type' SubClassOf 'Short rib-polydactyly syndrome' http://www.orpha.net/ORDO/Orphanet_93270 Short rib-polydactyly syndrome, Saldino-Noonan type 'Short rib-polydactyly syndrome, Saldino-Noonan type' SubClassOf 'Short rib-polydactyly syndrome' 'Short rib-polydactyly syndrome, Saldino-Noonan type' SubClassOf 'Short rib-polydactyly syndrome' http://www.ebi.ac.uk/efo/EFO_1000690 epidermolysis bullosa 'epidermolysis bullosa' SubClassOf 'vesiculobullous skin disease' 'epidermolysis bullosa' SubClassOf 'vesiculobullous skin disease' http://www.orpha.net/ORDO/Orphanet_93279 Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis 'Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis' SubClassOf 'Type 2 collagen-related bone disorder' 'Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0022800 'Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis' SubClassOf 'Type 2 collagen-related bone disorder' http://www.ebi.ac.uk/efo/EFO_0003972 ESHyb 'ESHyb' SubClassOf 'derives_from' some ('mouse embryonic stem cell' and ('part_of' some ('organism part' and ('part_of' some 'Mus')))) http://www.ebi.ac.uk/efo/EFO_1000697 exanthem 'exanthem' SubClassOf 'skin disease' 'exanthem' SubClassOf 'disease has feature' some 'exanthem' 'exanthem' SubClassOf 'skin disease' http://www.ebi.ac.uk/efo/EFO_1000698 facial dermatosis 'facial dermatosis' SubClassOf 'skin disease' 'facial dermatosis' SubClassOf 'skin disease' http://www.ebi.ac.uk/efo/EFO_0003970 mouse erythroleukemia cell 'mouse erythroleukemia cell' SubClassOf 'located_in' some 'Mus' http://www.ebi.ac.uk/efo/EFO_1000695 erythematosquamous dermatosis 'erythematosquamous dermatosis' SubClassOf 'skin disease' 'erythematosquamous dermatosis' SubClassOf 'skin disease' http://www.ebi.ac.uk/efo/EFO_0001310 obsolete_pharyngula stage 'obsolete_pharyngula stage' SubClassOf 'obsolete class' 'obsolete_pharyngula stage' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003971 MEL cell line 'MEL cell line' SubClassOf 'derives_from' some ('mouse erythroleukemia cell' and ('part_of' some ('spleen' and ('part_of' some 'Mus')))) http://www.ebi.ac.uk/efo/EFO_1000696 erythrasma 'erythrasma' SubClassOf 'pyoderma' 'erythrasma' SubClassOf 'pyoderma' http://www.ebi.ac.uk/efo/EFO_1000693 erythema infectiosum 'erythema infectiosum' SubClassOf 'viral exanthem' 'erythema infectiosum' SubClassOf 'viral exanthem' 'erythema infectiosum' SubClassOf http://purl.obolibrary.org/obo/MONDO_0025371 'erythema infectiosum' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024294 http://www.ebi.ac.uk/efo/EFO_1000694 erythema multiforme 'erythema multiforme' SubClassOf 'skin disease' 'erythema multiforme' SubClassOf 'skin disease' http://www.ebi.ac.uk/efo/EFO_1000691 epidermolysis bullosa acquisita 'epidermolysis bullosa acquisita' SubClassOf 'epidermolysis bullosa' 'epidermolysis bullosa acquisita' SubClassOf 'autoimmune bullous skin disease' 'epidermolysis bullosa acquisita' EquivalentTo 'epidermolysis bullosa' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021141) 'epidermolysis bullosa acquisita' SubClassOf 'epidermolysis bullosa' 'epidermolysis bullosa acquisita' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021141 http://www.ebi.ac.uk/efo/EFO_1000692 epidermolysis bullosa dystrophica 'epidermolysis bullosa dystrophica' SubClassOf 'epidermolysis bullosa' 'epidermolysis bullosa dystrophica' SubClassOf 'epidermolysis bullosa' http://www.ebi.ac.uk/efo/EFO_1000699 fibroepithelial polyp of the anus 'fibroepithelial polyp of the anus' SubClassOf 'polyp' 'fibroepithelial polyp of the anus' SubClassOf 'polyp' 'fibroepithelial polyp of the anus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0060765 'fibroepithelial polyp of the anus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0060766 http://www.orpha.net/ORDO/Orphanet_93284 Spondyloepiphyseal dysplasia tarda 'Spondyloepiphyseal dysplasia tarda' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Spondyloepiphyseal dysplasia tarda' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_93283 Spondyloepiphyseal dysplasia, Kimberley type 'Spondyloepiphyseal dysplasia, Kimberley type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Spondyloepiphyseal dysplasia, Kimberley type' SubClassOf 'Aggrecan-related bone disorder' 'Spondyloepiphyseal dysplasia, Kimberley type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Spondyloepiphyseal dysplasia, Kimberley type' SubClassOf 'Aggrecan-related bone disorder' 'Spondyloepiphyseal dysplasia, Kimberley type' SubClassOf 'CHST3-related skeletal dysplasia' http://purl.obolibrary.org/obo/CLO_0033909 GM13995 'GM13995' SubClassOf 'has_quality' some 'female' 'GM13995' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM13995' SubClassOf 'cultured cell' http://www.orpha.net/ORDO/Orphanet_93282 Spondyloepimetaphyseal dysplasia, Pakistani type 'Spondyloepimetaphyseal dysplasia, Pakistani type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 'Spondyloepimetaphyseal dysplasia, Pakistani type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000844 http://www.ebi.ac.uk/efo/EFO_0003880 appendiceal neoplasm 'appendiceal neoplasm' SubClassOf 'colonic neoplasm' 'appendiceal neoplasm' EquivalentTo 'neoplasm' and ('has_disease_location' some ('vermiform appendix' or ('part_of' some 'vermiform appendix'))) 'appendiceal neoplasm' SubClassOf 'cecal neoplasm' http://www.orpha.net/ORDO/Orphanet_861 Treacher-Collins syndrome 'Treacher-Collins syndrome' SubClassOf 'Malposition of external canthus' 'Treacher-Collins syndrome' SubClassOf 'Dysostosis with predominant craniofacial involvement' 'Treacher-Collins syndrome' SubClassOf 'Syndrome with a symptomatic strabismus' 'Treacher-Collins syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Treacher-Collins syndrome' SubClassOf 'Mandibulofacial dysostosis' 'Treacher-Collins syndrome' SubClassOf 'Eyebrow/eyelashes distichiasis' 'Treacher-Collins syndrome' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Treacher-Collins syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Treacher-Collins syndrome' SubClassOf 'Pierre Robin syndrome associated with branchial archs anomalies' 'Treacher-Collins syndrome' SubClassOf 'Syndromic genetic deafness' 'Treacher-Collins syndrome' SubClassOf 'Syndromic palpebral coloboma' 'Treacher-Collins syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 'Treacher-Collins syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020169 'Treacher-Collins syndrome' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Treacher-Collins syndrome' SubClassOf 'Pierre Robin syndrome associated with branchial archs anomalies' 'Treacher-Collins syndrome' SubClassOf 'Syndromic palpebral coloboma' 'Treacher-Collins syndrome' SubClassOf 'Malposition of external canthus' 'Treacher-Collins syndrome' SubClassOf 'Dysostosis with predominant craniofacial involvement' 'Treacher-Collins syndrome' SubClassOf 'Syndrome with a symptomatic strabismus' 'Treacher-Collins syndrome' SubClassOf 'Mandibulofacial dysostosis' 'Treacher-Collins syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Treacher-Collins syndrome' SubClassOf 'Eyebrow/eyelashes distichiasis' 'Treacher-Collins syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 'Treacher-Collins syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Treacher-Collins syndrome' SubClassOf 'Syndromic genetic deafness' http://www.ebi.ac.uk/efo/EFO_0002550 obsolete_brachiocephalic artery 'obsolete_brachiocephalic artery' SubClassOf 'obsolete class' 'obsolete_brachiocephalic artery' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_860 Congenitally uncorrected transposition of the great arteries 'Congenitally uncorrected transposition of the great arteries' SubClassOf 'Genetic cardiac anomaly' 'Congenitally uncorrected transposition of the great arteries' SubClassOf 'Genetic cardiac anomaly' 'Congenitally uncorrected transposition of the great arteries' SubClassOf 'congenital heart disease' 'Congenitally uncorrected transposition of the great arteries' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000153 http://www.orpha.net/ORDO/Orphanet_228402 2q23.1 microdeletion syndrome '2q23.1 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 2' '2q23.1 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 2' '2q23.1 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015652 '2q23.1 microdeletion syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '2q23.1 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 http://www.ebi.ac.uk/efo/EFO_0001221 NCI-H929 'NCI-H929' SubClassOf 'cancer cell line' 'NCI-H929' SubClassOf 'lymphoma or leukaemia cell line' 'NCI-H929' SubClassOf 'bearer_of' some 'multiple myeloma' 'NCI-H929' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('bone marrow' and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_0002552 obsolete_renal artery 'obsolete_renal artery' SubClassOf 'obsolete class' 'obsolete_renal artery' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003884 chronic kidney disease 'chronic kidney disease' SubClassOf 'has modifier' some 'chronic' http://www.ebi.ac.uk/efo/EFO_0001220 MOLT-4 'MOLT-4' SubClassOf 'bearer_of' some 'acute lymphoblastic leukemia' 'MOLT-4' SubClassOf 'derives_from' some ('T cell' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0002551 obsolete_coronary artery 'obsolete_coronary artery' SubClassOf 'obsolete class' 'obsolete_coronary artery' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003885 multiple sclerosis 'multiple sclerosis' SubClassOf 'central nervous system disease' 'multiple sclerosis' SubClassOf 'autoimmune disease' 'multiple sclerosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000568 'multiple sclerosis' SubClassOf 'brain disease' 'multiple sclerosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002562 'multiple sclerosis' SubClassOf 'has_disease_location' some 'brain' 'multiple sclerosis' SubClassOf 'CNS demyelinating autoimmune disease' http://www.ebi.ac.uk/efo/EFO_0001223 NIH3T3-L1 'NIH3T3-L1' SubClassOf 'derives_from' some 'NIH3T3' 'NIH3T3-L1' SubClassOf 'derives_from' some ('fibroblast' and ('part_of' some ('organism part' and ('part_of' some 'Mus musculus')))) http://www.ebi.ac.uk/efo/EFO_0002554 obsolete_gastric fundus 'obsolete_gastric fundus' SubClassOf 'obsolete class' 'obsolete_gastric fundus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003882 osteoporosis 'osteoporosis' SubClassOf 'bone disease' 'osteoporosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000837 'osteoporosis' SubClassOf 'has_disease_location' some 'bone' http://www.ebi.ac.uk/efo/EFO_0001222 NIH3T3 'NIH3T3' SubClassOf 'derives_from' some ('fibroblast' and ('part_of' some ('embryo' and ('part_of' some 'Mus musculus')))) http://www.ebi.ac.uk/efo/EFO_0002553 obsolete_tongue mucosa 'obsolete_tongue mucosa' SubClassOf 'obsolete class' 'obsolete_tongue mucosa' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003883 obsolete_brain ischemia 'obsolete_brain ischemia' SubClassOf 'obsolete class' 'obsolete_brain ischemia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001225 PC12 'PC12' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('adrenal gland' and ('part_of' some 'Rattus norvegicus')))) 'PC12' SubClassOf 'bearer_of' some 'adrenal gland pheochromocytoma' http://www.ebi.ac.uk/efo/EFO_0002556 obsolete_pancreatic duct epithelium 'obsolete_pancreatic duct epithelium' SubClassOf 'obsolete class' 'obsolete_pancreatic duct epithelium' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003888 attention deficit hyperactivity disorder 'attention deficit hyperactivity disorder' SubClassOf 'mental or behavioural disorder' 'attention deficit hyperactivity disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000592 http://www.orpha.net/ORDO/Orphanet_7 3C syndrome '3C syndrome' SubClassOf 'Genetic syndrome with a Dandy-Walker malformation as major feature' '3C syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '3C syndrome' SubClassOf 'Genetic syndrome with a Dandy-Walker malformation as major feature' '3C syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 '3C syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '3C syndrome' SubClassOf 'disease has feature' some 'Dandy-Walker syndrome' http://www.ebi.ac.uk/efo/EFO_0001224 PAC2 'PAC2' SubClassOf 'derives_from' some ('fibroblast' and ('part_of' some ('embryo' and ('part_of' some 'Danio rerio')))) http://www.ebi.ac.uk/efo/EFO_0002555 obsolete_pyloric antrum 'obsolete_pyloric antrum' SubClassOf 'obsolete class' 'obsolete_pyloric antrum' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_8 47,XYY syndrome '47,XYY syndrome' SubClassOf 'Y chromosome number anomaly' '47,XYY syndrome' SubClassOf 'Y chromosome number anomaly' '47,XYY syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 http://www.ebi.ac.uk/efo/EFO_0001227 R28 'R28' SubClassOf 'bearer_of' some 'glioblastoma multiforme' 'R28' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_0002558 obsolete_parotid gland 'obsolete_parotid gland' SubClassOf 'obsolete class' 'obsolete_parotid gland' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003886 obsolete_metacarpal bone 'obsolete_metacarpal bone' SubClassOf 'obsolete class' 'obsolete_metacarpal bone' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf 'Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy' 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf '3-hydroxyacyl-CoA dehydrogenase deficiency' 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf 'Syndrome with hypoparathyroidism' 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf 'Rare hereditary metabolic disease with peripheral neuropathy' 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf 'Metabolic disease with pigmentary retinitis' 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf 'Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy' 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf '3-hydroxyacyl-CoA dehydrogenase deficiency' 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf 'Syndrome with hypoparathyroidism' 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf 'Rare syndromic dyslipidemia' 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf 'Rare hereditary metabolic disease with peripheral neuropathy' 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf 'Metabolic disease with pigmentary retinitis' http://www.ebi.ac.uk/efo/EFO_0001226 R18 'R18' SubClassOf 'bearer_of' some 'glioblastoma multiforme' 'R18' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_0002557 pancreatic mesenchyme 'pancreatic mesenchyme' SubClassOf 'part_of' some 'pancreas' http://www.ebi.ac.uk/efo/EFO_0003887 obsolete_thrombophlebitis 'obsolete_thrombophlebitis' SubClassOf 'obsolete class' 'obsolete_thrombophlebitis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_6 Isolated 3-methylcrotonyl-CoA carboxylase deficiency 'Isolated 3-methylcrotonyl-CoA carboxylase deficiency' SubClassOf 'Classic organic aciduria' 'Isolated 3-methylcrotonyl-CoA carboxylase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044976 'Isolated 3-methylcrotonyl-CoA carboxylase deficiency' SubClassOf 'Classic organic aciduria' http://www.ebi.ac.uk/efo/EFO_0001229 R46 'R46' SubClassOf 'bearer_of' some 'glioblastoma multiforme' 'R46' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_0001228 R43 'R43' SubClassOf 'bearer_of' some 'glioblastoma multiforme' 'R43' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_0002559 obsolete_ciliary ganglion 'obsolete_ciliary ganglion' SubClassOf 'obsolete class' 'obsolete_ciliary ganglion' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_859 Transcobalamin deficiency 'Transcobalamin deficiency' SubClassOf 'Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder' 'Transcobalamin deficiency' SubClassOf 'Disorder of cobalamin metabolism and transport' 'Transcobalamin deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018035 'Transcobalamin deficiency' SubClassOf 'Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder' 'Transcobalamin deficiency' SubClassOf 'Disorder of cobalamin metabolism and transport' http://www.orpha.net/ORDO/Orphanet_857 Townes-Brocks syndrome 'Townes-Brocks syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Townes-Brocks syndrome' SubClassOf 'Syndromic anorectal malformation' 'Townes-Brocks syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Townes-Brocks syndrome' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Townes-Brocks syndrome' SubClassOf 'Syndromic genetic deafness' 'Townes-Brocks syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Townes-Brocks syndrome' SubClassOf 'Otomandibular dysplasia associated with monogenic syndromes' 'Townes-Brocks syndrome' SubClassOf 'Syndromic anorectal malformation' 'Townes-Brocks syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Townes-Brocks syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 'Townes-Brocks syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Townes-Brocks syndrome' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Townes-Brocks syndrome' SubClassOf 'Syndromic genetic deafness' 'Townes-Brocks syndrome' SubClassOf 'Otomandibular dysplasia associated with monogenic syndromes' 'Townes-Brocks syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Townes-Brocks syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 http://www.orpha.net/ORDO/Orphanet_229720 Syndromic agammaglobulinemia 'Syndromic agammaglobulinemia' SubClassOf 'Agammaglobulinemia' 'Syndromic agammaglobulinemia' EquivalentTo 'Agammaglobulinemia' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021127) 'Syndromic agammaglobulinemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Syndromic agammaglobulinemia' SubClassOf 'Agammaglobulinemia' http://www.ebi.ac.uk/efo/EFO_0003870 brain aneurysm 'brain aneurysm' SubClassOf 'cerebrovascular disorder' 'brain aneurysm' SubClassOf 'cerebral arterial disease' 'brain aneurysm' SubClassOf 'has_disease_location' some 'brain blood vessel' http://www.orpha.net/ORDO/Orphanet_871 Familial progressive cardiac conduction defect 'Familial progressive cardiac conduction defect' SubClassOf 'Genetic cardiac rhythm disease' 'Familial progressive cardiac conduction defect' SubClassOf 'Genetic cardiac rhythm disease' http://www.ebi.ac.uk/efo/EFO_0003873 parotid neoplasm 'parotid neoplasm' SubClassOf 'digestive system disease' 'parotid neoplasm' SubClassOf 'head and neck neoplasia' 'parotid neoplasm' EquivalentTo 'neoplasm' and ('has_disease_location' some 'parotid gland') 'parotid neoplasm' SubClassOf 'salivary gland neoplasm' http://www.ebi.ac.uk/efo/EFO_0002540 nestin positive islet-derived progenitor cell 'nestin positive islet-derived progenitor cell' SubClassOf 'located_in' some 'pancreas' http://www.ebi.ac.uk/efo/EFO_0003874 flatfoot 'flatfoot' SubClassOf 'skeletal system disease' 'flatfoot' SubClassOf 'has_disease_location' some 'foot' 'flatfoot' SubClassOf 'skeletal system disease' http://www.ebi.ac.uk/efo/EFO_0001212 MDAMB415 'MDAMB415' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('mammary gland' and ('part_of' some 'Homo sapiens')))) 'MDAMB415' SubClassOf 'bearer_of' some 'breast carcinoma' http://www.ebi.ac.uk/efo/EFO_0002543 mouse prenatal 'mouse prenatal' SubClassOf 'has_participant' some 'Mus musculus' http://www.ebi.ac.uk/efo/EFO_0003871 tongue neoplasm 'tongue neoplasm' EquivalentTo 'neoplasm' and ('has_disease_location' some 'tongue') http://www.ebi.ac.uk/efo/EFO_0001211 MDAMB361 'MDAMB361' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('mammary gland' and ('part_of' some 'Homo sapiens')))) 'MDAMB361' SubClassOf 'bearer_of' some 'breast carcinoma' http://www.ebi.ac.uk/efo/EFO_0002542 obsolete_islet cell 'obsolete_islet cell' SubClassOf 'obsolete class' 'obsolete_islet cell' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003872 colitis 'colitis' SubClassOf 'digestive system disease' 'colitis' SubClassOf 'gastroenteritis' 'colitis' SubClassOf 'has_disease_location' some 'colon' 'colitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003409 'colitis' SubClassOf 'inflammatory bowel disease' http://www.ebi.ac.uk/efo/EFO_0001214 MDAMB436 'MDAMB436' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('mammary gland' and ('part_of' some 'Homo sapiens')))) 'MDAMB436' SubClassOf 'bearer_of' some 'breast carcinoma' http://www.ebi.ac.uk/efo/EFO_0002545 obsolete_endoderm 'obsolete_endoderm' SubClassOf 'obsolete class' 'obsolete_endoderm' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003877 sleep apnea 'sleep apnea' SubClassOf 'Sleep Disorder' 'sleep apnea' SubClassOf 'respiratory system disease' 'sleep apnea' SubClassOf 'Sleep Disorder' 'sleep apnea' SubClassOf 'respiratory system disease' http://www.ebi.ac.uk/efo/EFO_0001213 MDAMB435 'MDAMB435' SubClassOf 'bearer_of' some 'melanoma' 'MDAMB435' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('zone of skin' and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_0003878 urethritis 'urethritis' SubClassOf 'bacterial disease' 'urethritis' SubClassOf 'has_disease_location' some 'urethra' 'urethritis' SubClassOf 'urinary tract infection' 'urethritis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021166 'urethritis' SubClassOf 'urethral disease' http://www.ebi.ac.uk/efo/EFO_0001216 MDAMB468 'MDAMB468' SubClassOf 'bearer_of' some 'breast carcinoma' 'MDAMB468' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('mammary gland' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003875 peripheral vascular disease 'peripheral vascular disease' SubClassOf 'vascular disease' 'peripheral vascular disease' SubClassOf 'vascular disease' http://www.ebi.ac.uk/efo/EFO_0001215 MDAMB453 'MDAMB453' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('mammary gland' and ('part_of' some 'Homo sapiens')))) 'MDAMB453' SubClassOf 'bearer_of' some 'breast carcinoma' http://www.ebi.ac.uk/efo/EFO_0003876 intermittent vascular claudication 'intermittent vascular claudication' SubClassOf 'peripheral vascular disease' 'intermittent vascular claudication' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002277 'intermittent vascular claudication' SubClassOf 'has_disease_location' some ('leg' or ('part_of' some 'leg')) 'intermittent vascular claudication' SubClassOf 'peripheral vascular disease' http://www.ebi.ac.uk/efo/EFO_0001218 Met5A 'Met5A' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('organism part' and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_0002549 obsolete_vagus nerve 'obsolete_vagus nerve' SubClassOf 'obsolete class' 'obsolete_vagus nerve' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002548 obsolete_endothelium 'obsolete_endothelium' SubClassOf 'obsolete class' 'obsolete_endothelium' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003879 obsolete_aortic valve 'obsolete_aortic valve' SubClassOf 'obsolete class' 'obsolete_aortic valve' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_9 Tetrasomy X 'Tetrasomy X' SubClassOf 'Non-acquired premature ovarian failure' 'Tetrasomy X' SubClassOf 'Rare female infertility due to an anomaly of ovarian function of genetic origin' 'Tetrasomy X' SubClassOf 'Polysomy of X chromosome' 'Tetrasomy X' SubClassOf 'Non-acquired premature ovarian failure' 'Tetrasomy X' SubClassOf 'Rare female infertility due to an anomaly of ovarian function of genetic origin' 'Tetrasomy X' SubClassOf 'Polysomy of X chromosome' 'Tetrasomy X' SubClassOf http://purl.obolibrary.org/obo/MONDO_0030502 http://www.ebi.ac.uk/efo/EFO_0001219 MM1 'MM1' SubClassOf 'cancer cell line' 'MM1' SubClassOf 'bearer_of' some 'multiple myeloma' 'MM1' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'organism')))) 'MM1' SubClassOf 'lymphoma or leukaemia cell line' http://purl.obolibrary.org/obo/UBERON_0035814 pericardial fat 'pericardial fat' SubClassOf 'adipose tissue' 'pericardial fat' SubClassOf http://purl.obolibrary.org/obo/UBERON_0035818 http://www.orpha.net/ORDO/Orphanet_869 Triple A syndrome 'Triple A syndrome' SubClassOf 'Rare hereditary disease with peripheral neuropathy' 'Triple A syndrome' SubClassOf 'Congenital alacrima' 'Triple A syndrome' SubClassOf 'Genetic syndromic esophageal malformation' 'Triple A syndrome' SubClassOf 'Genetic chronic primary adrenal insufficiency' 'Triple A syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Triple A syndrome' SubClassOf 'Congenital alacrima' 'Triple A syndrome' SubClassOf 'Rare hereditary disease with peripheral neuropathy' 'Triple A syndrome' SubClassOf 'Genetic syndromic esophageal malformation' 'Triple A syndrome' SubClassOf 'Genetic chronic primary adrenal insufficiency' 'Triple A syndrome' SubClassOf 'autosomal recessive disease' http://www.orpha.net/ORDO/Orphanet_868 Triose phosphate-isomerase deficiency 'Triose phosphate-isomerase deficiency' SubClassOf 'Neurometabolic disease' 'Triose phosphate-isomerase deficiency' SubClassOf 'Disorder of glycolysis' 'Triose phosphate-isomerase deficiency' SubClassOf 'Hemolytic anemia due to a disorder of glycolytic enzymes' 'Triose phosphate-isomerase deficiency' SubClassOf 'Cerebral organic aciduria' 'Triose phosphate-isomerase deficiency' SubClassOf 'glucose metabolism disease' 'Triose phosphate-isomerase deficiency' SubClassOf 'Neurometabolic disease' 'Triose phosphate-isomerase deficiency' SubClassOf 'Disorder of glycolysis' 'Triose phosphate-isomerase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016401 'Triose phosphate-isomerase deficiency' SubClassOf 'Hemolytic anemia due to a disorder of glycolytic enzymes' 'Triose phosphate-isomerase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003689 http://www.orpha.net/ORDO/Orphanet_867 Familial multiple trichoepithelioma 'Familial multiple trichoepithelioma' SubClassOf 'Brooke-Spiegler syndrome' 'Familial multiple trichoepithelioma' SubClassOf 'Brooke-Spiegler syndrome' http://www.orpha.net/ORDO/Orphanet_888 Van der Woude syndrome 'Van der Woude syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Van der Woude syndrome' SubClassOf 'Syndrome or malformation associated with head and neck malformations' 'Van der Woude syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Van der Woude syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Van der Woude syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 'Van der Woude syndrome' SubClassOf 'Syndrome or malformation associated with head and neck malformations' http://www.orpha.net/ORDO/Orphanet_887 VACTERL/VATER association 'VACTERL/VATER association' SubClassOf 'Syndromic anorectal malformation' 'VACTERL/VATER association' SubClassOf 'Syndromic renal or urinary tract malformation' 'VACTERL/VATER association' SubClassOf 'Genetic syndromic esophageal malformation' 'VACTERL/VATER association' SubClassOf 'Syndromic anorectal malformation' 'VACTERL/VATER association' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015161 'VACTERL/VATER association' SubClassOf 'Syndromic renal or urinary tract malformation' http://www.orpha.net/ORDO/Orphanet_886 Usher syndrome 'Usher syndrome' SubClassOf 'Syndromic genetic deafness' 'Usher syndrome' SubClassOf 'Syndromic retinitis pigmentosa' 'Usher syndrome' SubClassOf 'autosomal recessive disease' 'Usher syndrome' SubClassOf 'has_disease_location' some 'cilium' 'Usher syndrome' SubClassOf 'Syndromic genetic deafness' 'Usher syndrome' SubClassOf 'Syndromic retinitis pigmentosa' http://www.orpha.net/ORDO/Orphanet_884 Tetrasomy 12p 'Tetrasomy 12p' SubClassOf 'Syndromic anorectal malformation' 'Tetrasomy 12p' SubClassOf 'Partial trisomy/tetrasomy of the short arm of chromosome 12' 'Tetrasomy 12p' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015216 'Tetrasomy 12p' SubClassOf http://purl.obolibrary.org/obo/MONDO_0030502 'Tetrasomy 12p' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019717 'Tetrasomy 12p' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015880 'Tetrasomy 12p' SubClassOf 'Syndromic anorectal malformation' 'Tetrasomy 12p' SubClassOf 'Partial trisomy/tetrasomy of the short arm of chromosome 12' 'Tetrasomy 12p' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015652 http://www.orpha.net/ORDO/Orphanet_228426 Syndromic multisystem autoimmune disease due to Itch deficiency 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf 'Immunodeficiency syndrome with autoimmunity' 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf 'Genetic intractable diarrhea of infancy' 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf 'malabsorption syndrome' 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000568 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf 'Immunodeficiency syndrome with autoimmunity' 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf 'Genetic intractable diarrhea of infancy' 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015118 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019787 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015939 http://www.ebi.ac.uk/efo/EFO_0001241 SUM159PT 'SUM159PT' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('mammary gland' and ('part_of' some 'Homo sapiens')))) 'SUM159PT' SubClassOf 'bearer_of' some 'breast carcinoma' http://www.orpha.net/ORDO/Orphanet_228423 Monocytopenia with susceptibility to infections 'Monocytopenia with susceptibility to infections' SubClassOf http://purl.obolibrary.org/obo/MONDO_0042982 'Monocytopenia with susceptibility to infections' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015133 http://www.orpha.net/ORDO/Orphanet_882 Tyrosinemia type 1 'Tyrosinemia type 1' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Tyrosinemia type 1' SubClassOf 'Disorder of tyrosine metabolism' 'Tyrosinemia type 1' SubClassOf 'Rare hereditary metabolic disease with peripheral neuropathy' 'Tyrosinemia type 1' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'Tyrosinemia type 1' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Tyrosinemia type 1' SubClassOf 'Rare hereditary metabolic disease with peripheral neuropathy' 'Tyrosinemia type 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004741 'Tyrosinemia type 1' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' http://www.ebi.ac.uk/efo/EFO_0001240 SUM149PT 'SUM149PT' SubClassOf 'bearer_of' some 'breast carcinoma' 'SUM149PT' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('mammary gland' and ('part_of' some 'Homo sapiens')))) http://www.orpha.net/ORDO/Orphanet_881 Turner syndrome 'Turner syndrome' SubClassOf 'Syndromic urogenital tract malformation' 'Turner syndrome' SubClassOf 'X chromosome number anomaly with female phenotype' 'Turner syndrome' SubClassOf 'Syndrome with disorder of sex development of gynecological interest' 'Turner syndrome' SubClassOf 'Female infertility due to gonadal dysgenesis' 'Turner syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Turner syndrome' SubClassOf 'Syndromic epicanthus' 'Turner syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Turner syndrome' SubClassOf 'Non-acquired premature ovarian failure' 'Turner syndrome' SubClassOf 'Sex chromosome disorder of sex development' 'Turner syndrome' SubClassOf 'Syndromic urogenital tract malformation' 'Turner syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018792 'Turner syndrome' SubClassOf 'X chromosome number anomaly with female phenotype' 'Turner syndrome' SubClassOf 'Syndrome with disorder of sex development of gynecological interest' 'Turner syndrome' SubClassOf 'Female infertility due to gonadal dysgenesis' 'Turner syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Turner syndrome' SubClassOf 'Syndromic epicanthus' 'Turner syndrome' SubClassOf 'Non-acquired premature ovarian failure' 'Turner syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Turner syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020226 'Turner syndrome' SubClassOf 'Sex chromosome disorder of sex development' 'Turner syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001967 http://www.ebi.ac.uk/efo/EFO_0001243 SUM190PT 'SUM190PT' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('mammary gland' and ('part_of' some 'Homo sapiens')))) 'SUM190PT' SubClassOf 'bearer_of' some 'breast carcinoma' http://www.ebi.ac.uk/efo/EFO_0002574 obsolete_definitive endoderm 'obsolete_definitive endoderm' SubClassOf 'obsolete class' 'obsolete_definitive endoderm' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_228429 Generalized congenital lipodystrophy with myopathy 'Generalized congenital lipodystrophy with myopathy' SubClassOf 'Genetic cardiac rhythm disease' 'Generalized congenital lipodystrophy with myopathy' SubClassOf 'Genetic lipodystrophy' 'Generalized congenital lipodystrophy with myopathy' SubClassOf 'Non-dystrophic myopathy' 'Generalized congenital lipodystrophy with myopathy' SubClassOf 'Rare insulin-resistance syndrome' 'Generalized congenital lipodystrophy with myopathy' SubClassOf 'Genetic cardiac rhythm disease' 'Generalized congenital lipodystrophy with myopathy' SubClassOf 'congenital generalized lipodystrophy' 'Generalized congenital lipodystrophy with myopathy' SubClassOf 'Non-dystrophic myopathy' 'Generalized congenital lipodystrophy with myopathy' SubClassOf 'Rare insulin-resistance syndrome' http://www.ebi.ac.uk/efo/EFO_0001242 SUM185PE 'SUM185PE' SubClassOf 'bearer_of' some 'breast carcinoma' 'SUM185PE' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('mammary gland' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0001245 SUM44PE 'SUM44PE' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('mammary gland' and ('part_of' some 'Homo sapiens')))) 'SUM44PE' SubClassOf 'bearer_of' some 'breast carcinoma' http://www.ebi.ac.uk/efo/EFO_0001244 SUM225CWN 'SUM225CWN' SubClassOf 'bearer_of' some 'breast carcinoma' 'SUM225CWN' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('mammary gland' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0001247 T47D 'T47D' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('mammary gland' and ('part_of' some 'Homo sapiens')))) 'T47D' SubClassOf 'bearer_of' some 'breast carcinoma' http://www.ebi.ac.uk/efo/EFO_0001246 SUM52PE 'SUM52PE' SubClassOf 'bearer_of' some 'breast carcinoma' 'SUM52PE' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('mammary gland' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0001249 TERV 'TERV' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('kidney' and ('part_of' some 'organism')))) http://www.orpha.net/ORDO/Orphanet_216445 Prelingual non-syndromic genetic deafness 'Prelingual non-syndromic genetic deafness' SubClassOf 'Non-syndromic genetic deafness' 'Prelingual non-syndromic genetic deafness' SubClassOf 'Non-syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_228410 Polyvalvular heart disease syndrome 'Polyvalvular heart disease syndrome' SubClassOf 'Malformation syndrome with connective tissue involvement' 'Polyvalvular heart disease syndrome' SubClassOf 'Rare syndrome with cardiac malformations' 'Polyvalvular heart disease syndrome' SubClassOf 'Malformation syndrome with connective tissue involvement' 'Polyvalvular heart disease syndrome' SubClassOf 'Rare syndrome with cardiac malformations' 'Polyvalvular heart disease syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007 http://www.orpha.net/ORDO/Orphanet_899 Walker-Warburg syndrome 'Walker-Warburg syndrome' SubClassOf 'Congenital vitreoretinal dysplasia' 'Walker-Warburg syndrome' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' 'Walker-Warburg syndrome' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'Walker-Warburg syndrome' SubClassOf 'Congenital disorder of glycosylation with developmental anomaly' 'Walker-Warburg syndrome' SubClassOf 'Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase' 'Walker-Warburg syndrome' SubClassOf 'Disorder of O-mannosylglycan synthesis' 'Walker-Warburg syndrome' SubClassOf 'Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies' 'Walker-Warburg syndrome' SubClassOf 'Qualitative or quantitative defects of fukutin' 'Walker-Warburg syndrome' SubClassOf 'Qualitative or quantitative defects of protein O-mannosyltransferase 1' 'Walker-Warburg syndrome' SubClassOf 'Qualitative or quantitative defects of FKRP' 'Walker-Warburg syndrome' SubClassOf 'Qualitative or quantitative defects of protein O-mannosyltransferase 2' 'Walker-Warburg syndrome' SubClassOf 'Congenital vitreoretinal dysplasia' 'Walker-Warburg syndrome' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' 'Walker-Warburg syndrome' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'Walker-Warburg syndrome' SubClassOf 'Congenital disorder of glycosylation with developmental anomaly' 'Walker-Warburg syndrome' SubClassOf 'Disorder of O-mannosylglycan synthesis' 'Walker-Warburg syndrome' SubClassOf 'Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase' 'Walker-Warburg syndrome' SubClassOf 'Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies' 'Walker-Warburg syndrome' SubClassOf 'Qualitative or quantitative defects of fukutin' 'Walker-Warburg syndrome' SubClassOf 'Qualitative or quantitative defects of protein O-mannosyltransferase 1' 'Walker-Warburg syndrome' SubClassOf 'Qualitative or quantitative defects of FKRP' 'Walker-Warburg syndrome' SubClassOf 'Myopathy with eye involvement' 'Walker-Warburg syndrome' SubClassOf 'Qualitative or quantitative defects of protein O-mannosyltransferase 2' http://www.orpha.net/ORDO/Orphanet_898 Wagner disease 'Wagner disease' SubClassOf 'Vitreoretinal degeneration' 'Wagner disease' SubClassOf 'Syndromic myopia' 'Wagner disease' SubClassOf 'Vitreoretinal degeneration' 'Wagner disease' SubClassOf 'Syndromic myopia' http://www.orpha.net/ORDO/Orphanet_897 Waardenburg-Shah syndrome 'Waardenburg-Shah syndrome' SubClassOf 'Genetic hypopigmentation of the skin' 'Waardenburg-Shah syndrome' SubClassOf 'Syndromic genetic deafness' 'Waardenburg-Shah syndrome' SubClassOf 'Pigmentation disorder with eye involvement, excluding albinism' 'Waardenburg-Shah syndrome' SubClassOf 'Pigmentation disorder with eye involvement, excluding albinism' 'Waardenburg-Shah syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021635 'Waardenburg-Shah syndrome' SubClassOf 'Waardenburg syndrome' 'Waardenburg-Shah syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021189 http://www.orpha.net/ORDO/Orphanet_896 Waardenburg syndrome type 3 'Waardenburg syndrome type 3' SubClassOf 'Waardenburg syndrome' 'Waardenburg syndrome type 3' SubClassOf 'Waardenburg syndrome' http://www.ebi.ac.uk/efo/EFO_0003891 biliary tract neoplasm 'biliary tract neoplasm' SubClassOf 'has_disease_location' some 'liver' http://www.orpha.net/ORDO/Orphanet_895 Waardenburg syndrome type 2 'Waardenburg syndrome type 2' SubClassOf 'Waardenburg syndrome' 'Waardenburg syndrome type 2' SubClassOf 'Waardenburg syndrome' http://www.ebi.ac.uk/efo/EFO_0003892 pulmonary function measurement 'pulmonary function measurement' EquivalentTo 'is_about' some 'respiratory system' http://www.orpha.net/ORDO/Orphanet_228415 5q35 microduplication syndrome '5q35 microduplication syndrome' SubClassOf 'Partial trisomy of the long arm of chromosome 5' '5q35 microduplication syndrome' SubClassOf 'Partial trisomy of the long arm of chromosome 5' http://www.orpha.net/ORDO/Orphanet_894 Waardenburg syndrome type 1 'Waardenburg syndrome type 1' SubClassOf 'Waardenburg syndrome' 'Waardenburg syndrome type 1' SubClassOf 'Waardenburg syndrome' http://www.ebi.ac.uk/efo/EFO_0001230 R8 'R8' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'organism')))) 'R8' SubClassOf 'bearer_of' some 'glioblastoma multiforme' http://www.orpha.net/ORDO/Orphanet_893 WAGR syndrome 'WAGR syndrome' SubClassOf 'Partial deletion of the short arm of chromosome 11' 'WAGR syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'WAGR syndrome' SubClassOf 'Syndromic aniridia' 'WAGR syndrome' SubClassOf 'Syndromic obesity' 'WAGR syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'WAGR syndrome' SubClassOf 'Rare disease with glaucoma as a major feature' 'WAGR syndrome' SubClassOf 'Syndrome with disorder of sex development of gynecological interest' 'WAGR syndrome' SubClassOf 'Syndrome with 46,XY disorder of sex development' 'WAGR syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'WAGR syndrome' SubClassOf 'Partial deletion of the short arm of chromosome 11' 'WAGR syndrome' SubClassOf 'Inherited renal cancer-predisposing syndrome' 'WAGR syndrome' SubClassOf 'Syndromic aniridia' 'WAGR syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000761 'WAGR syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'WAGR syndrome' SubClassOf 'Syndromic obesity' 'WAGR syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'WAGR syndrome' SubClassOf 'Rare disease with glaucoma as a major feature' 'WAGR syndrome' SubClassOf 'Syndrome with disorder of sex development of gynecological interest' 'WAGR syndrome' SubClassOf 'Syndrome with 46,XY disorder of sex development' http://www.ebi.ac.uk/efo/EFO_0003890 drug dependence 'drug dependence' SubClassOf 'mental or behavioural disorder' 'drug dependence' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001423 'drug dependence' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004938 http://www.orpha.net/ORDO/Orphanet_892 Von Hippel-Lindau disease 'Von Hippel-Lindau disease' SubClassOf 'Malformation syndrome with hamartosis' 'Von Hippel-Lindau disease' SubClassOf 'Familial cystic renal disease' 'Von Hippel-Lindau disease' SubClassOf 'Multiple polyglandular tumor' 'Von Hippel-Lindau disease' SubClassOf 'Rare disease with glaucoma as a major feature' 'Von Hippel-Lindau disease' SubClassOf 'Inherited renal cancer-predisposing syndrome' 'Von Hippel-Lindau disease' SubClassOf 'Genetic central nervous system and retinal vascular disease' 'Von Hippel-Lindau disease' SubClassOf 'Syndromic developmental defect of the eye' 'Von Hippel-Lindau disease' SubClassOf 'kidney neoplasm' 'Von Hippel-Lindau disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016756 'Von Hippel-Lindau disease' SubClassOf 'Familial cystic renal disease' 'Von Hippel-Lindau disease' SubClassOf 'Malformation syndrome with hamartosis' 'Von Hippel-Lindau disease' SubClassOf 'Rare disease with glaucoma as a major feature' 'Von Hippel-Lindau disease' SubClassOf 'Multiple polyglandular tumor' 'Von Hippel-Lindau disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0042983 'Von Hippel-Lindau disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019116 'Von Hippel-Lindau disease' SubClassOf 'Genetic eye tumor' 'Von Hippel-Lindau disease' SubClassOf 'Inherited renal cancer-predisposing syndrome' 'Von Hippel-Lindau disease' SubClassOf 'Genetic central nervous system and retinal vascular disease' 'Von Hippel-Lindau disease' SubClassOf 'Syndromic developmental defect of the eye' http://www.ebi.ac.uk/efo/EFO_0001232 RKO 'RKO' SubClassOf 'cancer cell line' 'RKO' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('colon' and ('part_of' some 'organism')))) 'RKO' SubClassOf 'colorectal cancer cell line' 'RKO' SubClassOf 'bearer_of' some 'colorectal adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0003895 epistaxis 'epistaxis' SubClassOf 'cardiovascular disease' 'epistaxis' SubClassOf 'cardiovascular disease' 'epistaxis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002436 'epistaxis' SubClassOf 'has_disease_location' some 'olfactory apparatus' http://www.orpha.net/ORDO/Orphanet_228418 Microcephaly - seizures - developmental delay 'Microcephaly - seizures - developmental delay' SubClassOf 'Monogenic disease with epilepsy' 'Microcephaly - seizures - developmental delay' SubClassOf 'Early infantile epileptic encephalopathy' http://www.orpha.net/ORDO/Orphanet_891 Familial exudative vitreoretinopathy 'Familial exudative vitreoretinopathy' SubClassOf 'Genetic central nervous system and retinal vascular disease' 'Familial exudative vitreoretinopathy' SubClassOf 'Vitreoretinal degeneration' 'Familial exudative vitreoretinopathy' SubClassOf 'Vitreoretinal degeneration' 'Familial exudative vitreoretinopathy' SubClassOf 'Genetic central nervous system and retinal vascular disease' 'Familial exudative vitreoretinopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002311 http://www.ebi.ac.uk/efo/EFO_0001231 RAW264.7 'RAW264.7' SubClassOf 'derives_from' some ('macrophage' and ('part_of' some ('organism part' and ('part_of' some 'Mus musculus')))) http://www.ebi.ac.uk/efo/EFO_0003896 left ventricular hypertrophy 'left ventricular hypertrophy' SubClassOf 'inheres_in' some 'cardiac ventricle' http://www.ebi.ac.uk/efo/EFO_0001234 S49 'S49' SubClassOf 'bearer_of' some 'lymphoma' 'S49' SubClassOf 'derives_from' some ('T cell' and ('part_of' some ('organism part' and ('part_of' some 'Mus musculus')))) http://www.ebi.ac.uk/efo/EFO_0003893 ovarian neoplasm 'ovarian neoplasm' SubClassOf 'urogenital neoplasm' 'ovarian neoplasm' SubClassOf 'ovarian disease' 'ovarian neoplasm' SubClassOf 'ovarian disease' 'ovarian neoplasm' SubClassOf 'endocrine neoplasm' 'ovarian neoplasm' EquivalentTo 'neoplasm' and ('has_disease_location' some ('female gonad' or ('part_of' some 'female gonad'))) 'ovarian neoplasm' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021148 http://www.ebi.ac.uk/efo/EFO_0001233 S2 'S2' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Drosophila melanogaster')))) http://www.ebi.ac.uk/efo/EFO_0003894 acne 'acne' SubClassOf 'inflammatory skin disease' 'acne' SubClassOf 'has_disease_location' some 'zone of skin' 'acne' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 'acne' SubClassOf 'inflammatory skin disease' 'acne' SubClassOf 'sebaceous gland disease' 'acne' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002406 http://www.ebi.ac.uk/efo/EFO_0001236 SKBR3 'SKBR3' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('mammary gland' and ('part_of' some 'Homo sapiens')))) 'SKBR3' SubClassOf 'bearer_of' some 'breast carcinoma' http://www.ebi.ac.uk/efo/EFO_0003899 contracture 'contracture' SubClassOf 'muscular disease' 'contracture' SubClassOf 'muscular disease' http://www.ebi.ac.uk/efo/EFO_0003897 stomach neoplasm 'stomach neoplasm' EquivalentTo 'neoplasm' and ('has_disease_location' some ('stomach' or ('part_of' some 'stomach'))) http://www.ebi.ac.uk/efo/EFO_0001237 SKGT4 'SKGT4' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('esophagus' and ('part_of' some 'organism')))) 'SKGT4' SubClassOf 'bearer_of' some 'esophageal adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0003898 ankylosing spondylitis 'ankylosing spondylitis' SubClassOf 'spondyloarthropathy' 'ankylosing spondylitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003937 'ankylosing spondylitis' SubClassOf 'spondyloarthropathy' 'ankylosing spondylitis' SubClassOf 'vertebral joint disease' 'ankylosing spondylitis' SubClassOf 'rheumatoid arthritis' http://www.ebi.ac.uk/efo/EFO_1001905 Oxidative Stress 'Oxidative Stress' SubClassOf 'cellular metabolic process' 'Oxidative Stress' SubClassOf 'cellular metabolic process' http://www.ebi.ac.uk/efo/EFO_0001239 SUM1315MO2 'SUM1315MO2' SubClassOf 'bearer_of' some 'breast carcinoma' 'SUM1315MO2' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('mammary gland' and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_1001904 oral mucositis 'oral mucositis' SubClassOf 'mucositis' 'oral mucositis' SubClassOf 'mucositis' 'oral mucositis' SubClassOf 'inheres_in' some ('head' or ('part_of' some 'head')) http://www.ebi.ac.uk/efo/EFO_1001903 nosophobia 'nosophobia' SubClassOf 'specific phobia' 'nosophobia' SubClassOf 'specific phobia' http://www.ebi.ac.uk/efo/EFO_1001902 neuromuscular disease 'neuromuscular disease' SubClassOf 'neuropathy' 'neuromuscular disease' SubClassOf 'peripheral neuropathy' 'neuromuscular disease' SubClassOf 'neuropathy' http://www.ebi.ac.uk/efo/EFO_1001901 neuroendocrine neoplasm 'neuroendocrine neoplasm' SubClassOf 'endocrine neoplasm' 'neuroendocrine neoplasm' SubClassOf 'disease has feature' some 'dysentery' 'neuroendocrine neoplasm' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002082 'neuroendocrine neoplasm' SubClassOf 'endocrine neoplasm' http://www.ebi.ac.uk/efo/EFO_1001900 myoclonic epilepsy 'myoclonic epilepsy' SubClassOf 'epilepsy' 'myoclonic epilepsy' SubClassOf 'epilepsy' http://www.ebi.ac.uk/efo/EFO_1001909 Plantar Fasciitis 'Plantar Fasciitis' SubClassOf 'Fasciitis' 'Plantar Fasciitis' SubClassOf 'Fasciitis' http://www.ebi.ac.uk/efo/EFO_1001908 phobic disorder 'phobic disorder' SubClassOf 'anxiety disorder' 'phobic disorder' SubClassOf 'anxiety disorder' http://www.ebi.ac.uk/efo/EFO_1001907 panic disorder without agoraphobia 'panic disorder without agoraphobia' SubClassOf 'panic disorder' 'panic disorder without agoraphobia' SubClassOf 'panic disorder' http://www.ebi.ac.uk/efo/EFO_1001906 panic disorder with agoraphobia 'panic disorder with agoraphobia' SubClassOf 'panic disorder' 'panic disorder with agoraphobia' SubClassOf 'agoraphobia' 'panic disorder with agoraphobia' SubClassOf 'panic disorder' 'panic disorder with agoraphobia' EquivalentTo 'panic disorder' and 'agoraphobia' http://purl.obolibrary.org/obo/CHEBI_67249 N-acetylcarnosine 'N-acetylcarnosine' SubClassOf 'chemical entity' 'N-acetylcarnosine' SubClassOf 'chemical entity' http://www.ebi.ac.uk/efo/EFO_0001261 ZF4 'ZF4' SubClassOf 'derives_from' some ('fibroblast' and ('part_of' some ('organism part' and ('part_of' some 'Danio rerio')))) http://www.ebi.ac.uk/efo/EFO_0001260 WI38 'WI38' SubClassOf 'bearer_of' some 'normal' 'WI38' SubClassOf 'derives_from' some ('fibroblast' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0001263 ZR7530 'ZR7530' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('mammary gland' and ('part_of' some 'Homo sapiens')))) 'ZR7530' SubClassOf 'bearer_of' some 'breast carcinoma' http://www.ebi.ac.uk/efo/EFO_0001262 ZR751 'ZR751' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('mammary gland' and ('part_of' some 'Homo sapiens')))) 'ZR751' SubClassOf 'bearer_of' some 'breast carcinoma' http://www.ebi.ac.uk/efo/EFO_0001265 obsolete_female 'obsolete_female' SubClassOf 'obsolete class' 'obsolete_female' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002596 obsolete_carotid artery endothelium 'obsolete_carotid artery endothelium' SubClassOf 'obsolete class' 'obsolete_carotid artery endothelium' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001264 ZR75B 'ZR75B' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('mammary gland' and ('part_of' some 'Homo sapiens')))) 'ZR75B' SubClassOf 'bearer_of' some 'breast carcinoma' http://www.ebi.ac.uk/efo/EFO_0002595 obsolete_renal branch of vagus nerve 'obsolete_renal branch of vagus nerve' SubClassOf 'obsolete class' 'obsolete_renal branch of vagus nerve' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001267 obsolete_hermaphrodite 'obsolete_hermaphrodite' SubClassOf 'obsolete class' 'obsolete_hermaphrodite' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002598 obsolete_distal portion of anterior interventricular branch of left coronary artery 'obsolete_distal portion of anterior interventricular branch of left coronary artery' SubClassOf 'obsolete class' 'obsolete_distal portion of anterior interventricular branch of left coronary artery' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001266 obsolete_male 'obsolete_male' SubClassOf 'obsolete class' 'obsolete_male' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002597 obsolete_aorta endothelium 'obsolete_aorta endothelium' SubClassOf 'obsolete class' 'obsolete_aorta endothelium' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002599 obsolete_distal portion of circumflex branch of left coronary artery 'obsolete_distal portion of circumflex branch of left coronary artery' SubClassOf 'obsolete class' 'obsolete_distal portion of circumflex branch of left coronary artery' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001916 separation anxiety disorder 'separation anxiety disorder' SubClassOf 'anxiety disorder' 'separation anxiety disorder' SubClassOf 'anxiety disorder' http://www.ebi.ac.uk/efo/EFO_1001915 obsolete_Renal nutcracker syndrome 'obsolete_Renal nutcracker syndrome' SubClassOf 'obsolete class' 'obsolete_Renal nutcracker syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001914 radiation-induced gastrointestinal mucositis 'radiation-induced gastrointestinal mucositis' SubClassOf 'gastrointestinal mucositis' 'radiation-induced gastrointestinal mucositis' SubClassOf 'gastrointestinal mucositis' 'radiation-induced gastrointestinal mucositis' SubClassOf 'inheres_in' some ('digestive system' or ('part_of' some 'digestive system')) http://www.ebi.ac.uk/efo/EFO_1001913 Purpura Fulminans 'Purpura Fulminans' SubClassOf 'Purpura' 'Purpura Fulminans' SubClassOf 'Purpura' http://www.ebi.ac.uk/efo/EFO_1001911 pulmonary nodular amyloidosis 'pulmonary nodular amyloidosis' SubClassOf 'pulmonary amyloidosis' 'pulmonary nodular amyloidosis' SubClassOf 'has_disease_location' some ('lung' or ('part_of' some 'lung')) 'pulmonary nodular amyloidosis' SubClassOf 'pulmonary amyloidosis' http://www.ebi.ac.uk/efo/EFO_1001910 pulmonary amyloidosis 'pulmonary amyloidosis' SubClassOf 'lung disease' 'pulmonary amyloidosis' SubClassOf 'has_disease_location' some ('lung' or ('part_of' some 'lung')) 'pulmonary amyloidosis' SubClassOf 'lung disease' http://www.ebi.ac.uk/efo/EFO_1001919 Spinal cord injury 'Spinal cord injury' SubClassOf 'nervous system injury' 'Spinal cord injury' SubClassOf 'nervous system injury' http://www.ebi.ac.uk/efo/EFO_1001918 specific phobia 'specific phobia' SubClassOf 'phobic disorder' 'specific phobia' SubClassOf 'Rare genetic neurological disorder' 'specific phobia' SubClassOf 'phobic disorder' http://www.ebi.ac.uk/efo/EFO_1001917 social anxiety disorder 'social anxiety disorder' SubClassOf 'phobic disorder' 'social anxiety disorder' SubClassOf 'phobic disorder' http://www.ebi.ac.uk/efo/EFO_0001250 TERV-AntiSenseB56 'TERV-AntiSenseB56' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('kidney' and ('part_of' some 'organism')))) http://www.orpha.net/ORDO/Orphanet_254746 Pyruvate metabolism disorder 'Pyruvate metabolism disorder' SubClassOf 'Disorder of energy metabolism' 'Pyruvate metabolism disorder' SubClassOf 'Organic aciduria' 'Pyruvate metabolism disorder' SubClassOf 'Disorder of energy metabolism' http://purl.obolibrary.org/obo/CHEBI_68568 O-adipoylcarnitine 'O-adipoylcarnitine' SubClassOf 'chemical entity' 'O-adipoylcarnitine' SubClassOf 'chemical entity' http://www.ebi.ac.uk/efo/EFO_0001252 TERV-ST110 'TERV-ST110' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('kidney' and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_0001251 TERV-ST 'TERV-ST' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('kidney' and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_0001254 U266 'U266' SubClassOf 'cancer cell line' 'U266' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'organism')))) 'U266' SubClassOf 'lymphoma or leukaemia cell line' 'U266' SubClassOf 'has_quality' some 'male' 'U266' SubClassOf 'bearer_of' some 'multiple myeloma' http://www.ebi.ac.uk/efo/EFO_0001253 THP-1 'THP-1' SubClassOf 'bearer_of' some 'acute monocytic leukemia' 'THP-1' SubClassOf 'derives_from' some ('monocyte' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0001256 obsolete_U87 'obsolete_U87' SubClassOf 'obsolete class' 'obsolete_U87' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001255 U373 'U373' SubClassOf 'bearer_of' some 'glioblastoma multiforme' 'U373' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('organism part' and ('part_of' some 'organism')))) http://purl.obolibrary.org/obo/CHEBI_68561 N-acetyltyrosine 'N-acetyltyrosine' SubClassOf 'chemical entity' 'N-acetyltyrosine' SubClassOf 'chemical entity' http://www.ebi.ac.uk/efo/EFO_0001258 UACC812 'UACC812' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('mammary gland' and ('part_of' some 'Homo sapiens')))) 'UACC812' SubClassOf 'bearer_of' some 'breast carcinoma' http://www.ebi.ac.uk/efo/EFO_0001257 U937 'U937' SubClassOf 'bearer_of' some 'lymphoma' 'U937' SubClassOf 'derives_from' some ('monocyte' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0001259 UBOC1 'UBOC1' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('spiral organ of cochlea' and ('part_of' some 'Mus musculus')))) http://www.ebi.ac.uk/efo/EFO_1001927 cutaneous squamous cell carcinoma 'cutaneous squamous cell carcinoma' SubClassOf 'has_disease_location' some 'skin of body' http://www.ebi.ac.uk/efo/EFO_1001926 pathological gambling 'pathological gambling' SubClassOf 'is_about' some 'gambling behaviour' 'pathological gambling' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001162 'pathological gambling' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_216452 Postlingual non-syndromic genetic deafness 'Postlingual non-syndromic genetic deafness' SubClassOf 'Non-syndromic genetic deafness' 'Postlingual non-syndromic genetic deafness' SubClassOf 'Non-syndromic genetic deafness' http://www.ebi.ac.uk/efo/EFO_1001923 varicose ulcer 'varicose ulcer' SubClassOf 'Varicose veins' 'varicose ulcer' SubClassOf 'Varicose veins' http://www.ebi.ac.uk/efo/EFO_1001922 tracheobronchial amyloidosis 'tracheobronchial amyloidosis' SubClassOf 'pulmonary amyloidosis' 'tracheobronchial amyloidosis' SubClassOf 'pulmonary amyloidosis' http://www.orpha.net/ORDO/Orphanet_240103 Progressive supranuclear palsy - corticobasal syndrome 'Progressive supranuclear palsy - corticobasal syndrome' SubClassOf 'Atypical progressive supranuclear palsy' 'Progressive supranuclear palsy - corticobasal syndrome' SubClassOf 'Atypical progressive supranuclear palsy' http://www.ebi.ac.uk/efo/EFO_1001920 stress-induced anxiety-like behavior 'stress-induced anxiety-like behavior' SubClassOf 'behavior' 'stress-induced anxiety-like behavior' SubClassOf 'behavior' http://www.ebi.ac.uk/efo/EFO_1001929 selective IgA deficiency disease 'selective IgA deficiency disease' SubClassOf 'immune system disease' 'selective IgA deficiency disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001342 http://www.orpha.net/ORDO/Orphanet_179006 Primary immunodeficiency due to a defect in adaptive immunity 'Primary immunodeficiency due to a defect in adaptive immunity' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003778 'Primary immunodeficiency due to a defect in adaptive immunity' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://www.ebi.ac.uk/efo/EFO_1001928 small intestine neuroendocrine tumor 'small intestine neuroendocrine tumor' SubClassOf 'neuroendocrine neoplasm' 'small intestine neuroendocrine tumor' SubClassOf 'has_disease_location' some ('small intestine' or ('part_of' some 'small intestine')) 'small intestine neuroendocrine tumor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018539 'small intestine neuroendocrine tumor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002883 http://www.ebi.ac.uk/efo/EFO_0001282 obsolete_blastula stage 'obsolete_blastula stage' SubClassOf 'obsolete class' 'obsolete_blastula stage' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001930 idiopathic osteonecrosis of the femoral head 'idiopathic osteonecrosis of the femoral head' SubClassOf 'has_disease_location' some 'femur' http://www.ebi.ac.uk/efo/EFO_1001938 B-cell non-Hodgkins lymphoma 'B-cell non-Hodgkins lymphoma' SubClassOf 'non-Hodgkins lymphoma' 'B-cell non-Hodgkins lymphoma' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0004095 and 'non-Hodgkins lymphoma' 'B-cell non-Hodgkins lymphoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004095 'B-cell non-Hodgkins lymphoma' SubClassOf 'non-Hodgkins lymphoma' 'B-cell non-Hodgkins lymphoma' SubClassOf 'has_disease_location' some ('lymphatic part of lymphoid system' or ('part_of' some 'lymphatic part of lymphoid system')) http://www.ebi.ac.uk/efo/EFO_1000606 Undifferentiated Pancreatic Carcinoma 'Undifferentiated Pancreatic Carcinoma' SubClassOf 'pancreatic ductal adenocarcinoma' 'Undifferentiated Pancreatic Carcinoma' SubClassOf 'undifferentiated carcinoma' 'Undifferentiated Pancreatic Carcinoma' SubClassOf 'has_disease_location' some ('pancreas' or ('part_of' some 'pancreas')) 'Undifferentiated Pancreatic Carcinoma' SubClassOf 'pancreatic ductal adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_1000607 Undifferentiated Pancreatic Carcinoma with Osteoclast-Like Giant Cells 'Undifferentiated Pancreatic Carcinoma with Osteoclast-Like Giant Cells' SubClassOf 'pancreatic ductal adenocarcinoma' 'Undifferentiated Pancreatic Carcinoma with Osteoclast-Like Giant Cells' SubClassOf 'Undifferentiated Pancreatic Carcinoma' 'Undifferentiated Pancreatic Carcinoma with Osteoclast-Like Giant Cells' SubClassOf 'pancreatic ductal adenocarcinoma' 'Undifferentiated Pancreatic Carcinoma with Osteoclast-Like Giant Cells' SubClassOf 'has_disease_location' some ('pancreas' or ('part_of' some 'pancreas')) http://www.ebi.ac.uk/efo/EFO_1001937 amelanotic melanoma 'amelanotic melanoma' SubClassOf 'melanoma' 'amelanotic melanoma' SubClassOf 'has_disease_location' some ('skin of body' or ('part_of' some 'skin of body')) 'amelanotic melanoma' SubClassOf 'melanoma' http://www.ebi.ac.uk/efo/EFO_1000604 Undifferentiated Gallbladder Carcinoma 'Undifferentiated Gallbladder Carcinoma' SubClassOf 'gallbladder disease' 'Undifferentiated Gallbladder Carcinoma' SubClassOf 'undifferentiated carcinoma' 'Undifferentiated Gallbladder Carcinoma' SubClassOf 'gallbladder neoplasm' 'Undifferentiated Gallbladder Carcinoma' SubClassOf 'gallbladder carcinoma' 'Undifferentiated Gallbladder Carcinoma' SubClassOf 'has_disease_location' some ('gallbladder' or ('part_of' some 'gallbladder')) 'Undifferentiated Gallbladder Carcinoma' SubClassOf 'undifferentiated carcinoma' 'Undifferentiated Gallbladder Carcinoma' SubClassOf 'gallbladder neoplasm' http://www.ebi.ac.uk/efo/EFO_1001936 adult T acute lymphoblastic leukemia 'adult T acute lymphoblastic leukemia' SubClassOf 'T-cell acute lymphoblastic leukemia' 'adult T acute lymphoblastic leukemia' SubClassOf 'has_disease_location' some ('blood' or ('part_of' some 'blood')) 'adult T acute lymphoblastic leukemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003541 'adult T acute lymphoblastic leukemia' SubClassOf 'T-cell acute lymphoblastic leukemia' 'adult T acute lymphoblastic leukemia' SubClassOf 'T-cell leukemia' http://www.ebi.ac.uk/efo/EFO_1000605 Undifferentiated Ovarian Carcinoma 'Undifferentiated Ovarian Carcinoma' SubClassOf 'ovarian carcinoma' 'Undifferentiated Ovarian Carcinoma' SubClassOf 'undifferentiated carcinoma' 'Undifferentiated Ovarian Carcinoma' SubClassOf 'ovarian carcinoma' 'Undifferentiated Ovarian Carcinoma' SubClassOf 'has_disease_location' some ('female gonad' or ('part_of' some 'female gonad')) 'Undifferentiated Ovarian Carcinoma' SubClassOf 'undifferentiated carcinoma' http://www.ebi.ac.uk/efo/EFO_1001935 adult B acute lymphoblastic leukemia 'adult B acute lymphoblastic leukemia' SubClassOf 'B-cell acute lymphoblastic leukemia' 'adult B acute lymphoblastic leukemia' SubClassOf 'cardiovascular disease' 'adult B acute lymphoblastic leukemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003660 'adult B acute lymphoblastic leukemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003541 'adult B acute lymphoblastic leukemia' SubClassOf 'childhood B acute lymphoblastic leukemia' 'adult B acute lymphoblastic leukemia' SubClassOf 'has_disease_location' some ('blood' or ('part_of' some 'blood')) 'adult B acute lymphoblastic leukemia' SubClassOf 'B-cell acute lymphoblastic leukemia' http://www.ebi.ac.uk/efo/EFO_1000602 Transitional Meningioma 'Transitional Meningioma' SubClassOf 'Meningioma' 'Transitional Meningioma' SubClassOf 'Meningioma' 'Transitional Meningioma' SubClassOf 'has_disease_location' some ('meninx' or ('part_of' some 'meninx')) http://www.ebi.ac.uk/efo/EFO_1001934 adult acute myeloid leukemia 'adult acute myeloid leukemia' SubClassOf 'acute myeloid leukemia' 'adult acute myeloid leukemia' SubClassOf 'has_disease_location' some ('blood' or ('part_of' some 'blood')) 'adult acute myeloid leukemia' SubClassOf 'acute myeloid leukemia' http://www.ebi.ac.uk/efo/EFO_1000603 Unclassified Renal Cell Carcinoma 'Unclassified Renal Cell Carcinoma' SubClassOf 'renal cell carcinoma' 'Unclassified Renal Cell Carcinoma' SubClassOf 'renal cell adenocarcinoma' 'Unclassified Renal Cell Carcinoma' SubClassOf 'renal cell carcinoma' 'Unclassified Renal Cell Carcinoma' SubClassOf 'has_disease_location' some ('kidney' or ('part_of' some 'kidney')) http://www.ebi.ac.uk/efo/EFO_1001933 adult acute monocytic leukemia 'adult acute monocytic leukemia' SubClassOf 'acute monocytic leukemia' 'adult acute monocytic leukemia' SubClassOf 'has_disease_location' some ('blood' or ('part_of' some 'blood')) 'adult acute monocytic leukemia' SubClassOf 'acute monocytic leukemia' http://www.ebi.ac.uk/efo/EFO_1000600 Tracheal Squamous Cell Carcinoma 'Tracheal Squamous Cell Carcinoma' SubClassOf 'respiratory system neoplasm' 'Tracheal Squamous Cell Carcinoma' SubClassOf 'squamous cell carcinoma' 'Tracheal Squamous Cell Carcinoma' SubClassOf 'Tracheal Carcinoma' 'Tracheal Squamous Cell Carcinoma' SubClassOf 'has_disease_location' some ('trachea' or ('part_of' some 'trachea')) 'Tracheal Squamous Cell Carcinoma' SubClassOf 'squamous cell carcinoma' http://www.ebi.ac.uk/efo/EFO_1001932 adult acute megakaryoblastic leukemia 'adult acute megakaryoblastic leukemia' SubClassOf 'acute megakaryoblastic leukaemia' 'adult acute megakaryoblastic leukemia' SubClassOf 'acute megakaryoblastic leukaemia' 'adult acute megakaryoblastic leukemia' SubClassOf 'has_disease_location' some ('blood' or ('part_of' some 'blood')) http://www.ebi.ac.uk/efo/EFO_1000601 Transitional Cell Carcinoma 'Transitional Cell Carcinoma' SubClassOf 'carcinoma' 'Transitional Cell Carcinoma' SubClassOf 'carcinoma' http://www.ebi.ac.uk/efo/EFO_1001931 oropharynx cancer 'oropharynx cancer' SubClassOf 'pharynx cancer' 'oropharynx cancer' SubClassOf 'pharynx cancer' 'oropharynx cancer' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021364 http://www.orpha.net/ORDO/Orphanet_254704 Genetic hyperferritinemia without iron overload 'Genetic hyperferritinemia without iron overload' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018652 http://www.ebi.ac.uk/efo/EFO_1000608 Undifferentiated Pleomorphic Sarcoma, Inflammatory Variant 'Undifferentiated Pleomorphic Sarcoma, Inflammatory Variant' SubClassOf 'sarcoma' 'Undifferentiated Pleomorphic Sarcoma, Inflammatory Variant' SubClassOf 'sarcoma' 'Undifferentiated Pleomorphic Sarcoma, Inflammatory Variant' SubClassOf 'undifferentiated pleomorphic sarcoma' http://www.ebi.ac.uk/efo/EFO_1000609 Ureter Carcinoma 'Ureter Carcinoma' SubClassOf 'carcinoma' 'Ureter Carcinoma' SubClassOf 'has_disease_location' some ('ureter' or ('part_of' some 'ureter')) 'Ureter Carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0008627 'Ureter Carcinoma' SubClassOf 'carcinoma' http://www.ebi.ac.uk/efo/EFO_1001939 Barrett adenocarcinoma 'Barrett adenocarcinoma' SubClassOf 'esophageal adenocarcinoma' 'Barrett adenocarcinoma' SubClassOf 'esophageal adenocarcinoma' 'Barrett adenocarcinoma' SubClassOf 'has_disease_location' some ('epithelium of esophagus' or ('part_of' some 'epithelium of esophagus')) http://www.ebi.ac.uk/efo/EFO_1001941 bronchioloalveolar carcinoma 'bronchioloalveolar carcinoma' SubClassOf 'lung adenocarcinoma' 'bronchioloalveolar carcinoma' SubClassOf 'lung adenocarcinoma' 'bronchioloalveolar carcinoma' SubClassOf 'has_disease_location' some ('epithelium of bronchiole' or ('part_of' some 'epithelium of bronchiole')) http://www.ebi.ac.uk/efo/EFO_1000610 Ureter Small Cell Carcinoma 'Ureter Small Cell Carcinoma' SubClassOf 'carcinoma' 'Ureter Small Cell Carcinoma' SubClassOf 'ureteral neoplasm' 'Ureter Small Cell Carcinoma' SubClassOf 'Ureter Carcinoma' 'Ureter Small Cell Carcinoma' SubClassOf 'has_disease_location' some ('ureter' or ('part_of' some 'ureter')) 'Ureter Small Cell Carcinoma' SubClassOf 'carcinoma' 'Ureter Small Cell Carcinoma' SubClassOf 'small cell carcinoma' http://www.ebi.ac.uk/efo/EFO_1001940 basaloid squamous cell carcinoma 'basaloid squamous cell carcinoma' SubClassOf 'squamous cell carcinoma' 'basaloid squamous cell carcinoma' SubClassOf 'has_disease_location' some ('upper digestive tract' or ('part_of' some 'upper digestive tract')) 'basaloid squamous cell carcinoma' SubClassOf 'squamous cell carcinoma' 'basaloid squamous cell carcinoma' SubClassOf 'Basaloid Carcinoma' http://www.ebi.ac.uk/efo/EFO_1001949 colon adenocarcinoma 'colon adenocarcinoma' SubClassOf 'colorectal adenocarcinoma' 'colon adenocarcinoma' SubClassOf 'colon carcinoma' 'colon adenocarcinoma' SubClassOf 'colorectal adenocarcinoma' 'colon adenocarcinoma' SubClassOf 'colon carcinoma' 'colon adenocarcinoma' SubClassOf 'has_disease_location' some ('colon' or ('part_of' some 'colon')) http://www.ebi.ac.uk/efo/EFO_1000617 Vaginal Adenoid Cystic Carcinoma 'Vaginal Adenoid Cystic Carcinoma' SubClassOf 'female reproductive system disease' 'Vaginal Adenoid Cystic Carcinoma' SubClassOf 'adenoid cystic carcinoma' 'Vaginal Adenoid Cystic Carcinoma' SubClassOf 'urogenital neoplasm' 'Vaginal Adenoid Cystic Carcinoma' SubClassOf 'has_disease_location' some ('vagina' or ('part_of' some 'vagina')) 'Vaginal Adenoid Cystic Carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020653 'Vaginal Adenoid Cystic Carcinoma' SubClassOf 'adenoid cystic carcinoma' http://www.ebi.ac.uk/efo/EFO_1000618 Vaginal Carcinosarcoma 'Vaginal Carcinosarcoma' SubClassOf 'carcinoma' 'Vaginal Carcinosarcoma' SubClassOf 'female reproductive system disease' 'Vaginal Carcinosarcoma' SubClassOf 'urogenital neoplasm' 'Vaginal Carcinosarcoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0037746 'Vaginal Carcinosarcoma' SubClassOf 'carcinoma' 'Vaginal Carcinosarcoma' SubClassOf 'has_disease_location' some ('vagina' or ('part_of' some 'vagina')) http://www.ebi.ac.uk/efo/EFO_1001948 childhood T lymphoblastic lymphoma 'childhood T lymphoblastic lymphoma' SubClassOf 'Cutaneous T-cell lymphoma' 'childhood T lymphoblastic lymphoma' SubClassOf 'Cutaneous T-cell lymphoma' 'childhood T lymphoblastic lymphoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004403 'childhood T lymphoblastic lymphoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000873 'childhood T lymphoblastic lymphoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017814 'childhood T lymphoblastic lymphoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003659 'childhood T lymphoblastic lymphoma' SubClassOf 'has_disease_location' some ('blood' or ('part_of' some 'blood')) http://www.ebi.ac.uk/efo/EFO_1001947 childhood T acute lymphoblastic leukemia 'childhood T acute lymphoblastic leukemia' SubClassOf 'T-cell acute lymphoblastic leukemia' 'childhood T acute lymphoblastic leukemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000870 'childhood T acute lymphoblastic leukemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004403 'childhood T acute lymphoblastic leukemia' SubClassOf 'has_disease_location' some ('blood' or ('part_of' some 'blood')) 'childhood T acute lymphoblastic leukemia' SubClassOf 'T-cell acute lymphoblastic leukemia' http://www.ebi.ac.uk/efo/EFO_1000616 Uveal Melanoma 'Uveal Melanoma' SubClassOf 'melanoma' 'Uveal Melanoma' SubClassOf 'eye neoplasm' 'Uveal Melanoma' SubClassOf 'head and neck neoplasia' 'Uveal Melanoma' SubClassOf 'melanoma' 'Uveal Melanoma' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Uveal Melanoma' SubClassOf 'eye neoplasm' 'Uveal Melanoma' SubClassOf 'Ocular Melanoma' 'Uveal Melanoma' SubClassOf 'uveal cancer' 'Uveal Melanoma' SubClassOf 'has_disease_location' some ('iris' or ('part_of' some 'iris')) http://www.ebi.ac.uk/efo/EFO_1001946 childhood B acute lymphoblastic leukemia 'childhood B acute lymphoblastic leukemia' SubClassOf 'B-cell acute lymphoblastic leukemia' 'childhood B acute lymphoblastic leukemia' SubClassOf 'has_disease_location' some ('blood' or ('part_of' some 'blood')) 'childhood B acute lymphoblastic leukemia' SubClassOf 'B-cell acute lymphoblastic leukemia' 'childhood B acute lymphoblastic leukemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000870 'childhood B acute lymphoblastic leukemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020511 http://www.ebi.ac.uk/efo/EFO_1000613 Uterine Carcinosarcoma 'Uterine Carcinosarcoma' SubClassOf 'sarcoma' 'Uterine Carcinosarcoma' SubClassOf 'uterine carcinoma' 'Uterine Carcinosarcoma' SubClassOf 'uterine neoplasm' 'Uterine Carcinosarcoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002715 'Uterine Carcinosarcoma' SubClassOf 'sarcoma' 'Uterine Carcinosarcoma' SubClassOf 'has_disease_location' some ('uterus' or ('part_of' some 'uterus')) 'Uterine Carcinosarcoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002928 'Uterine Carcinosarcoma' SubClassOf 'uterine carcinoma' http://www.ebi.ac.uk/efo/EFO_1001945 childhood acute myeloid leukemia with maturation 'childhood acute myeloid leukemia with maturation' SubClassOf 'acute myeloblastic leukemia with maturation' 'childhood acute myeloid leukemia with maturation' SubClassOf 'acute myeloblastic leukemia with maturation' 'childhood acute myeloid leukemia with maturation' SubClassOf 'has_disease_location' some ('blood' or ('part_of' some 'blood')) http://www.ebi.ac.uk/efo/EFO_1000614 Uterine Corpus Lipoleiomyoma 'Uterine Corpus Lipoleiomyoma' SubClassOf 'uterine neoplasm' 'Uterine Corpus Lipoleiomyoma' SubClassOf 'has_disease_location' some ('uterus' or ('part_of' some 'uterus')) 'Uterine Corpus Lipoleiomyoma' SubClassOf 'has_disease_location' some 'utering smooth muscle cell' 'Uterine Corpus Lipoleiomyoma' SubClassOf 'uterine neoplasm' http://www.ebi.ac.uk/efo/EFO_1001944 childhood acute monocytic leukemia 'childhood acute monocytic leukemia' SubClassOf 'acute monocytic leukemia' 'childhood acute monocytic leukemia' SubClassOf 'has_disease_location' some ('blood' or ('part_of' some 'blood')) 'childhood acute monocytic leukemia' SubClassOf 'acute monocytic leukemia' http://www.ebi.ac.uk/efo/EFO_1000611 Urothelial Dysplasia 'Urothelial Dysplasia' SubClassOf 'neoplasm' 'Urothelial Dysplasia' SubClassOf 'neoplasm' 'Urothelial Dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024337 'Urothelial Dysplasia' SubClassOf 'has_disease_location' some ('urothelium' or ('part_of' some 'urothelium')) http://www.ebi.ac.uk/efo/EFO_1001943 childhood acute megakaryoblastic leukemia 'childhood acute megakaryoblastic leukemia' SubClassOf 'acute megakaryoblastic leukaemia' 'childhood acute megakaryoblastic leukemia' SubClassOf 'acute megakaryoblastic leukaemia' 'childhood acute megakaryoblastic leukemia' SubClassOf 'has_disease_location' some ('blood' or ('part_of' some 'blood')) http://www.ebi.ac.uk/efo/EFO_1000612 Usual Ductal Breast Hyperplasia 'Usual Ductal Breast Hyperplasia' SubClassOf 'hyperplasia' 'Usual Ductal Breast Hyperplasia' SubClassOf 'breast neoplasm' 'Usual Ductal Breast Hyperplasia' SubClassOf 'has_disease_location' some ('breast' or ('part_of' some 'breast')) 'Usual Ductal Breast Hyperplasia' SubClassOf 'hyperplasia' 'Usual Ductal Breast Hyperplasia' SubClassOf 'breast neoplasm' 'Usual Ductal Breast Hyperplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004007 http://www.ebi.ac.uk/efo/EFO_1001942 bronchogenic carcinoma 'bronchogenic carcinoma' SubClassOf 'lung carcinoma' 'bronchogenic carcinoma' SubClassOf 'lung carcinoma' 'bronchogenic carcinoma' SubClassOf 'has_disease_location' some ('epithelium of bronchus' or ('part_of' some 'epithelium of bronchus')) 'bronchogenic carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001672 http://www.ebi.ac.uk/efo/EFO_1000619 Vaginal Melanoma 'Vaginal Melanoma' SubClassOf 'urogenital neoplasm' 'Vaginal Melanoma' SubClassOf 'melanoma' 'Vaginal Melanoma' SubClassOf 'female reproductive system disease' 'Vaginal Melanoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000544 'Vaginal Melanoma' SubClassOf 'has_disease_location' some ('vagina' or ('part_of' some 'vagina')) 'Vaginal Melanoma' SubClassOf 'melanoma' 'Vaginal Melanoma' SubClassOf 'Vaginal neoplasm' http://www.orpha.net/ORDO/Orphanet_1782 Dysosteosclerosis 'Dysosteosclerosis' SubClassOf 'Osteopetrosis' 'Dysosteosclerosis' SubClassOf 'Osteopetrosis' http://purl.obolibrary.org/obo/CLO_0031281 GM14468 'GM14468' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM14468' SubClassOf 'has_quality' some 'female' 'GM14468' SubClassOf 'cultured cell' http://purl.obolibrary.org/obo/DOID_7551 gonorrhea 'gonorrhea' SubClassOf 'bacterial disease' 'gonorrhea' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000314 'gonorrhea' SubClassOf 'bacterial sexually transmitted disease' 'gonorrhea' SubClassOf 'has_participant' some 'Neisseria gonorrhoeae' http://purl.obolibrary.org/obo/CLO_0031280 GM14474 'GM14474' SubClassOf 'has_quality' some 'female' 'GM14474' SubClassOf 'cultured cell' 'GM14474' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://www.orpha.net/ORDO/Orphanet_1787 Acrofacial dysostosis, Palagonia type 'Acrofacial dysostosis, Palagonia type' SubClassOf 'Acrofacial dysostosis' 'Acrofacial dysostosis, Palagonia type' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Acrofacial dysostosis, Palagonia type' SubClassOf 'Acrofacial dysostosis' 'Acrofacial dysostosis, Palagonia type' SubClassOf 'Genetic branchial arch or oral-acral syndrome' http://www.orpha.net/ORDO/Orphanet_1788 Acrofacial dysostosis, Rodríguez type 'Acrofacial dysostosis, Rodríguez type' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Acrofacial dysostosis, Rodríguez type' SubClassOf 'Acrofacial dysostosis' 'Acrofacial dysostosis, Rodríguez type' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Acrofacial dysostosis, Rodríguez type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Acrofacial dysostosis, Rodríguez type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Acrofacial dysostosis, Rodríguez type' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Acrofacial dysostosis, Rodríguez type' SubClassOf 'Acrofacial dysostosis' 'Acrofacial dysostosis, Rodríguez type' SubClassOf 'Genetic branchial arch or oral-acral syndrome' http://www.orpha.net/ORDO/Orphanet_1786 Acrofacial dysostosis, Catania type 'Acrofacial dysostosis, Catania type' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Acrofacial dysostosis, Catania type' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Acrofacial dysostosis, Catania type' SubClassOf 'Acrofacial dysostosis' 'Acrofacial dysostosis, Catania type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Acrofacial dysostosis, Catania type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Acrofacial dysostosis, Catania type' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Acrofacial dysostosis, Catania type' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Acrofacial dysostosis, Catania type' SubClassOf 'Acrofacial dysostosis' http://www.orpha.net/ORDO/Orphanet_56304 Atelosteogenesis type II 'Atelosteogenesis type II' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Atelosteogenesis type II' SubClassOf 'Sulfation-related bone disorder' 'Atelosteogenesis type II' SubClassOf 'Pierre Robin syndrome associated with bone disease' 'Atelosteogenesis type II' SubClassOf 'Mesomelic and rhizo-mesomelic dysplasia' 'Atelosteogenesis type II' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Atelosteogenesis type II' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Atelosteogenesis type II' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Atelosteogenesis type II' SubClassOf 'Sulfation-related bone disorder' 'Atelosteogenesis type II' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000389 'Atelosteogenesis type II' SubClassOf 'Pierre Robin syndrome associated with bone disease' 'Atelosteogenesis type II' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 'Atelosteogenesis type II' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 'Atelosteogenesis type II' SubClassOf 'Mesomelic and rhizo-mesomelic dysplasia' http://www.orpha.net/ORDO/Orphanet_56305 Atelosteogenesis type III 'Atelosteogenesis type III' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Atelosteogenesis type III' SubClassOf 'Primary bone dysplasia with multiple joint dislocations' 'Atelosteogenesis type III' SubClassOf 'Filamin-related bone disorder' 'Atelosteogenesis type III' SubClassOf 'Pierre Robin syndrome associated with bone disease' 'Atelosteogenesis type III' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Atelosteogenesis type III' SubClassOf 'Primary bone dysplasia with multiple joint dislocations' 'Atelosteogenesis type III' SubClassOf 'Filamin-related bone disorder' 'Atelosteogenesis type III' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000389 'Atelosteogenesis type III' SubClassOf 'Pierre Robin syndrome associated with bone disease' 'Atelosteogenesis type III' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 'Atelosteogenesis type III' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Atelosteogenesis type III' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Atelosteogenesis type III' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 http://www.orpha.net/ORDO/Orphanet_1784 Acro-fronto-facio-nasal dysostosis 'Acro-fronto-facio-nasal dysostosis' SubClassOf 'Acrofacial dysostosis' 'Acro-fronto-facio-nasal dysostosis' SubClassOf 'Acrofacial dysostosis' http://purl.obolibrary.org/obo/UBERON_0009582 spinal cord lateral wall 'spinal cord lateral wall' SubClassOf 'part_of' some 'spinal cord' 'spinal cord lateral wall' SubClassOf 'part_of' some 'primordium' 'spinal cord lateral wall' SubClassOf 'part_of' some 'nervous system' 'spinal cord lateral wall' SubClassOf 'part_of' some 'embryonic structure' http://www.orpha.net/ORDO/Orphanet_325706 Genetic 46,XY disorder of sex development 'Genetic 46,XY disorder of sex development' SubClassOf 'Genetic disorder of sex development' 'Genetic 46,XY disorder of sex development' SubClassOf 'Genetic disorder of sex development' http://www.ebi.ac.uk/efo/EFO_0001290 obsolete_cleavage stage 'obsolete_cleavage stage' SubClassOf 'obsolete class' 'obsolete_cleavage stage' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1790 Hypomandibular faciocranial dysostosis 'Hypomandibular faciocranial dysostosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007 'Hypomandibular faciocranial dysostosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020018 http://www.orpha.net/ORDO/Orphanet_1791 Frontofacionasal dysplasia 'Frontofacionasal dysplasia' SubClassOf 'Frontonasal dysplasia' 'Frontofacionasal dysplasia' SubClassOf 'Syndromic palpebral coloboma' 'Frontofacionasal dysplasia' SubClassOf 'Syndromic ankyloblepharon' 'Frontofacionasal dysplasia' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Frontofacionasal dysplasia' SubClassOf 'Syndromic developmental defect of the eye' 'Frontofacionasal dysplasia' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Frontofacionasal dysplasia' SubClassOf 'Syndromic palpebral coloboma' 'Frontofacionasal dysplasia' SubClassOf 'Frontonasal dysplasia' 'Frontofacionasal dysplasia' SubClassOf 'Syndromic ankyloblepharon' 'Frontofacionasal dysplasia' SubClassOf 'Syndromic developmental defect of the eye' 'Frontofacionasal dysplasia' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Frontofacionasal dysplasia' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Frontofacionasal dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015412 http://purl.obolibrary.org/obo/CLO_0031272 GM14475 'GM14475' SubClassOf 'has_quality' some 'female' 'GM14475' SubClassOf 'cultured cell' 'GM14475' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/CHEBI_18262 dodecanoate 'dodecanoate' SubClassOf 'lipid' 'dodecanoate' SubClassOf 'lipid' http://www.ebi.ac.uk/efo/EFO_0001296 obsolete_gastrula stage 'obsolete_gastrula stage' SubClassOf 'obsolete class' 'obsolete_gastrula stage' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/CLO_0031276 GM14467 'GM14467' SubClassOf 'cultured cell' 'GM14467' SubClassOf 'has_quality' some 'female' 'GM14467' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/CLO_0031275 GM14465 'GM14465' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM14465' SubClassOf 'cultured cell' 'GM14465' SubClassOf 'has_quality' some 'female' http://purl.obolibrary.org/obo/CLO_0031274 GM14476 'GM14476' SubClassOf 'has_quality' some 'female' 'GM14476' SubClassOf 'cultured cell' 'GM14476' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://www.orpha.net/ORDO/Orphanet_1798 Dysostosis, Stanescu type 'Dysostosis, Stanescu type' SubClassOf 'Primary bone dysplasia with increased bone density' 'Dysostosis, Stanescu type' SubClassOf 'Primary bone dysplasia with increased bone density' http://www.orpha.net/ORDO/Orphanet_1797 Autosomal dominant spondylocostal dysostosis 'Autosomal dominant spondylocostal dysostosis' SubClassOf 'Dysostosis with predominant vertebral and costal involvement' 'Autosomal dominant spondylocostal dysostosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000359 'Autosomal dominant spondylocostal dysostosis' SubClassOf 'Dysostosis with predominant vertebral and costal involvement' 'Autosomal dominant spondylocostal dysostosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 http://purl.obolibrary.org/obo/CLO_0031278 GM14464 'GM14464' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM14464' SubClassOf 'cultured cell' 'GM14464' SubClassOf 'has_quality' some 'female' http://www.orpha.net/ORDO/Orphanet_1794 Oculomaxillofacial dysostosis 'Oculomaxillofacial dysostosis' SubClassOf 'Dysostosis with predominant craniofacial involvement' 'Oculomaxillofacial dysostosis' SubClassOf 'Orofacial clefting syndrome' 'Oculomaxillofacial dysostosis' SubClassOf 'Dysostosis with predominant craniofacial involvement' 'Oculomaxillofacial dysostosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 'Oculomaxillofacial dysostosis' SubClassOf 'Orofacial clefting syndrome' http://www.orpha.net/ORDO/Orphanet_1795 Peripheral dysostosis 'Peripheral dysostosis' SubClassOf 'Acromelic dysplasia' 'Peripheral dysostosis' SubClassOf 'Acromelic dysplasia' http://purl.obolibrary.org/obo/CHEBI_32599 magnesium sulfate 'magnesium sulfate' SubClassOf 'chemical entity' 'magnesium sulfate' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_399983 Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin 'Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0018386 and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) 'Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018386 http://purl.obolibrary.org/obo/CHEBI_18261 N-carbamoyl-beta-alanine 'N-carbamoyl-beta-alanine' SubClassOf 'chemical entity' 'N-carbamoyl-beta-alanine' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_399980 Rare genetic male infertility 'Rare genetic male infertility' SubClassOf 'has_disease_location' some 'male reproductive system' http://www.orpha.net/ORDO/Orphanet_800 Schwartz-Jampel syndrome 'Schwartz-Jampel syndrome' SubClassOf 'Syndromic myopia' 'Schwartz-Jampel syndrome' SubClassOf 'Congenital myotonia' 'Schwartz-Jampel syndrome' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Schwartz-Jampel syndrome' SubClassOf 'Progressive muscular dystrophy' 'Schwartz-Jampel syndrome' SubClassOf 'Qualitative or quantitative defects of perlecan' 'Schwartz-Jampel syndrome' SubClassOf 'Perlecan-related bone disorder' 'Schwartz-Jampel syndrome' SubClassOf 'autosomal recessive disease' 'Schwartz-Jampel syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 'Schwartz-Jampel syndrome' SubClassOf 'Syndromic myopia' 'Schwartz-Jampel syndrome' SubClassOf 'Congenital myotonia' 'Schwartz-Jampel syndrome' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Schwartz-Jampel syndrome' SubClassOf 'Progressive muscular dystrophy' 'Schwartz-Jampel syndrome' SubClassOf 'Perlecan-related bone disorder' 'Schwartz-Jampel syndrome' SubClassOf 'Qualitative or quantitative defects of perlecan' http://purl.obolibrary.org/obo/CLO_0031261 GM14448 'GM14448' SubClassOf 'cultured cell' 'GM14448' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM14448' SubClassOf 'has_quality' some 'female' http://purl.obolibrary.org/obo/CLO_0031260 GM14447 'GM14447' SubClassOf 'cultured cell' 'GM14447' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM14447' SubClassOf 'has_quality' some 'female' http://purl.obolibrary.org/obo/CLO_0031263 GM14452 'GM14452' SubClassOf 'cultured cell' 'GM14452' SubClassOf 'has_quality' some 'female' 'GM14452' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/CHEBI_31228 apomorphine hydrochloride 'apomorphine hydrochloride' SubClassOf 'has_role' some 'social desirability' http://www.orpha.net/ORDO/Orphanet_171929 Trisomy 10p 'Trisomy 10p' SubClassOf 'Partial duplication of the short arm of chromosome 10' 'Trisomy 10p' SubClassOf 'Partial duplication of the short arm of chromosome 10' http://www.orpha.net/ORDO/Orphanet_811 Shwachman-Diamond syndrome 'Shwachman-Diamond syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Shwachman-Diamond syndrome' SubClassOf 'Multiple metaphyseal dysplasia' 'Shwachman-Diamond syndrome' SubClassOf 'Functional neutrophil defect' 'Shwachman-Diamond syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Shwachman-Diamond syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 'Shwachman-Diamond syndrome' SubClassOf 'pancreas disease' 'Shwachman-Diamond syndrome' SubClassOf 'Multiple metaphyseal dysplasia' 'Shwachman-Diamond syndrome' SubClassOf 'Functional neutrophil defect' 'Shwachman-Diamond syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000841 'Shwachman-Diamond syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001713 http://purl.obolibrary.org/obo/CHEBI_68503 3-methyladipic acid '3-methyladipic acid' SubClassOf 'acid' '3-methyladipic acid' SubClassOf 'acid' http://purl.obolibrary.org/obo/CLO_0031254 GM14454 'GM14454' SubClassOf 'cultured cell' 'GM14454' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM14454' SubClassOf 'has_quality' some 'female' http://purl.obolibrary.org/obo/CLO_0031253 GM14453 'GM14453' SubClassOf 'cultured cell' 'GM14453' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM14453' SubClassOf 'has_quality' some 'female' http://purl.obolibrary.org/obo/CLO_0031257 GM14440 'GM14440' SubClassOf 'has_quality' some 'female' 'GM14440' SubClassOf 'cultured cell' 'GM14440' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/CLO_0031256 GM14455 'GM14455' SubClassOf 'cultured cell' 'GM14455' SubClassOf 'has_quality' some 'female' 'GM14455' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://www.orpha.net/ORDO/Orphanet_808 Seckel syndrome 'Seckel syndrome' SubClassOf 'Microcephalic primordial dwarfism' 'Seckel syndrome' SubClassOf 'autosomal recessive disease' 'Seckel syndrome' SubClassOf 'Microcephalic primordial dwarfism' http://www.orpha.net/ORDO/Orphanet_806 Scott syndrome 'Scott syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017142 http://www.orpha.net/ORDO/Orphanet_805 Tuberous sclerosis 'Tuberous sclerosis' SubClassOf 'kidney neoplasm' 'Tuberous sclerosis' SubClassOf 'Genetic neurodegenerative disease' 'Tuberous sclerosis' SubClassOf 'Monogenic disease with epilepsy' 'Tuberous sclerosis' SubClassOf 'disease has feature' some 'hamartoma' 'Tuberous sclerosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 'Tuberous sclerosis' SubClassOf 'brain neoplasm' 'Tuberous sclerosis' SubClassOf 'Inherited cancer-predisposing syndrome' 'Tuberous sclerosis' SubClassOf 'Milroy disease' 'Tuberous sclerosis' SubClassOf 'head and neck neoplasia' 'Tuberous sclerosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0009332 'Tuberous sclerosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0042983 http://www.orpha.net/ORDO/Orphanet_822 Hereditary spherocytosis 'Hereditary spherocytosis' SubClassOf 'Rare constitutional hemolytic anemia due to a red cell membrane anomaly' 'Hereditary spherocytosis' SubClassOf 'Rare constitutional hemolytic anemia due to a red cell membrane anomaly' http://www.orpha.net/ORDO/Orphanet_821 Sotos syndrome 'Sotos syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 5' 'Sotos syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Sotos syndrome' SubClassOf 'Cerebral disease with cataract' 'Sotos syndrome' SubClassOf 'Overgrowth syndrome' 'Sotos syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 5' 'Sotos syndrome' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'Sotos syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Sotos syndrome' SubClassOf 'Cerebral disease with cataract' 'Sotos syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019717 'Sotos syndrome' SubClassOf 'autosomal recessive disease' 'Sotos syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007 http://www.orpha.net/ORDO/Orphanet_1745 Distal trisomy 6p 'Distal trisomy 6p' SubClassOf 'Partial duplication of the short arm of chromosome 6' 'Distal trisomy 6p' SubClassOf 'Partial duplication of the short arm of chromosome 6' http://www.orpha.net/ORDO/Orphanet_1742 Trisomy 5p 'Trisomy 5p' SubClassOf 'Partial trisomy/tetrasomy of the short arm of chromosome 5' 'Trisomy 5p' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019717 'Trisomy 5p' SubClassOf 'Partial trisomy/tetrasomy of the short arm of chromosome 5' 'Trisomy 5p' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020226 http://purl.obolibrary.org/obo/CHEBI_33871 glycerate 'glycerate' SubClassOf 'chemical entity' 'glycerate' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_1738 Trisomy 4p 'Trisomy 4p' SubClassOf 'Partial duplication of the short arm of chromosome 4' 'Trisomy 4p' SubClassOf 'Partial duplication of the short arm of chromosome 4' http://www.orpha.net/ORDO/Orphanet_819 Smith-Magenis syndrome 'Smith-Magenis syndrome' SubClassOf 'Partial monosomy of the short arm of chromosome 17' 'Smith-Magenis syndrome' SubClassOf 'Rare disease with autism' 'Smith-Magenis syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Smith-Magenis syndrome' SubClassOf 'Syndromic obesity' 'Smith-Magenis syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000761 'Smith-Magenis syndrome' SubClassOf 'Rare disease with autism' 'Smith-Magenis syndrome' SubClassOf 'Partial monosomy of the short arm of chromosome 17' 'Smith-Magenis syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Smith-Magenis syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Smith-Magenis syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 'Smith-Magenis syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 http://www.orpha.net/ORDO/Orphanet_818 Smith-Lemli-Opitz syndrome 'Smith-Lemli-Opitz syndrome' SubClassOf 'Syndromic neurometabolic disease with non-X-linked intellectual disability' 'Smith-Lemli-Opitz syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Smith-Lemli-Opitz syndrome' SubClassOf 'Syndromic epicanthus' 'Smith-Lemli-Opitz syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Smith-Lemli-Opitz syndrome' SubClassOf '46,XY disorder of sex development due to cholesterol synthesis defect' 'Smith-Lemli-Opitz syndrome' SubClassOf 'Genetic malformation syndrome with short stature' 'Smith-Lemli-Opitz syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Smith-Lemli-Opitz syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Smith-Lemli-Opitz syndrome' SubClassOf 'Metabolic disease with cataract' 'Smith-Lemli-Opitz syndrome' SubClassOf 'Craniofacial anomaly with cataract' 'Smith-Lemli-Opitz syndrome' SubClassOf 'Sterol biosynthesis disorder' 'Smith-Lemli-Opitz syndrome' SubClassOf 'Syndromic neurometabolic disease with non-X-linked intellectual disability' 'Smith-Lemli-Opitz syndrome' SubClassOf 'Syndromic epicanthus' 'Smith-Lemli-Opitz syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Smith-Lemli-Opitz syndrome' SubClassOf 'Rare syndromic dyslipidemia' 'Smith-Lemli-Opitz syndrome' SubClassOf 'Dysostosis with limb and face anomalies as a major feature' 'Smith-Lemli-Opitz syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 'Smith-Lemli-Opitz syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Smith-Lemli-Opitz syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044976 'Smith-Lemli-Opitz syndrome' SubClassOf '46,XY disorder of sex development due to cholesterol synthesis defect' 'Smith-Lemli-Opitz syndrome' SubClassOf 'Genetic malformation syndrome with short stature' 'Smith-Lemli-Opitz syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Smith-Lemli-Opitz syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020169 'Smith-Lemli-Opitz syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Smith-Lemli-Opitz syndrome' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'Smith-Lemli-Opitz syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0045017 'Smith-Lemli-Opitz syndrome' SubClassOf 'Metabolic disease with cataract' 'Smith-Lemli-Opitz syndrome' SubClassOf 'Craniofacial anomaly with cataract' http://www.orpha.net/ORDO/Orphanet_817 Peeling skin syndrome 'Peeling skin syndrome' SubClassOf 'Inherited non-syndromic ichthyosis' 'Peeling skin syndrome' SubClassOf 'Inherited non-syndromic ichthyosis' http://www.orpha.net/ORDO/Orphanet_816 Sjögren-Larsson syndrome 'Sjögren-Larsson syndrome' SubClassOf 'Metabolic disease with cataract' 'Sjögren-Larsson syndrome' SubClassOf 'Autosomal ichthyosis syndrome with prominent neurologics signs' 'Sjögren-Larsson syndrome' SubClassOf 'Metabolic disease with pigmentary retinitis' 'Sjögren-Larsson syndrome' SubClassOf 'Syndromic ichthyosis associated with ocular features' 'Sjögren-Larsson syndrome' SubClassOf 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement' 'Sjögren-Larsson syndrome' SubClassOf 'Neurometabolic disease' 'Sjögren-Larsson syndrome' SubClassOf 'Unclassified primitive or secondary maculopathy' 'Sjögren-Larsson syndrome' SubClassOf 'Leukodystrophy' 'Sjögren-Larsson syndrome' SubClassOf 'Metabolic disease with cataract' 'Sjögren-Larsson syndrome' SubClassOf 'Rare syndromic dyslipidemia' 'Sjögren-Larsson syndrome' SubClassOf 'Autosomal ichthyosis syndrome with prominent neurologics signs' 'Sjögren-Larsson syndrome' SubClassOf 'Metabolic disease with pigmentary retinitis' 'Sjögren-Larsson syndrome' SubClassOf 'Syndromic ichthyosis associated with ocular features' 'Sjögren-Larsson syndrome' SubClassOf 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement' 'Sjögren-Larsson syndrome' SubClassOf 'Neurometabolic disease' 'Sjögren-Larsson syndrome' SubClassOf 'Autosomal recessive congenital ichthyosis' 'Sjögren-Larsson syndrome' SubClassOf 'Unclassified primitive or secondary maculopathy' http://www.orpha.net/ORDO/Orphanet_813 Silver-Russell syndrome 'Silver-Russell syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Silver-Russell syndrome' SubClassOf 'Genetic malformation syndrome with short stature' 'Silver-Russell syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Silver-Russell syndrome' SubClassOf 'Chromosomal anomaly' 'Silver-Russell syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007 'Silver-Russell syndrome' SubClassOf 'Genetic malformation syndrome with short stature' http://www.orpha.net/ORDO/Orphanet_812 sialidosis type I 'sialidosis type I' SubClassOf 'sialidosis' 'sialidosis type I' SubClassOf 'Metabolic disease with macular cherry-red spot' 'sialidosis type I' SubClassOf 'Neurometabolic disease' 'sialidosis type I' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'sialidosis type I' SubClassOf 'sialidosis' 'sialidosis type I' SubClassOf 'Metabolic disease with macular cherry-red spot' 'sialidosis type I' SubClassOf 'Neurometabolic disease' http://www.orpha.net/ORDO/Orphanet_833 Encephalopathy due to sulfite oxidase deficiency 'Encephalopathy due to sulfite oxidase deficiency' SubClassOf 'Developmental anomaly of metabolic origin' 'Encephalopathy due to sulfite oxidase deficiency' SubClassOf 'Syndromic developmental defect of the eye' 'Encephalopathy due to sulfite oxidase deficiency' SubClassOf 'Neurometabolic disease' 'Encephalopathy due to sulfite oxidase deficiency' SubClassOf 'Disorder of methionine cycle and sulfur amino acid metabolism' 'Encephalopathy due to sulfite oxidase deficiency' SubClassOf 'Lens position anomaly' 'Encephalopathy due to sulfite oxidase deficiency' SubClassOf 'Developmental anomaly of metabolic origin' 'Encephalopathy due to sulfite oxidase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044976 'Encephalopathy due to sulfite oxidase deficiency' SubClassOf 'Syndromic developmental defect of the eye' 'Encephalopathy due to sulfite oxidase deficiency' SubClassOf 'Cerebral organic aciduria' 'Encephalopathy due to sulfite oxidase deficiency' SubClassOf 'Neurometabolic disease' 'Encephalopathy due to sulfite oxidase deficiency' SubClassOf 'Disorder of methionine cycle and sulfur amino acid metabolism' 'Encephalopathy due to sulfite oxidase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016399 'Encephalopathy due to sulfite oxidase deficiency' SubClassOf 'Lens position anomaly' http://www.orpha.net/ORDO/Orphanet_832 Succinyl-CoA:3-ketoacid CoA transferase deficiency 'Succinyl-CoA:3-ketoacid CoA transferase deficiency' SubClassOf 'Disorder of ketone body metabolism' 'Succinyl-CoA:3-ketoacid CoA transferase deficiency' SubClassOf 'Disorder of ketone body metabolism' http://purl.obolibrary.org/obo/CHEBI_45863 paclitaxel 'paclitaxel' SubClassOf 'has_role' some 'antineoplastic agent' http://www.orpha.net/ORDO/Orphanet_68336 Rare genetic tumor 'Rare genetic tumor' SubClassOf 'realized_in' some ('disease course' and (('has part' some 'cell proliferation') and ('bearer_of' some 'abnormal'))) http://www.orpha.net/ORDO/Orphanet_68335 Chromosomal anomaly 'Chromosomal anomaly' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Chromosomal anomaly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003847 'Chromosomal anomaly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019755 http://www.orpha.net/ORDO/Orphanet_68334 Rare hemorrhagic disorder due to a constitutional coagulation factors defect 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002242 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016628 http://www.orpha.net/ORDO/Orphanet_1756 Caudal duplication 'Caudal duplication' SubClassOf 'Syndromic anorectal malformation' 'Caudal duplication' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017120 'Caudal duplication' SubClassOf 'Syndromic anorectal malformation' http://www.orpha.net/ORDO/Orphanet_69663 Low phospholipid associated cholelithiasis 'Low phospholipid associated cholelithiasis' SubClassOf 'Genetic biliary tract disease' 'Low phospholipid associated cholelithiasis' SubClassOf 'Genetic biliary tract disease' 'Low phospholipid associated cholelithiasis' SubClassOf 'gallbladder disease' 'Low phospholipid associated cholelithiasis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004789 http://www.orpha.net/ORDO/Orphanet_1757 Fibular dimelia - diplopodia 'Fibular dimelia - diplopodia' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Fibular dimelia - diplopodia' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' http://www.orpha.net/ORDO/Orphanet_1752 Trisomy 8q 'Trisomy 8q' SubClassOf 'Partial duplication of the long arm of chromosome 8' 'Trisomy 8q' SubClassOf 'Partial duplication of the long arm of chromosome 8' http://www.orpha.net/ORDO/Orphanet_1747 Mosaic trisomy 7 'Mosaic trisomy 7' SubClassOf 'Total autosomal trisomy' 'Mosaic trisomy 7' SubClassOf 'Total autosomal trisomy' http://www.orpha.net/ORDO/Orphanet_828 Stickler syndrome 'Stickler syndrome' SubClassOf 'Vitreoretinal degeneration' 'Stickler syndrome' SubClassOf 'Syndromic myopia' 'Stickler syndrome' SubClassOf 'Rare disease with glaucoma as a major feature' 'Stickler syndrome' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Stickler syndrome' SubClassOf 'Pierre Robin syndrome associated with collagen disease' 'Stickler syndrome' SubClassOf 'Musculoskeletal disease with cataract' 'Stickler syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Stickler syndrome' SubClassOf 'Syndromic genetic deafness' 'Stickler syndrome' SubClassOf 'Vitreoretinal degeneration' 'Stickler syndrome' SubClassOf 'Syndromic myopia' 'Stickler syndrome' SubClassOf 'Rare disease with glaucoma as a major feature' 'Stickler syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 'Stickler syndrome' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Stickler syndrome' SubClassOf 'Pierre Robin syndrome associated with collagen disease' 'Stickler syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Stickler syndrome' SubClassOf 'Syndromic genetic deafness' 'Stickler syndrome' SubClassOf 'Musculoskeletal disease with cataract' 'Stickler syndrome' SubClassOf 'Rare genetic systemic or rheumatologic disease' http://www.orpha.net/ORDO/Orphanet_827 Stargardt disease 'Stargardt disease' SubClassOf 'Familial flecked retinopathy' 'Stargardt disease' SubClassOf 'Familial flecked retinopathy' 'Stargardt disease' SubClassOf 'age-related macular degeneration' http://www.orpha.net/ORDO/Orphanet_823 Isolated spina bifida 'Isolated spina bifida' SubClassOf 'spinal cord disease' 'Isolated spina bifida' EquivalentTo 'spina bifida' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021128) http://www.orpha.net/ORDO/Orphanet_844 Atrial tachyarrhythmia with short PR interval 'Atrial tachyarrhythmia with short PR interval' SubClassOf 'Genetic cardiac rhythm disease' 'Atrial tachyarrhythmia with short PR interval' SubClassOf 'Genetic cardiac rhythm disease' 'Atrial tachyarrhythmia with short PR interval' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 http://purl.obolibrary.org/obo/CHEBI_18258 3,3',5-triiodo-L-thyronine '3,3',5-triiodo-L-thyronine' SubClassOf 'has_role' some 'hormone role' http://purl.obolibrary.org/obo/CHEBI_18257 ornithine 'ornithine' SubClassOf 'amino acid' 'ornithine' SubClassOf 'amino acid' http://www.orpha.net/ORDO/Orphanet_841 Sebocystomatosis 'Sebocystomatosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019286 http://www.orpha.net/ORDO/Orphanet_229717 Isolated agammaglobulinemia 'Isolated agammaglobulinemia' SubClassOf 'Agammaglobulinemia' 'Isolated agammaglobulinemia' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021128 'Isolated agammaglobulinemia' SubClassOf 'Agammaglobulinemia' 'Isolated agammaglobulinemia' EquivalentTo 'Agammaglobulinemia' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021128) http://www.orpha.net/ORDO/Orphanet_1768 Familial caudal dysgenesis 'Familial caudal dysgenesis' SubClassOf 'Syndromic anorectal malformation' 'Familial caudal dysgenesis' SubClassOf 'Genetic syndrome with a central nervous system malformation as major feature' 'Familial caudal dysgenesis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017120 'Familial caudal dysgenesis' SubClassOf 'Rare genetic neurological disorder' 'Familial caudal dysgenesis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018639 http://www.orpha.net/ORDO/Orphanet_1765 Dyschondrosteosis - nephritis 'Dyschondrosteosis - nephritis' SubClassOf 'Mesomelic and rhizo-mesomelic dysplasia' 'Dyschondrosteosis - nephritis' SubClassOf 'Syndromic renal or urinary tract malformation' 'Dyschondrosteosis - nephritis' SubClassOf 'Mesomelic and rhizo-mesomelic dysplasia' 'Dyschondrosteosis - nephritis' SubClassOf 'Syndromic renal or urinary tract malformation' http://www.orpha.net/ORDO/Orphanet_1766 Dysequilibrium syndrome 'Dysequilibrium syndrome' SubClassOf 'Autosomal recessive congenital cerebellar ataxia' 'Dysequilibrium syndrome' SubClassOf 'Autosomal recessive congenital cerebellar ataxia' http://www.orpha.net/ORDO/Orphanet_1764 Familial dysautonomia 'Familial dysautonomia' SubClassOf 'Autosomal recessive hereditary sensory and autonomic neuropathy' 'Familial dysautonomia' SubClassOf 'Nervous system anomaly with eye involvement' 'Familial dysautonomia' SubClassOf 'Congenital alacrima' 'Familial dysautonomia' SubClassOf 'Autosomal recessive hereditary sensory and autonomic neuropathy' 'Familial dysautonomia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021154 'Familial dysautonomia' SubClassOf 'Nervous system anomaly with eye involvement' 'Familial dysautonomia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018798 'Familial dysautonomia' SubClassOf 'Congenital alacrima' 'Familial dysautonomia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 'Familial dysautonomia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021635 'Familial dysautonomia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015914 http://www.orpha.net/ORDO/Orphanet_399994 Rare male infertility due to adrenal disorder of genetic origin 'Rare male infertility due to adrenal disorder of genetic origin' SubClassOf 'Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin' 'Rare male infertility due to adrenal disorder of genetic origin' SubClassOf 'Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin' http://www.orpha.net/ORDO/Orphanet_399998 Male infertility due to obstructive azoospermia of genetic origin 'Male infertility due to obstructive azoospermia of genetic origin' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020091 http://www.orpha.net/ORDO/Orphanet_1759 Thoraco-abdominal enteric duplication 'Thoraco-abdominal enteric duplication' SubClassOf 'Syndromic intestinal malformation' 'Thoraco-abdominal enteric duplication' SubClassOf 'Syndromic intestinal malformation' http://purl.obolibrary.org/obo/CHEBI_45826 N-acetyl-L-threonine 'N-acetyl-L-threonine' SubClassOf 'chemical entity' 'N-acetyl-L-threonine' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_839 Congenital nephrotic syndrome, Finnish type 'Congenital nephrotic syndrome, Finnish type' SubClassOf 'Congenital and infantile nephrotic syndrome' 'Congenital nephrotic syndrome, Finnish type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002350 'Congenital nephrotic syndrome, Finnish type' SubClassOf 'Congenital and infantile nephrotic syndrome' http://www.orpha.net/ORDO/Orphanet_834 Free sialic acid storage disease 'Free sialic acid storage disease' SubClassOf 'Disorder of lysosomal amino acid transport' 'Free sialic acid storage disease' SubClassOf 'Neurometabolic disease' 'Free sialic acid storage disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016397 'Free sialic acid storage disease' SubClassOf 'Disorder of lysosomal amino acid transport' 'Free sialic acid storage disease' SubClassOf 'Neurometabolic disease' http://www.orpha.net/ORDO/Orphanet_1770 Gonadal dysgenesis, XY type - associated anomalies 'Gonadal dysgenesis, XY type - associated anomalies' SubClassOf 'Syndrome with disorder of sex development of gynecological interest' 'Gonadal dysgenesis, XY type - associated anomalies' SubClassOf 'Syndrome with 46,XY disorder of sex development' 'Gonadal dysgenesis, XY type - associated anomalies' SubClassOf 'Syndrome with disorder of sex development of gynecological interest' 'Gonadal dysgenesis, XY type - associated anomalies' SubClassOf 'Syndrome with 46,XY disorder of sex development' http://www.orpha.net/ORDO/Orphanet_852 X-linked thrombocytopenia with normal platelets 'X-linked thrombocytopenia with normal platelets' SubClassOf 'Hereditary thrombocytopenia with normal platelets' 'X-linked thrombocytopenia with normal platelets' SubClassOf 'Hereditary thrombocytopenia with normal platelets' http://www.orpha.net/ORDO/Orphanet_851 Paris-Trousseau thrombocytopenia 'Paris-Trousseau thrombocytopenia' SubClassOf 'Rare hemorrhagic disorder due to a constitutional thrombocytopenia' 'Paris-Trousseau thrombocytopenia' SubClassOf 'Partial deletion of the long arm of chromosome 11' 'Paris-Trousseau thrombocytopenia' SubClassOf 'Partial deletion of the long arm of chromosome 11' 'Paris-Trousseau thrombocytopenia' SubClassOf 'Alpha granule disease' 'Paris-Trousseau thrombocytopenia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0009332 http://purl.obolibrary.org/obo/CHEBI_18243 dopamine 'dopamine' SubClassOf ('has_role' some 'beta-adrenergic agonist') or ('has_role' some 'cardiotonic drug') http://www.orpha.net/ORDO/Orphanet_1778 Facial dysmorphism - shawl scrotum - joint laxity 'Facial dysmorphism - shawl scrotum - joint laxity' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Facial dysmorphism - shawl scrotum - joint laxity' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Facial dysmorphism - shawl scrotum - joint laxity' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Facial dysmorphism - shawl scrotum - joint laxity' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 http://www.orpha.net/ORDO/Orphanet_1779 Dysmorphism - cleft palate - loose skin 'Dysmorphism - cleft palate - loose skin' SubClassOf 'Orofacial clefting syndrome' 'Dysmorphism - cleft palate - loose skin' SubClassOf 'Orofacial clefting syndrome' http://www.orpha.net/ORDO/Orphanet_1777 Temtamy syndrome 'Temtamy syndrome' SubClassOf 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' 'Temtamy syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Temtamy syndrome' SubClassOf 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' 'Temtamy syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Temtamy syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Temtamy syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016055 http://www.orpha.net/ORDO/Orphanet_1775 Dyskeratosis congenita 'Dyskeratosis congenita' SubClassOf 'Hereditary poikiloderma' 'Dyskeratosis congenita' SubClassOf 'Malformation syndrome with hamartosis' 'Dyskeratosis congenita' SubClassOf 'Inherited cancer-predisposing syndrome' 'Dyskeratosis congenita' SubClassOf 'Genetic hyperpigmentation of the skin' 'Dyskeratosis congenita' SubClassOf 'Excretory apparatus of the lacrimal system anomaly' 'Dyskeratosis congenita' SubClassOf 'Conjunctival tumor' 'Dyskeratosis congenita' SubClassOf 'Ectodermal dysplasia syndrome' 'Dyskeratosis congenita' SubClassOf 'Hereditary poikiloderma' 'Dyskeratosis congenita' SubClassOf 'Inherited cancer-predisposing syndrome' 'Dyskeratosis congenita' SubClassOf 'Genetic hyperpigmentation of the skin' 'Dyskeratosis congenita' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018035 'Dyskeratosis congenita' SubClassOf 'brain neoplasm' 'Dyskeratosis congenita' SubClassOf 'Genetic eye tumor' 'Dyskeratosis congenita' SubClassOf 'Conjunctival tumor' 'Dyskeratosis congenita' SubClassOf 'Ectodermal dysplasia syndrome' 'Dyskeratosis congenita' SubClassOf 'Genetic skin tumor' 'Dyskeratosis congenita' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002297 'Dyskeratosis congenita' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Dyskeratosis congenita' SubClassOf 'Malformation syndrome with hamartosis' 'Dyskeratosis congenita' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001713 'Dyskeratosis congenita' SubClassOf 'Excretory apparatus of the lacrimal system anomaly' 'Dyskeratosis congenita' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000577 'Dyskeratosis congenita' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002334 http://www.orpha.net/ORDO/Orphanet_1772 45,X/46,XY mixed gonadal dysgenesis '45,X/46,XY mixed gonadal dysgenesis' SubClassOf 'Male infertility due to gonadal dysgenesis' '45,X/46,XY mixed gonadal dysgenesis' SubClassOf 'Y chromosome number anomaly' '45,X/46,XY mixed gonadal dysgenesis' SubClassOf 'Sex chromosome disorder of sex development' '45,X/46,XY mixed gonadal dysgenesis' SubClassOf 'Gonadal dysgenesis of gynecological interest' '45,X/46,XY mixed gonadal dysgenesis' SubClassOf 'Male infertility due to gonadal dysgenesis' '45,X/46,XY mixed gonadal dysgenesis' SubClassOf 'Y chromosome number anomaly' '45,X/46,XY mixed gonadal dysgenesis' SubClassOf 'Female infertility due to gonadal dysgenesis' '45,X/46,XY mixed gonadal dysgenesis' SubClassOf 'Sex chromosome disorder of sex development' '45,X/46,XY mixed gonadal dysgenesis' SubClassOf 'Gonadal dysgenesis of gynecological interest' '45,X/46,XY mixed gonadal dysgenesis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001967 http://www.orpha.net/ORDO/Orphanet_849 Glanzmann thrombasthenia 'Glanzmann thrombasthenia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017142 http://www.orpha.net/ORDO/Orphanet_848 Beta-thalassemia 'Beta-thalassemia' SubClassOf 'Hematological disorder with renal involvement' 'Beta-thalassemia' SubClassOf 'Beta-thalassemia and related diseases' 'Beta-thalassemia' SubClassOf 'Thalassemia' 'Beta-thalassemia' SubClassOf 'Hematological disorder with renal involvement' 'Beta-thalassemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019844 'Beta-thalassemia' SubClassOf 'Beta-thalassemia and related diseases' http://www.orpha.net/ORDO/Orphanet_847 Alpha-thalassemia - X-linked intellectual disability syndrome 'Alpha-thalassemia - X-linked intellectual disability syndrome' SubClassOf 'Alpha-thalassemia-related diseases' 'Alpha-thalassemia - X-linked intellectual disability syndrome' SubClassOf 'Syndrome with 46,XY disorder of sex development' 'Alpha-thalassemia - X-linked intellectual disability syndrome' SubClassOf 'Syndrome with disorder of sex development of gynecological interest' 'Alpha-thalassemia - X-linked intellectual disability syndrome' SubClassOf 'ATR-X-related syndrome' 'Alpha-thalassemia - X-linked intellectual disability syndrome' SubClassOf 'Alpha-thalassemia-related diseases' 'Alpha-thalassemia - X-linked intellectual disability syndrome' SubClassOf 'Syndrome with 46,XY disorder of sex development' 'Alpha-thalassemia - X-linked intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000577 'Alpha-thalassemia - X-linked intellectual disability syndrome' SubClassOf 'Syndrome with disorder of sex development of gynecological interest' 'Alpha-thalassemia - X-linked intellectual disability syndrome' SubClassOf 'ATR-X-related syndrome' http://www.orpha.net/ORDO/Orphanet_846 Alpha-thalassemia 'Alpha-thalassemia' SubClassOf 'Alpha-thalassemia and related diseases' 'Alpha-thalassemia' SubClassOf 'Hematological disorder with renal involvement' 'Alpha-thalassemia' SubClassOf 'Alpha-thalassemia and related diseases' 'Alpha-thalassemia' SubClassOf 'Hematological disorder with renal involvement' 'Alpha-thalassemia' SubClassOf 'Thalassemia' http://www.orpha.net/ORDO/Orphanet_845 Tay-Sachs disease 'Tay-Sachs disease' SubClassOf 'Rare hereditary metabolic disease with peripheral neuropathy' 'Tay-Sachs disease' SubClassOf 'GM2 gangliosidosis' 'Tay-Sachs disease' SubClassOf 'Metabolic disease with macular cherry-red spot' 'Tay-Sachs disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044976 'Tay-Sachs disease' SubClassOf 'Rare hereditary metabolic disease with peripheral neuropathy' 'Tay-Sachs disease' SubClassOf 'GM2 gangliosidosis' 'Tay-Sachs disease' SubClassOf 'Metabolic disease with macular cherry-red spot' 'Tay-Sachs disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004884 'Tay-Sachs disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020143 http://purl.obolibrary.org/obo/BTO_0003147 obsolete_juvenile leaf 'obsolete_juvenile leaf' SubClassOf 'obsolete class' 'obsolete_juvenile leaf' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_313795 Jawad syndrome 'Jawad syndrome' SubClassOf 'Syndrome with microcephaly as major feature' 'Jawad syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Jawad syndrome' SubClassOf 'Syndrome with microcephaly as major feature' 'Jawad syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_2911 Poland syndrome 'Poland syndrome' SubClassOf 'Syndrome with brachydactyly' 'Poland syndrome' SubClassOf 'Syndrome with brachydactyly' 'Poland syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015856 http://purl.obolibrary.org/obo/HP_0000316 Hypertelorism 'Hypertelorism' SubClassOf 'Abnormality of the eye' 'Hypertelorism' SubClassOf 'Abnormality of the eye' http://www.orpha.net/ORDO/Orphanet_2909 Rothmund-Thomson syndrome 'Rothmund-Thomson syndrome' SubClassOf 'Ectodermal malformation syndrome associated with ocular features' 'Rothmund-Thomson syndrome' SubClassOf 'Dentocutaneous disease with cataract' 'Rothmund-Thomson syndrome' SubClassOf 'Genetic photodermatosis' 'Rothmund-Thomson syndrome' SubClassOf 'Hereditary poikiloderma' 'Rothmund-Thomson syndrome' SubClassOf 'Ectodermal malformation syndrome associated with ocular features' 'Rothmund-Thomson syndrome' SubClassOf 'Dentocutaneous disease with cataract' 'Rothmund-Thomson syndrome' SubClassOf 'Inherited cancer-predisposing syndrome' 'Rothmund-Thomson syndrome' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'Rothmund-Thomson syndrome' SubClassOf 'Rare genetic neurological disorder' 'Rothmund-Thomson syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019304 'Rothmund-Thomson syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 'Rothmund-Thomson syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Rothmund-Thomson syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015333 'Rothmund-Thomson syndrome' SubClassOf 'Genetic photodermatosis' 'Rothmund-Thomson syndrome' SubClassOf 'Hereditary poikiloderma' http://purl.obolibrary.org/obo/HP_0000322 Short philtrum 'Short philtrum' SubClassOf 'abnormality of the mouth' 'Short philtrum' SubClassOf 'abnormality of the mouth' http://purl.obolibrary.org/obo/HP_0001653 Mitral regurgitation 'Mitral regurgitation' SubClassOf 'Abnormality of the cardiovascular system' 'Mitral regurgitation' SubClassOf 'Abnormality of the cardiovascular system' http://www.orpha.net/ORDO/Orphanet_289365 Familial vesicoureteral reflux 'Familial vesicoureteral reflux' SubClassOf 'Genetic urogenital tract malformation' 'Familial vesicoureteral reflux' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003847 'Familial vesicoureteral reflux' SubClassOf 'vesicoureteral reflux' 'Familial vesicoureteral reflux' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015934 'Familial vesicoureteral reflux' SubClassOf 'disease of genitourinary system' 'Familial vesicoureteral reflux' EquivalentTo 'vesicoureteral reflux' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) http://www.orpha.net/ORDO/Orphanet_2908 Kindler syndrome 'Kindler syndrome' SubClassOf 'Inherited epidermolysis bullosa' 'Kindler syndrome' SubClassOf 'Inherited epidermolysis bullosa' http://www.orpha.net/ORDO/Orphanet_2907 Hereditary acrokeratotic poikiloderma, Weary type 'Hereditary acrokeratotic poikiloderma, Weary type' SubClassOf 'Hereditary acrokeratotic poikiloderma of Kindler-Weary' 'Hereditary acrokeratotic poikiloderma, Weary type' SubClassOf 'Kindler syndrome' http://purl.obolibrary.org/obo/CLO_0030105 ND00022 'ND00022' SubClassOf 'cultured cell' 'ND00022' SubClassOf 'has_quality' some 'male' 'ND00022' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/HP_0002980 Femoral bowing 'Femoral bowing' SubClassOf 'Bowing of the long bones' 'Femoral bowing' SubClassOf 'Bowing of the long bones' http://www.orpha.net/ORDO/Orphanet_2903 Familial spontaneous pneumothorax 'Familial spontaneous pneumothorax' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002076 'Familial spontaneous pneumothorax' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015118 http://www.orpha.net/ORDO/Orphanet_240094 Progressive supranuclear palsy - pure akinesia with gait freezing 'Progressive supranuclear palsy - pure akinesia with gait freezing' SubClassOf 'Atypical progressive supranuclear palsy' 'Progressive supranuclear palsy - pure akinesia with gait freezing' SubClassOf 'Atypical progressive supranuclear palsy' http://www.orpha.net/ORDO/Orphanet_2921 Preaxial polydactyly - colobomata - intellectual disability 'Preaxial polydactyly - colobomata - intellectual disability' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Preaxial polydactyly - colobomata - intellectual disability' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Preaxial polydactyly - colobomata - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Preaxial polydactyly - colobomata - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 http://www.orpha.net/ORDO/Orphanet_2920 Oliver syndrome 'Oliver syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Oliver syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Oliver syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Oliver syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Oliver syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Oliver syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/HP_0002987 Elbow flexion contracture 'Elbow flexion contracture' SubClassOf 'Abnormality of connective tissue' 'Elbow flexion contracture' SubClassOf 'Abnormality of connective tissue' http://www.orpha.net/ORDO/Orphanet_289377 Early-onset myopathy with fatal cardiomyopathy 'Early-onset myopathy with fatal cardiomyopathy' SubClassOf 'Non-dystrophic myopathy' 'Early-onset myopathy with fatal cardiomyopathy' SubClassOf 'Qualitative or quantitative defects of titin' 'Early-onset myopathy with fatal cardiomyopathy' SubClassOf 'Neuromuscular disease with dilated cardiomyopathy' 'Early-onset myopathy with fatal cardiomyopathy' SubClassOf 'Non-dystrophic myopathy' 'Early-onset myopathy with fatal cardiomyopathy' SubClassOf 'Qualitative or quantitative defects of titin' 'Early-onset myopathy with fatal cardiomyopathy' SubClassOf 'Neuromuscular disease with dilated cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_2919 Orofaciodigital syndrome type 5 'Orofaciodigital syndrome type 5' SubClassOf 'Orofaciodigital syndrome' 'Orofaciodigital syndrome type 5' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Orofaciodigital syndrome type 5' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Orofaciodigital syndrome type 5' SubClassOf 'Orofaciodigital syndrome' http://www.orpha.net/ORDO/Orphanet_324442 Autosomal recessive axonal neuropathy with neuromyotonia 'Autosomal recessive axonal neuropathy with neuromyotonia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019601 'Autosomal recessive axonal neuropathy with neuromyotonia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 http://www.orpha.net/ORDO/Orphanet_300496 Multiple congenital anomalies-hypotonia-seizures syndrome type 2 'Multiple congenital anomalies-hypotonia-seizures syndrome type 2' SubClassOf 'Congenital disorder of glycosylation with developmental anomaly' 'Multiple congenital anomalies-hypotonia-seizures syndrome type 2' SubClassOf 'Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' 'Multiple congenital anomalies-hypotonia-seizures syndrome type 2' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Multiple congenital anomalies-hypotonia-seizures syndrome type 2' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' 'Multiple congenital anomalies-hypotonia-seizures syndrome type 2' SubClassOf 'Congenital disorder of glycosylation with developmental anomaly' 'Multiple congenital anomalies-hypotonia-seizures syndrome type 2' SubClassOf 'Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' 'Multiple congenital anomalies-hypotonia-seizures syndrome type 2' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Multiple congenital anomalies-hypotonia-seizures syndrome type 2' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' 'Multiple congenital anomalies-hypotonia-seizures syndrome type 2' SubClassOf 'Early infantile epileptic encephalopathy' 'Multiple congenital anomalies-hypotonia-seizures syndrome type 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Multiple congenital anomalies-hypotonia-seizures syndrome type 2' SubClassOf 'Rare syndromic dyslipidemia' http://www.orpha.net/ORDO/Orphanet_2917 Polydactyly-myopia syndrome 'Polydactyly-myopia syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Polydactyly-myopia syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' http://www.orpha.net/ORDO/Orphanet_2916 Postaxial polydactyly - dental and vertebral anomalies 'Postaxial polydactyly - dental and vertebral anomalies' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Postaxial polydactyly - dental and vertebral anomalies' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' http://www.orpha.net/ORDO/Orphanet_2913 Polydactyly 'Polydactyly' SubClassOf 'Non-syndromic polydactyly, syndactyly and/or hyperphalangy' 'Polydactyly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021003 'Polydactyly' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0021003 and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021128) 'Polydactyly' SubClassOf 'Non-syndromic polydactyly, syndactyly and/or hyperphalangy' 'Polydactyly' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021128 http://purl.obolibrary.org/obo/MONDO_0002254 DisjointWith 'Polydactyly' http://www.orpha.net/ORDO/Orphanet_93101 Renal hypoplasia 'Renal hypoplasia' SubClassOf 'Genetic non-syndromic renal or urinary tract malformation' 'Renal hypoplasia' SubClassOf 'Genetic non-syndromic renal or urinary tract malformation' http://www.orpha.net/ORDO/Orphanet_93100 Unilateral renal agenesis 'Unilateral renal agenesis' SubClassOf 'Genetic non-syndromic renal or urinary tract malformation' 'Unilateral renal agenesis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018470 http://www.orpha.net/ORDO/Orphanet_93108 Renal dysplasia 'Renal dysplasia' SubClassOf 'Genetic non-syndromic renal or urinary tract malformation' 'Renal dysplasia' SubClassOf 'Genetic non-syndromic renal or urinary tract malformation' http://www.orpha.net/ORDO/Orphanet_313772 Early-onset spastic ataxia-neuropathy syndrome 'Early-onset spastic ataxia-neuropathy syndrome' SubClassOf 'Autosomal recessive spastic ataxia' 'Early-onset spastic ataxia-neuropathy syndrome' SubClassOf 'Mitochondrial DNA depletion syndrome' 'Early-onset spastic ataxia-neuropathy syndrome' SubClassOf 'Metabolic disease with dementia' 'Early-onset spastic ataxia-neuropathy syndrome' SubClassOf 'Autosomal recessive spastic ataxia' 'Early-onset spastic ataxia-neuropathy syndrome' SubClassOf 'Mitochondrial DNA depletion syndrome' http://www.orpha.net/ORDO/Orphanet_289380 Myosclerosis 'Myosclerosis' SubClassOf 'Non-dystrophic myopathy with collagen 6 anomaly' 'Myosclerosis' SubClassOf 'Non-dystrophic myopathy with collagen 6 anomaly' http://www.orpha.net/ORDO/Orphanet_2934 Polysyndactyly - cardiac malformation 'Polysyndactyly - cardiac malformation' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Polysyndactyly - cardiac malformation' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_1600 Monosomy 18q 'Monosomy 18q' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 http://www.orpha.net/ORDO/Orphanet_2930 Cronkhite-Canada syndrome 'Cronkhite-Canada syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Cronkhite-Canada syndrome' SubClassOf 'digestive system disease' 'Cronkhite-Canada syndrome' SubClassOf 'skin neoplasm' 'Cronkhite-Canada syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Cronkhite-Canada syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015185 http://www.orpha.net/ORDO/Orphanet_2929 Juvenile polyposis syndrome 'Juvenile polyposis syndrome' SubClassOf 'Genetic intestinal polyposis' 'Juvenile polyposis syndrome' SubClassOf 'Inherited cancer-predisposing syndrome' 'Juvenile polyposis syndrome' SubClassOf 'Genetic intestinal polyposis' 'Juvenile polyposis syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015185 http://www.orpha.net/ORDO/Orphanet_2928 Polyneuropathy - intellectual disability - acromicria - premature menopause 'Polyneuropathy - intellectual disability - acromicria - premature menopause' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Polyneuropathy - intellectual disability - acromicria - premature menopause' SubClassOf 'disease has feature' some 'premature menopause' 'Polyneuropathy - intellectual disability - acromicria - premature menopause' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 http://www.orpha.net/ORDO/Orphanet_2926 Polyneuropathy - hand defect 'Polyneuropathy - hand defect' SubClassOf 'Hereditary motor and sensory neuropathy' 'Polyneuropathy - hand defect' SubClassOf 'Hereditary motor and sensory neuropathy' 'Polyneuropathy - hand defect' SubClassOf 'Hereditary sensory and autonomic neuropathy' http://www.orpha.net/ORDO/Orphanet_2925 Polymicrogyria - turricephaly - hypogenitalism 'Polymicrogyria - turricephaly - hypogenitalism' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Polymicrogyria - turricephaly - hypogenitalism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 http://www.orpha.net/ORDO/Orphanet_2924 Isolated polycystic liver disease 'Isolated polycystic liver disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000447 'Isolated polycystic liver disease' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021128 'Isolated polycystic liver disease' SubClassOf 'Genetic biliary tract disease' 'Isolated polycystic liver disease' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0000447 and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021128) http://www.orpha.net/ORDO/Orphanet_240071 Classical progressive supranuclear palsy 'Classical progressive supranuclear palsy' SubClassOf 'Progressive supranuclear palsy' 'Classical progressive supranuclear palsy' SubClassOf 'Progressive supranuclear palsy' http://www.orpha.net/ORDO/Orphanet_93111 Renal cysts and diabetes syndrome 'Renal cysts and diabetes syndrome' SubClassOf 'Rare genetic diabetes mellitus' 'Renal cysts and diabetes syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Renal cysts and diabetes syndrome' SubClassOf 'MODY' 'Renal cysts and diabetes syndrome' SubClassOf 'Developmental anomaly of metabolic origin' 'Renal cysts and diabetes syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' http://www.orpha.net/ORDO/Orphanet_93110 Posterior urethral valve 'Posterior urethral valve' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018559 'Posterior urethral valve' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015619 http://www.orpha.net/ORDO/Orphanet_313781 20p13 microdeletion syndrome '20p13 microdeletion syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '20p13 microdeletion syndrome' SubClassOf 'Partial monosomy of the short arm of chromosome 20' '20p13 microdeletion syndrome' SubClassOf 'Rare genetic neurological disorder' '20p13 microdeletion syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '20p13 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 '20p13 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 '20p13 microdeletion syndrome' SubClassOf 'Partial monosomy of the short arm of chromosome 20' http://www.orpha.net/ORDO/Orphanet_93114 Autosomal dominant intermediate Charcot-Marie-Tooth disease type E 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type E' SubClassOf 'Primary glomerular disease' 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type E' SubClassOf 'Autosomal dominant intermediate Charcot-Marie-Tooth disease' 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type E' SubClassOf 'Primary glomerular disease' 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type E' SubClassOf 'Autosomal dominant intermediate Charcot-Marie-Tooth disease' http://purl.obolibrary.org/obo/HP_0000347 Micrognathia 'Micrognathia' SubClassOf 'Abnormality of the mandible' 'Micrognathia' SubClassOf 'Abnormality of the mandible' http://purl.obolibrary.org/obo/HP_0000348 High forehead 'High forehead' SubClassOf 'abnormality of the face' 'High forehead' SubClassOf 'abnormality of the face' http://purl.obolibrary.org/obo/HP_0001679 abnormality of the aorta 'abnormality of the aorta' SubClassOf 'has part' some ('quality' and ('has component' some 'abnormal') and ('inheres in part of' some 'aorta')) http://www.orpha.net/ORDO/Orphanet_2940 Porencephaly 'Porencephaly' SubClassOf 'Encephaloclastic disorder' 'Porencephaly' SubClassOf 'disease has feature' some http://purl.obolibrary.org/obo/MONDO_0100035 'Porencephaly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018790 'Porencephaly' SubClassOf 'Encephaloclastic disorder' http://purl.obolibrary.org/obo/HP_0000356 Abnormality of the outer ear 'Abnormality of the outer ear' EquivalentTo 'has part' some ('quality' and ('has component' some 'abnormal') and ('inheres in part of' some 'external ear')) http://www.orpha.net/ORDO/Orphanet_324422 ALG13-CDG 'ALG13-CDG' SubClassOf 'Congenital disorder of glycosylation with hepatic involvement' 'ALG13-CDG' SubClassOf 'Disorder of protein N-glycosylation' 'ALG13-CDG' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' 'ALG13-CDG' SubClassOf 'congenital disorder of glycosylation type I' 'ALG13-CDG' SubClassOf 'Congenital disorder of glycosylation with hepatic involvement' 'ALG13-CDG' SubClassOf 'Disorder of protein N-glycosylation' 'ALG13-CDG' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' http://www.orpha.net/ORDO/Orphanet_1606 1p36 deletion syndrome '1p36 deletion syndrome' SubClassOf 'Syndrome associated with dilated cardiomyopathy' '1p36 deletion syndrome' SubClassOf 'Partial deletion of the short arm of chromosome 1' '1p36 deletion syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000761 '1p36 deletion syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015652 '1p36 deletion syndrome' SubClassOf 'Syndrome associated with dilated cardiomyopathy' '1p36 deletion syndrome' SubClassOf 'Partial deletion of the short arm of chromosome 1' http://www.orpha.net/ORDO/Orphanet_2935 Crossed polysyndactyly 'Crossed polysyndactyly' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Crossed polysyndactyly' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' http://purl.obolibrary.org/obo/CHEBI_8551 Protein N6,N6,N6-trimethyl-L-lysine 'Protein N6,N6,N6-trimethyl-L-lysine' SubClassOf 'chemical entity' 'Protein N6,N6,N6-trimethyl-L-lysine' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_240085 Progressive supranuclear palsy - parkinsonism 'Progressive supranuclear palsy - parkinsonism' SubClassOf 'Atypical progressive supranuclear palsy' 'Progressive supranuclear palsy - parkinsonism' SubClassOf 'Atypical progressive supranuclear palsy' http://www.orpha.net/ORDO/Orphanet_95700 Familial adrenal hypoplasia with absent pituitary luteinizing hormone 'Familial adrenal hypoplasia with absent pituitary luteinizing hormone' SubClassOf 'Hypogonadotropic hypogonadism associated with other endocrinopathies' 'Familial adrenal hypoplasia with absent pituitary luteinizing hormone' SubClassOf 'Syndrome with 46,XY disorder of sex development' 'Familial adrenal hypoplasia with absent pituitary luteinizing hormone' SubClassOf 'Genetic chronic primary adrenal insufficiency' 'Familial adrenal hypoplasia with absent pituitary luteinizing hormone' SubClassOf 'Hypogonadotropic hypogonadism associated with other endocrinopathies' 'Familial adrenal hypoplasia with absent pituitary luteinizing hormone' SubClassOf 'Syndrome with 46,XY disorder of sex development' 'Familial adrenal hypoplasia with absent pituitary luteinizing hormone' SubClassOf 'Genetic chronic primary adrenal insufficiency' http://www.orpha.net/ORDO/Orphanet_95702 Cytomegalic congenital adrenal hypoplasia 'Cytomegalic congenital adrenal hypoplasia' SubClassOf 'Hypogonadotropic hypogonadism associated with other endocrinopathies' 'Cytomegalic congenital adrenal hypoplasia' SubClassOf 'Genetic chronic primary adrenal insufficiency' 'Cytomegalic congenital adrenal hypoplasia' SubClassOf 'Hypogonadotropic hypogonadism associated with other endocrinopathies' 'Cytomegalic congenital adrenal hypoplasia' SubClassOf 'Genetic chronic primary adrenal insufficiency' 'Cytomegalic congenital adrenal hypoplasia' SubClassOf 'Alternating hemiplegia of childhood' 'Cytomegalic congenital adrenal hypoplasia' SubClassOf 'adrenocortical insufficiency' http://www.orpha.net/ORDO/Orphanet_324410 X-linked intellectual disability - cardiomegaly - congestive heart failure 'X-linked intellectual disability - cardiomegaly - congestive heart failure' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability - cardiomegaly - congestive heart failure' SubClassOf 'Genetic cardiac rhythm disease' 'X-linked intellectual disability - cardiomegaly - congestive heart failure' SubClassOf 'Genetic cardiac rhythm disease' 'X-linked intellectual disability - cardiomegaly - congestive heart failure' SubClassOf 'X-linked syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_324416 Muscular hypertrophy - hepatomegaly - polyhydramnios 'Muscular hypertrophy - hepatomegaly - polyhydramnios' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Muscular hypertrophy - hepatomegaly - polyhydramnios' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_95719 Thyroid hemiagenesis 'Thyroid hemiagenesis' SubClassOf 'Congenital hypothyroidism due to developmental anomaly' 'Thyroid hemiagenesis' SubClassOf 'Generalized resistance to thyroid hormone' 'Thyroid hemiagenesis' SubClassOf 'Syndromic hypothyroidism' 'Thyroid hemiagenesis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019859 'Thyroid hemiagenesis' SubClassOf 'Congenital hypothyroidism due to developmental anomaly' http://www.orpha.net/ORDO/Orphanet_95710 Non-acquired premature ovarian failure 'Non-acquired premature ovarian failure' SubClassOf 'ovarian disease' 'Non-acquired premature ovarian failure' SubClassOf 'Anomaly of puberty or/and menstrual cycle of genetic origin' 'Non-acquired premature ovarian failure' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019590 'Non-acquired premature ovarian failure' EquivalentTo 'primary ovarian insufficiency' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) 'Non-acquired premature ovarian failure' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015514 'Non-acquired premature ovarian failure' SubClassOf 'has_disease_location' some 'female gonad' 'Non-acquired premature ovarian failure' SubClassOf 'primary ovarian insufficiency' 'Non-acquired premature ovarian failure' SubClassOf 'Anomaly of puberty or/and menstrual cycle of genetic origin' http://www.orpha.net/ORDO/Orphanet_95711 Congenital hypothyroidism due to developmental anomaly 'Congenital hypothyroidism due to developmental anomaly' SubClassOf 'Primary congenital hypothyroidism' 'Congenital hypothyroidism due to developmental anomaly' SubClassOf 'Primary congenital hypothyroidism' http://www.orpha.net/ORDO/Orphanet_95712 Thyroid ectopia 'Thyroid ectopia' SubClassOf 'Congenital hypothyroidism due to developmental anomaly' 'Thyroid ectopia' SubClassOf 'Congenital hypothyroidism due to developmental anomaly' 'Thyroid ectopia' SubClassOf 'Generalized resistance to thyroid hormone' 'Thyroid ectopia' SubClassOf 'Syndromic hypothyroidism' http://purl.obolibrary.org/obo/HP_0002944 Thoracolumbar scoliosis 'Thoracolumbar scoliosis' SubClassOf 'scoliosis' 'Thoracolumbar scoliosis' SubClassOf 'scoliosis' http://www.orpha.net/ORDO/Orphanet_95713 Athyreosis 'Athyreosis' SubClassOf 'Congenital hypothyroidism due to developmental anomaly' 'Athyreosis' SubClassOf 'Congenital hypothyroidism due to developmental anomaly' 'Athyreosis' SubClassOf 'Syndromic hypothyroidism' 'Athyreosis' SubClassOf 'Generalized resistance to thyroid hormone' http://www.orpha.net/ORDO/Orphanet_95714 Primary congenital hypothyroidism without thyroid developmental anomaly 'Primary congenital hypothyroidism without thyroid developmental anomaly' SubClassOf 'Primary congenital hypothyroidism' 'Primary congenital hypothyroidism without thyroid developmental anomaly' SubClassOf 'Primary congenital hypothyroidism' http://www.orpha.net/ORDO/Orphanet_95716 Familial thyroid dyshormonogenesis 'Familial thyroid dyshormonogenesis' SubClassOf 'Primary congenital hypothyroidism without thyroid developmental anomaly' 'Familial thyroid dyshormonogenesis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024297 'Familial thyroid dyshormonogenesis' SubClassOf 'Primary congenital hypothyroidism without thyroid developmental anomaly' 'Familial thyroid dyshormonogenesis' SubClassOf 'metabolic disease' http://purl.obolibrary.org/obo/UBERON_0022353 posterior cingulate cortex 'posterior cingulate cortex' SubClassOf 'cingulate cortex' 'posterior cingulate cortex' SubClassOf 'cingulate cortex' http://www.orpha.net/ORDO/Orphanet_95720 Thyroid hypoplasia 'Thyroid hypoplasia' SubClassOf 'Congenital hypothyroidism due to developmental anomaly' 'Thyroid hypoplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019859 'Thyroid hypoplasia' SubClassOf 'Congenital hypothyroidism due to developmental anomaly' 'Thyroid hypoplasia' SubClassOf 'Generalized resistance to thyroid hormone' 'Thyroid hypoplasia' SubClassOf 'Syndromic hypothyroidism' http://www.orpha.net/ORDO/Orphanet_276061 Genetic frontotemporal degeneration with dementia 'Genetic frontotemporal degeneration with dementia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020136 http://www.orpha.net/ORDO/Orphanet_276066 Bile acid CoA ligase deficiency and defective amidation 'Bile acid CoA ligase deficiency and defective amidation' SubClassOf 'Bile acid synthesis defect with cholestasis and malabsorption' 'Bile acid CoA ligase deficiency and defective amidation' SubClassOf 'Bile acid synthesis defect with cholestasis and malabsorption' http://purl.obolibrary.org/obo/HP_0001626 Abnormality of the cardiovascular system 'Abnormality of the cardiovascular system' SubClassOf 'has part' some ('quality' and ('has component' some 'abnormal') and ('inheres in part of' some 'cardiovascular system')) http://www.orpha.net/ORDO/Orphanet_70470 Hyperlipoproteinemia type 5 'Hyperlipoproteinemia type 5' SubClassOf 'Major hypertriglyceridemia' 'Hyperlipoproteinemia type 5' SubClassOf 'Major hypertriglyceridemia' 'Hyperlipoproteinemia type 5' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001336 http://www.orpha.net/ORDO/Orphanet_70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 'Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018859 http://purl.obolibrary.org/obo/CHEBI_8502 6-propyl-2-thiouracil '6-propyl-2-thiouracil' SubClassOf 'has_role' some 'drug role' http://www.orpha.net/ORDO/Orphanet_70474 Leigh syndrome with cardiomyopathy 'Leigh syndrome with cardiomyopathy' SubClassOf 'disease has feature' some 'cardiomyopathy' 'Leigh syndrome with cardiomyopathy' EquivalentTo 'Leigh syndrome' and ('disease has feature' some 'cardiomyopathy') http://www.orpha.net/ORDO/Orphanet_276058 Genetic neurodegenerative disease with dementia 'Genetic neurodegenerative disease with dementia' SubClassOf 'Genetic dementia' 'Genetic neurodegenerative disease with dementia' SubClassOf 'Genetic neurodegenerative disease' 'Genetic neurodegenerative disease with dementia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020136 'Genetic neurodegenerative disease with dementia' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0020136 and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) 'Genetic neurodegenerative disease with dementia' SubClassOf 'Genetic dementia' 'Genetic neurodegenerative disease with dementia' SubClassOf 'realized_in' some ('disease course' and ('has part' some 'neurodegeneration')) 'Genetic neurodegenerative disease with dementia' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_2900 Leri pleonosteosis 'Leri pleonosteosis' SubClassOf 'Syndrome with synostosis or other joint formation defect' 'Leri pleonosteosis' SubClassOf 'Syndrome with synostosis or other joint formation defect' http://purl.obolibrary.org/obo/HP_0001634 Mitral valve prolapse 'Mitral valve prolapse' SubClassOf 'has part' some ('quality' and ('has component' some 'abnormal') and ('inheres in part of' some 'mitral valve')) http://purl.obolibrary.org/obo/HP_0001642 Pulmonic stenosis 'Pulmonic stenosis' SubClassOf 'Abnormality of cardiovascular system morphology' 'Pulmonic stenosis' SubClassOf 'Abnormality of cardiovascular system morphology' http://purl.obolibrary.org/obo/HP_0001643 Patent ductus arteriosus 'Patent ductus arteriosus' SubClassOf 'Abnormality of cardiovascular system morphology' 'Patent ductus arteriosus' SubClassOf 'Abnormality of cardiovascular system morphology' http://www.orpha.net/ORDO/Orphanet_325713 Genetic 46,XY disorder of sex development of endocrine origin 'Genetic 46,XY disorder of sex development of endocrine origin' SubClassOf 'Genetic 46,XY disorder of sex development' 'Genetic 46,XY disorder of sex development of endocrine origin' SubClassOf 'Genetic 46,XY disorder of sex development' http://www.orpha.net/ORDO/Orphanet_228366 CLN7 disease 'CLN7 disease' SubClassOf 'Late infantile neuronal ceroid lipofuscinosis' 'CLN7 disease' SubClassOf 'Late infantile neuronal ceroid lipofuscinosis' http://www.ebi.ac.uk/efo/EFO_1000741 neurotic excoriation 'neurotic excoriation' SubClassOf 'skin disease' 'neurotic excoriation' SubClassOf 'skin disease' 'neurotic excoriation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002406 http://www.ebi.ac.uk/efo/EFO_1000742 nodular nonsuppurative panniculitis 'nodular nonsuppurative panniculitis' SubClassOf 'panniculitis' 'nodular nonsuppurative panniculitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019296 'nodular nonsuppurative panniculitis' SubClassOf 'panniculitis' http://www.ebi.ac.uk/efo/EFO_1000740 neurodermatitis 'neurodermatitis' SubClassOf 'skin disease' 'neurodermatitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002406 'neurodermatitis' SubClassOf 'skin disease' http://www.ebi.ac.uk/efo/EFO_0003800 interleukin-17 (Mus musculus) 'interleukin-17 (Mus musculus)' SubClassOf 'derives_from' some 'Mus musculus' http://www.ebi.ac.uk/efo/EFO_0003801 interleukin-19 (Homo sapiens) 'interleukin-19 (Homo sapiens)' SubClassOf 'derives_from' some 'Homo sapiens' http://purl.obolibrary.org/obo/CL_0000449 obsolete_brown fat cell 'obsolete_brown fat cell' SubClassOf 'obsolete class' 'obsolete_brown fat cell' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/CL_0000451 dendritic cell 'dendritic cell' SubClassOf 'located_in' some 'hematopoietic system' http://www.ebi.ac.uk/efo/EFO_0003804 interleukin-21 (Mus musculus) 'interleukin-21 (Mus musculus)' SubClassOf 'derives_from' some 'Mus musculus' http://www.ebi.ac.uk/efo/EFO_1000749 pemphigus 'pemphigus' SubClassOf 'autoimmune bullous skin disease' 'pemphigus' SubClassOf 'bullous skin disease' 'pemphigus' SubClassOf 'autoimmune bullous skin disease' http://www.ebi.ac.uk/efo/EFO_0003805 interleukin-24 (Homo sapiens) 'interleukin-24 (Homo sapiens)' SubClassOf 'derives_from' some 'Homo sapiens' http://www.ebi.ac.uk/efo/EFO_0003802 refractory anemia 'refractory anemia' SubClassOf 'myelodysplastic syndrome' 'refractory anemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019453 http://www.ebi.ac.uk/efo/EFO_1000747 parapsoriasis 'parapsoriasis' SubClassOf 'psoriasis' 'parapsoriasis' SubClassOf 'psoriasis' http://www.ebi.ac.uk/efo/EFO_0003803 interleukin-20 (Homo sapiens) 'interleukin-20 (Homo sapiens)' SubClassOf 'derives_from' some 'Homo sapiens' http://www.ebi.ac.uk/efo/EFO_1000748 pelvic lipomatosis 'pelvic lipomatosis' SubClassOf 'lipomatosis' 'pelvic lipomatosis' SubClassOf 'has_disease_location' some ('pelvis' or ('part_of' some 'pelvis')) 'pelvic lipomatosis' SubClassOf 'lipomatosis' http://www.ebi.ac.uk/efo/EFO_1000745 palmoplantar keratosis 'palmoplantar keratosis' SubClassOf 'keratosis' 'palmoplantar keratosis' SubClassOf 'keratosis' http://www.ebi.ac.uk/efo/EFO_1000746 panniculitis 'panniculitis' SubClassOf 'skin disease' 'panniculitis' SubClassOf 'connective tissue disease' 'panniculitis' SubClassOf 'skin disease' 'panniculitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021166 http://www.ebi.ac.uk/efo/EFO_0003806 interleukin-26 (Homo sapiens) 'interleukin-26 (Homo sapiens)' SubClassOf 'derives_from' some 'Homo sapiens' http://www.ebi.ac.uk/efo/EFO_1000743 obsolete_nonepidermolytic palmoplantar keratoderma 'obsolete_nonepidermolytic palmoplantar keratoderma' SubClassOf 'obsolete class' 'obsolete_nonepidermolytic palmoplantar keratoderma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003807 interleukin-33 (Rattus norvegicus) 'interleukin-33 (Rattus norvegicus)' SubClassOf 'derives_from' some 'Rattus norvegicus' http://www.ebi.ac.uk/efo/EFO_1000744 occupational dermatitis 'occupational dermatitis' SubClassOf 'contact dermatitis' 'occupational dermatitis' SubClassOf 'contact dermatitis' http://www.orpha.net/ORDO/Orphanet_228363 CLN6 disease 'CLN6 disease' SubClassOf 'Adult neuronal ceroid lipofuscinosis' 'CLN6 disease' SubClassOf 'Late infantile neuronal ceroid lipofuscinosis' 'CLN6 disease' SubClassOf 'CLN4A disease' 'CLN6 disease' SubClassOf 'Late infantile neuronal ceroid lipofuscinosis' http://www.orpha.net/ORDO/Orphanet_93173 Bilateral renal dysplasia 'Bilateral renal dysplasia' SubClassOf 'Renal dysplasia' 'Bilateral renal dysplasia' SubClassOf 'Renal dysplasia' http://www.orpha.net/ORDO/Orphanet_228360 CLN5 disease 'CLN5 disease' SubClassOf 'Late infantile neuronal ceroid lipofuscinosis' 'CLN5 disease' SubClassOf 'Late infantile neuronal ceroid lipofuscinosis' http://www.orpha.net/ORDO/Orphanet_93172 Unilateral renal dysplasia 'Unilateral renal dysplasia' SubClassOf 'Renal dysplasia' 'Unilateral renal dysplasia' SubClassOf 'Renal dysplasia' http://www.orpha.net/ORDO/Orphanet_279943 Hereditary neutrophilia 'Hereditary neutrophilia' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Hereditary neutrophilia' SubClassOf 'has_disease_location' some 'neutrophil' 'Hereditary neutrophilia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004805 http://www.orpha.net/ORDO/Orphanet_228354 CLN8 disease 'CLN8 disease' SubClassOf 'Late infantile neuronal ceroid lipofuscinosis' 'CLN8 disease' SubClassOf 'Juvenile neuronal ceroid lipofuscinosis' 'CLN8 disease' SubClassOf 'Late infantile neuronal ceroid lipofuscinosis' 'CLN8 disease' SubClassOf 'Juvenile neuronal ceroid lipofuscinosis' http://www.orpha.net/ORDO/Orphanet_228357 CLN9 disease 'CLN9 disease' SubClassOf 'Juvenile neuronal ceroid lipofuscinosis' 'CLN9 disease' SubClassOf 'Juvenile neuronal ceroid lipofuscinosis' http://www.ebi.ac.uk/efo/EFO_1000752 photosensitivity disease 'photosensitivity disease' SubClassOf 'skin disease' 'photosensitivity disease' SubClassOf 'allergy' 'photosensitivity disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002406 'photosensitivity disease' SubClassOf 'disease' and ('has_disease_location' some ('zone of skin' or ('part_of' some 'zone of skin'))) 'photosensitivity disease' SubClassOf 'allergy' http://purl.obolibrary.org/obo/NCBITaxon_143451 Plasmopara viticola 'Plasmopara viticola' SubClassOf 'Oomycetes' 'Plasmopara viticola' SubClassOf 'Oomycetes' http://www.ebi.ac.uk/efo/EFO_1000753 phototoxic dermatitis 'phototoxic dermatitis' SubClassOf 'photosensitivity disease' 'phototoxic dermatitis' SubClassOf 'irritant dermatitis' 'phototoxic dermatitis' SubClassOf 'photosensitivity disease' http://purl.obolibrary.org/obo/CHEBI_70749 O-hexanoylcarnitine 'O-hexanoylcarnitine' SubClassOf 'lipid' 'O-hexanoylcarnitine' SubClassOf 'lipid' http://www.ebi.ac.uk/efo/EFO_1000750 perinatal jaundice due to hepatocellular damage 'perinatal jaundice due to hepatocellular damage' SubClassOf 'neonatal jaundice' 'perinatal jaundice due to hepatocellular damage' SubClassOf 'neonatal jaundice' http://www.ebi.ac.uk/efo/EFO_1000751 obsolete_photoallergic dermatitis 'obsolete_photoallergic dermatitis' SubClassOf 'obsolete class' 'obsolete_photoallergic dermatitis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000758 punctate palmoplantar keratoderma type III 'punctate palmoplantar keratoderma type III' SubClassOf 'Punctate palmoplantar keratoderma' 'punctate palmoplantar keratoderma type III' SubClassOf 'Punctate palmoplantar keratoderma' 'punctate palmoplantar keratoderma type III' SubClassOf 'Genetic dermis elastic tissue disorder' 'punctate palmoplantar keratoderma type III' SubClassOf 'Marginal papular palmoplantar keratoderma' 'punctate palmoplantar keratoderma type III' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019271 http://www.ebi.ac.uk/efo/EFO_1000759 reactive cutaneous fibrous lesion 'reactive cutaneous fibrous lesion' SubClassOf 'skin disease' 'reactive cutaneous fibrous lesion' SubClassOf 'skin disease' http://www.ebi.ac.uk/efo/EFO_1000756 pityriasis rosea 'pityriasis rosea' SubClassOf 'exanthem' 'psoriasis' DisjointWith 'pityriasis rosea' 'pityriasis rosea' SubClassOf 'exanthem' 'pityriasis rosea' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002406 http://www.ebi.ac.uk/efo/EFO_1000757 porokeratosis 'porokeratosis' SubClassOf 'keratosis' 'porokeratosis' SubClassOf 'keratosis' 'porokeratosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019268 http://www.ebi.ac.uk/efo/EFO_1000754 physical urticaria 'physical urticaria' SubClassOf 'urticaria' 'physical urticaria' SubClassOf 'urticaria' http://www.ebi.ac.uk/efo/EFO_1000755 pigmentation disease 'pigmentation disease' SubClassOf 'skin disease' 'pigmentation disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021195 'pigmentation disease' SubClassOf 'skin disease' http://www.orpha.net/ORDO/Orphanet_228387 Spondylo-megaepiphyseal-metaphyseal dysplasia 'Spondylo-megaepiphyseal-metaphyseal dysplasia' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Spondylo-megaepiphyseal-metaphyseal dysplasia' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_279934 Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency 'Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency' SubClassOf 'Mitochondrial DNA depletion syndrome, hepatocerebral form' 'Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency' SubClassOf 'Disorder of purine metabolism' 'Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency' SubClassOf 'Mitochondrial DNA depletion syndrome, hepatocerebral form' 'Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency' SubClassOf 'Disorder of purine metabolism' http://www.ebi.ac.uk/efo/EFO_1000763 sebaceous gland disease 'sebaceous gland disease' SubClassOf 'skin disease' 'sebaceous gland disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002917 'sebaceous gland disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024481 'sebaceous gland disease' SubClassOf 'skin disease' http://purl.obolibrary.org/obo/UBERON_6000186 embryonic optic lobe primordium 'embryonic optic lobe primordium' SubClassOf 'primordium' http://www.ebi.ac.uk/efo/EFO_1000764 seborrheic dermatitis 'seborrheic dermatitis' SubClassOf 'skin disease' 'seborrheic dermatitis' SubClassOf 'skin disease' 'seborrheic dermatitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002406 http://www.ebi.ac.uk/efo/EFO_1000761 scalp dermatosis 'scalp dermatosis' SubClassOf 'skin disease' 'scalp dermatosis' SubClassOf 'skin disease' http://www.ebi.ac.uk/efo/EFO_1000762 scleredema adultorum 'scleredema adultorum' SubClassOf 'skin disease' 'scleredema adultorum' SubClassOf 'skin disease' 'scleredema adultorum' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002523 http://www.ebi.ac.uk/efo/EFO_0003823 obsolete_spinal muscular atrophy 'obsolete_spinal muscular atrophy' SubClassOf 'obsolete class' 'obsolete_spinal muscular atrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000760 rosacea 'rosacea' SubClassOf 'skin disease' 'rosacea' SubClassOf 'skin disease' http://www.ebi.ac.uk/efo/EFO_0003820 bone neoplasm 'bone neoplasm' SubClassOf 'neoplasm' 'bone neoplasm' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021581 'bone neoplasm' EquivalentTo 'neoplasm' and ('has_disease_location' some ('bone' or ('part_of' some 'bone'))) 'bone neoplasm' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'bone neoplasm' SubClassOf 'bone disease' http://www.ebi.ac.uk/efo/EFO_0003821 migraine disorder 'migraine disorder' SubClassOf 'headache disorder' 'migraine disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017181 'migraine disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043218 'migraine disorder' SubClassOf 'has_disease_location' some 'brain' 'migraine disorder' SubClassOf 'brain disease' http://www.ebi.ac.uk/efo/EFO_0003826 salivary gland neoplasm 'salivary gland neoplasm' EquivalentTo 'neoplasm' and ('has_disease_location' some ('saliva-secreting gland' or ('part_of' some 'saliva-secreting gland'))) http://www.ebi.ac.uk/efo/EFO_0003827 pulmonary embolism 'pulmonary embolism' SubClassOf 'vascular disease' 'pulmonary embolism' SubClassOf 'has_disease_location' some 'pulmonary artery' 'pulmonary embolism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000473 http://www.ebi.ac.uk/efo/EFO_0003824 eye neoplasm 'eye neoplasm' SubClassOf 'eye disease' 'eye neoplasm' SubClassOf 'neoplasm' 'eye neoplasm' SubClassOf 'head and neck neoplasia' 'eye neoplasm' SubClassOf 'eye disease' 'eye neoplasm' EquivalentTo 'neoplasm' and ('has_disease_location' some 'eye') 'eye neoplasm' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021248 http://www.ebi.ac.uk/efo/EFO_1000769 steroid lipomatosis 'steroid lipomatosis' SubClassOf 'lipomatosis' 'steroid lipomatosis' SubClassOf 'lipomatosis' http://www.ebi.ac.uk/efo/EFO_0003825 serous adenocarcinoma 'serous adenocarcinoma' SubClassOf 'adenocarcinoma' 'serous adenocarcinoma' SubClassOf 'adenocarcinoma' http://purl.obolibrary.org/obo/CL_0000477 follicle cell 'follicle cell' SubClassOf 'part_of' some 'endocrine system' 'follicle cell' SubClassOf 'located_in' some 'female gonad' http://www.ebi.ac.uk/efo/EFO_1000767 skin sarcoidosis 'skin sarcoidosis' SubClassOf 'skin disease' 'skin sarcoidosis' SubClassOf 'skin disease' 'skin sarcoidosis' SubClassOf 'Sarcoidosis' http://www.ebi.ac.uk/efo/EFO_1000768 spongiotic dermatitis 'spongiotic dermatitis' SubClassOf 'pyoderma' 'spongiotic dermatitis' SubClassOf 'pyoderma' http://www.ebi.ac.uk/efo/EFO_0003828 spinal cord neoplasm 'spinal cord neoplasm' SubClassOf 'central nervous system disease' 'spinal cord neoplasm' SubClassOf 'neoplasm' 'spinal cord neoplasm' SubClassOf 'Central Nervous System Neoplasm' 'spinal cord neoplasm' EquivalentTo 'neoplasm' and ('has_disease_location' some ('spinal cord' or ('part_of' some 'spinal cord'))) 'spinal cord neoplasm' SubClassOf 'spinal cord disease' http://www.ebi.ac.uk/efo/EFO_1000765 seborrheic infantile dermatitis 'seborrheic infantile dermatitis' SubClassOf 'seborrheic dermatitis' 'seborrheic infantile dermatitis' SubClassOf 'seborrheic dermatitis' 'seborrheic infantile dermatitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044999 http://www.ebi.ac.uk/efo/EFO_0003829 alcohol dependence 'alcohol dependence' SubClassOf 'drug dependence' 'alcohol dependence' SubClassOf 'drug dependence' 'alcohol dependence' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002326 'alcohol dependence' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021698 http://www.ebi.ac.uk/efo/EFO_1000766 skin atrophy 'skin atrophy' SubClassOf 'skin disease' 'skin atrophy' SubClassOf 'skin disease' http://www.orpha.net/ORDO/Orphanet_289307 Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency 'Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency' SubClassOf 'Disorder of branched-chain amino acid metabolism' 'Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency' SubClassOf 'Disorder of branched-chain amino acid metabolism' http://www.orpha.net/ORDO/Orphanet_228384 5q14.3 microdeletion syndrome '5q14.3 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 5' '5q14.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 '5q14.3 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 5' '5q14.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015652 '5q14.3 microdeletion syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/GO_0051701 interaction with host 'interaction with host' SubClassOf 'part_of' some 'symbiosis, encompassing mutualism through parasitism' http://www.ebi.ac.uk/efo/EFO_1000774 vesiculobullous skin disease 'vesiculobullous skin disease' SubClassOf 'skin disease' 'vesiculobullous skin disease' SubClassOf 'skin disease' http://www.ebi.ac.uk/efo/EFO_1000775 vibratory urticaria 'vibratory urticaria' SubClassOf 'physical urticaria' 'vibratory urticaria' SubClassOf 'physical urticaria' http://www.ebi.ac.uk/efo/EFO_1000772 sweat gland disease 'sweat gland disease' SubClassOf 'skin disease' 'sweat gland disease' SubClassOf 'skin disease' http://www.ebi.ac.uk/efo/EFO_1000773 toxicodendron dermatitis 'toxicodendron dermatitis' SubClassOf 'allergic contact dermatitis' 'toxicodendron dermatitis' SubClassOf 'allergic contact dermatitis' http://www.ebi.ac.uk/efo/EFO_0003811 refractory anemia with excess blasts 'refractory anemia with excess blasts' SubClassOf 'myelodysplastic syndrome' 'refractory anemia with excess blasts' SubClassOf 'myelodysplastic syndrome' http://www.ebi.ac.uk/efo/EFO_1000770 stromal corneal pigmentation 'stromal corneal pigmentation' SubClassOf 'pigmentation disease' 'stromal corneal pigmentation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001308 'stromal corneal pigmentation' SubClassOf 'pigmentation disease' http://www.ebi.ac.uk/efo/EFO_0003812 refractory anemia with ringed sideroblasts 'refractory anemia with ringed sideroblasts' SubClassOf 'myelodysplastic syndrome' 'refractory anemia with ringed sideroblasts' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015194 'refractory anemia with ringed sideroblasts' SubClassOf 'myelodysplastic syndrome' http://www.ebi.ac.uk/efo/EFO_1000771 subcorneal pustular dermatosis 'subcorneal pustular dermatosis' SubClassOf 'bullous skin disease' 'subcorneal pustular dermatosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019546 'subcorneal pustular dermatosis' SubClassOf 'bullous skin disease' 'subcorneal pustular dermatosis' SubClassOf 'autoimmune bullous skin disease' http://www.ebi.ac.uk/efo/EFO_0003810 interleukin-22 (Homo sapiens) 'interleukin-22 (Homo sapiens)' SubClassOf 'derives_from' some 'Homo sapiens' http://www.ebi.ac.uk/efo/EFO_0003815 nucleic acid hybridization to array protocol 'nucleic acid hybridization to array protocol' SubClassOf 'is_executed_in' some 'nucleic acid hybridization' http://www.ebi.ac.uk/efo/EFO_0003816 normalization data transformation protocol 'normalization data transformation protocol' SubClassOf 'is_executed_in' some 'normalization data transformation' http://www.ebi.ac.uk/efo/EFO_0003813 nucleic acid labeling protocol 'nucleic acid labeling protocol' SubClassOf 'is_executed_in' some 'labelling' http://www.ebi.ac.uk/efo/EFO_0003819 dental caries 'dental caries' SubClassOf 'head and neck disorder' 'dental caries' SubClassOf 'has_disease_location' some 'tooth' 'dental caries' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002220 http://www.ebi.ac.uk/efo/EFO_1000778 vulvar inverted follicular keratosis 'vulvar inverted follicular keratosis' SubClassOf 'inverted follicular keratosis' 'vulvar inverted follicular keratosis' SubClassOf 'vulvar seborrheic keratosis' 'vulvar inverted follicular keratosis' SubClassOf 'inverted follicular keratosis' 'vulvar inverted follicular keratosis' SubClassOf 'vulvar seborrheic keratosis' http://www.ebi.ac.uk/efo/EFO_1000779 vulvar seborrheic keratosis 'vulvar seborrheic keratosis' SubClassOf 'seborrheic keratosis' 'vulvar seborrheic keratosis' SubClassOf 'Genetic skin tumor' 'vulvar seborrheic keratosis' SubClassOf 'skin carcinoma' 'vulvar seborrheic keratosis' SubClassOf 'vulvar carcinoma' 'vulvar seborrheic keratosis' SubClassOf 'seborrheic keratosis' 'vulvar seborrheic keratosis' SubClassOf 'Genetic gynecological tumor' 'vulvar seborrheic keratosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002195 http://www.ebi.ac.uk/efo/EFO_0003817 laryngeal neoplasm 'laryngeal neoplasm' SubClassOf 'respiratory system neoplasm' 'laryngeal neoplasm' SubClassOf 'laryngeal disease' 'laryngeal neoplasm' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020641 'laryngeal neoplasm' EquivalentTo 'neoplasm' and ('has_disease_location' some ('larynx' or ('part_of' some 'larynx'))) http://www.ebi.ac.uk/efo/EFO_1000776 viral exanthem 'viral exanthem' SubClassOf 'exanthem' 'viral exanthem' SubClassOf 'exanthem' http://www.ebi.ac.uk/efo/EFO_0003818 lung disease 'lung disease' SubClassOf 'respiratory system disease' 'lung disease' SubClassOf 'lower respiratory tract disease' 'lung disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000651 'lung disease' EquivalentTo 'has_disease_location' some ('lung' or ('part_of' some 'lung') or ('located_in' some 'lung')) http://www.ebi.ac.uk/efo/EFO_1000777 vulva fibroepithelial polyp 'vulva fibroepithelial polyp' SubClassOf http://purl.obolibrary.org/obo/MONDO_0060765 'vulva fibroepithelial polyp' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021396 http://www.orpha.net/ORDO/Orphanet_228374 Severe early-onset axonal neuropathy due to NEFL deficiency 'Severe early-onset axonal neuropathy due to NEFL deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019601 http://purl.obolibrary.org/obo/HP_0011015 Abnormality of blood glucose concentration 'Abnormality of blood glucose concentration' EquivalentTo 'has part' some ('concentration of' and ('inheres_in' some 'blood') and ('has component' some 'abnormal') and ('towards' some 'glucose')) http://purl.obolibrary.org/obo/GO_1990110 callus formation 'callus formation' SubClassOf 'part_of' some 'wound healing' http://www.ebi.ac.uk/efo/EFO_0003840 chronic progressive multiple sclerosis 'chronic progressive multiple sclerosis' SubClassOf 'multiple sclerosis' 'chronic progressive multiple sclerosis' SubClassOf 'has modifier' some 'chronic' 'chronic progressive multiple sclerosis' SubClassOf 'multiple sclerosis' http://www.ebi.ac.uk/efo/EFO_1000785 Sezary's disease 'Sezary's disease' SubClassOf 'Cutaneous T-cell lymphoma' 'Sezary's disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015817 'Sezary's disease' SubClassOf 'Cutaneous T-cell lymphoma' http://www.ebi.ac.uk/efo/EFO_0003841 thyroid neoplasm 'thyroid neoplasm' EquivalentTo 'neoplasm' and ('has_disease_location' some ('thyroid gland' or ('part_of' some 'thyroid gland'))) http://www.ebi.ac.uk/efo/EFO_1000786 osteoarthritis, hip 'osteoarthritis, hip' SubClassOf 'osteoarthritis' 'osteoarthritis, hip' SubClassOf ('part_of' some 'hip') or ('has_disease_location' some 'hip') 'osteoarthritis, hip' SubClassOf 'osteoarthritis' http://www.ebi.ac.uk/efo/EFO_0002510 serous cystadenofibroma 'serous cystadenofibroma' SubClassOf 'fibroma' 'serous cystadenofibroma' SubClassOf 'has_disease_location' some 'female gonad' 'serous cystadenofibroma' SubClassOf 'fibroma' http://www.ebi.ac.uk/efo/EFO_1000783 diabetic neuropathy 'diabetic neuropathy' SubClassOf 'peripheral neuropathy' 'diabetic neuropathy' SubClassOf 'peripheral neuropathy' 'diabetic neuropathy' SubClassOf http://purl.obolibrary.org/obo/RO_0004022 some 'diabetes mellitus' 'diabetic neuropathy' EquivalentTo 'peripheral neuropathy' and (http://purl.obolibrary.org/obo/RO_0004022 some 'diabetes mellitus') http://www.ebi.ac.uk/efo/EFO_1000784 microscopic polyangiitis 'microscopic polyangiitis' SubClassOf 'vasculitis' 'microscopic polyangiitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019724 'microscopic polyangiitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016177 'microscopic polyangiitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015492 'microscopic polyangiitis' SubClassOf 'Arteritis' 'microscopic polyangiitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043218 http://www.ebi.ac.uk/efo/EFO_0002512 obsolete_supranuclear palsy, progressive 'obsolete_supranuclear palsy, progressive' SubClassOf 'obsolete class' 'obsolete_supranuclear palsy, progressive' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003844 ureteral neoplasm 'ureteral neoplasm' EquivalentTo 'neoplasm' and ('has_disease_location' some ('ureter' or ('part_of' some 'ureter'))) http://www.ebi.ac.uk/efo/EFO_1000781 overactive bladder 'overactive bladder' SubClassOf 'bladder disease' 'overactive bladder' SubClassOf 'bladder disease' http://purl.obolibrary.org/obo/HP_0000359 Abnormality of the inner ear 'Abnormality of the inner ear' EquivalentTo 'has part' some ('quality' and ('has component' some 'abnormal') and ('inheres in part of' some 'internal ear')) http://www.ebi.ac.uk/efo/EFO_0002511 simple cystadenoma 'simple cystadenoma' SubClassOf 'ovarian neoplasm' 'simple cystadenoma' SubClassOf 'adenoma' 'simple cystadenoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002229 'simple cystadenoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000646 'simple cystadenoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002369 'simple cystadenoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0036976 'simple cystadenoma' SubClassOf 'has_disease_location' some ('female gonad' or ('part_of' some 'female gonad')) http://www.ebi.ac.uk/efo/EFO_0003845 kidney stone 'kidney stone' SubClassOf 'kidney disease' 'kidney stone' SubClassOf 'nephrolithiasis' http://www.ebi.ac.uk/efo/EFO_1000782 altitude sickness 'altitude sickness' SubClassOf 'disease' 'altitude sickness' SubClassOf 'disease has feature' some 'hypoxia' 'altitude sickness' SubClassOf 'cardiovascular disease' http://www.ebi.ac.uk/efo/EFO_0002514 obsolete_corneal stroma 'obsolete_corneal stroma' SubClassOf 'obsolete class' 'obsolete_corneal stroma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003842 obsolete_bone of lower extremity 'obsolete_bone of lower extremity' SubClassOf 'obsolete class' 'obsolete_bone of lower extremity' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002513 obsolete_alveolus 'obsolete_alveolus' SubClassOf 'obsolete class' 'obsolete_alveolus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000780 autoimmune pancreatitis type 1 'autoimmune pancreatitis type 1' SubClassOf 'chronic pancreatitis' 'autoimmune pancreatitis type 1' SubClassOf 'immune system disease' 'autoimmune pancreatitis type 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015175 'autoimmune pancreatitis type 1' SubClassOf 'chronic pancreatitis' 'autoimmune pancreatitis type 1' SubClassOf 'has_disease_location' some 'immune system' 'autoimmune pancreatitis type 1' SubClassOf 'has_disease_location' some 'pancreas' http://www.ebi.ac.uk/efo/EFO_0002516 obsolete_inferior ganglion of vagus nerve 'obsolete_inferior ganglion of vagus nerve' SubClassOf 'obsolete class' 'obsolete_inferior ganglion of vagus nerve' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003848 obsolete_cardiovascular abnormality 'obsolete_cardiovascular abnormality' SubClassOf 'obsolete class' 'obsolete_cardiovascular abnormality' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/HP_0000366 abnormality of the nose 'abnormality of the nose' EquivalentTo 'has part' some ('quality' and ('has component' some 'abnormal') and ('inheres in part of' some 'olfactory apparatus')) http://www.ebi.ac.uk/efo/EFO_0002515 obsolete_ductus arteriosus 'obsolete_ductus arteriosus' SubClassOf 'obsolete class' 'obsolete_ductus arteriosus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003849 palatal neoplasm 'palatal neoplasm' SubClassOf 'neoplasm' 'palatal neoplasm' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044987 'palatal neoplasm' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021245 http://www.ebi.ac.uk/efo/EFO_0003846 urethral neoplasm 'urethral neoplasm' EquivalentTo 'neoplasm' and ('has_disease_location' some 'urethra') http://www.ebi.ac.uk/efo/EFO_0002517 pancreatic ductal adenocarcinoma 'pancreatic ductal adenocarcinoma' SubClassOf 'pancreatic neoplasm' 'pancreatic ductal adenocarcinoma' SubClassOf 'pancreatic adenocarcinoma' 'pancreatic ductal adenocarcinoma' SubClassOf 'has_disease_location' some 'pancreas' http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation 'mental retardation' SubClassOf 'inheres_in' some 'brain' http://purl.obolibrary.org/obo/CL_0000499 stromal cell 'stromal cell' SubClassOf 'located_in' some 'connective tissue' http://www.ebi.ac.uk/efo/EFO_1000789 osteoarthritis, hand 'osteoarthritis, hand' SubClassOf 'osteoarthritis' 'osteoarthritis, hand' SubClassOf 'osteoarthritis' http://www.ebi.ac.uk/efo/EFO_1000787 osteoarthritis, spine 'osteoarthritis, spine' SubClassOf 'osteoarthritis' 'osteoarthritis, spine' SubClassOf ('part_of' some 'neck') or ('has_disease_location' some 'neck') 'osteoarthritis, spine' SubClassOf ('part_of' some 'vertebra') or ('has_disease_location' some 'vertebra') 'osteoarthritis, spine' SubClassOf 'osteoarthritis' http://purl.obolibrary.org/obo/HP_0000364 Hearing abnormality 'Hearing abnormality' EquivalentTo 'has part' some ('quality' and ('has component' some 'abnormal') and ('inheres in part of' some 'sensory perception of sound')) http://www.ebi.ac.uk/efo/EFO_1000788 osteoarthritis, toe 'osteoarthritis, toe' SubClassOf 'osteoarthritis' 'osteoarthritis, toe' SubClassOf ('part_of' some 'foot') or ('has_disease_location' some 'foot') 'osteoarthritis, toe' SubClassOf 'osteoarthritis' http://www.orpha.net/ORDO/Orphanet_228399 8q12 microduplication syndrome '8q12 microduplication syndrome' SubClassOf 'Partial duplication of the long arm of chromosome 8' '8q12 microduplication syndrome' SubClassOf 'Partial duplication of the long arm of chromosome 8' http://www.ebi.ac.uk/efo/EFO_1000796 adrenal cortex carcinoma 'adrenal cortex carcinoma' SubClassOf 'carcinoma' 'adrenal cortex carcinoma' SubClassOf 'endocrine neoplasm' 'adrenal cortex carcinoma' SubClassOf 'carcinoma' 'adrenal cortex carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002095 'adrenal cortex carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002814 'adrenal cortex carcinoma' SubClassOf 'has_disease_location' some ('adrenal cortex' or ('part_of' some 'adrenal cortex')) 'adrenal cortex carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015077 'adrenal cortex carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019748 'adrenal cortex carcinoma' SubClassOf 'renal cell carcinoma' 'adrenal cortex carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021312 http://www.ebi.ac.uk/efo/EFO_0003830 prostatitis 'prostatitis' SubClassOf 'prostate disease' 'prostatitis' SubClassOf 'prostate disease' 'prostatitis' SubClassOf 'has_participant' some 'Bacteria' 'prostatitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021166 'prostatitis' SubClassOf 'has_disease_location' some 'prostate gland' http://www.ebi.ac.uk/efo/EFO_1000797 adrenal gland hyperfunction 'adrenal gland hyperfunction' SubClassOf 'endocrine system disease' 'adrenal gland hyperfunction' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002816 'adrenal gland hyperfunction' SubClassOf 'endocrine system disease' 'adrenal gland hyperfunction' SubClassOf 'has_disease_location' some ('adrenal gland' or ('part_of' some 'adrenal gland')) http://www.ebi.ac.uk/efo/EFO_1000794 acute kidney tubular necrosis 'acute kidney tubular necrosis' SubClassOf 'kidney disease' 'acute kidney tubular necrosis' SubClassOf 'has_disease_location' some ('kidney' or ('part_of' some 'kidney')) 'acute kidney tubular necrosis' SubClassOf 'kidney disease' 'acute kidney tubular necrosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002492 http://www.ebi.ac.uk/efo/EFO_1000795 acute retinal necrosis syndrome 'acute retinal necrosis syndrome' SubClassOf 'eye disease' 'acute retinal necrosis syndrome' SubClassOf 'eye disease' 'acute retinal necrosis syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002708 http://purl.obolibrary.org/obo/HP_0000369 Low-set ears 'Low-set ears' SubClassOf 'Abnormality of the outer ear' 'Low-set ears' SubClassOf 'Abnormality of the outer ear' http://www.ebi.ac.uk/efo/EFO_0002501 anaplastic oligodendroglioma 'anaplastic oligodendroglioma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020633 'anaplastic oligodendroglioma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018744 'anaplastic oligodendroglioma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021640 http://www.ebi.ac.uk/efo/EFO_0003833 brain neoplasm 'brain neoplasm' SubClassOf 'neoplasm' 'brain neoplasm' SubClassOf 'central nervous system disease' 'brain neoplasm' EquivalentTo 'neoplasm' and ('has_disease_location' some ('brain' or ('part_of' some 'brain'))) 'brain neoplasm' SubClassOf 'brain disease' 'brain neoplasm' SubClassOf 'Central Nervous System Neoplasm' http://www.ebi.ac.uk/efo/EFO_1000792 Acinetobacter infectious disease 'Acinetobacter infectious disease' SubClassOf 'bacterial disease' 'Acinetobacter infectious disease' SubClassOf 'bacterial disease' 'Acinetobacter infectious disease' SubClassOf 'opportunistic Moraxellaceae infectious disease' http://www.ebi.ac.uk/efo/EFO_0002500 anaplastic oligoastrocytoma 'anaplastic oligoastrocytoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021640 'anaplastic oligoastrocytoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020633 http://www.ebi.ac.uk/efo/EFO_0003834 cutaneous lupus erythematosus 'cutaneous lupus erythematosus' SubClassOf 'has_disease_location' some 'zone of skin' 'cutaneous lupus erythematosus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004670 http://www.ebi.ac.uk/efo/EFO_1000793 Actinobacillus infectious disease 'Actinobacillus infectious disease' SubClassOf 'bacterial disease' 'Actinobacillus infectious disease' SubClassOf 'bacterial disease' http://www.ebi.ac.uk/efo/EFO_0002503 cardiac hypertrophy 'cardiac hypertrophy' SubClassOf 'inheres_in' some 'heart' http://www.ebi.ac.uk/efo/EFO_0003831 obsolete_chromosome disorder 'obsolete_chromosome disorder' SubClassOf 'obsolete class' 'obsolete_chromosome disorder' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000790 acalculous cholecystitis 'acalculous cholecystitis' SubClassOf 'cystitis' 'acalculous cholecystitis' SubClassOf 'cystitis' 'acalculous cholecystitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004789 'acalculous cholecystitis' SubClassOf 'gallbladder disease' 'acalculous cholecystitis' SubClassOf 'participates_in' some 'inflammatory response' http://www.ebi.ac.uk/efo/EFO_0002502 benign insulitis 'benign insulitis' SubClassOf 'immune system disease' 'benign insulitis' SubClassOf 'endocrine system disease' 'benign insulitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001933 'benign insulitis' SubClassOf 'immune system disease' 'benign insulitis' SubClassOf 'has_disease_location' some 'islet of Langerhans' http://www.ebi.ac.uk/efo/EFO_0003832 gallbladder disease 'gallbladder disease' SubClassOf 'digestive system disease' 'gallbladder disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044965 'gallbladder disease' EquivalentTo 'has_disease_location' some ('gallbladder' or ('part_of' some 'gallbladder')) 'gallbladder disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002515 http://www.ebi.ac.uk/efo/EFO_1000791 acidophil adenoma 'acidophil adenoma' SubClassOf 'Pituitary Gland Adenoma' 'acidophil adenoma' SubClassOf 'Pituitary Gland Adenoma' http://www.ebi.ac.uk/efo/EFO_0002505 obsolete_multiple system atrophy 'obsolete_multiple system atrophy' SubClassOf 'obsolete class' 'obsolete_multiple system atrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/CLO_0032713 GM13649 'GM13649' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM13649' SubClassOf 'cultured cell' 'GM13649' SubClassOf 'has_quality' some 'female' http://www.ebi.ac.uk/efo/EFO_0002504 serous cystadenoma 'serous cystadenoma' SubClassOf 'adenoma' 'serous cystadenoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002369 http://www.ebi.ac.uk/efo/EFO_0003838 obsolete_inflammation 'obsolete_inflammation' SubClassOf 'obsolete class' 'obsolete_inflammation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002507 ovarian adenoma benign 'ovarian adenoma benign' SubClassOf 'adenoma' 'ovarian adenoma benign' SubClassOf 'has_disease_location' some 'female gonad' 'ovarian adenoma benign' SubClassOf 'adenoma' http://www.ebi.ac.uk/efo/EFO_0003835 anal neoplasm 'anal neoplasm' EquivalentTo 'neoplasm' and ('has_disease_location' some 'anal region') http://www.ebi.ac.uk/efo/EFO_0002506 osteoarthritis 'osteoarthritis' SubClassOf 'arthritis' 'osteoarthritis' SubClassOf 'has_disease_location' some 'cartilage' 'osteoarthritis' SubClassOf 'arthritis' http://www.ebi.ac.uk/efo/EFO_0002509 progressive external ophthalmoplegia 'progressive external ophthalmoplegia' SubClassOf 'sensory system disease' 'progressive external ophthalmoplegia' SubClassOf 'Mitochondrial myopathy' 'progressive external ophthalmoplegia' SubClassOf 'sensory system disease' http://www.ebi.ac.uk/efo/EFO_0002508 Parkinson's disease 'Parkinson's disease' SubClassOf 'basal ganglia disease' 'Parkinson's disease' SubClassOf 'neurodegenerative disease' 'Parkinson's disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021095 'Parkinson's disease' SubClassOf 'realized_in' some ('disease course' and ('has part' some 'neurodegeneration')) 'Parkinson's disease' SubClassOf 'synucleinopathy' http://www.ebi.ac.uk/efo/EFO_0003839 retinopathy 'retinopathy' SubClassOf 'eye disease' 'retinopathy' SubClassOf 'eye disease' 'retinopathy' EquivalentTo 'has_disease_location' some 'retina' http://www.ebi.ac.uk/efo/EFO_1000798 adrenal rest tumor 'adrenal rest tumor' SubClassOf 'endocrine neoplasm' 'adrenal rest tumor' SubClassOf 'has_disease_location' some ('adrenal gland' or ('part_of' some 'adrenal gland')) 'adrenal rest tumor' SubClassOf 'endocrine neoplasm' http://www.ebi.ac.uk/efo/EFO_1000799 afferent loop syndrome 'afferent loop syndrome' SubClassOf 'digestive system disease' 'afferent loop syndrome' SubClassOf 'digestive system disease' 'afferent loop syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004566 http://www.orpha.net/ORDO/Orphanet_228390 Frontonasal dysplasia with alopecia and genital anomaly 'Frontonasal dysplasia with alopecia and genital anomaly' SubClassOf 'Frontonasal dysplasia' 'Frontonasal dysplasia with alopecia and genital anomaly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021034 'Frontonasal dysplasia with alopecia and genital anomaly' SubClassOf 'Frontonasal dysplasia' http://www.orpha.net/ORDO/Orphanet_228396 Ptosis - upper ocular movement limitation - absence of lacrimal punctum 'Ptosis - upper ocular movement limitation - absence of lacrimal punctum' SubClassOf 'Excretory apparatus of the lacrimal system anomaly' 'Ptosis - upper ocular movement limitation - absence of lacrimal punctum' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020169 'Ptosis - upper ocular movement limitation - absence of lacrimal punctum' SubClassOf 'Excretory apparatus of the lacrimal system anomaly' http://purl.obolibrary.org/obo/HP_0011031 abnormality of iron homeostasis 'abnormality of iron homeostasis' EquivalentTo 'has part' some ('quality' and ('inheres_in' some 'iron ion homeostasis') and ('has component' some 'abnormal')) http://www.ebi.ac.uk/efo/EFO_0003862 obsolete_dementia 'obsolete_dementia' SubClassOf 'obsolete class' 'obsolete_dementia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003863 urogenital neoplasm 'urogenital neoplasm' SubClassOf 'has_disease_location' some ('genitourinary system' or ('part_of' some 'genitourinary system')) 'urogenital neoplasm' SubClassOf 'disease of genitourinary system' 'urogenital neoplasm' EquivalentTo 'neoplasm' and ('has_disease_location' some ('genitourinary system' or ('part_of' some 'genitourinary system'))) http://www.ebi.ac.uk/efo/EFO_0003860 pancreatic neoplasm 'pancreatic neoplasm' SubClassOf 'pancreas disease' 'pancreatic neoplasm' EquivalentTo 'neoplasm' and ('has_disease_location' some ('pancreas' or ('part_of' some 'pancreas'))) 'pancreatic neoplasm' SubClassOf 'digestive system neoplasm' http://www.ebi.ac.uk/efo/EFO_0003861 pancreactic component 'pancreactic component' EquivalentTo 'part_of' some 'pancreas' http://www.ebi.ac.uk/efo/EFO_0001200 MCF 10A 'MCF 10A' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('mammary gland' and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_0001203 MCF-7 'MCF-7' SubClassOf 'bearer_of' some 'breast adenocarcinoma' 'MCF-7' SubClassOf 'is_input_of' some 'ENCODE functional genome mapping' 'MCF-7' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('mammary gland' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003866 paranasal sinus neoplasm 'paranasal sinus neoplasm' SubClassOf 'head and neck neoplasia' 'paranasal sinus neoplasm' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021248 'paranasal sinus neoplasm' SubClassOf 'paranasal sinus disease' 'paranasal sinus neoplasm' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024653 'paranasal sinus neoplasm' SubClassOf 'has_disease_location' some 'olfactory apparatus' http://www.ebi.ac.uk/efo/EFO_0003867 rhabdomyolysis 'rhabdomyolysis' SubClassOf 'muscular disease' 'rhabdomyolysis' SubClassOf 'muscular disease' 'rhabdomyolysis' SubClassOf 'has_disease_location' some 'skeletal muscle organ' http://www.ebi.ac.uk/efo/EFO_0001202 MCF12A 'MCF12A' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('mammary gland' and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_0001205 MDAMB134VI 'MDAMB134VI' SubClassOf 'bearer_of' some 'breast carcinoma' 'MDAMB134VI' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('mammary gland' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003864 obsolete_genitourinary system 'obsolete_genitourinary system' SubClassOf 'obsolete class' 'obsolete_genitourinary system' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003865 kidney neoplasm 'kidney neoplasm' SubClassOf 'urogenital neoplasm' 'kidney neoplasm' SubClassOf 'kidney disease' 'kidney neoplasm' EquivalentTo 'neoplasm' and ('has_disease_location' some ('kidney' or ('part_of' some 'kidney'))) 'kidney neoplasm' SubClassOf 'kidney disease' 'kidney neoplasm' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021066 http://www.ebi.ac.uk/efo/EFO_0001207 obsolete_MDAMB-157 'obsolete_MDAMB-157' SubClassOf 'obsolete class' 'obsolete_MDAMB-157' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001206 MDAMB157 'MDAMB157' SubClassOf 'bearer_of' some 'breast carcinoma' 'MDAMB157' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('mammary gland' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003868 mouth neoplasm 'mouth neoplasm' EquivalentTo 'neoplasm' and ('has_disease_location' some 'mouth') http://www.ebi.ac.uk/efo/EFO_0001209 MDAMB231 'MDAMB231' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('mammary gland' and ('part_of' some 'Homo sapiens')))) 'MDAMB231' SubClassOf 'bearer_of' some 'breast carcinoma' http://www.ebi.ac.uk/efo/EFO_0003869 breast neoplasm 'breast neoplasm' SubClassOf 'neoplasm' 'breast neoplasm' SubClassOf 'breast disease' 'breast neoplasm' EquivalentTo 'neoplasm' and ('has_disease_location' some ('mammary gland' or ('part_of' some 'mammary gland'))) 'breast neoplasm' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021350 http://www.ebi.ac.uk/efo/EFO_0001208 MDAMB175VII 'MDAMB175VII' SubClassOf 'bearer_of' some 'breast carcinoma' 'MDAMB175VII' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('mammary gland' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003851 meningeal neoplasm 'meningeal neoplasm' EquivalentTo 'neoplasm' and ('has_disease_location' some 'meninx') http://www.ebi.ac.uk/efo/EFO_0003852 developmental disability 'developmental disability' SubClassOf 'nervous system disease' 'developmental disability' SubClassOf 'nervous system disease' http://www.ebi.ac.uk/efo/EFO_0002521 obsolete_cerebral hemisphere 'obsolete_cerebral hemisphere' SubClassOf 'obsolete class' 'obsolete_cerebral hemisphere' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003850 adrenal gland neoplasm 'adrenal gland neoplasm' SubClassOf 'neoplasm' 'adrenal gland neoplasm' EquivalentTo 'neoplasm' and ('has_disease_location' some ('adrenal gland' or ('part_of' some 'adrenal gland'))) 'adrenal gland neoplasm' SubClassOf 'adrenal gland disease' 'adrenal gland neoplasm' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002082 http://www.ebi.ac.uk/efo/EFO_0002523 obsolete_preoptic area 'obsolete_preoptic area' SubClassOf 'obsolete class' 'obsolete_preoptic area' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003855 intestinal polyp 'intestinal polyp' SubClassOf 'digestive system disease' 'intestinal polyp' SubClassOf 'polyp' 'intestinal polyp' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021118 'intestinal polyp' SubClassOf 'polyp' 'intestinal polyp' SubClassOf 'has_disease_location' some 'intestine' http://www.ebi.ac.uk/efo/EFO_0003856 dissection 'dissection' SubClassOf 'collecting specimen from organism' http://www.ebi.ac.uk/efo/EFO_0003853 respiratory system neoplasm 'respiratory system neoplasm' EquivalentTo 'neoplasm' and ('has_disease_location' some 'respiratory system') http://www.ebi.ac.uk/efo/EFO_0002525 obsolete_thoracic aorta 'obsolete_thoracic aorta' SubClassOf 'obsolete class' 'obsolete_thoracic aorta' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002524 obsolete_abdominal aorta 'obsolete_abdominal aorta' SubClassOf 'obsolete class' 'obsolete_abdominal aorta' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003854 postmenopausal osteoporosis 'postmenopausal osteoporosis' SubClassOf 'osteoporosis' 'postmenopausal osteoporosis' SubClassOf 'osteoporosis' http://www.ebi.ac.uk/efo/EFO_0003859 uterine neoplasm 'uterine neoplasm' EquivalentTo 'neoplasm' and ('has_disease_location' some 'uterus') http://www.ebi.ac.uk/efo/EFO_0002527 obsolete_descending thoracic aorta 'obsolete_descending thoracic aorta' SubClassOf 'obsolete class' 'obsolete_descending thoracic aorta' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002529 INS-1 'INS-1' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Rattus norvegicus')))) 'INS-1' SubClassOf 'bearer_of' some 'insulinoma' http://www.ebi.ac.uk/efo/EFO_0003857 arthrogryposis 'arthrogryposis' SubClassOf 'movement disorder' 'arthrogryposis' SubClassOf 'Rare genetic movement disorder' 'arthrogryposis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 'arthrogryposis' SubClassOf 'Rare genetic tremor disorder' 'arthrogryposis' SubClassOf 'has_disease_location' some 'skeletal joint' http://www.ebi.ac.uk/efo/EFO_0003858 skeleton structure 'skeleton structure' EquivalentTo 'part_of' some 'skeletal system' http://www.orpha.net/ORDO/Orphanet_93160 Hypocalcemic vitamin D-resistant rickets 'Hypocalcemic vitamin D-resistant rickets' SubClassOf 'Hypocalcemic rickets' 'Hypocalcemic vitamin D-resistant rickets' SubClassOf 'Hypocalcemic rickets' 'Hypocalcemic vitamin D-resistant rickets' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024299 http://www.orpha.net/ORDO/Orphanet_745 Hereditary thrombophilia due to congenital protein C deficiency 'Hereditary thrombophilia due to congenital protein C deficiency' SubClassOf 'Rare hereditary thrombophilia' 'Hereditary thrombophilia due to congenital protein C deficiency' SubClassOf 'Inborn errors of metabolism' 'Hereditary thrombophilia due to congenital protein C deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044976 'Hereditary thrombophilia due to congenital protein C deficiency' SubClassOf 'Rare hereditary thrombophilia' 'Hereditary thrombophilia due to congenital protein C deficiency' SubClassOf 'thrombophilia' http://www.orpha.net/ORDO/Orphanet_206973 Congenital myotonia 'Congenital myotonia' SubClassOf 'Myotonic syndrome' 'Congenital myotonia' SubClassOf 'Myotonic syndrome' http://www.orpha.net/ORDO/Orphanet_744 Proteus syndrome 'Proteus syndrome' SubClassOf 'Genetic vascular anomaly' 'Proteus syndrome' SubClassOf 'Syndrome or malformation associated with head and neck malformations' 'Proteus syndrome' SubClassOf 'Neurocutaneous syndrome with epilepsy' 'Proteus syndrome' SubClassOf 'Overgrowth syndrome' 'Proteus syndrome' SubClassOf 'PTEN hamartoma tumor syndrome' 'Proteus syndrome' SubClassOf 'Genetic vascular anomaly' 'Proteus syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043218 'Proteus syndrome' SubClassOf 'Syndrome or malformation associated with head and neck malformations' 'Proteus syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 'Proteus syndrome' SubClassOf 'Neurocutaneous syndrome with epilepsy' 'Proteus syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016235 'Proteus syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Proteus syndrome' SubClassOf 'Overgrowth syndrome' 'Proteus syndrome' SubClassOf 'PTEN hamartoma tumor syndrome' http://www.orpha.net/ORDO/Orphanet_743 Hereditary thrombophilia due to congenital protein S deficiency 'Hereditary thrombophilia due to congenital protein S deficiency' SubClassOf 'Rare hereditary thrombophilia' 'Hereditary thrombophilia due to congenital protein S deficiency' SubClassOf 'Rare hereditary thrombophilia' 'Hereditary thrombophilia due to congenital protein S deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002304 http://www.orpha.net/ORDO/Orphanet_742 Prolidase deficiency 'Prolidase deficiency' SubClassOf 'Syndromic lymphedema' 'Prolidase deficiency' SubClassOf 'Disorder of peptide metabolism' 'Prolidase deficiency' SubClassOf 'Metabolic disease with skin involvement' 'Prolidase deficiency' SubClassOf 'Neurometabolic disease' 'Prolidase deficiency' SubClassOf 'Syndromic lymphedema' 'Prolidase deficiency' SubClassOf 'Milroy disease' 'Prolidase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Prolidase deficiency' SubClassOf 'Disorder of peptide metabolism' 'Prolidase deficiency' SubClassOf 'Metabolic disease with skin involvement' http://www.orpha.net/ORDO/Orphanet_206970 Myotonic syndrome 'Myotonic syndrome' SubClassOf 'Genetic skeletal muscle disease' 'Myotonic syndrome' SubClassOf 'Genetic skeletal muscle disease' 'Myotonic syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 http://www.ebi.ac.uk/efo/EFO_0003760 central nervous system cyst 'central nervous system cyst' SubClassOf 'central nervous system disease' 'central nervous system cyst' SubClassOf 'has_disease_location' some 'brain' 'central nervous system cyst' SubClassOf 'brain disease' http://www.orpha.net/ORDO/Orphanet_740 Hutchinson-Gilford progeria syndrome 'Hutchinson-Gilford progeria syndrome' SubClassOf 'Primary osteolysis' 'Hutchinson-Gilford progeria syndrome' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Hutchinson-Gilford progeria syndrome' SubClassOf 'Premature aging' 'Hutchinson-Gilford progeria syndrome' SubClassOf 'Primary osteolysis' 'Hutchinson-Gilford progeria syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 'Hutchinson-Gilford progeria syndrome' SubClassOf 'autosomal recessive disease' 'Hutchinson-Gilford progeria syndrome' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Hutchinson-Gilford progeria syndrome' SubClassOf 'Rare genetic neurological disorder' 'Hutchinson-Gilford progeria syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021106 'Hutchinson-Gilford progeria syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 'Hutchinson-Gilford progeria syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015333 'Hutchinson-Gilford progeria syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Hutchinson-Gilford progeria syndrome' SubClassOf 'Premature aging' http://www.ebi.ac.uk/efo/EFO_0003763 cerebrovascular disorder 'cerebrovascular disorder' SubClassOf 'vascular disease' 'cerebrovascular disorder' EquivalentTo 'has_disease_location' some 'brain blood vessel' 'cerebrovascular disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043218 'cerebrovascular disorder' SubClassOf 'brain disease' 'cerebrovascular disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020676 http://www.ebi.ac.uk/efo/EFO_0002431 tumour of cranial and spinal nerves 'tumour of cranial and spinal nerves' EquivalentTo 'cancer' and ('has_disease_location' some ('peripheral nervous system' or ('part_of' some 'peripheral nervous system'))) http://www.ebi.ac.uk/efo/EFO_0001100 CAMA1 'CAMA1' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('mammary gland' and ('part_of' some 'Homo sapiens')))) 'CAMA1' SubClassOf 'bearer_of' some 'breast carcinoma' http://www.ebi.ac.uk/efo/EFO_0002430 primary myelofibrosis 'primary myelofibrosis' SubClassOf 'skeletal system disease' 'primary myelofibrosis' SubClassOf 'chronic myeloproliferative disorder' 'primary myelofibrosis' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021141 'primary myelofibrosis' EquivalentTo 'fibrosis' and ('has_disease_location' some 'bone marrow') 'primary myelofibrosis' SubClassOf 'chronic myeloproliferative disorder' 'primary myelofibrosis' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'primary myelofibrosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002280 http://www.ebi.ac.uk/efo/EFO_0003764 transient ischemic attack 'transient ischemic attack' SubClassOf 'cerebrovascular disorder' 'transient ischemic attack' SubClassOf http://purl.obolibrary.org/obo/MONDO_0005299 http://www.ebi.ac.uk/efo/EFO_0001102 CFT-2 'CFT-2' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('trachea' and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_0002433 cumulus-oocyte complex 'cumulus-oocyte complex' SubClassOf 'located_in' some 'reproductive system' http://www.ebi.ac.uk/efo/EFO_0003761 unipolar depression 'unipolar depression' SubClassOf 'mood disorder' 'unipolar depression' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002050 http://www.ebi.ac.uk/efo/EFO_0001101 CC531 'CC531' SubClassOf 'cancer cell line' 'CC531' SubClassOf 'colorectal cancer cell line' 'CC531' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('colon' and ('part_of' some 'organism')))) 'CC531' SubClassOf 'bearer_of' some 'colorectal adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0003767 inflammatory bowel disease 'inflammatory bowel disease' SubClassOf 'digestive system disease' 'inflammatory bowel disease' SubClassOf 'intestinal disease' 'inflammatory bowel disease' SubClassOf 'has_disease_location' some 'immune system' http://www.ebi.ac.uk/efo/EFO_0001104 obsolete_GLI56 'obsolete_GLI56' SubClassOf 'obsolete class' 'obsolete_GLI56' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001103 CSBwt-rescued fibroblasts 'CSBwt-rescued fibroblasts' SubClassOf 'derives_from' some ('fibroblast' and ('part_of' some ('organism part' and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_0003768 nicotine dependence 'nicotine dependence' SubClassOf 'Rare genetic neurological disorder' 'nicotine dependence' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020573 'nicotine dependence' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'nicotine dependence' http://www.ebi.ac.uk/efo/EFO_0001106 obsolete_GLI72 'obsolete_GLI72' SubClassOf 'obsolete class' 'obsolete_GLI72' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001105 obsolete_GLI60 'obsolete_GLI60' SubClassOf 'obsolete class' 'obsolete_GLI60' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003766 pain in abdomen 'abdominal pain' EquivalentTo 'pain in abdomen' http://www.ebi.ac.uk/efo/EFO_0001108 GM06993 'GM06993' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('organism part' and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_0002439 mesophyll cell 'mesophyll cell' SubClassOf 'located_in' some 'leaf' http://www.ebi.ac.uk/efo/EFO_0001107 GM06985 'GM06985' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('organism part' and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_0003769 endocrine neoplasm 'endocrine neoplasm' EquivalentTo 'neoplasm' and ('has_disease_location' some ('endocrine system' or ('part_of' some 'endocrine system'))) http://www.ebi.ac.uk/efo/EFO_0001109 GM06994 'GM06994' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('organism part' and ('part_of' some 'organism')))) http://www.orpha.net/ORDO/Orphanet_217635 Familial restrictive cardiomyopathy 'Familial restrictive cardiomyopathy' SubClassOf 'cardiomyopathy' 'Familial restrictive cardiomyopathy' EquivalentTo 'restrictive cardiomyopathy' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) 'Familial restrictive cardiomyopathy' SubClassOf 'has_disease_location' some 'myocardium' 'Familial restrictive cardiomyopathy' SubClassOf 'familial cardiomyopathy' 'Familial restrictive cardiomyopathy' SubClassOf 'restrictive cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_739 Prader-Willi syndrome 'Prader-Willi syndrome' SubClassOf 'Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism' 'Prader-Willi syndrome' SubClassOf 'Rare disorder with hypogonadotropic hypogonadism' 'Prader-Willi syndrome' SubClassOf 'Syndromic obesity' 'Prader-Willi syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020016 'Prader-Willi syndrome' SubClassOf 'Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism' 'Prader-Willi syndrome' SubClassOf 'Chromosomal anomaly' 'Prader-Willi syndrome' SubClassOf 'Rare disorder with hypogonadotropic hypogonadism' 'Prader-Willi syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100038 'Prader-Willi syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007 'Prader-Willi syndrome' SubClassOf 'Syndromic obesity' http://www.orpha.net/ORDO/Orphanet_738 Porphyria 'Porphyria' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 'Porphyria' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019304 'Porphyria' SubClassOf http://purl.obolibrary.org/obo/MONDO_0037821 http://www.orpha.net/ORDO/Orphanet_737 Porokeratosis plantaris palmaris et disseminata 'Porokeratosis plantaris palmaris et disseminata' SubClassOf 'Isolated punctate palmoplantar keratoderma' 'Porokeratosis plantaris palmaris et disseminata' SubClassOf 'Isolated punctate palmoplantar keratoderma' 'Porokeratosis plantaris palmaris et disseminata' SubClassOf 'porokeratosis' http://www.orpha.net/ORDO/Orphanet_217638 Lysosomal disease with restrictive cardiomyopathy 'Lysosomal disease with restrictive cardiomyopathy' SubClassOf 'Familial restrictive cardiomyopathy' 'Lysosomal disease with restrictive cardiomyopathy' SubClassOf 'Lysosomal disease' 'Lysosomal disease with restrictive cardiomyopathy' SubClassOf 'Familial restrictive cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_735 Porokeratosis of Mibelli 'Porokeratosis of Mibelli' SubClassOf 'porokeratosis' http://www.orpha.net/ORDO/Orphanet_756 Pseudohypoaldosteronism type 1 'Pseudohypoaldosteronism type 1' SubClassOf 'Genetic renal tubular disease' 'Pseudohypoaldosteronism type 1' SubClassOf 'Genetic renal tubular disease' 'Pseudohypoaldosteronism type 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018638 http://www.orpha.net/ORDO/Orphanet_755 Leydig cell hypoplasia 'Leydig cell hypoplasia' SubClassOf 'Rare male infertility due to testicular endocrine disorder' 'Leydig cell hypoplasia' SubClassOf '46,XY disorder of sex development due to impaired androgen production' 'Leydig cell hypoplasia' SubClassOf 'Rare male infertility due to testicular endocrine disorder' 'Leydig cell hypoplasia' SubClassOf '46,XY disorder of sex development due to impaired androgen production' http://www.orpha.net/ORDO/Orphanet_754 Androgen insensitivity syndrome 'Androgen insensitivity syndrome' SubClassOf '46,XY disorder of sex development of gynecological interest' 'Androgen insensitivity syndrome' SubClassOf 'Rare male infertility due to testicular endocrine disorder' 'Androgen insensitivity syndrome' SubClassOf 'Genetic 46,XY disorder of sex development of endocrine origin' 'Androgen insensitivity syndrome' SubClassOf '46,XY disorder of sex development of gynecological interest' 'Androgen insensitivity syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044977 'Androgen insensitivity syndrome' SubClassOf 'female infertility' 'Androgen insensitivity syndrome' SubClassOf 'Rare male infertility due to testicular endocrine disorder' 'Androgen insensitivity syndrome' SubClassOf 'Genetic 46,XY disorder of sex development of endocrine origin' http://www.orpha.net/ORDO/Orphanet_753 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency '46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency' SubClassOf '46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue' '46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency' SubClassOf 'Rare male infertility due to testicular endocrine disorder' '46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency' SubClassOf 'Developmental anomaly of metabolic origin' '46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency' SubClassOf 'female infertility' '46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency' SubClassOf 'Disorder of lipid metabolism' '46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency' SubClassOf '46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue' '46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency' SubClassOf 'Rare male infertility due to testicular endocrine disorder' http://www.orpha.net/ORDO/Orphanet_752 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency '46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency' SubClassOf 'Rare female infertility due to adrenal disorder of genetic origin' '46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency' SubClassOf '46,XY disorder of sex development due to testicular steroidogenesis defect' '46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency' SubClassOf 'Rare male infertility due to testicular endocrine disorder' '46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044976 '46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency' SubClassOf 'Disorder of lipid metabolism' '46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency' SubClassOf 'Rare female infertility due to adrenal disorder of genetic origin' '46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency' SubClassOf '46,XY disorder of sex development due to testicular steroidogenesis defect' '46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency' SubClassOf 'Rare male infertility due to adrenal disorder of genetic origin' '46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency' SubClassOf 'Rare male infertility due to testicular endocrine disorder' http://www.orpha.net/ORDO/Orphanet_750 Pseudoachondroplasia 'Pseudoachondroplasia' SubClassOf 'Multiple epiphyseal dysplasia and pseudoachondroplasia' 'Pseudoachondroplasia' SubClassOf 'Multiple epiphyseal dysplasia and pseudoachondroplasia' 'Pseudoachondroplasia' SubClassOf 'osteochondrodysplasia' http://www.ebi.ac.uk/efo/EFO_0003752 DNase-Hypersensitivity seq 'DNase-Hypersensitivity seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'DNase-Hypersensitivity seq' SubClassOf 'has_participant' some 'sequencer' http://www.ebi.ac.uk/efo/EFO_0003753 Bisulfite-seq 'Bisulfite-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'Bisulfite-seq' SubClassOf 'has_participant' some 'sequencer' http://www.ebi.ac.uk/efo/EFO_0002422 benign neoplasm 'benign neoplasm' SubClassOf 'neoplasm' 'cancer' DisjointWith 'benign neoplasm' 'benign neoplasm' SubClassOf 'neoplasm' http://www.ebi.ac.uk/efo/EFO_0003750 MBD-seq 'MBD-seq' SubClassOf 'has_participant' some 'high throughput sequencer' 'MBD-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0003751 MNase-seq 'MNase-seq' SubClassOf 'has_participant' some 'sequencer' 'MNase-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0002424 fibroma 'fibroma' SubClassOf 'Fibroblastic Neoplasm' http://www.ebi.ac.uk/efo/EFO_0003756 autism spectrum disorder 'autism spectrum disorder' SubClassOf 'central nervous system disease' 'autism spectrum disorder' SubClassOf 'has_disease_location' some 'nervous system developmental tissue' 'autism spectrum disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000594 http://www.ebi.ac.uk/efo/EFO_0002423 osteoma 'osteoma' SubClassOf 'bone neoplasm' 'osteoma' SubClassOf 'benign neoplasm' 'osteoma' SubClassOf 'bone disease' 'osteoma' SubClassOf 'has_disease_location' some 'bone' 'osteoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000631 http://www.ebi.ac.uk/efo/EFO_0003757 Asperger syndrome 'Asperger syndrome' SubClassOf 'autism spectrum disorder' 'Asperger syndrome' SubClassOf 'autism spectrum disorder' http://www.ebi.ac.uk/efo/EFO_0002426 neoplasm of mature T-cells or NK-cells 'neoplasm of mature T-cells or NK-cells' SubClassOf 'lymphoid neoplasm' 'neoplasm of mature T-cells or NK-cells' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024615 http://www.ebi.ac.uk/efo/EFO_0003754 EST sequencing 'EST sequencing' SubClassOf 'has_participant' some 'sequencer' 'EST sequencing' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0002425 neoplasm of immature B and T cells 'neoplasm of immature B and T cells' SubClassOf 'lymphoid neoplasm' 'neoplasm of immature B and T cells' SubClassOf 'lymphoid neoplasm' http://www.ebi.ac.uk/efo/EFO_0003755 FL-cDNA 'FL-cDNA' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'FL-cDNA' SubClassOf 'has_participant' some 'sequencer' http://www.ebi.ac.uk/efo/EFO_0002428 chronic myeloproliferative disorder 'chronic myeloproliferative disorder' SubClassOf 'myeloid neoplasm' 'chronic myeloproliferative disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015756 'chronic myeloproliferative disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021138 'chronic myeloproliferative disorder' SubClassOf 'myeloid neoplasm' 'chronic myeloproliferative disorder' SubClassOf 'has modifier' some 'chronic' http://www.ebi.ac.uk/efo/EFO_0002427 myeloid neoplasm 'myeloid neoplasm' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044881 'myeloid neoplasm' EquivalentTo 'neoplasm' and ('has_disease_location' some 'myeloid cell') http://www.orpha.net/ORDO/Orphanet_217622 Sensorineural deafness with dilated cardiomyopathy 'Sensorineural deafness with dilated cardiomyopathy' SubClassOf 'Syndrome associated with dilated cardiomyopathy' 'Sensorineural deafness with dilated cardiomyopathy' SubClassOf 'Syndrome associated with dilated cardiomyopathy' http://www.ebi.ac.uk/efo/EFO_0003758 autism 'autism' SubClassOf 'autism spectrum disorder' 'autism' SubClassOf 'autism spectrum disorder' http://www.ebi.ac.uk/efo/EFO_0002429 polycythemia vera 'polycythemia vera' SubClassOf 'chronic myeloproliferative disorder' 'polycythemia vera' SubClassOf 'polycythemia' 'polycythemia vera' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020703 'polycythemia vera' SubClassOf 'polycythemia' http://www.ebi.ac.uk/efo/EFO_0003759 pervasive developmental disorder - not otherwise specified 'pervasive developmental disorder - not otherwise specified' SubClassOf 'autism spectrum disorder' 'pervasive developmental disorder - not otherwise specified' SubClassOf 'autism spectrum disorder' http://www.orpha.net/ORDO/Orphanet_749 Congenital prekallikrein deficiency 'Congenital prekallikrein deficiency' SubClassOf 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' 'Congenital prekallikrein deficiency' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0044744 and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) 'Congenital prekallikrein deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044744 'Congenital prekallikrein deficiency' SubClassOf 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' http://www.orpha.net/ORDO/Orphanet_748 Mendelian susceptibility to mycobacterial diseases 'Mendelian susceptibility to mycobacterial diseases' SubClassOf 'Genetic susceptibility to infections due to particular pathogens' 'Mendelian susceptibility to mycobacterial diseases' SubClassOf 'Genetic susceptibility to infections due to particular pathogens' http://www.orpha.net/ORDO/Orphanet_746 Mitochondrial trifunctional protein deficiency 'Mitochondrial trifunctional protein deficiency' SubClassOf 'Mitochondrial myopathy' 'Mitochondrial trifunctional protein deficiency' SubClassOf 'Rare hereditary metabolic disease with peripheral neuropathy' 'Mitochondrial trifunctional protein deficiency' SubClassOf 'Disorder of mitochondrial fatty acid oxidation' 'Mitochondrial trifunctional protein deficiency' SubClassOf 'Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy' 'Mitochondrial trifunctional protein deficiency' SubClassOf 'Mitochondrial disease with hypertrophic cardiomyopathy' 'Mitochondrial trifunctional protein deficiency' SubClassOf 'Mitochondrial myopathy' 'Mitochondrial trifunctional protein deficiency' SubClassOf 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' http://www.orpha.net/ORDO/Orphanet_766 Hemolytic anemia due to red cell pyruvate kinase deficiency 'Hemolytic anemia due to red cell pyruvate kinase deficiency' SubClassOf 'Hemolytic anemia due to a disorder of glycolytic enzymes' 'Hemolytic anemia due to red cell pyruvate kinase deficiency' SubClassOf 'Pyruvate metabolism disorder' 'Hemolytic anemia due to red cell pyruvate kinase deficiency' SubClassOf 'congenital nonspherocytic hemolytic anemia' 'Hemolytic anemia due to red cell pyruvate kinase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003689 'Hemolytic anemia due to red cell pyruvate kinase deficiency' SubClassOf 'Hemolytic anemia due to a disorder of glycolytic enzymes' 'Hemolytic anemia due to red cell pyruvate kinase deficiency' SubClassOf 'Disorder of glycolysis' http://www.orpha.net/ORDO/Orphanet_765 Pyruvate dehydrogenase deficiency 'Pyruvate dehydrogenase deficiency' SubClassOf 'Mitochondrial disease with peripheral neuropathy' 'Pyruvate dehydrogenase deficiency' SubClassOf 'Syndromic neurometabolic disease with X-linked intellectual disability' 'Pyruvate dehydrogenase deficiency' SubClassOf 'Mitochondrial disease' 'Pyruvate dehydrogenase deficiency' SubClassOf 'Pyruvate metabolism disorder' 'Pyruvate dehydrogenase deficiency' SubClassOf 'Cerebral organic aciduria' 'Pyruvate dehydrogenase deficiency' SubClassOf 'Mitochondrial disease with peripheral neuropathy' 'Pyruvate dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044971 'Pyruvate dehydrogenase deficiency' SubClassOf 'Disorder of carbohydrate metabolism' 'Pyruvate dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016402 'Pyruvate dehydrogenase deficiency' SubClassOf 'Monogenic disease with epilepsy' 'Pyruvate dehydrogenase deficiency' SubClassOf 'Syndromic neurometabolic disease with X-linked intellectual disability' 'Pyruvate dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044976 'Pyruvate dehydrogenase deficiency' SubClassOf 'Pyruvate metabolism disorder' http://www.orpha.net/ORDO/Orphanet_171886 Cylindrical spirals myopathy 'Cylindrical spirals myopathy' SubClassOf 'Congenital myopathy' 'Cylindrical spirals myopathy' SubClassOf 'Congenital myopathy' http://www.ebi.ac.uk/efo/EFO_0003781 carotid artery disease 'carotid artery disease' SubClassOf 'vascular disease' 'carotid artery disease' SubClassOf 'cerebrovascular disorder' 'carotid artery disease' EquivalentTo 'has_disease_location' some 'carotid artery' 'carotid artery disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000473 http://www.orpha.net/ORDO/Orphanet_171889 Myopathy with hexagonally cross-linked tubular arrays 'Myopathy with hexagonally cross-linked tubular arrays' SubClassOf 'Congenital myopathy' 'Myopathy with hexagonally cross-linked tubular arrays' SubClassOf 'Congenital myopathy' http://www.orpha.net/ORDO/Orphanet_763 Pycnodysostosis 'Pycnodysostosis' SubClassOf 'Lysosomal disease' 'Pycnodysostosis' SubClassOf 'Osteopetrosis' 'Pycnodysostosis' SubClassOf 'Lysosomal disease' 'Pycnodysostosis' SubClassOf 'Osteopetrosis' 'Pycnodysostosis' SubClassOf 'osteochondrodysplasia' http://www.ebi.ac.uk/efo/EFO_0003782 motor neuron disease 'motor neuron disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044979 'motor neuron disease' SubClassOf 'neuromuscular disease' 'motor neuron disease' EquivalentTo 'has_disease_location' some 'motor neuron' 'motor neuron disease' SubClassOf 'realized_in' some ('disease course' and ('has part' some 'neurodegeneration')) http://www.orpha.net/ORDO/Orphanet_228305 Carnitine palmitoyl transferase II deficiency, severe infantile form 'Carnitine palmitoyl transferase II deficiency, severe infantile form' SubClassOf 'Carnitine palmitoyltransferase II deficiency' 'Carnitine palmitoyl transferase II deficiency, severe infantile form' SubClassOf 'Carnitine palmitoyltransferase II deficiency' http://www.ebi.ac.uk/efo/EFO_0001120 GM11832 'GM11832' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('organism part' and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_0002451 HUVEC cell 'HUVEC cell' SubClassOf 'located_in' some 'umbilical vein' http://www.orpha.net/ORDO/Orphanet_228302 Carnitine palmitoyl transferase II deficiency, myopathic form 'Carnitine palmitoyl transferase II deficiency, myopathic form' SubClassOf 'Carnitine palmitoyltransferase II deficiency' 'Carnitine palmitoyl transferase II deficiency, myopathic form' SubClassOf 'Carnitine palmitoyltransferase II deficiency' http://www.ebi.ac.uk/efo/EFO_0003780 Behcet's syndrome 'Behcet's syndrome' SubClassOf 'vascular disease' 'Behcet's syndrome' SubClassOf 'has_disease_location' some 'blood vessel' 'Behcet's syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017259 'Behcet's syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015488 'Behcet's syndrome' SubClassOf 'related to' some 'vasculitis' 'Behcet's syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003346 'Behcet's syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019293 'Behcet's syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019724 'Behcet's syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015657 'Behcet's syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017370 'Behcet's syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017260 'Behcet's syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017957 'Behcet's syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017261 http://www.orpha.net/ORDO/Orphanet_760 Purine nucleoside phosphorylase deficiency 'Purine nucleoside phosphorylase deficiency' SubClassOf 'Combined T and B cell immunodeficiency' 'Purine nucleoside phosphorylase deficiency' SubClassOf 'Disorder of purine metabolism' 'Purine nucleoside phosphorylase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018814 'Purine nucleoside phosphorylase deficiency' SubClassOf 'Disorder of purine metabolism' http://www.ebi.ac.uk/efo/EFO_0003785 allergy 'allergy' SubClassOf 'immune system disease' 'allergy' SubClassOf 'participates_in' some 'hypersensitivity' 'allergy' DisjointWith 'type II hypersensitivity reaction disease' 'allergy' SubClassOf 'hypersensitivity reaction disease' http://www.ebi.ac.uk/efo/EFO_0001122 GM11881 'GM11881' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('organism part' and ('part_of' some 'organism')))) http://www.orpha.net/ORDO/Orphanet_228308 Carnitine palmitoyl transferase II deficiency, neonatal form 'Carnitine palmitoyl transferase II deficiency, neonatal form' SubClassOf 'Carnitine palmitoyltransferase II deficiency' 'Carnitine palmitoyl transferase II deficiency, neonatal form' SubClassOf 'Carnitine palmitoyltransferase II deficiency' http://www.ebi.ac.uk/efo/EFO_0001121 GM11839 'GM11839' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('organism part' and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_0003786 cytokine 'cytokine' EquivalentTo 'has_role' some 'cytokine role' http://www.ebi.ac.uk/efo/EFO_0001124 GM11992 'GM11992' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('organism part' and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_0002455 obsolete_hippocampus CA2 'obsolete_hippocampus CA2' SubClassOf 'obsolete class' 'obsolete_hippocampus CA2' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003783 progressive bulbar palsy 'progressive bulbar palsy' SubClassOf 'motor neuron disease' 'progressive bulbar palsy' SubClassOf 'palsy' 'progressive bulbar palsy' SubClassOf 'Riboflavin transporter deficiency' 'progressive bulbar palsy' SubClassOf 'brain disease' 'progressive bulbar palsy' SubClassOf 'cranial nerve palsy' 'progressive bulbar palsy' SubClassOf 'palsy' 'progressive bulbar palsy' SubClassOf 'has_disease_location' some 'motor neuron' http://www.ebi.ac.uk/efo/EFO_0001123 GM11882 'GM11882' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('organism part' and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_0002454 obsolete_hippocampus CA1 'obsolete_hippocampus CA1' SubClassOf 'obsolete class' 'obsolete_hippocampus CA1' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001126 GM11994 'GM11994' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('organism part' and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_0002457 obsolete_hippocampus CA4 'obsolete_hippocampus CA4' SubClassOf 'obsolete class' 'obsolete_hippocampus CA4' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001125 GM11993 'GM11993' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('organism part' and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_0002456 obsolete_hippocampus CA3 'obsolete_hippocampus CA3' SubClassOf 'obsolete class' 'obsolete_hippocampus CA3' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001128 GM12003 'GM12003' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('organism part' and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_0002459 obsolete_nucleus accumbens shell 'obsolete_nucleus accumbens shell' SubClassOf 'obsolete class' 'obsolete_nucleus accumbens shell' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003787 cytokine role 'cytokine role' SubClassOf 'inheres_in' some 'cytokine' http://www.ebi.ac.uk/efo/EFO_0001127 GM11995 'GM11995' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('organism part' and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_0002458 obsolete_nucleus accumbens core 'obsolete_nucleus accumbens core' SubClassOf 'obsolete class' 'obsolete_nucleus accumbens core' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001129 GM12004 'GM12004' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('organism part' and ('part_of' some 'organism')))) http://www.orpha.net/ORDO/Orphanet_217656 Familial isolated arrhythmogenic right ventricular dysplasia 'Familial isolated arrhythmogenic right ventricular dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016587 http://www.orpha.net/ORDO/Orphanet_758 Pseudoxanthoma elasticum 'Pseudoxanthoma elasticum' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Pseudoxanthoma elasticum' SubClassOf 'Familial restrictive cardiomyopathy' 'Pseudoxanthoma elasticum' SubClassOf 'Malformation syndrome with connective tissue involvement' 'Pseudoxanthoma elasticum' SubClassOf 'Connective tissue disease with eye involvement' 'Pseudoxanthoma elasticum' SubClassOf 'Genetic dermis elastic tissue disorder' 'Pseudoxanthoma elasticum' SubClassOf 'Genetic hypertension' 'Pseudoxanthoma elasticum' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Pseudoxanthoma elasticum' SubClassOf 'Familial restrictive cardiomyopathy' 'Pseudoxanthoma elasticum' SubClassOf 'Genetic dermis elastic tissue disorder' 'Pseudoxanthoma elasticum' SubClassOf 'autosomal recessive disease' 'Pseudoxanthoma elasticum' SubClassOf 'Genetic hypertension' 'Pseudoxanthoma elasticum' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0024308 and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) 'Pseudoxanthoma elasticum' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Pseudoxanthoma elasticum' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024308 'Pseudoxanthoma elasticum' SubClassOf 'Malformation syndrome with connective tissue involvement' 'Pseudoxanthoma elasticum' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 'Pseudoxanthoma elasticum' SubClassOf 'Connective tissue disease with eye involvement' 'Pseudoxanthoma elasticum' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 'Pseudoxanthoma elasticum' SubClassOf 'Genetic central nervous system and retinal vascular disease' http://www.orpha.net/ORDO/Orphanet_757 Pseudohypoaldosteronism type 2 'Pseudohypoaldosteronism type 2' SubClassOf 'Genetic hypertension' 'Pseudohypoaldosteronism type 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018638 'Pseudohypoaldosteronism type 2' SubClassOf 'Genetic hypertension' http://www.orpha.net/ORDO/Orphanet_778 Rett syndrome 'Rett syndrome' SubClassOf 'Motor stereotypies' 'Rett syndrome' SubClassOf 'Monogenic disease with epilepsy' 'Rett syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Rett syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000594 'Rett syndrome' SubClassOf 'Monogenic disease with epilepsy' 'Rett syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_777 X-linked non-syndromic intellectual disability 'X-linked non-syndromic intellectual disability' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000509 'X-linked non-syndromic intellectual disability' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000425 http://www.orpha.net/ORDO/Orphanet_776 X-linked intellectual disability with marfanoid habitus 'X-linked intellectual disability with marfanoid habitus' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'X-linked intellectual disability with marfanoid habitus' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability with marfanoid habitus' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'X-linked intellectual disability with marfanoid habitus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'X-linked intellectual disability with marfanoid habitus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100000 http://www.ebi.ac.uk/efo/EFO_0003770 diabetic retinopathy 'diabetic retinopathy' SubClassOf 'metabolic disease' 'diabetic retinopathy' SubClassOf 'retinopathy' 'diabetic retinopathy' SubClassOf 'has_disease_location' some 'retina' 'diabetic retinopathy' EquivalentTo 'retinopathy' and (http://purl.obolibrary.org/obo/RO_0004022 some 'diabetes mellitus') 'diabetic retinopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024297 'diabetic retinopathy' SubClassOf 'metabolic disease' 'diabetic retinopathy' SubClassOf http://purl.obolibrary.org/obo/RO_0004022 some 'diabetes mellitus' 'diabetic retinopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002311 http://www.orpha.net/ORDO/Orphanet_774 Hereditary hemorrhagic telangiectasia 'Hereditary hemorrhagic telangiectasia' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Hereditary hemorrhagic telangiectasia' SubClassOf 'Malformation syndrome with hamartosis' 'Hereditary hemorrhagic telangiectasia' SubClassOf 'Genetic neurovascular malformation' 'Hereditary hemorrhagic telangiectasia' SubClassOf 'Conjunctival telangiectasia' 'Hereditary hemorrhagic telangiectasia' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'Hereditary hemorrhagic telangiectasia' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Hereditary hemorrhagic telangiectasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015938 'Hereditary hemorrhagic telangiectasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 'Hereditary hemorrhagic telangiectasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016231 'Hereditary hemorrhagic telangiectasia' SubClassOf 'Genetic central nervous system and retinal vascular disease' 'Hereditary hemorrhagic telangiectasia' SubClassOf 'Malformation syndrome with hamartosis' 'Hereditary hemorrhagic telangiectasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Hereditary hemorrhagic telangiectasia' SubClassOf 'Genetic neurovascular malformation' 'Hereditary hemorrhagic telangiectasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019293 'Hereditary hemorrhagic telangiectasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 'Hereditary hemorrhagic telangiectasia' SubClassOf 'Conjunctival telangiectasia' 'Hereditary hemorrhagic telangiectasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001576 http://www.ebi.ac.uk/efo/EFO_0003771 obsolete_abdominal fat 'obsolete_abdominal fat' SubClassOf 'obsolete class' 'obsolete_abdominal fat' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_773 Refsum disease 'Refsum disease' SubClassOf 'Neurometabolic disease' 'Refsum disease' SubClassOf 'Leukodystrophy' 'Refsum disease' SubClassOf 'Autosomal recessive metabolic cerebellar ataxia' 'Refsum disease' SubClassOf 'Syndromic ichthyosis associated with ocular features' 'Refsum disease' SubClassOf 'Disorder of peroxisomal alpha-, beta- and omega-oxidation' 'Refsum disease' SubClassOf 'Metabolic disease with pigmentary retinitis' 'Refsum disease' SubClassOf 'Autosomal ichthyosis syndrome with prominent neurologics signs' 'Refsum disease' SubClassOf 'Rare hereditary metabolic disease with peripheral neuropathy' 'Refsum disease' SubClassOf 'Cataract associated with a metabolic disease' 'Refsum disease' SubClassOf 'Neurometabolic disease' 'Refsum disease' SubClassOf 'Developmental anomaly of metabolic origin' 'Refsum disease' SubClassOf 'Metabolic disease with dementia' 'Refsum disease' SubClassOf 'Autosomal ichthyosis syndrome with prominent neurologics signs' 'Refsum disease' SubClassOf 'Rare hereditary metabolic disease with peripheral neuropathy' 'Refsum disease' SubClassOf 'Genetic non-syndromic central nervous system malformation' 'Infantile Refsum disease' DisjointWith 'Refsum disease' 'Refsum disease' SubClassOf 'Leukodystrophy' 'Refsum disease' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'Refsum disease' SubClassOf 'Autosomal recessive metabolic cerebellar ataxia' 'Refsum disease' SubClassOf 'Syndromic ichthyosis associated with ocular features' 'Refsum disease' SubClassOf 'Disorder of peroxisomal alpha-, beta- and omega-oxidation' 'Refsum disease' SubClassOf 'Metabolic disease with pigmentary retinitis' 'Refsum disease' SubClassOf 'Autosomal recessive congenital ichthyosis' 'Refsum disease' SubClassOf 'Cataract associated with a metabolic disease' http://www.orpha.net/ORDO/Orphanet_772 Infantile Refsum disease 'Infantile Refsum disease' SubClassOf 'Metabolic disease with pigmentary retinitis' 'Infantile Refsum disease' SubClassOf 'Peroxisome biogenesis disorder-Zellweger syndrome spectrum' 'Infantile Refsum disease' SubClassOf 'Unclassified primitive or secondary maculopathy' 'Infantile Refsum disease' SubClassOf 'Autosomal recessive metabolic cerebellar ataxia' 'Infantile Refsum disease' SubClassOf 'Developmental anomaly of metabolic origin' 'Infantile Refsum disease' SubClassOf 'Metabolic disease with dementia' 'Infantile Refsum disease' SubClassOf 'Metabolic disease with pigmentary retinitis' 'Infantile Refsum disease' SubClassOf 'Peroxisome biogenesis disorder-Zellweger syndrome spectrum' 'Infantile Refsum disease' SubClassOf 'Unclassified primitive or secondary maculopathy' 'Infantile Refsum disease' SubClassOf 'Autosomal recessive metabolic cerebellar ataxia' 'Infantile Refsum disease' SubClassOf 'Developmental anomaly of metabolic origin' 'Infantile Refsum disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016398 'Infantile Refsum disease' SubClassOf 'Monogenic disease with epilepsy' 'Infantile Refsum disease' DisjointWith 'Refsum disease' http://www.ebi.ac.uk/efo/EFO_0001111 GM07022 'GM07022' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('organism part' and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_0001110 GM07000 'GM07000' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('organism part' and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_0003775 obsolete_Job's syndrome 'obsolete_Job's syndrome' SubClassOf 'obsolete class' 'obsolete_Job's syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001113 GM07055 'GM07055' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('organism part' and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_0001112 GM07034 'GM07034' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('organism part' and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_0002443 obsolete_oocyte 'obsolete_oocyte' SubClassOf 'obsolete class' 'obsolete_oocyte' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003773 obsolete_endocrine system component 'obsolete_endocrine system component' SubClassOf 'obsolete class' 'obsolete_endocrine system component' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001115 GM07345 'GM07345' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('organism part' and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_0003778 psoriatic arthritis 'psoriatic arthritis' SubClassOf 'immune system disease' 'psoriatic arthritis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 'psoriatic arthritis' SubClassOf 'rheumatoid arthritis' 'psoriatic arthritis' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'psoriasis' 'psoriatic arthritis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020573 'psoriatic arthritis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 http://www.ebi.ac.uk/efo/EFO_0001114 GM07056 'GM07056' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('organism part' and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_0003779 Hashimoto's thyroiditis 'Hashimoto's thyroiditis' SubClassOf 'autoimmune thyroid disease' 'Hashimoto's thyroiditis' SubClassOf 'autoimmune thyroid disease' http://www.ebi.ac.uk/efo/EFO_0001117 GM11829 'GM11829' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('organism part' and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_0003777 heart disease 'heart disease' SubClassOf 'cardiovascular disease' 'heart disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000651 'heart disease' SubClassOf 'cardiovascular disease' 'heart disease' EquivalentTo 'has_disease_location' some ('heart' or ('part_of' some 'heart')) http://www.ebi.ac.uk/efo/EFO_0001116 GM07357 'GM07357' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('organism part' and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_0001119 GM11831 'GM11831' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('organism part' and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_0001118 GM11830 'GM11830' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('organism part' and ('part_of' some 'organism')))) http://www.orpha.net/ORDO/Orphanet_769 Rabson-Mendenhall syndrome 'Rabson-Mendenhall syndrome' SubClassOf 'Hypertrichosis' 'Rabson-Mendenhall syndrome' SubClassOf 'Rare insulin-resistance syndrome' 'Rabson-Mendenhall syndrome' SubClassOf 'Hypertrichosis' 'Rabson-Mendenhall syndrome' SubClassOf 'Rare insulin-resistance syndrome' 'Rabson-Mendenhall syndrome' SubClassOf 'Inborn errors of metabolism' 'Rabson-Mendenhall syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 http://www.orpha.net/ORDO/Orphanet_768 Familial long QT syndrome 'Familial long QT syndrome' SubClassOf 'Genetic cardiac rhythm disease' 'Familial long QT syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002442 'Familial long QT syndrome' SubClassOf 'Genetic cardiac rhythm disease' 'Familial long QT syndrome' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0002442 and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) http://www.orpha.net/ORDO/Orphanet_171863 Autosomal dominant spastic paraplegia type 42 'Autosomal dominant spastic paraplegia type 42' SubClassOf 'Autosomal dominant pure spastic paraplegia' 'Autosomal dominant spastic paraplegia type 42' SubClassOf 'Autosomal dominant pure spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_786 Glucocorticoid resistance 'Glucocorticoid resistance' SubClassOf 'Adrenogenital syndrome' 'Glucocorticoid resistance' SubClassOf '46,XX disorder of sex development induced by fetal androgens excess' 'Glucocorticoid resistance' SubClassOf 'Adrenogenital syndrome' 'Glucocorticoid resistance' SubClassOf '46,XX disorder of sex development induced by fetal androgens excess' 'Glucocorticoid resistance' SubClassOf 'Developmental anomaly of metabolic origin' http://www.ebi.ac.uk/efo/EFO_0001140 GM12155 'GM12155' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('organism part' and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_0002471 obsolete_posterior cingulate cortex 'obsolete_posterior cingulate cortex' SubClassOf 'obsolete class' 'obsolete_posterior cingulate cortex' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002470 obsolete_periaqueductal gray 'obsolete_periaqueductal gray' SubClassOf 'obsolete class' 'obsolete_periaqueductal gray' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_171866 Spondyloepimetaphyseal dysplasia, aggrecan type 'Spondyloepimetaphyseal dysplasia, aggrecan type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Spondyloepimetaphyseal dysplasia, aggrecan type' SubClassOf 'Aggrecan-related bone disorder' 'Spondyloepimetaphyseal dysplasia, aggrecan type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Spondyloepimetaphyseal dysplasia, aggrecan type' SubClassOf 'Aggrecan-related bone disorder' 'Spondyloepimetaphyseal dysplasia, aggrecan type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000844 http://www.ebi.ac.uk/efo/EFO_0001142 GM12234 'GM12234' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('organism part' and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_0002473 stamen abscission zone 'stamen abscission zone' SubClassOf 'part_of' some 'plant reproductive system structure' http://www.orpha.net/ORDO/Orphanet_783 Rubinstein-Taybi syndrome 'Rubinstein-Taybi syndrome' SubClassOf 'Rare disease with glaucoma as a major feature' 'Rubinstein-Taybi syndrome' SubClassOf 'Unclassified primitive or secondary maculopathy' 'Rubinstein-Taybi syndrome' SubClassOf 'Syndromic obesity' 'Rubinstein-Taybi syndrome' SubClassOf 'Lens shape anomaly' 'Rubinstein-Taybi syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Rubinstein-Taybi syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Rubinstein-Taybi syndrome' SubClassOf 'Syndrome with brachydactyly' 'Rubinstein-Taybi syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Rubinstein-Taybi syndrome' SubClassOf 'Genetic malformation syndrome with short stature' 'Rubinstein-Taybi syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Rubinstein-Taybi syndrome' SubClassOf 'Unclassified primitive or secondary maculopathy' 'Rubinstein-Taybi syndrome' SubClassOf 'Syndromic obesity' 'Rubinstein-Taybi syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Rubinstein-Taybi syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Rubinstein-Taybi syndrome' SubClassOf 'Genetic malformation syndrome with short stature' 'Rubinstein-Taybi syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016756 'Rubinstein-Taybi syndrome' SubClassOf 'Rare disease with glaucoma as a major feature' 'Rubinstein-Taybi syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Rubinstein-Taybi syndrome' SubClassOf 'Lens shape anomaly' 'Rubinstein-Taybi syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 'Rubinstein-Taybi syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Rubinstein-Taybi syndrome' SubClassOf 'Syndrome with brachydactyly' 'Rubinstein-Taybi syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.ebi.ac.uk/efo/EFO_0001141 GM12156 'GM12156' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('organism part' and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_0002472 obsolete_somatomotor cortex 'obsolete_somatomotor cortex' SubClassOf 'obsolete class' 'obsolete_somatomotor cortex' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_782 Axenfeld-Rieger syndrome 'Axenfeld-Rieger syndrome' SubClassOf 'Rare disease with glaucoma as a major feature' 'Axenfeld-Rieger syndrome' SubClassOf 'Rare eye disease due to a differentiation anomaly' 'Axenfeld-Rieger syndrome' SubClassOf 'Disease associated with non-acquired combined pituitary hormone deficiency' 'Axenfeld-Rieger syndrome' SubClassOf 'Iridogoniodysgenesis' 'Axenfeld-Rieger syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Axenfeld-Rieger syndrome' SubClassOf 'Syndromic anorectal malformation' 'Axenfeld-Rieger syndrome' SubClassOf 'Rare disease with glaucoma as a major feature' 'Axenfeld-Rieger syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Axenfeld-Rieger syndrome' SubClassOf 'Rare eye disease due to a differentiation anomaly' 'Axenfeld-Rieger syndrome' SubClassOf 'Disease associated with non-acquired combined pituitary hormone deficiency' 'Axenfeld-Rieger syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Axenfeld-Rieger syndrome' SubClassOf 'Iridogoniodysgenesis' 'Axenfeld-Rieger syndrome' SubClassOf 'Syndromic anorectal malformation' 'Axenfeld-Rieger syndrome' SubClassOf 'Isolated anorectal malformation' http://www.ebi.ac.uk/efo/EFO_0001144 GM12239 'GM12239' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('organism part' and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_0002475 obsolete_suprachiasmatic nucleus 'obsolete_suprachiasmatic nucleus' SubClassOf 'obsolete class' 'obsolete_suprachiasmatic nucleus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001143 GM12236 'GM12236' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('organism part' and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_0002474 obsolete_superior colliculus 'obsolete_superior colliculus' SubClassOf 'obsolete class' 'obsolete_superior colliculus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001146 GM12249 'GM12249' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('organism part' and ('part_of' some 'organism')))) http://purl.obolibrary.org/obo/NCBITaxon_310453 Neofusicoccum parvum 'Neofusicoccum parvum' SubClassOf 'Ascomycota' 'Neofusicoccum parvum' SubClassOf 'Ascomycota' http://www.ebi.ac.uk/efo/EFO_0001145 GM12248 'GM12248' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('organism part' and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_0002476 obsolete_supraoptic nucleus 'obsolete_supraoptic nucleus' SubClassOf 'obsolete class' 'obsolete_supraoptic nucleus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_228329 CLN1 disease 'CLN1 disease' SubClassOf 'Juvenile neuronal ceroid lipofuscinosis' 'CLN1 disease' SubClassOf 'Infantile neuronal ceroid lipofuscinosis' 'CLN1 disease' SubClassOf 'Late infantile neuronal ceroid lipofuscinosis' 'CLN1 disease' SubClassOf 'Adult neuronal ceroid lipofuscinosis' 'CLN1 disease' SubClassOf 'Juvenile neuronal ceroid lipofuscinosis' 'CLN1 disease' SubClassOf 'Infantile neuronal ceroid lipofuscinosis' 'CLN1 disease' SubClassOf 'Late infantile neuronal ceroid lipofuscinosis' 'CLN1 disease' SubClassOf 'Adult neuronal ceroid lipofuscinosis' http://www.ebi.ac.uk/efo/EFO_0001148 GM12717 'GM12717' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('organism part' and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_0001147 GM12716 'GM12716' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('organism part' and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_0001149 GM12750 'GM12750' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'GM12750' SubClassOf 'is_input_of' some 'HapMap haplotype mapping' http://www.ebi.ac.uk/efo/EFO_1000705 granulomatous dermatitis 'granulomatous dermatitis' SubClassOf 'skin disease' 'granulomatous dermatitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002406 'granulomatous dermatitis' SubClassOf 'skin disease' http://www.ebi.ac.uk/efo/EFO_1000706 hand dermatosis 'hand dermatosis' SubClassOf 'skin disease' 'hand dermatosis' SubClassOf 'skin disease' 'hand dermatosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044990 http://www.ebi.ac.uk/efo/EFO_1000703 fox fordyce disease 'fox fordyce disease' SubClassOf 'sweat gland disease' 'fox fordyce disease' SubClassOf 'sweat gland disease' http://www.ebi.ac.uk/efo/EFO_1000704 granuloma annulare 'granuloma annulare' SubClassOf 'skin disease' 'granuloma annulare' SubClassOf 'skin disease' 'granuloma annulare' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002406 http://www.ebi.ac.uk/efo/EFO_1000701 follicular mucinosis 'follicular mucinosis' SubClassOf 'sebaceous gland disease' 'follicular mucinosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021034 'follicular mucinosis' SubClassOf 'Alopecia' 'follicular mucinosis' SubClassOf 'Genetic sebaceous gland anomaly' 'follicular mucinosis' SubClassOf 'sebaceous gland disease' 'follicular mucinosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021653 http://www.ebi.ac.uk/efo/EFO_1000702 folliculitis 'folliculitis' SubClassOf 'skin disease' 'folliculitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002406 'folliculitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002917 'folliculitis' SubClassOf 'skin disease' http://www.ebi.ac.uk/efo/EFO_1000700 fibroepithelial polyp of urethra 'fibroepithelial polyp of urethra' SubClassOf 'polyp' 'fibroepithelial polyp of urethra' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021239 'fibroepithelial polyp of urethra' SubClassOf 'polyp' 'fibroepithelial polyp of urethra' SubClassOf http://purl.obolibrary.org/obo/MONDO_0060765 http://www.ebi.ac.uk/efo/EFO_1000709 pemphigoid gestationis 'pemphigoid gestationis' SubClassOf 'vesiculobullous skin disease' 'pemphigoid gestationis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000601 'pemphigoid gestationis' SubClassOf 'vesiculobullous skin disease' 'pemphigoid gestationis' SubClassOf 'pemphigus' 'pemphigoid gestationis' SubClassOf 'pregnancy disorder' http://www.orpha.net/ORDO/Orphanet_156237 Syndrome or malformation associated with head and neck malformations 'Syndrome or malformation associated with head and neck malformations' SubClassOf 'Genetic head and neck malformation' 'Syndrome or malformation associated with head and neck malformations' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019038 'Syndrome or malformation associated with head and neck malformations' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015475 'Syndrome or malformation associated with head and neck malformations' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024623 http://www.ebi.ac.uk/efo/EFO_1000707 hemangioma of subcutaneous tissue 'hemangioma of subcutaneous tissue' SubClassOf 'hemangioma' 'hemangioma of subcutaneous tissue' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019296 'hemangioma of subcutaneous tissue' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000652 'hemangioma of subcutaneous tissue' SubClassOf 'hemangioma' http://www.ebi.ac.uk/efo/EFO_1000708 hereditary papulotranslucent acrokeratoderma 'hereditary papulotranslucent acrokeratoderma' SubClassOf 'keratosis' 'hereditary papulotranslucent acrokeratoderma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 'hereditary papulotranslucent acrokeratoderma' SubClassOf 'keratosis' http://www.orpha.net/ORDO/Orphanet_171871 Renal pseudohypoaldosteronism type 1 'Renal pseudohypoaldosteronism type 1' SubClassOf 'Pseudohypoaldosteronism type 1' 'Renal pseudohypoaldosteronism type 1' SubClassOf 'Pseudohypoaldosteronism type 1' http://purl.obolibrary.org/obo/CHEBI_68443 1-methylxanthine '1-methylxanthine' SubClassOf 'chemical entity' '1-methylxanthine' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_799 Schizencephaly 'Schizencephaly' SubClassOf 'Cerebral malformation with epilepsy' 'Schizencephaly' SubClassOf 'Encephaloclastic disorder' 'Schizencephaly' SubClassOf 'Cerebral malformation with epilepsy' 'Schizencephaly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018790 'Schizencephaly' SubClassOf 'Encephaloclastic disorder' http://www.orpha.net/ORDO/Orphanet_171876 Generalized pseudohypoaldosteronism type 1 'Generalized pseudohypoaldosteronism type 1' SubClassOf 'Pseudohypoaldosteronism type 1' 'Generalized pseudohypoaldosteronism type 1' SubClassOf 'Pseudohypoaldosteronism type 1' http://www.orpha.net/ORDO/Orphanet_798 Schinzel-Giedion syndrome 'Schinzel-Giedion syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Schinzel-Giedion syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Schinzel-Giedion syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Schinzel-Giedion syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Schinzel-Giedion syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Schinzel-Giedion syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007 'Schinzel-Giedion syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' http://www.orpha.net/ORDO/Orphanet_797 Sarcoidosis 'Sarcoidosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017955 'Sarcoidosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015938 'Sarcoidosis' SubClassOf 'has_disease_location' some 'lung' http://www.ebi.ac.uk/efo/EFO_0003792 interleukin (Mus musculus) 'interleukin (Mus musculus)' EquivalentTo 'derives_from' some 'Mus musculus' 'interleukin (Mus musculus)' SubClassOf 'has_role' some 'cytokine role' http://www.orpha.net/ORDO/Orphanet_796 Sandhoff disease 'Sandhoff disease' SubClassOf 'Metabolic disease with macular cherry-red spot' 'Sandhoff disease' SubClassOf 'Rare hereditary metabolic disease with peripheral neuropathy' 'Sandhoff disease' SubClassOf 'GM2 gangliosidosis' 'Sandhoff disease' SubClassOf 'Metabolic disease with macular cherry-red spot' 'Sandhoff disease' SubClassOf 'Rare hereditary metabolic disease with peripheral neuropathy' 'Sandhoff disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004884 'Sandhoff disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020143 'Sandhoff disease' SubClassOf 'GM2 gangliosidosis' http://purl.obolibrary.org/obo/CHEBI_18185 gamma-tocopherol 'gamma-tocopherol' SubClassOf 'has_role' some 'vitamin' http://www.ebi.ac.uk/efo/EFO_0003793 interleukin (Rattus norvegicus) 'interleukin (Rattus norvegicus)' EquivalentTo 'derives_from' some 'Rattus norvegicus' 'interleukin (Rattus norvegicus)' SubClassOf 'has_role' some 'cytokine role' http://www.ebi.ac.uk/efo/EFO_0001131 GM12006 'GM12006' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('organism part' and ('part_of' some 'organism')))) http://www.orpha.net/ORDO/Orphanet_794 Saethre-Chotzen syndrome 'Saethre-Chotzen syndrome' SubClassOf 'Acrocephalosyndactyly' 'Saethre-Chotzen syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Saethre-Chotzen syndrome' SubClassOf 'Craniostenosis associated with a strabismus' 'Saethre-Chotzen syndrome' SubClassOf 'Acrocephalosyndactyly' 'Saethre-Chotzen syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Saethre-Chotzen syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Saethre-Chotzen syndrome' SubClassOf 'Craniostenosis associated with a strabismus' 'Saethre-Chotzen syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020169 http://www.ebi.ac.uk/efo/EFO_0001130 GM12005 'GM12005' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('organism part' and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_0002461 skeletal system disease 'skeletal system disease' SubClassOf 'musculoskeletal system disease' 'skeletal system disease' SubClassOf 'musculoskeletal system disease' 'skeletal system disease' EquivalentTo 'disease' and ('has_disease_location' some ('skeletal system' or ('part_of' some 'skeletal system'))) http://www.ebi.ac.uk/efo/EFO_0003791 interleukin (Homo sapiens) 'interleukin (Homo sapiens)' SubClassOf 'has_role' some 'cytokine role' 'interleukin (Homo sapiens)' EquivalentTo 'derives_from' some 'Homo sapiens' http://www.ebi.ac.uk/efo/EFO_0001133 GM12044 'GM12044' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('organism part' and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_0002464 obsolete_hair follicle 'obsolete_hair follicle' SubClassOf 'obsolete class' 'obsolete_hair follicle' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003796 interleukin-1 beta (Rattus norvegicus) 'interleukin-1 beta (Rattus norvegicus)' SubClassOf 'derives_from' some 'Rattus norvegicus' http://www.orpha.net/ORDO/Orphanet_792 X-linked retinoschisis 'X-linked retinoschisis' SubClassOf 'Vitreoretinal degeneration' 'X-linked retinoschisis' SubClassOf 'Non-syndromic developmental defect of the eye' 'X-linked retinoschisis' SubClassOf 'Unclassified primitive or secondary maculopathy' 'X-linked retinoschisis' SubClassOf 'Vitreoretinal degeneration' 'X-linked retinoschisis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004579 'X-linked retinoschisis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000425 'X-linked retinoschisis' SubClassOf 'Non-syndromic developmental defect of the eye' 'X-linked retinoschisis' SubClassOf 'Unclassified primitive or secondary maculopathy' http://www.ebi.ac.uk/efo/EFO_0001132 GM12043 'GM12043' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('organism part' and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_0002463 obsolete_geniculate nucleus 'obsolete_geniculate nucleus' SubClassOf 'obsolete class' 'obsolete_geniculate nucleus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003797 interleukin-13 (Homo sapiens) 'interleukin-13 (Homo sapiens)' SubClassOf 'derives_from' some 'Homo sapiens' http://www.orpha.net/ORDO/Orphanet_791 Retinitis pigmentosa 'Retinitis pigmentosa' SubClassOf 'Retinal dystrophy' 'Retinitis pigmentosa' SubClassOf 'Retinal dystrophy' http://www.ebi.ac.uk/efo/EFO_0001135 GM12057 'GM12057' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('organism part' and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_0002466 obsolete_middle temporal gyrus 'obsolete_middle temporal gyrus' SubClassOf 'obsolete class' 'obsolete_middle temporal gyrus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003794 interleukin-1 beta (Homo sapiens) 'interleukin-1 beta (Homo sapiens)' SubClassOf 'derives_from' some 'Homo sapiens' http://www.orpha.net/ORDO/Orphanet_790 Retinoblastoma 'Retinoblastoma' SubClassOf 'head and neck neoplasia' 'Retinoblastoma' SubClassOf 'retinopathy' 'Retinoblastoma' SubClassOf 'eye neoplasm' 'Retinoblastoma' SubClassOf 'neoplasm' and ('has_disease_location' some 'eye') 'Retinoblastoma' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Retinoblastoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004338 http://www.ebi.ac.uk/efo/EFO_0001134 GM12056 'GM12056' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('organism part' and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_0002465 obsolete_inferior colliculus 'obsolete_inferior colliculus' SubClassOf 'obsolete class' 'obsolete_inferior colliculus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003795 interleukin-1 beta (Mus musculus) 'interleukin-1 beta (Mus musculus)' SubClassOf 'derives_from' some 'Mus musculus' http://www.ebi.ac.uk/efo/EFO_0001137 GM12145 'GM12145' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('organism part' and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_0002468 obsolete_oculomotor nucleus 'obsolete_oculomotor nucleus' SubClassOf 'obsolete class' 'obsolete_oculomotor nucleus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001136 GM12144 'GM12144' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('organism part' and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_0002467 obsolete_motor cortex 'obsolete_motor cortex' SubClassOf 'obsolete class' 'obsolete_motor cortex' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001139 GM12154 'GM12154' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('organism part' and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_0003798 interleukin-13 (Mus musculus) 'interleukin-13 (Mus musculus)' SubClassOf 'derives_from' some 'Mus musculus' http://www.ebi.ac.uk/efo/EFO_0001138 GM12146 'GM12146' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('organism part' and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_0002469 obsolete_paraventricular nucleus 'obsolete_paraventricular nucleus' SubClassOf 'obsolete class' 'obsolete_paraventricular nucleus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003799 interleukin-14 (Mus musculus) 'interleukin-14 (Mus musculus)' SubClassOf 'derives_from' some 'Mus musculus' http://www.ebi.ac.uk/efo/EFO_1000716 obsolete_incontinentia pigmenti achromians 'obsolete_incontinentia pigmenti achromians' SubClassOf 'obsolete class' 'obsolete_incontinentia pigmenti achromians' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000717 inverted follicular keratosis 'inverted follicular keratosis' SubClassOf 'seborrheic keratosis' 'inverted follicular keratosis' SubClassOf 'seborrheic keratosis' http://www.ebi.ac.uk/efo/EFO_1000714 impetigo 'impetigo' SubClassOf 'pyoderma' 'impetigo' SubClassOf 'pyoderma' http://www.ebi.ac.uk/efo/EFO_1000715 impetigo herpetiformis 'impetigo herpetiformis' SubClassOf 'impetigo' 'impetigo herpetiformis' SubClassOf 'impetigo' http://www.ebi.ac.uk/efo/EFO_1000712 hypohidrosis 'hypohidrosis' SubClassOf 'sweat gland disease' 'hypohidrosis' SubClassOf 'sweat gland disease' http://www.ebi.ac.uk/efo/EFO_1000713 hypopigmentation of eyelid 'hypopigmentation of eyelid' SubClassOf 'pigmentation disease' 'hypopigmentation of eyelid' SubClassOf 'pigmentation disease' 'hypopigmentation of eyelid' SubClassOf 'eyelid disease' http://www.ebi.ac.uk/efo/EFO_1000710 hidradenitis suppurativa 'hidradenitis suppurativa' SubClassOf 'sweat gland disease' 'hidradenitis suppurativa' SubClassOf 'sweat gland disease' 'hidradenitis suppurativa' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002260 http://www.ebi.ac.uk/efo/EFO_1000711 hyperpigmentation of eyelid 'hyperpigmentation of eyelid' SubClassOf 'pigmentation disease' 'hyperpigmentation of eyelid' SubClassOf 'pigmentation disease' 'hyperpigmentation of eyelid' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 http://www.orpha.net/ORDO/Orphanet_171881 Cap myopathy 'Cap myopathy' SubClassOf 'Qualitative or quantitative defects of tropomyosin' 'Cap myopathy' SubClassOf 'Congenital myopathy' 'Cap myopathy' SubClassOf 'Qualitative or quantitative defects of tropomyosin' 'Cap myopathy' SubClassOf 'Congenital myopathy' http://www.ebi.ac.uk/efo/EFO_1000718 irritant dermatitis 'irritant dermatitis' SubClassOf 'contact dermatitis' 'irritant dermatitis' SubClassOf 'contact dermatitis' http://www.orpha.net/ORDO/Orphanet_156224 Paralytic facial malformation 'Paralytic facial malformation' SubClassOf 'Genetic head and neck malformation' 'Paralytic facial malformation' SubClassOf 'Genetic head and neck malformation' 'Paralytic facial malformation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019038 'Paralytic facial malformation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015475 http://www.ebi.ac.uk/efo/EFO_1000719 juvenile dermatitis herpetiformis 'juvenile dermatitis herpetiformis' SubClassOf 'dermatitis herpetiformis' 'juvenile dermatitis herpetiformis' SubClassOf 'dermatitis herpetiformis' http://www.ebi.ac.uk/efo/EFO_0001160 GM12873 'GM12873' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('blood' and ('part_of' some 'Homo sapiens')))) http://www.orpha.net/ORDO/Orphanet_228343 CLN4B disease 'CLN4B disease' SubClassOf 'Adult neuronal ceroid lipofuscinosis' 'CLN4B disease' SubClassOf 'Adult neuronal ceroid lipofuscinosis' http://www.ebi.ac.uk/efo/EFO_0001162 GM12875 'GM12875' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('blood' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0001161 GM12874 'GM12874' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('blood' and ('part_of' some 'Homo sapiens')))) http://www.orpha.net/ORDO/Orphanet_171844 Blindness-scoliosis-arachnodactyly syndrome 'Blindness-scoliosis-arachnodactyly syndrome' SubClassOf 'Malformation syndrome with connective tissue involvement' 'Blindness-scoliosis-arachnodactyly syndrome' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Blindness-scoliosis-arachnodactyly syndrome' SubClassOf 'eye disease' 'Blindness-scoliosis-arachnodactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Blindness-scoliosis-arachnodactyly syndrome' SubClassOf 'Malformation syndrome with connective tissue involvement' http://www.orpha.net/ORDO/Orphanet_228349 CLN2 disease 'CLN2 disease' SubClassOf 'Juvenile neuronal ceroid lipofuscinosis' 'CLN2 disease' SubClassOf 'Late infantile neuronal ceroid lipofuscinosis' 'CLN2 disease' SubClassOf 'Juvenile neuronal ceroid lipofuscinosis' 'CLN2 disease' SubClassOf 'Late infantile neuronal ceroid lipofuscinosis' http://www.ebi.ac.uk/efo/EFO_0001164 obsolete_GM12892 'obsolete_GM12892' SubClassOf 'obsolete class' 'obsolete_GM12892' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002495 obsolete_accelerated neurological senescence 'obsolete_accelerated neurological senescence' SubClassOf 'obsolete class' 'obsolete_accelerated neurological senescence' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_228346 CLN3 disease 'CLN3 disease' SubClassOf 'Juvenile neuronal ceroid lipofuscinosis' 'CLN3 disease' SubClassOf 'Juvenile neuronal ceroid lipofuscinosis' http://purl.obolibrary.org/obo/CHEBI_68434 gamma-Glu-Ile 'gamma-Glu-Ile' SubClassOf 'chemical entity' 'gamma-Glu-Ile' SubClassOf 'chemical entity' http://www.ebi.ac.uk/efo/EFO_0001163 obsolete_GM12891 'obsolete_GM12891' SubClassOf 'obsolete class' 'obsolete_GM12891' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001166 H720 'H720' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('lung' and ('part_of' some 'organism')))) 'H720' SubClassOf 'bearer_of' some 'small cell lung carcinoma' http://www.ebi.ac.uk/efo/EFO_0002497 acute hypotension 'acute hypotension' SubClassOf 'hypotension' 'acute hypotension' SubClassOf 'hypotension' 'acute hypotension' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020683 http://www.ebi.ac.uk/efo/EFO_0001165 obsolete_H209 'obsolete_H209' SubClassOf 'obsolete class' 'obsolete_H209' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002496 actinic keratosis 'actinic keratosis' SubClassOf 'skin disease' 'actinic keratosis' SubClassOf 'skin neoplasm' 'actinic keratosis' SubClassOf 'has_disease_location' some 'zone of skin' 'actinic keratosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000611 http://www.ebi.ac.uk/efo/EFO_1000720 keratosis 'keratosis' SubClassOf 'skin disease' 'keratosis' SubClassOf 'skin disease' 'keratosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0045011 http://www.orpha.net/ORDO/Orphanet_171848 Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract 'Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract' SubClassOf 'Syndromic retinitis pigmentosa' 'Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract' SubClassOf 'Rare hereditary disease with peripheral neuropathy' 'Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract' SubClassOf 'Syndromic genetic deafness' 'Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract' SubClassOf 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement' 'Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract' SubClassOf 'autosomal recessive disease' 'Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract' SubClassOf 'Rare syndromic dyslipidemia' 'Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract' SubClassOf 'Syndromic retinitis pigmentosa' 'Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract' SubClassOf 'Rare hereditary disease with peripheral neuropathy' 'Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract' SubClassOf 'Syndromic genetic deafness' 'Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract' SubClassOf 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement' 'Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract' SubClassOf 'Developmental anomaly of metabolic origin' http://www.ebi.ac.uk/efo/EFO_0001168 HCC1007 'HCC1007' SubClassOf 'bearer_of' some 'breast carcinoma' 'HCC1007' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('mammary gland' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0002499 anaplastic astrocytoma 'anaplastic astrocytoma' SubClassOf 'astrocytoma' 'anaplastic astrocytoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020633 'anaplastic astrocytoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019781 'anaplastic astrocytoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016680 http://www.ebi.ac.uk/efo/EFO_0001167 HBL100 'HBL100' SubClassOf 'bearer_of' some 'breast carcinoma' 'HBL100' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('mammary gland' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0002498 aggressive insulitis 'aggressive insulitis' SubClassOf 'endocrine system disease' 'aggressive insulitis' SubClassOf 'immune system disease' 'aggressive insulitis' SubClassOf 'immune system disease' 'aggressive insulitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001933 'aggressive insulitis' SubClassOf 'has_disease_location' some 'islet of Langerhans' http://www.ebi.ac.uk/efo/EFO_0001169 HCC1143 'HCC1143' SubClassOf 'bearer_of' some 'breast carcinoma' 'HCC1143' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('mammary gland' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_1000727 lipodystrophy 'lipodystrophy' SubClassOf 'skin disease' 'lipodystrophy' SubClassOf 'metabolic disease' 'lipodystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024297 'lipodystrophy' SubClassOf 'skin disease' http://www.ebi.ac.uk/efo/EFO_1000728 lipomatosis 'lipomatosis' SubClassOf 'skin disease' 'lipomatosis' SubClassOf 'skin disease' 'lipomatosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044983 'lipomatosis' SubClassOf 'skin neoplasm' http://www.ebi.ac.uk/efo/EFO_1000725 lichen nitidus 'lichen nitidus' SubClassOf 'lichen disease' 'lichen nitidus' SubClassOf 'lichen disease' http://www.ebi.ac.uk/efo/EFO_1000726 lichen planus 'lichen planus' SubClassOf 'lichen disease' 'lichen planus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002406 'lichen planus' SubClassOf 'lichen disease' http://www.orpha.net/ORDO/Orphanet_156252 Tracheal anomaly 'Tracheal anomaly' SubClassOf 'Rare otorhinolaryngological malformation' 'Tracheal anomaly' SubClassOf 'Rare otorhinolaryngological malformation' http://purl.obolibrary.org/obo/CHEBI_32484 glutamate residue 'glutamate residue' SubClassOf 'chemical entity' 'glutamate residue' SubClassOf 'chemical entity' http://www.ebi.ac.uk/efo/EFO_1000723 leg dermatosis 'leg dermatosis' SubClassOf 'skin disease' 'leg dermatosis' SubClassOf 'skin disease' http://www.ebi.ac.uk/efo/EFO_1000724 lichen disease 'lichen disease' SubClassOf 'skin disease' 'lichen disease' SubClassOf 'skin disease' http://www.ebi.ac.uk/efo/EFO_1000721 kernicterus due to isoimmunization 'kernicterus due to isoimmunization' SubClassOf 'neonatal jaundice' 'kernicterus due to isoimmunization' SubClassOf 'kernicterus' 'kernicterus due to isoimmunization' SubClassOf 'neonatal jaundice' 'kernicterus due to isoimmunization' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001240 http://www.ebi.ac.uk/efo/EFO_1000722 Kimura disease 'Kimura disease' SubClassOf 'skin disease' 'Kimura disease' SubClassOf 'skin disease' 'Kimura disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015938 http://www.orpha.net/ORDO/Orphanet_228340 CLN4A disease 'CLN4A disease' SubClassOf 'Adult neuronal ceroid lipofuscinosis' 'CLN4A disease' SubClassOf 'Adult neuronal ceroid lipofuscinosis' http://www.ebi.ac.uk/efo/EFO_1000729 loiasis 'loiasis' SubClassOf 'skin disease' 'loiasis' SubClassOf 'skin disease' 'loiasis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016075 http://www.orpha.net/ORDO/Orphanet_171851 MEDNIK syndrome 'MEDNIK syndrome' SubClassOf 'Autosomal ichthyosis syndrome with prominent neurologics signs' 'MEDNIK syndrome' SubClassOf 'Syndromic genetic deafness' 'MEDNIK syndrome' SubClassOf 'Disorder of copper metabolism' 'MEDNIK syndrome' SubClassOf 'Autosomal ichthyosis syndrome with prominent neurologics signs' 'MEDNIK syndrome' SubClassOf 'Syndromic genetic deafness' 'MEDNIK syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'MEDNIK syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019270 'MEDNIK syndrome' SubClassOf 'Disorder of copper metabolism' 'MEDNIK syndrome' SubClassOf 'Developmental anomaly of metabolic origin' http://www.ebi.ac.uk/efo/EFO_0001151 GM12760 'GM12760' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('organism part' and ('part_of' some 'organism')))) http://www.orpha.net/ORDO/Orphanet_228337 CLN10 disease 'CLN10 disease' SubClassOf 'Adult neuronal ceroid lipofuscinosis' 'CLN10 disease' SubClassOf 'Late infantile neuronal ceroid lipofuscinosis' 'CLN10 disease' SubClassOf 'Congenital neuronal ceroid lipofuscinosis' 'CLN10 disease' SubClassOf 'Juvenile neuronal ceroid lipofuscinosis' 'CLN10 disease' SubClassOf 'Adult neuronal ceroid lipofuscinosis' 'CLN10 disease' SubClassOf 'Late infantile neuronal ceroid lipofuscinosis' 'CLN10 disease' SubClassOf 'Congenital neuronal ceroid lipofuscinosis' 'CLN10 disease' SubClassOf 'Juvenile neuronal ceroid lipofuscinosis' http://www.ebi.ac.uk/efo/EFO_0001150 GM12751 'GM12751' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('organism part' and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_0001153 GM12762 'GM12762' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('organism part' and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_0001152 GM12761 'GM12761' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('organism part' and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_0001155 GM12812 'GM12812' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('blood' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_1000730 Ludwig's angina 'Ludwig's angina' SubClassOf 'cellulitis' 'Ludwig's angina' SubClassOf 'mouth disease' 'Ludwig's angina' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043424 'Ludwig's angina' SubClassOf 'cellulitis' http://www.ebi.ac.uk/efo/EFO_0001154 GM12763 'GM12763' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('organism part' and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_1000731 maxillary sinus cholesteatoma 'maxillary sinus cholesteatoma' SubClassOf 'cholesteatoma' 'maxillary sinus cholesteatoma' SubClassOf 'mouth disease' 'maxillary sinus cholesteatoma' SubClassOf 'paranasal sinus disease' 'maxillary sinus cholesteatoma' SubClassOf 'cholesteatoma' 'maxillary sinus cholesteatoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023369 http://www.ebi.ac.uk/efo/EFO_0001157 GM12814 'GM12814' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('organism part' and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_0001156 GM12813 'GM12813' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('blood' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0001159 GM12872 'GM12872' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('blood' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0001158 GM12815 'GM12815' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('organism part' and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_1000738 necrobiosis lipoidica 'necrobiosis lipoidica' SubClassOf 'skin disease' 'necrobiosis lipoidica' SubClassOf 'skin disease' http://www.ebi.ac.uk/efo/EFO_1000739 neonatal jaundice 'neonatal jaundice' SubClassOf 'pigmentation disease' 'neonatal jaundice' SubClassOf 'pigmentation disease' http://www.ebi.ac.uk/efo/EFO_1000736 mongolian spot 'mongolian spot' SubClassOf 'skin disease' 'mongolian spot' SubClassOf 'skin disease' http://www.ebi.ac.uk/efo/EFO_1000737 multiple symmetric lipomatosis 'multiple symmetric lipomatosis' SubClassOf 'lipomatosis' 'multiple symmetric lipomatosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019296 'multiple symmetric lipomatosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000652 'multiple symmetric lipomatosis' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'multiple symmetric lipomatosis' SubClassOf 'lipomatosis' http://www.ebi.ac.uk/efo/EFO_1000734 miliaria 'miliaria' SubClassOf 'sweat gland disease' 'miliaria' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'miliaria' SubClassOf 'sweat gland disease' http://www.ebi.ac.uk/efo/EFO_1000735 miliaria rubra 'miliaria rubra' SubClassOf 'miliaria' 'miliaria rubra' SubClassOf 'miliaria' http://www.ebi.ac.uk/efo/EFO_1000732 mediastinal lipomatosis 'mediastinal lipomatosis' SubClassOf 'lipomatosis' 'mediastinal lipomatosis' SubClassOf 'lipomatosis' http://www.ebi.ac.uk/efo/EFO_1000733 melanoacanthoma 'melanoacanthoma' SubClassOf 'seborrheic keratosis' 'melanoacanthoma' SubClassOf 'seborrheic keratosis' http://www.orpha.net/ORDO/Orphanet_156249 Larynx anomaly 'Larynx anomaly' SubClassOf 'Rare otorhinolaryngological malformation' 'Larynx anomaly' SubClassOf 'Rare otorhinolaryngological malformation' http://www.orpha.net/ORDO/Orphanet_171860 Intellectual disability - cataracts - kyphosis 'Intellectual disability - cataracts - kyphosis' SubClassOf 'Syndromic cataract' 'Intellectual disability - cataracts - kyphosis' SubClassOf 'Syndromic cataract' 'Intellectual disability - cataracts - kyphosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 http://www.ebi.ac.uk/efo/EFO_0001180 HCC38 'HCC38' SubClassOf 'bearer_of' some 'breast carcinoma' 'HCC38' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('mammary gland' and ('part_of' some 'Homo sapiens')))) http://www.orpha.net/ORDO/Orphanet_1660 Dermo-odonto dysplasia 'Dermo-odonto dysplasia' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Dermo-odonto dysplasia' SubClassOf 'Ectodermal dysplasia syndrome' 'Dermo-odonto dysplasia' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Dermo-odonto dysplasia' SubClassOf 'Ectodermal dysplasia syndrome' http://www.orpha.net/ORDO/Orphanet_1661 X-linked corneal dermoid 'X-linked corneal dermoid' SubClassOf 'Syndromic corneal dystrophy' 'X-linked corneal dermoid' SubClassOf 'Syndromic corneal dystrophy' http://www.ebi.ac.uk/efo/EFO_0001182 HEK293 'HEK293' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('kidney' and ('part_of' some 'organism')))) http://www.orpha.net/ORDO/Orphanet_2990 Autosomal recessive multiple pterygium syndrome 'Autosomal recessive multiple pterygium syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Autosomal recessive multiple pterygium syndrome' SubClassOf 'Multiple pterygium syndrome' 'Autosomal recessive multiple pterygium syndrome' SubClassOf 'autosomal recessive disease' 'Autosomal recessive multiple pterygium syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 'Autosomal recessive multiple pterygium syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Autosomal recessive multiple pterygium syndrome' SubClassOf 'Multiple pterygium syndrome' http://www.ebi.ac.uk/efo/EFO_0001181 HCC70 'HCC70' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('mammary gland' and ('part_of' some 'Homo sapiens')))) 'HCC70' SubClassOf 'bearer_of' some 'breast carcinoma' http://purl.obolibrary.org/obo/CHEBI_18153 ethene 'ethene' SubClassOf 'has_role' some 'phytohormone' http://www.ebi.ac.uk/efo/EFO_0001184 HEK293T 'HEK293T' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('kidney' and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_0001183 HEK-293H 'HEK-293H' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('kidney' and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_0001186 HepaRG 'HepaRG' SubClassOf 'bearer_of' some 'hepatocellular carcinoma' 'HepaRG' SubClassOf 'derives_from' some ('hepatocyte' and ('part_of' some ('liver' and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_0001185 HeLa 'HeLa' SubClassOf 'has_quality' some 'female' 'HeLa' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('uterine cervix' and ('part_of' some 'Homo sapiens')))) 'HeLa' SubClassOf 'bearer_of' some 'cervical carcinoma' http://www.ebi.ac.uk/efo/EFO_0001188 HMEC 'HMEC' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('mammary gland' and ('part_of' some 'Homo sapiens')))) 'HMEC' SubClassOf 'is_input_of' some 'ENCODE functional genome mapping' http://www.orpha.net/ORDO/Orphanet_313838 Coats plus syndrome 'Coats plus syndrome' SubClassOf 'Congenital vitreoretinal dysplasia' 'Coats plus syndrome' SubClassOf 'Genetic central nervous system and retinal vascular disease' 'Coats plus syndrome' SubClassOf 'Congenital vitreoretinal dysplasia' 'Coats plus syndrome' SubClassOf 'cerebral small vessel disease' http://www.ebi.ac.uk/efo/EFO_0001187 HepG2 'HepG2' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('liver' and ('part_of' some 'Homo sapiens')))) 'HepG2' SubClassOf 'bearer_of' some 'hepatocellular carcinoma' 'HepG2' SubClassOf 'is_input_of' some 'ENCODE functional genome mapping' http://www.orpha.net/ORDO/Orphanet_2999 Ptosis - strabismus - ectopic pupils 'Ptosis - strabismus - ectopic pupils' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020169 http://www.orpha.net/ORDO/Orphanet_171829 6q16 deletion syndrome '6q16 deletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 6' '6q16 deletion syndrome' SubClassOf 'Prader-Willi-like syndrome' '6q16 deletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 6' '6q16 deletion syndrome' SubClassOf 'Prader-Willi-like syndrome' http://www.ebi.ac.uk/efo/EFO_0001189 HMEC S1 'HMEC S1' SubClassOf 'bearer_of' some 'breast carcinoma' 'HMEC S1' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('mammary gland' and ('part_of' some 'Homo sapiens')))) http://www.orpha.net/ORDO/Orphanet_1667 Wolcott-Rallison syndrome 'Wolcott-Rallison syndrome' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Wolcott-Rallison syndrome' SubClassOf 'autosomal recessive disease' 'Wolcott-Rallison syndrome' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Wolcott-Rallison syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Wolcott-Rallison syndrome' SubClassOf 'Inborn errors of metabolism' 'Wolcott-Rallison syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 'Wolcott-Rallison syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015888 http://www.orpha.net/ORDO/Orphanet_2997 Ptosis - vocal cord paralysis 'Ptosis - vocal cord paralysis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020169 http://www.orpha.net/ORDO/Orphanet_2995 Baraitser-Winter syndrome 'Baraitser-Winter syndrome' SubClassOf 'Other syndrome with lissencephaly as a major feature' 'Baraitser-Winter syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Baraitser-Winter syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020169 'Baraitser-Winter syndrome' SubClassOf 'Other syndrome with lissencephaly as a major feature' 'Baraitser-Winter syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_1662 Lethal restrictive dermopathy 'Lethal restrictive dermopathy' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Lethal restrictive dermopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007 'Lethal restrictive dermopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021106 'Lethal restrictive dermopathy' SubClassOf 'Malformation syndrome with skin/mucosae involvement' http://www.orpha.net/ORDO/Orphanet_2994 Short stature - craniofacial anomalies - genital hypoplasia 'Short stature - craniofacial anomalies - genital hypoplasia' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Short stature - craniofacial anomalies - genital hypoplasia' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_300525 Pseudohypoaldosteronism type 2D 'Pseudohypoaldosteronism type 2D' SubClassOf 'Pseudohypoaldosteronism type 2' 'Pseudohypoaldosteronism type 2D' SubClassOf 'Pseudohypoaldosteronism type 2' http://www.orpha.net/ORDO/Orphanet_1671 Diastematomyelia 'Diastematomyelia' SubClassOf 'Malformation of the neurenteric canal, spinal cord and column' 'Diastematomyelia' SubClassOf 'Malformation of the neurenteric canal, spinal cord and column' http://purl.obolibrary.org/obo/CHEBI_18145 (+)-alpha-tocopherol '(+)-alpha-tocopherol' SubClassOf 'has_role' some 'antiatherogenic agent' '(+)-alpha-tocopherol' SubClassOf 'has_role' some 'anticoagulant' '(+)-alpha-tocopherol' SubClassOf 'has_role' some 'vitamin' '(+)-alpha-tocopherol' SubClassOf 'has_role' some 'antioxidant' '(+)-alpha-tocopherol' SubClassOf 'has_role' some 'protein kinase C inhibitor' '(+)-alpha-tocopherol' SubClassOf 'has_role' some 'nutraceutical' http://www.ebi.ac.uk/efo/EFO_0001171 HCC1428 'HCC1428' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('mammary gland' and ('part_of' some 'Homo sapiens')))) 'HCC1428' SubClassOf 'bearer_of' some 'breast carcinoma' http://www.ebi.ac.uk/efo/EFO_0001170 HCC1187 'HCC1187' SubClassOf 'bearer_of' some 'breast carcinoma' 'HCC1187' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('mammary gland' and ('part_of' some 'Homo sapiens')))) http://www.orpha.net/ORDO/Orphanet_1670 Chronic diarrhea with villous atrophy 'Chronic diarrhea with villous atrophy' SubClassOf 'Genetic intractable diarrhea of infancy' 'Chronic diarrhea with villous atrophy' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA' 'Chronic diarrhea with villous atrophy' SubClassOf 'Metabolic disease with intestinal involvement' 'Chronic diarrhea with villous atrophy' SubClassOf 'Genetic intractable diarrhea of infancy' 'Chronic diarrhea with villous atrophy' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA' http://purl.obolibrary.org/obo/CHEBI_45783 imatinib 'imatinib' SubClassOf ('has_role' some 'antineoplastic agent') or ('has_role' some 'tyrosine kinase inhibitor') http://www.ebi.ac.uk/efo/EFO_0001173 HCC1569 'HCC1569' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('mammary gland' and ('part_of' some 'Homo sapiens')))) 'HCC1569' SubClassOf 'bearer_of' some 'breast carcinoma' http://www.ebi.ac.uk/efo/EFO_0001172 HCC1500 'HCC1500' SubClassOf 'bearer_of' some 'breast carcinoma' 'HCC1500' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('mammary gland' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0001175 HCC1954 'HCC1954' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('mammary gland' and ('part_of' some 'Homo sapiens')))) 'HCC1954' SubClassOf 'bearer_of' some 'breast carcinoma' http://www.orpha.net/ORDO/Orphanet_171836 Amelogenesis imperfecta and gingival hyperplasia syndrome 'Amelogenesis imperfecta and gingival hyperplasia syndrome' SubClassOf 'Rare odontal or periodontal disorder' 'Amelogenesis imperfecta and gingival hyperplasia syndrome' SubClassOf 'Rare odontal or periodontal disorder' 'Amelogenesis imperfecta and gingival hyperplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018488 http://www.ebi.ac.uk/efo/EFO_0001174 HCC1937 'HCC1937' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('mammary gland' and ('part_of' some 'Homo sapiens')))) 'HCC1937' SubClassOf 'bearer_of' some 'breast carcinoma' http://purl.obolibrary.org/obo/HP_0002904 Hyperbilirubinemia 'Hyperbilirubinemia' SubClassOf 'Abnormality of nitrogen compound homeostasis' 'Hyperbilirubinemia' SubClassOf 'Abnormality of nitrogen compound homeostasis' http://www.ebi.ac.uk/efo/EFO_0001177 HCC2157 'HCC2157' SubClassOf 'bearer_of' some 'breast carcinoma' 'HCC2157' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('mammary gland' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0001176 HCC202 'HCC202' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('mammary gland' and ('part_of' some 'Homo sapiens')))) 'HCC202' SubClassOf 'bearer_of' some 'breast carcinoma' http://purl.obolibrary.org/obo/CHEBI_116314 oleamide 'oleamide' SubClassOf 'lipid' 'oleamide' SubClassOf 'lipid' http://www.ebi.ac.uk/efo/EFO_0001179 HCC3153 'HCC3153' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('mammary gland' and ('part_of' some 'Homo sapiens')))) 'HCC3153' SubClassOf 'bearer_of' some 'breast carcinoma' http://www.orpha.net/ORDO/Orphanet_1677 Familial idiopathic dilatation of the right atrium 'Familial idiopathic dilatation of the right atrium' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018797 'Familial idiopathic dilatation of the right atrium' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020294 'Familial idiopathic dilatation of the right atrium' SubClassOf 'has_disease_location' some 'right atrium' http://www.ebi.ac.uk/efo/EFO_0001178 HCC2185 'HCC2185' SubClassOf 'bearer_of' some 'breast carcinoma' 'HCC2185' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('mammary gland' and ('part_of' some 'Homo sapiens')))) http://www.orpha.net/ORDO/Orphanet_171839 Craniosynostosis - hydrocephalus - Arnold-Chiari malformation type I - radioulnar synostosis 'Craniosynostosis - hydrocephalus - Arnold-Chiari malformation type I - radioulnar synostosis' SubClassOf 'Syndromic craniosynostosis' 'Craniosynostosis - hydrocephalus - Arnold-Chiari malformation type I - radioulnar synostosis' SubClassOf 'Syndromic craniosynostosis' 'Craniosynostosis - hydrocephalus - Arnold-Chiari malformation type I - radioulnar synostosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017120 http://www.orpha.net/ORDO/Orphanet_313846 Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome 'Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome' SubClassOf 'Inherited cancer-predisposing syndrome' 'Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 'Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019293 'Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome' SubClassOf 'Inherited cancer-predisposing syndrome' http://purl.obolibrary.org/obo/HP_0002900 hypokalemia 'hypokalemia' EquivalentTo 'has part' some ('decreased concentration' and ('inheres_in' some ('potassium' and ('part_of' some 'blood'))) and ('has component' some 'abnormal')) http://www.orpha.net/ORDO/Orphanet_1675 Dihydropyrimidine dehydrogenase deficiency 'Dihydropyrimidine dehydrogenase deficiency' SubClassOf 'Disorder of pyrimidine metabolism' 'Dihydropyrimidine dehydrogenase deficiency' SubClassOf 'Osteochondrosis of genetic origin' 'Dihydropyrimidine dehydrogenase deficiency' SubClassOf 'Disorder of pyrimidine metabolism' http://purl.obolibrary.org/obo/HP_0002901 Hypocalcemia 'Hypocalcemia' EquivalentTo 'has part' some ('decreased concentration' and ('inheres_in' some 'blood') and ('towards' some 'calcium')) http://www.orpha.net/ORDO/Orphanet_300530 Pseudohypoaldosteronism type 2E 'Pseudohypoaldosteronism type 2E' SubClassOf 'Pseudohypoaldosteronism type 2' 'Pseudohypoaldosteronism type 2E' SubClassOf 'Pseudohypoaldosteronism type 2' http://www.orpha.net/ORDO/Orphanet_300536 DDOST-CDG 'DDOST-CDG' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 'DDOST-CDG' SubClassOf 'Disorder of protein N-glycosylation' 'DDOST-CDG' SubClassOf 'Congenital disorder of glycosylation with hepatic involvement' 'DDOST-CDG' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 'DDOST-CDG' SubClassOf 'Disorder of protein N-glycosylation' 'DDOST-CDG' SubClassOf 'Congenital disorder of glycosylation with hepatic involvement' 'DDOST-CDG' SubClassOf 'congenital disorder of glycosylation type I' http://purl.obolibrary.org/obo/HANCESTRO_0014 Hispanic or Latin American 'Hispanic or Latin American' SubClassOf 'hasAncestryStatus' some 'admixed ancestry' http://purl.obolibrary.org/obo/HANCESTRO_0016 African American or Afro-Caribbean 'African American or Afro-Caribbean' SubClassOf 'hasAncestryStatus' some 'admixed ancestry' http://purl.obolibrary.org/obo/HANCESTRO_0019 Japanese 'Japanese' SubClassOf 'isDemonymOf' some 'Japan' http://www.orpha.net/ORDO/Orphanet_313808 Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia 'Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia' SubClassOf 'Leukodystrophy' 'Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia' SubClassOf 'Leukodystrophy' http://www.orpha.net/ORDO/Orphanet_156215 Oromandibular-limb anomalies syndrome 'Oromandibular-limb anomalies syndrome' SubClassOf 'Hypoglossia/aglossia' 'Oromandibular-limb anomalies syndrome' SubClassOf 'Hypoglossia/aglossia' http://www.orpha.net/ORDO/Orphanet_156212 Hypoglossia/aglossia 'Hypoglossia/aglossia' SubClassOf 'Genetic head and neck malformation' 'Hypoglossia/aglossia' SubClassOf 'Genetic head and neck malformation' 'Hypoglossia/aglossia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019038 'Hypoglossia/aglossia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015475 http://www.ebi.ac.uk/efo/EFO_0001191 HMT3522S1 'HMT3522S1' SubClassOf 'bearer_of' some 'breast carcinoma' 'HMT3522S1' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0001190 HMEC184 'HMEC184' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('mammary gland' and ('part_of' some 'Homo sapiens')))) 'HMEC184' SubClassOf 'bearer_of' some 'breast carcinoma' http://www.ebi.ac.uk/efo/EFO_0001193 HT-29 'HT-29' SubClassOf 'cancer cell line' 'HT-29' SubClassOf 'colorectal cancer cell line' 'HT-29' SubClassOf 'bearer_of' some 'colorectal adenocarcinoma' 'HT-29' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('colon' and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_0001192 HS578T 'HS578T' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('mammary gland' and ('part_of' some 'Homo sapiens')))) 'HS578T' SubClassOf 'bearer_of' some 'breast carcinoma' http://www.orpha.net/ORDO/Orphanet_1692 Mosaic trisomy 1 'Mosaic trisomy 1' SubClassOf 'Total autosomal trisomy' 'Mosaic trisomy 1' SubClassOf 'Total autosomal trisomy' http://www.ebi.ac.uk/efo/EFO_0001195 IMR-32 'IMR-32' SubClassOf 'derives_from' some ('neuroblast (sensu Vertebrata)' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'IMR-32' SubClassOf 'bearer_of' some 'neuroblastoma' http://www.ebi.ac.uk/efo/EFO_0001194 IB3-1 'IB3-1' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('bronchus' and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_0001197 Kin-S49 'Kin-S49' SubClassOf 'bearer_of' some 'lymphoma' 'Kin-S49' SubClassOf 'derives_from' some ('T cell' and ('part_of' some ('organism part' and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_0001196 IMR-90 'IMR-90' SubClassOf 'derives_from' some ('fibroblast' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0001199 LY2 'LY2' SubClassOf 'bearer_of' some 'breast carcinoma' 'LY2' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('mammary gland' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0001198 L3055 'L3055' SubClassOf 'bearer_of' some 'Burkitts lymphoma' 'L3055' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'organism')))) http://purl.obolibrary.org/obo/HANCESTRO_0022 Korean 'Korean' SubClassOf 'isDemonymOf' some 'South Korea' http://www.orpha.net/ORDO/Orphanet_1699 Trisomy 12p 'Trisomy 12p' SubClassOf 'Partial trisomy/tetrasomy of the short arm of chromosome 12' 'Trisomy 12p' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015652 'Trisomy 12p' SubClassOf 'Partial trisomy/tetrasomy of the short arm of chromosome 12' http://purl.obolibrary.org/obo/HANCESTRO_0021 Chinese 'Chinese' SubClassOf 'isDemonymOf' some 'China' http://www.orpha.net/ORDO/Orphanet_1698 Mosaic trisomy 12 'Mosaic trisomy 12' SubClassOf 'Total autosomal trisomy' 'Mosaic trisomy 12' SubClassOf 'Total autosomal trisomy' http://www.orpha.net/ORDO/Orphanet_1695 Non-distal trisomy 10q 'Non-distal trisomy 10q' SubClassOf 'Partial duplication of the long arm of chromosome 10' 'Non-distal trisomy 10q' SubClassOf 'Partial duplication of the long arm of chromosome 10' 'Non-distal trisomy 10q' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020226 http://www.orpha.net/ORDO/Orphanet_156207 Macroglossia 'Macroglossia' SubClassOf 'Genetic head and neck malformation' 'Macroglossia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019038 'Macroglossia' SubClassOf 'Genetic head and neck malformation' 'Macroglossia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015475 http://www.orpha.net/ORDO/Orphanet_156202 Otomandibular dysplasia associated with monogenic syndromes 'Otomandibular dysplasia associated with monogenic syndromes' SubClassOf 'Otomandibular dysplasia' 'Otomandibular dysplasia associated with monogenic syndromes' SubClassOf 'Otomandibular dysplasia' http://www.orpha.net/ORDO/Orphanet_701 Alopecia universalis 'Alopecia universalis' SubClassOf 'Alopecia' 'Alopecia universalis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000005 'Alopecia universalis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021034 'Alopecia universalis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0007806 http://www.orpha.net/ORDO/Orphanet_700 Alopecia totalis 'Alopecia totalis' SubClassOf 'Alopecia' 'Alopecia totalis' SubClassOf 'Alopecia' 'Alopecia totalis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021034 http://www.orpha.net/ORDO/Orphanet_71859 Rare genetic neurological disorder 'Rare genetic neurological disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003847 'Rare genetic neurological disorder' EquivalentTo 'nervous system disease' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) 'Rare genetic neurological disorder' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Rare genetic neurological disorder' SubClassOf 'nervous system disease' http://www.orpha.net/ORDO/Orphanet_2956 Prata-Liberal-Goncalves syndrome 'Prata-Liberal-Goncalves syndrome' SubClassOf 'Syndrome with brachydactyly' 'Prata-Liberal-Goncalves syndrome' SubClassOf 'Syndrome with brachydactyly' http://www.orpha.net/ORDO/Orphanet_2953 Ehlers-Danlos syndrome, musculocontractural type 'Ehlers-Danlos syndrome, musculocontractural type' SubClassOf 'Congenital disorder of glycosylation with cardiac malformation as a major feature' 'Ehlers-Danlos syndrome, musculocontractural type' SubClassOf 'Congenital disorder of glycosylation with nephropathy as a major feature' 'Ehlers-Danlos syndrome, musculocontractural type' SubClassOf 'Distal arthrogryposis' 'Ehlers-Danlos syndrome, musculocontractural type' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 'Ehlers-Danlos syndrome, musculocontractural type' SubClassOf 'Congenital disorder of glycosylation with skin involvement' 'Ehlers-Danlos syndrome, musculocontractural type' SubClassOf 'Disorder of O-xylosylglycan synthesis' 'Ehlers-Danlos syndrome, musculocontractural type' SubClassOf 'Ehlers-Danlos syndrome' 'Ehlers-Danlos syndrome, musculocontractural type' SubClassOf 'Congenital disorder of glycosylation with cardiac malformation as a major feature' 'Ehlers-Danlos syndrome, musculocontractural type' SubClassOf 'Congenital disorder of glycosylation with nephropathy as a major feature' 'Ehlers-Danlos syndrome, musculocontractural type' SubClassOf 'Distal arthrogryposis' 'Ehlers-Danlos syndrome, musculocontractural type' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 'Ehlers-Danlos syndrome, musculocontractural type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Ehlers-Danlos syndrome, musculocontractural type' SubClassOf 'Congenital disorder of glycosylation with skin involvement' 'Ehlers-Danlos syndrome, musculocontractural type' SubClassOf 'Disorder of O-xylosylglycan synthesis' 'Ehlers-Danlos syndrome, musculocontractural type' SubClassOf 'Ehlers-Danlos syndrome' http://www.orpha.net/ORDO/Orphanet_2952 Adducted thumbs - arthrogryposis, Christian type 'Adducted thumbs - arthrogryposis, Christian type' SubClassOf 'Syndrome or malformation associated with head and neck malformations' 'Adducted thumbs - arthrogryposis, Christian type' SubClassOf 'Arthrogryposis multiplex congenita' 'Adducted thumbs - arthrogryposis, Christian type' SubClassOf 'Syndrome or malformation associated with head and neck malformations' 'Adducted thumbs - arthrogryposis, Christian type' SubClassOf 'Arthrogryposis multiplex congenita' http://www.orpha.net/ORDO/Orphanet_2951 Absent thumb - short stature - immunodeficiency 'Absent thumb - short stature - immunodeficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018035 http://www.orpha.net/ORDO/Orphanet_2950 Triphalangeal thumb - polysyndactyly syndrome 'Triphalangeal thumb - polysyndactyly syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Triphalangeal thumb - polysyndactyly syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Triphalangeal thumb - polysyndactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Polydactyly of a triphalangeal thumb' http://www.orpha.net/ORDO/Orphanet_1617 2q24 microdeletion syndrome '2q24 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 2' '2q24 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020226 '2q24 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 2' http://www.orpha.net/ORDO/Orphanet_2947 Triphalangeal thumbs - brachyectrodactyly 'Triphalangeal thumbs - brachyectrodactyly' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Triphalangeal thumbs - brachyectrodactyly' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' http://www.orpha.net/ORDO/Orphanet_2946 Brachydactyly - long thumb 'Brachydactyly - long thumb' SubClassOf 'Syndrome with brachydactyly' 'Brachydactyly - long thumb' SubClassOf 'Heart-hand syndrome' 'Brachydactyly - long thumb' SubClassOf 'Genetic cardiac rhythm disease' 'Brachydactyly - long thumb' SubClassOf 'Syndrome with brachydactyly' 'Brachydactyly - long thumb' SubClassOf 'Heart-hand syndrome' 'Brachydactyly - long thumb' SubClassOf 'Genetic cardiac rhythm disease' http://purl.obolibrary.org/obo/CHEBI_18102 O-octanoyl-L-carnitine 'O-octanoyl-L-carnitine' SubClassOf 'lipid' 'O-octanoyl-L-carnitine' SubClassOf 'lipid' http://www.orpha.net/ORDO/Orphanet_712 Hemolytic anemia due to glucophosphate isomerase deficiency 'Hemolytic anemia due to glucophosphate isomerase deficiency' SubClassOf 'Hemolytic anemia due to a disorder of glycolytic enzymes' 'Hemolytic anemia due to glucophosphate isomerase deficiency' SubClassOf 'Disorder of glycolysis' 'Hemolytic anemia due to glucophosphate isomerase deficiency' SubClassOf 'congenital nonspherocytic hemolytic anemia' 'Hemolytic anemia due to glucophosphate isomerase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003689 'Hemolytic anemia due to glucophosphate isomerase deficiency' SubClassOf 'Hemolytic anemia due to a disorder of glycolytic enzymes' 'Hemolytic anemia due to glucophosphate isomerase deficiency' SubClassOf 'Disorder of glycolysis' http://www.orpha.net/ORDO/Orphanet_710 Pfeiffer syndrome 'Pfeiffer syndrome' SubClassOf 'Craniostenosis associated with a strabismus' 'Pfeiffer syndrome' SubClassOf 'Acrocephalosyndactyly' 'Pfeiffer syndrome' SubClassOf 'Rare genetic neurological disorder' 'Pfeiffer syndrome' SubClassOf 'Craniostenosis associated with a strabismus' 'Pfeiffer syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Pfeiffer syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000078 http://www.orpha.net/ORDO/Orphanet_33572 5-oxoprolinase deficiency '5-oxoprolinase deficiency' SubClassOf 'Disorder of the gamma-glutamyl cycle' '5-oxoprolinase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044976 '5-oxoprolinase deficiency' SubClassOf 'Disorder of the gamma-glutamyl cycle' http://www.orpha.net/ORDO/Orphanet_1636 Distal monosomy 7q36 'Distal monosomy 7q36' SubClassOf 'Partial deletion of the long arm of chromosome 7' 'Distal monosomy 7q36' SubClassOf 'Partial deletion of the long arm of chromosome 7' http://www.orpha.net/ORDO/Orphanet_2966 Properdin deficiency 'Properdin deficiency' SubClassOf 'Immunodeficiency due to a complement cascade protein anomaly' 'Properdin deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018727 http://www.orpha.net/ORDO/Orphanet_289290 Hypermethioninemia encephalopathy due to adenosine kinase deficiency 'Hypermethioninemia encephalopathy due to adenosine kinase deficiency' SubClassOf 'Disorder of methionine cycle and sulfur amino acid metabolism' 'Hypermethioninemia encephalopathy due to adenosine kinase deficiency' SubClassOf 'Neurometabolic disease' 'Hypermethioninemia encephalopathy due to adenosine kinase deficiency' SubClassOf 'Cerebral organic aciduria' 'Hypermethioninemia encephalopathy due to adenosine kinase deficiency' SubClassOf 'Neurometabolic disease' 'Hypermethioninemia encephalopathy due to adenosine kinase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000351 http://www.orpha.net/ORDO/Orphanet_33573 Gamma-glutamyl transpeptidase deficiency 'Gamma-glutamyl transpeptidase deficiency' SubClassOf 'Disorder of the gamma-glutamyl cycle' 'Gamma-glutamyl transpeptidase deficiency' SubClassOf 'Disorder of the gamma-glutamyl cycle' 'Gamma-glutamyl transpeptidase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044976 http://www.orpha.net/ORDO/Orphanet_2964 Autosomal dominant prognathism 'Autosomal dominant prognathism' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Autosomal dominant prognathism' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_33574 Gamma-glutamylcysteine synthetase deficiency 'Gamma-glutamylcysteine synthetase deficiency' SubClassOf 'Disorder of the gamma-glutamyl cycle' 'Gamma-glutamylcysteine synthetase deficiency' SubClassOf 'Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies' 'Gamma-glutamylcysteine synthetase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003689 'Gamma-glutamylcysteine synthetase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0040566 'Gamma-glutamylcysteine synthetase deficiency' SubClassOf 'Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies' http://www.orpha.net/ORDO/Orphanet_2963 Progeroid syndrome, Petty type 'Progeroid syndrome, Petty type' SubClassOf 'Premature aging' 'Progeroid syndrome, Petty type' SubClassOf 'Premature aging' 'Progeroid syndrome, Petty type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015333 http://www.orpha.net/ORDO/Orphanet_2962 De Barsy syndrome 'De Barsy syndrome' SubClassOf 'Cataract associated with a metabolic disease' 'De Barsy syndrome' SubClassOf 'Syndromic corneal dystrophy' 'De Barsy syndrome' SubClassOf 'Disorder of proline metabolism' 'De Barsy syndrome' SubClassOf 'Neurometabolic disease' 'De Barsy syndrome' SubClassOf 'Rare hereditary metabolic disease with peripheral neuropathy' 'De Barsy syndrome' SubClassOf 'Metabolic disease with cataract' 'De Barsy syndrome' SubClassOf 'Premature aging' 'De Barsy syndrome' SubClassOf 'Cutis laxa' 'De Barsy syndrome' SubClassOf 'Cataract associated with a metabolic disease' 'De Barsy syndrome' SubClassOf 'Syndromic corneal dystrophy' 'De Barsy syndrome' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'De Barsy syndrome' SubClassOf 'Disorder of proline metabolism' 'De Barsy syndrome' SubClassOf 'Neurometabolic disease' 'De Barsy syndrome' SubClassOf 'Cerebral organic aciduria' 'De Barsy syndrome' SubClassOf 'Developmental anomaly of metabolic origin' 'De Barsy syndrome' SubClassOf 'Rare hereditary metabolic disease with peripheral neuropathy' 'De Barsy syndrome' SubClassOf 'Metabolic disease with cataract' 'De Barsy syndrome' SubClassOf 'Premature aging' 'De Barsy syndrome' SubClassOf 'Cutis laxa' http://www.orpha.net/ORDO/Orphanet_313800 Optic nerve edema-splenomegaly syndrome 'Optic nerve edema-splenomegaly syndrome' SubClassOf 'Optic neuropathy' 'Optic nerve edema-splenomegaly syndrome' SubClassOf 'Optic neuropathy' http://www.orpha.net/ORDO/Orphanet_2959 Progéria - short stature - pigmented nevi 'Progéria - short stature - pigmented nevi' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Progéria - short stature - pigmented nevi' SubClassOf 'Premature aging' 'Progéria - short stature - pigmented nevi' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Progéria - short stature - pigmented nevi' SubClassOf 'Premature aging' 'Progéria - short stature - pigmented nevi' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015333 http://www.orpha.net/ORDO/Orphanet_2958 X-linked intellectual disability - dysmorphism - cerebral atrophy 'X-linked intellectual disability - dysmorphism - cerebral atrophy' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability - dysmorphism - cerebral atrophy' SubClassOf 'X-linked syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_2957 Guttmacher syndrome 'Guttmacher syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Guttmacher syndrome' SubClassOf 'Syndromic urogenital tract malformation' 'Guttmacher syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Guttmacher syndrome' SubClassOf 'Syndromic urogenital tract malformation' http://www.orpha.net/ORDO/Orphanet_709 Peters plus syndrome 'Peters plus syndrome' SubClassOf 'Rare disease with glaucoma as a major feature' 'Peters plus syndrome' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'Peters plus syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Peters plus syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Peters plus syndrome' SubClassOf 'Disorder of fucoglycosan synthesis' 'Peters plus syndrome' SubClassOf 'Congenital disorder of glycosylation with cardiac malformation as a major feature' 'Peters plus syndrome' SubClassOf 'Rare disease with glaucoma as a major feature' 'Peters plus syndrome' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'Peters plus syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Peters plus syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Peters plus syndrome' SubClassOf 'Disorder of fucoglycosan synthesis' 'Peters plus syndrome' SubClassOf 'Congenital disorder of glycosylation with cardiac malformation as a major feature' http://www.orpha.net/ORDO/Orphanet_708 Peters anomaly 'Peters anomaly' SubClassOf 'Rare eye disease due to a differentiation anomaly' 'Peters anomaly' SubClassOf 'Corneoiridogoniodysgenesis' 'Peters anomaly' SubClassOf 'Non-syndromic developmental defect of the eye' 'Peters anomaly' SubClassOf 'Familial ocular anterior segment mesenchymal dysgenesis' 'Peters anomaly' SubClassOf 'corneal disease' 'Peters anomaly' SubClassOf 'Corneoiridogoniodysgenesis' http://www.orpha.net/ORDO/Orphanet_705 Pendred syndrome 'Pendred syndrome' SubClassOf 'Syndromic genetic deafness' 'Pendred syndrome' SubClassOf 'Syndromic hypothyroidism' 'Pendred syndrome' SubClassOf 'autosomal recessive disease' 'Pendred syndrome' SubClassOf 'Syndromic genetic deafness' 'Pendred syndrome' SubClassOf 'Syndromic hypothyroidism' http://www.orpha.net/ORDO/Orphanet_702 Pelizaeus-Merzbacher disease 'Pelizaeus-Merzbacher disease' SubClassOf 'X-linked syndromic intellectual disability' 'Pelizaeus-Merzbacher disease' SubClassOf 'Leukodystrophy' 'Pelizaeus-Merzbacher disease' SubClassOf 'Abnormal eye movements' 'Pelizaeus-Merzbacher disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004884 'Pelizaeus-Merzbacher disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018609 'Pelizaeus-Merzbacher disease' SubClassOf 'X-linked syndromic intellectual disability' 'Pelizaeus-Merzbacher disease' SubClassOf 'Leukodystrophy' 'Pelizaeus-Merzbacher disease' SubClassOf 'Abnormal eye movements' http://www.orpha.net/ORDO/Orphanet_2970 Prune belly syndrome 'Prune belly syndrome' SubClassOf 'Syndromic urogenital tract malformation' 'Prune belly syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015619 'Prune belly syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Prune belly syndrome' SubClassOf 'Syndromic urogenital tract malformation' 'Prune belly syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018559 http://www.orpha.net/ORDO/Orphanet_722 Hypoplasminogenemia 'Hypoplasminogenemia' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'Hypoplasminogenemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002242 'Hypoplasminogenemia' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'Hypoplasminogenemia' SubClassOf 'Rare genetic coagulation disorder' 'Hypoplasminogenemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015938 http://www.orpha.net/ORDO/Orphanet_721 Gray platelet syndrome 'Gray platelet syndrome' SubClassOf 'Alpha granule disease' 'Gray platelet syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Gray platelet syndrome' SubClassOf 'Alpha granule disease' http://www.orpha.net/ORDO/Orphanet_206953 Muscular lipidosis 'Muscular lipidosis' SubClassOf 'Metabolic myopathy' 'Muscular lipidosis' SubClassOf 'Metabolic myopathy' http://www.orpha.net/ORDO/Orphanet_720 Pili bifurcati 'Pili bifurcati' SubClassOf 'Isolated hair shaft abnormality' 'Pili bifurcati' SubClassOf 'Isolated hair shaft abnormality' http://purl.obolibrary.org/obo/NCBITaxon_6656 Arthropoda 'Arthropoda' SubClassOf 'Metazoa' 'Arthropoda' SubClassOf 'Metazoa' http://www.orpha.net/ORDO/Orphanet_2978 Chronic intestinal pseudoobstruction 'Chronic intestinal pseudoobstruction' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Chronic intestinal pseudoobstruction' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004567 'Chronic intestinal pseudoobstruction' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021189 http://www.orpha.net/ORDO/Orphanet_1646 Partial chromosome Y deletion 'Partial chromosome Y deletion' SubClassOf 'Male infertility with spermatogenesis disorder' 'Partial chromosome Y deletion' SubClassOf 'Chromosome Y structural anomaly' 'Partial chromosome Y deletion' SubClassOf 'Male infertility with spermatogenesis disorder' 'Partial chromosome Y deletion' SubClassOf 'Chromosome Y structural anomaly' http://www.orpha.net/ORDO/Orphanet_1647 Oculocerebrocutaneous syndrome 'Oculocerebrocutaneous syndrome' SubClassOf 'Epilepsy syndrome' 'Oculocerebrocutaneous syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Oculocerebrocutaneous syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017120 'Oculocerebrocutaneous syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Oculocerebrocutaneous syndrome' SubClassOf 'Epilepsy syndrome' http://www.orpha.net/ORDO/Orphanet_206959 Muscular glycogenosis 'Muscular glycogenosis' SubClassOf 'Metabolic myopathy' 'Muscular glycogenosis' SubClassOf 'Metabolic myopathy' http://www.orpha.net/ORDO/Orphanet_2976 Pseudoleprechaunism syndrome, Patterson type 'Pseudoleprechaunism syndrome, Patterson type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017820 'Pseudoleprechaunism syndrome, Patterson type' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://www.orpha.net/ORDO/Orphanet_2975 46,XX disorder of sex development - skeletal anomalies '46,XX disorder of sex development - skeletal anomalies' SubClassOf 'Syndrome with disorder of sex development of gynecological interest' '46,XX disorder of sex development - skeletal anomalies' SubClassOf 'Syndrome with 46,XX disorder of sex development' '46,XX disorder of sex development - skeletal anomalies' SubClassOf 'Syndrome with disorder of sex development of gynecological interest' '46,XX disorder of sex development - skeletal anomalies' SubClassOf 'Syndrome with 46,XX disorder of sex development' http://www.orpha.net/ORDO/Orphanet_1642 Distal monosomy 9p 'Distal monosomy 9p' SubClassOf 'Syndrome with disorder of sex development of gynecological interest' 'Distal monosomy 9p' SubClassOf 'Syndrome with 46,XY disorder of sex development' 'Distal monosomy 9p' SubClassOf 'Partial deletion of the short arm of chromosome 9' 'Distal monosomy 9p' SubClassOf 'Syndrome with disorder of sex development of gynecological interest' 'Distal monosomy 9p' SubClassOf 'Syndrome with 46,XY disorder of sex development' 'Distal monosomy 9p' SubClassOf 'Partial deletion of the short arm of chromosome 9' http://www.orpha.net/ORDO/Orphanet_1643 Xp22.3 microdeletion syndrome 'Xp22.3 microdeletion syndrome' SubClassOf 'Partial monosomy of the short arm of chromosome X' 'Xp22.3 microdeletion syndrome' SubClassOf 'Partial monosomy of the short arm of chromosome X' http://www.orpha.net/ORDO/Orphanet_2973 46,XX disorder of sex development - anorectal anomalies '46,XX disorder of sex development - anorectal anomalies' SubClassOf 'Syndrome with 46,XX disorder of sex development' '46,XX disorder of sex development - anorectal anomalies' SubClassOf 'Syndromic anorectal malformation' '46,XX disorder of sex development - anorectal anomalies' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015846 '46,XX disorder of sex development - anorectal anomalies' SubClassOf 'Syndrome with 46,XX disorder of sex development' '46,XX disorder of sex development - anorectal anomalies' SubClassOf 'Syndromic anorectal malformation' http://www.orpha.net/ORDO/Orphanet_2972 Non-eruption of teeth - maxillary hypoplasia - genu valgum 'Non-eruption of teeth - maxillary hypoplasia - genu valgum' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Non-eruption of teeth - maxillary hypoplasia - genu valgum' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' http://www.orpha.net/ORDO/Orphanet_2971 Peroxisomal acyl-CoA oxidase deficiency 'Peroxisomal acyl-CoA oxidase deficiency' SubClassOf 'Peroxisomal beta-oxidation disorder' 'Peroxisomal acyl-CoA oxidase deficiency' SubClassOf 'Peroxisomal beta-oxidation disorder' 'Peroxisomal acyl-CoA oxidase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016398 http://www.orpha.net/ORDO/Orphanet_217610 Neuromuscular disease with dilated cardiomyopathy 'Neuromuscular disease with dilated cardiomyopathy' SubClassOf 'Familial dilated cardiomyopathy' 'Neuromuscular disease with dilated cardiomyopathy' SubClassOf 'Familial dilated cardiomyopathy' 'Neuromuscular disease with dilated cardiomyopathy' SubClassOf 'Genetic peripheral neuropathy' 'Neuromuscular disease with dilated cardiomyopathy' SubClassOf 'neuromuscular disease' http://www.orpha.net/ORDO/Orphanet_217613 Mitochondrial disease with dilated cardiomyopathy 'Mitochondrial disease with dilated cardiomyopathy' SubClassOf 'Familial dilated cardiomyopathy' 'Mitochondrial disease with dilated cardiomyopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004069 'Mitochondrial disease with dilated cardiomyopathy' SubClassOf 'Familial dilated cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_2969 Proteus-like syndrome 'Proteus-like syndrome' SubClassOf 'Genetic skin tumor' 'Proteus-like syndrome' SubClassOf 'Genetic skin tumor' 'Proteus-like syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'Proteus syndrome' http://www.orpha.net/ORDO/Orphanet_2968 Leukocyte adhesion deficiency 'Leukocyte adhesion deficiency' SubClassOf 'Functional neutrophil defect' 'Leukocyte adhesion deficiency' SubClassOf 'autosomal recessive disease' 'Leukocyte adhesion deficiency' SubClassOf 'Functional neutrophil defect' http://www.orpha.net/ORDO/Orphanet_217619 Syndrome associated with dilated cardiomyopathy 'Syndrome associated with dilated cardiomyopathy' SubClassOf 'Familial dilated cardiomyopathy' 'Syndrome associated with dilated cardiomyopathy' SubClassOf 'Familial dilated cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_716 Phenylketonuria 'Phenylketonuria' SubClassOf 'Disorder of phenylalanine metabolism' 'Phenylketonuria' SubClassOf 'Neurometabolic disease' 'Phenylketonuria' SubClassOf 'Disorder of phenylalanine metabolism' 'Phenylketonuria' SubClassOf 'Monogenic disease with epilepsy' 'Phenylketonuria' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016399 'Phenylketonuria' SubClassOf 'Neurometabolic disease' 'Phenylketonuria' SubClassOf 'autosomal recessive disease' 'Phenylketonuria' SubClassOf 'Cerebral organic aciduria' http://www.orpha.net/ORDO/Orphanet_217616 Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy 'Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy' SubClassOf 'Familial dilated cardiomyopathy' 'Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy' SubClassOf 'Familial dilated cardiomyopathy' 'Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017713 http://www.orpha.net/ORDO/Orphanet_714 Hemolytic anemia due to diphosphoglycerate mutase deficiency 'Hemolytic anemia due to diphosphoglycerate mutase deficiency' SubClassOf 'Other metabolic disease' 'Hemolytic anemia due to diphosphoglycerate mutase deficiency' SubClassOf 'Hemolytic anemia due to a disorder of glycolytic enzymes' 'Hemolytic anemia due to diphosphoglycerate mutase deficiency' SubClassOf 'Other metabolic disease' 'Hemolytic anemia due to diphosphoglycerate mutase deficiency' SubClassOf 'Disorder of glycolysis' 'Hemolytic anemia due to diphosphoglycerate mutase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003689 'Hemolytic anemia due to diphosphoglycerate mutase deficiency' SubClassOf 'Hemolytic anemia due to a disorder of glycolytic enzymes' http://www.orpha.net/ORDO/Orphanet_713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency 'Glycogen storage disease due to phosphoglycerate kinase 1 deficiency' SubClassOf 'Muscular glycogenosis' 'Glycogen storage disease due to phosphoglycerate kinase 1 deficiency' SubClassOf 'Glycogen storage disease' 'Glycogen storage disease due to phosphoglycerate kinase 1 deficiency' SubClassOf 'Hemolytic anemia due to a disorder of glycolytic enzymes' 'Glycogen storage disease due to phosphoglycerate kinase 1 deficiency' SubClassOf 'Syndromic neurometabolic disease with X-linked intellectual disability' 'Glycogen storage disease due to phosphoglycerate kinase 1 deficiency' SubClassOf 'Muscular glycogenosis' 'Glycogen storage disease due to phosphoglycerate kinase 1 deficiency' SubClassOf 'Disorder of glycolysis' 'Glycogen storage disease due to phosphoglycerate kinase 1 deficiency' SubClassOf 'Glycogen storage disease' 'Glycogen storage disease due to phosphoglycerate kinase 1 deficiency' SubClassOf 'Hemolytic anemia due to a disorder of glycolytic enzymes' 'Glycogen storage disease due to phosphoglycerate kinase 1 deficiency' SubClassOf 'Syndromic neurometabolic disease with X-linked intellectual disability' 'Glycogen storage disease due to phosphoglycerate kinase 1 deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003689 'Glycogen storage disease due to phosphoglycerate kinase 1 deficiency' SubClassOf 'Cerebral organic aciduria' http://purl.obolibrary.org/obo/CHEBI_18123 N-methylnicotinate 'N-methylnicotinate' SubClassOf 'chemical entity' 'N-methylnicotinate' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_733 Familial adenomatous polyposis 'Familial adenomatous polyposis' SubClassOf 'Genetic digestive tract tumor' 'Familial adenomatous polyposis' SubClassOf 'Genetic intestinal polyposis' 'Familial adenomatous polyposis' SubClassOf 'Inherited cancer-predisposing syndrome' 'Familial adenomatous polyposis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021057 http://www.orpha.net/ORDO/Orphanet_2980 Acro-oto-ocular syndrome 'Acro-oto-ocular syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Acro-oto-ocular syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Acro-oto-ocular syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020169 http://www.orpha.net/ORDO/Orphanet_731 Autosomal recessive polycystic kidney disease 'Autosomal recessive polycystic kidney disease' SubClassOf 'Familial cystic renal disease' 'Autosomal recessive polycystic kidney disease' SubClassOf 'Rare genetic disorder with obstructive azoospermia' 'Autosomal recessive polycystic kidney disease' SubClassOf 'autosomal recessive disease' 'Autosomal recessive polycystic kidney disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020642 'Autosomal recessive polycystic kidney disease' SubClassOf 'has_disease_location' some 'kidney' 'Autosomal recessive polycystic kidney disease' SubClassOf 'Familial cystic renal disease' 'Autosomal recessive polycystic kidney disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018396 'Autosomal recessive polycystic kidney disease' SubClassOf 'Rare genetic disorder with obstructive azoospermia' 'Autosomal recessive polycystic kidney disease' SubClassOf 'has_disease_location' some 'cilium' http://www.orpha.net/ORDO/Orphanet_1657 Dermatoosteolysis, Kirghizian type 'Dermatoosteolysis, Kirghizian type' SubClassOf 'Ectodermal dysplasia syndrome' 'Dermatoosteolysis, Kirghizian type' SubClassOf 'Ectodermal dysplasia syndrome' http://www.orpha.net/ORDO/Orphanet_2989 Pterygium of the conjunctiva, familial form 'Pterygium of the conjunctiva, familial form' SubClassOf 'Conjunctival tumor' 'Pterygium of the conjunctiva, familial form' SubClassOf 'Conjunctival tumor' http://www.orpha.net/ORDO/Orphanet_1658 Absence of fingerprints - congenital milia 'Absence of fingerprints - congenital milia' SubClassOf 'Other genetic epidermal disease' 'Absence of fingerprints - congenital milia' SubClassOf 'Other genetic epidermal disease' 'Absence of fingerprints - congenital milia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019274 http://www.orpha.net/ORDO/Orphanet_2988 Pterygium colli - intellectual disability - digital anomalies 'Pterygium colli - intellectual disability - digital anomalies' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Pterygium colli - intellectual disability - digital anomalies' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Pterygium colli - intellectual disability - digital anomalies' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Pterygium colli - intellectual disability - digital anomalies' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_1655 Müllerian derivatives - lymphangiectasia - polydactyly 'Müllerian derivatives - lymphangiectasia - polydactyly' SubClassOf 'Syndromic lymphedema' 'Müllerian derivatives - lymphangiectasia - polydactyly' SubClassOf 'Syndromic lymphedema' 'Müllerian derivatives - lymphangiectasia - polydactyly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018722 http://www.orpha.net/ORDO/Orphanet_2987 Antecubital pterygium syndrome 'Antecubital pterygium syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021154 'Antecubital pterygium syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018798 http://www.orpha.net/ORDO/Orphanet_1653 Dentin dysplasia 'Dentin dysplasia' SubClassOf 'Hereditary dentin defect' 'Dentin dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002220 'Dentin dysplasia' SubClassOf 'Hereditary dentin defect' http://www.orpha.net/ORDO/Orphanet_2985 Pseudoprogeria syndrome 'Pseudoprogeria syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Pseudoprogeria syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Pseudoprogeria syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Pseudoprogeria syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015333 'Pseudoprogeria syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 http://www.orpha.net/ORDO/Orphanet_206966 Mitochondrial myopathy 'Mitochondrial myopathy' SubClassOf 'Muscular lipidosis' 'Mitochondrial myopathy' SubClassOf 'Muscular lipidosis' 'Mitochondrial myopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002921 'Mitochondrial myopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Mitochondrial myopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004069 http://www.orpha.net/ORDO/Orphanet_1654 Natal teeth - intestinal pseudoobstruction - patent ductus 'Natal teeth - intestinal pseudoobstruction - patent ductus' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Natal teeth - intestinal pseudoobstruction - patent ductus' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' http://www.orpha.net/ORDO/Orphanet_2983 Disorder of sex development - intellectual disability 'Disorder of sex development - intellectual disability' SubClassOf 'Syndrome with disorder of sex development of gynecological interest' 'Disorder of sex development - intellectual disability' SubClassOf 'Syndrome with 46,XY disorder of sex development' 'Disorder of sex development - intellectual disability' SubClassOf 'Syndrome with disorder of sex development of gynecological interest' 'Disorder of sex development - intellectual disability' SubClassOf 'Syndrome with 46,XY disorder of sex development' 'Disorder of sex development - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Disorder of sex development - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 http://www.orpha.net/ORDO/Orphanet_1652 Dent disease 'Dent disease' SubClassOf 'Genetic renal tubular disease' 'Dent disease' SubClassOf 'kidney disease' 'Dent disease' SubClassOf 'Genetic renal tubular disease' 'Dent disease' SubClassOf 'kidney disease' 'Dent disease' SubClassOf 'renal tubular transport disease' 'Dent disease' SubClassOf 'has_disease_location' some ('kidney' or ('part_of' some 'kidney')) http://www.orpha.net/ORDO/Orphanet_217607 Familial dilated cardiomyopathy 'Familial dilated cardiomyopathy' SubClassOf 'cardiomyopathy' 'Familial dilated cardiomyopathy' SubClassOf 'dilated cardiomyopathy' 'Familial dilated cardiomyopathy' SubClassOf 'has_disease_location' some 'myocardium' 'Familial dilated cardiomyopathy' EquivalentTo 'dilated cardiomyopathy' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) 'Familial dilated cardiomyopathy' SubClassOf 'familial cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_726 Alpers syndrome 'Alpers syndrome' SubClassOf 'brain disease' 'Alpers syndrome' SubClassOf 'Mitochondrial disease with peripheral neuropathy' 'Alpers syndrome' SubClassOf 'Genetic neurodegenerative disease' 'Alpers syndrome' SubClassOf 'Neurometabolic disease' 'Alpers syndrome' SubClassOf 'Mitochondrial DNA depletion syndrome' 'Alpers syndrome' SubClassOf 'brain disease' 'Alpers syndrome' SubClassOf 'Mitochondrial disease with peripheral neuropathy' 'Alpers syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016402 'Alpers syndrome' SubClassOf 'Genetic neurodegenerative disease' 'Alpers syndrome' SubClassOf 'Neurometabolic disease' 'Alpers syndrome' SubClassOf 'Mitochondrial DNA depletion syndrome, hepatocerebral form' 'Alpers syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 http://www.orpha.net/ORDO/Orphanet_725 Continuous spikes and waves during sleep 'Continuous spikes and waves during sleep' SubClassOf 'Childhood-onset epilepsy syndrome' 'Continuous spikes and waves during sleep' SubClassOf 'Landau-Kleffner syndrome' http://dbpedia.org/resource/Japan Japan 'Japan' SubClassOf 'country' 'Japan' SubClassOf 'country' http://www.ebi.ac.uk/efo/EFO_1001790 female athlete triad syndrome 'female athlete triad syndrome' SubClassOf 'eating disorder' 'female athlete triad syndrome' SubClassOf 'eating disorder' 'female athlete triad syndrome' SubClassOf 'has_disease_location' some ('endocrine system' or ('part_of' some 'endocrine system')) http://www.orpha.net/ORDO/Orphanet_93449 Primary osteolysis 'Primary osteolysis' SubClassOf 'Primary bone dysplasia' 'Primary osteolysis' SubClassOf 'Primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_93448 Lysosomal storage disease with skeletal involvement 'Lysosomal storage disease with skeletal involvement' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 'Lysosomal storage disease with skeletal involvement' SubClassOf 'bone disease' 'Lysosomal storage disease with skeletal involvement' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Lysosomal storage disease with skeletal involvement' SubClassOf 'Lysosomal disease' http://www.orpha.net/ORDO/Orphanet_93447 Primary bone dysplasia with defective bone mineralization 'Primary bone dysplasia with defective bone mineralization' SubClassOf 'Primary bone dysplasia' 'Primary bone dysplasia with defective bone mineralization' SubClassOf 'Primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_93446 Primary bone dysplasia with decreased bone density 'Primary bone dysplasia with decreased bone density' SubClassOf 'Primary bone dysplasia' 'Primary bone dysplasia with decreased bone density' SubClassOf 'Primary bone dysplasia with defective bone mineralization' http://www.orpha.net/ORDO/Orphanet_93444 Primary bone dysplasia with increased bone density 'Primary bone dysplasia with increased bone density' SubClassOf 'Primary bone dysplasia' 'Primary bone dysplasia with increased bone density' SubClassOf 'Primary bone dysplasia with defective bone mineralization' http://www.orpha.net/ORDO/Orphanet_93443 Neonatal osteosclerotic dysplasia 'Neonatal osteosclerotic dysplasia' SubClassOf 'Primary bone dysplasia with increased bone density' 'Neonatal osteosclerotic dysplasia' SubClassOf 'Primary bone dysplasia with increased bone density' 'Neonatal osteosclerotic dysplasia' SubClassOf 'osteochondrodysplasia' http://www.ebi.ac.uk/efo/EFO_1000466 Penile Fibromatosis 'Penile Fibromatosis' SubClassOf 'fibromatosis' 'Penile Fibromatosis' SubClassOf 'male reproductive system disease' 'Penile Fibromatosis' SubClassOf 'urogenital neoplasm' 'Penile Fibromatosis' SubClassOf 'Superficial Fibromatosis' 'Penile Fibromatosis' SubClassOf 'fibromatosis' 'Penile Fibromatosis' SubClassOf 'penile neoplasm' 'Penile Fibromatosis' SubClassOf 'has_disease_location' some ('penis' or ('part_of' some 'penis')) http://www.ebi.ac.uk/efo/EFO_1001798 immunoproliferative small intestinal disease 'immunoproliferative small intestinal disease' SubClassOf 'hyperplasia' 'immunoproliferative small intestinal disease' SubClassOf 'hyperplasia' 'immunoproliferative small intestinal disease' SubClassOf 'has_disease_location' some ('small intestine' or ('part_of' some 'small intestine')) http://www.ebi.ac.uk/efo/EFO_1000467 Peritoneal Mesothelioma 'Peritoneal Mesothelioma' SubClassOf 'mesothelioma' 'Peritoneal Mesothelioma' SubClassOf 'peritoneal neoplasm' 'Peritoneal Mesothelioma' SubClassOf 'mesothelioma' 'Peritoneal Mesothelioma' SubClassOf 'peritoneal neoplasm' 'Peritoneal Mesothelioma' SubClassOf 'has_disease_location' some ('peritoneum' or ('part_of' some 'peritoneum')) http://www.ebi.ac.uk/efo/EFO_1001797 Hemoglobin SC Disease 'Hemoglobin SC Disease' SubClassOf 'Sickle cell disease and related diseases' 'Hemoglobin SC Disease' SubClassOf 'Sickle cell disease and related diseases' http://www.ebi.ac.uk/efo/EFO_1000464 PEComa 'PEComa' SubClassOf 'neoplasm' 'PEComa' SubClassOf 'neoplasm' 'PEComa' SubClassOf 'Soft Tissue Neoplasm' http://www.ebi.ac.uk/efo/EFO_1001796 Glomus Jugulare Tumor 'Glomus Jugulare Tumor' SubClassOf 'neoplasm' 'Glomus Jugulare Tumor' SubClassOf 'neoplasm' http://www.orpha.net/ORDO/Orphanet_1941 Juvenile absence epilepsy 'Juvenile absence epilepsy' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'Juvenile absence epilepsy' 'Juvenile absence epilepsy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020573 'Juvenile absence epilepsy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100030 http://www.ebi.ac.uk/efo/EFO_1000465 Penile Carcinoma 'Penile Carcinoma' SubClassOf 'urogenital neoplasm' 'Penile Carcinoma' SubClassOf 'carcinoma' 'Penile Carcinoma' SubClassOf 'male reproductive system disease' 'Penile Carcinoma' SubClassOf 'carcinoma' 'Penile Carcinoma' SubClassOf 'has_disease_location' some ('penis' or ('part_of' some 'penis')) 'Penile Carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001325 http://www.ebi.ac.uk/efo/EFO_1001795 fusariosis 'fusariosis' SubClassOf 'infectious disease' 'fusariosis' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'fusariosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002312 'fusariosis' SubClassOf 'infectious disease' http://www.orpha.net/ORDO/Orphanet_1942 Myoclonic-astastic epilepsy 'Myoclonic-astastic epilepsy' SubClassOf 'Childhood-onset epilepsy syndrome' 'Myoclonic-astastic epilepsy' SubClassOf 'Childhood-onset epilepsy syndrome' 'Myoclonic-astastic epilepsy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 http://www.ebi.ac.uk/efo/EFO_1000462 Parotid Gland Pleomorphic Adenoma 'Parotid Gland Pleomorphic Adenoma' SubClassOf 'salivary gland neoplasm' 'Parotid Gland Pleomorphic Adenoma' SubClassOf 'has_disease_location' some ('saliva-secreting gland' or ('part_of' some 'saliva-secreting gland')) 'Parotid Gland Pleomorphic Adenoma' SubClassOf 'salivary gland neoplasm' http://www.ebi.ac.uk/efo/EFO_1001794 fetomaternal transfusion 'fetomaternal transfusion' SubClassOf 'placenta disease' 'fetomaternal transfusion' SubClassOf 'placenta disease' http://www.ebi.ac.uk/efo/EFO_1000463 Parotid Gland Squamous Cell Carcinoma 'Parotid Gland Squamous Cell Carcinoma' SubClassOf 'head and neck squamous cell carcinoma' 'Parotid Gland Squamous Cell Carcinoma' SubClassOf 'head and neck squamous cell carcinoma' 'Parotid Gland Squamous Cell Carcinoma' SubClassOf 'salivary gland squamous cell carcinoma' 'Parotid Gland Squamous Cell Carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021331 http://www.orpha.net/ORDO/Orphanet_1940 Shoulder and thorax deformity - congenital heart disease 'Shoulder and thorax deformity - congenital heart disease' SubClassOf 'Genetic syndrome with limb reduction defects' 'Shoulder and thorax deformity - congenital heart disease' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' 'Shoulder and thorax deformity - congenital heart disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015929 'Shoulder and thorax deformity - congenital heart disease' SubClassOf 'Genetic syndrome with limb reduction defects' http://www.ebi.ac.uk/efo/EFO_1000460 Parotid Gland Carcinoma 'Parotid Gland Carcinoma' SubClassOf 'parotid neoplasm' 'Parotid Gland Carcinoma' SubClassOf 'has_disease_location' some ('parotid gland' or ('part_of' some 'parotid gland')) 'Parotid Gland Carcinoma' SubClassOf 'parotid neoplasm' http://www.ebi.ac.uk/efo/EFO_1001792 femoral neck fracture 'femoral neck fracture' SubClassOf 'lower extremity fracture' 'femoral neck fracture' SubClassOf 'lower extremity fracture' 'femoral neck fracture' SubClassOf 'has_disease_location' some ('femur' or ('part_of' some 'femur')) http://www.ebi.ac.uk/efo/EFO_1000461 Parotid Gland Carcinoma ex Pleomorphic Adenoma 'Parotid Gland Carcinoma ex Pleomorphic Adenoma' SubClassOf 'head and neck neoplasia' 'Parotid Gland Carcinoma ex Pleomorphic Adenoma' SubClassOf 'carcinoma' 'Parotid Gland Carcinoma ex Pleomorphic Adenoma' SubClassOf 'digestive system disease' 'Parotid Gland Carcinoma ex Pleomorphic Adenoma' SubClassOf 'has_disease_location' some ('parotid gland' or ('part_of' some 'parotid gland')) 'Parotid Gland Carcinoma ex Pleomorphic Adenoma' SubClassOf 'carcinoma' 'Parotid Gland Carcinoma ex Pleomorphic Adenoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021331 'Parotid Gland Carcinoma ex Pleomorphic Adenoma' SubClassOf 'Major Salivary Gland Carcinoma ex Pleomorphic Adenoma' http://www.ebi.ac.uk/efo/EFO_1001791 femoral hernia 'femoral hernia' SubClassOf 'muscular disease' 'femoral hernia' SubClassOf 'has_disease_location' some ('abdominal wall' or ('part_of' some 'abdominal wall')) 'femoral hernia' SubClassOf 'muscular disease' http://www.orpha.net/ORDO/Orphanet_79147 Familial reactive perforating collagenosis 'Familial reactive perforating collagenosis' SubClassOf 'Genetic dermis elastic tissue disorder' 'Familial reactive perforating collagenosis' SubClassOf 'Genetic dermis elastic tissue disorder' http://www.orpha.net/ORDO/Orphanet_79146 Familial progressive hyperpigmentation 'Familial progressive hyperpigmentation' SubClassOf 'Genetic hyperpigmentation of the skin' 'Familial progressive hyperpigmentation' SubClassOf 'Genetic hyperpigmentation of the skin' http://purl.obolibrary.org/obo/CHEBI_8887 rofecoxib 'rofecoxib' SubClassOf 'has_role' some 'drug role' http://purl.obolibrary.org/obo/HP_0000682 Abnormality of dental enamel 'Abnormality of dental enamel' SubClassOf 'abnormality of the mouth' 'Abnormality of dental enamel' SubClassOf 'abnormality of the mouth' http://www.ebi.ac.uk/efo/EFO_1000468 Peritoneal Multicystic Mesothelioma 'Peritoneal Multicystic Mesothelioma' SubClassOf 'mesothelioma' 'Peritoneal Multicystic Mesothelioma' SubClassOf 'disease of peritoneum' 'Peritoneal Multicystic Mesothelioma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015683 'Peritoneal Multicystic Mesothelioma' SubClassOf 'mesothelioma' 'Peritoneal Multicystic Mesothelioma' SubClassOf 'has_disease_location' some ('peritoneum' or ('part_of' some 'peritoneum')) 'Peritoneal Multicystic Mesothelioma' SubClassOf 'Peritoneal Mesothelioma' http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy 'Early infantile epileptic encephalopathy' SubClassOf 'Channelopathy with epilepsy' 'Early infantile epileptic encephalopathy' SubClassOf 'ARX-related epileptic encephalopathy' 'Early infantile epileptic encephalopathy' SubClassOf 'generalised epilepsy' 'Early infantile epileptic encephalopathy' SubClassOf 'Channelopathy with epilepsy' 'Early infantile epileptic encephalopathy' SubClassOf 'ARX-related epileptic encephalopathy' 'Early infantile epileptic encephalopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100022 http://www.orpha.net/ORDO/Orphanet_79149 Dermochondrocorneal dystrophy 'Dermochondrocorneal dystrophy' SubClassOf 'Syndromic corneal dystrophy' 'Dermochondrocorneal dystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021154 'Dermochondrocorneal dystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018798 'Dermochondrocorneal dystrophy' SubClassOf 'Syndromic corneal dystrophy' http://www.ebi.ac.uk/efo/EFO_1000469 Peritoneal Well Differentiated Papillary Mesothelioma 'Peritoneal Well Differentiated Papillary Mesothelioma' SubClassOf 'disease of peritoneum' 'Peritoneal Well Differentiated Papillary Mesothelioma' SubClassOf 'mesothelioma' 'Peritoneal Well Differentiated Papillary Mesothelioma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003688 'Peritoneal Well Differentiated Papillary Mesothelioma' SubClassOf 'mesothelioma' 'Peritoneal Well Differentiated Papillary Mesothelioma' SubClassOf 'has_disease_location' some ('peritoneum' or ('part_of' some 'peritoneum')) 'Peritoneal Well Differentiated Papillary Mesothelioma' SubClassOf 'Peritoneal Mesothelioma' http://www.ebi.ac.uk/efo/EFO_1001799 incomplete abortion 'incomplete abortion' SubClassOf 'abortion' 'incomplete abortion' SubClassOf 'abortion' http://www.orpha.net/ORDO/Orphanet_1935 Early myoclonic encephalopathy 'Early myoclonic encephalopathy' SubClassOf 'Mitochondrial substrate carrier disorder' 'Early myoclonic encephalopathy' SubClassOf 'Mitochondrial substrate carrier disorder' 'Early myoclonic encephalopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Early myoclonic encephalopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100022 'Early myoclonic encephalopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000412 http://www.orpha.net/ORDO/Orphanet_93453 Dysostosis with predominant craniofacial involvement 'Dysostosis with predominant craniofacial involvement' SubClassOf 'Dysostosis of genetic origin' 'Dysostosis with predominant craniofacial involvement' SubClassOf 'Dysostosis of genetic origin' http://www.orpha.net/ORDO/Orphanet_79143 Congenital anonychia 'Congenital anonychia' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Congenital anonychia' SubClassOf 'Isolated nail anomaly' 'Congenital anonychia' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Congenital anonychia' SubClassOf 'Isolated nail anomaly' http://www.orpha.net/ORDO/Orphanet_79142 Familial Dupuytren contracture 'Familial Dupuytren contracture' SubClassOf 'Other genetic epidermal disease' 'Familial Dupuytren contracture' SubClassOf 'Other genetic epidermal disease' 'Familial Dupuytren contracture' SubClassOf 'skin neoplasm' 'Familial Dupuytren contracture' SubClassOf 'Superficial Fibromatosis' http://www.orpha.net/ORDO/Orphanet_93451 Cleidocranial dysplasia and isolated cranial ossification defect 'Cleidocranial dysplasia and isolated cranial ossification defect' SubClassOf 'Primary bone dysplasia' 'Cleidocranial dysplasia and isolated cranial ossification defect' SubClassOf 'Primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_157801 Mesoaxial synostotic syndactyly with phalangeal reduction 'Mesoaxial synostotic syndactyly with phalangeal reduction' SubClassOf 'Syndactyly' 'Mesoaxial synostotic syndactyly with phalangeal reduction' SubClassOf 'Syndactyly' http://www.orpha.net/ORDO/Orphanet_79145 Dowling-Degos disease 'Dowling-Degos disease' SubClassOf 'Genetic hyperpigmentation of the skin' 'Dowling-Degos disease' SubClassOf 'Congenital disorder of glycosylation with skin involvement' 'Dowling-Degos disease' SubClassOf 'Disorder of fucoglycosan synthesis' 'Dowling-Degos disease' SubClassOf 'Genetic hyperpigmentation of the skin' 'Dowling-Degos disease' SubClassOf 'Congenital disorder of glycosylation with skin involvement' 'Dowling-Degos disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000118 'Dowling-Degos disease' SubClassOf 'Disorder of fucoglycosan synthesis' http://www.orpha.net/ORDO/Orphanet_93450 Primary bone dysplasia with disorganized development of skeletal components 'Primary bone dysplasia with disorganized development of skeletal components' SubClassOf 'Primary bone dysplasia' 'Primary bone dysplasia with disorganized development of skeletal components' SubClassOf 'Primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_79144 Congenital onychodysplasia 'Congenital onychodysplasia' SubClassOf 'Isolated nail anomaly' 'Congenital onychodysplasia' SubClassOf 'Isolated nail anomaly' http://www.orpha.net/ORDO/Orphanet_79141 Hereditary painful callosities 'Hereditary painful callosities' SubClassOf 'Isolated focal palmoplantar keratoderma' 'Hereditary painful callosities' SubClassOf 'Isolated focal palmoplantar keratoderma' http://purl.obolibrary.org/obo/HP_0011342 Mild global developmental delay 'Mild global developmental delay' SubClassOf 'global developmental delay' 'Mild global developmental delay' SubClassOf 'global developmental delay' http://www.ebi.ac.uk/efo/EFO_1000470 Peutz-Jeghers Polyp 'Peutz-Jeghers Polyp' SubClassOf 'polyp' 'Peutz-Jeghers Polyp' SubClassOf 'has_disease_location' some ('stomach' or ('part_of' some 'stomach')) 'Peutz-Jeghers Polyp' SubClassOf 'has_disease_location' some ('intestine' or ('part_of' some 'intestine')) 'Peutz-Jeghers Polyp' SubClassOf 'Gastrointestinal Hamartoma' 'Peutz-Jeghers Polyp' SubClassOf 'polyp' http://www.orpha.net/ORDO/Orphanet_276399 Familial multinodular goiter 'Familial multinodular goiter' SubClassOf 'Inherited cancer-predisposing syndrome' 'Familial multinodular goiter' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000334 'Familial multinodular goiter' SubClassOf 'Inherited cancer-predisposing syndrome' 'Familial multinodular goiter' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0000334 and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) http://www.orpha.net/ORDO/Orphanet_93459 Syndrome with synostosis or other joint formation defect 'Syndrome with synostosis or other joint formation defect' SubClassOf 'Genetic syndrome with limb malformations as a major feature' 'Syndrome with synostosis or other joint formation defect' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' 'Syndrome with synostosis or other joint formation defect' SubClassOf 'Genetic syndrome with limb malformations as a major feature' 'Syndrome with synostosis or other joint formation defect' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' http://www.orpha.net/ORDO/Orphanet_93458 Non-syndromic polydactyly, syndactyly and/or hyperphalangy 'Non-syndromic polydactyly, syndactyly and/or hyperphalangy' SubClassOf 'Non-syndromic limb malformation' 'Non-syndromic polydactyly, syndactyly and/or hyperphalangy' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' 'Non-syndromic polydactyly, syndactyly and/or hyperphalangy' SubClassOf 'Non-syndromic limb malformation' 'Non-syndromic polydactyly, syndactyly and/or hyperphalangy' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' http://www.orpha.net/ORDO/Orphanet_363700 Neurofibromatosis type 1 due to NF1mutation or intragenic deletion 'Neurofibromatosis type 1 due to NF1mutation or intragenic deletion' SubClassOf 'Neurofibromatosis type 1' 'Neurofibromatosis type 1 due to NF1mutation or intragenic deletion' SubClassOf 'Neurofibromatosis type 1' http://www.orpha.net/ORDO/Orphanet_93457 Non-syndromic limb reduction defect 'Non-syndromic limb reduction defect' SubClassOf 'Non-syndromic limb malformation' 'Non-syndromic limb reduction defect' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' 'Non-syndromic limb reduction defect' SubClassOf 'Non-syndromic limb malformation' 'Non-syndromic limb reduction defect' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' http://purl.obolibrary.org/obo/HP_0012675 iron accumulation in brain 'iron accumulation in brain' SubClassOf 'abnormality of brain morphology' 'iron accumulation in brain' SubClassOf 'abnormality of brain morphology' http://www.orpha.net/ORDO/Orphanet_93455 Patellar dysostosis 'Patellar dysostosis' SubClassOf 'Dysostosis of genetic origin' 'Patellar dysostosis' SubClassOf 'Dysostosis of genetic origin' http://purl.obolibrary.org/obo/HP_0011344 severe global developmental delay 'severe global developmental delay' SubClassOf 'global developmental delay' 'severe global developmental delay' SubClassOf 'global developmental delay' http://www.orpha.net/ORDO/Orphanet_93454 Dysostosis with predominant vertebral and costal involvement 'Dysostosis with predominant vertebral and costal involvement' SubClassOf 'Dysostosis of genetic origin' 'Dysostosis with predominant vertebral and costal involvement' SubClassOf 'Dysostosis of genetic origin' http://www.ebi.ac.uk/efo/EFO_1000477 Pituicytoma 'Pituicytoma' SubClassOf 'carcinoma' 'Pituicytoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016685 'Pituicytoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003257 'Pituicytoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003169 'Pituicytoma' SubClassOf 'carcinoma' 'Pituicytoma' SubClassOf 'pituitary cancer' http://www.orpha.net/ORDO/Orphanet_1954 Congenital lethal erythroderma 'Congenital lethal erythroderma' SubClassOf 'Unclassified genetic skin disorder' 'Congenital lethal erythroderma' SubClassOf 'Unclassified genetic skin disorder' http://www.ebi.ac.uk/efo/EFO_1000478 Pituitary Gland Adenoma 'Pituitary Gland Adenoma' SubClassOf 'adenoma' 'Pituitary Gland Adenoma' SubClassOf 'brain neoplasm' 'Pituitary Gland Adenoma' SubClassOf 'endocrine neoplasm' 'Pituitary Gland Adenoma' SubClassOf 'adenoma' 'Pituitary Gland Adenoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017611 'Pituitary Gland Adenoma' SubClassOf 'endocrine neoplasm' 'Pituitary Gland Adenoma' SubClassOf 'has_disease_location' some ('pituitary gland' or ('part_of' some 'pituitary gland')) 'Pituitary Gland Adenoma' SubClassOf 'disease has feature' some http://purl.obolibrary.org/obo/MONDO_0019833 http://www.orpha.net/ORDO/Orphanet_1955 Spinocerebellar ataxia type 34 'Spinocerebellar ataxia type 34' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' 'Spinocerebellar ataxia type 34' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019270 'Spinocerebellar ataxia type 34' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 'Spinocerebellar ataxia type 34' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' http://www.ebi.ac.uk/efo/EFO_1000475 Pineoblastoma 'Pineoblastoma' SubClassOf 'embryonal neoplasm' 'Pineoblastoma' SubClassOf 'carcinoma' 'Pineoblastoma' SubClassOf 'brain neoplasm' 'Pineoblastoma' SubClassOf 'central nervous system cancer' 'Pineoblastoma' SubClassOf 'endocrine neoplasm' 'Pineoblastoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016708 'Pineoblastoma' SubClassOf 'has_disease_location' some ('pineal body' or ('part_of' some 'pineal body')) 'Pineoblastoma' SubClassOf 'embryonal neoplasm' 'Pineoblastoma' SubClassOf 'carcinoma' 'Pineoblastoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003249 'Pineoblastoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016721 http://www.orpha.net/ORDO/Orphanet_1952 Pacman dysplasia 'Pacman dysplasia' SubClassOf 'Primary osteolysis' 'Pacman dysplasia' SubClassOf 'Primary osteolysis' http://www.ebi.ac.uk/efo/EFO_1000476 Pineocytoma 'Pineocytoma' SubClassOf 'neoplasm' 'Pineocytoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016721 'Pineocytoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021451 'Pineocytoma' SubClassOf 'neoplasm' 'Pineocytoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000627 'Pineocytoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024890 http://www.ebi.ac.uk/efo/EFO_1000473 Phosphaturic Mesenchymal Tumor 'Phosphaturic Mesenchymal Tumor' SubClassOf 'neoplasm' 'Phosphaturic Mesenchymal Tumor' SubClassOf 'neoplasm' http://www.ebi.ac.uk/efo/EFO_1000474 Pineal Parenchymal Tumor of Intermediate Differentiation 'Pineal Parenchymal Tumor of Intermediate Differentiation' SubClassOf 'brain neoplasm' 'Pineal Parenchymal Tumor of Intermediate Differentiation' SubClassOf 'endocrine neoplasm' 'Pineal Parenchymal Tumor of Intermediate Differentiation' SubClassOf 'carcinoma' 'Pineal Parenchymal Tumor of Intermediate Differentiation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024890 'Pineal Parenchymal Tumor of Intermediate Differentiation' SubClassOf 'has_disease_location' some ('pineal body' or ('part_of' some 'pineal body')) 'Pineal Parenchymal Tumor of Intermediate Differentiation' SubClassOf 'carcinoma' http://www.orpha.net/ORDO/Orphanet_1951 Epilepsy telangiectasia 'Epilepsy telangiectasia' SubClassOf 'Epilepsy syndrome' 'Epilepsy telangiectasia' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Epilepsy telangiectasia' SubClassOf 'Epilepsy syndrome' 'Epilepsy telangiectasia' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Epilepsy telangiectasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Epilepsy telangiectasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 http://www.ebi.ac.uk/efo/EFO_1000471 Peutz-Jeghers Polyp of the Stomach 'Peutz-Jeghers Polyp of the Stomach' SubClassOf 'polyp' 'Peutz-Jeghers Polyp of the Stomach' SubClassOf 'stomach neoplasm' 'Peutz-Jeghers Polyp of the Stomach' SubClassOf 'Peutz-Jeghers syndrome' 'Peutz-Jeghers Polyp of the Stomach' SubClassOf 'Peutz-Jeghers Polyp' 'Peutz-Jeghers Polyp of the Stomach' SubClassOf 'has_disease_location' some ('stomach' or ('part_of' some 'stomach')) 'Peutz-Jeghers Polyp of the Stomach' SubClassOf 'polyp' 'Peutz-Jeghers Polyp of the Stomach' SubClassOf 'Gastric Hamartomatous Polyp' 'Peutz-Jeghers Polyp of the Stomach' SubClassOf 'Peutz-Jeghers syndrome' http://www.ebi.ac.uk/efo/EFO_1000472 Pharyngeal Adenoid Cystic Carcinoma 'Pharyngeal Adenoid Cystic Carcinoma' SubClassOf 'respiratory system neoplasm' 'Pharyngeal Adenoid Cystic Carcinoma' SubClassOf 'adenoid cystic carcinoma' 'Pharyngeal Adenoid Cystic Carcinoma' SubClassOf 'digestive system disease' 'Pharyngeal Adenoid Cystic Carcinoma' SubClassOf 'has_disease_location' some ('chordate pharynx' or ('part_of' some 'chordate pharynx')) 'Pharyngeal Adenoid Cystic Carcinoma' SubClassOf 'adenoid cystic carcinoma' 'Pharyngeal Adenoid Cystic Carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021345 'Pharyngeal Adenoid Cystic Carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002038 'Pharyngeal Adenoid Cystic Carcinoma' SubClassOf 'pharynx cancer' http://www.orpha.net/ORDO/Orphanet_1949 Benign familial neonatal seizures 'Benign familial neonatal seizures' SubClassOf 'Neonatal epilepsy syndrome' 'Benign familial neonatal seizures' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000412 'Benign familial neonatal seizures' SubClassOf 'Neonatal epilepsy syndrome' http://www.orpha.net/ORDO/Orphanet_1947 Progressive epilepsy - intellectual disability, Finnish type 'Progressive epilepsy - intellectual disability, Finnish type' SubClassOf 'Progressive myoclonic epilepsy' 'Progressive epilepsy - intellectual disability, Finnish type' SubClassOf 'Monogenic disease with epilepsy' 'Progressive epilepsy - intellectual disability, Finnish type' SubClassOf 'Neuronal ceroid lipofuscinosis' 'Progressive epilepsy - intellectual disability, Finnish type' SubClassOf 'Rare syndromic dyslipidemia' 'Progressive epilepsy - intellectual disability, Finnish type' SubClassOf 'Monogenic disease with epilepsy' 'Progressive epilepsy - intellectual disability, Finnish type' SubClassOf 'CLN8 disease' http://www.orpha.net/ORDO/Orphanet_79136 Episodic ataxia type 4 'Episodic ataxia type 4' SubClassOf 'Hereditary episodic ataxia' 'Episodic ataxia type 4' SubClassOf 'Hereditary episodic ataxia' http://www.orpha.net/ORDO/Orphanet_1948 Epilepsy - microcephaly - skeletal dysplasia 'Epilepsy - microcephaly - skeletal dysplasia' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Epilepsy - microcephaly - skeletal dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Epilepsy - microcephaly - skeletal dysplasia' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Epilepsy - microcephaly - skeletal dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 http://www.orpha.net/ORDO/Orphanet_79135 Episodic ataxia type 3 'Episodic ataxia type 3' SubClassOf 'Hereditary episodic ataxia' 'Episodic ataxia type 3' SubClassOf 'Hereditary episodic ataxia' http://www.ebi.ac.uk/efo/EFO_1000479 Placental Choriocarcinoma 'Placental Choriocarcinoma' SubClassOf 'choriocarcinoma' 'Placental Choriocarcinoma' SubClassOf 'placenta disease' 'Placental Choriocarcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020550 'Placental Choriocarcinoma' SubClassOf 'choriocarcinoma' 'Placental Choriocarcinoma' SubClassOf 'has_disease_location' some ('placenta' or ('part_of' some 'placenta')) 'Placental Choriocarcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002178 http://www.orpha.net/ORDO/Orphanet_1945 Rolandic epilepsy 'Rolandic epilepsy' SubClassOf 'Familial partial epilepsy' 'Rolandic epilepsy' SubClassOf 'Landau-Kleffner syndrome' 'Rolandic epilepsy' SubClassOf 'Familial partial epilepsy' http://www.orpha.net/ORDO/Orphanet_1946 Amelo-cerebro-hypohidrotic syndrome 'Amelo-cerebro-hypohidrotic syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Amelo-cerebro-hypohidrotic syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Amelo-cerebro-hypohidrotic syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Amelo-cerebro-hypohidrotic syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' http://www.orpha.net/ORDO/Orphanet_79137 Generalized epilepsy - paroxysmal dyskinesia 'Generalized epilepsy - paroxysmal dyskinesia' SubClassOf 'Familial partial epilepsy' 'Generalized epilepsy - paroxysmal dyskinesia' SubClassOf 'Familial partial epilepsy' http://www.orpha.net/ORDO/Orphanet_79132 Sparse hair - short stature - skin anomalies 'Sparse hair - short stature - skin anomalies' SubClassOf 'Ectodermal dysplasia syndrome' 'Sparse hair - short stature - skin anomalies' SubClassOf 'Ectodermal dysplasia syndrome' http://www.orpha.net/ORDO/Orphanet_79134 DEND syndrome 'DEND syndrome' SubClassOf 'Neonatal diabetes mellitus' 'DEND syndrome' SubClassOf 'Epilepsy syndrome' 'DEND syndrome' SubClassOf 'Inborn errors of metabolism' 'DEND syndrome' SubClassOf 'Permanent neonatal diabetes mellitus' 'DEND syndrome' SubClassOf 'Epilepsy syndrome' http://purl.obolibrary.org/obo/CHEBI_7565 nifedipine 'nifedipine' SubClassOf ('has_role' some 'cytokinins') or ('has_role' some 'xenobiotic') http://www.orpha.net/ORDO/Orphanet_79133 Focal facial dermal dysplasia type I 'Focal facial dermal dysplasia type I' SubClassOf 'Focal facial dermal dysplasia' 'Focal facial dermal dysplasia type I' SubClassOf 'Focal facial dermal dysplasia' http://www.orpha.net/ORDO/Orphanet_93460 Overgrowth syndrome 'Overgrowth syndrome' SubClassOf 'Genetic overgrowth/obesity syndrome' 'Overgrowth syndrome' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Overgrowth syndrome' SubClassOf 'Genetic overgrowth/obesity syndrome' http://www.ebi.ac.uk/efo/EFO_1000480 Placental Hemangioma 'Placental Hemangioma' SubClassOf 'neoplasm' 'Placental Hemangioma' SubClassOf 'hemangioma' 'Placental Hemangioma' SubClassOf 'has_disease_location' some ('foetal structure' or ('part_of' some 'foetal structure')) 'Placental Hemangioma' SubClassOf 'Tuberculosis, Cutaneous' 'Placental Hemangioma' SubClassOf 'neoplasm' http://www.orpha.net/ORDO/Orphanet_363710 Spinocerebellar ataxia type 37 'Spinocerebellar ataxia type 37' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' 'Spinocerebellar ataxia type 37' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' http://www.ebi.ac.uk/efo/EFO_1000481 Plantar Fibromatosis 'Plantar Fibromatosis' SubClassOf 'fibromatosis' 'Plantar Fibromatosis' SubClassOf 'fibromatosis' 'Plantar Fibromatosis' SubClassOf 'Superficial Fibromatosis' 'Plantar Fibromatosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044989 http://purl.obolibrary.org/obo/CHEBI_17120 hexanoate 'hexanoate' SubClassOf 'lipid' 'hexanoate' SubClassOf 'lipid' http://www.orpha.net/ORDO/Orphanet_93465 Lethal chondrodysplasia 'Lethal chondrodysplasia' SubClassOf 'Primary bone dysplasia' 'Lethal chondrodysplasia' SubClassOf 'Primary bone dysplasia' http://www.ebi.ac.uk/efo/EFO_1000488 Polar Spongioblastoma 'Polar Spongioblastoma' SubClassOf 'glioblastoma multiforme' 'Polar Spongioblastoma' SubClassOf 'glioblastoma multiforme' http://www.ebi.ac.uk/efo/EFO_1000489 Poorly Differentiated Thyroid Gland Carcinoma 'Poorly Differentiated Thyroid Gland Carcinoma' SubClassOf 'adenocarcinoma' 'Poorly Differentiated Thyroid Gland Carcinoma' SubClassOf 'endocrine neoplasm' 'Poorly Differentiated Thyroid Gland Carcinoma' SubClassOf 'adenocarcinoma' 'Poorly Differentiated Thyroid Gland Carcinoma' SubClassOf 'has_disease_location' some ('thyroid gland' or ('part_of' some 'thyroid gland')) http://purl.obolibrary.org/obo/CL_0000501 granulosa cell 'granulosa cell' SubClassOf 'located_in' some 'female gonad' http://www.ebi.ac.uk/efo/EFO_1000486 Pleural Sarcomatoid Mesothelioma 'Pleural Sarcomatoid Mesothelioma' SubClassOf 'mesothelioma' 'Pleural Sarcomatoid Mesothelioma' SubClassOf 'respiratory system neoplasm' 'Pleural Sarcomatoid Mesothelioma' SubClassOf 'Sarcomatoid Mesothelioma' 'Pleural Sarcomatoid Mesothelioma' SubClassOf 'has_disease_location' some ('pleura' or ('part_of' some 'pleura')) 'Pleural Sarcomatoid Mesothelioma' SubClassOf 'malignant pleural mesothelioma' 'Pleural Sarcomatoid Mesothelioma' SubClassOf 'mesothelioma' http://www.ebi.ac.uk/efo/EFO_1000487 Plexiform Ameloblastoma 'Plexiform Ameloblastoma' SubClassOf 'neoplasm' 'Plexiform Ameloblastoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017795 'Plexiform Ameloblastoma' SubClassOf 'neoplasm' http://www.orpha.net/ORDO/Orphanet_169802 Severe hemophilia A 'Severe hemophilia A' SubClassOf 'Hemophilia A' 'Severe hemophilia A' SubClassOf 'Hemophilia A' http://purl.obolibrary.org/obo/CHEBI_17126 carnitine 'carnitine' SubClassOf 'chemical entity' 'carnitine' SubClassOf 'chemical entity' http://www.ebi.ac.uk/efo/EFO_1000484 Pleural Epithelioid Mesothelioma 'Pleural Epithelioid Mesothelioma' SubClassOf 'malignant epithelioid mesothelioma' 'Pleural Epithelioid Mesothelioma' SubClassOf 'malignant pleural mesothelioma' 'Pleural Epithelioid Mesothelioma' SubClassOf 'malignant epithelioid mesothelioma' http://www.ebi.ac.uk/efo/EFO_1000485 Pleural Mesothelioma 'Pleural Mesothelioma' SubClassOf 'mesothelioma' 'Pleural Mesothelioma' SubClassOf 'respiratory system neoplasm' 'Pleural Mesothelioma' SubClassOf 'mesothelioma' 'Pleural Mesothelioma' SubClassOf 'has_disease_location' some ('pleura' or ('part_of' some 'pleura')) 'Pleural Mesothelioma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021065 http://www.orpha.net/ORDO/Orphanet_1962 Exostoses - anetodermia - brachydactyly type E 'Exostoses - anetodermia - brachydactyly type E' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'Exostoses - anetodermia - brachydactyly type E' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' http://www.ebi.ac.uk/efo/EFO_1000482 obsolete_pleomorphic breast carcinoma 'obsolete_pleomorphic breast carcinoma' SubClassOf 'obsolete class' 'obsolete_pleomorphic breast carcinoma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000483 Pleural Biphasic Mesothelioma 'Pleural Biphasic Mesothelioma' SubClassOf 'mesothelioma' 'Pleural Biphasic Mesothelioma' SubClassOf 'respiratory system neoplasm' 'Pleural Biphasic Mesothelioma' SubClassOf 'mesothelioma' 'Pleural Biphasic Mesothelioma' SubClassOf 'has_disease_location' some ('pleura' or ('part_of' some 'pleura')) 'Pleural Biphasic Mesothelioma' SubClassOf 'Biphasic Mesothelioma' http://www.orpha.net/ORDO/Orphanet_79129 Trichodysplasia - amelogenesis imperfecta 'Trichodysplasia - amelogenesis imperfecta' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Trichodysplasia - amelogenesis imperfecta' SubClassOf 'Ectodermal dysplasia syndrome' 'Trichodysplasia - amelogenesis imperfecta' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Trichodysplasia - amelogenesis imperfecta' SubClassOf 'Ectodermal dysplasia syndrome' http://www.orpha.net/ORDO/Orphanet_79124 Hepatic veno-occlusive disease - immunodeficiency 'Hepatic veno-occlusive disease - immunodeficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019514 'Hepatic veno-occlusive disease - immunodeficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018035 http://www.orpha.net/ORDO/Orphanet_1956 Erythromelalgia 'Erythromelalgia' SubClassOf 'Unclassified genetic skin disorder' 'Erythromelalgia' SubClassOf 'Autosomal dominant hereditary sensory and autonomic neuropathy' 'Erythromelalgia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 'Erythromelalgia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043218 'Erythromelalgia' SubClassOf 'Unclassified genetic skin disorder' 'Erythromelalgia' SubClassOf 'peripheral vascular disease' 'Erythromelalgia' SubClassOf 'Autosomal dominant hereditary sensory and autonomic neuropathy' http://purl.obolibrary.org/obo/CHEBI_7575 nimodipine 'nimodipine' SubClassOf 'has_role' some 'vasodilator agent' http://www.orpha.net/ORDO/Orphanet_93474 Scheie syndrome 'Scheie syndrome' SubClassOf 'Mucopolysaccharidosis type 1' 'Scheie syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Scheie syndrome' SubClassOf 'Mucopolysaccharidosis type 1' http://www.orpha.net/ORDO/Orphanet_93473 Hurler syndrome 'Hurler syndrome' SubClassOf 'Lysosomal disease with hypertrophic cardiomyopathy' 'Hurler syndrome' SubClassOf 'Lysosomal disease with restrictive cardiomyopathy' 'Hurler syndrome' SubClassOf 'Mucopolysaccharidosis type 1' 'Hurler syndrome' SubClassOf 'Lysosomal disease with hypertrophic cardiomyopathy' 'Hurler syndrome' SubClassOf 'Lysosomal disease with restrictive cardiomyopathy' 'Hurler syndrome' SubClassOf 'Mucopolysaccharidosis type 1' 'Hurler syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Hurler syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044976 http://purl.obolibrary.org/obo/NCBITaxon_52586 Erysiphe necator 'Erysiphe necator' SubClassOf 'Ascomycota' 'Erysiphe necator' SubClassOf 'Ascomycota' http://www.orpha.net/ORDO/Orphanet_157820 Cold-induced sweating syndrome 'Cold-induced sweating syndrome' SubClassOf 'Cold-induced sweating syndrome-hyperthermia spectrum' 'Cold-induced sweating syndrome' SubClassOf 'Cold-induced sweating syndrome-hyperthermia spectrum' http://www.orpha.net/ORDO/Orphanet_363705 Craniofaciofrontodigital syndrome 'Craniofaciofrontodigital syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Craniofaciofrontodigital syndrome' SubClassOf 'Dysostosis with predominant craniofacial involvement' 'Craniofaciofrontodigital syndrome' SubClassOf 'Cutis laxa' 'Craniofaciofrontodigital syndrome' SubClassOf 'Cutis laxa' 'Craniofaciofrontodigital syndrome' SubClassOf 'Dysostosis with predominant craniofacial involvement' 'Craniofaciofrontodigital syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.ebi.ac.uk/efo/EFO_1000491 Primary Effusion Lymphoma 'Primary Effusion Lymphoma' SubClassOf 'lymphoma' 'Primary Effusion Lymphoma' SubClassOf 'lymphoma' 'Primary Effusion Lymphoma' SubClassOf 'diffuse large B-cell lymphoma' 'Primary Effusion Lymphoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017343 'Primary Effusion Lymphoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015157 http://www.ebi.ac.uk/efo/EFO_1000492 Primary Intraosseous Squamous Cell Carcinoma 'Primary Intraosseous Squamous Cell Carcinoma' SubClassOf 'head and neck squamous cell carcinoma' 'Primary Intraosseous Squamous Cell Carcinoma' SubClassOf 'head and neck squamous cell carcinoma' http://purl.obolibrary.org/obo/CHEBI_17113 erythritol 'erythritol' SubClassOf 'carbohydrate' 'erythritol' SubClassOf 'carbohydrate' http://www.ebi.ac.uk/efo/EFO_1000490 Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type 'Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type' SubClassOf 'skin neoplasm' 'Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type' SubClassOf 'diffuse large B-cell lymphoma' 'Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015818 'Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type' SubClassOf 'has_disease_location' some ('zone of skin' or ('part_of' some 'zone of skin')) 'Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type' SubClassOf 'has_disease_location' some 'lymphocyte of B lineage' 'Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type' SubClassOf 'has_disease_location' some ('leg' or ('part_of' some 'leg')) 'Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type' SubClassOf 'diffuse large B-cell lymphoma' http://www.orpha.net/ORDO/Orphanet_157808 Congenital pseudoarthrosis of the limbs 'Congenital pseudoarthrosis of the limbs' SubClassOf 'Non-syndromic limb malformation' 'Congenital pseudoarthrosis of the limbs' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' 'Congenital pseudoarthrosis of the limbs' SubClassOf 'Non-syndromic limb malformation' 'Congenital pseudoarthrosis of the limbs' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' http://www.orpha.net/ORDO/Orphanet_363722 Alexander disease type II 'Alexander disease type II' SubClassOf 'Alexander disease' 'Alexander disease type II' SubClassOf 'Alexander disease' http://www.orpha.net/ORDO/Orphanet_93476 Hurler-Scheie syndrome 'Hurler-Scheie syndrome' SubClassOf 'Mucopolysaccharidosis type 1' 'Hurler-Scheie syndrome' SubClassOf 'Lysosomal disease with hypertrophic cardiomyopathy' 'Hurler-Scheie syndrome' SubClassOf 'Mucopolysaccharidosis type 1' 'Hurler-Scheie syndrome' SubClassOf 'Lysosomal disease with hypertrophic cardiomyopathy' 'Hurler-Scheie syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 http://www.ebi.ac.uk/efo/EFO_1000499 Prostate Small Cell Carcinoma 'Prostate Small Cell Carcinoma' SubClassOf 'endocrine neoplasm' 'Prostate Small Cell Carcinoma' SubClassOf 'prostate carcinoma' 'Prostate Small Cell Carcinoma' SubClassOf 'has_disease_location' some ('prostate gland' or ('part_of' some 'prostate gland')) 'Prostate Small Cell Carcinoma' SubClassOf 'endocrine neoplasm' 'Prostate Small Cell Carcinoma' SubClassOf 'prostate carcinoma' 'Prostate Small Cell Carcinoma' SubClassOf 'small cell carcinoma' 'Prostate Small Cell Carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002477 http://www.ebi.ac.uk/efo/EFO_1000497 Prolactin-Producing Pituitary Gland Carcinoma 'Prolactin-Producing Pituitary Gland Carcinoma' SubClassOf 'central nervous system cancer' 'Prolactin-Producing Pituitary Gland Carcinoma' SubClassOf 'brain neoplasm' 'Prolactin-Producing Pituitary Gland Carcinoma' SubClassOf 'adenocarcinoma' 'Prolactin-Producing Pituitary Gland Carcinoma' SubClassOf 'endocrine neoplasm' 'Prolactin-Producing Pituitary Gland Carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017582 'Prolactin-Producing Pituitary Gland Carcinoma' SubClassOf 'has_disease_location' some ('pituitary gland' or ('part_of' some 'pituitary gland')) 'Prolactin-Producing Pituitary Gland Carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003430 'Prolactin-Producing Pituitary Gland Carcinoma' SubClassOf 'adenocarcinoma' 'Prolactin-Producing Pituitary Gland Carcinoma' SubClassOf 'endocrine neoplasm' http://www.orpha.net/ORDO/Orphanet_1974 Autosomal recessive facio-digito-genital syndrome 'Autosomal recessive facio-digito-genital syndrome' SubClassOf 'Syndromic urogenital tract malformation' 'Autosomal recessive facio-digito-genital syndrome' SubClassOf 'Genetic malformation syndrome with short stature' 'Autosomal recessive facio-digito-genital syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Autosomal recessive facio-digito-genital syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021005 'Autosomal recessive facio-digito-genital syndrome' SubClassOf 'autosomal recessive disease' 'Autosomal recessive facio-digito-genital syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.ebi.ac.uk/efo/EFO_1000498 Prostate Rhabdomyosarcoma 'Prostate Rhabdomyosarcoma' SubClassOf 'rhabdomyosarcoma' 'Prostate Rhabdomyosarcoma' SubClassOf 'muscular disease' 'Prostate Rhabdomyosarcoma' SubClassOf 'has_disease_location' some ('skeletal muscle organ' or ('part_of' some 'skeletal muscle organ')) 'Prostate Rhabdomyosarcoma' SubClassOf 'rhabdomyosarcoma' 'Prostate Rhabdomyosarcoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002854 http://www.ebi.ac.uk/efo/EFO_1000495 Primary Pulmonary Diffuse Large B-Cell Lymphoma 'Primary Pulmonary Diffuse Large B-Cell Lymphoma' SubClassOf 'lymphoma' 'Primary Pulmonary Diffuse Large B-Cell Lymphoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000621 'Primary Pulmonary Diffuse Large B-Cell Lymphoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020644 'Primary Pulmonary Diffuse Large B-Cell Lymphoma' SubClassOf 'has_disease_location' some 'lymphocyte of B lineage' 'Primary Pulmonary Diffuse Large B-Cell Lymphoma' SubClassOf 'diffuse large B-cell lymphoma' 'Primary Pulmonary Diffuse Large B-Cell Lymphoma' SubClassOf 'lymphoma' http://www.orpha.net/ORDO/Orphanet_1972 Lethal faciocardiomelic dysplasia 'Lethal faciocardiomelic dysplasia' SubClassOf 'Genetic syndrome with limb reduction defects' 'Lethal faciocardiomelic dysplasia' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' 'Lethal faciocardiomelic dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007 'Lethal faciocardiomelic dysplasia' SubClassOf 'Genetic syndrome with limb reduction defects' http://www.ebi.ac.uk/efo/EFO_1000496 Prolactin-Producing Pituitary Gland Adenoma 'Prolactin-Producing Pituitary Gland Adenoma' SubClassOf 'adenoma' 'Prolactin-Producing Pituitary Gland Adenoma' SubClassOf 'endocrine neoplasm' 'Prolactin-Producing Pituitary Gland Adenoma' SubClassOf 'brain neoplasm' 'Prolactin-Producing Pituitary Gland Adenoma' SubClassOf 'Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin' 'Prolactin-Producing Pituitary Gland Adenoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003430 'Prolactin-Producing Pituitary Gland Adenoma' SubClassOf 'Genetic gynecological tumor' 'Prolactin-Producing Pituitary Gland Adenoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017824 'Prolactin-Producing Pituitary Gland Adenoma' SubClassOf 'adenoma' 'Prolactin-Producing Pituitary Gland Adenoma' SubClassOf 'Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin' 'Prolactin-Producing Pituitary Gland Adenoma' SubClassOf 'endocrine neoplasm' 'Prolactin-Producing Pituitary Gland Adenoma' SubClassOf 'has_disease_location' some ('pituitary gland' or ('part_of' some 'pituitary gland')) http://www.orpha.net/ORDO/Orphanet_1973 Faciocardiorenal syndrome 'Faciocardiorenal syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Faciocardiorenal syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Faciocardiorenal syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Faciocardiorenal syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.ebi.ac.uk/efo/EFO_1000493 Primary Melanocytic Lesion of Meninges 'Primary Melanocytic Lesion of Meninges' SubClassOf 'Meningioma' 'Primary Melanocytic Lesion of Meninges' SubClassOf 'Meningioma' 'Primary Melanocytic Lesion of Meninges' SubClassOf 'has_disease_location' some ('meninx' or ('part_of' some 'meninx')) http://www.orpha.net/ORDO/Orphanet_1970 Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation 'Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation' SubClassOf 'Genetic syndrome with a Dandy-Walker malformation as major feature' 'Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation' SubClassOf 'Genetic syndrome with a Dandy-Walker malformation as major feature' 'Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 http://www.ebi.ac.uk/efo/EFO_1000494 Primary Peritoneal Serous Adenocarcinoma 'Primary Peritoneal Serous Adenocarcinoma' SubClassOf 'serous adenocarcinoma' 'Primary Peritoneal Serous Adenocarcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015686 'Primary Peritoneal Serous Adenocarcinoma' SubClassOf 'has_disease_location' some ('peritoneum' or ('part_of' some 'peritoneum')) 'Primary Peritoneal Serous Adenocarcinoma' SubClassOf 'serous adenocarcinoma' http://www.orpha.net/ORDO/Orphanet_79113 Mandibulofacial dysostosis-microcephaly syndrome 'Mandibulofacial dysostosis-microcephaly syndrome' SubClassOf 'Acrofacial dysostosis' 'Mandibulofacial dysostosis-microcephaly syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Mandibulofacial dysostosis-microcephaly syndrome' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Mandibulofacial dysostosis-microcephaly syndrome' SubClassOf 'Orofacial clefting syndrome' 'Mandibulofacial dysostosis-microcephaly syndrome' SubClassOf 'Acrofacial dysostosis' 'Mandibulofacial dysostosis-microcephaly syndrome' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Mandibulofacial dysostosis-microcephaly syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Mandibulofacial dysostosis-microcephaly syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 'Mandibulofacial dysostosis-microcephaly syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 'Mandibulofacial dysostosis-microcephaly syndrome' SubClassOf 'Orofacial clefting syndrome' 'Mandibulofacial dysostosis-microcephaly syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Mandibulofacial dysostosis-microcephaly syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 http://www.orpha.net/ORDO/Orphanet_363717 Alexander disease type I 'Alexander disease type I' SubClassOf 'Alexander disease' 'Alexander disease type I' SubClassOf 'Alexander disease' http://www.orpha.net/ORDO/Orphanet_314721 Atypical dentin dysplasia due to SMOC2 deficiency 'Atypical dentin dysplasia due to SMOC2 deficiency' SubClassOf 'Dentin dysplasia' 'Atypical dentin dysplasia due to SMOC2 deficiency' SubClassOf 'Dentin dysplasia type I' http://www.orpha.net/ORDO/Orphanet_93406 Syndactyly type 5 'Syndactyly type 5' SubClassOf 'Syndactyly' 'Syndactyly type 5' SubClassOf 'Syndactyly' http://www.orpha.net/ORDO/Orphanet_93405 Syndactyly type 4 'Syndactyly type 4' SubClassOf 'Syndactyly' 'Syndactyly type 4' SubClassOf 'Syndactyly' http://www.orpha.net/ORDO/Orphanet_79181 Disorder of histidine metabolism 'Disorder of histidine metabolism' SubClassOf 'Disorder of amino acid and other organic acid metabolism' 'Disorder of histidine metabolism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004736 'Disorder of histidine metabolism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004738 http://www.orpha.net/ORDO/Orphanet_93404 Syndactyly type 3 'Syndactyly type 3' SubClassOf 'Syndactyly' 'Syndactyly type 3' SubClassOf 'Syndactyly' http://www.orpha.net/ORDO/Orphanet_93403 Syndactyly type 2 'Syndactyly type 2' SubClassOf 'Syndactyly' 'Syndactyly type 2' SubClassOf 'Syndactyly' 'Syndactyly type 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021651 http://www.orpha.net/ORDO/Orphanet_93402 Syndactyly type 1 'Syndactyly type 1' SubClassOf 'Syndactyly' 'Syndactyly type 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000762 'Syndactyly type 1' SubClassOf 'Syndactyly' http://www.orpha.net/ORDO/Orphanet_93400 congenital sialidosis type II 'congenital sialidosis type II' SubClassOf 'sialidosis type II' 'congenital sialidosis type II' SubClassOf 'sialidosis type II' http://www.orpha.net/ORDO/Orphanet_1900 Ehlers-Danlos syndrome, kyphoscoliotic type 'Ehlers-Danlos syndrome, kyphoscoliotic type' SubClassOf 'Ehlers-Danlos syndrome' 'Ehlers-Danlos syndrome, kyphoscoliotic type' SubClassOf 'Connective tissue disease with eye involvement' 'Ehlers-Danlos syndrome, kyphoscoliotic type' SubClassOf 'Ehlers-Danlos syndrome' 'Ehlers-Danlos syndrome, kyphoscoliotic type' SubClassOf 'Connective tissue disease with eye involvement' 'Ehlers-Danlos syndrome, kyphoscoliotic type' SubClassOf 'autosomal recessive disease' 'Ehlers-Danlos syndrome, kyphoscoliotic type' SubClassOf 'Rare genetic neurological disorder' 'Ehlers-Danlos syndrome, kyphoscoliotic type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 'Ehlers-Danlos syndrome, kyphoscoliotic type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 http://purl.obolibrary.org/obo/HP_0001967 Diffuse mesangial sclerosis 'Diffuse mesangial sclerosis' SubClassOf 'Abnormality of the urinary system' 'Diffuse mesangial sclerosis' SubClassOf 'Abnormality of the urinary system' http://www.orpha.net/ORDO/Orphanet_79187 Disorder of peptide metabolism 'Disorder of peptide metabolism' SubClassOf 'Disorder of amino acid and other organic acid metabolism' 'Disorder of peptide metabolism' SubClassOf 'Disorder of amino acid and other organic acid metabolism' http://www.orpha.net/ORDO/Orphanet_79186 Disorder of pentose phosphate metabolism 'Disorder of pentose phosphate metabolism' SubClassOf 'Disorder of carbohydrate metabolism' 'Disorder of pentose phosphate metabolism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018605 http://www.orpha.net/ORDO/Orphanet_79189 Peroxisome biogenesis disorder-Zellweger syndrome spectrum 'Peroxisome biogenesis disorder-Zellweger syndrome spectrum' SubClassOf 'Rare hereditary metabolic disease with peripheral neuropathy' 'Peroxisome biogenesis disorder-Zellweger syndrome spectrum' SubClassOf 'Leukodystrophy' 'Peroxisome biogenesis disorder-Zellweger syndrome spectrum' SubClassOf 'Peroxisomal disease' 'Peroxisome biogenesis disorder-Zellweger syndrome spectrum' SubClassOf 'Neurometabolic disease' 'Peroxisome biogenesis disorder-Zellweger syndrome spectrum' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Peroxisome biogenesis disorder-Zellweger syndrome spectrum' SubClassOf 'Rare hereditary metabolic disease with peripheral neuropathy' 'Peroxisome biogenesis disorder-Zellweger syndrome spectrum' SubClassOf 'Leukodystrophy' 'Peroxisome biogenesis disorder-Zellweger syndrome spectrum' SubClassOf 'autosomal recessive disease' 'Peroxisome biogenesis disorder-Zellweger syndrome spectrum' SubClassOf 'Peroxisomal disease' 'Peroxisome biogenesis disorder-Zellweger syndrome spectrum' SubClassOf 'Neurometabolic disease' http://www.orpha.net/ORDO/Orphanet_79188 Peroxisomal beta-oxidation disorder 'Peroxisomal beta-oxidation disorder' SubClassOf 'Disorder of peroxisomal alpha-, beta- and omega-oxidation' 'Peroxisomal beta-oxidation disorder' SubClassOf 'Disorder of peroxisomal alpha-, beta- and omega-oxidation' http://www.orpha.net/ORDO/Orphanet_79183 Disorder of ketone body metabolism 'Disorder of ketone body metabolism' SubClassOf 'Disorder of fatty acid oxidation and ketone body metabolism' 'Disorder of ketone body metabolism' SubClassOf 'Disorder of fatty acid oxidation and ketone body metabolism' http://www.orpha.net/ORDO/Orphanet_79185 Disorder of ornithine or proline metabolism 'Disorder of ornithine or proline metabolism' SubClassOf 'Disorder of amino acid and other organic acid metabolism' 'Disorder of ornithine or proline metabolism' SubClassOf 'Disorder of amino acid and other organic acid metabolism' http://www.orpha.net/ORDO/Orphanet_363727 X-linked dyserythropoetic anemia with abnormal platelets and neutropenia 'X-linked dyserythropoetic anemia with abnormal platelets and neutropenia' SubClassOf 'Congenital dyserythropoietic anemia' 'X-linked dyserythropoetic anemia with abnormal platelets and neutropenia' SubClassOf 'Rare hemorrhagic disorder due to a constitutional thrombocytopenia' 'X-linked dyserythropoetic anemia with abnormal platelets and neutropenia' SubClassOf 'Congenital dyserythropoietic anemia' 'X-linked dyserythropoetic anemia with abnormal platelets and neutropenia' SubClassOf 'Inherited giant platelet disorder' http://www.orpha.net/ORDO/Orphanet_363741 Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome 'Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome' SubClassOf 'Syndromic obesity' 'Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome' SubClassOf 'Syndromic microphthalmia' 'Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome' SubClassOf 'Syndromic obesity' 'Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome' SubClassOf 'Rare genetic neurological disorder' 'Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome' SubClassOf 'Syndromic microphthalmia' http://purl.obolibrary.org/obo/CL_0000542 lymphocyte 'lymphocyte' SubClassOf 'located_in' some 'hematopoietic system' http://www.orpha.net/ORDO/Orphanet_79179 Disorder of glycerol metabolism 'Disorder of glycerol metabolism' SubClassOf 'Disorder of carbohydrate metabolism' 'Disorder of glycerol metabolism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0037807 'Disorder of glycerol metabolism' SubClassOf 'Disorder of carbohydrate metabolism' http://www.orpha.net/ORDO/Orphanet_1901 Ehlers-Danlos syndrome, dermatosparaxis type 'Ehlers-Danlos syndrome, dermatosparaxis type' SubClassOf 'Ehlers-Danlos syndrome' 'Ehlers-Danlos syndrome, dermatosparaxis type' SubClassOf 'Ehlers-Danlos syndrome' http://purl.obolibrary.org/obo/CL_0000540 neuron 'neuron' SubClassOf 'located_in' some ('peripheral nervous system' or 'central nervous system') http://www.orpha.net/ORDO/Orphanet_93420 FGFR3-related chondrodysplasia 'FGFR3-related chondrodysplasia' SubClassOf 'Rare bone disease related to a common gene or pathway defect' 'FGFR3-related chondrodysplasia' SubClassOf 'Rare bone disease related to a common gene or pathway defect' http://www.orpha.net/ORDO/Orphanet_79175 Disorder of gamma-aminobutyric acid metabolism 'Disorder of gamma-aminobutyric acid metabolism' SubClassOf 'Disorder of biogenic amine metabolism and transport' 'Disorder of gamma-aminobutyric acid metabolism' SubClassOf 'Disorder of biogenic amine metabolism and transport' 'Disorder of gamma-aminobutyric acid metabolism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004736 http://www.orpha.net/ORDO/Orphanet_79178 Glucose transport disorder 'Glucose transport disorder' SubClassOf 'Disorder of carbohydrate absorption and transport' 'Glucose transport disorder' SubClassOf 'Disorder of carbohydrate absorption and transport' http://www.orpha.net/ORDO/Orphanet_79177 Gluconeogenesis disorder 'Gluconeogenesis disorder' SubClassOf 'Disorder of carbohydrate metabolism' 'Gluconeogenesis disorder' SubClassOf 'glucose metabolism disease' 'Gluconeogenesis disorder' SubClassOf 'Disorder of carbohydrate metabolism' http://www.orpha.net/ORDO/Orphanet_79171 Disorder of cobalamin metabolism and transport 'Disorder of cobalamin metabolism and transport' SubClassOf 'Disorder of vitamin and non-protein cofactor absorption and transport ' 'Disorder of cobalamin metabolism and transport' SubClassOf 'Disorder of vitamin and non-protein cofactor absorption and transport ' 'Disorder of cobalamin metabolism and transport' SubClassOf 'participates_in' some ('cobalamin metabolic process' and ('has component' some 'abnormal')) http://www.orpha.net/ORDO/Orphanet_79174 Disorder of fatty acid oxidation and ketone body metabolism 'Disorder of fatty acid oxidation and ketone body metabolism' SubClassOf 'Disorder of energy metabolism' 'Disorder of fatty acid oxidation and ketone body metabolism' SubClassOf 'Disorder of energy metabolism' http://www.orpha.net/ORDO/Orphanet_79173 Disorder of methionine cycle and sulfur amino acid metabolism 'Disorder of methionine cycle and sulfur amino acid metabolism' SubClassOf 'Disorder of amino acid and other organic acid metabolism' 'Disorder of methionine cycle and sulfur amino acid metabolism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004736 'Disorder of methionine cycle and sulfur amino acid metabolism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0056803 http://www.orpha.net/ORDO/Orphanet_93426 Short rib dysplasia 'Short rib dysplasia' SubClassOf 'Primary bone dysplasia' 'Short rib dysplasia' SubClassOf 'Primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_93425 Filamin-related bone disorder 'Filamin-related bone disorder' SubClassOf 'Rare bone disease related to a common gene or pathway defect' 'Filamin-related bone disorder' SubClassOf 'Rare bone disease related to a common gene or pathway defect' http://www.orpha.net/ORDO/Orphanet_93424 Perlecan-related bone disorder 'Perlecan-related bone disorder' SubClassOf 'Rare bone disease related to a common gene or pathway defect' 'Perlecan-related bone disorder' SubClassOf 'Rare bone disease related to a common gene or pathway defect' http://www.orpha.net/ORDO/Orphanet_93423 Sulfation-related bone disorder 'Sulfation-related bone disorder' SubClassOf 'Rare bone disease related to a common gene or pathway defect' 'Sulfation-related bone disorder' SubClassOf 'Rare bone disease related to a common gene or pathway defect' http://www.orpha.net/ORDO/Orphanet_93422 Type 11 collagen-related bone disorder 'Type 11 collagen-related bone disorder' SubClassOf 'Rare bone disease related to a common gene or pathway defect' 'Type 11 collagen-related bone disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004603 'Type 11 collagen-related bone disorder' SubClassOf 'Rare bone disease related to a common gene or pathway defect' http://www.orpha.net/ORDO/Orphanet_93421 Type 2 collagen-related bone disorder 'Type 2 collagen-related bone disorder' SubClassOf 'Rare bone disease related to a common gene or pathway defect' 'Type 2 collagen-related bone disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004603 'Type 2 collagen-related bone disorder' SubClassOf 'Rare bone disease related to a common gene or pathway defect' http://purl.obolibrary.org/obo/CL_0000547 proerythroblast 'proerythroblast' SubClassOf 'located_in' some 'hematopoietic system' http://purl.obolibrary.org/obo/UBERON_0010285 midbrain basal plate 'midbrain basal plate' SubClassOf 'embryonic structure' 'midbrain basal plate' SubClassOf 'embryonic structure' 'midbrain basal plate' SubClassOf 'part_of' some 'embryonic structure' 'midbrain basal plate' SubClassOf 'part_of' some 'midbrain' 'midbrain basal plate' SubClassOf 'part_of' some 'primordium' http://purl.obolibrary.org/obo/HP_0001987 Hyperammonemia 'Hyperammonemia' SubClassOf 'Abnormality of nitrogen compound homeostasis' 'Hyperammonemia' SubClassOf 'Abnormality of nitrogen compound homeostasis' http://www.ebi.ac.uk/efo/EFO_0002811 3T3-F442A '3T3-F442A' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Mus musculus')))) http://www.orpha.net/ORDO/Orphanet_314701 Primary systemic amyloidosis 'Primary systemic amyloidosis' SubClassOf 'AL amyloidosis' 'Primary systemic amyloidosis' SubClassOf 'AL amyloidosis' http://www.ebi.ac.uk/efo/EFO_0002810 1205-Lu '1205-Lu' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) '1205-Lu' SubClassOf 'bearer_of' some 'melanoma' http://www.orpha.net/ORDO/Orphanet_93429 Multiple epiphyseal dysplasia and pseudoachondroplasia 'Multiple epiphyseal dysplasia and pseudoachondroplasia' SubClassOf 'Primary bone dysplasia' 'Multiple epiphyseal dysplasia and pseudoachondroplasia' SubClassOf 'Primary bone dysplasia' http://www.ebi.ac.uk/efo/EFO_0002813 ABC-1 'ABC-1' SubClassOf 'bearer_of' some 'lung adenocarcinoma' 'ABC-1' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0002812 AB2.2 'AB2.2' SubClassOf 'derives_from' some ('embryonic stem cell' and ('part_of' some ('organism part' and ('part_of' some 'Mus musculus')))) http://purl.obolibrary.org/obo/HP_0000664 Synophrys 'Synophrys' SubClassOf 'abnormality of the face' 'Synophrys' SubClassOf 'abnormality of the face' http://www.ebi.ac.uk/efo/EFO_0002815 BJAB 'BJAB' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'BJAB' SubClassOf 'bearer_of' some 'Burkitts lymphoma' http://www.ebi.ac.uk/efo/EFO_0002814 AZ-521 'AZ-521' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'AZ-521' SubClassOf 'bearer_of' some 'gastric carcinoma' http://www.ebi.ac.uk/efo/EFO_0002817 Caco-2/TC7 'Caco-2/TC7' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.orpha.net/ORDO/Orphanet_79169 Disorder of neurotransmitter metabolism and transport 'Disorder of neurotransmitter metabolism and transport' SubClassOf 'Disorder of biogenic amine metabolism and transport' 'Disorder of neurotransmitter metabolism and transport' SubClassOf 'Disorder of biogenic amine metabolism and transport' http://purl.obolibrary.org/obo/CL_0000553 megakaryocyte progenitor cell 'megakaryocyte progenitor cell' SubClassOf 'located_in' some 'hematopoietic system' http://www.ebi.ac.uk/efo/EFO_0002816 C3H10T1/2 'C3H10T1/2' SubClassOf 'derives_from' some ('fibroblast' and ('part_of' some ('embryo' and ('part_of' some 'Mus musculus')))) http://www.orpha.net/ORDO/Orphanet_79168 Disorder of bile acid synthesis 'Disorder of bile acid synthesis' SubClassOf 'Sterol metabolism disorder' 'Disorder of bile acid synthesis' SubClassOf 'Organic aciduria' 'Disorder of bile acid synthesis' SubClassOf 'Sterol metabolism disorder' http://www.ebi.ac.uk/efo/EFO_0002819 Calu3 'Calu3' SubClassOf 'bearer_of' some 'lung carcinoma' 'Calu3' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0002818 CADO ES1 'CADO ES1' SubClassOf 'bearer_of' some 'Ewing sarcoma' 'CADO ES1' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.orpha.net/ORDO/Orphanet_93430 Multiple metaphyseal dysplasia 'Multiple metaphyseal dysplasia' SubClassOf 'Primary bone dysplasia' 'Multiple metaphyseal dysplasia' SubClassOf 'Primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_79167 Disorder of urea cycle metabolism and ammonia detoxification 'Disorder of urea cycle metabolism and ammonia detoxification' SubClassOf 'Disorder of amino acid and other organic acid metabolism' 'Disorder of urea cycle metabolism and ammonia detoxification' SubClassOf 'Disorder of amino acid and other organic acid metabolism' http://www.orpha.net/ORDO/Orphanet_79166 Disorder of amino acid absorption and transport 'Disorder of amino acid absorption and transport' SubClassOf 'Disorder of amino acid and other organic acid metabolism' 'Disorder of amino acid absorption and transport' SubClassOf 'Disorder of amino acid and other organic acid metabolism' http://www.orpha.net/ORDO/Orphanet_79161 Disorder of carbohydrate metabolism 'Disorder of carbohydrate metabolism' SubClassOf 'Inborn errors of metabolism' 'Disorder of carbohydrate metabolism' SubClassOf 'Inborn errors of metabolism' 'Disorder of carbohydrate metabolism' SubClassOf ('has component' some 'abnormal') and ('participates_in' some 'metabolic process') 'Disorder of carbohydrate metabolism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0037792 http://www.orpha.net/ORDO/Orphanet_79163 Classic organic aciduria 'Classic organic aciduria' SubClassOf 'Organic aciduria' 'Classic organic aciduria' SubClassOf 'Organic aciduria' http://www.orpha.net/ORDO/Orphanet_93439 Bent bone dysplasia 'Bent bone dysplasia' SubClassOf 'Primary bone dysplasia' 'Bent bone dysplasia' SubClassOf 'Primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_93438 Mesomelic and rhizo-mesomelic dysplasia 'Mesomelic and rhizo-mesomelic dysplasia' SubClassOf 'Primary bone dysplasia' 'Mesomelic and rhizo-mesomelic dysplasia' SubClassOf 'Primary bone dysplasia' http://purl.obolibrary.org/obo/CHEBI_18401 phenylacetate 'phenylacetate' SubClassOf 'chemical entity' 'phenylacetate' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_93437 Acromesomelic dysplasia 'Acromesomelic dysplasia' SubClassOf 'Primary bone dysplasia' 'Acromesomelic dysplasia' SubClassOf 'Primary bone dysplasia' 'Acromesomelic dysplasia' SubClassOf 'osteochondrodysplasia' http://www.orpha.net/ORDO/Orphanet_93436 Acromelic dysplasia 'Acromelic dysplasia' SubClassOf 'Primary bone dysplasia' 'Acromelic dysplasia' SubClassOf 'Primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_93434 Spondylodysplastic dysplasia 'Spondylodysplastic dysplasia' SubClassOf 'Primary bone dysplasia' 'Spondylodysplastic dysplasia' SubClassOf 'Primary bone dysplasia' http://purl.obolibrary.org/obo/CL_0000558 reticulocyte 'reticulocyte' SubClassOf 'located_in' some 'hematopoietic system' http://www.orpha.net/ORDO/Orphanet_314718 Lethal arteriopathy syndrome due to fibulin-4 deficiency 'Lethal arteriopathy syndrome due to fibulin-4 deficiency' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Lethal arteriopathy syndrome due to fibulin-4 deficiency' SubClassOf 'vascular disease' http://purl.obolibrary.org/obo/CL_0000557 granulocyte monocyte progenitor cell 'granulocyte monocyte progenitor cell' SubClassOf 'located_in' some 'hematopoietic system' http://www.orpha.net/ORDO/Orphanet_1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria 'Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria' SubClassOf 'Mitochondrial DNA depletion syndrome, encephalomyopathic form' 'Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria' SubClassOf 'Mitochondrial DNA depletion syndrome, encephalomyopathic form' http://purl.obolibrary.org/obo/CL_0000556 megakaryocyte 'megakaryocyte' SubClassOf 'located_in' some 'hematopoietic system' http://www.orpha.net/ORDO/Orphanet_1930 Herpetic encephalitis 'Herpetic encephalitis' SubClassOf 'Genetic susceptibility to infections due to particular pathogens' 'Herpetic encephalitis' SubClassOf 'Rare genetic neurological disorder' 'Herpetic encephalitis' SubClassOf 'viral encephalitis' 'Herpetic encephalitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004609 'Herpetic encephalitis' SubClassOf 'Genetic susceptibility to infections due to particular pathogens' http://www.orpha.net/ORDO/Orphanet_1931 Frontal encephalocele 'Frontal encephalocele' SubClassOf 'Isolated encephalocele' 'Frontal encephalocele' SubClassOf 'Isolated encephalocele' http://purl.obolibrary.org/obo/HP_0001999 abnormal facial shape 'abnormal facial shape' SubClassOf 'abnormality of the face' 'abnormal facial shape' SubClassOf 'abnormality of the face' http://www.ebi.ac.uk/efo/EFO_0002800 SAEC 'SAEC' SubClassOf 'is_input_of' some 'ENCODE functional genome mapping' 'SAEC' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('organism part' and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_0002802 SK-N-SH_RA 'SK-N-SH_RA' SubClassOf 'bearer_of' some 'neuroblastoma' 'SK-N-SH_RA' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'organism')))) 'SK-N-SH_RA' SubClassOf 'is_input_of' some 'ENCODE functional genome mapping' http://www.ebi.ac.uk/efo/EFO_0002801 SKMC 'SKMC' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('skeletal muscle organ' and ('part_of' some 'Homo sapiens')))) 'SKMC' SubClassOf 'is_input_of' some 'ENCODE functional genome mapping' http://www.ebi.ac.uk/efo/EFO_0002804 TH-2 'TH-2' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'organism')))) 'TH-2' SubClassOf 'is_input_of' some 'ENCODE functional genome mapping' http://www.orpha.net/ORDO/Orphanet_1927 Emery-Nelson syndrome 'Emery-Nelson syndrome' SubClassOf 'Genetic syndrome with limb malformations as a major feature' 'Emery-Nelson syndrome' SubClassOf 'Genetic syndrome with limb malformations as a major feature' 'Emery-Nelson syndrome' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://www.ebi.ac.uk/efo/EFO_0002803 TH-1 'TH-1' SubClassOf 'is_input_of' some 'ENCODE functional genome mapping' 'TH-1' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'organism')))) http://www.orpha.net/ORDO/Orphanet_1928 Congenital lobar emphysema 'Congenital lobar emphysema' SubClassOf 'Genetic respiratory malformation' 'Congenital lobar emphysema' SubClassOf 'emphysema' 'Congenital lobar emphysema' SubClassOf 'Genetic respiratory malformation' 'Congenital lobar emphysema' SubClassOf 'Genetic respiratory or mediastinal malformation' http://www.ebi.ac.uk/efo/EFO_0002806 obsolete_retroperitoneum 'obsolete_retroperitoneum' SubClassOf 'obsolete class' 'obsolete_retroperitoneum' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79158 Cerebral organic aciduria 'Cerebral organic aciduria' SubClassOf 'Organic aciduria' 'Cerebral organic aciduria' SubClassOf 'brain disease' 'Cerebral organic aciduria' SubClassOf 'Organic aciduria' 'Cerebral organic aciduria' SubClassOf 'Rare genetic neurological disorder' http://www.ebi.ac.uk/efo/EFO_0002805 obsolete_pelvis 'obsolete_pelvis' SubClassOf 'obsolete class' 'obsolete_pelvis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_79157 2-methylbutyryl-CoA dehydrogenase deficiency '2-methylbutyryl-CoA dehydrogenase deficiency' SubClassOf 'Neurometabolic disease' '2-methylbutyryl-CoA dehydrogenase deficiency' SubClassOf 'Classic organic aciduria' '2-methylbutyryl-CoA dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016399 '2-methylbutyryl-CoA dehydrogenase deficiency' SubClassOf 'Cerebral organic aciduria' '2-methylbutyryl-CoA dehydrogenase deficiency' SubClassOf 'Neurometabolic disease' '2-methylbutyryl-CoA dehydrogenase deficiency' SubClassOf 'Classic organic aciduria' http://purl.obolibrary.org/obo/CLO_0033747 ND04424 'ND04424' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'ND04424' SubClassOf 'bearer_of' some 'Parkinson's disease' 'ND04424' SubClassOf 'has_quality' some 'male' 'ND04424' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0002808 4475 '4475' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('bone marrow' and ('part_of' some 'Mus musculus')))) http://www.orpha.net/ORDO/Orphanet_314709 Primary localized amyloidosis 'Primary localized amyloidosis' SubClassOf 'AL amyloidosis' 'Primary localized amyloidosis' SubClassOf 'AL amyloidosis' http://www.ebi.ac.uk/efo/EFO_0002807 4470 '4470' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('bone marrow' and ('part_of' some 'Mus musculus')))) http://www.orpha.net/ORDO/Orphanet_79159 Isobutyryl-CoA dehydrogenase deficiency 'Isobutyryl-CoA dehydrogenase deficiency' SubClassOf 'Syndrome associated with dilated cardiomyopathy' 'Isobutyryl-CoA dehydrogenase deficiency' SubClassOf 'Classic organic aciduria' 'Isobutyryl-CoA dehydrogenase deficiency' SubClassOf 'Syndrome associated with dilated cardiomyopathy' 'Isobutyryl-CoA dehydrogenase deficiency' SubClassOf 'Classic organic aciduria' http://www.orpha.net/ORDO/Orphanet_93442 Chondrodysplasia punctata 'Chondrodysplasia punctata' SubClassOf 'Primary bone dysplasia' 'Chondrodysplasia punctata' SubClassOf 'Primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_79154 2-aminoadipic 2-oxoadipic aciduria '2-aminoadipic 2-oxoadipic aciduria' SubClassOf 'Disorder of lysine and hydroxylysine metabolism' '2-aminoadipic 2-oxoadipic aciduria' SubClassOf 'Disorder of lysine and hydroxylysine metabolism' http://www.ebi.ac.uk/efo/EFO_0002809 4483 '4483' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('bone marrow' and ('part_of' some 'Mus musculus')))) http://www.orpha.net/ORDO/Orphanet_93441 Primary bone dysplasia with multiple joint dislocations 'Primary bone dysplasia with multiple joint dislocations' SubClassOf 'Primary bone dysplasia' 'Primary bone dysplasia with multiple joint dislocations' SubClassOf 'Primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_79153 Autosomal dominant nail dysplasia 'Autosomal dominant nail dysplasia' SubClassOf 'Isolated nail anomaly' 'Autosomal dominant nail dysplasia' SubClassOf 'Isolated nail anomaly' http://www.orpha.net/ORDO/Orphanet_93440 Slender bone dysplasia 'Slender bone dysplasia' SubClassOf 'Primary bone dysplasia' 'Slender bone dysplasia' SubClassOf 'Primary bone dysplasia' http://www.orpha.net/ORDO/Orphanet_79156 Seizures - intellectual disability due to hydroxylysinuria 'Seizures - intellectual disability due to hydroxylysinuria' SubClassOf 'Disorder of lysine and hydroxylysine metabolism' 'Seizures - intellectual disability due to hydroxylysinuria' SubClassOf 'Disorder of lysine and hydroxylysine metabolism' http://www.orpha.net/ORDO/Orphanet_79155 Encephalopathy due to hydroxykynureninuria 'Encephalopathy due to hydroxykynureninuria' SubClassOf 'Disorder of tryptophan metabolism' 'Encephalopathy due to hydroxykynureninuria' SubClassOf 'Neurometabolic disease' 'Encephalopathy due to hydroxykynureninuria' SubClassOf 'Disorder of tryptophan metabolism' 'Encephalopathy due to hydroxykynureninuria' SubClassOf 'Cerebral organic aciduria' 'Encephalopathy due to hydroxykynureninuria' SubClassOf 'Neurometabolic disease' http://www.orpha.net/ORDO/Orphanet_79150 Linear and whorled nevoid hypermelanosis 'Linear and whorled nevoid hypermelanosis' SubClassOf 'Genetic hyperpigmentation of the skin' 'Linear and whorled nevoid hypermelanosis' SubClassOf 'Becker nevus syndrome' 'Linear and whorled nevoid hypermelanosis' SubClassOf 'hamartoma' 'Linear and whorled nevoid hypermelanosis' SubClassOf 'Genetic hyperpigmentation of the skin' http://purl.obolibrary.org/obo/CHEBI_8871 risperidone 'risperidone' SubClassOf 'has_role' some 'serotonergic antagonist' 'risperidone' SubClassOf 'has_role' some 'antipsychotic drug' 'risperidone' SubClassOf 'has_role' some 'alpha-adrenergic antagonist' http://www.orpha.net/ORDO/Orphanet_79152 Disseminated superficial actinic porokeratosis 'Disseminated superficial actinic porokeratosis' SubClassOf 'porokeratosis' 'Disseminated superficial actinic porokeratosis' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0022202 http://www.orpha.net/ORDO/Orphanet_251028 2q33.1 microdeletion syndrome '2q33.1 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 2' '2q33.1 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 2' http://www.ebi.ac.uk/efo/EFO_0002831 MKN28 'MKN28' SubClassOf 'has_quality' some 'female' 'MKN28' SubClassOf 'bearer_of' some 'gastric adenocarcinoma' 'MKN28' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0002830 MKN1 'MKN1' SubClassOf 'bearer_of' some 'gastric carcinoma' 'MKN1' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0002832 MKN45 'MKN45' SubClassOf 'has_quality' some 'female' 'MKN45' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'MKN45' SubClassOf 'bearer_of' some 'gastric adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0002835 MRC5 'MRC5' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'organism')))) 'MRC5' SubClassOf 'has_quality' some 'male' 'MRC5' SubClassOf 'bearer_of' some 'normal' http://www.ebi.ac.uk/efo/EFO_0002834 MKN74 'MKN74' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'organism')))) 'MKN74' SubClassOf 'bearer_of' some 'gastric adenocarcinoma' 'MKN74' SubClassOf 'has_quality' some 'male' http://www.ebi.ac.uk/efo/EFO_0002837 MS428 'MS428' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'MS428' SubClassOf 'bearer_of' some 'malignant pleural mesothelioma' 'MS428' SubClassOf 'cancer cell line' http://www.ebi.ac.uk/efo/EFO_0002836 MS-1 'MS-1' SubClassOf 'bearer_of' some 'small cell lung carcinoma' 'MS-1' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'organism')))) http://purl.obolibrary.org/obo/CL_0000576 monocyte 'monocyte' SubClassOf 'located_in' some 'hematopoietic system' http://www.ebi.ac.uk/efo/EFO_0002839 MSTO-211H 'MSTO-211H' SubClassOf 'bearer_of' some 'mesothelioma' 'MSTO-211H' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'MSTO-211H' SubClassOf 'has_quality' some 'male' http://www.ebi.ac.uk/efo/EFO_0002838 MS589 'MS589' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'MS589' SubClassOf 'cancer cell line' 'MS589' SubClassOf 'bearer_of' some 'malignant pleural mesothelioma' http://www.orpha.net/ORDO/Orphanet_240371 Syndromic obesity 'Syndromic obesity' SubClassOf 'Genetic obesity' 'Syndromic obesity' SubClassOf 'Genetic obesity' 'Syndromic obesity' SubClassOf 'Genetic overgrowth/obesity syndrome' 'Syndromic obesity' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Syndromic obesity' EquivalentTo 'Genetic obesity' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021127) http://www.orpha.net/ORDO/Orphanet_251038 3q29 microduplication '3q29 microduplication' SubClassOf 'Partial duplication of the long arm of chromosome 3' '3q29 microduplication' SubClassOf 'Partial duplication of the long arm of chromosome 3' '3q29 microduplication' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000762 http://www.ebi.ac.uk/efo/EFO_0002820 CM7-1 'CM7-1' SubClassOf 'derives_from' some ('embryonic stem cell' and ('part_of' some ('organism part' and ('part_of' some 'Mus musculus')))) http://www.ebi.ac.uk/efo/EFO_0002822 D10.G4.1 'D10.G4.1' SubClassOf 'derives_from' some ('T cell' and ('part_of' some ('organism part' and ('part_of' some 'Mus musculus')))) http://www.ebi.ac.uk/efo/EFO_0002821 CTLL-2 'CTLL-2' SubClassOf 'derives_from' some ('T cell' and ('part_of' some ('organism part' and ('part_of' some 'Mus musculus')))) http://www.ebi.ac.uk/efo/EFO_0002824 HCT116 'HCT116' SubClassOf 'cancer cell line' 'HCT116' SubClassOf 'bearer_of' some 'colorectal adenocarcinoma' 'HCT116' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('colon' and ('part_of' some 'Homo sapiens')))) 'HCT116' SubClassOf 'colorectal cancer cell line' http://www.ebi.ac.uk/efo/EFO_0002823 obsolete_H69 'obsolete_H69' SubClassOf 'obsolete class' 'obsolete_H69' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002826 KS-IMM 'KS-IMM' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'organism')))) 'KS-IMM' SubClassOf 'bearer_of' some 'Kaposi's sarcoma' http://www.ebi.ac.uk/efo/EFO_0002825 obsolete_Jurkat 'obsolete_Jurkat' SubClassOf 'obsolete class' 'obsolete_Jurkat' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002828 Lu135 'Lu135' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'Lu135' SubClassOf 'bearer_of' some 'small cell lung carcinoma' http://www.orpha.net/ORDO/Orphanet_263004 Partial duplication of the long arm of chromosome 22 'Partial duplication of the long arm of chromosome 22' SubClassOf 'Partial autosomal trisomy/tetrasomy' 'Partial duplication of the long arm of chromosome 22' SubClassOf 'Partial autosomal trisomy/tetrasomy' http://purl.obolibrary.org/obo/CL_0000586 germ cell 'germ cell' SubClassOf 'located_in' some ('reproductive system' or 'plant reproductive system structure') http://www.ebi.ac.uk/efo/EFO_0002827 LC-1F 'LC-1F' SubClassOf 'bearer_of' some 'squamous cell lung carcinoma' 'LC-1F' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0002829 MIN6 'MIN6' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Mus musculus')))) http://www.orpha.net/ORDO/Orphanet_251004 Paternal uniparental disomy of chromosome 1 'Paternal uniparental disomy of chromosome 1' SubClassOf 'Uniparental disomy of paternal origin' 'Paternal uniparental disomy of chromosome 1' SubClassOf 'Uniparental disomy of paternal origin' http://www.ebi.ac.uk/efo/EFO_1000400 Non-Neoplastic Bile Duct Disorder 'Non-Neoplastic Bile Duct Disorder' SubClassOf 'biliary tract disease' 'Non-Neoplastic Bile Duct Disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002887 'Non-Neoplastic Bile Duct Disorder' SubClassOf 'endocrine system disease' 'Non-Neoplastic Bile Duct Disorder' SubClassOf 'has_disease_location' some ('bile duct' or ('part_of' some 'bile duct')) http://www.ebi.ac.uk/efo/EFO_1000401 Non-Seminomatous Lesion 'Non-Seminomatous Lesion' SubClassOf 'endocrine neoplasm' 'Non-Seminomatous Lesion' SubClassOf 'has_disease_location' some ('testis' or ('part_of' some 'testis')) 'Non-Seminomatous Lesion' SubClassOf 'neoplasm' http://www.ebi.ac.uk/efo/EFO_0002851 RERF-LC-KJ 'RERF-LC-KJ' SubClassOf 'bearer_of' some 'lung adenocarcinoma' 'RERF-LC-KJ' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0002850 RERF-LC-AI 'RERF-LC-AI' SubClassOf 'bearer_of' some 'squamous cell lung carcinoma' 'RERF-LC-AI' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0002853 RM 82 'RM 82' SubClassOf 'bearer_of' some 'Ewing sarcoma' 'RM 82' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0002852 RERF-LC-MS 'RERF-LC-MS' SubClassOf 'derives_from' some 'Japanese' 'RERF-LC-MS' SubClassOf 'bearer_of' some 'lung adenocarcinoma' 'RERF-LC-MS' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0002855 SBC-5 'SBC-5' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'SBC-5' SubClassOf 'bearer_of' some 'small cell lung carcinoma' http://www.ebi.ac.uk/efo/EFO_0002854 SBC-3 'SBC-3' SubClassOf 'bearer_of' some 'small cell lung carcinoma' 'SBC-3' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0002857 SHEP-SF 'SHEP-SF' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'SHEP-SF' SubClassOf 'bearer_of' some 'neuroblastoma' http://www.ebi.ac.uk/efo/EFO_1000408 Ossifying Fibromyxoid Tumor 'Ossifying Fibromyxoid Tumor' SubClassOf 'neoplasm' 'Ossifying Fibromyxoid Tumor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0037745 'Ossifying Fibromyxoid Tumor' SubClassOf 'neoplasm' http://www.ebi.ac.uk/efo/EFO_0002856 SCH 'SCH' SubClassOf 'bearer_of' some 'gastric carcinoma' 'SCH' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_1000409 Ossifying Renal Tumor of Infancy 'Ossifying Renal Tumor of Infancy' SubClassOf 'kidney neoplasm' 'Ossifying Renal Tumor of Infancy' SubClassOf 'has_disease_location' some ('kidney' or ('part_of' some 'kidney')) 'Ossifying Renal Tumor of Infancy' SubClassOf 'kidney neoplasm' http://www.ebi.ac.uk/efo/EFO_0002859 SK-N-AS 'SK-N-AS' SubClassOf 'bearer_of' some 'neuroblastoma' 'SK-N-AS' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('central nervous system' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_1000406 Odontogenic Cyst 'Odontogenic Cyst' SubClassOf 'neoplasm' 'Odontogenic Cyst' SubClassOf 'neoplasm' http://www.ebi.ac.uk/efo/EFO_0002858 SK-ES-1 'SK-ES-1' SubClassOf 'has_quality' some 'male' 'SK-ES-1' SubClassOf 'derives_from' some 'European' 'SK-ES-1' SubClassOf 'bearer_of' some 'Ewing sarcoma' 'SK-ES-1' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_1000407 Olfactory Neuroblastoma 'Olfactory Neuroblastoma' SubClassOf 'neuroblastoma' 'Olfactory Neuroblastoma' SubClassOf 'head and neck neoplasia' 'Olfactory Neuroblastoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002722 'Olfactory Neuroblastoma' SubClassOf 'neuroblastoma' 'Olfactory Neuroblastoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002749 'Olfactory Neuroblastoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003142 'Olfactory Neuroblastoma' SubClassOf 'has_disease_location' some ('olfactory epithelium' or ('part_of' some 'olfactory epithelium')) 'Olfactory Neuroblastoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002433 http://purl.obolibrary.org/obo/CL_0000598 pyramidal cell 'pyramidal cell' SubClassOf 'located_in' some 'central nervous system' http://www.ebi.ac.uk/efo/EFO_1000404 Ocular Melanoma with Extraocular Extension 'Ocular Melanoma with Extraocular Extension' SubClassOf 'eye neoplasm' 'Ocular Melanoma with Extraocular Extension' SubClassOf 'melanoma' 'Ocular Melanoma with Extraocular Extension' SubClassOf 'has_disease_location' some ('eye' or ('part_of' some 'eye')) 'Ocular Melanoma with Extraocular Extension' SubClassOf 'eye neoplasm' 'Ocular Melanoma with Extraocular Extension' SubClassOf 'Ocular Melanoma' 'Ocular Melanoma with Extraocular Extension' SubClassOf 'melanoma' http://www.ebi.ac.uk/efo/EFO_1000405 Ocular Sebaceous Carcinoma 'Ocular Sebaceous Carcinoma' SubClassOf 'adenocarcinoma' 'Ocular Sebaceous Carcinoma' SubClassOf 'eye neoplasm' 'Ocular Sebaceous Carcinoma' SubClassOf 'adenocarcinoma' 'Ocular Sebaceous Carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002466 'Ocular Sebaceous Carcinoma' SubClassOf 'eye neoplasm' 'Ocular Sebaceous Carcinoma' SubClassOf 'sebaceous adenocarcinoma' 'Ocular Sebaceous Carcinoma' SubClassOf 'has_disease_location' some ('eye' or ('part_of' some 'eye')) http://www.ebi.ac.uk/efo/EFO_1000402 Normal Breast-Like Subtype of Breast Carcinoma 'Normal Breast-Like Subtype of Breast Carcinoma' SubClassOf 'breast carcinoma' 'Normal Breast-Like Subtype of Breast Carcinoma' SubClassOf 'Breast Carcinoma by Gene Expression Profile' 'Normal Breast-Like Subtype of Breast Carcinoma' SubClassOf 'breast carcinoma' 'Normal Breast-Like Subtype of Breast Carcinoma' SubClassOf 'has_disease_location' some ('breast' or ('part_of' some 'breast')) http://www.ebi.ac.uk/efo/EFO_1000403 Ocular Melanoma 'Ocular Melanoma' SubClassOf 'melanoma' 'Ocular Melanoma' SubClassOf 'eye neoplasm' 'Ocular Melanoma' SubClassOf 'has_disease_location' some ('eye' or ('part_of' some 'eye')) 'Ocular Melanoma' SubClassOf 'melanoma' 'Ocular Melanoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002236 'Ocular Melanoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002120 'Ocular Melanoma' SubClassOf 'eye neoplasm' http://www.orpha.net/ORDO/Orphanet_79190 Disorder of phenylalanin or tyrosine metabolism 'Disorder of phenylalanin or tyrosine metabolism' SubClassOf 'Disorder of amino acid and other organic acid metabolism' 'Disorder of phenylalanin or tyrosine metabolism' SubClassOf 'Disorder of amino acid and other organic acid metabolism' http://www.orpha.net/ORDO/Orphanet_79192 Disorder of pyridoxine metabolism 'Disorder of pyridoxine metabolism' SubClassOf 'Disorder of biogenic amine metabolism and transport' 'Disorder of pyridoxine metabolism' SubClassOf 'Disorder of biogenic amine metabolism and transport' 'Disorder of pyridoxine metabolism' SubClassOf 'vitamin metabolic disorder' http://www.orpha.net/ORDO/Orphanet_79191 Disorder of purine metabolism 'Disorder of purine metabolism' SubClassOf 'Disorder of purine or pyrimidine metabolism' 'Disorder of purine metabolism' SubClassOf 'Disorder of purine or pyrimidine metabolism' 'Disorder of purine metabolism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0037829 http://www.orpha.net/ORDO/Orphanet_251014 2q31.1 microdeletion syndrome '2q31.1 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 2' '2q31.1 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 2' http://www.ebi.ac.uk/efo/EFO_1000411 Osteochondroma 'Osteochondroma' SubClassOf 'bone neoplasm' 'Osteochondroma' SubClassOf 'bone neoplasm' 'Osteochondroma' SubClassOf 'has_disease_location' some ('bone' or ('part_of' some 'bone')) http://www.ebi.ac.uk/efo/EFO_1000412 Ovarian Carcinosarcoma 'Ovarian Carcinosarcoma' SubClassOf 'ovarian carcinoma' 'Ovarian Carcinosarcoma' SubClassOf 'has_disease_location' some ('female gonad' or ('part_of' some 'female gonad')) 'Ovarian Carcinosarcoma' SubClassOf 'ovarian carcinoma' 'Ovarian Carcinosarcoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003812 'Ovarian Carcinosarcoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002928 http://www.ebi.ac.uk/efo/EFO_0002840 N231 'N231' SubClassOf 'bearer_of' some 'small cell lung carcinoma' 'N231' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_1000410 Osteoblastoma 'Osteoblastoma' SubClassOf 'bone neoplasm' 'Osteoblastoma' SubClassOf 'bone neoplasm' 'Osteoblastoma' SubClassOf 'has_disease_location' some ('bone' or ('part_of' some 'bone')) http://www.ebi.ac.uk/efo/EFO_0002842 PC-1 'PC-1' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0002841 NCI-N87 'NCI-N87' SubClassOf 'bearer_of' some 'gastric carcinoma' 'NCI-N87' SubClassOf 'has_quality' some 'male' 'NCI-N87' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0002844 PC-14 'PC-14' SubClassOf 'bearer_of' some 'lung adenocarcinoma' 'PC-14' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0002843 PC-10 'PC-10' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'PC-10' SubClassOf 'bearer_of' some 'squamous cell lung carcinoma' http://www.ebi.ac.uk/efo/EFO_0002846 PC-7 'PC-7' SubClassOf 'bearer_of' some 'lung adenocarcinoma' 'PC-7' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_1000419 Ovarian Germ Cell Tumor 'Ovarian Germ Cell Tumor' SubClassOf 'ovarian neoplasm' 'Ovarian Germ Cell Tumor' SubClassOf 'germ cell tumor' 'Ovarian Germ Cell Tumor' SubClassOf 'ovarian neoplasm' 'Ovarian Germ Cell Tumor' SubClassOf 'has_disease_location' some ('female gonad' or ('part_of' some 'female gonad')) 'Ovarian Germ Cell Tumor' SubClassOf 'germ cell tumor' 'Ovarian Germ Cell Tumor' SubClassOf 'has_disease_location' some 'germ cell' http://www.ebi.ac.uk/efo/EFO_0002845 PC-6 'PC-6' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'PC-6' SubClassOf 'bearer_of' some 'small cell lung carcinoma' http://www.ebi.ac.uk/efo/EFO_0002848 QG56 'QG56' SubClassOf 'bearer_of' some 'squamous cell lung carcinoma' 'QG56' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_1000417 Ovarian Endometrioid Adenocarcinoma with Squamous Differentiation 'Ovarian Endometrioid Adenocarcinoma with Squamous Differentiation' SubClassOf 'endometrium adenocarcinoma' 'Ovarian Endometrioid Adenocarcinoma with Squamous Differentiation' SubClassOf 'ovarian adenocarcinoma' 'Ovarian Endometrioid Adenocarcinoma with Squamous Differentiation' SubClassOf 'endometrium adenocarcinoma' 'Ovarian Endometrioid Adenocarcinoma with Squamous Differentiation' SubClassOf 'Ovarian Endometrioid Adenocarcinoma' 'Ovarian Endometrioid Adenocarcinoma with Squamous Differentiation' SubClassOf 'ovarian adenocarcinoma' 'Ovarian Endometrioid Adenocarcinoma with Squamous Differentiation' SubClassOf 'has_disease_location' some ('female gonad' or ('part_of' some 'female gonad')) http://www.ebi.ac.uk/efo/EFO_0002847 PC-9 'PC-9' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) 'PC-9' SubClassOf 'bearer_of' some 'lung adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_1000418 Ovarian Endometriosis 'Ovarian Endometriosis' SubClassOf 'endometriosis' 'Ovarian Endometriosis' SubClassOf 'ovarian disease' 'Ovarian Endometriosis' SubClassOf 'endometriosis' 'Ovarian Endometriosis' SubClassOf 'has_disease_location' some ('female gonad' or ('part_of' some 'female gonad')) 'Ovarian Endometriosis' SubClassOf 'ovarian disease' http://www.ebi.ac.uk/efo/EFO_1000415 Ovarian Embryonal Carcinoma 'Ovarian Embryonal Carcinoma' SubClassOf 'germ cell tumor' 'Ovarian Embryonal Carcinoma' SubClassOf 'embryonal carcinoma' 'Ovarian Embryonal Carcinoma' SubClassOf 'ovarian neoplasm' 'Ovarian Embryonal Carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016096 'Ovarian Embryonal Carcinoma' SubClassOf 'germ cell tumor' 'Ovarian Embryonal Carcinoma' SubClassOf 'embryonal carcinoma' 'Ovarian Embryonal Carcinoma' SubClassOf 'has_disease_location' some ('female gonad' or ('part_of' some 'female gonad')) http://www.ebi.ac.uk/efo/EFO_0002849 R11 'R11' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'R11' SubClassOf 'bearer_of' some 'glioblastoma multiforme' http://www.ebi.ac.uk/efo/EFO_1000416 Ovarian Endometrioid Adenocarcinoma 'Ovarian Endometrioid Adenocarcinoma' SubClassOf 'ovarian adenocarcinoma' 'Ovarian Endometrioid Adenocarcinoma' SubClassOf 'endometrium adenocarcinoma' 'Ovarian Endometrioid Adenocarcinoma' SubClassOf 'ovarian adenocarcinoma' 'Ovarian Endometrioid Adenocarcinoma' SubClassOf 'endometrium adenocarcinoma' 'Ovarian Endometrioid Adenocarcinoma' SubClassOf 'has_disease_location' some ('female gonad' or ('part_of' some 'female gonad')) 'Ovarian Endometrioid Adenocarcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003812 'Ovarian Endometrioid Adenocarcinoma' SubClassOf 'endometrioid carcinoma' http://www.ebi.ac.uk/efo/EFO_1000413 Ovarian Choriocarcinoma 'Ovarian Choriocarcinoma' SubClassOf 'ovarian neoplasm' 'Ovarian Choriocarcinoma' SubClassOf 'choriocarcinoma' 'Ovarian Choriocarcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018171 'Ovarian Choriocarcinoma' SubClassOf 'ovarian neoplasm' 'Ovarian Choriocarcinoma' SubClassOf 'has_disease_location' some ('female gonad' or ('part_of' some 'female gonad')) 'Ovarian Choriocarcinoma' SubClassOf 'choriocarcinoma' http://www.ebi.ac.uk/efo/EFO_1000414 Ovarian Dysgerminoma 'Ovarian Dysgerminoma' SubClassOf 'ovarian neoplasm' 'Ovarian Dysgerminoma' SubClassOf 'germ cell tumor' 'Ovarian Dysgerminoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003408 'Ovarian Dysgerminoma' SubClassOf 'germ cell tumor' 'Ovarian Dysgerminoma' SubClassOf 'has_disease_location' some ('female gonad' or ('part_of' some 'female gonad')) 'Ovarian Dysgerminoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003002 http://www.orpha.net/ORDO/Orphanet_79197 Disorder of branched-chain amino acid metabolism 'Disorder of branched-chain amino acid metabolism' SubClassOf 'Disorder of amino acid and other organic acid metabolism' 'Disorder of branched-chain amino acid metabolism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004736 http://www.orpha.net/ORDO/Orphanet_251009 Maternal uniparental disomy of chromosome 1 'Maternal uniparental disomy of chromosome 1' SubClassOf 'Uniparental disomy of maternal origin' 'Maternal uniparental disomy of chromosome 1' SubClassOf 'Uniparental disomy of maternal origin' http://www.orpha.net/ORDO/Orphanet_79194 Disorder of serine or glycine metabolism 'Disorder of serine or glycine metabolism' SubClassOf 'Disorder of amino acid and other organic acid metabolism' 'Disorder of serine or glycine metabolism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004736 http://www.orpha.net/ORDO/Orphanet_79193 Disorder of pyrimidine metabolism 'Disorder of pyrimidine metabolism' SubClassOf 'Disorder of purine or pyrimidine metabolism' 'Disorder of pyrimidine metabolism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0037937 'Disorder of pyrimidine metabolism' SubClassOf 'Disorder of purine or pyrimidine metabolism' http://www.orpha.net/ORDO/Orphanet_79196 Disorder of the gamma-glutamyl cycle 'Disorder of the gamma-glutamyl cycle' SubClassOf 'Disorder of amino acid and other organic acid metabolism' 'Disorder of the gamma-glutamyl cycle' SubClassOf 'Disorder of amino acid and other organic acid metabolism' http://www.orpha.net/ORDO/Orphanet_79195 Sterol biosynthesis disorder 'Sterol biosynthesis disorder' SubClassOf 'Sterol metabolism disorder' 'Sterol biosynthesis disorder' SubClassOf 'Developmental anomaly of metabolic origin' 'Sterol biosynthesis disorder' SubClassOf 'Sterol metabolism disorder' 'Sterol biosynthesis disorder' SubClassOf 'Developmental anomaly of metabolic origin' http://www.orpha.net/ORDO/Orphanet_251066 8p11.2 deletion syndrome '8p11.2 deletion syndrome' SubClassOf 'Partial deletion of the short arm of chromosome 8' '8p11.2 deletion syndrome' SubClassOf 'Partial deletion of the short arm of chromosome 8' http://www.ebi.ac.uk/efo/EFO_0002871 WB-F344 'WB-F344' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('liver' and ('part_of' some 'Rattus norvegicus')))) 'WB-F344' SubClassOf 'has_quality' some 'male' http://www.ebi.ac.uk/efo/EFO_1000422 Ovarian Gynandroblastoma 'Ovarian Gynandroblastoma' SubClassOf 'ovarian neoplasm' 'Ovarian Gynandroblastoma' SubClassOf 'ovarian neoplasm' 'Ovarian Gynandroblastoma' SubClassOf 'has_disease_location' some ('female gonad' or ('part_of' some 'female gonad')) http://www.ebi.ac.uk/efo/EFO_1001754 Abruptio Placentae 'Abruptio Placentae' SubClassOf 'female reproductive system disease' 'Abruptio Placentae' SubClassOf 'placenta disease' 'Abruptio Placentae' SubClassOf 'has_disease_location' some ('female reproductive system' or ('part_of' some 'female reproductive system')) 'Abruptio Placentae' SubClassOf 'reproductive system disease' http://www.ebi.ac.uk/efo/EFO_0002870 VH-64 'VH-64' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'VH-64' SubClassOf 'bearer_of' some 'Ewing sarcoma' http://www.ebi.ac.uk/efo/EFO_1000423 Ovarian Leydig Cell Tumor 'Ovarian Leydig Cell Tumor' SubClassOf 'ovarian neoplasm' 'Ovarian Leydig Cell Tumor' SubClassOf 'endocrine neoplasm' 'Ovarian Leydig Cell Tumor' SubClassOf 'has_disease_location' some 'Leydig cell' 'Ovarian Leydig Cell Tumor' SubClassOf 'has_disease_location' some ('female gonad' or ('part_of' some 'female gonad')) 'Ovarian Leydig Cell Tumor' SubClassOf 'ovarian neoplasm' http://www.ebi.ac.uk/efo/EFO_1001753 abdominal abscess 'abdominal abscess' SubClassOf 'abscess' 'abdominal abscess' SubClassOf 'has_disease_location' some ('abdomen' or ('part_of' some 'abdomen')) 'abdominal abscess' SubClassOf 'abscess' http://www.ebi.ac.uk/efo/EFO_0000210 obsolete_T lymphocyte 'obsolete_T lymphocyte' SubClassOf 'obsolete class' 'obsolete_T lymphocyte' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002873 WM793 'WM793' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'WM793' SubClassOf 'bearer_of' some 'melanoma' http://www.ebi.ac.uk/efo/EFO_1000420 Ovarian Gonadoblastoma 'Ovarian Gonadoblastoma' SubClassOf 'ovarian neoplasm' 'Ovarian Gonadoblastoma' SubClassOf 'ovarian neoplasm' 'Ovarian Gonadoblastoma' SubClassOf 'has_disease_location' some ('female gonad' or ('part_of' some 'female gonad')) http://www.ebi.ac.uk/efo/EFO_0000211 unspecified peripheral T-cell lymphoma 'unspecified peripheral T-cell lymphoma' SubClassOf 'lymphoma' 'unspecified peripheral T-cell lymphoma' SubClassOf 'neoplasm of mature T-cells or NK-cells' 'unspecified peripheral T-cell lymphoma' SubClassOf 'lymphoma' 'unspecified peripheral T-cell lymphoma' SubClassOf 'neoplasm of mature T-cells or NK-cells' http://www.ebi.ac.uk/efo/EFO_0002872 WE-68 'WE-68' SubClassOf 'bearer_of' some 'Ewing sarcoma' 'WE-68' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_1000421 Ovarian Granulosa Cell Tumor 'Ovarian Granulosa Cell Tumor' SubClassOf 'ovarian neoplasm' 'Ovarian Granulosa Cell Tumor' SubClassOf 'has_disease_location' some ('female gonad' or ('part_of' some 'female gonad')) 'Ovarian Granulosa Cell Tumor' SubClassOf 'ovarian neoplasm' http://www.ebi.ac.uk/efo/EFO_0000212 obsolete_Wilms tumor 'obsolete_Wilms tumor' SubClassOf 'obsolete class' 'obsolete_Wilms tumor' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002875 WM793-P2N1 'WM793-P2N1' SubClassOf 'bearer_of' some 'melanoma' 'WM793-P2N1' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0000213 obsolete_abdominal cavity 'obsolete_abdominal cavity' SubClassOf 'obsolete class' 'obsolete_abdominal cavity' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002874 WM793-P1N1 'WM793-P1N1' SubClassOf 'bearer_of' some 'melanoma' 'WM793-P1N1' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.orpha.net/ORDO/Orphanet_251061 7q31 microdeletion syndrome '7q31 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 7' '7q31 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 7' http://www.ebi.ac.uk/efo/EFO_0000214 obsolete_abdominal skin 'obsolete_abdominal skin' SubClassOf 'obsolete class' 'obsolete_abdominal skin' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002877 YCC10 'YCC10' SubClassOf 'bearer_of' some 'gastric carcinoma' 'YCC10' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0002876 YCC1 'YCC1' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'YCC1' SubClassOf 'bearer_of' some 'gastric carcinoma' http://www.ebi.ac.uk/efo/EFO_0000216 acinar cell carcinoma 'acinar cell carcinoma' SubClassOf 'carcinoma' 'acinar cell carcinoma' SubClassOf 'adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0002879 YCC16 'YCC16' SubClassOf 'bearer_of' some 'gastric carcinoma' 'YCC16' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0000217 gastritis 'gastritis' SubClassOf 'digestive system disease' 'gastritis' SubClassOf 'stomach disease' 'gastritis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021166 'gastritis' SubClassOf 'has_disease_location' only 'stomach' http://www.ebi.ac.uk/efo/EFO_0002878 YCC11 'YCC11' SubClassOf 'bearer_of' some 'gastric carcinoma' 'YCC11' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0000218 acute erythroleukemia 'acute erythroleukemia' SubClassOf 'acute myeloid leukemia' 'acute erythroleukemia' SubClassOf 'Inherited acute myeloid leukemia' 'acute erythroleukemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017858 'acute erythroleukemia' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0017858 and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) http://www.ebi.ac.uk/efo/EFO_1000428 Ovarian Serous Adenofibroma 'Ovarian Serous Adenofibroma' SubClassOf 'ovarian neoplasm' 'Ovarian Serous Adenofibroma' SubClassOf 'fibroma' 'Ovarian Serous Adenofibroma' SubClassOf 'has_disease_location' some ('female gonad' or ('part_of' some 'female gonad')) 'Ovarian Serous Adenofibroma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000646 'Ovarian Serous Adenofibroma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024886 'Ovarian Serous Adenofibroma' SubClassOf 'fibroma' http://www.ebi.ac.uk/efo/EFO_0000219 obsolete_acute lymphoblastic leukemia 'obsolete_acute lymphoblastic leukemia' SubClassOf 'obsolete class' 'obsolete_acute lymphoblastic leukemia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000429 Ovarian Sertoli-Leydig Cell Tumor 'Ovarian Sertoli-Leydig Cell Tumor' SubClassOf 'ovarian neoplasm' 'Ovarian Sertoli-Leydig Cell Tumor' SubClassOf 'endocrine neoplasm' 'Ovarian Sertoli-Leydig Cell Tumor' SubClassOf 'ovarian neoplasm' 'Ovarian Sertoli-Leydig Cell Tumor' SubClassOf 'has_disease_location' some 'Leydig cell' 'Ovarian Sertoli-Leydig Cell Tumor' SubClassOf 'has_disease_location' some ('female gonad' or ('part_of' some 'female gonad')) http://www.ebi.ac.uk/efo/EFO_1001759 alcohol amnestic disorder 'alcohol amnestic disorder' SubClassOf 'mental or behavioural disorder' 'alcohol amnestic disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001152 'alcohol amnestic disorder' SubClassOf 'mental or behavioural disorder' 'alcohol amnestic disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021698 http://www.ebi.ac.uk/efo/EFO_1000426 Ovarian Sclerosing Stromal Tumor 'Ovarian Sclerosing Stromal Tumor' SubClassOf 'ovarian neoplasm' 'Ovarian Sclerosing Stromal Tumor' SubClassOf 'ovarian neoplasm' 'Ovarian Sclerosing Stromal Tumor' SubClassOf 'has_disease_location' some ('female gonad' or ('part_of' some 'female gonad')) http://www.ebi.ac.uk/efo/EFO_1001758 ageusia 'ageusia' SubClassOf 'sensory system disease' 'ageusia' SubClassOf 'sensory system disease' http://www.ebi.ac.uk/efo/EFO_1000427 Ovarian Serous Adenocarcinofibroma 'Ovarian Serous Adenocarcinofibroma' SubClassOf 'ovarian neoplasm' 'Ovarian Serous Adenocarcinofibroma' SubClassOf 'ovarian neoplasm' 'Ovarian Serous Adenocarcinofibroma' SubClassOf 'has_disease_location' some ('female gonad' or ('part_of' some 'female gonad')) http://www.ebi.ac.uk/efo/EFO_1001757 Adenomyosis 'Adenomyosis' SubClassOf 'ovarian neoplasm' 'Adenomyosis' SubClassOf 'ovarian neoplasm' http://www.ebi.ac.uk/efo/EFO_1000424 Ovarian Microcystic Stromal Tumor 'Ovarian Microcystic Stromal Tumor' SubClassOf 'ovarian neoplasm' 'Ovarian Microcystic Stromal Tumor' SubClassOf 'has_disease_location' some ('female gonad' or ('part_of' some 'female gonad')) 'Ovarian Microcystic Stromal Tumor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024387 'Ovarian Microcystic Stromal Tumor' SubClassOf 'neoplasm' http://www.ebi.ac.uk/efo/EFO_1001756 Acrodynia 'Acrodynia' SubClassOf 'nervous system disease' 'Acrodynia' SubClassOf 'nervous system disease' http://www.ebi.ac.uk/efo/EFO_1000425 Ovarian Mixed Epithelial Tumor 'Ovarian Mixed Epithelial Tumor' SubClassOf 'ovarian neoplasm' 'Ovarian Mixed Epithelial Tumor' SubClassOf 'ovarian neoplasm' 'Ovarian Mixed Epithelial Tumor' SubClassOf 'has_disease_location' some ('female gonad' or ('part_of' some 'female gonad')) http://www.ebi.ac.uk/efo/EFO_1001755 accelerated phase myeloid leukemia 'accelerated phase myeloid leukemia' SubClassOf 'chronic myelogenous leukemia' 'accelerated phase myeloid leukemia' SubClassOf 'chronic myelogenous leukemia' http://www.orpha.net/ORDO/Orphanet_289601 Hereditary arterial and articular multiple calcification syndrome 'Hereditary arterial and articular multiple calcification syndrome' SubClassOf 'vascular disease' 'Hereditary arterial and articular multiple calcification syndrome' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Hereditary arterial and articular multiple calcification syndrome' SubClassOf 'has_disease_location' some 'artery' http://purl.obolibrary.org/obo/HP_0009053 Distal lower limb Muscle weakness 'Distal lower limb Muscle weakness' SubClassOf 'Distal Muscle weakness' 'Distal lower limb Muscle weakness' SubClassOf 'Distal Muscle weakness' http://www.orpha.net/ORDO/Orphanet_251076 8p23.1 microduplication syndrome '8p23.1 microduplication syndrome' SubClassOf 'Partial duplication of the short arm of chromosome 8' '8p23.1 microduplication syndrome' SubClassOf 'Partial duplication of the short arm of chromosome 8' http://purl.obolibrary.org/obo/NCBITaxon_40559 Botrytis cinerea 'Botrytis cinerea' SubClassOf 'Ascomycota' 'Botrytis cinerea' SubClassOf 'Ascomycota' http://www.ebi.ac.uk/efo/EFO_0002860 SK-N-MC 'SK-N-MC' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('brain' and ('part_of' some 'Homo sapiens')))) 'SK-N-MC' SubClassOf 'bearer_of' some 'Ewing sarcoma' http://www.ebi.ac.uk/efo/EFO_1000433 Ovarian Steroid Cell Tumor 'Ovarian Steroid Cell Tumor' SubClassOf 'ovarian neoplasm' 'Ovarian Steroid Cell Tumor' SubClassOf 'ovarian neoplasm' 'Ovarian Steroid Cell Tumor' SubClassOf 'has_disease_location' some ('female gonad' or ('part_of' some 'female gonad')) http://www.ebi.ac.uk/efo/EFO_1001765 Bovine mastitis 'Bovine mastitis' SubClassOf 'animal disease' 'Bovine mastitis' SubClassOf 'animal disease' http://www.ebi.ac.uk/efo/EFO_1000434 Ovarian Stromal Luteoma 'Ovarian Stromal Luteoma' SubClassOf 'ovarian neoplasm' 'Ovarian Stromal Luteoma' SubClassOf 'ovarian neoplasm' 'Ovarian Stromal Luteoma' SubClassOf 'has_disease_location' some ('female gonad' or ('part_of' some 'female gonad')) http://www.ebi.ac.uk/efo/EFO_1001764 Birnaviridae Infections 'Birnaviridae Infections' SubClassOf 'viral disease' 'Birnaviridae Infections' SubClassOf 'viral disease' http://www.ebi.ac.uk/efo/EFO_0002862 STA-ET-1 'STA-ET-1' SubClassOf 'bearer_of' some 'Ewing sarcoma' 'STA-ET-1' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_1000431 Ovarian Small Cell Carcinoma 'Ovarian Small Cell Carcinoma' SubClassOf 'ovarian carcinoma' 'Ovarian Small Cell Carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002481 'Ovarian Small Cell Carcinoma' SubClassOf 'small cell carcinoma' 'Ovarian Small Cell Carcinoma' SubClassOf 'ovarian carcinoma' 'Ovarian Small Cell Carcinoma' SubClassOf 'has_disease_location' some ('female gonad' or ('part_of' some 'female gonad')) http://www.ebi.ac.uk/efo/EFO_1001763 basal cell neoplasm 'basal cell neoplasm' SubClassOf 'neoplasm' 'basal cell neoplasm' SubClassOf 'neoplasm' 'basal cell neoplasm' SubClassOf 'has_disease_location' some 'basal cell' http://www.orpha.net/ORDO/Orphanet_251071 8p23.1 microdeletion syndrome '8p23.1 microdeletion syndrome' SubClassOf 'Syndromic urogenital tract malformation' '8p23.1 microdeletion syndrome' SubClassOf 'Partial deletion of the short arm of chromosome 8' '8p23.1 microdeletion syndrome' SubClassOf 'Syndromic urogenital tract malformation' '8p23.1 microdeletion syndrome' SubClassOf 'Partial deletion of the short arm of chromosome 8' http://www.ebi.ac.uk/efo/EFO_0000200 plasma cell neoplasm 'plasma cell neoplasm' SubClassOf 'neoplasm of mature B-cells' 'plasma cell neoplasm' SubClassOf 'neoplasm of mature B-cells' http://www.ebi.ac.uk/efo/EFO_0002861 SQ-5 'SQ-5' SubClassOf 'bearer_of' some 'squamous cell lung carcinoma' 'SQ-5' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_1000432 Ovarian Squamous Cell Carcinoma 'Ovarian Squamous Cell Carcinoma' SubClassOf 'squamous cell carcinoma' 'Ovarian Squamous Cell Carcinoma' SubClassOf 'ovarian carcinoma' 'Ovarian Squamous Cell Carcinoma' SubClassOf 'has_disease_location' some ('female gonad' or ('part_of' some 'female gonad')) 'Ovarian Squamous Cell Carcinoma' SubClassOf 'squamous cell carcinoma' 'Ovarian Squamous Cell Carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003495 'Ovarian Squamous Cell Carcinoma' SubClassOf 'ovarian carcinoma' http://www.ebi.ac.uk/efo/EFO_1001762 autonomic dysreflexia 'autonomic dysreflexia' SubClassOf 'neuropathy' 'autonomic dysreflexia' SubClassOf 'neuropathy' http://purl.obolibrary.org/obo/GO_0051649 establishment of localization in cell 'establishment of localization in cell' EquivalentTo 'establishment of localization' and ('occurs in' some 'cell') 'establishment of localization in cell' SubClassOf 'part_of' some 'cellular localization' http://www.ebi.ac.uk/efo/EFO_0000201 obsolete_precursor T lymphoblastic leukemia 'obsolete_precursor T lymphoblastic leukemia' SubClassOf 'obsolete class' 'obsolete_precursor T lymphoblastic leukemia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002864 T24 'T24' SubClassOf 'bearer_of' some 'bladder carcinoma' 'T24' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_1001761 Angiofibroma 'Angiofibroma' SubClassOf 'fibroma' 'Angiofibroma' SubClassOf 'fibroma' http://www.ebi.ac.uk/efo/EFO_0000202 obsolete_promyelocytic leukemia 'obsolete_promyelocytic leukemia' SubClassOf 'obsolete class' 'obsolete_promyelocytic leukemia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002863 STA-ET-2.1 'STA-ET-2.1' SubClassOf 'bearer_of' some 'Ewing sarcoma' 'STA-ET-2.1' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_1000430 Ovarian Sex Cord Tumor with Annular Tubules 'Ovarian Sex Cord Tumor with Annular Tubules' SubClassOf 'ovarian neoplasm' 'Ovarian Sex Cord Tumor with Annular Tubules' SubClassOf 'has_disease_location' some ('female gonad' or ('part_of' some 'female gonad')) 'Ovarian Sex Cord Tumor with Annular Tubules' SubClassOf 'ovarian neoplasm' http://www.ebi.ac.uk/efo/EFO_1001760 aneurysmal bone cyst 'aneurysmal bone cyst' SubClassOf 'bone disease' 'aneurysmal bone cyst' SubClassOf 'bone neoplasm' 'aneurysmal bone cyst' SubClassOf 'bone disease' http://www.ebi.ac.uk/efo/EFO_0000203 monoclonal gammopathy 'monoclonal gammopathy' SubClassOf 'hematologic disease' 'monoclonal gammopathy' SubClassOf 'hematologic disease' http://www.ebi.ac.uk/efo/EFO_0002866 TE85 'TE85' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'TE85' SubClassOf 'bearer_of' some 'osteosarcoma' http://www.ebi.ac.uk/efo/EFO_0000204 obsolete_Scott syndrome 'obsolete_Scott syndrome' SubClassOf 'obsolete class' 'obsolete_Scott syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002865 TC71 'TC71' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'TC71' SubClassOf 'bearer_of' some 'Ewing sarcoma' http://www.ebi.ac.uk/efo/EFO_0000205 stage I endometrioid carcinoma 'stage I endometrioid carcinoma' SubClassOf 'disease staging' 'stage I endometrioid carcinoma' SubClassOf http://purl.obolibrary.org/obo/mondo#part_of_progression_of_disease some 'endometrial carcinoma' http://www.ebi.ac.uk/efo/EFO_0002868 TT3E 'TT3E' SubClassOf 'derives_from' some ('Sertoli cell' and ('part_of' some ('organism part' and ('part_of' some 'Mus musculus')))) http://www.orpha.net/ORDO/Orphanet_300179 Ehlers-Danlos syndrome, kyphoscoliotic and deafness type 'Ehlers-Danlos syndrome, kyphoscoliotic and deafness type' SubClassOf 'Ehlers-Danlos syndrome' 'Ehlers-Danlos syndrome, kyphoscoliotic and deafness type' SubClassOf 'Ehlers-Danlos syndrome' http://www.ebi.ac.uk/efo/EFO_0000206 stage II endometrioid carcinoma 'stage II endometrioid carcinoma' SubClassOf 'disease staging' 'stage II endometrioid carcinoma' SubClassOf http://purl.obolibrary.org/obo/mondo#part_of_progression_of_disease some 'endometrial carcinoma' http://www.ebi.ac.uk/efo/EFO_0002867 TMK1 'TMK1' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'TMK1' SubClassOf 'bearer_of' some 'gastric carcinoma' http://www.ebi.ac.uk/efo/EFO_0000207 obsolete_T-cell lymphoblastic lymphoma 'obsolete_T-cell lymphoblastic lymphoma' SubClassOf 'obsolete class' 'obsolete_T-cell lymphoblastic lymphoma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000439 Pancreatic Acinar Cell Carcinoma 'Pancreatic Acinar Cell Carcinoma' SubClassOf 'acinar cell carcinoma' 'Pancreatic Acinar Cell Carcinoma' SubClassOf 'pancreatic carcinoma' 'Pancreatic Acinar Cell Carcinoma' SubClassOf 'pancreatic carcinoma' 'Pancreatic Acinar Cell Carcinoma' SubClassOf 'acinar cell carcinoma' 'Pancreatic Acinar Cell Carcinoma' SubClassOf 'pancreatic adenocarcinoma' 'Pancreatic Acinar Cell Carcinoma' SubClassOf 'has_disease_location' some 'acinar cell' 'Pancreatic Acinar Cell Carcinoma' SubClassOf 'has_disease_location' some ('pancreas' or ('part_of' some 'pancreas')) 'Pancreatic Acinar Cell Carcinoma' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://www.ebi.ac.uk/efo/EFO_0002869 U2OS 'U2OS' SubClassOf 'bearer_of' some 'osteosarcoma' 'U2OS' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('bone' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0000209 T-cell acute lymphoblastic leukemia 'T-cell acute lymphoblastic leukemia' SubClassOf 'acute lymphoblastic leukemia' 'T-cell acute lymphoblastic leukemia' SubClassOf 'acute lymphoblastic leukemia' http://www.ebi.ac.uk/efo/EFO_1000437 Ovarian Yolk Sac Tumor 'Ovarian Yolk Sac Tumor' SubClassOf 'ovarian neoplasm' 'Ovarian Yolk Sac Tumor' SubClassOf 'germ cell tumor' 'Ovarian Yolk Sac Tumor' SubClassOf 'endodermal sinus tumor' 'Ovarian Yolk Sac Tumor' SubClassOf 'has_disease_location' some ('yolk sac' or ('part_of' some 'yolk sac')) 'Ovarian Yolk Sac Tumor' SubClassOf 'has_disease_location' some ('female gonad' or ('part_of' some 'female gonad')) 'Ovarian Yolk Sac Tumor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016096 'Ovarian Yolk Sac Tumor' SubClassOf 'germ cell tumor' http://www.ebi.ac.uk/efo/EFO_1001769 carcinoid heart disease 'carcinoid heart disease' SubClassOf 'carcinoid tumor' 'carcinoid heart disease' SubClassOf 'has_disease_location' some ('heart' or ('part_of' some 'heart')) 'carcinoid heart disease' SubClassOf 'carcinoid tumor' http://www.ebi.ac.uk/efo/EFO_1000438 Palmar Fibromatosis 'Palmar Fibromatosis' SubClassOf 'fibromatosis' 'Palmar Fibromatosis' SubClassOf 'contracture' 'Palmar Fibromatosis' SubClassOf 'fibromatosis' 'Palmar Fibromatosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044990 'Palmar Fibromatosis' SubClassOf 'Superficial Fibromatosis' http://www.ebi.ac.uk/efo/EFO_1000435 Ovarian Transitional Cell Carcinoma 'Ovarian Transitional Cell Carcinoma' SubClassOf 'ovarian carcinoma' 'Ovarian Transitional Cell Carcinoma' SubClassOf 'Transitional Cell Carcinoma' 'Ovarian Transitional Cell Carcinoma' SubClassOf 'ovarian carcinoma' 'Ovarian Transitional Cell Carcinoma' SubClassOf 'has_disease_location' some ('female gonad' or ('part_of' some 'female gonad')) http://www.ebi.ac.uk/efo/EFO_1001767 brain stem neoplasm 'brain stem neoplasm' SubClassOf 'brain neoplasm' 'brain stem neoplasm' SubClassOf 'has_disease_location' some ('brainstem' or ('part_of' some 'brainstem')) 'brain stem neoplasm' SubClassOf 'brain neoplasm' http://www.ebi.ac.uk/efo/EFO_1000436 Ovarian Tumor of the Thecoma/Fibroma Group 'Ovarian Tumor of the Thecoma/Fibroma Group' SubClassOf 'ovarian neoplasm' 'Ovarian Tumor of the Thecoma/Fibroma Group' SubClassOf 'has_disease_location' some ('female gonad' or ('part_of' some 'female gonad')) 'Ovarian Tumor of the Thecoma/Fibroma Group' SubClassOf 'ovarian neoplasm' http://www.ebi.ac.uk/efo/EFO_1001766 brain hypoxia 'brain hypoxia' EquivalentTo 'has part' some ('quality' and ('has component' some 'abnormal') and ('inheres in part of' some 'brain')) http://purl.obolibrary.org/obo/HP_0009063 Progressive distal Muscle weakness 'Progressive distal Muscle weakness' SubClassOf 'Distal Muscle weakness' 'Progressive distal Muscle weakness' SubClassOf 'Distal Muscle weakness' http://www.orpha.net/ORDO/Orphanet_251043 Ring chromosome 5 'Ring chromosome 5' SubClassOf 'Ring chromosome' 'Ring chromosome 5' SubClassOf 'Ring chromosome' http://www.orpha.net/ORDO/Orphanet_251046 6p22 microdeletion syndrome '6p22 microdeletion syndrome' SubClassOf 'Partial deletion of the short arm of chromosome 6' '6p22 microdeletion syndrome' SubClassOf 'Partial deletion of the short arm of chromosome 6' http://purl.obolibrary.org/obo/HP_0011398 Central hypotonia 'Central hypotonia' SubClassOf 'Abnormality of muscle physiology' 'Central hypotonia' SubClassOf 'Abnormality of muscle physiology' http://www.ebi.ac.uk/efo/EFO_0002891 prostate derived cell line 'prostate derived cell line' EquivalentTo 'derives_from' some ('cell type' and ('part_of' some ('prostate gland' and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_0002890 renal carcinoma 'renal carcinoma' SubClassOf 'kidney neoplasm' 'renal carcinoma' SubClassOf 'carcinoma' 'renal carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002367 'renal carcinoma' EquivalentTo 'carcinoma' and ('has_disease_location' some 'kidney') 'renal carcinoma' SubClassOf 'has_disease_location' some 'kidney' 'renal carcinoma' SubClassOf 'carcinoma' http://www.ebi.ac.uk/efo/EFO_0000230 obsolete_adenohypophysis 'obsolete_adenohypophysis' SubClassOf 'obsolete class' 'obsolete_adenohypophysis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002893 choriocarcinoma 'choriocarcinoma' SubClassOf 'germ cell tumor' 'choriocarcinoma' SubClassOf 'has_disease_location' some 'uterus' 'choriocarcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002872 'choriocarcinoma' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://www.ebi.ac.uk/efo/EFO_1000444 Pancreatic Small Cell Neuroendocrine Carcinoma 'Pancreatic Small Cell Neuroendocrine Carcinoma' SubClassOf 'carcinoma' 'Pancreatic Small Cell Neuroendocrine Carcinoma' SubClassOf 'pancreatic neoplasm' 'Pancreatic Small Cell Neuroendocrine Carcinoma' SubClassOf 'small cell carcinoma' 'Pancreatic Small Cell Neuroendocrine Carcinoma' SubClassOf 'has_disease_location' some ('pancreas' or ('part_of' some 'pancreas')) 'Pancreatic Small Cell Neuroendocrine Carcinoma' SubClassOf 'pancreatic endocrine carcinoma' 'Pancreatic Small Cell Neuroendocrine Carcinoma' SubClassOf 'carcinoma' 'Pancreatic Small Cell Neuroendocrine Carcinoma' SubClassOf 'pancreatic neoplasm' http://www.ebi.ac.uk/efo/EFO_1001776 Chilaiditi Syndrome 'Chilaiditi Syndrome' SubClassOf 'digestive system disease' 'Chilaiditi Syndrome' SubClassOf 'digestive system disease' http://www.ebi.ac.uk/efo/EFO_0000231 adenoid cystic carcinoma 'adenoid cystic carcinoma' SubClassOf 'carcinoma' 'adenoid cystic carcinoma' SubClassOf 'adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0002892 thyroid carcinoma 'thyroid carcinoma' EquivalentTo 'carcinoma' and ('has_disease_location' some 'thyroid gland') http://www.ebi.ac.uk/efo/EFO_1000445 Pancreatic Vipoma 'Pancreatic Vipoma' SubClassOf 'has_disease_location' some ('pancreas' or ('part_of' some 'pancreas')) 'Pancreatic Vipoma' SubClassOf 'endocrine neoplasm' http://www.ebi.ac.uk/efo/EFO_1001775 cerebrospinal fluid otorrhea 'cerebrospinal fluid otorrhea' SubClassOf 'nervous system disease' 'cerebrospinal fluid otorrhea' SubClassOf 'nervous system disease' http://www.ebi.ac.uk/efo/EFO_0000232 adenoma 'adenoma' SubClassOf 'epithelial neoplasm' 'adenocarcinoma' DisjointWith 'adenoma' 'adenoma' SubClassOf 'epithelial neoplasm' http://www.ebi.ac.uk/efo/EFO_0002895 MKN7 'MKN7' SubClassOf 'bearer_of' some 'gastric adenocarcinoma' 'MKN7' SubClassOf 'has_quality' some 'male' 'MKN7' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_1000442 Pancreatic Large Cell Neuroendocrine Carcinoma 'Pancreatic Large Cell Neuroendocrine Carcinoma' SubClassOf 'large cell neuroendocrine carcinoma' 'Pancreatic Large Cell Neuroendocrine Carcinoma' SubClassOf 'pancreatic carcinoma' 'Pancreatic Large Cell Neuroendocrine Carcinoma' SubClassOf 'pancreatic endocrine carcinoma' 'Pancreatic Large Cell Neuroendocrine Carcinoma' SubClassOf 'large cell neuroendocrine carcinoma' 'Pancreatic Large Cell Neuroendocrine Carcinoma' SubClassOf 'pancreatic carcinoma' 'Pancreatic Large Cell Neuroendocrine Carcinoma' SubClassOf 'has_disease_location' some ('pancreas' or ('part_of' some 'pancreas')) http://www.ebi.ac.uk/efo/EFO_1001774 central nervous system venous angioma 'central nervous system venous angioma' SubClassOf 'vascular disease' 'central nervous system venous angioma' SubClassOf 'has_disease_location' some ('central nervous system' or ('part_of' some 'central nervous system')) 'central nervous system venous angioma' SubClassOf 'vascular disease' http://www.ebi.ac.uk/efo/EFO_0000233 adenosquamous lung carcinoma 'adenosquamous lung carcinoma' SubClassOf 'lung carcinoma' 'adenosquamous lung carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0056806 'adenosquamous lung carcinoma' SubClassOf 'Adenosquamous Carcinoma' 'adenosquamous lung carcinoma' SubClassOf 'has_disease_location' some 'lung' http://www.ebi.ac.uk/efo/EFO_0002894 amelanotic skin melanoma 'amelanotic skin melanoma' SubClassOf 'melanoma' 'amelanotic skin melanoma' SubClassOf 'amelanotic melanoma' 'amelanotic skin melanoma' SubClassOf 'cutaneous melanoma' http://www.ebi.ac.uk/efo/EFO_1000443 Pancreatic Precancerous Condition 'Pancreatic Precancerous Condition' SubClassOf 'pancreatic neoplasm' 'Pancreatic Precancerous Condition' SubClassOf 'has_disease_location' some ('pancreas' or ('part_of' some 'pancreas')) 'Pancreatic Precancerous Condition' SubClassOf 'pancreatic neoplasm' http://www.ebi.ac.uk/efo/EFO_1001773 Central Nervous System Helminthiasis 'Central Nervous System Helminthiasis' SubClassOf 'Helminthiasis' 'Central Nervous System Helminthiasis' SubClassOf 'Helminthiasis' http://www.ebi.ac.uk/efo/EFO_1000440 Pancreatic Gastrinoma 'Pancreatic Gastrinoma' SubClassOf 'has_disease_location' some ('pancreas' or ('part_of' some 'pancreas')) 'Pancreatic Gastrinoma' SubClassOf 'endocrine neoplasm' http://www.ebi.ac.uk/efo/EFO_1001772 Central Cord Syndrome 'Central Cord Syndrome' SubClassOf 'nervous system disease' 'Central Cord Syndrome' SubClassOf 'nervous system disease' http://www.ebi.ac.uk/efo/EFO_0000235 obsolete_adipose tissue MMHCC 'obsolete_adipose tissue MMHCC' SubClassOf 'obsolete class' 'obsolete_adipose tissue MMHCC' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002896 microRNA profiling by high throughput sequencing 'microRNA profiling by high throughput sequencing' SubClassOf 'has_participant' some 'high throughput sequencer' 'microRNA profiling by high throughput sequencing' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_1000441 Pancreatic Glucagonoma 'Pancreatic Glucagonoma' SubClassOf 'has_disease_location' some ('pancreas' or ('part_of' some 'pancreas')) 'Pancreatic Glucagonoma' SubClassOf 'endocrine neoplasm' http://www.ebi.ac.uk/efo/EFO_1001771 cardiac edema 'cardiac edema' SubClassOf 'heart disease' 'cardiac edema' SubClassOf 'heart disease' http://www.ebi.ac.uk/efo/EFO_0000236 obsolete_adipose tissue brown MMHCC 'obsolete_adipose tissue brown MMHCC' SubClassOf 'obsolete class' 'obsolete_adipose tissue brown MMHCC' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001770 Carcinoma, Lewis Lung 'Carcinoma, Lewis Lung' SubClassOf 'lung carcinoma' 'Carcinoma, Lewis Lung' SubClassOf 'lung carcinoma' http://www.ebi.ac.uk/efo/EFO_0000237 obsolete_adrenal cortex 'obsolete_adrenal cortex' SubClassOf 'obsolete class' 'obsolete_adrenal cortex' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000239 adrenal gland pheochromocytoma 'adrenal gland pheochromocytoma' SubClassOf 'adrenal gland neoplasm' 'adrenal gland pheochromocytoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021237 'adrenal gland pheochromocytoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021072 'adrenal gland pheochromocytoma' SubClassOf 'has_disease_location' some 'adrenal gland' http://www.ebi.ac.uk/efo/EFO_1000448 Papillary Cystic Neoplasm 'Papillary Cystic Neoplasm' SubClassOf 'neoplasm' 'Papillary Cystic Neoplasm' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021096 'Papillary Cystic Neoplasm' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021077 'Papillary Cystic Neoplasm' SubClassOf 'neoplasm' http://www.ebi.ac.uk/efo/EFO_1000449 Papillary Meningioma 'Papillary Meningioma' SubClassOf 'Meningioma' 'Papillary Meningioma' SubClassOf 'has_disease_location' some ('meninx' or ('part_of' some 'meninx')) 'Papillary Meningioma' SubClassOf 'Meningioma' http://www.ebi.ac.uk/efo/EFO_1001779 chronic myelomonocytic leukemia 'chronic myelomonocytic leukemia' SubClassOf 'leukemia' 'chronic myelomonocytic leukemia' SubClassOf 'leukemia' 'chronic myelomonocytic leukemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001014 'chronic myelomonocytic leukemia' SubClassOf 'Myelodysplastic/Myeloproliferative Neoplasm' 'chronic myelomonocytic leukemia' SubClassOf 'has modifier' some 'chronic' 'chronic myelomonocytic leukemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020077 http://www.ebi.ac.uk/efo/EFO_1000446 Pancreatoblastoma 'Pancreatoblastoma' SubClassOf 'pancreatic neoplasm' 'Pancreatoblastoma' SubClassOf 'pancreatic neoplasm' 'Pancreatoblastoma' SubClassOf 'has_disease_location' some ('pancreas' or ('part_of' some 'pancreas')) http://www.ebi.ac.uk/efo/EFO_1001778 chromosome-defective micronuclei 'chromosome-defective micronuclei' SubClassOf 'genetic disorder' 'chromosome-defective micronuclei' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_1000447 Papillary Craniopharyngioma 'Papillary Craniopharyngioma' SubClassOf 'brain neoplasm' 'Papillary Craniopharyngioma' SubClassOf 'brain neoplasm' 'Papillary Craniopharyngioma' SubClassOf 'has_disease_location' some ('pituitary gland' or ('part_of' some 'pituitary gland')) 'Papillary Craniopharyngioma' SubClassOf 'has_disease_location' some ('cranium' or ('part_of' some 'cranium')) 'Papillary Craniopharyngioma' SubClassOf 'has_disease_location' some ('brain' or ('part_of' some 'brain')) http://www.ebi.ac.uk/efo/EFO_1001777 chloracne 'chloracne' SubClassOf 'skin disease' 'chloracne' SubClassOf 'skin disease' http://www.orpha.net/ORDO/Orphanet_325448 Leydig cell hypoplasia due to LHB deficiency 'Leydig cell hypoplasia due to LHB deficiency' SubClassOf 'Leydig cell hypoplasia' 'Leydig cell hypoplasia due to LHB deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018555 'Leydig cell hypoplasia due to LHB deficiency' SubClassOf 'Leydig cell hypoplasia' http://www.orpha.net/ORDO/Orphanet_314795 SHOX-related short stature 'SHOX-related short stature' SubClassOf 'Mesomelic and rhizo-mesomelic dysplasia' 'SHOX-related short stature' SubClassOf 'Mesomelic and rhizo-mesomelic dysplasia' http://www.ebi.ac.uk/efo/EFO_0002880 YCC3 'YCC3' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'YCC3' SubClassOf 'bearer_of' some 'gastric carcinoma' http://www.ebi.ac.uk/efo/EFO_0002882 YCC7 'YCC7' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'YCC7' SubClassOf 'bearer_of' some 'gastric carcinoma' http://www.ebi.ac.uk/efo/EFO_1000455 Paranasal Sinus Schneiderian Papilloma 'Paranasal Sinus Schneiderian Papilloma' SubClassOf 'paranasal sinus neoplasm' 'Paranasal Sinus Schneiderian Papilloma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021078 'Paranasal Sinus Schneiderian Papilloma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000631 'Paranasal Sinus Schneiderian Papilloma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000382 'Paranasal Sinus Schneiderian Papilloma' SubClassOf 'has_disease_location' some ('respiratory system' or ('part_of' some 'respiratory system')) 'Paranasal Sinus Schneiderian Papilloma' SubClassOf 'paranasal sinus neoplasm' 'Paranasal Sinus Schneiderian Papilloma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000633 http://www.ebi.ac.uk/efo/EFO_1001787 experimental arthritis 'experimental arthritis' SubClassOf 'animal disease' 'experimental arthritis' SubClassOf 'animal disease' http://www.ebi.ac.uk/efo/EFO_0000220 acute lymphoblastic leukemia 'acute lymphoblastic leukemia' SubClassOf 'precursor lymphoblastic lymphoma/leukemia' 'acute lymphoblastic leukemia' SubClassOf 'neoplasm of immature B and T cells' 'acute lymphoblastic leukemia' SubClassOf 'precursor lymphoblastic lymphoma/leukemia' 'acute lymphoblastic leukemia' SubClassOf 'lymphoid leukemia' 'acute lymphoblastic leukemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020683 'acute lymphoblastic leukemia' SubClassOf 'neoplasm of immature B and T cells' 'acute lymphoblastic leukemia' SubClassOf 'non-Hodgkins lymphoma' http://www.ebi.ac.uk/efo/EFO_0002881 YCC6 'YCC6' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'YCC6' SubClassOf 'bearer_of' some 'gastric carcinoma' http://www.ebi.ac.uk/efo/EFO_1000456 Parathyroid Gland Carcinoma 'Parathyroid Gland Carcinoma' SubClassOf 'carcinoma' 'Parathyroid Gland Carcinoma' SubClassOf 'endocrine neoplasm' 'Parathyroid Gland Carcinoma' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Parathyroid Gland Carcinoma' SubClassOf 'adenocarcinoma' 'Parathyroid Gland Carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021311 'Parathyroid Gland Carcinoma' SubClassOf 'endocrine neoplasm' 'Parathyroid Gland Carcinoma' SubClassOf 'has_disease_location' some ('parathyroid' or ('part_of' some 'parathyroid')) 'Parathyroid Gland Carcinoma' SubClassOf 'carcinoma' http://www.ebi.ac.uk/efo/EFO_1001786 erythroplasia 'erythroplasia' SubClassOf 'neoplasm' 'erythroplasia' SubClassOf 'neoplasm' http://www.ebi.ac.uk/efo/EFO_0002884 mammary gland cell line 'mammary gland cell line' EquivalentTo 'derives_from' some ('cell type' and ('part_of' some ('mammary gland' and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_0000221 acute monocytic leukemia 'acute monocytic leukemia' SubClassOf 'acute myeloid leukemia' 'acute monocytic leukemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0011118 'acute monocytic leukemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004600 http://www.ebi.ac.uk/efo/EFO_1000453 Paraganglioma 'Paraganglioma' SubClassOf 'endocrine neoplasm' 'Paraganglioma' SubClassOf 'autonomic nervous system disease' 'Paraganglioma' SubClassOf 'endocrine neoplasm' 'Paraganglioma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002366 'Paraganglioma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021635 'Paraganglioma' SubClassOf 'neuroendocrine neoplasm' http://www.ebi.ac.uk/efo/EFO_1001785 diffuse esophageal spasm 'diffuse esophageal spasm' SubClassOf 'digestive system disease' http://www.ebi.ac.uk/efo/EFO_0000222 acute myeloid leukemia 'acute myeloid leukemia' SubClassOf 'myeloid neoplasm' 'acute myeloid leukemia' SubClassOf 'has_disease_location' some 'myeloid cell' 'acute myeloid leukemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004643 'acute myeloid leukemia' SubClassOf 'disease has feature' some http://purl.obolibrary.org/obo/MONDO_0002280 'acute myeloid leukemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020683 http://www.ebi.ac.uk/efo/EFO_0002883 haemopoietic system cell line 'haemopoietic system cell line' EquivalentTo 'derives_from' some ('cell type' and ('part_of' some ('hematopoietic system' and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_1000454 Paranasal Sinus Adenoid Cystic Carcinoma 'Paranasal Sinus Adenoid Cystic Carcinoma' SubClassOf 'paranasal sinus neoplasm' 'Paranasal Sinus Adenoid Cystic Carcinoma' SubClassOf 'adenoid cystic carcinoma' 'Paranasal Sinus Adenoid Cystic Carcinoma' SubClassOf 'paranasal sinus neoplasm' 'Paranasal Sinus Adenoid Cystic Carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000380 'Paranasal Sinus Adenoid Cystic Carcinoma' SubClassOf 'has_disease_location' some ('respiratory system' or ('part_of' some 'respiratory system')) 'Paranasal Sinus Adenoid Cystic Carcinoma' SubClassOf 'adenoid cystic carcinoma' http://www.ebi.ac.uk/efo/EFO_1001784 diffuse cutaneous Leishmaniasis 'diffuse cutaneous Leishmaniasis' SubClassOf 'cutaneous Leishmaniasis' 'diffuse cutaneous Leishmaniasis' SubClassOf 'cutaneous Leishmaniasis' http://www.ebi.ac.uk/efo/EFO_0002886 stem cell derived cell line 'stem cell derived cell line' EquivalentTo 'derives_from' some ('stem cell' and ('part_of' some (('developmental stage' or 'organism part') and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_0000223 acute myelomonocytic leukemia 'acute myelomonocytic leukemia' SubClassOf 'acute myeloid leukemia' 'acute myelomonocytic leukemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0011118 http://www.ebi.ac.uk/efo/EFO_1000451 Papillary Tumor of the Pineal Region 'Papillary Tumor of the Pineal Region' SubClassOf 'brain neoplasm' 'Papillary Tumor of the Pineal Region' SubClassOf 'has_disease_location' some ('pineal body' or ('part_of' some 'pineal body')) 'Papillary Tumor of the Pineal Region' SubClassOf 'brain neoplasm' http://www.ebi.ac.uk/efo/EFO_1001783 desmoplastic fibroma 'desmoplastic fibroma' SubClassOf 'fibroma' 'desmoplastic fibroma' SubClassOf 'fibroma' http://www.ebi.ac.uk/efo/EFO_0000224 acute promyelocytic leukemia 'acute promyelocytic leukemia' SubClassOf 'acute myeloid leukemia' 'acute promyelocytic leukemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020078 'acute promyelocytic leukemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0011118 http://www.ebi.ac.uk/efo/EFO_0002885 breast cancer cell line 'breast cancer cell line' EquivalentTo 'cultured cell' and ('bearer_of' some 'breast carcinoma') http://www.ebi.ac.uk/efo/EFO_1000452 Parachordoma 'Parachordoma' SubClassOf 'neoplasm' 'Parachordoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002380 'Parachordoma' SubClassOf 'neoplasm' http://www.ebi.ac.uk/efo/EFO_0002888 Homo sapiens cell line 'Homo sapiens cell line' EquivalentTo 'derives_from' some ('cell type' and ('part_of' some (('developmental stage' or 'organism part') and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0000225 acute quadriplegic myopathy 'acute quadriplegic myopathy' SubClassOf 'myopathy' 'acute quadriplegic myopathy' SubClassOf 'myopathy' 'acute quadriplegic myopathy' SubClassOf 'has_disease_location' some 'musculature' http://www.ebi.ac.uk/efo/EFO_1001781 Commotio Cordis 'Commotio Cordis' SubClassOf 'cardiac arrhythmia' 'Commotio Cordis' SubClassOf 'cardiac arrhythmia' http://www.ebi.ac.uk/efo/EFO_0002887 mouse cell line 'mouse cell line' EquivalentTo 'derives_from' some ('cell type' and ('part_of' some (('developmental stage' or 'organism part') and ('part_of' some 'Mus')))) http://www.ebi.ac.uk/efo/EFO_0000226 obsolete_adaxial cells 'obsolete_adaxial cells' SubClassOf 'obsolete class' 'obsolete_adaxial cells' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000450 Papillary Transitional Cell Carcinoma 'Papillary Transitional Cell Carcinoma' SubClassOf 'carcinoma' 'Papillary Transitional Cell Carcinoma' SubClassOf 'carcinoma' 'Papillary Transitional Cell Carcinoma' SubClassOf 'papillary carcinoma' 'Papillary Transitional Cell Carcinoma' SubClassOf 'Transitional Cell Carcinoma' http://www.ebi.ac.uk/efo/EFO_1001780 Chylothorax 'Chylothorax' SubClassOf 'lymphatic system disease' 'Chylothorax' SubClassOf 'lymphatic system disease' http://www.ebi.ac.uk/efo/EFO_0000227 obsolete_adductor mandibulae complex 'obsolete_adductor mandibulae complex' SubClassOf 'obsolete class' 'obsolete_adductor mandibulae complex' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000228 adenocarcinoma 'adenocarcinoma' SubClassOf 'carcinoma' 'adenocarcinoma' DisjointWith 'adenoma' 'adenocarcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024276 'adenocarcinoma' SubClassOf 'carcinoma' 'adenocarcinoma' SubClassOf 'has_disease_location' some 'epithelial cell' http://www.ebi.ac.uk/efo/EFO_0000229 obsolete_adenohypophyseal placode 'obsolete_adenohypophyseal placode' SubClassOf 'obsolete class' 'obsolete_adenohypophyseal placode' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000459 Parotid Gland Adenoid Cystic Carcinoma 'Parotid Gland Adenoid Cystic Carcinoma' SubClassOf 'adenoid cystic carcinoma' 'Parotid Gland Adenoid Cystic Carcinoma' SubClassOf 'digestive system disease' 'Parotid Gland Adenoid Cystic Carcinoma' SubClassOf 'head and neck neoplasia' 'Parotid Gland Adenoid Cystic Carcinoma' SubClassOf 'adenoid cystic carcinoma' 'Parotid Gland Adenoid Cystic Carcinoma' SubClassOf 'has_disease_location' some ('parotid gland' or ('part_of' some 'parotid gland')) 'Parotid Gland Adenoid Cystic Carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0045063 'Parotid Gland Adenoid Cystic Carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021331 http://www.ebi.ac.uk/efo/EFO_1000457 Parathyroid Hyperplasia 'Parathyroid Hyperplasia' SubClassOf 'hyperplasia' 'Parathyroid Hyperplasia' SubClassOf 'has_disease_location' some ('parathyroid' or ('part_of' some 'parathyroid')) 'Parathyroid Hyperplasia' SubClassOf 'hyperplasia' 'Parathyroid Hyperplasia' SubClassOf 'parathyroid disease' http://www.ebi.ac.uk/efo/EFO_1001789 familial apolipoprotein B hypobetalipoproteinemia 'familial apolipoprotein B hypobetalipoproteinemia' SubClassOf 'Hypobetalipoproteinemia' 'familial apolipoprotein B hypobetalipoproteinemia' SubClassOf 'Hypobetalipoproteinemia' http://www.ebi.ac.uk/efo/EFO_1000458 Parotid Gland Acinic Cell Carcinoma 'Parotid Gland Acinic Cell Carcinoma' SubClassOf 'acinar cell carcinoma' 'Parotid Gland Acinic Cell Carcinoma' SubClassOf 'parotid neoplasm' 'Parotid Gland Acinic Cell Carcinoma' SubClassOf 'has_disease_location' some ('parotid gland' or ('part_of' some 'parotid gland')) 'Parotid Gland Acinic Cell Carcinoma' SubClassOf 'acinar cell carcinoma' 'Parotid Gland Acinic Cell Carcinoma' SubClassOf 'parotid neoplasm' 'Parotid Gland Acinic Cell Carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021331 http://www.ebi.ac.uk/efo/EFO_1001788 Eye Burns 'Eye Burns' SubClassOf 'burn' 'Eye Burns' SubClassOf 'burn' http://www.ebi.ac.uk/efo/EFO_0002790 GM19240 'GM19240' SubClassOf 'has_quality' some 'female' 'GM19240' SubClassOf 'is_input_of' some 'ENCODE functional genome mapping' 'GM19240' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('blood' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/UBERON_0000934 ventral nerve cord 'ventral nerve cord' SubClassOf 'part_of' some 'central nervous system' http://www.ebi.ac.uk/efo/EFO_0001461 control 'cancer site' DisjointWith 'control' 'disease' DisjointWith 'control' 'disease staging' DisjointWith 'control' http://www.ebi.ac.uk/efo/EFO_0002792 HGF 'HGF' SubClassOf 'derives_from' some ('fibroblast' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'HGF' SubClassOf 'has_quality' some 'normal' 'HGF' SubClassOf 'is_input_of' some 'ENCODE functional genome mapping' http://www.ebi.ac.uk/efo/EFO_0001460 uninfected 'neoplasm' DisjointWith 'uninfected' 'digestive system disease' DisjointWith 'uninfected' 'immune system disease' DisjointWith 'uninfected' 'disease staging' DisjointWith 'uninfected' 'uninfected' DisjointWith 'ocular vascular disease' 'mental or behavioural disorder' DisjointWith 'uninfected' 'disease' DisjointWith 'uninfected' 'head and neck disorder' DisjointWith 'uninfected' 'hyperplasia' DisjointWith 'uninfected' 'metabolic disease' DisjointWith 'uninfected' 'reproductive system disease' DisjointWith 'uninfected' 'cardiovascular disease' DisjointWith 'uninfected' 'genetic disorder' DisjointWith 'uninfected' 'nervous system disease' DisjointWith 'uninfected' 'uninfected' DisjointWith 'parathyroid disease' 'respiratory system disease' DisjointWith 'uninfected' 'uninfected' DisjointWith 'rheumatic disease' 'cancer site' DisjointWith 'uninfected' 'skin disease' DisjointWith 'uninfected' http://www.ebi.ac.uk/efo/EFO_0002791 HeLa-S3 'HeLa-S3' SubClassOf 'bearer_of' some 'cervical adenocarcinoma' 'HeLa-S3' SubClassOf 'has_quality' some 'female' 'HeLa-S3' SubClassOf 'is_input_of' some 'ENCODE functional genome mapping' 'HeLa-S3' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('uterine cervix' and ('part_of' some 'Homo sapiens')))) http://www.orpha.net/ORDO/Orphanet_254930 Combined oxidative phosphorylation defect type 7 'Combined oxidative phosphorylation defect type 7' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Combined oxidative phosphorylation defect type 7' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000732 'Combined oxidative phosphorylation defect type 7' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' http://www.ebi.ac.uk/efo/EFO_0002794 HRE 'HRE' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('renal system' and ('part_of' some 'Homo sapiens')))) 'HRE' SubClassOf 'is_input_of' some 'ENCODE functional genome mapping' 'HRE' SubClassOf 'has_quality' some 'normal' http://www.ebi.ac.uk/efo/EFO_0002793 HL-60 'HL-60' SubClassOf 'has_quality' some 'female' 'HL-60' SubClassOf 'is_input_of' some 'ENCODE functional genome mapping' 'HL-60' SubClassOf 'derives_from' some ('lymphocyte' and ('part_of' some ('blood' and ('part_of' some 'Homo sapiens')))) 'HL-60' SubClassOf 'bearer_of' some 'acute promyelocytic leukemia' http://www.ebi.ac.uk/efo/EFO_0002796 Jurkat 'Jurkat' SubClassOf 'is_input_of' some 'ENCODE functional genome mapping' 'Jurkat' SubClassOf 'bearer_of' some 'T-cell acute lymphoblastic leukemia' 'Jurkat' SubClassOf 'derives_from' some ('T cell' and ('part_of' some ('blood' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0002795 HUVEC cell line 'HUVEC cell line' SubClassOf 'is_input_of' some 'ENCODE functional genome mapping' 'HUVEC cell line' SubClassOf 'derives_from' some ('HUVEC cell' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0002798 NB4 'NB4' SubClassOf 'bearer_of' some 'acute promyelocytic leukemia' 'NB4' SubClassOf 'is_input_of' some 'ENCODE functional genome mapping' 'NB4' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_0002797 LHSR 'LHSR' SubClassOf 'is_input_of' some 'ENCODE functional genome mapping' 'LHSR' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('prostate gland' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0002799 NHEK 'NHEK' SubClassOf 'is_input_of' some 'ENCODE functional genome mapping' 'NHEK' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'organism')))) http://www.orpha.net/ORDO/Orphanet_254925 Combined oxidative phosphorylation defect type 4 'Combined oxidative phosphorylation defect type 4' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Combined oxidative phosphorylation defect type 4' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Combined oxidative phosphorylation defect type 4' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000732 http://purl.obolibrary.org/obo/CHEBI_78060 docosahexaenoate 'docosahexaenoate' SubClassOf 'lipid' 'docosahexaenoate' SubClassOf 'lipid' http://purl.obolibrary.org/obo/UBERON_0000947 aorta 'aorta' SubClassOf 'blood vessel' 'aorta' SubClassOf http://purl.obolibrary.org/obo/UBERON_0013768 'aorta' SubClassOf http://purl.obolibrary.org/obo/UBERON_0003509 'aorta' SubClassOf http://purl.obolibrary.org/obo/UBERON_0003519 http://purl.obolibrary.org/obo/UBERON_0000945 stomach 'stomach' SubClassOf 'part_of' some 'digestive system' 'stomach' SubClassOf 'develops_from' some 'endoderm' http://www.ebi.ac.uk/efo/EFO_0002781 chorion cell line 'chorion cell line' EquivalentTo 'derives_from' some ('cell type' and ('part_of' some ('chorion' and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_0002780 obsolete_chorion 'obsolete_chorion' SubClassOf 'obsolete class' 'obsolete_chorion' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002783 GM06990 'GM06990' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('blood' and ('part_of' some 'Homo sapiens')))) 'GM06990' SubClassOf 'is_input_of' some 'ENCODE functional genome mapping' http://www.ebi.ac.uk/efo/EFO_0002782 glioblastoma H54 'glioblastoma H54' SubClassOf 'bearer_of' some 'glioblastoma multiforme' 'glioblastoma H54' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('brain' and ('part_of' some 'Homo sapiens')))) 'glioblastoma H54' SubClassOf 'is_input_of' some 'ENCODE functional genome mapping' http://purl.obolibrary.org/obo/UBERON_0000949 endocrine system 'endocrine system' DisjointWith 'hepatobiliary system' 'endocrine system' DisjointWith 'biliary system' 'endocrine system' DisjointWith http://purl.obolibrary.org/obo/UBERON_0002204 'endocrine system' DisjointWith 'hematopoietic system' 'endocrine system' DisjointWith 'integumental system' 'endocrine system' DisjointWith 'skeletal system' 'endocrine system' DisjointWith 'respiratory system' 'endocrine system' DisjointWith 'digestive system' 'endocrine system' DisjointWith 'circulatory system' 'endocrine system' DisjointWith 'immune system' 'endocrine system' DisjointWith http://purl.obolibrary.org/obo/UBERON_0004456 'endocrine system' DisjointWith http://purl.obolibrary.org/obo/UBERON_0002330 'endocrine system' DisjointWith 'reproductive system' 'endocrine system' DisjointWith 'nervous system' 'endocrine system' DisjointWith 'gustatory system' 'endocrine system' DisjointWith 'renal system' http://www.ebi.ac.uk/efo/EFO_0002785 GM12891 'GM12891' SubClassOf 'has_quality' some 'male' 'GM12891' SubClassOf 'is_input_of' some 'ENCODE functional genome mapping' 'GM12891' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('blood' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/UBERON_0000948 heart 'heart' SubClassOf 'develops_from' some 'heart tube' 'heart' SubClassOf 'part_of' some 'cardiovascular system' http://www.ebi.ac.uk/efo/EFO_0002784 GM12878 'GM12878' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('blood' and ('part_of' some 'Homo sapiens')))) 'GM12878' SubClassOf 'derives_from' some 'European' 'GM12878' SubClassOf 'is_input_of' some 'ENCODE functional genome mapping' 'GM12878' SubClassOf 'is_input_of' some 'HapMap haplotype mapping' 'GM12878' SubClassOf 'has_quality' some 'female' http://www.ebi.ac.uk/efo/EFO_0001456 DNA assay 'DNA assay' EquivalentTo 'assay' and ('realizes' some ('analyte role' and ('role_of' some 'DNA'))) http://www.ebi.ac.uk/efo/EFO_0002787 GM18507 'GM18507' SubClassOf 'derives_from' some ('lymphoblast' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'GM18507' SubClassOf 'is_input_of' some 'HapMap haplotype mapping' 'GM18507' SubClassOf 'has_quality' some 'male' 'GM18507' SubClassOf 'is_input_of' some 'ENCODE functional genome mapping' http://www.ebi.ac.uk/efo/EFO_0002786 GM12892 'GM12892' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('blood' and ('part_of' some 'Homo sapiens')))) 'GM12892' SubClassOf 'has_quality' some 'female' 'GM12892' SubClassOf 'is_input_of' some 'ENCODE functional genome mapping' http://www.ebi.ac.uk/efo/EFO_0001458 protein assay 'protein assay' EquivalentTo 'assay' and ('realizes' some ('analyte role' and ('role_of' some 'protein'))) http://www.ebi.ac.uk/efo/EFO_0002789 GM19239 'GM19239' SubClassOf 'has_quality' some 'male' 'GM19239' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('blood' and ('part_of' some 'Homo sapiens')))) 'GM19239' SubClassOf 'is_input_of' some 'ENCODE functional genome mapping' http://www.ebi.ac.uk/efo/EFO_0001457 RNA assay 'RNA assay' EquivalentTo 'assay' and ('realizes' some ('analyte role' and ('role_of' some 'RNA'))) http://www.ebi.ac.uk/efo/EFO_0002788 GM19238 'GM19238' SubClassOf 'is_input_of' some 'ENCODE functional genome mapping' 'GM19238' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('blood' and ('part_of' some 'Homo sapiens')))) 'GM19238' SubClassOf 'has_quality' some 'female' http://purl.obolibrary.org/obo/CHEBI_78075 icosenoate 'icosenoate' SubClassOf 'lipid' 'icosenoate' SubClassOf 'lipid' http://purl.obolibrary.org/obo/UBERON_0000956 cerebral cortex 'cerebral cortex' SubClassOf 'part_of' some 'cerebral hemisphere' http://purl.obolibrary.org/obo/UBERON_0000955 brain 'brain' SubClassOf 'part_of' some 'central nervous system' http://www.ebi.ac.uk/efo/EFO_0001485 obsolete_antibiotic 'obsolete_antibiotic' SubClassOf 'obsolete class' 'obsolete_antibiotic' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_254902 Renal tubulopathy - encephalopathy - liver failure 'Renal tubulopathy - encephalopathy - liver failure' SubClassOf 'Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes' 'Renal tubulopathy - encephalopathy - liver failure' SubClassOf 'Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes' 'Renal tubulopathy - encephalopathy - liver failure' SubClassOf http://purl.obolibrary.org/obo/MONDO_0007415 http://www.orpha.net/ORDO/Orphanet_254905 Isolated cytochrome C oxidase deficiency 'Isolated cytochrome C oxidase deficiency' SubClassOf 'Isolated oxidative phosphorylation complex disorder' 'Isolated cytochrome C oxidase deficiency' SubClassOf 'Isolated oxidative phosphorylation complex disorder' 'Isolated cytochrome C oxidase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000066 http://purl.obolibrary.org/obo/UBERON_0000964 cornea 'cornea' SubClassOf 'part_of' some 'head' 'cornea' SubClassOf 'part_of' some 'eye' 'cornea' SubClassOf 'develops_from' some 'eye' 'cornea' SubClassOf 'develops_from' some 'ectoderm' 'cornea' SubClassOf 'develops_from' some 'head' 'cornea' SubClassOf 'develops_from' some 'presumptive neural plate' 'cornea' SubClassOf 'develops_from' some 'primordium' http://www.orpha.net/ORDO/Orphanet_254920 Combined oxidative phosphorylation defect type 2 'Combined oxidative phosphorylation defect type 2' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Combined oxidative phosphorylation defect type 2' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Combined oxidative phosphorylation defect type 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000732 http://purl.obolibrary.org/obo/UBERON_0000966 retina 'retina' SubClassOf 'part_of' some 'eye' 'retina' SubClassOf 'part_of' some 'head' 'retina' SubClassOf 'develops_from' some 'presumptive neural plate' 'retina' SubClassOf 'develops_from' some 'primordium' 'retina' SubClassOf 'develops_from' some 'ectoderm' http://purl.obolibrary.org/obo/UBERON_0011607 hyomandibular cartilage 'hyomandibular cartilage' SubClassOf 'pharyngeal arch cartilage' 'hyomandibular cartilage' SubClassOf 'part_of' some 'skeleton' 'hyomandibular cartilage' SubClassOf 'pharyngeal arch cartilage' http://www.orpha.net/ORDO/Orphanet_254913 Isolated ATP synthase deficiency 'Isolated ATP synthase deficiency' SubClassOf 'Isolated oxidative phosphorylation complex disorder' 'Isolated ATP synthase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000732 'Isolated ATP synthase deficiency' SubClassOf 'Isolated oxidative phosphorylation complex disorder' 'Isolated ATP synthase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044971 http://www.orpha.net/ORDO/Orphanet_168572 Native American myopathy 'Native American myopathy' SubClassOf 'Orofacial clefting syndrome' 'Native American myopathy' SubClassOf 'Congenital myopathy' 'Native American myopathy' SubClassOf 'Orofacial clefting syndrome' 'Native American myopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 'Native American myopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Native American myopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018753 'Native American myopathy' SubClassOf 'Congenital myopathy' http://www.ebi.ac.uk/efo/EFO_0000170 obsolete_DEL cells 'obsolete_DEL cells' SubClassOf 'obsolete class' 'obsolete_DEL cells' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000172 obsolete_Daudi Burkitt's lymphoma cell line 'obsolete_Daudi Burkitt's lymphoma cell line' SubClassOf 'obsolete class' 'obsolete_Daudi Burkitt's lymphoma cell line' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000173 obsolete_Ewing family tumor 'obsolete_Ewing family tumor' SubClassOf 'obsolete class' 'obsolete_Ewing family tumor' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000174 Ewing sarcoma 'Ewing sarcoma' SubClassOf 'embryonal neoplasm' 'Ewing sarcoma' SubClassOf 'sarcoma' 'Ewing sarcoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021038 'Ewing sarcoma' SubClassOf 'sarcoma' http://purl.obolibrary.org/obo/NCBITaxon_336722 Zymoseptoria tritici IPO323 'Zymoseptoria tritici IPO323' SubClassOf 'Zymoseptoria tritici' 'Zymoseptoria tritici IPO323' SubClassOf 'Zymoseptoria tritici' http://www.ebi.ac.uk/efo/EFO_0000178 gastric carcinoma 'gastric carcinoma' SubClassOf 'carcinoma' 'gastric carcinoma' SubClassOf 'stomach neoplasm' 'gastric carcinoma' SubClassOf 'has_disease_location' some 'stomach' 'gastric carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001056 'gastric carcinoma' SubClassOf 'Digestive System Carcinoma' http://www.orpha.net/ORDO/Orphanet_168577 Hereditary cryohydrocytosis with reduced stomatin 'Hereditary cryohydrocytosis with reduced stomatin' SubClassOf 'Hereditary stomatocytosis' 'Hereditary cryohydrocytosis with reduced stomatin' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Hereditary cryohydrocytosis with reduced stomatin' SubClassOf 'Hereditary stomatocytosis' http://www.orpha.net/ORDO/Orphanet_168563 46,XY gonadal dysgenesis - motor and sensory neuropathy '46,XY gonadal dysgenesis - motor and sensory neuropathy' SubClassOf 'Syndrome with 46,XY disorder of sex development' '46,XY gonadal dysgenesis - motor and sensory neuropathy' SubClassOf 'Syndrome with disorder of sex development of gynecological interest' '46,XY gonadal dysgenesis - motor and sensory neuropathy' SubClassOf 'Syndrome with 46,XY disorder of sex development' '46,XY gonadal dysgenesis - motor and sensory neuropathy' SubClassOf 'Syndrome with disorder of sex development of gynecological interest' '46,XY gonadal dysgenesis - motor and sensory neuropathy' SubClassOf '46,XY complete gonadal dysgenesis' http://www.orpha.net/ORDO/Orphanet_168569 H syndrome 'H syndrome' SubClassOf 'Genetic hyperpigmentation of the skin' 'H syndrome' SubClassOf 'Inborn errors of metabolism' 'H syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 'H syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002977 'H syndrome' SubClassOf 'Developmental anomaly of metabolic origin' 'H syndrome' SubClassOf 'Genetic hyperpigmentation of the skin' 'H syndrome' SubClassOf 'Syndromic genetic deafness' 'H syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017841 'H syndrome' SubClassOf 'type I diabetes mellitus' http://www.ebi.ac.uk/efo/EFO_0000168 obsolete_CTL sensitivity 'obsolete_CTL sensitivity' SubClassOf 'obsolete class' 'obsolete_CTL sensitivity' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000169 obsolete_chronic lymphocytic leukemia 'obsolete_chronic lymphocytic leukemia' SubClassOf 'obsolete class' 'obsolete_chronic lymphocytic leukemia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_168566 Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3 'Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000732 http://www.ebi.ac.uk/efo/EFO_0000190 obsolete_lymphoblastic leukemia MOLT-4 'obsolete_lymphoblastic leukemia MOLT-4' SubClassOf 'obsolete class' 'obsolete_lymphoblastic leukemia MOLT-4' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000191 MALT lymphoma 'MALT lymphoma' SubClassOf 'lymphoma' 'MALT lymphoma' SubClassOf 'neoplasm of mature B-cells' 'MALT lymphoma' SubClassOf 'marginal zone B-cell lymphoma' 'MALT lymphoma' SubClassOf 'neoplasm of mature B-cells' http://www.ebi.ac.uk/efo/EFO_0000192 obsolete_MELAS syndrome 'obsolete_MELAS syndrome' SubClassOf 'obsolete class' 'obsolete_MELAS syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/UBERON_0000914 organismal segment 'organismal segment' SubClassOf 'part_of' some 'integumental system' http://www.ebi.ac.uk/efo/EFO_0000193 obsolete_MMHCC part 'obsolete_MMHCC part' SubClassOf 'obsolete class' 'obsolete_MMHCC part' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000194 obsolete_malignant peripheral nerve sheath tumor class 'obsolete_malignant peripheral nerve sheath tumor class' SubClassOf 'obsolete class' 'obsolete_malignant peripheral nerve sheath tumor class' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_168593 Sudden infant death - dysgenesis of the testes 'Sudden infant death - dysgenesis of the testes' SubClassOf 'Syndrome with 46,XY disorder of sex development' 'Sudden infant death - dysgenesis of the testes' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015118 'Sudden infant death - dysgenesis of the testes' SubClassOf 'Syndrome with 46,XY disorder of sex development' http://www.ebi.ac.uk/efo/EFO_0000195 metabolic syndrome 'metabolic syndrome' SubClassOf 'metabolic disease' 'metabolic syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'metabolic syndrome' SubClassOf 'metabolic disease' 'metabolic syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024297 'metabolic syndrome' SubClassOf 'realized_in' some ('disease course' and ('has part' some 'metabolic process')) http://www.ebi.ac.uk/efo/EFO_0000196 metastatic prostate cancer 'metastatic prostate cancer' SubClassOf 'prostate carcinoma' 'metastatic prostate cancer' SubClassOf 'has_disease_location' some 'prostate gland' 'metastatic prostate cancer' SubClassOf 'disease has feature' some http://purl.obolibrary.org/obo/MONDO_0024879 'metastatic prostate cancer' SubClassOf 'prostate carcinoma' http://www.ebi.ac.uk/efo/EFO_0000197 mucinous carcinoma 'mucinous carcinoma' SubClassOf 'adenocarcinoma' 'mucinous carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020596 'mucinous carcinoma' SubClassOf 'adenocarcinoma' 'mucinous carcinoma' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0024338 and 'adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0000198 myelodysplastic syndrome 'myelodysplastic syndrome' SubClassOf 'disease has feature' some 'myeloid neoplasm' 'myelodysplastic syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021058 'myelodysplastic syndrome' SubClassOf 'disease has feature' some http://purl.obolibrary.org/obo/MONDO_0021138 'myelodysplastic syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015756 http://purl.obolibrary.org/obo/UBERON_0000916 abdomen 'abdomen' SubClassOf 'part_of' some 'trunk' http://www.ebi.ac.uk/efo/EFO_0000199 oral squamous cell carcinoma 'oral squamous cell carcinoma' SubClassOf 'mouth neoplasm' 'oral squamous cell carcinoma' SubClassOf 'head and neck squamous cell carcinoma' 'oral squamous cell carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044710 'oral squamous cell carcinoma' SubClassOf 'has_disease_location' some 'mouth' 'oral squamous cell carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044925 http://purl.obolibrary.org/obo/UBERON_0000915 thoracic segment of trunk 'thoracic segment of trunk' SubClassOf 'part_of' some 'trunk' http://www.orpha.net/ORDO/Orphanet_168598 Brain demyelination due to methionine adenosyltransferase deficiency 'Brain demyelination due to methionine adenosyltransferase deficiency' SubClassOf 'Neurometabolic disease' 'Brain demyelination due to methionine adenosyltransferase deficiency' SubClassOf 'Disorder of methionine cycle and sulfur amino acid metabolism' 'Brain demyelination due to methionine adenosyltransferase deficiency' SubClassOf 'Neurometabolic disease' 'Brain demyelination due to methionine adenosyltransferase deficiency' SubClassOf 'Disorder of methionine cycle and sulfur amino acid metabolism' 'Brain demyelination due to methionine adenosyltransferase deficiency' SubClassOf 'Cerebral organic aciduria' http://www.orpha.net/ORDO/Orphanet_168583 Hereditary North American Indian childhood cirrhosis 'Hereditary North American Indian childhood cirrhosis' SubClassOf 'Progressive familial intrahepatic cholestasis' http://www.ebi.ac.uk/efo/EFO_0000181 head and neck squamous cell carcinoma 'head and neck squamous cell carcinoma' SubClassOf 'squamous cell carcinoma' 'head and neck squamous cell carcinoma' SubClassOf 'head and neck neoplasia' 'head and neck squamous cell carcinoma' SubClassOf 'neoplasm' and ('has_disease_location' some ('neck' or ('part_of' some 'neck'))) 'head and neck squamous cell carcinoma' SubClassOf 'squamous cell carcinoma' 'head and neck squamous cell carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002038 'head and neck squamous cell carcinoma' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'head and neck squamous cell carcinoma' SubClassOf 'neoplasm' and ('has_disease_location' some ('head' or ('part_of' some 'head'))) http://purl.obolibrary.org/obo/UBERON_0000925 endoderm 'endoderm' SubClassOf 'embryonic structure' 'endoderm' SubClassOf http://purl.obolibrary.org/obo/UBERON_0000923 'endoderm' SubClassOf 'part_of' some 'embryonic structure' 'endoderm' SubClassOf 'develops_from' some 'presumptive endoderm' 'endoderm' SubClassOf 'develops_from' some 'embryonic structure' http://www.ebi.ac.uk/efo/EFO_0000182 hepatocellular carcinoma 'hepatocellular carcinoma' SubClassOf 'carcinoma' 'hepatocellular carcinoma' SubClassOf 'liver neoplasm' 'hepatocellular carcinoma' SubClassOf 'has_disease_location' some 'liver' 'hepatocellular carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018532 http://purl.obolibrary.org/obo/UBERON_0000924 ectoderm 'ectoderm' SubClassOf 'embryonic structure' 'ectoderm' SubClassOf http://purl.obolibrary.org/obo/UBERON_0000923 'ectoderm' SubClassOf 'develops_from' some 'presumptive ectoderm' 'ectoderm' SubClassOf 'develops_from' some 'embryonic structure' 'ectoderm' SubClassOf 'part_of' some 'embryonic structure' http://www.ebi.ac.uk/efo/EFO_0000183 Hodgkins lymphoma 'Hodgkins lymphoma' SubClassOf 'lymphoma' 'Hodgkins lymphoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017343 'Hodgkins lymphoma' SubClassOf 'lymphoma' http://www.ebi.ac.uk/efo/EFO_0000184 obsolete_infiltrating ductal carcinoma 'obsolete_infiltrating ductal carcinoma' SubClassOf 'obsolete class' 'obsolete_infiltrating ductal carcinoma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/UBERON_0000922 embryo 'embryo' SubClassOf 'whole organism' http://www.ebi.ac.uk/efo/EFO_0000185 obsolete_infiltrating lobular carcinoma 'obsolete_infiltrating lobular carcinoma' SubClassOf 'obsolete class' 'obsolete_infiltrating lobular carcinoma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000186 invasive ductal carcinoma 'invasive ductal carcinoma' SubClassOf 'breast carcinoma' 'invasive ductal carcinoma' SubClassOf 'ductal adenocarcinoma' 'invasive ductal carcinoma' SubClassOf 'Invasive Breast Carcinoma' http://www.ebi.ac.uk/efo/EFO_0000187 Kaposi's sarcoma cell 'Kaposi's sarcoma cell' SubClassOf 'bearer_of' some 'disease' 'Kaposi's sarcoma cell' SubClassOf 'bearer_of' some 'Kaposi's sarcoma' http://purl.obolibrary.org/obo/UBERON_0000927 mesectoderm 'mesectoderm' SubClassOf 'embryonic structure' 'mesectoderm' SubClassOf 'develops_from' some 'embryonic structure' 'mesectoderm' SubClassOf 'part_of' some 'embryonic structure' 'mesectoderm' SubClassOf 'develops_from' some 'mesectoderm anlage' 'mesectoderm' SubClassOf http://purl.obolibrary.org/obo/UBERON_0000923 http://www.ebi.ac.uk/efo/EFO_0000188 obsolete_liver carcinoma 'obsolete_liver carcinoma' SubClassOf 'obsolete class' 'obsolete_liver carcinoma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/UBERON_0000926 mesoderm 'mesoderm' SubClassOf 'embryonic structure' 'mesoderm' SubClassOf http://purl.obolibrary.org/obo/UBERON_0000923 'mesoderm' SubClassOf 'develops_from' some 'embryonic structure' 'mesoderm' SubClassOf 'develops_from' some 'presumptive mesoderm' 'mesoderm' SubClassOf 'part_of' some 'embryonic structure' http://www.ebi.ac.uk/efo/EFO_0000189 obsolete_liver heptocellular carcinoma 'obsolete_liver heptocellular carcinoma' SubClassOf 'obsolete class' 'obsolete_liver heptocellular carcinoma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_168588 Hyperandrogenism due to cortisone reductase deficiency 'Hyperandrogenism due to cortisone reductase deficiency' SubClassOf 'Anomaly of puberty or/and menstrual cycle of genetic origin' 'Hyperandrogenism due to cortisone reductase deficiency' SubClassOf 'Adrenogenital syndrome' 'Hyperandrogenism due to cortisone reductase deficiency' SubClassOf 'Anomaly of puberty or/and menstrual cycle of genetic origin' 'Hyperandrogenism due to cortisone reductase deficiency' SubClassOf 'Disorder of lipid metabolism' 'Hyperandrogenism due to cortisone reductase deficiency' SubClassOf 'Adrenogenital syndrome' 'Hyperandrogenism due to cortisone reductase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044976 http://www.orpha.net/ORDO/Orphanet_314802 Short stature due to partial GHR deficiency 'Short stature due to partial GHR deficiency' SubClassOf 'Growth hormone insensitivity syndrome' 'Short stature due to partial GHR deficiency' SubClassOf 'pituitary dwarfism' 'Short stature due to partial GHR deficiency' SubClassOf 'Growth hormone insensitivity syndrome' http://purl.obolibrary.org/obo/HP_0001939 abnormality of metabolism/homeostasis 'abnormality of metabolism/homeostasis' EquivalentTo 'has part' some ('quality' and ('has component' some 'abnormal') and ('inheres in part of' some 'metabolic process')) http://purl.obolibrary.org/obo/UBERON_0035652 fibular nerve 'fibular nerve' SubClassOf 'nerve' 'fibular nerve' SubClassOf 'nerve' http://purl.obolibrary.org/obo/HP_0001933 Subcutaneous hemorrhage 'Subcutaneous hemorrhage' SubClassOf 'Vascular skin abnormality' 'Subcutaneous hemorrhage' SubClassOf 'Vascular skin abnormality' http://www.orpha.net/ORDO/Orphanet_314811 Short stature due to GHSR deficiency 'Short stature due to GHSR deficiency' SubClassOf 'Non-acquired pituitary hormone deficiency' 'Short stature due to GHSR deficiency' SubClassOf 'Non-acquired pituitary hormone deficiency' http://www.orpha.net/ORDO/Orphanet_168552 Spondylometaphyseal dysplasia - bowed forearms - facial dysmorphism 'Spondylometaphyseal dysplasia - bowed forearms - facial dysmorphism' SubClassOf 'Spondylometaphyseal dysplasia' 'Spondylometaphyseal dysplasia - bowed forearms - facial dysmorphism' SubClassOf 'Spondylometaphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_168558 46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency '46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency' SubClassOf '46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect' '46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency' SubClassOf 'Genetic chronic primary adrenal insufficiency' '46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency' SubClassOf '46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect' '46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency' SubClassOf 'Genetic chronic primary adrenal insufficiency' http://purl.obolibrary.org/obo/HP_0000618 Blindness 'Blindness' SubClassOf 'Visual impairment' 'Blindness' SubClassOf 'Visual impairment' http://purl.obolibrary.org/obo/HP_0001943 Hypoglycemia 'Hypoglycemia' EquivalentTo 'has part' some ('decreased concentration' and ('inheres_in' some 'blood') and ('has component' some 'pathological') and ('towards' some 'glucose')) http://www.orpha.net/ORDO/Orphanet_168555 Spondylometaphyseal dysplasia, A4 type 'Spondylometaphyseal dysplasia, A4 type' SubClassOf 'Spondylometaphyseal dysplasia' 'Spondylometaphyseal dysplasia, A4 type' SubClassOf 'Spondylometaphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_168549 Axial spondylometaphyseal dysplasia 'Axial spondylometaphyseal dysplasia' SubClassOf 'Spondylometaphyseal dysplasia' 'Axial spondylometaphyseal dysplasia' SubClassOf 'Spondylometaphyseal dysplasia' http://purl.obolibrary.org/obo/UBERON_0011683 adductor mandibulae 'adductor mandibulae' SubClassOf 'muscle of head' 'adductor mandibulae' SubClassOf http://purl.obolibrary.org/obo/UBERON_0011145 'adductor mandibulae' SubClassOf 'develops_from' some 'pharyngeal arch' 'adductor mandibulae' SubClassOf 'mandibular muscle' http://www.orpha.net/ORDO/Orphanet_168544 Spondylometaphyseal dysplasia, Golden type 'Spondylometaphyseal dysplasia, Golden type' SubClassOf 'Spondylometaphyseal dysplasia' 'Spondylometaphyseal dysplasia, Golden type' SubClassOf 'Spondylometaphyseal dysplasia' http://purl.obolibrary.org/obo/CHEBI_55430 1-O-hexadecyl-2-arachidonoyl-sn-glycero-3-phosphocholine '1-O-hexadecyl-2-arachidonoyl-sn-glycero-3-phosphocholine' SubClassOf 'phospholipid' '1-O-hexadecyl-2-arachidonoyl-sn-glycero-3-phosphocholine' SubClassOf 'phospholipid' http://purl.obolibrary.org/obo/UBERON_0000976 humerus 'humerus' SubClassOf 'limb bone' 'humerus' SubClassOf 'develops_from' some 'forelimb' 'humerus' SubClassOf 'part_of' some 'stylopod' 'humerus' SubClassOf http://purl.obolibrary.org/obo/UBERON_0003607 'humerus' SubClassOf 'part_of' some 'forelimb' 'humerus' SubClassOf http://purl.obolibrary.org/obo/UBERON_0003461 'humerus' SubClassOf 'develops_from' some 'stylopod' 'humerus' SubClassOf http://purl.obolibrary.org/obo/UBERON_0004250 http://www.orpha.net/ORDO/Orphanet_1980 Bilateral striopallidodentate calcinosis 'Bilateral striopallidodentate calcinosis' SubClassOf 'Genetic dementia' 'Bilateral striopallidodentate calcinosis' SubClassOf 'basal ganglia disease' 'Bilateral striopallidodentate calcinosis' SubClassOf 'Miscellaneous movement disorder due to genetic neurodegenerative disease' 'Bilateral striopallidodentate calcinosis' SubClassOf 'Genetic dementia' 'Bilateral striopallidodentate calcinosis' SubClassOf 'basal ganglia disease' 'Bilateral striopallidodentate calcinosis' SubClassOf 'Inborn errors of metabolism' 'Bilateral striopallidodentate calcinosis' SubClassOf 'Miscellaneous movement disorder due to genetic neurodegenerative disease' http://purl.obolibrary.org/obo/UBERON_0000979 tibia 'tibia' SubClassOf 'bone of lower extremity' 'tibia' SubClassOf 'develops_from' some 'zeugopod' 'tibia' SubClassOf 'part_of' some 'zeugopod' 'tibia' SubClassOf 'develops_from' some 'hindlimb' 'tibia' SubClassOf http://purl.obolibrary.org/obo/UBERON_0004251 'tibia' SubClassOf http://purl.obolibrary.org/obo/UBERON_0003608 'tibia' SubClassOf 'part_of' some 'hindlimb' http://purl.obolibrary.org/obo/UBERON_0000977 pleura 'pleura' SubClassOf 'develops_from' some 'endoderm' 'pleura' SubClassOf 'develops_from' some 'primordium' 'pleura' SubClassOf 'develops_from' some 'mesoderm' 'pleura' SubClassOf 'part_of' some 'respiratory system' 'pleura' SubClassOf 'develops_from' some 'digestive system' http://www.orpha.net/ORDO/Orphanet_1987 Femoral agenesis/hypoplasia 'Femoral agenesis/hypoplasia' SubClassOf 'Non-syndromic limb reduction defect' 'Femoral agenesis/hypoplasia' SubClassOf 'Non-syndromic limb reduction defect' http://www.orpha.net/ORDO/Orphanet_169826 Congenital vitamin K-dependent coagulation factors deficiency 'Congenital vitamin K-dependent coagulation factors deficiency' SubClassOf 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' 'Congenital vitamin K-dependent coagulation factors deficiency' SubClassOf 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' http://www.orpha.net/ORDO/Orphanet_1988 Femoral-facial syndrome 'Femoral-facial syndrome' SubClassOf 'Genetic syndrome with limb reduction defects' 'Femoral-facial syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Femoral-facial syndrome' SubClassOf 'Orofacial clefting syndrome' 'Femoral-facial syndrome' SubClassOf 'Genetic syndrome with limb reduction defects' 'Femoral-facial syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Femoral-facial syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 'Femoral-facial syndrome' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' 'Femoral-facial syndrome' SubClassOf 'Orofacial clefting syndrome' http://www.orpha.net/ORDO/Orphanet_1986 Gollop-Wolfgang complex 'Gollop-Wolfgang complex' SubClassOf 'Dysostosis with combined reduction defects of upper and lower limbs' 'Gollop-Wolfgang complex' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Gollop-Wolfgang complex' SubClassOf 'Genetic syndrome with limb reduction defects' 'Gollop-Wolfgang complex' SubClassOf 'Dysostosis with combined reduction defects of upper and lower limbs' 'Gollop-Wolfgang complex' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Gollop-Wolfgang complex' SubClassOf 'Genetic syndrome with limb reduction defects' http://purl.obolibrary.org/obo/UBERON_0010302 amnioserosa 'amnioserosa' SubClassOf 'animal component' 'amnioserosa' SubClassOf http://purl.obolibrary.org/obo/UBERON_0010303 http://purl.obolibrary.org/obo/UBERON_0011634 ectopterygoid 'ectopterygoid' SubClassOf http://purl.obolibrary.org/obo/UBERON_0012071 'ectopterygoid' SubClassOf http://purl.obolibrary.org/obo/UBERON_0011597 http://www.orpha.net/ORDO/Orphanet_399775 Male infertility with spermatogenesis disorder 'Male infertility with spermatogenesis disorder' SubClassOf 'Male infertility due to sperm disorder' 'Male infertility with spermatogenesis disorder' SubClassOf 'Male infertility due to sperm disorder' http://www.orpha.net/ORDO/Orphanet_79224 Disorder of purine or pyrimidine metabolism 'Disorder of purine or pyrimidine metabolism' SubClassOf 'Inborn errors of metabolism' 'Disorder of purine or pyrimidine metabolism' SubClassOf 'Inborn errors of metabolism' http://www.orpha.net/ORDO/Orphanet_79226 Sterol metabolism disorder 'Sterol metabolism disorder' SubClassOf 'Disorder of lipid metabolism' 'Sterol metabolism disorder' SubClassOf 'Disorder of lipid metabolism' 'Sterol metabolism disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0045012 http://www.orpha.net/ORDO/Orphanet_79225 Sphingolipidosis 'Sphingolipidosis' SubClassOf 'Lipid storage disease' 'Sphingolipidosis' SubClassOf 'Lipid storage disease' http://www.orpha.net/ORDO/Orphanet_1979 Lipodystrophy due to peptidic growth factors deficiency 'Lipodystrophy due to peptidic growth factors deficiency' SubClassOf 'Genetic lipodystrophy' 'Lipodystrophy due to peptidic growth factors deficiency' SubClassOf 'Genetic lipodystrophy' http://www.orpha.net/ORDO/Orphanet_157846 Neuroferritinopathy 'Neuroferritinopathy' SubClassOf 'Neurodegeneration with brain iron accumulation' 'Neuroferritinopathy' SubClassOf 'Disorder of iron metabolism and transport' 'Neuroferritinopathy' SubClassOf 'Huntington disease-like syndrome' 'Neuroferritinopathy' SubClassOf 'Neurodegeneration with brain iron accumulation' 'Neuroferritinopathy' SubClassOf 'Disorder of iron metabolism and transport' 'Neuroferritinopathy' SubClassOf 'Huntington disease-like syndrome' http://purl.obolibrary.org/obo/UBERON_0000972 antenna 'antenna' SubClassOf 'appendage' 'antenna' SubClassOf 'part_of' some 'head' 'antenna' SubClassOf 'appendage' http://purl.obolibrary.org/obo/UBERON_0000970 eye 'eye' SubClassOf 'part_of' some 'sensory system' http://www.orpha.net/ORDO/Orphanet_399771 Male infertility due to sperm disorder 'Male infertility due to sperm disorder' SubClassOf 'Male infertility due to gonadal dysgenesis or sperm disorder' 'Male infertility due to sperm disorder' SubClassOf 'Male infertility due to gonadal dysgenesis or sperm disorder' http://purl.obolibrary.org/obo/UBERON_0000987 haltere 'haltere' SubClassOf 'appendage' 'haltere' SubClassOf 'appendage' http://purl.obolibrary.org/obo/UBERON_0000989 penis 'penis' SubClassOf 'develops_from' some 'anal region' 'penis' SubClassOf 'develops_from' some 'trunk mesenchyme' 'penis' SubClassOf 'develops_from' some 'reproductive system' 'penis' SubClassOf 'part_of' some 'male reproductive system' http://purl.obolibrary.org/obo/UBERON_0000988 pons 'pons' SubClassOf 'part_of' some 'brainstem' http://www.orpha.net/ORDO/Orphanet_1997 Blepharo-cheilo-odontic syndrome 'Blepharo-cheilo-odontic syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Blepharo-cheilo-odontic syndrome' SubClassOf 'Congenital ectropion' 'Blepharo-cheilo-odontic syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Blepharo-cheilo-odontic syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Blepharo-cheilo-odontic syndrome' SubClassOf 'Orofacial clefting syndrome' 'Blepharo-cheilo-odontic syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Blepharo-cheilo-odontic syndrome' SubClassOf 'Congenital ectropion' 'Blepharo-cheilo-odontic syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Blepharo-cheilo-odontic syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 'Blepharo-cheilo-odontic syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Blepharo-cheilo-odontic syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Blepharo-cheilo-odontic syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 'Blepharo-cheilo-odontic syndrome' SubClassOf 'Orofacial clefting syndrome' http://www.orpha.net/ORDO/Orphanet_1995 Cleft lip - retinopathy 'Cleft lip - retinopathy' SubClassOf 'Syndromic retinitis pigmentosa' 'Cleft lip - retinopathy' SubClassOf 'Orofacial clefting syndrome' 'Cleft lip - retinopathy' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Cleft lip - retinopathy' SubClassOf 'Syndromic retinitis pigmentosa' 'Cleft lip - retinopathy' SubClassOf 'Orofacial clefting syndrome' 'Cleft lip - retinopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Cleft lip - retinopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 'Cleft lip - retinopathy' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_1993 Pai syndrome 'Pai syndrome' SubClassOf 'Orofacial clefting syndrome' 'Pai syndrome' SubClassOf 'Frontonasal dysplasia' 'Pai syndrome' SubClassOf 'Orofacial clefting syndrome' 'Pai syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 'Pai syndrome' SubClassOf 'Frontonasal dysplasia' http://www.orpha.net/ORDO/Orphanet_79219 Metabolic disease involving other neurotransmitter deficiency 'Metabolic disease involving other neurotransmitter deficiency' SubClassOf 'Disorder of biogenic amine metabolism and transport' 'Metabolic disease involving other neurotransmitter deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016404 'Metabolic disease involving other neurotransmitter deficiency' SubClassOf 'Disorder of biogenic amine metabolism and transport' 'Metabolic disease involving other neurotransmitter deficiency' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_399786 Male infertility with spermatogenesis disorder due to single gene mutation 'Male infertility with spermatogenesis disorder due to single gene mutation' SubClassOf 'Male infertility with spermatogenesis disorder' 'Male infertility with spermatogenesis disorder due to single gene mutation' SubClassOf 'Male infertility with spermatogenesis disorder' http://www.orpha.net/ORDO/Orphanet_79213 Mucopolysaccharidosis 'Mucopolysaccharidosis' SubClassOf 'Developmental anomaly of metabolic origin' 'Mucopolysaccharidosis' SubClassOf 'Rare disease with glaucoma as a major feature' 'Mucopolysaccharidosis' SubClassOf 'Lysosomal disease' 'Mucopolysaccharidosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Mucopolysaccharidosis' SubClassOf 'Developmental anomaly of metabolic origin' 'Mucopolysaccharidosis' SubClassOf 'Disorder of carbohydrate metabolism' 'Mucopolysaccharidosis' SubClassOf 'Rare genetic neurological disorder' 'Mucopolysaccharidosis' SubClassOf 'Rare disease with glaucoma as a major feature' 'Mucopolysaccharidosis' SubClassOf 'Lysosomal disease' http://www.orpha.net/ORDO/Orphanet_169808 Mild hemophilia A 'Mild hemophilia A' SubClassOf 'Hemophilia A' 'Mild hemophilia A' SubClassOf 'Hemophilia A' http://www.orpha.net/ORDO/Orphanet_79212 Mucolipidosis 'Mucolipidosis' SubClassOf 'Developmental anomaly of metabolic origin' 'Mucolipidosis' SubClassOf 'Glycoproteinosis' 'Mucolipidosis' SubClassOf 'Developmental anomaly of metabolic origin' 'Mucolipidosis' SubClassOf 'Glycoproteinosis' http://www.orpha.net/ORDO/Orphanet_79215 Oligosaccharidosis 'Oligosaccharidosis' SubClassOf 'Glycoproteinosis' 'Oligosaccharidosis' SubClassOf 'Developmental anomaly of metabolic origin' 'Oligosaccharidosis' SubClassOf 'Disorder of carbohydrate metabolism' 'Oligosaccharidosis' SubClassOf 'Glycoproteinosis' 'Oligosaccharidosis' SubClassOf 'Developmental anomaly of metabolic origin' http://www.orpha.net/ORDO/Orphanet_169805 Moderately severe hemophilia A 'Moderately severe hemophilia A' SubClassOf 'Hemophilia A' 'Moderately severe hemophilia A' SubClassOf 'Hemophilia A' http://www.orpha.net/ORDO/Orphanet_79214 Disorder of biogenic amine metabolism and transport 'Disorder of biogenic amine metabolism and transport' SubClassOf 'Inborn errors of metabolism' 'Disorder of biogenic amine metabolism and transport' SubClassOf 'Inborn errors of metabolism' http://www.orpha.net/ORDO/Orphanet_79211 Combined hyperlipidemia 'Combined hyperlipidemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001336 'Combined hyperlipidemia' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://purl.obolibrary.org/obo/UBERON_0000982 skeletal joint 'skeletal joint' DisjointWith 'bone' 'skeletal joint' SubClassOf 'part_of' some 'skeletal system' http://purl.obolibrary.org/obo/UBERON_0000981 femur 'femur' SubClassOf 'bone of lower extremity' 'femur' SubClassOf http://purl.obolibrary.org/obo/UBERON_0003608 'femur' SubClassOf 'part_of' some 'hindlimb' 'femur' SubClassOf http://purl.obolibrary.org/obo/UBERON_0008202 'femur' SubClassOf 'develops_from' some 'hindlimb' 'femur' SubClassOf 'part_of' some 'stylopod' 'femur' SubClassOf 'develops_from' some 'stylopod' 'femur' SubClassOf http://purl.obolibrary.org/obo/UBERON_0003826 http://purl.obolibrary.org/obo/UBERON_0000998 seminal vesicle 'seminal vesicle' SubClassOf 'gland' 'seminal vesicle' SubClassOf http://purl.obolibrary.org/obo/UBERON_0006868 'seminal vesicle' SubClassOf 'part_of' some 'testis' 'seminal vesicle' SubClassOf 'develops_from' some 'mesonephros' http://purl.obolibrary.org/obo/UBERON_0000997 mammalian vulva 'mammalian vulva' SubClassOf 'part_of' some 'genitourinary system' 'mammalian vulva' SubClassOf 'part_of' some 'female reproductive system' http://purl.obolibrary.org/obo/UBERON_0000996 vagina 'vagina' SubClassOf 'part_of' some 'female reproductive system' 'vagina' SubClassOf 'develops_from' some 'anal region' 'vagina' SubClassOf 'part_of' some 'oviduct' 'vagina' SubClassOf 'develops_from' some 'digestive system' http://purl.obolibrary.org/obo/UBERON_0000995 uterus 'uterus' SubClassOf 'part_of' some 'female reproductive system' 'uterus' SubClassOf 'part_of' some 'oviduct' http://purl.obolibrary.org/obo/UBERON_0000999 ejaculatory duct 'ejaculatory duct' SubClassOf 'part_of' some 'male reproductive system' http://www.orpha.net/ORDO/Orphanet_79207 Disorder of lysosomal amino acid transport 'Disorder of lysosomal amino acid transport' SubClassOf 'Lysosomal disease' 'Disorder of lysosomal amino acid transport' SubClassOf 'Lysosomal disease' http://www.orpha.net/ORDO/Orphanet_79201 Glycogen storage disease 'Glycogen storage disease' SubClassOf 'Disorder of carbohydrate metabolism' 'Glycogen storage disease' SubClassOf 'Disorder of energy metabolism' 'Glycogen storage disease' SubClassOf 'Disorder of carbohydrate metabolism' http://www.orpha.net/ORDO/Orphanet_79204 Lipid storage disease 'Lipid storage disease' SubClassOf 'Lysosomal disease' 'Lipid storage disease' SubClassOf 'Lysosomal disease' 'Lipid storage disease' SubClassOf 'Disorder of lipid metabolism' http://purl.obolibrary.org/obo/UBERON_0000990 reproductive system 'reproductive system' DisjointWith 'digestive system' 'reproductive system' DisjointWith 'immune system' 'reproductive system' DisjointWith http://purl.obolibrary.org/obo/UBERON_0002204 'reproductive system' DisjointWith 'respiratory system' 'reproductive system' DisjointWith 'hematopoietic system' 'reproductive system' DisjointWith 'skeletal system' 'reproductive system' DisjointWith 'biliary system' 'reproductive system' DisjointWith http://purl.obolibrary.org/obo/UBERON_0004456 'reproductive system' DisjointWith 'nervous system' 'reproductive system' DisjointWith 'renal system' 'reproductive system' DisjointWith 'hepatobiliary system' 'reproductive system' DisjointWith 'gustatory system' 'reproductive system' DisjointWith http://purl.obolibrary.org/obo/UBERON_0002330 'reproductive system' DisjointWith 'circulatory system' 'reproductive system' SubClassOf 'develops_from' some 'mesoderm' 'endocrine system' DisjointWith 'reproductive system' 'reproductive system' DisjointWith 'integumental system' http://purl.obolibrary.org/obo/CHEBI_17160 17alpha-estradiol '17alpha-estradiol' SubClassOf 'has_role' some 'steroid hormone' http://www.orpha.net/ORDO/Orphanet_79200 Disorder of energy metabolism 'Disorder of energy metabolism' SubClassOf 'Inborn errors of metabolism' 'Disorder of energy metabolism' SubClassOf 'Inborn errors of metabolism' http://purl.obolibrary.org/obo/UBERON_0000994 spermathecum 'spermathecum' SubClassOf 'part_of' some 'female reproductive system' 'spermathecum' SubClassOf 'develops_from' some 'gonad primordium' http://purl.obolibrary.org/obo/UBERON_0000993 oviduct 'oviduct' SubClassOf 'part_of' some 'female reproductive system' http://purl.obolibrary.org/obo/UBERON_0000992 female gonad 'female gonad' DisjointWith http://purl.obolibrary.org/obo/UBERON_0009117 'testis' DisjointWith 'female gonad' 'female gonad' SubClassOf 'part_of' some 'female reproductive system' http://www.orpha.net/ORDO/Orphanet_156532 Rare syndrome with cardiac malformations 'Rare syndrome with cardiac malformations' SubClassOf 'heart disease' 'Rare syndrome with cardiac malformations' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://purl.obolibrary.org/obo/UBERON_0000991 gonad 'gonad' SubClassOf 'reproductive system' 'gonad' SubClassOf 'reproductive system' http://purl.obolibrary.org/obo/CHEBI_17151 xylitol 'xylitol' SubClassOf 'carbohydrate' 'xylitol' SubClassOf 'carbohydrate' http://purl.obolibrary.org/obo/CHEBI_17154 nicotinamide 'nicotinamide' SubClassOf 'chemical entity' 'nicotinamide' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/HP_0001915 aplastic anemia 'aplastic anemia' SubClassOf 'has part' some ('quality' and ('inheres_in' some 'hematopoietic system') and ('has component' some 'abnormal')) http://www.orpha.net/ORDO/Orphanet_157850 Pantothenate kinase-associated neurodegeneration 'Pantothenate kinase-associated neurodegeneration' SubClassOf 'Neurodegeneration with brain iron accumulation' 'Pantothenate kinase-associated neurodegeneration' SubClassOf 'Metabolic disease with pigmentary retinitis' 'Pantothenate kinase-associated neurodegeneration' SubClassOf 'Disorder of other vitamins and cofactors metabolism and transport' 'Pantothenate kinase-associated neurodegeneration' SubClassOf 'Neuroacanthocytosis' 'Pantothenate kinase-associated neurodegeneration' SubClassOf 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement' 'Pantothenate kinase-associated neurodegeneration' SubClassOf 'Syndromic retinitis pigmentosa' 'Pantothenate kinase-associated neurodegeneration' SubClassOf 'Neurodegeneration with brain iron accumulation' 'Pantothenate kinase-associated neurodegeneration' SubClassOf 'Metabolic disease with pigmentary retinitis' 'Pantothenate kinase-associated neurodegeneration' SubClassOf 'realized_in' some ('disease course' and ('has part' some 'neurodegeneration')) 'Pantothenate kinase-associated neurodegeneration' SubClassOf 'Disorder of other vitamins and cofactors metabolism and transport' 'Pantothenate kinase-associated neurodegeneration' SubClassOf 'Neuroacanthocytosis' 'Pantothenate kinase-associated neurodegeneration' SubClassOf 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement' 'Pantothenate kinase-associated neurodegeneration' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004884 'Pantothenate kinase-associated neurodegeneration' SubClassOf 'Syndromic retinitis pigmentosa' 'Pantothenate kinase-associated neurodegeneration' SubClassOf 'Rare syndromic dyslipidemia' 'Pantothenate kinase-associated neurodegeneration' SubClassOf 'participates_in' some ('pantothenate metabolic process' and ('has component' some 'abnormal')) http://www.orpha.net/ORDO/Orphanet_399764 Male infertility due to gonadal dysgenesis or sperm disorder 'Male infertility due to gonadal dysgenesis or sperm disorder' SubClassOf 'male infertility' 'Male infertility due to gonadal dysgenesis or sperm disorder' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://purl.obolibrary.org/obo/UBERON_0011648 mandibular muscle 'mandibular muscle' SubClassOf 'zebrafish component' 'mandibular muscle' SubClassOf 'muscle of head' http://www.orpha.net/ORDO/Orphanet_93329 Autosomal recessive omodysplasia 'Autosomal recessive omodysplasia' SubClassOf 'Omodysplasia' 'Autosomal recessive omodysplasia' SubClassOf 'autosomal recessive disease' 'Autosomal recessive omodysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 'Autosomal recessive omodysplasia' SubClassOf 'Omodysplasia' http://purl.obolibrary.org/obo/CHEBI_19641 2-hydroxyisobutyrate '2-hydroxyisobutyrate' SubClassOf 'lipid' '2-hydroxyisobutyrate' SubClassOf 'lipid' http://www.ebi.ac.uk/efo/EFO_1000580 Thymic Undifferentiated Carcinoma 'Thymic Undifferentiated Carcinoma' SubClassOf 'thymus neoplasm' 'Thymic Undifferentiated Carcinoma' SubClassOf 'undifferentiated carcinoma' 'Thymic Undifferentiated Carcinoma' SubClassOf 'thymus neoplasm' 'Thymic Undifferentiated Carcinoma' SubClassOf 'undifferentiated carcinoma' 'Thymic Undifferentiated Carcinoma' SubClassOf 'Thymic Carcinoma' 'Thymic Undifferentiated Carcinoma' SubClassOf 'has_disease_location' some ('thymus' or ('part_of' some 'thymus')) http://www.orpha.net/ORDO/Orphanet_93328 Autosomal dominant omodysplasia 'Autosomal dominant omodysplasia' SubClassOf 'Omodysplasia' 'Autosomal dominant omodysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 'Autosomal dominant omodysplasia' SubClassOf 'Omodysplasia' 'Autosomal dominant omodysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 http://www.orpha.net/ORDO/Orphanet_93325 Autosomal dominant Kenny-Caffey syndrome 'Autosomal dominant Kenny-Caffey syndrome' SubClassOf 'Kenny-Caffey syndrome' 'Autosomal dominant Kenny-Caffey syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 'Autosomal dominant Kenny-Caffey syndrome' SubClassOf 'Kenny-Caffey syndrome' http://www.orpha.net/ORDO/Orphanet_93324 Autosomal recessive Kenny-Caffey syndrome 'Autosomal recessive Kenny-Caffey syndrome' SubClassOf 'Kenny-Caffey syndrome' 'Autosomal recessive Kenny-Caffey syndrome' SubClassOf 'Kenny-Caffey syndrome' 'Autosomal recessive Kenny-Caffey syndrome' SubClassOf 'autosomal recessive disease' http://www.orpha.net/ORDO/Orphanet_68367 Inborn errors of metabolism 'Inborn errors of metabolism' SubClassOf 'metabolic disease' 'Inborn errors of metabolism' EquivalentTo 'metabolic disease' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) 'Inborn errors of metabolism' SubClassOf 'metabolic disease' 'Inborn errors of metabolism' SubClassOf 'realized_in' some ('disease course' and ('has part' some 'metabolic process')) 'Inborn errors of metabolism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003847 'Inborn errors of metabolism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024297 http://www.orpha.net/ORDO/Orphanet_93323 Fibular hemimelia 'Fibular hemimelia' SubClassOf 'Hemimelia' 'Fibular hemimelia' SubClassOf 'Hemimelia' http://www.orpha.net/ORDO/Orphanet_68366 Lysosomal disease 'Lysosomal disease' SubClassOf 'Inborn errors of metabolism' 'Lysosomal disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044969 'Lysosomal disease' SubClassOf 'Inborn errors of metabolism' http://www.orpha.net/ORDO/Orphanet_93322 Tibial hemimelia 'Tibial hemimelia' SubClassOf 'Hemimelia' 'Tibial hemimelia' SubClassOf 'Hemimelia' http://www.orpha.net/ORDO/Orphanet_67036 Autosomal dominant optic atrophy and cataract 'Autosomal dominant optic atrophy and cataract' SubClassOf 'Autosomal dominant optic atrophy' 'Autosomal dominant optic atrophy and cataract' SubClassOf 'Mitochondrial oxidative phosphorylation disorder with no known mechanism' 'Autosomal dominant optic atrophy and cataract' SubClassOf 'Autosomal dominant optic atrophy' 'Autosomal dominant optic atrophy and cataract' SubClassOf 'Mitochondrial oxidative phosphorylation disorder with no known mechanism' 'Autosomal dominant optic atrophy and cataract' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 http://www.ebi.ac.uk/efo/EFO_1000587 Thyroid Gland Diffuse Large B-Cell Lymphoma 'Thyroid Gland Diffuse Large B-Cell Lymphoma' SubClassOf 'lymphoma' 'Thyroid Gland Diffuse Large B-Cell Lymphoma' SubClassOf 'thyroid neoplasm' 'Thyroid Gland Diffuse Large B-Cell Lymphoma' SubClassOf 'lymphoma' 'Thyroid Gland Diffuse Large B-Cell Lymphoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019962 'Thyroid Gland Diffuse Large B-Cell Lymphoma' SubClassOf 'has_disease_location' some ('thyroid gland' or ('part_of' some 'thyroid gland')) 'Thyroid Gland Diffuse Large B-Cell Lymphoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000621 'Thyroid Gland Diffuse Large B-Cell Lymphoma' SubClassOf 'diffuse large B-cell lymphoma' http://www.orpha.net/ORDO/Orphanet_1822 Dysplasia epiphysealis hemimelica 'Dysplasia epiphysealis hemimelica' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'Dysplasia epiphysealis hemimelica' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' http://www.orpha.net/ORDO/Orphanet_276280 Hemihyperplasia-multiple lipomatosis syndrome 'Hemihyperplasia-multiple lipomatosis syndrome' SubClassOf 'Overgrowth syndrome' 'Hemihyperplasia-multiple lipomatosis syndrome' SubClassOf 'Syndrome or malformation associated with head and neck malformations' 'Hemihyperplasia-multiple lipomatosis syndrome' SubClassOf 'Malformation syndrome with hamartosis' 'Hemihyperplasia-multiple lipomatosis syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 'Hemihyperplasia-multiple lipomatosis syndrome' SubClassOf 'Overgrowth syndrome' 'Hemihyperplasia-multiple lipomatosis syndrome' SubClassOf 'Syndrome or malformation associated with head and neck malformations' 'Hemihyperplasia-multiple lipomatosis syndrome' SubClassOf 'head and neck neoplasia' 'Hemihyperplasia-multiple lipomatosis syndrome' SubClassOf 'Malformation syndrome with hamartosis' http://www.ebi.ac.uk/efo/EFO_1000588 Thyroid Gland Hyalinizing Trabecular Tumor 'Thyroid Gland Hyalinizing Trabecular Tumor' SubClassOf 'thyroid neoplasm' 'Thyroid Gland Hyalinizing Trabecular Tumor' SubClassOf 'thyroid neoplasm' 'Thyroid Gland Hyalinizing Trabecular Tumor' SubClassOf 'has_disease_location' some ('thyroid gland' or ('part_of' some 'thyroid gland')) http://www.orpha.net/ORDO/Orphanet_68364 Hemoglobinopathy 'Hemoglobinopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044347 'Hemoglobinopathy' SubClassOf 'disease has feature' some http://purl.obolibrary.org/obo/MONDO_0002280 http://www.ebi.ac.uk/efo/EFO_1000585 Thyroglossal Duct Cyst 'Thyroglossal Duct Cyst' SubClassOf 'neoplasm' 'Thyroglossal Duct Cyst' SubClassOf 'neoplasm' http://www.ebi.ac.uk/efo/EFO_1000586 obsolete_Thyroid Gland Carcinoma 'obsolete_Thyroid Gland Carcinoma' SubClassOf 'obsolete class' 'obsolete_Thyroid Gland Carcinoma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000583 Thymoma Type B3 'Thymoma Type B3' SubClassOf 'Thymoma' 'Thymoma Type B3' SubClassOf 'has_disease_location' some ('thymus' or ('part_of' some 'thymus')) 'Thymoma Type B3' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016974 http://www.ebi.ac.uk/efo/EFO_1000584 Thymoma Type B1 'Thymoma Type B1' SubClassOf 'Thymoma' 'Thymoma Type B1' SubClassOf 'has_disease_location' some ('thymus' or ('part_of' some 'thymus')) 'Thymoma Type B1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016974 http://www.orpha.net/ORDO/Orphanet_314889 Autosomal dominant proximal renal tubular acidosis 'Autosomal dominant proximal renal tubular acidosis' SubClassOf 'Proximal renal tubular acidosis' 'Autosomal dominant proximal renal tubular acidosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 'Autosomal dominant proximal renal tubular acidosis' SubClassOf 'Proximal renal tubular acidosis' http://purl.obolibrary.org/obo/CLO_0031201 GM14405 'GM14405' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM14405' SubClassOf 'cultured cell' 'GM14405' SubClassOf 'has_quality' some 'female' http://www.ebi.ac.uk/efo/EFO_1000581 Thymoma 'Thymoma' SubClassOf 'thymus neoplasm' 'Thymoma' SubClassOf 'thymus neoplasm' 'Thymoma' SubClassOf 'has_disease_location' some ('thymus' or ('part_of' some 'thymus')) 'Thymoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018079 http://www.ebi.ac.uk/efo/EFO_1000582 Thymoma Type AB 'Thymoma Type AB' SubClassOf 'Thymoma' 'Thymoma Type AB' SubClassOf 'Thymoma' 'Thymoma Type AB' SubClassOf 'has_disease_location' some ('thymus' or ('part_of' some 'thymus')) http://www.orpha.net/ORDO/Orphanet_1818 Ectodermal dysplasia, trichoodontoonychial type 'Ectodermal dysplasia, trichoodontoonychial type' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Ectodermal dysplasia, trichoodontoonychial type' SubClassOf 'Ectodermal dysplasia syndrome' 'Ectodermal dysplasia, trichoodontoonychial type' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Ectodermal dysplasia, trichoodontoonychial type' SubClassOf 'Ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/HP_0001891 iron deficiency anemia 'iron deficiency anemia' SubClassOf ('has_participant' some 'iron') and ('participates_in' some ('iron ion homeostasis' and ('has component' some 'abnormal'))) http://www.ebi.ac.uk/efo/EFO_1000589 Thyroid Gland Mixed Medullary and Follicular Cell Carcinoma 'Thyroid Gland Mixed Medullary and Follicular Cell Carcinoma' SubClassOf 'endocrine neoplasm' 'Thyroid Gland Mixed Medullary and Follicular Cell Carcinoma' SubClassOf 'has_disease_location' some ('thyroid gland' or ('part_of' some 'thyroid gland')) http://www.orpha.net/ORDO/Orphanet_79022 Simpson-Golabi-Behmel syndrome type 2 'Simpson-Golabi-Behmel syndrome type 2' SubClassOf 'X-linked syndromic intellectual disability' 'Simpson-Golabi-Behmel syndrome type 2' SubClassOf 'Macroglossia' 'Simpson-Golabi-Behmel syndrome type 2' SubClassOf 'Overgrowth syndrome' 'Simpson-Golabi-Behmel syndrome type 2' SubClassOf 'Syndrome or malformation associated with head and neck malformations' 'Simpson-Golabi-Behmel syndrome type 2' SubClassOf 'Simpson-Golabi-Behmel syndrome' http://purl.obolibrary.org/obo/DOID_10113 trypanosomiasis 'trypanosomiasis' SubClassOf 'parasitic infection' 'trypanosomiasis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002428 http://www.orpha.net/ORDO/Orphanet_325546 Sex chromosome disorder of sex development 'Sex chromosome disorder of sex development' SubClassOf 'Genetic disorder of sex development' 'Sex chromosome disorder of sex development' SubClassOf 'Genetic disorder of sex development' http://purl.obolibrary.org/obo/HP_0011220 Prominent forehead 'Prominent forehead' SubClassOf 'abnormality of the face' 'Prominent forehead' SubClassOf 'abnormality of the face' http://www.ebi.ac.uk/efo/EFO_1000590 Thyroid Gland Mucoepidermoid Carcinoma 'Thyroid Gland Mucoepidermoid Carcinoma' SubClassOf 'thyroid carcinoma' 'Thyroid Gland Mucoepidermoid Carcinoma' SubClassOf 'carcinoma' 'Thyroid Gland Mucoepidermoid Carcinoma' SubClassOf 'has_disease_location' some ('thyroid gland' or ('part_of' some 'thyroid gland')) 'Thyroid Gland Mucoepidermoid Carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024622 'Thyroid Gland Mucoepidermoid Carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003036 http://www.ebi.ac.uk/efo/EFO_1000591 Thyroid Gland Mucosa-Associated Lymphoid Tissue Lymphoma 'Thyroid Gland Mucosa-Associated Lymphoid Tissue Lymphoma' SubClassOf 'thyroid neoplasm' 'Thyroid Gland Mucosa-Associated Lymphoid Tissue Lymphoma' SubClassOf 'lymphoma' 'Thyroid Gland Mucosa-Associated Lymphoid Tissue Lymphoma' SubClassOf 'has_disease_location' some ('thyroid gland' or ('part_of' some 'thyroid gland')) 'Thyroid Gland Mucosa-Associated Lymphoid Tissue Lymphoma' SubClassOf 'lymphoma' 'Thyroid Gland Mucosa-Associated Lymphoid Tissue Lymphoma' SubClassOf 'MALT lymphoma' 'Thyroid Gland Mucosa-Associated Lymphoid Tissue Lymphoma' SubClassOf 'thyroid carcinoma' http://www.orpha.net/ORDO/Orphanet_93339 Polydactyly of a biphalangeal thumb 'Polydactyly of a biphalangeal thumb' SubClassOf 'Preaxial polydactyly of fingers' 'Polydactyly of a biphalangeal thumb' SubClassOf 'Preaxial polydactyly of fingers' http://www.orpha.net/ORDO/Orphanet_93338 Polysyndactyly 'Polysyndactyly' SubClassOf 'Preaxial polydactyly of fingers' 'Polysyndactyly' SubClassOf 'Preaxial polydactyly of fingers' 'Polysyndactyly' SubClassOf 'Developmental anomaly of metabolic origin' 'Polysyndactyly' SubClassOf 'Inborn errors of metabolism' http://www.orpha.net/ORDO/Orphanet_93337 Polydactyly of an index finger 'Polydactyly of an index finger' SubClassOf 'Preaxial polydactyly of fingers' 'Polydactyly of an index finger' SubClassOf 'Preaxial polydactyly of fingers' http://www.orpha.net/ORDO/Orphanet_93336 Polydactyly of a triphalangeal thumb 'Polydactyly of a triphalangeal thumb' SubClassOf 'Preaxial polydactyly of fingers' 'Polydactyly of a triphalangeal thumb' SubClassOf 'Preaxial polydactyly of fingers' http://www.orpha.net/ORDO/Orphanet_67048 3-methylglutaconic aciduria type 4 '3-methylglutaconic aciduria type 4' SubClassOf '3-methylglutaconic aciduria' '3-methylglutaconic aciduria type 4' SubClassOf '3-methylglutaconic aciduria' http://www.orpha.net/ORDO/Orphanet_93335 Postaxial polydactyly type B 'Postaxial polydactyly type B' SubClassOf 'Postaxial polydactyly of fingers' 'Postaxial polydactyly type B' SubClassOf 'Postaxial polydactyly of fingers' http://www.orpha.net/ORDO/Orphanet_93334 Postaxial polydactyly type A 'Postaxial polydactyly type A' SubClassOf 'Postaxial polydactyly of fingers' 'Postaxial polydactyly type A' SubClassOf 'Postaxial polydactyly of fingers' http://www.orpha.net/ORDO/Orphanet_67046 3-methylglutaconic aciduria type 1 '3-methylglutaconic aciduria type 1' SubClassOf '3-methylglutaconic aciduria' '3-methylglutaconic aciduria type 1' SubClassOf '3-methylglutaconic aciduria' http://www.orpha.net/ORDO/Orphanet_67047 3-methylglutaconic aciduria type 3 '3-methylglutaconic aciduria type 3' SubClassOf '3-methylglutaconic aciduria' '3-methylglutaconic aciduria type 3' SubClassOf 'Rare genetic neurological disorder' '3-methylglutaconic aciduria type 3' SubClassOf '3-methylglutaconic aciduria' '3-methylglutaconic aciduria type 3' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018609 http://www.orpha.net/ORDO/Orphanet_93333 Pelviscapular dysplasia 'Pelviscapular dysplasia' SubClassOf 'Genetic syndrome with limb reduction defects' 'Pelviscapular dysplasia' SubClassOf 'Genetic syndrome with limb reduction defects' 'Pelviscapular dysplasia' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' http://www.ebi.ac.uk/efo/EFO_1000598 Tracheal Adenoid Cystic Carcinoma 'Tracheal Adenoid Cystic Carcinoma' SubClassOf 'respiratory system neoplasm' 'Tracheal Adenoid Cystic Carcinoma' SubClassOf 'adenoid cystic carcinoma' 'Tracheal Adenoid Cystic Carcinoma' SubClassOf 'has_disease_location' some ('trachea' or ('part_of' some 'trachea')) 'Tracheal Adenoid Cystic Carcinoma' SubClassOf 'Tracheal Carcinoma' 'Tracheal Adenoid Cystic Carcinoma' SubClassOf 'adenoid cystic carcinoma' http://www.orpha.net/ORDO/Orphanet_67044 Thrombocytopenia with congenital dyserythropoietic anemia 'Thrombocytopenia with congenital dyserythropoietic anemia' SubClassOf 'Congenital dyserythropoietic anemia' 'Thrombocytopenia with congenital dyserythropoietic anemia' SubClassOf 'Inherited giant platelet disorder' 'Thrombocytopenia with congenital dyserythropoietic anemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0010308 'Thrombocytopenia with congenital dyserythropoietic anemia' SubClassOf 'Congenital dyserythropoietic anemia' 'Thrombocytopenia with congenital dyserythropoietic anemia' SubClassOf 'Inherited giant platelet disorder' http://www.ebi.ac.uk/efo/EFO_1000599 Tracheal Carcinoma 'Tracheal Carcinoma' SubClassOf 'respiratory system neoplasm' 'Tracheal Carcinoma' SubClassOf 'carcinoma' 'Tracheal Carcinoma' SubClassOf 'carcinoma' 'Tracheal Carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001407 'Tracheal Carcinoma' SubClassOf 'has_disease_location' some ('trachea' or ('part_of' some 'trachea')) http://www.orpha.net/ORDO/Orphanet_1834 Axial mesodermal dysplasia spectrum 'Axial mesodermal dysplasia spectrum' SubClassOf 'Syndromic renal or urinary tract malformation' 'Axial mesodermal dysplasia spectrum' SubClassOf 'Syndromic anorectal malformation' 'Axial mesodermal dysplasia spectrum' SubClassOf 'Syndromic renal or urinary tract malformation' 'Axial mesodermal dysplasia spectrum' SubClassOf 'Syndromic anorectal malformation' http://www.orpha.net/ORDO/Orphanet_67045 X-linked intellectual disability with isolated growth hormone deficiency 'X-linked intellectual disability with isolated growth hormone deficiency' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability with isolated growth hormone deficiency' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability with isolated growth hormone deficiency' SubClassOf 'Combined pituitary hormone deficiencies, genetic forms' http://www.ebi.ac.uk/efo/EFO_1000596 Tibial Adamantinoma 'Tibial Adamantinoma' SubClassOf 'skeletal system disease' 'Tibial Adamantinoma' SubClassOf 'neoplasm' 'Tibial Adamantinoma' SubClassOf 'Adamantinoma' 'Tibial Adamantinoma' SubClassOf 'neoplasm' 'Tibial Adamantinoma' SubClassOf 'has_disease_location' some ('tibia' or ('part_of' some 'tibia')) 'Tibial Adamantinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000952 http://www.orpha.net/ORDO/Orphanet_67042 Late-onset retinal degeneration 'Late-onset retinal degeneration' SubClassOf 'Retinal dystrophy' 'Late-onset retinal degeneration' SubClassOf 'Retinal dystrophy' http://purl.obolibrary.org/obo/CL_0000610 obsolete_plant cell 'obsolete_plant cell' SubClassOf 'obsolete class' 'obsolete_plant cell' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000597 Tonsillar Squamous Cell Carcinoma 'Tonsillar Squamous Cell Carcinoma' SubClassOf 'head and neck squamous cell carcinoma' 'Tonsillar Squamous Cell Carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000535 'Tonsillar Squamous Cell Carcinoma' SubClassOf 'head and neck squamous cell carcinoma' http://www.orpha.net/ORDO/Orphanet_68373 Peroxisomal disease 'Peroxisomal disease' SubClassOf 'Inborn errors of metabolism' 'Peroxisomal disease' SubClassOf 'Rare genetic neurological disorder' 'Peroxisomal disease' SubClassOf 'Inborn errors of metabolism' 'Peroxisomal disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100033 http://www.orpha.net/ORDO/Orphanet_1832 Lethal osteosclerotic bone dysplasia 'Lethal osteosclerotic bone dysplasia' SubClassOf 'Neonatal osteosclerotic dysplasia' 'Lethal osteosclerotic bone dysplasia' SubClassOf 'Neonatal osteosclerotic dysplasia' http://www.ebi.ac.uk/efo/EFO_1000594 Thyroid Gland Squamous Cell Carcinoma 'Thyroid Gland Squamous Cell Carcinoma' SubClassOf 'thyroid carcinoma' 'Thyroid Gland Squamous Cell Carcinoma' SubClassOf 'squamous cell carcinoma' 'Thyroid Gland Squamous Cell Carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015075 'Thyroid Gland Squamous Cell Carcinoma' SubClassOf 'squamous cell carcinoma' 'Thyroid Gland Squamous Cell Carcinoma' SubClassOf 'has_disease_location' some ('thyroid gland' or ('part_of' some 'thyroid gland')) http://www.ebi.ac.uk/efo/EFO_1000595 Thyroid Gland Undifferentiated (Anaplastic) Carcinoma 'Thyroid Gland Undifferentiated (Anaplastic) Carcinoma' SubClassOf 'undifferentiated carcinoma' 'Thyroid Gland Undifferentiated (Anaplastic) Carcinoma' SubClassOf 'thyroid carcinoma' 'Thyroid Gland Undifferentiated (Anaplastic) Carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015075 'Thyroid Gland Undifferentiated (Anaplastic) Carcinoma' SubClassOf 'undifferentiated carcinoma' 'Thyroid Gland Undifferentiated (Anaplastic) Carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0005232 'Thyroid Gland Undifferentiated (Anaplastic) Carcinoma' SubClassOf 'has_disease_location' some ('thyroid gland' or ('part_of' some 'thyroid gland')) http://www.orpha.net/ORDO/Orphanet_1830 Schimke immuno-osseous dysplasia 'Schimke immuno-osseous dysplasia' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Schimke immuno-osseous dysplasia' SubClassOf 'Primary glomerular disease' 'Schimke immuno-osseous dysplasia' SubClassOf 'Malformative syndrome with dentinogenesis imperfecta' 'Schimke immuno-osseous dysplasia' SubClassOf 'Immuno-osseous dysplasia' 'Schimke immuno-osseous dysplasia' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Schimke immuno-osseous dysplasia' SubClassOf 'Primary glomerular disease' 'Schimke immuno-osseous dysplasia' SubClassOf 'Malformative syndrome with dentinogenesis imperfecta' 'Schimke immuno-osseous dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000844 'Schimke immuno-osseous dysplasia' SubClassOf 'Immuno-osseous dysplasia' http://www.orpha.net/ORDO/Orphanet_67041 Hyaluronidase deficiency 'Hyaluronidase deficiency' SubClassOf 'Mucopolysaccharidosis' 'Hyaluronidase deficiency' SubClassOf 'Lysosomal storage disease with skeletal involvement' 'Hyaluronidase deficiency' SubClassOf 'Mucopolysaccharidosis' 'Hyaluronidase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044976 'Hyaluronidase deficiency' SubClassOf 'Lysosomal storage disease with skeletal involvement' http://www.ebi.ac.uk/efo/EFO_1000592 Thyroid Gland Oncocytic Follicular Carcinoma 'Thyroid Gland Oncocytic Follicular Carcinoma' SubClassOf 'adenocarcinoma' 'Thyroid Gland Oncocytic Follicular Carcinoma' SubClassOf 'adenocarcinoma' 'Thyroid Gland Oncocytic Follicular Carcinoma' SubClassOf 'has_disease_location' some ('thyroid gland' or ('part_of' some 'thyroid gland')) http://www.ebi.ac.uk/efo/EFO_1000593 Thyroid Gland Spindle Cell Tumor with Thymus-Like Differentiation 'Thyroid Gland Spindle Cell Tumor with Thymus-Like Differentiation' SubClassOf 'thyroid neoplasm' 'Thyroid Gland Spindle Cell Tumor with Thymus-Like Differentiation' SubClassOf 'spindle cell tumor' 'Thyroid Gland Spindle Cell Tumor with Thymus-Like Differentiation' SubClassOf 'has_disease_location' some ('thyroid gland' or ('part_of' some 'thyroid gland')) 'Thyroid Gland Spindle Cell Tumor with Thymus-Like Differentiation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015075 'Thyroid Gland Spindle Cell Tumor with Thymus-Like Differentiation' SubClassOf 'spindle cell tumor' http://www.orpha.net/ORDO/Orphanet_1826 Frontometaphyseal dysplasia 'Frontometaphyseal dysplasia' SubClassOf 'X-linked syndromic intellectual disability' 'Frontometaphyseal dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007 'Frontometaphyseal dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 'Frontometaphyseal dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018233 'Frontometaphyseal dysplasia' SubClassOf 'X-linked syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_1827 Acromelic frontonasal dysplasia 'Acromelic frontonasal dysplasia' SubClassOf 'Acrofacial dysostosis' 'Acromelic frontonasal dysplasia' SubClassOf 'Frontonasal dysplasia' 'Acromelic frontonasal dysplasia' SubClassOf 'Acrofacial dysostosis' 'Acromelic frontonasal dysplasia' SubClassOf 'Frontonasal dysplasia' http://www.orpha.net/ORDO/Orphanet_1824 Lowry-Wood syndrome 'Lowry-Wood syndrome' SubClassOf 'Multiple epiphyseal dysplasia and pseudoachondroplasia' 'Lowry-Wood syndrome' SubClassOf 'Multiple epiphyseal dysplasia and pseudoachondroplasia' http://www.orpha.net/ORDO/Orphanet_1825 Epiphyseal dysplasia - hearing loss - dysmorphism 'Epiphyseal dysplasia - hearing loss - dysmorphism' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Epiphyseal dysplasia - hearing loss - dysmorphism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Epiphyseal dysplasia - hearing loss - dysmorphism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Epiphyseal dysplasia - hearing loss - dysmorphism' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/CLO_0021875 AG10049 'AG10049' SubClassOf 'has_quality' some 'male' 'AG10049' SubClassOf 'cultured cell' 'AG10049' SubClassOf 'derives_from' some ('fibroblast' and ('part_of' some ('arm' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/CHEBI_8772 raloxifene 'raloxifene' SubClassOf ('has_role' some 'bone density conservation agent') or ('has_role' some 'estrogen receptor modulator') http://www.orpha.net/ORDO/Orphanet_276267 Xeroderma pigmentosum complementation group G 'Xeroderma pigmentosum complementation group G' SubClassOf 'Xeroderma pigmentosum' 'Xeroderma pigmentosum complementation group G' SubClassOf 'Xeroderma pigmentosum-Cockayne syndrome complex' 'Xeroderma pigmentosum complementation group G' SubClassOf 'COFS syndrome' 'Xeroderma pigmentosum complementation group G' SubClassOf 'Xeroderma pigmentosum' 'Xeroderma pigmentosum complementation group G' SubClassOf 'Xeroderma pigmentosum-Cockayne syndrome complex' http://www.orpha.net/ORDO/Orphanet_93349 X-linked spondyloepimetaphyseal dysplasia 'X-linked spondyloepimetaphyseal dysplasia' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'X-linked spondyloepimetaphyseal dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000425 'X-linked spondyloepimetaphyseal dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000844 'X-linked spondyloepimetaphyseal dysplasia' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'X-linked spondyloepimetaphyseal dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 http://www.orpha.net/ORDO/Orphanet_93347 Anauxetic dysplasia 'Anauxetic dysplasia' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Anauxetic dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000844 'Anauxetic dysplasia' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_68346 Rare genetic skin disease 'Rare genetic skin disease' SubClassOf 'has_disease_location' some 'zone of skin' http://www.orpha.net/ORDO/Orphanet_93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type 'Spondyloepimetaphyseal dysplasia congenita, Strudwick type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Spondyloepimetaphyseal dysplasia congenita, Strudwick type' SubClassOf 'Type 2 collagen-related bone disorder' 'Spondyloepimetaphyseal dysplasia congenita, Strudwick type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Spondyloepimetaphyseal dysplasia congenita, Strudwick type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0022800 'Spondyloepimetaphyseal dysplasia congenita, Strudwick type' SubClassOf 'disease has feature' some 'scoliosis' 'Spondyloepimetaphyseal dysplasia congenita, Strudwick type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000844 'Spondyloepimetaphyseal dysplasia congenita, Strudwick type' SubClassOf 'Type 2 collagen-related bone disorder' http://www.orpha.net/ORDO/Orphanet_1844 Bone dysplasia, Azouz type 'Bone dysplasia, Azouz type' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'Bone dysplasia, Azouz type' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' http://purl.obolibrary.org/obo/CL_0000622 acinar cell 'acinar cell' SubClassOf 'located_in' some 'pancreas' http://www.orpha.net/ORDO/Orphanet_1842 Bone dysplasia, lethal Holmgren type 'Bone dysplasia, lethal Holmgren type' SubClassOf 'Lethal chondrodysplasia' 'Bone dysplasia, lethal Holmgren type' SubClassOf 'Lethal chondrodysplasia' http://www.orpha.net/ORDO/Orphanet_276261 Xeroderma pigmentosum complementation group E 'Xeroderma pigmentosum complementation group E' SubClassOf 'Xeroderma pigmentosum' 'Xeroderma pigmentosum complementation group E' SubClassOf 'Xeroderma pigmentosum' http://www.orpha.net/ORDO/Orphanet_276264 Xeroderma pigmentosum complementation group F 'Xeroderma pigmentosum complementation group F' SubClassOf 'Xeroderma pigmentosum' 'Xeroderma pigmentosum complementation group F' SubClassOf 'Xeroderma pigmentosum-Cockayne syndrome complex' 'Xeroderma pigmentosum complementation group F' SubClassOf 'Xeroderma pigmentosum' 'Xeroderma pigmentosum complementation group F' SubClassOf 'Xeroderma pigmentosum-Cockayne syndrome complex' http://www.orpha.net/ORDO/Orphanet_1839 Hereditary mucoepithelial dysplasia 'Hereditary mucoepithelial dysplasia' SubClassOf 'Genetic immune deficiency with skin involvement' 'Hereditary mucoepithelial dysplasia' SubClassOf 'Genetic immune deficiency with skin involvement' http://purl.obolibrary.org/obo/HP_0000581 Blepharophimosis 'Blepharophimosis' SubClassOf 'abnormality of the face' 'Blepharophimosis' SubClassOf 'abnormality of the face' http://www.orpha.net/ORDO/Orphanet_1837 Ulna metaphyseal dysplasia syndrome 'Ulna metaphyseal dysplasia syndrome' SubClassOf 'Multiple metaphyseal dysplasia' 'Ulna metaphyseal dysplasia syndrome' SubClassOf 'Multiple metaphyseal dysplasia' http://purl.obolibrary.org/obo/HP_0000582 Upslanted palpebral fissure 'Upslanted palpebral fissure' SubClassOf 'abnormality of the face' 'Upslanted palpebral fissure' SubClassOf 'abnormality of the face' http://www.orpha.net/ORDO/Orphanet_1836 Mesomelic dysplasia, Kantaputra type 'Mesomelic dysplasia, Kantaputra type' SubClassOf 'Mesomelic and rhizo-mesomelic dysplasia' 'Mesomelic dysplasia, Kantaputra type' SubClassOf 'Mesomelic and rhizo-mesomelic dysplasia' http://www.orpha.net/ORDO/Orphanet_93352 Spondyloepimetaphyseal dysplasia, Shohat type 'Spondyloepimetaphyseal dysplasia, Shohat type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Spondyloepimetaphyseal dysplasia, Shohat type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000844 'Spondyloepimetaphyseal dysplasia, Shohat type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_325529 Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency 'Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'Congenital lipoid adrenal hyperplasia due to STAR deficency' 'Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'Rare male infertility due to adrenal disorder of genetic origin' 'Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'Congenital lipoid adrenal hyperplasia due to STAR deficency' 'Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018387 'Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'Rare male infertility due to adrenal disorder of genetic origin' http://www.orpha.net/ORDO/Orphanet_93351 Spondyloepimetaphyseal dysplasia, Irapa type 'Spondyloepimetaphyseal dysplasia, Irapa type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Spondyloepimetaphyseal dysplasia, Irapa type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000844 'Spondyloepimetaphyseal dysplasia, Irapa type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_325524 Classic congenital lipoid adrenal hyperplasia due to STAR deficency 'Classic congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'Congenital lipoid adrenal hyperplasia due to STAR deficency' 'Classic congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'Congenital lipoid adrenal hyperplasia due to STAR deficency' http://www.orpha.net/ORDO/Orphanet_276255 Xeroderma pigmentosum complementation group C 'Xeroderma pigmentosum complementation group C' SubClassOf 'Xeroderma pigmentosum' 'Xeroderma pigmentosum complementation group C' SubClassOf 'Xeroderma pigmentosum' http://www.orpha.net/ORDO/Orphanet_276258 Xeroderma pigmentosum complementation group D 'Xeroderma pigmentosum complementation group D' SubClassOf 'Xeroderma pigmentosum-Cockayne syndrome complex' 'Xeroderma pigmentosum complementation group D' SubClassOf 'Xeroderma pigmentosum' 'Xeroderma pigmentosum complementation group D' SubClassOf 'Xeroderma pigmentosum-Cockayne syndrome complex' 'Xeroderma pigmentosum complementation group D' SubClassOf 'Xeroderma pigmentosum' http://www.orpha.net/ORDO/Orphanet_93359 Spondyloepimetaphyseal dysplasia with joint laxity 'Spondyloepimetaphyseal dysplasia with joint laxity' SubClassOf 'Disorder of O-xylosylglycan synthesis' 'Spondyloepimetaphyseal dysplasia with joint laxity' SubClassOf 'Congenital disorder of glycosylation-related bone disorder' 'Spondyloepimetaphyseal dysplasia with joint laxity' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Spondyloepimetaphyseal dysplasia with joint laxity' SubClassOf 'Congenital disorder of glycosylation with skin involvement' 'Spondyloepimetaphyseal dysplasia with joint laxity' SubClassOf 'Disorder of O-xylosylglycan synthesis' 'Spondyloepimetaphyseal dysplasia with joint laxity' SubClassOf 'Congenital disorder of glycosylation-related bone disorder' 'Spondyloepimetaphyseal dysplasia with joint laxity' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Spondyloepimetaphyseal dysplasia with joint laxity' SubClassOf 'Congenital disorder of glycosylation with skin involvement' http://www.orpha.net/ORDO/Orphanet_93358 Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification 'Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_93357 SPONASTRIME dysplasia 'SPONASTRIME dysplasia' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'SPONASTRIME dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000844 'SPONASTRIME dysplasia' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_68356 Leukodystrophy 'Leukodystrophy' SubClassOf 'Rare genetic neurological disorder' 'Leukodystrophy' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_93356 Spondyloepimetaphyseal dysplasia, Missouri type 'Spondyloepimetaphyseal dysplasia, Missouri type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Spondyloepimetaphyseal dysplasia, Missouri type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Spondyloepimetaphyseal dysplasia, Missouri type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000844 http://www.orpha.net/ORDO/Orphanet_1855 Spondyloenchondrodysplasia 'Spondyloenchondrodysplasia' SubClassOf 'Spondylometaphyseal dysplasia' 'Spondyloenchondrodysplasia' SubClassOf 'Immunodeficiency syndrome with autoimmunity' 'Spondyloenchondrodysplasia' SubClassOf 'Spondylometaphyseal dysplasia' 'Spondyloenchondrodysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018782 'Spondyloenchondrodysplasia' SubClassOf 'Immunodeficiency syndrome with autoimmunity' http://www.orpha.net/ORDO/Orphanet_1856 Spondyloperipheral dysplasia - short ulna 'Spondyloperipheral dysplasia - short ulna' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Spondyloperipheral dysplasia - short ulna' SubClassOf 'Type 2 collagen-related bone disorder' 'Spondyloperipheral dysplasia - short ulna' SubClassOf http://purl.obolibrary.org/obo/MONDO_0022800 'Spondyloperipheral dysplasia - short ulna' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Spondyloperipheral dysplasia - short ulna' SubClassOf 'Type 2 collagen-related bone disorder' http://www.orpha.net/ORDO/Orphanet_1851 Multicystic dysplastic kidney 'Multicystic dysplastic kidney' SubClassOf 'Cystic Kidney Disease' 'Multicystic dysplastic kidney' SubClassOf 'Genetic non-syndromic renal or urinary tract malformation' 'Multicystic dysplastic kidney' SubClassOf 'Cystic Kidney Disease' 'Multicystic dysplastic kidney' SubClassOf 'Genetic non-syndromic renal or urinary tract malformation' http://www.orpha.net/ORDO/Orphanet_1852 X-linked retinal dysplasia 'X-linked retinal dysplasia' SubClassOf 'Retinal dystrophy' 'X-linked retinal dysplasia' SubClassOf 'Retinal dystrophy' http://www.orpha.net/ORDO/Orphanet_276252 Xeroderma pigmentosum complementation group B 'Xeroderma pigmentosum complementation group B' SubClassOf 'Xeroderma pigmentosum' 'Xeroderma pigmentosum complementation group B' SubClassOf 'Xeroderma pigmentosum-Cockayne syndrome complex' 'Xeroderma pigmentosum complementation group B' SubClassOf 'Xeroderma pigmentosum' 'Xeroderma pigmentosum complementation group B' SubClassOf 'Xeroderma pigmentosum-Cockayne syndrome complex' http://www.orpha.net/ORDO/Orphanet_325511 46,XY disorder of sex development due to cholesterol synthesis defect '46,XY disorder of sex development due to cholesterol synthesis defect' SubClassOf '46,XY disorder of sex development due to testosterone synthesis defect' '46,XY disorder of sex development due to cholesterol synthesis defect' SubClassOf '46,XY disorder of sex development due to testosterone synthesis defect' http://purl.obolibrary.org/obo/HP_0000598 Abnormality of the ear 'Abnormality of the ear' EquivalentTo 'has part' some ('quality' and ('has component' some 'abnormal') and ('inheres in part of' some 'ear')) http://purl.obolibrary.org/obo/HANCESTRO_0304 ancestry status 'ancestry status' EquivalentTo 'genetically isolated ancestry' or 'admixed ancestry' http://www.orpha.net/ORDO/Orphanet_1848 Bilateral renal agenesis 'Bilateral renal agenesis' SubClassOf 'Genetic non-syndromic renal or urinary tract malformation' 'Bilateral renal agenesis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018470 http://www.orpha.net/ORDO/Orphanet_1849 Infundibulopelvic stenosis - multicystic kidney 'Infundibulopelvic stenosis - multicystic kidney' SubClassOf 'Syndromic renal or urinary tract malformation' 'Infundibulopelvic stenosis - multicystic kidney' SubClassOf 'Syndromic renal or urinary tract malformation' http://purl.obolibrary.org/obo/CHEBI_7466 nandrolone 'nandrolone' SubClassOf 'has_role' some 'drug role' http://www.orpha.net/ORDO/Orphanet_93360 Spondyloepimetaphyseal dysplasia with multiple dislocations 'Spondyloepimetaphyseal dysplasia with multiple dislocations' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Spondyloepimetaphyseal dysplasia with multiple dislocations' SubClassOf 'Spondyloepimetaphyseal dysplasia with joint laxity' http://www.orpha.net/ORDO/Orphanet_399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation 'Male infertility with azoospermia or oligozoospermia due to single gene mutation' SubClassOf 'Male infertility with spermatogenesis disorder due to single gene mutation' 'Male infertility with azoospermia or oligozoospermia due to single gene mutation' SubClassOf 'Male infertility with spermatogenesis disorder due to single gene mutation' http://purl.obolibrary.org/obo/HP_0000512 Abnormal electroretinogram 'Abnormal electroretinogram' SubClassOf 'Abnormality of the eye' 'Abnormal electroretinogram' SubClassOf 'Abnormality of the eye' http://www.orpha.net/ORDO/Orphanet_399808 Male infertility with teratozoospermia due to single gene mutation 'Male infertility with teratozoospermia due to single gene mutation' SubClassOf 'Male infertility with spermatogenesis disorder due to single gene mutation' 'Male infertility with teratozoospermia due to single gene mutation' SubClassOf 'Male infertility with spermatogenesis disorder due to single gene mutation' http://purl.obolibrary.org/obo/CLO_0031239 GM14417 'GM14417' SubClassOf 'has_quality' some 'male' 'GM14417' SubClassOf 'cultured cell' 'GM14417' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/FMA_24984 calf 'calf' SubClassOf 'part_of' some 'leg' http://purl.obolibrary.org/obo/UBERON_0010147 male accessory sex gland 'male accessory sex gland' SubClassOf 'gland' 'male accessory sex gland' SubClassOf http://purl.obolibrary.org/obo/UBERON_0005399 'male accessory sex gland' SubClassOf 'gland' http://purl.obolibrary.org/obo/CLO_0031238 GM14432 'GM14432' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM14432' SubClassOf 'cultured cell' 'GM14432' SubClassOf 'has_quality' some 'female' http://www.orpha.net/ORDO/Orphanet_399813 Male infertility due to sperm motility disorder 'Male infertility due to sperm motility disorder' SubClassOf 'Male infertility due to sperm disorder' 'Male infertility due to sperm motility disorder' SubClassOf 'Male infertility due to sperm disorder' http://purl.obolibrary.org/obo/CHEBI_82916 3-(1H-indol-3-yl)propanoate '3-(1H-indol-3-yl)propanoate' SubClassOf 'chemical entity' '3-(1H-indol-3-yl)propanoate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_82912 N-(2-furoyl)glycine 'N-(2-furoyl)glycine' SubClassOf 'furan' 'N-(2-furoyl)glycine' SubClassOf 'furan' http://www.orpha.net/ORDO/Orphanet_79062 Disorder of amino acid and other organic acid metabolism 'Disorder of amino acid and other organic acid metabolism' SubClassOf 'Inborn errors of metabolism' 'Disorder of amino acid and other organic acid metabolism' SubClassOf 'Inborn errors of metabolism' http://purl.obolibrary.org/obo/CHEBI_82911 thymol sulfate 'thymol sulfate' SubClassOf 'lipid' 'thymol sulfate' SubClassOf 'lipid' http://purl.obolibrary.org/obo/CHEBI_82914 p-cresol sulfate 'p-cresol sulfate' SubClassOf 'chemical entity' 'p-cresol sulfate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_82913 3-O-methyldopa '3-O-methyldopa' SubClassOf 'amino acid' '3-O-methyldopa' SubClassOf 'amino acid' http://purl.obolibrary.org/obo/CLO_0031232 AG08904 'AG08904' SubClassOf 'has_quality' some 'male' 'AG08904' SubClassOf 'cultured cell' 'AG08904' SubClassOf 'derives_from' some ('fibroblast' and ('part_of' some ('arm' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/HP_0000527 Long eyelashes 'Long eyelashes' SubClassOf 'abnormality of the integument' 'Long eyelashes' SubClassOf 'abnormality of the integument' http://purl.obolibrary.org/obo/HP_0000529 Progressive visual loss 'Progressive visual loss' SubClassOf 'Visual impairment' 'Progressive visual loss' SubClassOf 'Visual impairment' http://purl.obolibrary.org/obo/CLO_0031236 GM14433 'GM14433' SubClassOf 'has_quality' some 'female' 'GM14433' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM14433' SubClassOf 'cultured cell' http://purl.obolibrary.org/obo/CLO_0031234 GM14439 'GM14439' SubClassOf 'cultured cell' 'GM14439' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM14439' SubClassOf 'has_quality' some 'female' http://purl.obolibrary.org/obo/CLO_0031228 GM14406 'GM14406' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM14406' SubClassOf 'cultured cell' 'GM14406' SubClassOf 'has_quality' some 'female' http://purl.obolibrary.org/obo/CLO_0031227 GM14408 'GM14408' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM14408' SubClassOf 'has_quality' some 'male' 'GM14408' SubClassOf 'cultured cell' http://www.orpha.net/ORDO/Orphanet_289573 Fatal multiple mitochondrial dysfunction syndrome 'Fatal multiple mitochondrial dysfunction syndrome' SubClassOf 'Lipoic acid biosynthesis defect' 'Fatal multiple mitochondrial dysfunction syndrome' SubClassOf 'Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes' 'Fatal multiple mitochondrial dysfunction syndrome' SubClassOf 'mineral metabolism disease' 'Fatal multiple mitochondrial dysfunction syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Fatal multiple mitochondrial dysfunction syndrome' SubClassOf 'Neurometabolic disease' 'Fatal multiple mitochondrial dysfunction syndrome' SubClassOf 'Cerebral organic aciduria' 'Fatal multiple mitochondrial dysfunction syndrome' SubClassOf 'Lipoic acid biosynthesis defect' 'Fatal multiple mitochondrial dysfunction syndrome' SubClassOf 'Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes' 'Fatal multiple mitochondrial dysfunction syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002319 http://purl.obolibrary.org/obo/CLO_0031226 GM14409 'GM14409' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM14409' SubClassOf 'cultured cell' 'GM14409' SubClassOf 'has_quality' some 'male' http://purl.obolibrary.org/obo/CHEBI_82927 1-palmitoyl-2-linoleoyl-sn-glycerol '1-palmitoyl-2-linoleoyl-sn-glycerol' SubClassOf 'lipid' '1-palmitoyl-2-linoleoyl-sn-glycerol' SubClassOf 'lipid' http://www.orpha.net/ORDO/Orphanet_93307 Multiple epiphyseal dysplasia type 4 'Multiple epiphyseal dysplasia type 4' SubClassOf 'Sulfation-related bone disorder' 'Multiple epiphyseal dysplasia type 4' SubClassOf 'Multiple epiphyseal dysplasia' 'Multiple epiphyseal dysplasia type 4' SubClassOf 'Sulfation-related bone disorder' 'Multiple epiphyseal dysplasia type 4' SubClassOf 'Multiple epiphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_93304 Autosomal dominant brachyolmia 'Autosomal dominant brachyolmia' SubClassOf 'Brachyolmia' 'Autosomal dominant brachyolmia' SubClassOf 'TRPV4-related bone disorder' 'Autosomal dominant brachyolmia' SubClassOf 'Brachyolmia' 'Autosomal dominant brachyolmia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 'Autosomal dominant brachyolmia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 'Autosomal dominant brachyolmia' SubClassOf 'TRPV4-related bone disorder' http://www.orpha.net/ORDO/Orphanet_93302 Brachyolmia, Maroteaux type 'Brachyolmia, Maroteaux type' SubClassOf 'Brachyolmia' 'Brachyolmia, Maroteaux type' SubClassOf 'Brachyolmia' http://www.orpha.net/ORDO/Orphanet_1801 Kyphomelic dysplasia 'Kyphomelic dysplasia' SubClassOf 'Bent bone dysplasia' 'Kyphomelic dysplasia' SubClassOf 'Bent bone dysplasia' http://purl.obolibrary.org/obo/CHEBI_70958 1-methylhistidine '1-methylhistidine' SubClassOf 'amino acid' '1-methylhistidine' SubClassOf 'amino acid' http://www.orpha.net/ORDO/Orphanet_68385 Neurometabolic disease 'Neurometabolic disease' SubClassOf 'Rare genetic neurological disorder' 'Neurometabolic disease' SubClassOf 'disease has feature' some 'metabolic disease' 'Neurometabolic disease' SubClassOf 'brain disease' 'Neurometabolic disease' SubClassOf 'Rare genetic neurological disorder' http://purl.obolibrary.org/obo/CHEBI_70959 3-methylhistidine '3-methylhistidine' SubClassOf 'amino acid' '3-methylhistidine' SubClassOf 'amino acid' http://purl.obolibrary.org/obo/CLO_0031225 GM14414 'GM14414' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM14414' SubClassOf 'has_quality' some 'male' 'GM14414' SubClassOf 'cultured cell' http://purl.obolibrary.org/obo/HP_0000535 Sparse and thin eyebrow 'Sparse and thin eyebrow' SubClassOf 'abnormality of the face' 'Sparse and thin eyebrow' SubClassOf 'abnormality of the face' http://www.orpha.net/ORDO/Orphanet_314822 Primary renal tubular acidosis 'Primary renal tubular acidosis' SubClassOf 'renal tubule disease' 'Primary renal tubular acidosis' SubClassOf 'Genetic renal tubular disease' 'Primary renal tubular acidosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019744 'Primary renal tubular acidosis' SubClassOf 'Genetic renal tubular disease' http://purl.obolibrary.org/obo/CL_0000669 pericyte 'pericyte' SubClassOf 'located_in' some 'hematopoietic system' http://www.orpha.net/ORDO/Orphanet_68380 Mitochondrial disease 'Mitochondrial disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044969 http://www.orpha.net/ORDO/Orphanet_93308 Multiple epiphyseal dysplasia type 1 'Multiple epiphyseal dysplasia type 1' SubClassOf 'Multiple epiphyseal dysplasia' 'Multiple epiphyseal dysplasia type 1' SubClassOf 'Multiple epiphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_289586 Exfoliative ichthyosis 'Exfoliative ichthyosis' SubClassOf 'Autosomal recessive congenital ichthyosis' 'Exfoliative ichthyosis' SubClassOf 'Autosomal recessive congenital ichthyosis' http://purl.obolibrary.org/obo/HP_0001873 thrombocytopenia 'thrombocytopenia' EquivalentTo 'has part' some ('decreased concentration' and ('inheres_in' some 'platelet') and ('has component' some 'abnormal')) http://purl.obolibrary.org/obo/CHEBI_82932 4-ethylphenyl sulfate '4-ethylphenyl sulfate' SubClassOf 'chemical entity' '4-ethylphenyl sulfate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_82931 4-vinylphenol sulfate '4-vinylphenol sulfate' SubClassOf 'chemical entity' '4-vinylphenol sulfate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/HP_0001871 abnormality of blood and blood-forming tissues 'abnormality of blood and blood-forming tissues' EquivalentTo 'has part' some ('quality' and ('inheres_in' some 'hematopoietic system') and ('has component' some 'abnormal')) http://purl.obolibrary.org/obo/CL_0009004 retinal cell 'retinal cell' SubClassOf 'located_in' some 'retina' http://www.orpha.net/ORDO/Orphanet_93317 Spondylometaphyseal dysplasia, Sedaghatian type 'Spondylometaphyseal dysplasia, Sedaghatian type' SubClassOf 'Spondylodysplastic dysplasia' 'Spondylometaphyseal dysplasia, Sedaghatian type' SubClassOf 'Spondylometaphyseal dysplasia' 'Spondylometaphyseal dysplasia, Sedaghatian type' SubClassOf 'Spondylodysplastic dysplasia' http://www.orpha.net/ORDO/Orphanet_93316 Spondylometaphyseal dysplasia, Schmidt type 'Spondylometaphyseal dysplasia, Schmidt type' SubClassOf 'Type 2 collagen-related bone disorder' 'Spondylometaphyseal dysplasia, Schmidt type' SubClassOf 'Spondylometaphyseal dysplasia' 'Spondylometaphyseal dysplasia, Schmidt type' SubClassOf 'Type 2 collagen-related bone disorder' 'Spondylometaphyseal dysplasia, Schmidt type' SubClassOf 'Spondylometaphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_93315 Spondylometaphyseal dysplasia, 'corner fracture' type 'Spondylometaphyseal dysplasia, 'corner fracture' type' SubClassOf 'Spondylometaphyseal dysplasia' 'Spondylometaphyseal dysplasia, 'corner fracture' type' SubClassOf 'Type 2 collagen-related bone disorder' 'Spondylometaphyseal dysplasia, 'corner fracture' type' SubClassOf 'Spondylometaphyseal dysplasia' 'Spondylometaphyseal dysplasia, 'corner fracture' type' SubClassOf 'Type 2 collagen-related bone disorder' http://www.orpha.net/ORDO/Orphanet_93314 Spondylometaphyseal dysplasia, Kozlowski type 'Spondylometaphyseal dysplasia, Kozlowski type' SubClassOf 'TRPV4-related bone disorder' 'Spondylometaphyseal dysplasia, Kozlowski type' SubClassOf 'Spondylometaphyseal dysplasia' 'Spondylometaphyseal dysplasia, Kozlowski type' SubClassOf 'TRPV4-related bone disorder' 'Spondylometaphyseal dysplasia, Kozlowski type' SubClassOf 'Spondylometaphyseal dysplasia' http://purl.obolibrary.org/obo/HP_0012532 chronic pain 'chronic pain' SubClassOf 'has modifier' some 'chronic' http://www.orpha.net/ORDO/Orphanet_93311 Multiple epiphyseal dysplasia type 5 'Multiple epiphyseal dysplasia type 5' SubClassOf 'Multiple epiphyseal dysplasia' 'Multiple epiphyseal dysplasia type 5' SubClassOf 'Multiple epiphyseal dysplasia' http://purl.obolibrary.org/obo/CL_0000679 glutamatergic neuron 'glutamatergic neuron' SubClassOf 'located_in' some 'central nervous system' http://www.orpha.net/ORDO/Orphanet_1811 Odontomicronychial dysplasia 'Odontomicronychial dysplasia' SubClassOf 'Syndromic nail anomaly' 'Odontomicronychial dysplasia' SubClassOf 'Syndromic nail anomaly' 'Odontomicronychial dysplasia' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' http://www.orpha.net/ORDO/Orphanet_1812 Ectodermal dysplasia - intellectual disability - central nervous system malformation 'Ectodermal dysplasia - intellectual disability - central nervous system malformation' SubClassOf 'Ectodermal dysplasia syndrome' 'Ectodermal dysplasia - intellectual disability - central nervous system malformation' SubClassOf 'Ectodermal dysplasia syndrome' http://www.orpha.net/ORDO/Orphanet_1810 Autosomal dominant hypohidrotic ectodermal dysplasia 'Autosomal dominant hypohidrotic ectodermal dysplasia' SubClassOf 'Hypohidrotic ectodermal dysplasia' 'Autosomal dominant hypohidrotic ectodermal dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 'Autosomal dominant hypohidrotic ectodermal dysplasia' SubClassOf 'Hypohidrotic ectodermal dysplasia' http://www.orpha.net/ORDO/Orphanet_1808 Hidrotic ectodermal dysplasia, Christianson-Fourie type 'Hidrotic ectodermal dysplasia, Christianson-Fourie type' SubClassOf 'Ectodermal dysplasia syndrome' 'Hidrotic ectodermal dysplasia, Christianson-Fourie type' SubClassOf 'Ectodermal dysplasia syndrome' http://www.orpha.net/ORDO/Orphanet_1809 Hidrotic ectodermal dysplasia, Halal type 'Hidrotic ectodermal dysplasia, Halal type' SubClassOf 'Ectodermal dysplasia syndrome' 'Hidrotic ectodermal dysplasia, Halal type' SubClassOf 'Ectodermal dysplasia syndrome' http://www.orpha.net/ORDO/Orphanet_1806 Ectodermal dysplasia - blindness 'Ectodermal dysplasia - blindness' SubClassOf 'Ectodermal malformation syndrome associated with ocular features' 'Ectodermal dysplasia - blindness' SubClassOf 'Ectodermal dysplasia syndrome' 'Ectodermal dysplasia - blindness' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Ectodermal dysplasia - blindness' SubClassOf 'Ectodermal malformation syndrome associated with ocular features' 'Ectodermal dysplasia - blindness' SubClassOf 'Rare genetic neurological disorder' 'Ectodermal dysplasia - blindness' SubClassOf 'Ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/CHEBI_82942 4-(acetylamino)-3-hydroxyphenyl hydrogen sulfate '4-(acetylamino)-3-hydroxyphenyl hydrogen sulfate' SubClassOf 'amide' '4-(acetylamino)-3-hydroxyphenyl hydrogen sulfate' SubClassOf 'amide' http://www.orpha.net/ORDO/Orphanet_1807 Focal facial dermal dysplasia type III 'Focal facial dermal dysplasia type III' SubClassOf 'Focal facial dermal dysplasia' 'Focal facial dermal dysplasia type III' SubClassOf 'Focal facial dermal dysplasia' http://www.orpha.net/ORDO/Orphanet_1804 Dyssegmental dysplasia - glaucoma 'Dyssegmental dysplasia - glaucoma' SubClassOf 'Rare disease with glaucoma as a major feature' 'Dyssegmental dysplasia - glaucoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Dyssegmental dysplasia - glaucoma' SubClassOf 'Rare disease with glaucoma as a major feature' 'Dyssegmental dysplasia - glaucoma' SubClassOf 'Syndromic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_1802 Ghosal hematodiaphyseal dysplasia 'Ghosal hematodiaphyseal dysplasia' SubClassOf 'Primary bone dysplasia with increased bone density' 'Ghosal hematodiaphyseal dysplasia' SubClassOf 'Primary bone dysplasia with increased bone density' 'Ghosal hematodiaphyseal dysplasia' SubClassOf 'has_disease_location' some ('hematopoietic system' or ('part_of' some 'hematopoietic system')) http://www.orpha.net/ORDO/Orphanet_1803 Thoracomelic dysplasia 'Thoracomelic dysplasia' SubClassOf 'Short rib dysplasia' 'Thoracomelic dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015929 'Thoracomelic dysplasia' SubClassOf 'Short rib dysplasia' http://www.orpha.net/ORDO/Orphanet_93321 Radial hemimelia 'Radial hemimelia' SubClassOf 'Hemimelia' 'Radial hemimelia' SubClassOf 'Hemimelia' http://www.orpha.net/ORDO/Orphanet_93320 Ulnar hemimelia 'Ulnar hemimelia' SubClassOf 'Hemimelia' 'Ulnar hemimelia' SubClassOf 'Hemimelia' http://www.orpha.net/ORDO/Orphanet_254898 Deafness - encephaloneuropathy - obesity - valvulopathy 'Deafness - encephaloneuropathy - obesity - valvulopathy' SubClassOf 'Coenzyme Q10 deficiency' 'Deafness - encephaloneuropathy - obesity - valvulopathy' SubClassOf 'Coenzyme Q10 deficiency' http://www.ebi.ac.uk/efo/EFO_1001831 pseudolymphoma 'pseudolymphoma' SubClassOf 'lymphoma' 'pseudolymphoma' SubClassOf 'lymphoma' http://www.ebi.ac.uk/efo/EFO_1000500 Psammomatous Meningioma 'Psammomatous Meningioma' SubClassOf 'Meningioma' 'Psammomatous Meningioma' SubClassOf 'Meningioma' 'Psammomatous Meningioma' SubClassOf 'has_disease_location' some ('meninx' or ('part_of' some 'meninx')) http://www.ebi.ac.uk/efo/EFO_1001830 precursor T-cell lymphoblastic leukemia-lymphoma 'precursor T-cell lymphoblastic leukemia-lymphoma' SubClassOf 'precursor lymphoblastic lymphoma/leukemia' 'precursor T-cell lymphoblastic leukemia-lymphoma' SubClassOf 'lymphoma' 'precursor T-cell lymphoblastic leukemia-lymphoma' SubClassOf 'lymphoma' 'precursor T-cell lymphoblastic leukemia-lymphoma' SubClassOf 'acute lymphoblastic leukemia' http://www.orpha.net/ORDO/Orphanet_324294 T-cell immunodeficiency with epidermodysplasia verruciformis 'T-cell immunodeficiency with epidermodysplasia verruciformis' SubClassOf 'Other immunodeficiency syndromes due to defects in innate immunity' 'T-cell immunodeficiency with epidermodysplasia verruciformis' SubClassOf 'Other immunodeficiency syndromes due to defects in innate immunity' http://www.ebi.ac.uk/efo/EFO_0002710 COLO357 'COLO357' SubClassOf 'cancer cell line' 'COLO357' SubClassOf 'bearer_of' some 'pancreatic ductal adenocarcinoma' 'COLO357' SubClassOf 'breast adenocarcinoma cell line' 'COLO357' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.orpha.net/ORDO/Orphanet_254892 Autosomal dominant progressive external ophthalmoplegia 'Autosomal dominant progressive external ophthalmoplegia' SubClassOf 'Multiple mitochondrial DNA deletion syndrome' 'Autosomal dominant progressive external ophthalmoplegia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000090 'Autosomal dominant progressive external ophthalmoplegia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 'Autosomal dominant progressive external ophthalmoplegia' SubClassOf 'Multiple mitochondrial DNA deletion syndrome' http://purl.obolibrary.org/obo/CHEBI_70979 N-isobutyrylglycine 'N-isobutyrylglycine' SubClassOf 'chemical entity' 'N-isobutyrylglycine' SubClassOf 'chemical entity' http://www.ebi.ac.uk/efo/EFO_0002712 KIF5 'KIF5' SubClassOf 'derives_from' some ('fibroblast' and ('part_of' some ('prepuce of penis' and ('part_of' some 'Homo sapiens')))) 'KIF5' SubClassOf 'has_quality' some 'male' http://www.orpha.net/ORDO/Orphanet_324290 Early-onset Lafora body disease 'Early-onset Lafora body disease' SubClassOf 'Progressive myoclonic epilepsy' 'Early-onset Lafora body disease' SubClassOf 'Progressive myoclonic epilepsy' http://www.ebi.ac.uk/efo/EFO_0002711 F13 'F13' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('pancreas' and ('part_of' some 'Homo sapiens')))) 'F13' SubClassOf 'bearer_of' some 'normal' http://www.ebi.ac.uk/efo/EFO_0002714 Panc89 'Panc89' SubClassOf 'cancer cell line' 'Panc89' SubClassOf 'breast adenocarcinoma cell line' 'Panc89' SubClassOf 'bearer_of' some 'pancreatic ductal adenocarcinoma' 'Panc89' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_1000507 Renal Angiomyoadenomatous Tumor 'Renal Angiomyoadenomatous Tumor' SubClassOf 'kidney neoplasm' 'Renal Angiomyoadenomatous Tumor' SubClassOf 'has_disease_location' some ('kidney' or ('part_of' some 'kidney')) 'Renal Angiomyoadenomatous Tumor' SubClassOf 'kidney neoplasm' http://www.ebi.ac.uk/efo/EFO_1001839 respiratory aspiration 'respiratory aspiration' SubClassOf 'respiratory system disease' 'respiratory aspiration' SubClassOf 'respiratory system disease' http://www.ebi.ac.uk/efo/EFO_0002713 Panc1 'Panc1' SubClassOf 'cancer cell line' 'Panc1' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('pancreas' and ('part_of' some 'Homo sapiens')))) 'Panc1' SubClassOf 'bearer_of' some 'pancreatic ductal adenocarcinoma' 'Panc1' SubClassOf 'breast adenocarcinoma cell line' 'Panc1' SubClassOf 'is_input_of' some 'ENCODE functional genome mapping' http://www.ebi.ac.uk/efo/EFO_1000508 Renal Cell Carcinoma Associated with Xp11.2 Translocations/TFE3 Gene Fusions 'Renal Cell Carcinoma Associated with Xp11.2 Translocations/TFE3 Gene Fusions' SubClassOf 'renal cell carcinoma' 'Renal Cell Carcinoma Associated with Xp11.2 Translocations/TFE3 Gene Fusions' SubClassOf 'renal cell carcinoma' 'Renal Cell Carcinoma Associated with Xp11.2 Translocations/TFE3 Gene Fusions' SubClassOf 'renal cell adenocarcinoma' 'Renal Cell Carcinoma Associated with Xp11.2 Translocations/TFE3 Gene Fusions' SubClassOf 'has_disease_location' some ('kidney' or ('part_of' some 'kidney')) http://www.ebi.ac.uk/efo/EFO_1001838 renal nutcracker syndrome 'renal nutcracker syndrome' SubClassOf 'vascular disease' 'renal nutcracker syndrome' SubClassOf 'kidney disease' 'renal nutcracker syndrome' SubClassOf 'vascular disease' 'renal nutcracker syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'renal nutcracker syndrome' SubClassOf 'has_disease_location' some ('kidney' or ('part_of' some 'kidney')) http://www.ebi.ac.uk/efo/EFO_0002716 Pt45P1 'Pt45P1' SubClassOf 'cancer cell line' 'Pt45P1' SubClassOf 'bearer_of' some 'pancreatic ductal adenocarcinoma' 'Pt45P1' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'Pt45P1' SubClassOf 'breast adenocarcinoma cell line' http://www.ebi.ac.uk/efo/EFO_1000505 Rectal Tubulovillous Adenoma 'Rectal Tubulovillous Adenoma' SubClassOf 'colorectal adenoma' 'Rectal Tubulovillous Adenoma' SubClassOf 'has_disease_location' some ('rectum' or ('part_of' some 'rectum')) 'Rectal Tubulovillous Adenoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000530 'Rectal Tubulovillous Adenoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024662 'Rectal Tubulovillous Adenoma' SubClassOf 'colorectal adenoma' http://www.ebi.ac.uk/efo/EFO_1001837 rectocele 'rectocele' SubClassOf 'reproductive system disease' 'rectocele' SubClassOf 'has_disease_location' some ('vagina' or ('part_of' some 'vagina')) http://www.ebi.ac.uk/efo/EFO_0002715 PancTUI 'PancTUI' SubClassOf 'cancer cell line' 'PancTUI' SubClassOf 'bearer_of' some 'pancreatic ductal adenocarcinoma' 'PancTUI' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'PancTUI' SubClassOf 'breast adenocarcinoma cell line' http://www.ebi.ac.uk/efo/EFO_1000506 Rectal Villous Adenoma 'Rectal Villous Adenoma' SubClassOf 'colorectal adenoma' 'Rectal Villous Adenoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000502 'Rectal Villous Adenoma' SubClassOf 'colorectal adenoma' 'Rectal Villous Adenoma' SubClassOf 'has_disease_location' some ('rectum' or ('part_of' some 'rectum')) 'Rectal Villous Adenoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000530 http://www.ebi.ac.uk/efo/EFO_1001836 pyogenic liver abscess 'pyogenic liver abscess' SubClassOf 'abscess' 'pyogenic liver abscess' SubClassOf 'abscess' 'pyogenic liver abscess' SubClassOf 'has_disease_location' some ('liver' or ('part_of' some 'liver')) http://www.ebi.ac.uk/efo/EFO_1000503 Rectal Traditional Serrated Adenoma 'Rectal Traditional Serrated Adenoma' SubClassOf 'adenoma' 'Rectal Traditional Serrated Adenoma' SubClassOf 'digestive system disease' 'Rectal Traditional Serrated Adenoma' SubClassOf 'adenoma' 'Rectal Traditional Serrated Adenoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000530 'Rectal Traditional Serrated Adenoma' SubClassOf 'has_disease_location' some ('rectum' or ('part_of' some 'rectum')) http://www.ebi.ac.uk/efo/EFO_1001835 pyelocystitis 'pyelocystitis' SubClassOf 'cystitis' 'pyelocystitis' SubClassOf 'cystitis' 'pyelocystitis' SubClassOf 'pyelitis' http://www.ebi.ac.uk/efo/EFO_0002717 SH-SY5Y 'SH-SY5Y' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('bone marrow' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_1000504 Rectal Tubular Adenoma 'Rectal Tubular Adenoma' SubClassOf 'colorectal adenoma' 'Rectal Tubular Adenoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024660 'Rectal Tubular Adenoma' SubClassOf 'colorectal adenoma' 'Rectal Tubular Adenoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000530 'Rectal Tubular Adenoma' SubClassOf 'has_disease_location' some ('rectum' or ('part_of' some 'rectum')) http://www.ebi.ac.uk/efo/EFO_1001834 pulmonary aspergillosis 'pulmonary aspergillosis' SubClassOf 'respiratory system disease' 'pulmonary aspergillosis' SubClassOf 'aspergillosis' 'pulmonary aspergillosis' SubClassOf 'has_disease_location' some ('respiratory system' or ('part_of' some 'respiratory system')) 'pulmonary aspergillosis' SubClassOf 'aspergillosis' 'pulmonary aspergillosis' SubClassOf 'fungal lung infectious disease' http://www.ebi.ac.uk/efo/EFO_1000501 Pyloric Gland Adenoma 'Pyloric Gland Adenoma' SubClassOf 'adenoma' 'Pyloric Gland Adenoma' SubClassOf 'polyp' 'Pyloric Gland Adenoma' SubClassOf 'stomach neoplasm' 'Pyloric Gland Adenoma' SubClassOf 'Gastric Adenoma' 'Pyloric Gland Adenoma' SubClassOf 'adenoma' 'Pyloric Gland Adenoma' SubClassOf 'polyp' 'Pyloric Gland Adenoma' SubClassOf 'has_disease_location' some ('stomach' or ('part_of' some 'stomach')) http://www.ebi.ac.uk/efo/EFO_1001833 Pubic Symphysis Diastasis 'Pubic Symphysis Diastasis' SubClassOf 'reproductive system disease' 'Pubic Symphysis Diastasis' SubClassOf 'reproductive system disease' http://www.ebi.ac.uk/efo/EFO_1000502 Rectal Hyperplastic Polyp 'Rectal Hyperplastic Polyp' SubClassOf 'polyp' 'Rectal Hyperplastic Polyp' SubClassOf 'digestive system disease' 'Rectal Hyperplastic Polyp' SubClassOf 'has_disease_location' some ('rectum' or ('part_of' some 'rectum')) 'Rectal Hyperplastic Polyp' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021398 'Rectal Hyperplastic Polyp' SubClassOf 'polyp' http://www.ebi.ac.uk/efo/EFO_1001832 Psoas abscess 'Psoas abscess' SubClassOf 'abscess' 'Psoas abscess' SubClassOf 'abscess' http://www.orpha.net/ORDO/Orphanet_289527 Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency 'Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency' SubClassOf 'Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes' 'Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency' SubClassOf 'Mitochondrial disease with hypertrophic cardiomyopathy' 'Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency' SubClassOf 'Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes' 'Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency' SubClassOf 'Mitochondrial disease with hypertrophic cardiomyopathy' http://www.ebi.ac.uk/efo/EFO_1000509 Retinal Neoplasm 'Retinal Neoplasm' SubClassOf 'eye neoplasm' 'Retinal Neoplasm' SubClassOf 'eye neoplasm' 'Retinal Neoplasm' SubClassOf 'has_disease_location' some ('eye' or ('part_of' some 'eye')) http://www.orpha.net/ORDO/Orphanet_289522 Microtriplication 11q24.1 'Microtriplication 11q24.1' SubClassOf 'Partial duplication of the long arm of chromosome 11' 'Microtriplication 11q24.1' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Microtriplication 11q24.1' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Microtriplication 11q24.1' SubClassOf 'Partial duplication of the long arm of chromosome 11' http://purl.obolibrary.org/obo/CHEBI_82957 3-hydroxyisovalerate '3-hydroxyisovalerate' SubClassOf 'chemical entity' '3-hydroxyisovalerate' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_79091 Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia 'Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia' SubClassOf 'Inclusion myopathy' 'Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia' SubClassOf 'Inclusion myopathy' 'Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0011577 http://purl.obolibrary.org/obo/CHEBI_70984 N-isovalerylglycine 'N-isovalerylglycine' SubClassOf 'chemical entity' 'N-isovalerylglycine' SubClassOf 'chemical entity' http://www.ebi.ac.uk/efo/EFO_1000510 Retroperitoneal Inflammatory Myofibroblastic Tumor 'Retroperitoneal Inflammatory Myofibroblastic Tumor' SubClassOf 'neoplasm' 'Retroperitoneal Inflammatory Myofibroblastic Tumor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024645 'Retroperitoneal Inflammatory Myofibroblastic Tumor' SubClassOf 'has_disease_location' some ('retroperitoneum' or ('part_of' some 'retroperitoneum')) 'Retroperitoneal Inflammatory Myofibroblastic Tumor' SubClassOf 'neoplasm' 'Retroperitoneal Inflammatory Myofibroblastic Tumor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015798 http://www.ebi.ac.uk/efo/EFO_1001842 Serotonin Syndrome 'Serotonin Syndrome' SubClassOf 'nervous system disease' 'Serotonin Syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018753 'Serotonin Syndrome' SubClassOf 'nervous system disease' http://purl.obolibrary.org/obo/NCBITaxon_129394 Xanthomonas oryzae pv. oryzicola 'Xanthomonas oryzae pv. oryzicola' SubClassOf 'Xanthomonas' 'Xanthomonas oryzae pv. oryzicola' SubClassOf 'Xanthomonas' http://www.ebi.ac.uk/efo/EFO_1000511 Rhabdoid Meningioma 'Rhabdoid Meningioma' SubClassOf 'Meningioma' 'Rhabdoid Meningioma' SubClassOf 'Meningioma' 'Rhabdoid Meningioma' SubClassOf 'has_disease_location' some ('meninx' or ('part_of' some 'meninx')) http://www.ebi.ac.uk/efo/EFO_1001841 sebaceous of Jadassohn nevus 'sebaceous of Jadassohn nevus' SubClassOf 'nevus' 'sebaceous of Jadassohn nevus' SubClassOf 'nevus' http://www.ebi.ac.uk/efo/EFO_1001840 respiratory paralysis 'respiratory paralysis' SubClassOf 'nervous system disease' 'respiratory paralysis' SubClassOf 'has_disease_location' some ('respiratory system' or ('part_of' some 'respiratory system')) 'respiratory paralysis' SubClassOf 'nervous system disease' http://www.ebi.ac.uk/efo/EFO_1000518 Salivary Gland Pleomorphic Adenoma 'Salivary Gland Pleomorphic Adenoma' SubClassOf 'salivary gland neoplasm' 'Salivary Gland Pleomorphic Adenoma' SubClassOf 'salivary gland neoplasm' 'Salivary Gland Pleomorphic Adenoma' SubClassOf 'has_disease_location' some ('saliva-secreting gland' or ('part_of' some 'saliva-secreting gland')) http://www.ebi.ac.uk/efo/EFO_1000519 Salivary Gland Small Cell Carcinoma 'Salivary Gland Small Cell Carcinoma' SubClassOf 'salivary gland neoplasm' 'Salivary Gland Small Cell Carcinoma' SubClassOf 'carcinoma' 'Salivary Gland Small Cell Carcinoma' SubClassOf 'salivary gland neoplasm' 'Salivary Gland Small Cell Carcinoma' SubClassOf 'small cell carcinoma' 'Salivary Gland Small Cell Carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000521 'Salivary Gland Small Cell Carcinoma' SubClassOf 'carcinoma' 'Salivary Gland Small Cell Carcinoma' SubClassOf 'has_disease_location' some ('saliva-secreting gland' or ('part_of' some 'saliva-secreting gland')) 'Salivary Gland Small Cell Carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015078 http://www.ebi.ac.uk/efo/EFO_1001849 staphylococcal skin infections 'staphylococcal skin infections' SubClassOf 'bacterial disease' 'staphylococcal skin infections' SubClassOf 'bacterial disease' 'staphylococcal skin infections' SubClassOf 'has_disease_location' some ('zone of skin' or ('part_of' some 'zone of skin')) http://purl.obolibrary.org/obo/CHEBI_82965 gamma-Glu-Met 'gamma-Glu-Met' SubClassOf 'amide' 'gamma-Glu-Met' SubClassOf 'amide' http://www.ebi.ac.uk/efo/EFO_0002705 HPL1B 'HPL1B' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) 'HPL1B' SubClassOf 'has_quality' some 'female' http://www.ebi.ac.uk/efo/EFO_1000516 Salivary Gland Carcinoma ex Pleomorphic Adenoma 'Salivary Gland Carcinoma ex Pleomorphic Adenoma' SubClassOf 'salivary gland neoplasm' 'Salivary Gland Carcinoma ex Pleomorphic Adenoma' SubClassOf 'carcinoma' 'Salivary Gland Carcinoma ex Pleomorphic Adenoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002472 'Salivary Gland Carcinoma ex Pleomorphic Adenoma' SubClassOf 'salivary gland neoplasm' 'Salivary Gland Carcinoma ex Pleomorphic Adenoma' SubClassOf 'has_disease_location' some ('saliva-secreting gland' or ('part_of' some 'saliva-secreting gland')) 'Salivary Gland Carcinoma ex Pleomorphic Adenoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000521 'Salivary Gland Carcinoma ex Pleomorphic Adenoma' SubClassOf 'carcinoma' http://www.ebi.ac.uk/efo/EFO_1001848 squamous odontogenic tumor 'squamous odontogenic tumor' SubClassOf 'oral cavity cancer' 'squamous odontogenic tumor' SubClassOf 'oral cavity cancer' http://www.ebi.ac.uk/efo/EFO_1000517 Salivary Gland Large Cell Carcinoma 'Salivary Gland Large Cell Carcinoma' SubClassOf 'undifferentiated carcinoma' 'Salivary Gland Large Cell Carcinoma' SubClassOf 'salivary gland neoplasm' 'Salivary Gland Large Cell Carcinoma' SubClassOf 'undifferentiated carcinoma' 'Salivary Gland Large Cell Carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000521 'Salivary Gland Large Cell Carcinoma' SubClassOf 'has_disease_location' some ('saliva-secreting gland' or ('part_of' some 'saliva-secreting gland')) 'Salivary Gland Large Cell Carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0005232 http://www.ebi.ac.uk/efo/EFO_1001847 spinal subdural hematoma 'spinal subdural hematoma' SubClassOf 'hematologic disease' 'spinal subdural hematoma' SubClassOf 'hematologic disease' 'spinal subdural hematoma' SubClassOf 'has_disease_location' some ('spinal cord' or ('part_of' some 'spinal cord')) http://www.ebi.ac.uk/efo/EFO_0002707 NT-1 'NT-1' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('trachea' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_1000514 Salivary Gland Adenosquamous Carcinoma 'Salivary Gland Adenosquamous Carcinoma' SubClassOf 'carcinoma' 'Salivary Gland Adenosquamous Carcinoma' SubClassOf 'salivary gland neoplasm' 'Salivary Gland Adenosquamous Carcinoma' SubClassOf 'salivary gland squamous cell carcinoma' 'Salivary Gland Adenosquamous Carcinoma' SubClassOf 'Adenosquamous Carcinoma' 'Salivary Gland Adenosquamous Carcinoma' SubClassOf 'carcinoma' 'Salivary Gland Adenosquamous Carcinoma' SubClassOf 'salivary gland neoplasm' 'Salivary Gland Adenosquamous Carcinoma' SubClassOf 'has_disease_location' some ('saliva-secreting gland' or ('part_of' some 'saliva-secreting gland')) http://www.ebi.ac.uk/efo/EFO_1001846 Spinal Osteophytosis 'Spinal Osteophytosis' SubClassOf 'bone disease' 'Spinal Osteophytosis' SubClassOf 'bone disease' 'Spinal Osteophytosis' SubClassOf 'has_disease_location' some ('vertebra' or ('part_of' some 'vertebra')) http://www.ebi.ac.uk/efo/EFO_0002706 SM1 'SM1' SubClassOf 'derives_from' some 'lymphoma' 'SM1' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'SM1' SubClassOf 'bearer_of' some 'Epstein-Barr virus infection' http://www.ebi.ac.uk/efo/EFO_1000515 Salivary Gland Basal Cell Adenocarcinoma 'Salivary Gland Basal Cell Adenocarcinoma' SubClassOf 'adenocarcinoma' 'Salivary Gland Basal Cell Adenocarcinoma' SubClassOf 'basal cell carcinoma' 'Salivary Gland Basal Cell Adenocarcinoma' SubClassOf 'salivary gland neoplasm' 'Salivary Gland Basal Cell Adenocarcinoma' SubClassOf 'adenocarcinoma' 'Salivary Gland Basal Cell Adenocarcinoma' SubClassOf 'has_disease_location' some ('saliva-secreting gland' or ('part_of' some 'saliva-secreting gland')) 'Salivary Gland Basal Cell Adenocarcinoma' SubClassOf 'basal cell carcinoma' 'Salivary Gland Basal Cell Adenocarcinoma' SubClassOf 'has_disease_location' some 'basal cell' 'Salivary Gland Basal Cell Adenocarcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000521 http://www.ebi.ac.uk/efo/EFO_1001845 spinal cord compression 'spinal cord compression' SubClassOf 'nervous system disease' 'spinal cord compression' SubClassOf 'nervous system disease' http://www.ebi.ac.uk/efo/EFO_0002709 BxPC-3 'BxPC-3' SubClassOf 'cancer cell line' 'BxPC-3' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'BxPC-3' SubClassOf 'breast adenocarcinoma cell line' 'BxPC-3' SubClassOf 'bearer_of' some 'pancreatic ductal adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_1000512 Rhabdoid Tumor of the Kidney 'Rhabdoid Tumor of the Kidney' SubClassOf 'kidney neoplasm' 'Rhabdoid Tumor of the Kidney' SubClassOf 'embryonal neoplasm' 'Rhabdoid Tumor of the Kidney' SubClassOf 'kidney neoplasm' 'Rhabdoid Tumor of the Kidney' SubClassOf 'has_disease_location' some ('kidney' or ('part_of' some 'kidney')) 'Rhabdoid Tumor of the Kidney' SubClassOf 'embryonal neoplasm' 'Rhabdoid Tumor of the Kidney' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002930 'Rhabdoid Tumor of the Kidney' SubClassOf 'malignant rhabdoid tumour' http://www.ebi.ac.uk/efo/EFO_1001844 skin mastocytoma 'skin mastocytoma' SubClassOf 'cutaneous mastocytosis' 'skin mastocytoma' SubClassOf 'cutaneous mastocytosis' http://www.ebi.ac.uk/efo/EFO_0002708 SCN2.2 'SCN2.2' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('suprachiasmatic nucleus' and ('part_of' some 'Rattus norvegicus')))) http://www.ebi.ac.uk/efo/EFO_1000513 Salivary Gland Acinic Cell Carcinoma 'Salivary Gland Acinic Cell Carcinoma' SubClassOf 'adenocarcinoma' 'Salivary Gland Acinic Cell Carcinoma' SubClassOf 'acinar cell carcinoma' 'Salivary Gland Acinic Cell Carcinoma' SubClassOf 'has_disease_location' some 'acinar cell' 'Salivary Gland Acinic Cell Carcinoma' SubClassOf 'has_disease_location' some ('saliva-secreting gland' or ('part_of' some 'saliva-secreting gland')) 'Salivary Gland Acinic Cell Carcinoma' SubClassOf 'adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_1001843 sinoatrial nodal reentry tachycardia 'sinoatrial nodal reentry tachycardia' SubClassOf 'cardiac arrhythmia' 'sinoatrial nodal reentry tachycardia' SubClassOf 'cardiac arrhythmia' http://www.orpha.net/ORDO/Orphanet_289539 BAP1-related tumor predisposition syndrome 'BAP1-related tumor predisposition syndrome' SubClassOf 'Inherited cancer-predisposing syndrome' 'BAP1-related tumor predisposition syndrome' SubClassOf 'Inherited cancer-predisposing syndrome' http://www.orpha.net/ORDO/Orphanet_79095 Congenital bile acid synthesis defect type 4 'Congenital bile acid synthesis defect type 4' SubClassOf 'Rare hereditary metabolic disease with peripheral neuropathy' 'Congenital bile acid synthesis defect type 4' SubClassOf 'Disorder of peroxisomal alpha-, beta- and omega-oxidation' 'Congenital bile acid synthesis defect type 4' SubClassOf 'Congenital bile acid synthesis defect' 'Congenital bile acid synthesis defect type 4' SubClassOf 'Rare hereditary metabolic disease with peripheral neuropathy' 'Congenital bile acid synthesis defect type 4' SubClassOf 'Cerebral organic aciduria' 'Congenital bile acid synthesis defect type 4' SubClassOf 'Disorder of peroxisomal alpha-, beta- and omega-oxidation' 'Congenital bile acid synthesis defect type 4' SubClassOf 'Congenital bile acid synthesis defect' http://purl.obolibrary.org/obo/CHEBI_82966 gamma-glutamylphenylalanine 'gamma-glutamylphenylalanine' SubClassOf 'amide' 'gamma-glutamylphenylalanine' SubClassOf 'amide' http://www.orpha.net/ORDO/Orphanet_79094 Grange syndrome 'Grange syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Grange syndrome' SubClassOf 'Malformation syndrome with connective tissue involvement' 'Grange syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Grange syndrome' SubClassOf 'Malformation syndrome with connective tissue involvement' http://purl.obolibrary.org/obo/CHEBI_82969 gamma-Glu-Tyr 'gamma-Glu-Tyr' SubClassOf 'amide' 'gamma-Glu-Tyr' SubClassOf 'amide' http://www.orpha.net/ORDO/Orphanet_79097 Folinic acid-responsive seizures 'Folinic acid-responsive seizures' SubClassOf 'Metabolic disease involving other neurotransmitter deficiency' 'Folinic acid-responsive seizures' SubClassOf 'Neurometabolic disease' 'Folinic acid-responsive seizures' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100033 'Folinic acid-responsive seizures' SubClassOf 'Metabolic disease involving other neurotransmitter deficiency' 'Folinic acid-responsive seizures' SubClassOf 'Neurometabolic disease' http://purl.obolibrary.org/obo/CHEBI_82968 gamma-glutamylthreonine 'gamma-glutamylthreonine' SubClassOf 'amide' 'gamma-glutamylthreonine' SubClassOf 'amide' http://www.orpha.net/ORDO/Orphanet_79096 Pyridoxal phosphate-responsive seizures 'Pyridoxal phosphate-responsive seizures' SubClassOf 'Neurometabolic disease' 'Pyridoxal phosphate-responsive seizures' SubClassOf 'Disorder of pyridoxine metabolism' 'Pyridoxal phosphate-responsive seizures' SubClassOf 'Disorder of other vitamins and cofactors metabolism and transport' 'Pyridoxal phosphate-responsive seizures' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100033 'Pyridoxal phosphate-responsive seizures' SubClassOf 'Neurometabolic disease' 'Pyridoxal phosphate-responsive seizures' SubClassOf 'Disorder of pyridoxine metabolism' 'Pyridoxal phosphate-responsive seizures' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016404 'Pyridoxal phosphate-responsive seizures' SubClassOf 'Disorder of other vitamins and cofactors metabolism and transport' http://www.orpha.net/ORDO/Orphanet_254871 Mitochondrial DNA depletion syndrome, hepatocerebral form 'Mitochondrial DNA depletion syndrome, hepatocerebral form' SubClassOf 'Mitochondrial DNA depletion syndrome' 'Mitochondrial DNA depletion syndrome, hepatocerebral form' SubClassOf 'Mitochondrial DNA depletion syndrome' http://www.orpha.net/ORDO/Orphanet_254875 Mitochondrial DNA depletion syndrome, myopathic form 'Mitochondrial DNA depletion syndrome, myopathic form' SubClassOf 'Mitochondrial DNA depletion syndrome' 'Mitochondrial DNA depletion syndrome, myopathic form' SubClassOf 'Disorder of pyrimidine metabolism' 'Mitochondrial DNA depletion syndrome, myopathic form' SubClassOf 'Mitochondrial DNA depletion syndrome' 'Mitochondrial DNA depletion syndrome, myopathic form' SubClassOf 'Disorder of pyrimidine metabolism' http://www.ebi.ac.uk/efo/EFO_1000521 Sarcomatoid Mesothelioma 'Sarcomatoid Mesothelioma' SubClassOf 'respiratory system neoplasm' 'Sarcomatoid Mesothelioma' SubClassOf 'mesothelioma' 'Sarcomatoid Mesothelioma' SubClassOf 'has_disease_location' some ('pleura' or ('part_of' some 'pleura')) 'Sarcomatoid Mesothelioma' SubClassOf 'mesothelioma' 'Sarcomatoid Mesothelioma' SubClassOf 'Malignant Mesothelioma' http://www.ebi.ac.uk/efo/EFO_1001853 submandibular gland neoplasm 'submandibular gland neoplasm' SubClassOf 'head and neck neoplasia' 'submandibular gland neoplasm' SubClassOf 'digestive system disease' 'submandibular gland neoplasm' SubClassOf 'has_disease_location' some ('submandibular gland' or ('part_of' some 'submandibular gland')) 'submandibular gland neoplasm' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001597 'submandibular gland neoplasm' SubClassOf 'neoplasm' 'submandibular gland neoplasm' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021368 'submandibular gland neoplasm' EquivalentTo 'neoplasm' and ('has_disease_location' some ('submandibular gland' or ('part_of' some 'submandibular gland'))) http://www.ebi.ac.uk/efo/EFO_1000522 Secretory Meningioma 'Secretory Meningioma' SubClassOf 'Meningioma' 'Secretory Meningioma' SubClassOf 'has_disease_location' some ('meninx' or ('part_of' some 'meninx')) 'Secretory Meningioma' SubClassOf 'Meningioma' http://www.ebi.ac.uk/efo/EFO_1001852 Stomach Volvulus 'Stomach Volvulus' SubClassOf 'gastrointestinal obstruction' 'Stomach Volvulus' SubClassOf 'gastrointestinal obstruction' http://www.ebi.ac.uk/efo/EFO_1001851 stomach rupture 'stomach rupture' SubClassOf 'digestive system disease' 'stomach rupture' SubClassOf 'digestive system disease' 'stomach rupture' SubClassOf 'has_disease_location' some ('stomach' or ('part_of' some 'stomach')) http://www.ebi.ac.uk/efo/EFO_1000520 Sarcomatoid Carcinoma 'Sarcomatoid Carcinoma' SubClassOf 'carcinoma' 'Sarcomatoid Carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020633 'Sarcomatoid Carcinoma' SubClassOf 'carcinoma' http://www.ebi.ac.uk/efo/EFO_1001850 stomach diverticulum 'stomach diverticulum' SubClassOf 'digestive system disease' 'stomach diverticulum' SubClassOf 'digestive system disease' http://www.ebi.ac.uk/efo/EFO_0001401 obsolete_tonsil 'obsolete_tonsil' SubClassOf 'obsolete class' 'obsolete_tonsil' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001400 obsolete_scapula 'obsolete_scapula' SubClassOf 'obsolete class' 'obsolete_scapula' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001403 obsolete_corneal limbus 'obsolete_corneal limbus' SubClassOf 'obsolete class' 'obsolete_corneal limbus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_180079 Pseudounicornuate uterus 'Pseudounicornuate uterus' SubClassOf 'Unilateral aplasia of the Müllerian ducts' 'Pseudounicornuate uterus' SubClassOf 'Unilateral aplasia of the Müllerian ducts' http://www.ebi.ac.uk/efo/EFO_0001402 obsolete_trigeminal nerve 'obsolete_trigeminal nerve' SubClassOf 'obsolete class' 'obsolete_trigeminal nerve' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001405 obsolete_back 'obsolete_back' SubClassOf 'obsolete class' 'obsolete_back' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000529 Skin Basosquamous Cell Carcinoma 'Skin Basosquamous Cell Carcinoma' SubClassOf 'skin carcinoma' 'Skin Basosquamous Cell Carcinoma' SubClassOf 'carcinoma' 'Skin Basosquamous Cell Carcinoma' SubClassOf 'has_disease_location' some 'basal cell' 'Skin Basosquamous Cell Carcinoma' SubClassOf 'has_disease_location' some ('zone of skin' or ('part_of' some 'zone of skin')) 'Skin Basosquamous Cell Carcinoma' SubClassOf 'basal cell carcinoma' http://www.orpha.net/ORDO/Orphanet_264200 14q22q23 microdeletion syndrome '14q22q23 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 14' '14q22q23 microdeletion syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' '14q22q23 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 14' '14q22q23 microdeletion syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/CHEBI_8707 quetiapine 'quetiapine' SubClassOf ('has_role' some 'antipsychotic drug') and ('has_role' some 'adrenergic antagonist') and ('has_role' some 'histamine antagonist') and ('has_role' some 'serotonergic antagonist') and ('has_role' some 'dopaminergic antagonist') http://www.ebi.ac.uk/efo/EFO_0001404 seminiferous tubules 'seminiferous tubules' SubClassOf 'part_of' some 'testis' http://www.ebi.ac.uk/efo/EFO_0001407 obsolete_placenta 'obsolete_placenta' SubClassOf 'obsolete class' 'obsolete_placenta' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000527 Sinonasal Undifferentiated Carcinoma 'Sinonasal Undifferentiated Carcinoma' SubClassOf 'undifferentiated carcinoma' 'Sinonasal Undifferentiated Carcinoma' SubClassOf 'has_disease_location' some ('olfactory pit' or ('part_of' some 'olfactory pit')) 'Sinonasal Undifferentiated Carcinoma' SubClassOf 'undifferentiated carcinoma' http://www.ebi.ac.uk/efo/EFO_1001859 testicular hydrocele 'testicular hydrocele' SubClassOf 'has_disease_location' some ('male reproductive system' or ('part_of' some 'male reproductive system')) 'testicular hydrocele' SubClassOf 'reproductive system disease' http://www.ebi.ac.uk/efo/EFO_0001406 obsolete_extraembryonic tissue 'obsolete_extraembryonic tissue' SubClassOf 'obsolete class' 'obsolete_extraembryonic tissue' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000528 obsolete_Sinus Histiocytosis with Massive Lymphadenopathy 'obsolete_Sinus Histiocytosis with Massive Lymphadenopathy' SubClassOf 'obsolete class' 'obsolete_Sinus Histiocytosis with Massive Lymphadenopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001858 Tarlov Cysts 'Tarlov Cysts' SubClassOf 'tumour of cranial and spinal nerves' 'Tarlov Cysts' SubClassOf 'tumour of cranial and spinal nerves' http://www.ebi.ac.uk/efo/EFO_0001409 obsolete_ankle 'obsolete_ankle' SubClassOf 'obsolete class' 'obsolete_ankle' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000525 Simple Endometrial Hyperplasia 'Simple Endometrial Hyperplasia' SubClassOf 'female reproductive system disease' 'Simple Endometrial Hyperplasia' SubClassOf 'hyperplasia' 'Simple Endometrial Hyperplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0041161 'Simple Endometrial Hyperplasia' SubClassOf 'has_disease_location' some ('endometrium' or ('part_of' some 'endometrium')) 'Simple Endometrial Hyperplasia' SubClassOf 'hyperplasia' http://www.ebi.ac.uk/efo/EFO_1001857 Takayasu arteritis 'Takayasu arteritis' SubClassOf 'Arteritis' 'Takayasu arteritis' SubClassOf 'Arteritis' 'Takayasu arteritis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019724 'Takayasu arteritis' SubClassOf 'has_disease_location' some ('carotid artery' or ('part_of' some 'carotid artery')) 'Takayasu arteritis' SubClassOf 'has_disease_location' some ('retina' or ('part_of' some 'retina')) 'Takayasu arteritis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Takayasu arteritis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015488 'Takayasu arteritis' SubClassOf 'has_disease_location' some ('aorta' or ('part_of' some 'aorta')) 'Takayasu arteritis' SubClassOf 'has_disease_location' some ('brachiocephalic artery' or ('part_of' some 'brachiocephalic artery')) http://purl.obolibrary.org/obo/PATO_0000470 increased amount 'increased amount' EquivalentTo 'amount' and (http://purl.obolibrary.org/obo/pato#increased_in_magnitude_relative_to some 'normal') 'increased amount' SubClassOf http://purl.obolibrary.org/obo/pato#increased_in_magnitude_relative_to some 'normal' http://www.ebi.ac.uk/efo/EFO_0001408 cervical neck region 'cervical neck region' SubClassOf 'part_of' some 'vertebral column structure' http://www.ebi.ac.uk/efo/EFO_1000526 Simple Endometrial Hyperplasia with Atypia 'Simple Endometrial Hyperplasia with Atypia' SubClassOf 'endometrial neoplasm' 'Simple Endometrial Hyperplasia with Atypia' SubClassOf 'endometrial neoplasm' 'Simple Endometrial Hyperplasia with Atypia' SubClassOf 'has_disease_location' some ('endometrium' or ('part_of' some 'endometrium')) http://www.ebi.ac.uk/efo/EFO_1001856 Susac Syndrome 'Susac Syndrome' SubClassOf 'autoimmune disease' 'Susac Syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015939 'Susac Syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000603 'Susac Syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Susac Syndrome' SubClassOf 'autoimmune disease' 'Susac Syndrome' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Susac Syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020676 http://www.ebi.ac.uk/efo/EFO_1000523 Sex Hormone-Producing Adrenal Cortex Adenoma 'Sex Hormone-Producing Adrenal Cortex Adenoma' SubClassOf 'endocrine neoplasm' 'Sex Hormone-Producing Adrenal Cortex Adenoma' SubClassOf 'adenoma' 'Sex Hormone-Producing Adrenal Cortex Adenoma' SubClassOf 'has_disease_location' some ('adrenal cortex' or ('part_of' some 'adrenal cortex')) 'Sex Hormone-Producing Adrenal Cortex Adenoma' SubClassOf 'adrenocortical adenoma' 'Sex Hormone-Producing Adrenal Cortex Adenoma' SubClassOf 'endocrine neoplasm' 'Sex Hormone-Producing Adrenal Cortex Adenoma' SubClassOf 'adenoma' http://www.ebi.ac.uk/efo/EFO_1001855 Superior Vena Cava Syndrome 'Superior Vena Cava Syndrome' SubClassOf 'vascular disease' 'Superior Vena Cava Syndrome' SubClassOf 'vascular disease' http://www.ebi.ac.uk/efo/EFO_1000524 Signet Ring Cell Gastric Adenocarcinoma 'Signet Ring Cell Gastric Adenocarcinoma' SubClassOf 'signet ring cell carcinoma' 'Signet Ring Cell Gastric Adenocarcinoma' SubClassOf 'gastric adenocarcinoma' 'Signet Ring Cell Gastric Adenocarcinoma' SubClassOf 'signet ring cell carcinoma' 'Signet Ring Cell Gastric Adenocarcinoma' SubClassOf 'gastric adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_1001854 subphrenic abscess 'subphrenic abscess' SubClassOf 'abscess' 'subphrenic abscess' SubClassOf 'abscess' 'subphrenic abscess' SubClassOf 'has_disease_location' some ('abdomen' or ('part_of' some 'abdomen')) http://purl.obolibrary.org/obo/PO_0002000 stomatal complex 'stomatal complex' SubClassOf 'part_of' some 'leaf' http://www.orpha.net/ORDO/Orphanet_79084 Familial partial lipodystrophy, Köbberling type 'Familial partial lipodystrophy, Köbberling type' SubClassOf 'Familial partial lipodystrophy' 'Familial partial lipodystrophy, Köbberling type' SubClassOf 'Familial partial lipodystrophy' http://www.orpha.net/ORDO/Orphanet_79085 Familial partial lipodystrophy due to AKT2 mutations 'Familial partial lipodystrophy due to AKT2 mutations' SubClassOf 'Familial partial lipodystrophy' 'Familial partial lipodystrophy due to AKT2 mutations' SubClassOf 'Familial partial lipodystrophy' http://www.orpha.net/ORDO/Orphanet_254886 Autosomal recessive progressive external ophthalmoplegia 'Autosomal recessive progressive external ophthalmoplegia' SubClassOf 'Multiple mitochondrial DNA deletion syndrome' 'Autosomal recessive progressive external ophthalmoplegia' SubClassOf 'autosomal recessive disease' 'Autosomal recessive progressive external ophthalmoplegia' SubClassOf 'Multiple mitochondrial DNA deletion syndrome' 'Autosomal recessive progressive external ophthalmoplegia' SubClassOf 'progressive external ophthalmoplegia' http://www.ebi.ac.uk/efo/EFO_1000532 small intestinal adenocarcinoma 'small intestinal adenocarcinoma' SubClassOf 'adenocarcinoma' 'small intestinal adenocarcinoma' SubClassOf 'digestive system disease' 'small intestinal adenocarcinoma' SubClassOf 'adenocarcinoma' 'small intestinal adenocarcinoma' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'small intestinal adenocarcinoma' SubClassOf 'has_disease_location' some ('small intestine' or ('part_of' some 'small intestine')) 'small intestinal adenocarcinoma' SubClassOf 'small intestine carcinoma' http://www.ebi.ac.uk/efo/EFO_1001864 uterine prolapse 'uterine prolapse' SubClassOf 'pelvic organ prolapse' 'uterine prolapse' SubClassOf 'has_disease_location' some ('uterus' or ('part_of' some 'uterus')) 'uterine prolapse' SubClassOf 'pelvic organ prolapse' http://www.ebi.ac.uk/efo/EFO_1000533 Small Intestinal Burkitt Lymphoma 'Small Intestinal Burkitt Lymphoma' SubClassOf 'Burkitts lymphoma' 'Small Intestinal Burkitt Lymphoma' SubClassOf 'digestive system disease' 'Small Intestinal Burkitt Lymphoma' SubClassOf 'Burkitts lymphoma' 'Small Intestinal Burkitt Lymphoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001852 'Small Intestinal Burkitt Lymphoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000621 'Small Intestinal Burkitt Lymphoma' SubClassOf 'has_disease_location' some ('small intestine' or ('part_of' some 'small intestine')) http://www.ebi.ac.uk/efo/EFO_1001863 Uterine Inertia 'Uterine Inertia' SubClassOf 'reproductive system disease' 'Uterine Inertia' SubClassOf 'has_disease_location' some ('uterus' or ('part_of' some 'uterus')) http://www.ebi.ac.uk/efo/EFO_1000530 Skin Cavernous Hemangioma 'Skin Cavernous Hemangioma' SubClassOf 'skin neoplasm' 'Skin Cavernous Hemangioma' SubClassOf 'has_disease_location' some ('zone of skin' or ('part_of' some 'zone of skin')) 'Skin Cavernous Hemangioma' SubClassOf 'skin neoplasm' http://www.ebi.ac.uk/efo/EFO_1001862 urinary bladder fistula 'urinary bladder fistula' SubClassOf 'bladder disease' 'urinary bladder fistula' SubClassOf 'bladder disease' 'urinary bladder fistula' SubClassOf 'has_disease_location' some ('urinary bladder' or ('part_of' some 'urinary bladder')) http://www.ebi.ac.uk/efo/EFO_1000531 Skin Sarcoma 'Skin Sarcoma' SubClassOf 'skin neoplasm' 'Skin Sarcoma' SubClassOf 'sarcoma' 'Skin Sarcoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003363 'Skin Sarcoma' SubClassOf 'soft tissue sarcoma' 'Skin Sarcoma' SubClassOf 'skin neoplasm' 'Skin Sarcoma' SubClassOf 'has_disease_location' some ('zone of skin' or ('part_of' some 'zone of skin')) 'Skin Sarcoma' SubClassOf 'sarcoma' http://www.ebi.ac.uk/efo/EFO_1001860 thymus hyperplasia 'thymus hyperplasia' SubClassOf 'hyperplasia' 'thymus hyperplasia' SubClassOf 'hyperplasia' 'thymus hyperplasia' SubClassOf 'has_disease_location' some ('thymus' or ('part_of' some 'thymus')) http://www.orpha.net/ORDO/Orphanet_254881 Spinocerebellar ataxia with epilepsy 'Spinocerebellar ataxia with epilepsy' SubClassOf 'Ataxia neuropathy spectrum' 'Spinocerebellar ataxia with epilepsy' SubClassOf 'Sensory ataxic neuropathy - dysarthria - ophthalmoparesis' http://www.orpha.net/ORDO/Orphanet_289553 Dysmorphism - conductive hearing loss - heart defect 'Dysmorphism - conductive hearing loss - heart defect' SubClassOf 'Syndromic genetic deafness' 'Dysmorphism - conductive hearing loss - heart defect' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007 'Dysmorphism - conductive hearing loss - heart defect' SubClassOf 'Syndromic genetic deafness' http://www.ebi.ac.uk/efo/EFO_1000538 Small Intestinal Tubular Adenoma 'Small Intestinal Tubular Adenoma' SubClassOf 'digestive system disease' 'Small Intestinal Tubular Adenoma' SubClassOf 'adenoma' 'Small Intestinal Tubular Adenoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024660 'Small Intestinal Tubular Adenoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021303 'Small Intestinal Tubular Adenoma' SubClassOf 'adenoma' 'Small Intestinal Tubular Adenoma' SubClassOf 'has_disease_location' some ('small intestine' or ('part_of' some 'small intestine')) http://purl.obolibrary.org/obo/CHEBI_82986 3-carboxy-4-methyl-5-propyl-2-furanpropanoate '3-carboxy-4-methyl-5-propyl-2-furanpropanoate' SubClassOf 'chemical entity' '3-carboxy-4-methyl-5-propyl-2-furanpropanoate' SubClassOf 'chemical entity' http://www.ebi.ac.uk/efo/EFO_1001869 dysentery 'dysentery' SubClassOf 'infectious disease' 'dysentery' SubClassOf 'digestive system disease' 'dysentery' SubClassOf 'has_disease_location' some 'digestive system' 'dysentery' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020683 'dysentery' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000916 http://www.ebi.ac.uk/efo/EFO_1000539 Small Intestinal Tubulovillous Adenoma 'Small Intestinal Tubulovillous Adenoma' SubClassOf 'adenoma' 'Small Intestinal Tubulovillous Adenoma' SubClassOf 'digestive system disease' 'Small Intestinal Tubulovillous Adenoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021303 'Small Intestinal Tubulovillous Adenoma' SubClassOf 'has_disease_location' some ('small intestine' or ('part_of' some 'small intestine')) 'Small Intestinal Tubulovillous Adenoma' SubClassOf 'adenoma' 'Small Intestinal Tubulovillous Adenoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024661 http://www.ebi.ac.uk/efo/EFO_1000536 Small Intestinal Intraepithelial Neoplasia 'Small Intestinal Intraepithelial Neoplasia' SubClassOf 'colorectal neoplasm' 'Small Intestinal Intraepithelial Neoplasia' SubClassOf 'digestive system disease' 'Small Intestinal Intraepithelial Neoplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024474 'Small Intestinal Intraepithelial Neoplasia' SubClassOf 'colorectal neoplasm' 'Small Intestinal Intraepithelial Neoplasia' SubClassOf 'has_disease_location' some ('small intestine' or ('part_of' some 'small intestine')) 'Small Intestinal Intraepithelial Neoplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004251 http://www.ebi.ac.uk/efo/EFO_1001868 congenital contractures of the limbs and face, hypotonia, and developmental delay 'congenital contractures of the limbs and face, hypotonia, and developmental delay' SubClassOf 'Rare genetic neurological disorder' 'congenital contractures of the limbs and face, hypotonia, and developmental delay' SubClassOf 'Digitotalar dysmorphism' 'congenital contractures of the limbs and face, hypotonia, and developmental delay' SubClassOf 'Freeman-Sheldon syndrome' http://www.ebi.ac.uk/efo/EFO_1000537 Small Intestinal Mucosa-Associated Lymphoid Tissue Lymphoma 'Small Intestinal Mucosa-Associated Lymphoid Tissue Lymphoma' SubClassOf 'lymphoma' 'Small Intestinal Mucosa-Associated Lymphoid Tissue Lymphoma' SubClassOf 'digestive system disease' 'Small Intestinal Mucosa-Associated Lymphoid Tissue Lymphoma' SubClassOf 'MALT lymphoma' 'Small Intestinal Mucosa-Associated Lymphoid Tissue Lymphoma' SubClassOf 'lymphoma' 'Small Intestinal Mucosa-Associated Lymphoid Tissue Lymphoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001852 'Small Intestinal Mucosa-Associated Lymphoid Tissue Lymphoma' SubClassOf 'has_disease_location' some ('small intestine' or ('part_of' some 'small intestine')) http://www.ebi.ac.uk/efo/EFO_1001867 Zenker diverticulum 'Zenker diverticulum' SubClassOf 'digestive system disease' 'Zenker diverticulum' SubClassOf 'has_disease_location' some ('esophagus' or ('part_of' some 'esophagus')) http://www.orpha.net/ORDO/Orphanet_324262 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency 'Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency' SubClassOf 'Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome' 'Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency' SubClassOf 'Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome' http://www.ebi.ac.uk/efo/EFO_1000534 Small Intestinal Diffuse Large B-Cell Lymphoma 'Small Intestinal Diffuse Large B-Cell Lymphoma' SubClassOf 'colorectal neoplasm' 'Small Intestinal Diffuse Large B-Cell Lymphoma' SubClassOf 'diffuse large B-cell lymphoma' 'Small Intestinal Diffuse Large B-Cell Lymphoma' SubClassOf 'digestive system disease' 'Small Intestinal Diffuse Large B-Cell Lymphoma' SubClassOf 'colorectal neoplasm' 'Small Intestinal Diffuse Large B-Cell Lymphoma' SubClassOf 'diffuse large B-cell lymphoma' 'Small Intestinal Diffuse Large B-Cell Lymphoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001852 'Small Intestinal Diffuse Large B-Cell Lymphoma' SubClassOf 'has_disease_location' some ('small intestine' or ('part_of' some 'small intestine')) 'Small Intestinal Diffuse Large B-Cell Lymphoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000621 'Small Intestinal Diffuse Large B-Cell Lymphoma' SubClassOf 'has_disease_location' some 'lymphocyte of B lineage' http://www.ebi.ac.uk/efo/EFO_1001866 ventral hernia 'ventral hernia' SubClassOf 'has_disease_location' some ('abdominal wall' or ('part_of' some 'abdominal wall')) http://purl.obolibrary.org/obo/CHEBI_82982 glycodeoxycholate 'glycodeoxycholate' SubClassOf 'chemical entity' 'glycodeoxycholate' SubClassOf 'chemical entity' http://www.ebi.ac.uk/efo/EFO_1000535 Small Intestinal Enteropathy-Associated T-Cell Lymphoma 'Small Intestinal Enteropathy-Associated T-Cell Lymphoma' SubClassOf 'digestive system disease' 'Small Intestinal Enteropathy-Associated T-Cell Lymphoma' SubClassOf 'lymphoma' 'Small Intestinal Enteropathy-Associated T-Cell Lymphoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019473 'Small Intestinal Enteropathy-Associated T-Cell Lymphoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000621 'Small Intestinal Enteropathy-Associated T-Cell Lymphoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004805 'Small Intestinal Enteropathy-Associated T-Cell Lymphoma' SubClassOf 'has_disease_location' some 'T cell' 'Small Intestinal Enteropathy-Associated T-Cell Lymphoma' SubClassOf 'has_disease_location' some ('small intestine' or ('part_of' some 'small intestine')) 'Small Intestinal Enteropathy-Associated T-Cell Lymphoma' SubClassOf 'lymphoma' 'Small Intestinal Enteropathy-Associated T-Cell Lymphoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001852 http://www.ebi.ac.uk/efo/EFO_1001865 ventilator-associated pneumonia 'ventilator-associated pneumonia' SubClassOf 'pneumonia' 'ventilator-associated pneumonia' SubClassOf 'pneumonia' http://www.orpha.net/ORDO/Orphanet_79076 Juvenile polyposis of infancy 'Juvenile polyposis of infancy' SubClassOf 'Juvenile polyposis syndrome' 'Juvenile polyposis of infancy' SubClassOf 'Juvenile polyposis syndrome' http://www.orpha.net/ORDO/Orphanet_276244 Machado-Joseph disease type 3 'Machado-Joseph disease type 3' SubClassOf http://purl.obolibrary.org/obo/MONDO_0007182 http://www.orpha.net/ORDO/Orphanet_276249 Xeroderma pigmentosum complementation group A 'Xeroderma pigmentosum complementation group A' SubClassOf 'Autosomal recessive cerebellar ataxia due to a DNA repair defect' 'Xeroderma pigmentosum complementation group A' SubClassOf 'Xeroderma pigmentosum' 'Xeroderma pigmentosum complementation group A' SubClassOf 'Xeroderma pigmentosum' http://www.ebi.ac.uk/efo/EFO_1000543 Spinal Chordoma 'Spinal Chordoma' SubClassOf 'embryonal neoplasm' 'Spinal Chordoma' SubClassOf 'bone neoplasm' 'Spinal Chordoma' SubClassOf 'embryonal neoplasm' 'Spinal Chordoma' SubClassOf 'has_disease_location' some ('spinal cord' or ('part_of' some 'spinal cord')) 'Spinal Chordoma' SubClassOf 'Chordoma' 'Spinal Chordoma' SubClassOf 'bone neoplasm' http://www.ebi.ac.uk/efo/EFO_1001875 amyloidosis 'amyloidosis' SubClassOf 'acquired metabolic disease' 'amyloidosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015938 'amyloidosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021179 'amyloidosis' SubClassOf 'acquired metabolic disease' http://www.ebi.ac.uk/efo/EFO_1000544 Spinal Cord Astrocytoma 'Spinal Cord Astrocytoma' SubClassOf 'spinal cord neoplasm' 'Spinal Cord Astrocytoma' SubClassOf 'astrocytoma' 'Spinal Cord Astrocytoma' SubClassOf 'spinal cord neoplasm' 'Spinal Cord Astrocytoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019781 'Spinal Cord Astrocytoma' SubClassOf 'has_disease_location' some ('spinal cord' or ('part_of' some 'spinal cord')) 'Spinal Cord Astrocytoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002542 'Spinal Cord Astrocytoma' SubClassOf 'astrocytoma' http://www.ebi.ac.uk/efo/EFO_1001874 amyloidoma 'amyloidoma' SubClassOf 'amyloidosis' 'amyloidoma' SubClassOf 'amyloidosis' http://www.ebi.ac.uk/efo/EFO_0001421 liver disease 'liver disease' SubClassOf 'digestive system disease' 'liver disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044965 'liver disease' EquivalentTo 'has_disease_location' some ('liver' or ('part_of' some 'liver')) 'liver disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002515 http://www.ebi.ac.uk/efo/EFO_1000541 Soft Tissue Neoplasm 'Soft Tissue Neoplasm' SubClassOf 'neoplasm' 'Soft Tissue Neoplasm' SubClassOf 'neoplasm' 'Soft Tissue Neoplasm' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044334 http://www.ebi.ac.uk/efo/EFO_1001873 AIDS phobia 'AIDS phobia' SubClassOf 'nosophobia' 'AIDS phobia' SubClassOf 'nosophobia' http://www.ebi.ac.uk/efo/EFO_0001420 obsolete_sepsis 'obsolete_sepsis' SubClassOf 'obsolete class' 'obsolete_sepsis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000542 Solid Pseudopapillary Neoplasm of the Pancreas 'Solid Pseudopapillary Neoplasm of the Pancreas' SubClassOf 'pancreatic neoplasm' 'Solid Pseudopapillary Neoplasm of the Pancreas' SubClassOf 'pancreatic neoplasm' 'Solid Pseudopapillary Neoplasm of the Pancreas' SubClassOf 'has_disease_location' some ('pancreas' or ('part_of' some 'pancreas')) http://www.ebi.ac.uk/efo/EFO_1001872 agoraphobia 'agoraphobia' SubClassOf 'phobic disorder' 'agoraphobia' SubClassOf 'phobic disorder' http://www.ebi.ac.uk/efo/EFO_0001423 encephalomyelitis 'encephalomyelitis' SubClassOf 'central nervous system infection' 'encephalomyelitis' SubClassOf 'has_disease_location' only 'central nervous system' 'encephalomyelitis' SubClassOf 'has_disease_location' some 'central nervous system' 'encephalomyelitis' SubClassOf 'central nervous system infection' 'encephalomyelitis' SubClassOf 'central nervous system disease' 'encephalomyelitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021166 http://www.ebi.ac.uk/efo/EFO_1001871 acquired cold urticaria 'acquired cold urticaria' SubClassOf 'cold urticaria' 'acquired cold urticaria' SubClassOf 'has_disease_location' some ('zone of skin' or ('part_of' some 'zone of skin')) 'acquired cold urticaria' SubClassOf 'cold urticaria' http://www.ebi.ac.uk/efo/EFO_0001422 cirrhosis of liver 'cirrhosis of liver' SubClassOf 'liver disease' 'cirrhosis of liver' EquivalentTo 'fibrosis' and ('has_disease_location' some 'liver') http://www.ebi.ac.uk/efo/EFO_1000540 Soft Tissue Chondroma 'Soft Tissue Chondroma' SubClassOf 'soft tissue disease' 'Soft Tissue Chondroma' SubClassOf 'neoplasm' 'Soft Tissue Chondroma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044335 'Soft Tissue Chondroma' SubClassOf 'neoplasm' 'Soft Tissue Chondroma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002360 http://www.orpha.net/ORDO/Orphanet_276241 Machado-Joseph disease type 2 'Machado-Joseph disease type 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0007182 http://www.ebi.ac.uk/efo/EFO_0001425 ischemic cardiomyopathy 'ischemic cardiomyopathy' EquivalentTo 'cardiomyopathy' and ('derives_from' some 'myocardial infarction') http://www.ebi.ac.uk/efo/EFO_0001424 obsolete_masseter muscle 'obsolete_masseter muscle' SubClassOf 'obsolete class' 'obsolete_masseter muscle' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000549 Splenic Mantle Cell Lymphoma 'Splenic Mantle Cell Lymphoma' SubClassOf 'Mantle cell lymphoma' 'Splenic Mantle Cell Lymphoma' SubClassOf 'has_disease_location' some ('spleen' or ('part_of' some 'spleen')) 'Splenic Mantle Cell Lymphoma' SubClassOf 'has_disease_location' some 'mantle cell' 'Splenic Mantle Cell Lymphoma' SubClassOf 'Mantle cell lymphoma' 'Splenic Mantle Cell Lymphoma' SubClassOf 'lymphoma' http://www.ebi.ac.uk/efo/EFO_0002759 methylation profiling by array 'methylation profiling by array' SubClassOf 'has_participant' some 'DNA array' http://www.ebi.ac.uk/efo/EFO_1000547 Splenic Diffuse Large B-Cell Lymphoma 'Splenic Diffuse Large B-Cell Lymphoma' SubClassOf 'lymphoma' 'Splenic Diffuse Large B-Cell Lymphoma' SubClassOf 'has_disease_location' some 'lymphocyte of B lineage' 'Splenic Diffuse Large B-Cell Lymphoma' SubClassOf 'has_disease_location' some ('spleen' or ('part_of' some 'spleen')) 'Splenic Diffuse Large B-Cell Lymphoma' SubClassOf 'lymphoma' 'Splenic Diffuse Large B-Cell Lymphoma' SubClassOf 'diffuse large B-cell lymphoma' http://www.ebi.ac.uk/efo/EFO_1001879 cancerophobia 'cancerophobia' SubClassOf 'nosophobia' 'cancerophobia' SubClassOf 'nosophobia' http://www.ebi.ac.uk/efo/EFO_1000548 Splenic Hodgkin Lymphoma 'Splenic Hodgkin Lymphoma' SubClassOf 'Hodgkins lymphoma' 'Splenic Hodgkin Lymphoma' SubClassOf 'has_disease_location' some ('spleen' or ('part_of' some 'spleen')) 'Splenic Hodgkin Lymphoma' SubClassOf 'Hodgkins lymphoma' http://www.ebi.ac.uk/efo/EFO_1001878 blood-injection-injury phobia 'blood-injection-injury phobia' SubClassOf 'specific phobia' 'blood-injection-injury phobia' SubClassOf 'specific phobia' http://www.orpha.net/ORDO/Orphanet_181393 Growth hormone insensitivity syndrome 'Growth hormone insensitivity syndrome' SubClassOf 'Rare genetic hypothalamic or pituitary disease' 'Growth hormone insensitivity syndrome' SubClassOf 'Rare genetic hypothalamic or pituitary disease' 'Growth hormone insensitivity syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019590 'Growth hormone insensitivity syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015514 'Growth hormone insensitivity syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 http://www.orpha.net/ORDO/Orphanet_300284 Connective tissue disorder due to lysyl hydroxylase-3 deficiency 'Connective tissue disorder due to lysyl hydroxylase-3 deficiency' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'Connective tissue disorder due to lysyl hydroxylase-3 deficiency' SubClassOf 'Syndromic genetic deafness' 'Connective tissue disorder due to lysyl hydroxylase-3 deficiency' SubClassOf 'Malformation syndrome with connective tissue involvement' 'Connective tissue disorder due to lysyl hydroxylase-3 deficiency' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'Connective tissue disorder due to lysyl hydroxylase-3 deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015938 'Connective tissue disorder due to lysyl hydroxylase-3 deficiency' SubClassOf 'Syndromic genetic deafness' 'Connective tissue disorder due to lysyl hydroxylase-3 deficiency' SubClassOf 'Malformation syndrome with connective tissue involvement' http://www.ebi.ac.uk/efo/EFO_1000545 Spinal Cord Primitive Neuroectodermal Tumor 'Spinal Cord Primitive Neuroectodermal Tumor' SubClassOf 'primitive neuroectodermal tumor' 'Spinal Cord Primitive Neuroectodermal Tumor' SubClassOf 'spinal cord neoplasm' 'Spinal Cord Primitive Neuroectodermal Tumor' SubClassOf 'primitive neuroectodermal tumor' 'Spinal Cord Primitive Neuroectodermal Tumor' SubClassOf 'has_disease_location' some ('spinal cord' or ('part_of' some 'spinal cord')) 'Spinal Cord Primitive Neuroectodermal Tumor' SubClassOf 'spinal cord neoplasm' 'Spinal Cord Primitive Neuroectodermal Tumor' SubClassOf 'embryonal neoplasm' 'Spinal Cord Primitive Neuroectodermal Tumor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003544 'Spinal Cord Primitive Neuroectodermal Tumor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000640 http://www.ebi.ac.uk/efo/EFO_1001877 anxiety-like behavior 'anxiety-like behavior' SubClassOf 'behavior' 'anxiety-like behavior' SubClassOf 'behavior' http://www.ebi.ac.uk/efo/EFO_1000546 Spindle Cell Melanoma 'Spindle Cell Melanoma' SubClassOf 'spindle cell tumor' 'Spindle Cell Melanoma' SubClassOf 'melanoma' 'Spindle Cell Melanoma' SubClassOf 'spindle cell tumor' http://www.ebi.ac.uk/efo/EFO_1001876 animal phobia 'animal phobia' SubClassOf 'specific phobia' 'animal phobia' SubClassOf 'specific phobia' http://www.orpha.net/ORDO/Orphanet_181390 Hypogonadotropic hypogonadism associated with other endocrinopathies 'Hypogonadotropic hypogonadism associated with other endocrinopathies' SubClassOf 'Rare female infertility due to a congenital hypogonadotropic hypogonadism' 'Hypogonadotropic hypogonadism associated with other endocrinopathies' SubClassOf 'Congenital hypogonadotropic hypogonadism' 'Hypogonadotropic hypogonadism associated with other endocrinopathies' SubClassOf 'Rare female infertility due to a congenital hypogonadotropic hypogonadism' 'Hypogonadotropic hypogonadism associated with other endocrinopathies' SubClassOf 'Congenital hypogonadotropic hypogonadism' http://www.orpha.net/ORDO/Orphanet_93372 Familial hypocalciuric hypercalcemia type 1 'Familial hypocalciuric hypercalcemia type 1' SubClassOf 'Familial hypocalciuric hypercalcemia' 'Familial hypocalciuric hypercalcemia type 1' SubClassOf 'Familial hypocalciuric hypercalcemia' http://www.orpha.net/ORDO/Orphanet_276234 Non-syndromic male infertility due to sperm motility disorder 'Non-syndromic male infertility due to sperm motility disorder' SubClassOf 'Male infertility due to sperm motility disorder' 'Non-syndromic male infertility due to sperm motility disorder' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021128 'Non-syndromic male infertility due to sperm motility disorder' EquivalentTo 'Male infertility due to sperm motility disorder' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021128) 'Non-syndromic male infertility due to sperm motility disorder' SubClassOf 'Male infertility due to sperm motility disorder' http://www.orpha.net/ORDO/Orphanet_276238 Machado-Joseph disease type 1 'Machado-Joseph disease type 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0007182 http://www.ebi.ac.uk/efo/EFO_1000554 Submandibular Gland Adenocarcinoma 'Submandibular Gland Adenocarcinoma' SubClassOf 'submandibular gland neoplasm' 'Submandibular Gland Adenocarcinoma' SubClassOf 'adenocarcinoma' 'Submandibular Gland Adenocarcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004724 'Submandibular Gland Adenocarcinoma' SubClassOf 'adenocarcinoma' 'Submandibular Gland Adenocarcinoma' SubClassOf 'has_disease_location' some ('submandibular gland' or ('part_of' some 'submandibular gland')) http://www.ebi.ac.uk/efo/EFO_1001886 Endoplasmic Reticulum Stress 'Endoplasmic Reticulum Stress' SubClassOf 'cellular metabolic process' 'Endoplasmic Reticulum Stress' SubClassOf 'cellular metabolic process' http://www.ebi.ac.uk/efo/EFO_1000555 Submandibular Gland Adenoid Cystic Carcinoma 'Submandibular Gland Adenoid Cystic Carcinoma' SubClassOf 'adenoid cystic carcinoma' 'Submandibular Gland Adenoid Cystic Carcinoma' SubClassOf 'submandibular gland neoplasm' 'Submandibular Gland Adenoid Cystic Carcinoma' SubClassOf 'has_disease_location' some ('submandibular gland' or ('part_of' some 'submandibular gland')) 'Submandibular Gland Adenoid Cystic Carcinoma' SubClassOf 'adenoid cystic carcinoma' 'Submandibular Gland Adenoid Cystic Carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004724 'Submandibular Gland Adenoid Cystic Carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0045063 http://www.ebi.ac.uk/efo/EFO_1001885 diffuse alveolar-septal amyloidosis 'diffuse alveolar-septal amyloidosis' SubClassOf 'pulmonary amyloidosis' 'diffuse alveolar-septal amyloidosis' SubClassOf 'has_disease_location' some ('lung' or ('part_of' some 'lung')) 'diffuse alveolar-septal amyloidosis' SubClassOf 'pulmonary amyloidosis' http://www.ebi.ac.uk/efo/EFO_0001410 obsolete_arm 'obsolete_arm' SubClassOf 'obsolete class' 'obsolete_arm' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000552 Subcutaneous Panniculitis-Like T-Cell Lymphoma 'Subcutaneous Panniculitis-Like T-Cell Lymphoma' SubClassOf 'lymphoma' 'Subcutaneous Panniculitis-Like T-Cell Lymphoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000621 'Subcutaneous Panniculitis-Like T-Cell Lymphoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004805 'Subcutaneous Panniculitis-Like T-Cell Lymphoma' SubClassOf 'has_disease_location' some 'T cell' 'Subcutaneous Panniculitis-Like T-Cell Lymphoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015816 'Subcutaneous Panniculitis-Like T-Cell Lymphoma' SubClassOf 'lymphoma' http://www.ebi.ac.uk/efo/EFO_1001884 dental phobia 'dental phobia' SubClassOf 'specific phobia' 'dental phobia' SubClassOf 'specific phobia' http://www.ebi.ac.uk/efo/EFO_1000553 Subependymoma 'Subependymoma' SubClassOf 'neoplasm' 'Subependymoma' SubClassOf 'neoplasm' 'Subependymoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016697 http://www.ebi.ac.uk/efo/EFO_1001883 Dendritic keratitis 'Dendritic keratitis' SubClassOf 'Herpes simplex virus keratitis' 'Dendritic keratitis' SubClassOf 'Herpes simplex virus keratitis' 'Dendritic keratitis' SubClassOf 'has_disease_location' some ('eye' or ('part_of' some 'eye')) http://www.ebi.ac.uk/efo/EFO_0001412 obsolete_deltoid 'obsolete_deltoid' SubClassOf 'obsolete class' 'obsolete_deltoid' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000550 Splenic Marginal Zone Lymphoma 'Splenic Marginal Zone Lymphoma' SubClassOf 'marginal zone B-cell lymphoma' 'Splenic Marginal Zone Lymphoma' SubClassOf 'splenic disease' 'Splenic Marginal Zone Lymphoma' SubClassOf 'has_disease_location' some ('spleen' or ('part_of' some 'spleen')) 'Splenic Marginal Zone Lymphoma' SubClassOf 'marginal zone B-cell lymphoma' 'Splenic Marginal Zone Lymphoma' SubClassOf 'lymphoma' http://www.ebi.ac.uk/efo/EFO_1001882 cutaneous nodular amyloidosis 'cutaneous nodular amyloidosis' SubClassOf 'amyloidoma' 'cutaneous nodular amyloidosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015301 'cutaneous nodular amyloidosis' SubClassOf 'amyloidoma' http://www.ebi.ac.uk/efo/EFO_0001411 obsolete_leg 'obsolete_leg' SubClassOf 'obsolete class' 'obsolete_leg' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000551 Stromal Predominant Kidney Wilms Tumor 'Stromal Predominant Kidney Wilms Tumor' SubClassOf 'kidney neoplasm' 'Stromal Predominant Kidney Wilms Tumor' SubClassOf 'Nephroblastoma' 'Stromal Predominant Kidney Wilms Tumor' SubClassOf 'has_disease_location' some ('kidney' or ('part_of' some 'kidney')) 'Stromal Predominant Kidney Wilms Tumor' SubClassOf 'kidney neoplasm' 'Stromal Predominant Kidney Wilms Tumor' SubClassOf 'Nephroblastoma' 'Stromal Predominant Kidney Wilms Tumor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003321 http://www.ebi.ac.uk/efo/EFO_1001881 cold urticaria 'cold urticaria' SubClassOf 'urticaria' 'cold urticaria' SubClassOf 'has_disease_location' some ('zone of skin' or ('part_of' some 'zone of skin')) 'cold urticaria' SubClassOf 'urticaria' http://www.ebi.ac.uk/efo/EFO_1001880 chemotherapy-induced gastrointestinal mucositis 'chemotherapy-induced gastrointestinal mucositis' SubClassOf 'gastrointestinal mucositis' 'chemotherapy-induced gastrointestinal mucositis' SubClassOf 'has_disease_location' some ('digestive system' or ('part_of' some 'digestive system')) 'chemotherapy-induced gastrointestinal mucositis' SubClassOf 'gastrointestinal mucositis' http://www.orpha.net/ORDO/Orphanet_180068 Partial bilateral aplasia of the Müllerian ducts 'Partial bilateral aplasia of the Müllerian ducts' SubClassOf 'Müllerian aplasia' 'Partial bilateral aplasia of the Müllerian ducts' SubClassOf 'Müllerian aplasia' http://www.ebi.ac.uk/efo/EFO_0001413 obsolete_gastrocnemius 'obsolete_gastrocnemius' SubClassOf 'obsolete class' 'obsolete_gastrocnemius' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001416 cervical adenocarcinoma 'cervical adenocarcinoma' SubClassOf 'female reproductive system disease' 'cervical adenocarcinoma' SubClassOf 'adenocarcinoma' 'cervical adenocarcinoma' SubClassOf 'urogenital neoplasm' 'cervical adenocarcinoma' SubClassOf 'has_disease_location' some 'uterine cervix' 'cervical adenocarcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016275 http://www.ebi.ac.uk/efo/EFO_0001415 obsolete_umbilical cord 'obsolete_umbilical cord' SubClassOf 'obsolete class' 'obsolete_umbilical cord' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001418 obsolete_biceps femoris 'obsolete_biceps femoris' SubClassOf 'obsolete class' 'obsolete_biceps femoris' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_300298 Severe congenital hypochromic anemia with ringed sideroblasts 'Severe congenital hypochromic anemia with ringed sideroblasts' SubClassOf 'Constitutional anemia due to iron metabolism disorder' 'Severe congenital hypochromic anemia with ringed sideroblasts' SubClassOf 'Constitutional sideroblastic anemia' 'Severe congenital hypochromic anemia with ringed sideroblasts' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000104 'Severe congenital hypochromic anemia with ringed sideroblasts' SubClassOf 'Constitutional anemia due to iron metabolism disorder' 'Severe congenital hypochromic anemia with ringed sideroblasts' SubClassOf 'Constitutional sideroblastic anemia' http://www.ebi.ac.uk/efo/EFO_0001417 obsolete_sciatic nerve 'obsolete_sciatic nerve' SubClassOf 'obsolete class' 'obsolete_sciatic nerve' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002748 obsolete_tail bud 'obsolete_tail bud' SubClassOf 'obsolete class' 'obsolete_tail bud' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000558 Syringocystadenoma Papilliferum 'Syringocystadenoma Papilliferum' SubClassOf 'adenoma' 'Syringocystadenoma Papilliferum' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021110 'Syringocystadenoma Papilliferum' SubClassOf 'adenoma' http://www.ebi.ac.uk/efo/EFO_1000559 Systemic Mastocytosis with Associated Clonal Hematological non-Mast-Cell Lineage Disease 'Systemic Mastocytosis with Associated Clonal Hematological non-Mast-Cell Lineage Disease' SubClassOf 'hematologic disease' http://www.ebi.ac.uk/efo/EFO_1001889 flying phobia 'flying phobia' SubClassOf 'specific phobia' 'flying phobia' SubClassOf 'specific phobia' http://www.orpha.net/ORDO/Orphanet_180074 True unicornuate uterus 'True unicornuate uterus' SubClassOf 'Unilateral aplasia of the Müllerian ducts' 'True unicornuate uterus' SubClassOf 'Unilateral aplasia of the Müllerian ducts' http://www.ebi.ac.uk/efo/EFO_1000556 Superficial Fibromatosis 'Superficial Fibromatosis' SubClassOf 'fibromatosis' 'Superficial Fibromatosis' SubClassOf 'fibromatosis' http://www.ebi.ac.uk/efo/EFO_1001888 eye infection 'eye infection' SubClassOf 'infectious disease' 'eye infection' SubClassOf 'eye disease' 'eye infection' SubClassOf 'infectious disease' 'eye infection' SubClassOf 'eye disease' http://www.orpha.net/ORDO/Orphanet_180071 Unilateral aplasia of the Müllerian ducts 'Unilateral aplasia of the Müllerian ducts' SubClassOf 'Müllerian aplasia' 'Unilateral aplasia of the Müllerian ducts' SubClassOf 'Müllerian aplasia' http://www.ebi.ac.uk/efo/EFO_1000557 Synovial Chondromatosis 'Synovial Chondromatosis' SubClassOf 'sarcoma' 'Synovial Chondromatosis' SubClassOf 'sarcoma' 'Synovial Chondromatosis' SubClassOf 'has_disease_location' some ('synovial membrane' or ('part_of' some 'synovial membrane')) http://www.ebi.ac.uk/efo/EFO_1001887 epicondylitis 'epicondylitis' SubClassOf 'Tendinopathy' 'epicondylitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021166 'epicondylitis' SubClassOf 'Tendinopathy' 'epicondylitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044967 'epicondylitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002614 http://www.orpha.net/ORDO/Orphanet_300293 Transient infantile hypertriglyceridemia and hepatosteatosis 'Transient infantile hypertriglyceridemia and hepatosteatosis' SubClassOf 'Genetic parenchymatous liver disease' 'Transient infantile hypertriglyceridemia and hepatosteatosis' SubClassOf 'Genetic parenchymatous liver disease' http://www.orpha.net/ORDO/Orphanet_93387 Brachydactyly type E 'Brachydactyly type E' SubClassOf 'Syndrome with brachydactyly' 'Brachydactyly type E' SubClassOf 'Syndrome with brachydactyly' http://purl.obolibrary.org/obo/BTO_0004263 COM-3 cell 'COM-3 cell' SubClassOf 'derives_from' some ('myoblast' and ('part_of' some ('organism part' and ('part_of' some 'organism')))) http://purl.obolibrary.org/obo/BTO_0004264 INC-2 cell 'INC-2 cell' SubClassOf 'derives_from' some ('cell type' and ('part_of' some (('developmental stage' or 'organism part') and ('part_of' some 'Mus')))) http://www.orpha.net/ORDO/Orphanet_93384 Brachydactyly type C 'Brachydactyly type C' SubClassOf 'Syndrome with brachydactyly' 'Brachydactyly type C' SubClassOf 'Syndrome with brachydactyly' http://www.orpha.net/ORDO/Orphanet_93383 Brachydactyly type B 'Brachydactyly type B' SubClassOf 'Syndrome with brachydactyly' 'Brachydactyly type B' SubClassOf 'Syndrome with brachydactyly' http://www.orpha.net/ORDO/Orphanet_93382 Brachydactyly type A6 'Brachydactyly type A6' SubClassOf 'Acromesomelic dysplasia' 'Brachydactyly type A6' SubClassOf 'Syndrome with brachydactyly' 'Brachydactyly type A6' SubClassOf 'Acromesomelic dysplasia' 'Brachydactyly type A6' SubClassOf 'Syndrome with brachydactyly' http://www.orpha.net/ORDO/Orphanet_92050 Intestinal epithelial dysplasia 'Intestinal epithelial dysplasia' SubClassOf 'Genetic intractable diarrhea of infancy' 'Intestinal epithelial dysplasia' SubClassOf 'Congenital enteropathy involving intestinal mucosa development' 'Intestinal epithelial dysplasia' SubClassOf 'Genetic intractable diarrhea of infancy' 'Intestinal epithelial dysplasia' SubClassOf 'Congenital enteropathy involving intestinal mucosa development' 'Intestinal epithelial dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0045032 http://purl.obolibrary.org/obo/HP_0011276 Vascular skin abnormality 'Vascular skin abnormality' SubClassOf 'Abnormality of the vasculature' 'Vascular skin abnormality' SubClassOf 'Abnormality of the vasculature' http://www.orpha.net/ORDO/Orphanet_276223 Mucopolysaccharidosis type 6, slowly progressing 'Mucopolysaccharidosis type 6, slowly progressing' SubClassOf 'Mucopolysaccharidosis type 6' 'Mucopolysaccharidosis type 6, slowly progressing' SubClassOf 'Mucopolysaccharidosis type 6' http://purl.obolibrary.org/obo/HP_0011277 abnormality of the urinary system physiology 'abnormality of the urinary system physiology' SubClassOf 'inheres in part of' some 'renal system' http://www.ebi.ac.uk/efo/EFO_0002770 transcription profiling by high throughput sequencing 'transcription profiling by high throughput sequencing' SubClassOf 'has_participant' some 'high throughput sequencer' http://www.orpha.net/ORDO/Orphanet_93389 Brachydactyly type A5 'Brachydactyly type A5' SubClassOf 'Syndrome with brachydactyly' 'Brachydactyly type A5' SubClassOf 'Syndrome with brachydactyly' http://www.orpha.net/ORDO/Orphanet_93388 Brachydactyly type A1 'Brachydactyly type A1' SubClassOf 'Syndrome with brachydactyly' 'Brachydactyly type A1' SubClassOf 'Syndrome with brachydactyly' http://www.ebi.ac.uk/efo/EFO_1000565 Testicular Embryonal Carcinoma 'Testicular Embryonal Carcinoma' SubClassOf 'testicular neoplasm' 'Testicular Embryonal Carcinoma' SubClassOf 'testicular disease' 'Testicular Embryonal Carcinoma' SubClassOf 'germ cell tumor' 'Testicular Embryonal Carcinoma' SubClassOf 'embryonal neoplasm' 'Testicular Embryonal Carcinoma' SubClassOf 'germ cell tumor' 'Testicular Embryonal Carcinoma' SubClassOf 'testicular neoplasm' 'Testicular Embryonal Carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003403 'Testicular Embryonal Carcinoma' SubClassOf 'has_disease_location' some ('testis' or ('part_of' some 'testis')) 'Testicular Embryonal Carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002874 'Testicular Embryonal Carcinoma' SubClassOf 'embryonal neoplasm' 'Testicular Embryonal Carcinoma' SubClassOf 'embryonal carcinoma' http://www.ebi.ac.uk/efo/EFO_1001897 Morvan syndrome 'Morvan syndrome' SubClassOf 'muscular channelopathy' 'Morvan syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016375 'Morvan syndrome' SubClassOf 'muscular channelopathy' 'Morvan syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015657 http://www.ebi.ac.uk/efo/EFO_0000110 obsolete_spinal cord 'obsolete_spinal cord' SubClassOf 'obsolete class' 'obsolete_spinal cord' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002771 genotyping by high throughput sequencing 'genotyping by high throughput sequencing' SubClassOf 'has_participant' some 'high throughput sequencer' http://www.ebi.ac.uk/efo/EFO_1000566 Testicular Germ Cell Tumor 'Testicular Germ Cell Tumor' SubClassOf 'testicular neoplasm' 'Testicular Germ Cell Tumor' SubClassOf 'testicular disease' 'Testicular Germ Cell Tumor' SubClassOf 'germ cell tumor' 'Testicular Germ Cell Tumor' SubClassOf 'testicular neoplasm' 'Testicular Germ Cell Tumor' SubClassOf 'has_disease_location' some ('testis' or ('part_of' some 'testis')) 'Testicular Germ Cell Tumor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021348 'Testicular Germ Cell Tumor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018191 'Testicular Germ Cell Tumor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018202 'Testicular Germ Cell Tumor' SubClassOf 'germ cell tumor' http://www.ebi.ac.uk/efo/EFO_1001896 lateral epicondylitis 'lateral epicondylitis' SubClassOf 'epicondylitis' 'lateral epicondylitis' SubClassOf 'epicondylitis' http://www.ebi.ac.uk/efo/EFO_0002774 assay by mass spectrometry 'assay by mass spectrometry' EquivalentTo 'has_participant' some 'mass spectrometer' http://www.ebi.ac.uk/efo/EFO_1000563 Teratoma with Malignant Transformation 'Teratoma with Malignant Transformation' SubClassOf 'germ cell tumor' 'Teratoma with Malignant Transformation' SubClassOf 'germ cell tumor' 'Teratoma with Malignant Transformation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002601 http://www.ebi.ac.uk/efo/EFO_1000564 Testicular Choriocarcinoma 'Testicular Choriocarcinoma' SubClassOf 'testicular disease' 'Testicular Choriocarcinoma' SubClassOf 'choriocarcinoma' 'Testicular Choriocarcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002871 'Testicular Choriocarcinoma' SubClassOf 'has_disease_location' some ('testis' or ('part_of' some 'testis')) 'Testicular Choriocarcinoma' SubClassOf 'choriocarcinoma' 'Testicular Choriocarcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003403 http://www.ebi.ac.uk/efo/EFO_0002776 H0287 'H0287' SubClassOf 'bearer_of' some 'normal' 'H0287' SubClassOf 'derives_from' some ('lymphoblast' and ('part_of' some ('organism part' and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_1000561 Tendon Sheath Fibroma 'Tendon Sheath Fibroma' SubClassOf 'fibroma' 'Tendon Sheath Fibroma' SubClassOf 'bone neoplasm' 'Tendon Sheath Fibroma' SubClassOf 'fibroma' 'Tendon Sheath Fibroma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024876 http://www.ebi.ac.uk/efo/EFO_1001893 Hand-foot syndrome 'Hand-foot syndrome' SubClassOf 'skin disease' 'Hand-foot syndrome' SubClassOf 'skin disease' http://www.ebi.ac.uk/efo/EFO_1000562 Tenosynovial Giant Cell Tumor 'Tenosynovial Giant Cell Tumor' SubClassOf 'skeletal system disease' 'Tenosynovial Giant Cell Tumor' SubClassOf 'neoplasm' 'Tenosynovial Giant Cell Tumor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024876 'Tenosynovial Giant Cell Tumor' SubClassOf 'bone neoplasm' 'Tenosynovial Giant Cell Tumor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002171 'Tenosynovial Giant Cell Tumor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002528 'Tenosynovial Giant Cell Tumor' DisjointWith 'pigmented villonodular synovitis' 'Tenosynovial Giant Cell Tumor' SubClassOf 'has_disease_location' some ('synovial membrane' or ('part_of' some 'synovial membrane')) 'Tenosynovial Giant Cell Tumor' SubClassOf 'neoplasm' http://www.ebi.ac.uk/efo/EFO_1001892 generalized anxiety disorder 'generalized anxiety disorder' SubClassOf 'anxiety disorder' 'generalized anxiety disorder' SubClassOf 'anxiety disorder' http://www.orpha.net/ORDO/Orphanet_181368 Rare insulin-resistance syndrome 'Rare insulin-resistance syndrome' SubClassOf 'diabetes mellitus' 'Rare insulin-resistance syndrome' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://www.ebi.ac.uk/efo/EFO_0002778 BG02ES 'BG02ES' SubClassOf 'has_quality' some 'male' 'BG02ES' SubClassOf 'is_input_of' some 'ENCODE functional genome mapping' 'BG02ES' SubClassOf 'derives_from' some ('embryonic stem cell' and ('part_of' some ('embryo' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_1001891 gastrointestinal mucositis 'gastrointestinal mucositis' SubClassOf 'mucositis' 'gastrointestinal mucositis' SubClassOf 'mucositis' 'gastrointestinal mucositis' SubClassOf 'inheres_in' some ('digestive system' or ('part_of' some 'digestive system')) http://www.ebi.ac.uk/efo/EFO_0002777 Normal Human Astrocytes 'Normal Human Astrocytes' SubClassOf 'bearer_of' some 'normal' 'Normal Human Astrocytes' SubClassOf 'derives_from' some ('astrocyte' and ('part_of' some ('central nervous system' and ('part_of' some 'Homo sapiens')))) 'Normal Human Astrocytes' SubClassOf 'is_input_of' some 'ENCODE functional genome mapping' http://www.ebi.ac.uk/efo/EFO_1001890 food allergy 'food allergy' SubClassOf 'allergy' 'food allergy' SubClassOf 'allergy' http://www.ebi.ac.uk/efo/EFO_1000560 T-Cell Prolymphocytic Leukemia 'T-Cell Prolymphocytic Leukemia' SubClassOf 'lymphoid leukemia' 'T-Cell Prolymphocytic Leukemia' SubClassOf 'T-cell leukemia' 'T-Cell Prolymphocytic Leukemia' SubClassOf 'has_disease_location' some 'T cell' 'T-Cell Prolymphocytic Leukemia' SubClassOf 'lymphoid leukemia' 'T-Cell Prolymphocytic Leukemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001023 'T-Cell Prolymphocytic Leukemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000430 http://purl.obolibrary.org/obo/NCBITaxon_51336 Cabbage leaf curl virus 'Cabbage leaf curl virus' SubClassOf 'Virus' 'Cabbage leaf curl virus' SubClassOf 'Virus' http://www.ebi.ac.uk/efo/EFO_0002779 BJ 'BJ' SubClassOf 'is_input_of' some 'ENCODE functional genome mapping' 'BJ' SubClassOf 'bearer_of' some 'normal' 'BJ' SubClassOf 'derives_from' some ('fibroblast' and ('part_of' some ('prepuce of penis' and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_1000569 Testicular Leydig Cell Tumor 'Testicular Leydig Cell Tumor' SubClassOf 'testicular neoplasm' 'Testicular Leydig Cell Tumor' SubClassOf 'testicular neoplasm' 'Testicular Leydig Cell Tumor' SubClassOf 'has_disease_location' some ('testis' or ('part_of' some 'testis')) 'Testicular Leydig Cell Tumor' SubClassOf 'endocrine neoplasm' http://www.ebi.ac.uk/efo/EFO_1000567 Testicular Granulosa Cell Tumor 'Testicular Granulosa Cell Tumor' SubClassOf 'testicular neoplasm' 'Testicular Granulosa Cell Tumor' SubClassOf 'has_disease_location' some ('testis' or ('part_of' some 'testis')) 'Testicular Granulosa Cell Tumor' SubClassOf 'testicular neoplasm' 'Testicular Granulosa Cell Tumor' SubClassOf 'endocrine neoplasm' http://www.ebi.ac.uk/efo/EFO_1001899 muscular channelopathy 'muscular channelopathy' SubClassOf 'neuromuscular disease' 'muscular channelopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003939 'muscular channelopathy' SubClassOf 'neuromuscular disease' 'muscular channelopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021016 http://www.ebi.ac.uk/efo/EFO_1000568 Testicular Large Cell Calcifying Sertoli Cell Tumor 'Testicular Large Cell Calcifying Sertoli Cell Tumor' SubClassOf 'testicular neoplasm' 'Testicular Large Cell Calcifying Sertoli Cell Tumor' SubClassOf 'testicular neoplasm' 'Testicular Large Cell Calcifying Sertoli Cell Tumor' SubClassOf 'endocrine neoplasm' 'Testicular Large Cell Calcifying Sertoli Cell Tumor' SubClassOf 'has_disease_location' some ('testis' or ('part_of' some 'testis')) http://www.ebi.ac.uk/efo/EFO_1001898 mucositis 'mucositis' SubClassOf 'inflammation' 'mucositis' SubClassOf 'inflammation' 'mucositis' SubClassOf 'inheres_in' some ('digestive system' or ('part_of' some 'digestive system')) http://www.orpha.net/ORDO/Orphanet_93398 Genochondromatosis type 2 'Genochondromatosis type 2' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'Genochondromatosis type 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0007653 'Genochondromatosis type 2' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'Genochondromatosis type 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 http://www.orpha.net/ORDO/Orphanet_93397 Brachydactyly type A7 'Brachydactyly type A7' SubClassOf 'Syndrome with brachydactyly' 'Brachydactyly type A7' SubClassOf 'Syndrome with brachydactyly' http://www.orpha.net/ORDO/Orphanet_289504 Combined malonic and methylmalonic acidemia 'Combined malonic and methylmalonic acidemia' SubClassOf 'Classic organic aciduria' 'Combined malonic and methylmalonic acidemia' SubClassOf 'Classic organic aciduria' 'Combined malonic and methylmalonic acidemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002012 http://www.orpha.net/ORDO/Orphanet_93396 Brachydactyly type A2 'Brachydactyly type A2' SubClassOf 'Syndrome with brachydactyly' 'Brachydactyly type A2' SubClassOf 'Syndrome with brachydactyly' http://www.orpha.net/ORDO/Orphanet_93395 Ballard syndrome 'Ballard syndrome' SubClassOf 'Syndrome with brachydactyly' 'Ballard syndrome' SubClassOf 'Syndrome with brachydactyly' http://purl.obolibrary.org/obo/BTO_0004298 corneal epithelial cell 'corneal epithelial cell' SubClassOf 'part_of' some 'corneal epithelium' http://www.orpha.net/ORDO/Orphanet_93394 Brachydactyly type A4 'Brachydactyly type A4' SubClassOf 'Syndrome with brachydactyly' 'Brachydactyly type A4' SubClassOf 'Syndrome with brachydactyly' http://www.orpha.net/ORDO/Orphanet_276212 Mucopolysaccharidosis type 6, rapidly progressing 'Mucopolysaccharidosis type 6, rapidly progressing' SubClassOf 'Mucopolysaccharidosis type 6' 'Mucopolysaccharidosis type 6, rapidly progressing' SubClassOf 'Mucopolysaccharidosis type 6' http://www.orpha.net/ORDO/Orphanet_93399 juvenile sialidosis type II 'juvenile sialidosis type II' SubClassOf 'sialidosis type II' 'juvenile sialidosis type II' SubClassOf 'sialidosis type II' http://www.ebi.ac.uk/efo/EFO_0002761 methylation profiling by high throughput sequencing 'methylation profiling by high throughput sequencing' SubClassOf 'has_participant' some 'high throughput sequencer' http://www.ebi.ac.uk/efo/EFO_1000576 Thymic Carcinoma 'Thymic Carcinoma' SubClassOf 'carcinoma' 'Thymic Carcinoma' SubClassOf 'thymus neoplasm' 'Thymic Carcinoma' SubClassOf 'has_disease_location' some ('thymus' or ('part_of' some 'thymus')) 'Thymic Carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018079 'Thymic Carcinoma' SubClassOf 'carcinoma' 'Thymic Carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002586 'Thymic Carcinoma' SubClassOf 'thymus neoplasm' http://www.ebi.ac.uk/efo/EFO_0002760 ChIP-chip by array 'ChIP-chip by array' SubClassOf 'has_participant' some 'DNA array' http://www.ebi.ac.uk/efo/EFO_1000577 Thymic Sarcomatoid Carcinoma 'Thymic Sarcomatoid Carcinoma' SubClassOf 'carcinoma' 'Thymic Sarcomatoid Carcinoma' SubClassOf 'thymus neoplasm' 'Thymic Sarcomatoid Carcinoma' SubClassOf 'carcinoma' 'Thymic Sarcomatoid Carcinoma' SubClassOf 'Sarcomatoid Carcinoma' 'Thymic Sarcomatoid Carcinoma' SubClassOf 'thymus neoplasm' 'Thymic Sarcomatoid Carcinoma' SubClassOf 'has_disease_location' some ('thymus' or ('part_of' some 'thymus')) 'Thymic Sarcomatoid Carcinoma' SubClassOf 'Thymic Carcinoma' http://www.ebi.ac.uk/efo/EFO_0001432 obsolete_race 'obsolete_race' SubClassOf 'obsolete class' 'obsolete_race' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002763 obsolete_ChIP-seq by high throughput sequencing 'obsolete_ChIP-seq by high throughput sequencing' SubClassOf 'obsolete class' 'obsolete_ChIP-seq by high throughput sequencing' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000574 Testicular Yolk Sac Tumor 'Testicular Yolk Sac Tumor' SubClassOf 'germ cell tumor' 'Testicular Yolk Sac Tumor' SubClassOf 'testicular neoplasm' 'Testicular Yolk Sac Tumor' SubClassOf 'testicular disease' 'Testicular Yolk Sac Tumor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003403 'Testicular Yolk Sac Tumor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002874 'Testicular Yolk Sac Tumor' SubClassOf 'endodermal sinus tumor' 'Testicular Yolk Sac Tumor' SubClassOf 'has_disease_location' some ('testis' or ('part_of' some 'testis')) 'Testicular Yolk Sac Tumor' SubClassOf 'germ cell tumor' 'Testicular Yolk Sac Tumor' SubClassOf 'testicular neoplasm' http://www.ebi.ac.uk/efo/EFO_0002762 ChIP-chip by tiling array 'ChIP-chip by tiling array' SubClassOf 'has_participant' some 'tiling array' http://www.ebi.ac.uk/efo/EFO_1000575 Therapy-Related Myeloid Neoplasm 'Therapy-Related Myeloid Neoplasm' SubClassOf 'myeloid neoplasm' 'Therapy-Related Myeloid Neoplasm' SubClassOf 'myeloid neoplasm' 'Therapy-Related Myeloid Neoplasm' SubClassOf 'chronic myeloproliferative disorder' http://www.ebi.ac.uk/efo/EFO_0000102 obsolete_B lymphocyte 'obsolete_B lymphocyte' SubClassOf 'obsolete class' 'obsolete_B lymphocyte' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002765 proteomic profiling by array 'proteomic profiling by array' SubClassOf 'has_participant' some 'protein array' http://www.ebi.ac.uk/efo/EFO_1000572 Testicular Sertoli Cell Tumor 'Testicular Sertoli Cell Tumor' SubClassOf 'testicular neoplasm' 'Testicular Sertoli Cell Tumor' SubClassOf 'has_disease_location' some ('testis' or ('part_of' some 'testis')) 'Testicular Sertoli Cell Tumor' SubClassOf 'testicular neoplasm' 'Testicular Sertoli Cell Tumor' SubClassOf 'endocrine neoplasm' http://www.ebi.ac.uk/efo/EFO_0000103 obsolete_Becker's muscular dystrophy 'obsolete_Becker's muscular dystrophy' SubClassOf 'obsolete class' 'obsolete_Becker's muscular dystrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002764 ChIP-chip by SNP array 'ChIP-chip by SNP array' SubClassOf 'has_participant' some 'SNP array' http://www.ebi.ac.uk/efo/EFO_1000573 Testicular Teratoma 'Testicular Teratoma' SubClassOf 'germ cell tumor' 'Testicular Teratoma' SubClassOf 'testicular disease' 'Testicular Teratoma' SubClassOf 'testicular neoplasm' 'Testicular Teratoma' SubClassOf 'Testicular Germ Cell Tumor' 'Testicular Teratoma' SubClassOf 'has_disease_location' some ('testis' or ('part_of' some 'testis')) 'Testicular Teratoma' SubClassOf 'germ cell tumor' 'Testicular Teratoma' SubClassOf 'testicular neoplasm' http://www.ebi.ac.uk/efo/EFO_0002767 genotyping by array 'genotyping by array' SubClassOf 'has_participant' some 'DNA array' http://www.ebi.ac.uk/efo/EFO_1000570 Testicular Non-Seminomatous Germ Cell Tumor 'Testicular Non-Seminomatous Germ Cell Tumor' SubClassOf 'testicular disease' 'Testicular Non-Seminomatous Germ Cell Tumor' SubClassOf 'germ cell tumor' 'Testicular Non-Seminomatous Germ Cell Tumor' SubClassOf 'testicular neoplasm' 'Testicular Non-Seminomatous Germ Cell Tumor' SubClassOf 'germ cell tumor' 'Testicular Non-Seminomatous Germ Cell Tumor' SubClassOf 'testicular neoplasm' 'Testicular Non-Seminomatous Germ Cell Tumor' SubClassOf 'has_disease_location' some ('testis' or ('part_of' some 'testis')) 'Testicular Non-Seminomatous Germ Cell Tumor' SubClassOf 'Testicular Germ Cell Tumor' http://www.ebi.ac.uk/efo/EFO_0000105 obsolete_CNS brain cerebellum MMHCC 'obsolete_CNS brain cerebellum MMHCC' SubClassOf 'obsolete class' 'obsolete_CNS brain cerebellum MMHCC' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002766 proteomic profiling by mass spectrometer 'proteomic profiling by mass spectrometer' SubClassOf 'has_participant' some 'mass spectrometer' http://www.ebi.ac.uk/efo/EFO_1000571 Testicular Sclerosing Sertoli Cell Tumor 'Testicular Sclerosing Sertoli Cell Tumor' SubClassOf 'testicular neoplasm' 'Testicular Sclerosing Sertoli Cell Tumor' SubClassOf 'endocrine neoplasm' 'Testicular Sclerosing Sertoli Cell Tumor' SubClassOf 'has_disease_location' some ('testis' or ('part_of' some 'testis')) 'Testicular Sclerosing Sertoli Cell Tumor' SubClassOf 'testicular neoplasm' http://www.ebi.ac.uk/efo/EFO_0000106 obsolete_CNS brain hippocampus MMHCC 'obsolete_CNS brain hippocampus MMHCC' SubClassOf 'obsolete class' 'obsolete_CNS brain hippocampus MMHCC' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002769 transcription profiling by tiling array 'transcription profiling by tiling array' SubClassOf 'has_participant' some 'tiling array' http://www.orpha.net/ORDO/Orphanet_181387 Rare disorder with hypogonadotropic hypogonadism 'Rare disorder with hypogonadotropic hypogonadism' SubClassOf 'Congenital hypogonadotropic hypogonadism' 'Rare disorder with hypogonadotropic hypogonadism' SubClassOf 'Congenital hypogonadotropic hypogonadism' http://www.ebi.ac.uk/efo/EFO_0000107 obsolete_hypothalamus 'obsolete_hypothalamus' SubClassOf 'obsolete class' 'obsolete_hypothalamus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002768 transcription profiling by array 'transcription profiling by array' SubClassOf 'has_participant' some 'DNA array' http://www.ebi.ac.uk/efo/EFO_0000108 obsolete_olfactory lobe 'obsolete_olfactory lobe' SubClassOf 'obsolete class' 'obsolete_olfactory lobe' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000109 obsolete_CNS brain striatum MMHCC 'obsolete_CNS brain striatum MMHCC' SubClassOf 'obsolete class' 'obsolete_CNS brain striatum MMHCC' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000578 Thymic Small Cell Carcinoma 'Thymic Small Cell Carcinoma' SubClassOf 'carcinoma' 'Thymic Small Cell Carcinoma' SubClassOf 'thymus neoplasm' 'Thymic Small Cell Carcinoma' SubClassOf 'small cell carcinoma' 'Thymic Small Cell Carcinoma' SubClassOf 'carcinoma' 'Thymic Small Cell Carcinoma' SubClassOf 'has_disease_location' some ('thymus' or ('part_of' some 'thymus')) 'Thymic Small Cell Carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020516 'Thymic Small Cell Carcinoma' SubClassOf 'thymus neoplasm' http://www.ebi.ac.uk/efo/EFO_1000579 Thymic Squamous Cell Carcinoma 'Thymic Squamous Cell Carcinoma' SubClassOf 'squamous cell carcinoma' 'Thymic Squamous Cell Carcinoma' SubClassOf 'thymus neoplasm' 'Thymic Squamous Cell Carcinoma' SubClassOf 'squamous cell carcinoma' 'Thymic Squamous Cell Carcinoma' SubClassOf 'thymus neoplasm' 'Thymic Squamous Cell Carcinoma' SubClassOf 'has_disease_location' some ('thymus' or ('part_of' some 'thymus')) 'Thymic Squamous Cell Carcinoma' SubClassOf 'Thymic Carcinoma' http://www.orpha.net/ORDO/Orphanet_289513 12q15q21.1 microdeletion syndrome '12q15q21.1 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 12' '12q15q21.1 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 12' http://purl.obolibrary.org/obo/CHEBI_78053 docosapentaenoate 'docosapentaenoate' SubClassOf 'lipid' 'docosapentaenoate' SubClassOf 'lipid' http://www.orpha.net/ORDO/Orphanet_983 Testicular regression syndrome 'Testicular regression syndrome' SubClassOf 'Male infertility due to gonadal dysgenesis' 'Testicular regression syndrome' SubClassOf '46,XY disorder of gonadal development' 'Testicular regression syndrome' SubClassOf 'Male infertility due to gonadal dysgenesis' 'Testicular regression syndrome' SubClassOf '46,XY disorder of gonadal development' http://www.orpha.net/ORDO/Orphanet_168491 Late infantile neuronal ceroid lipofuscinosis 'Late infantile neuronal ceroid lipofuscinosis' SubClassOf 'Neuronal ceroid lipofuscinosis' 'Late infantile neuronal ceroid lipofuscinosis' SubClassOf 'Progressive myoclonic epilepsy' 'Late infantile neuronal ceroid lipofuscinosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044976 'Late infantile neuronal ceroid lipofuscinosis' SubClassOf 'Neuronal ceroid lipofuscinosis' 'Late infantile neuronal ceroid lipofuscinosis' SubClassOf 'Progressive myoclonic epilepsy' http://www.ebi.ac.uk/efo/EFO_0002673 antiprogestin 'antiprogestin' SubClassOf 'has_role' some 'drug role' http://www.orpha.net/ORDO/Orphanet_254803 Mitochondrial DNA depletion syndrome, encephalomyopathic form 'Mitochondrial DNA depletion syndrome, encephalomyopathic form' SubClassOf 'Neurometabolic disease' 'Mitochondrial DNA depletion syndrome, encephalomyopathic form' SubClassOf 'Mitochondrial DNA depletion syndrome' 'Mitochondrial DNA depletion syndrome, encephalomyopathic form' SubClassOf 'Neurometabolic disease' 'Mitochondrial DNA depletion syndrome, encephalomyopathic form' SubClassOf 'Mitochondrial DNA depletion syndrome' http://www.orpha.net/ORDO/Orphanet_230839 Ehlers-Danlos syndrome due to tenascin-X deficiency 'Ehlers-Danlos syndrome due to tenascin-X deficiency' SubClassOf 'Ehlers-Danlos syndrome' 'Ehlers-Danlos syndrome due to tenascin-X deficiency' SubClassOf 'Rare disease with dentinogenesis imperfecta' 'Ehlers-Danlos syndrome due to tenascin-X deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015216 'Ehlers-Danlos syndrome due to tenascin-X deficiency' SubClassOf 'Ehlers-Danlos syndrome' 'Ehlers-Danlos syndrome due to tenascin-X deficiency' SubClassOf 'Rare disease with dentinogenesis imperfecta' 'Ehlers-Danlos syndrome due to tenascin-X deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015880 http://www.orpha.net/ORDO/Orphanet_254807 Multiple mitochondrial DNA deletion syndrome 'Multiple mitochondrial DNA deletion syndrome' SubClassOf 'Mitochondrial DNA maintenance syndrome' 'Multiple mitochondrial DNA deletion syndrome' SubClassOf 'Mitochondrial DNA maintenance syndrome' http://www.orpha.net/ORDO/Orphanet_978 ADULT syndrome 'ADULT syndrome' SubClassOf 'Genetic syndrome with limb reduction defects' 'ADULT syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'ADULT syndrome' SubClassOf 'EEC syndrome and related syndrome' 'ADULT syndrome' SubClassOf 'Genetic syndrome with limb reduction defects' 'ADULT syndrome' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' 'ADULT syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'ADULT syndrome' SubClassOf 'EEC syndrome and related syndrome' 'ADULT syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 http://www.orpha.net/ORDO/Orphanet_977 Adrenomyodystrophy 'Adrenomyodystrophy' SubClassOf 'Genetic chronic primary adrenal insufficiency' 'Adrenomyodystrophy' SubClassOf 'Genetic chronic primary adrenal insufficiency' 'Adrenomyodystrophy' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://www.orpha.net/ORDO/Orphanet_168486 Congenital neuronal ceroid lipofuscinosis 'Congenital neuronal ceroid lipofuscinosis' SubClassOf 'Neuronal ceroid lipofuscinosis' 'Congenital neuronal ceroid lipofuscinosis' SubClassOf 'Progressive myoclonic epilepsy' 'Congenital neuronal ceroid lipofuscinosis' SubClassOf 'Infantile neuronal ceroid lipofuscinosis' http://www.orpha.net/ORDO/Orphanet_998 Albinism-deafness syndrome 'Albinism-deafness syndrome' SubClassOf 'Syndromic genetic deafness' 'Albinism-deafness syndrome' SubClassOf 'Genetic hypopigmentation of the skin' 'Albinism-deafness syndrome' SubClassOf 'Developmental anomaly of metabolic origin' 'Albinism-deafness syndrome' SubClassOf 'Syndromic genetic deafness' 'Albinism-deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 'Albinism-deafness syndrome' SubClassOf 'Genetic hypopigmentation of the skin' 'Albinism-deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043209 http://www.orpha.net/ORDO/Orphanet_994 Fetal akinesia deformation sequence 'Fetal akinesia deformation sequence' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Fetal akinesia deformation sequence' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015222 'Fetal akinesia deformation sequence' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015929 'Fetal akinesia deformation sequence' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Fetal akinesia deformation sequence' SubClassOf 'Arthrogryposis multiplex congenita' http://www.orpha.net/ORDO/Orphanet_254822 Mitochondrial oxidative phosphorylation disorder with no known mechanism 'Mitochondrial oxidative phosphorylation disorder with no known mechanism' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' 'Mitochondrial oxidative phosphorylation disorder with no known mechanism' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' http://www.orpha.net/ORDO/Orphanet_991 PAGOD syndrome 'PAGOD syndrome' SubClassOf 'Syndrome with 46,XY disorder of sex development' 'PAGOD syndrome' SubClassOf 'Syndrome with 46,XX disorder of sex development' 'PAGOD syndrome' SubClassOf 'Syndrome with disorder of sex development of gynecological interest' 'PAGOD syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'PAGOD syndrome' SubClassOf 'Syndrome with 46,XY disorder of sex development' 'PAGOD syndrome' SubClassOf 'Syndrome with 46,XX disorder of sex development' 'PAGOD syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015880 'PAGOD syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015846 'PAGOD syndrome' SubClassOf 'Syndrome with disorder of sex development of gynecological interest' 'PAGOD syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.ebi.ac.uk/efo/EFO_0002662 dendritic cell-derived osteoclast 'dendritic cell-derived osteoclast' SubClassOf 'participates_in' some 'experimental process' 'dendritic cell-derived osteoclast' SubClassOf 'derives_from' some 'dendritic cell' http://www.orpha.net/ORDO/Orphanet_990 Agnathia - holoprosencephaly - situs inversus 'Agnathia - holoprosencephaly - situs inversus' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Agnathia - holoprosencephaly - situs inversus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Agnathia - holoprosencephaly - situs inversus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Agnathia - holoprosencephaly - situs inversus' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.ebi.ac.uk/efo/EFO_0001330 obsolete_C57BL/6J 'obsolete_C57BL/6J' SubClassOf 'obsolete class' 'obsolete_C57BL/6J' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002661 dendritic cell-derived intermediate cell 'dendritic cell-derived intermediate cell' SubClassOf 'located_in' some 'hematopoietic system' 'dendritic cell-derived intermediate cell' SubClassOf 'derives_from' some 'dendritic cell' http://www.ebi.ac.uk/efo/EFO_0001333 obsolete_jejunum 'obsolete_jejunum' SubClassOf 'obsolete class' 'obsolete_jejunum' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001335 obsolete_behavioural disease 'obsolete_behavioural disease' SubClassOf 'obsolete class' 'obsolete_behavioural disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002666 monocyte-derived osteoclast 'monocyte-derived osteoclast' SubClassOf 'participates_in' some 'experimental process' http://www.ebi.ac.uk/efo/EFO_0001334 obsolete_ileum 'obsolete_ileum' SubClassOf 'obsolete class' 'obsolete_ileum' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002665 monocyte-derived intermediate cell 'monocyte-derived intermediate cell' SubClassOf 'located_in' some 'hematopoietic system' http://www.ebi.ac.uk/efo/EFO_0002669 ENBREL 'ENBREL' SubClassOf 'has_role' some 'drug role' http://www.orpha.net/ORDO/Orphanet_254818 Ataxia neuropathy spectrum 'Ataxia neuropathy spectrum' SubClassOf 'Multiple mitochondrial DNA deletion syndrome' 'Ataxia neuropathy spectrum' SubClassOf 'Multiple mitochondrial DNA deletion syndrome' http://www.orpha.net/ORDO/Orphanet_989 Hypoglossia - hypodactyly 'Hypoglossia - hypodactyly' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Hypoglossia - hypodactyly' SubClassOf 'Genetic syndrome with limb reduction defects' 'Hypoglossia - hypodactyly' SubClassOf 'Oromandibular-limb hypogenesis syndrome' 'Hypoglossia - hypodactyly' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Hypoglossia - hypodactyly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007 'Hypoglossia - hypodactyly' SubClassOf 'Genetic syndrome with limb reduction defects' 'Hypoglossia - hypodactyly' SubClassOf 'Oromandibular-limb hypogenesis syndrome' http://www.orpha.net/ORDO/Orphanet_988 Absent tibia - polydactyly 'Absent tibia - polydactyly' SubClassOf 'Genetic syndrome with limb reduction defects' 'Absent tibia - polydactyly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0008572 'Absent tibia - polydactyly' SubClassOf 'Genetic syndrome with limb reduction defects' 'Absent tibia - polydactyly' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' http://www.ebi.ac.uk/efo/EFO_0001360 type II diabetes mellitus 'type II diabetes mellitus' SubClassOf 'diabetes mellitus' 'type II diabetes mellitus' SubClassOf 'diabetes mellitus' http://www.ebi.ac.uk/efo/EFO_0002690 systemic lupus erythematosus 'systemic lupus erythematosus' SubClassOf 'rheumatic disease' 'systemic lupus erythematosus' SubClassOf 'has_disease_location' some 'skeletal joint' 'systemic lupus erythematosus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004670 http://www.ebi.ac.uk/efo/EFO_0001362 obsolete_pulmonary arterial hypertension 'obsolete_pulmonary arterial hypertension' SubClassOf 'obsolete class' 'obsolete_pulmonary arterial hypertension' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002693 DNA-seq 'DNA-seq' SubClassOf 'has_input' some 'material entity' 'DNA-seq' SubClassOf 'has_participant' some 'high throughput sequencer' 'DNA-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0001361 pulmonary arterial hypertension 'pulmonary arterial hypertension' SubClassOf 'vascular disease' 'pulmonary arterial hypertension' SubClassOf 'hypertension' 'pulmonary arterial hypertension' SubClassOf 'has_disease_location' some 'pulmonary artery' 'pulmonary arterial hypertension' SubClassOf http://purl.obolibrary.org/obo/MONDO_0005149 'pulmonary arterial hypertension' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://www.ebi.ac.uk/efo/EFO_0002692 ChIP-seq 'ChIP-seq' SubClassOf 'has_participant' some 'high throughput sequencer' 'ChIP-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0001364 obsolete_organ of corti 'obsolete_organ of corti' SubClassOf 'obsolete class' 'obsolete_organ of corti' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002695 obsolete_RNA-seq 'obsolete_RNA-seq' SubClassOf 'obsolete class' 'obsolete_RNA-seq' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001363 obsolete_inner ear structure 'obsolete_inner ear structure' SubClassOf 'obsolete class' 'obsolete_inner ear structure' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001366 obsolete_dentate gyrus 'obsolete_dentate gyrus' SubClassOf 'obsolete class' 'obsolete_dentate gyrus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002697 assay by high throughput sequencer 'assay by high throughput sequencer' EquivalentTo 'has_participant' some 'high throughput sequencer' http://www.ebi.ac.uk/efo/EFO_0002696 assay by array 'assay by array' EquivalentTo 'has_participant' some 'array' http://www.ebi.ac.uk/efo/EFO_0001365 age-related macular degeneration 'age-related macular degeneration' SubClassOf 'eye disease' 'age-related macular degeneration' SubClassOf 'sensory system disease' 'age-related macular degeneration' SubClassOf 'has_disease_location' some 'eye' 'age-related macular degeneration' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002175 http://www.ebi.ac.uk/efo/EFO_0001368 obsolete_intercostal muscle 'obsolete_intercostal muscle' SubClassOf 'obsolete class' 'obsolete_intercostal muscle' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001367 obsolete_embryo stage 'obsolete_embryo stage' SubClassOf 'obsolete class' 'obsolete_embryo stage' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001369 vertebral column structure 'vertebral column structure' EquivalentTo 'part_of' some 'vertebral column structure' 'vertebral column structure' SubClassOf 'part_of' some 'postcranial axial skeleton' http://www.orpha.net/ORDO/Orphanet_230857 Ehlers-Danlos/osteogenesis imperfecta syndrome 'Ehlers-Danlos/osteogenesis imperfecta syndrome' SubClassOf 'Ehlers-Danlos syndrome' 'Ehlers-Danlos/osteogenesis imperfecta syndrome' SubClassOf 'Primary bone dysplasia with decreased bone density' 'Ehlers-Danlos/osteogenesis imperfecta syndrome' SubClassOf 'disease has feature' some 'Osteogenesis imperfecta' 'Ehlers-Danlos/osteogenesis imperfecta syndrome' SubClassOf 'Ehlers-Danlos syndrome' 'Ehlers-Danlos/osteogenesis imperfecta syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 'Ehlers-Danlos/osteogenesis imperfecta syndrome' SubClassOf 'Primary bone dysplasia with decreased bone density' http://www.orpha.net/ORDO/Orphanet_999 Ermine phenotype 'Ermine phenotype' SubClassOf 'Syndromic genetic deafness' 'Ermine phenotype' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_230851 Ehlers-Danlos syndrome, cardiac valvular type 'Ehlers-Danlos syndrome, cardiac valvular type' SubClassOf 'Ehlers-Danlos syndrome' 'Ehlers-Danlos syndrome, cardiac valvular type' SubClassOf 'Rare syndrome with cardiac malformations' 'Ehlers-Danlos syndrome, cardiac valvular type' SubClassOf 'Ehlers-Danlos syndrome' 'Ehlers-Danlos syndrome, cardiac valvular type' SubClassOf 'Rare syndrome with cardiac malformations' http://www.ebi.ac.uk/efo/EFO_0002684 obsolete_pupa 'obsolete_pupa' SubClassOf 'obsolete class' 'obsolete_pupa' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002686 atopy 'atopy' SubClassOf 'allergy' 'atopy' SubClassOf 'allergy' http://www.ebi.ac.uk/efo/EFO_0002685 obsolete_rosette stage 'obsolete_rosette stage' SubClassOf 'obsolete class' 'obsolete_rosette stage' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001357 sporadic amyotrophic lateral sclerosis 'sporadic amyotrophic lateral sclerosis' SubClassOf 'amyotrophic lateral sclerosis' 'sporadic amyotrophic lateral sclerosis' SubClassOf 'amyotrophic lateral sclerosis' 'familial amyotrophic lateral sclerosis' DisjointWith 'sporadic amyotrophic lateral sclerosis' 'sporadic amyotrophic lateral sclerosis' SubClassOf 'realized_in' some ('disease course' and ('has part' some 'neurodegeneration')) http://www.ebi.ac.uk/efo/EFO_0002688 obsolete_myelodysplastic syndrome (MDS)-like 'obsolete_myelodysplastic syndrome (MDS)-like' SubClassOf 'obsolete class' 'obsolete_myelodysplastic syndrome (MDS)-like' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001356 familial amyotrophic lateral sclerosis 'familial amyotrophic lateral sclerosis' SubClassOf 'amyotrophic lateral sclerosis' 'familial amyotrophic lateral sclerosis' EquivalentTo 'amyotrophic lateral sclerosis' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) 'familial amyotrophic lateral sclerosis' SubClassOf 'realized_in' some ('disease course' and ('has part' some 'neurodegeneration')) 'familial amyotrophic lateral sclerosis' SubClassOf 'amyotrophic lateral sclerosis' 'familial amyotrophic lateral sclerosis' SubClassOf 'Genetic motor neuron disease' 'familial amyotrophic lateral sclerosis' DisjointWith 'sporadic amyotrophic lateral sclerosis' http://www.ebi.ac.uk/efo/EFO_0002687 ischemia reperfusion injury 'ischemia reperfusion injury' SubClassOf 'has_disease_location' some 'myocardium' 'ischemia reperfusion injury' SubClassOf 'cardiovascular disease' http://www.ebi.ac.uk/efo/EFO_0001359 type I diabetes mellitus 'type I diabetes mellitus' SubClassOf 'diabetes mellitus' 'type I diabetes mellitus' SubClassOf 'diabetes mellitus' 'type I diabetes mellitus' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_causes_feature some 'diabetic ketoacidosis' 'type I diabetes mellitus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000569 http://www.ebi.ac.uk/efo/EFO_0001358 post-traumatic stress disorder 'post-traumatic stress disorder' SubClassOf 'anxiety disorder' 'post-traumatic stress disorder' SubClassOf 'anxiety disorder' 'post-traumatic stress disorder' SubClassOf 'neurotic disorder' http://www.ebi.ac.uk/efo/EFO_0002689 antiphospholipid syndrome 'antiphospholipid syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'antiphospholipid syndrome' SubClassOf 'type II hypersensitivity reaction disease' http://www.orpha.net/ORDO/Orphanet_230845 Ehlers-Danlos syndrome, vascular-like type 'Ehlers-Danlos syndrome, vascular-like type' SubClassOf 'Ehlers-Danlos syndrome' 'Ehlers-Danlos syndrome, vascular-like type' SubClassOf 'vascular disease' 'Ehlers-Danlos syndrome, vascular-like type' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Ehlers-Danlos syndrome, vascular-like type' SubClassOf 'Ehlers-Danlos syndrome' http://www.orpha.net/ORDO/Orphanet_254851 Maternally-inherited mitochondrial dystonia 'Maternally-inherited mitochondrial dystonia' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' 'Maternally-inherited mitochondrial dystonia' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' http://www.ebi.ac.uk/efo/EFO_0001380 hypopituitarism 'hypopituitarism' SubClassOf 'endocrine system disease' 'hypopituitarism' SubClassOf 'pituitary gland disease' http://www.orpha.net/ORDO/Orphanet_168451 Spondyloepimetaphyseal dysplasia - abnormal dentition 'Spondyloepimetaphyseal dysplasia - abnormal dentition' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Spondyloepimetaphyseal dysplasia - abnormal dentition' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' http://www.ebi.ac.uk/efo/EFO_0001381 obsolete_Peyer's patch 'obsolete_Peyer's patch' SubClassOf 'obsolete class' 'obsolete_Peyer's patch' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001384 obsolete_prefrontal cortex 'obsolete_prefrontal cortex' SubClassOf 'obsolete class' 'obsolete_prefrontal cortex' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_254854 Pure mitochondrial myopathy 'Pure mitochondrial myopathy' SubClassOf 'Maternally-inherited mitochondrial myopathy' 'Pure mitochondrial myopathy' SubClassOf 'Maternally-inherited mitochondrial myopathy' http://www.ebi.ac.uk/efo/EFO_0001383 obsolete_postcentral gyrus 'obsolete_postcentral gyrus' SubClassOf 'obsolete class' 'obsolete_postcentral gyrus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001386 obsolete_uvula 'obsolete_uvula' SubClassOf 'obsolete class' 'obsolete_uvula' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_181428 Hyperalphalipoproteinemia 'Hyperalphalipoproteinemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001336 'Hyperalphalipoproteinemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021187 'Hyperalphalipoproteinemia' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Hyperalphalipoproteinemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0037748 http://www.ebi.ac.uk/efo/EFO_0001385 obsolete_tibialis anterior muscle 'obsolete_tibialis anterior muscle' SubClassOf 'obsolete class' 'obsolete_tibialis anterior muscle' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001388 obsolete_laryngopharynx 'obsolete_laryngopharynx' SubClassOf 'obsolete class' 'obsolete_laryngopharynx' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001387 obsolete_submandibular gland 'obsolete_submandibular gland' SubClassOf 'obsolete class' 'obsolete_submandibular gland' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_181425 Major hypertriglyceridemia 'Major hypertriglyceridemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001336 'Major hypertriglyceridemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021187 'Major hypertriglyceridemia' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://www.ebi.ac.uk/efo/EFO_0001389 obsolete_lacrimal gland 'obsolete_lacrimal gland' SubClassOf 'obsolete class' 'obsolete_lacrimal gland' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_254846 Isolated oxidative phosphorylation complex disorder 'Isolated oxidative phosphorylation complex disorder' SubClassOf 'Mitochondrial oxidative phosphorylation disorder' 'Isolated oxidative phosphorylation complex disorder' SubClassOf 'Mitochondrial oxidative phosphorylation disorder' http://www.orpha.net/ORDO/Orphanet_168443 Spondyloepimetaphyseal dysplasia - hypotrichosis 'Spondyloepimetaphyseal dysplasia - hypotrichosis' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Spondyloepimetaphyseal dysplasia - hypotrichosis' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' http://www.ebi.ac.uk/efo/EFO_0001371 obsolete_vertebra 'obsolete_vertebra' SubClassOf 'obsolete class' 'obsolete_vertebra' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001370 obsolete_intervertebral disc 'obsolete_intervertebral disc' SubClassOf 'obsolete class' 'obsolete_intervertebral disc' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001373 obsolete_precentral gyrus 'obsolete_precentral gyrus' SubClassOf 'obsolete class' 'obsolete_precentral gyrus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_252202 Constitutional mismatch repair deficiency syndrome 'Constitutional mismatch repair deficiency syndrome' SubClassOf 'Inherited cancer-predisposing syndrome' 'Constitutional mismatch repair deficiency syndrome' SubClassOf 'Rare genetic neurological disorder' 'Constitutional mismatch repair deficiency syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016756 'Constitutional mismatch repair deficiency syndrome' SubClassOf 'Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells' 'Constitutional mismatch repair deficiency syndrome' SubClassOf 'Inherited cancer-predisposing syndrome' http://www.orpha.net/ORDO/Orphanet_254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency 'Mitochondrial myopathy with reversible cytochrome C oxidase deficiency' SubClassOf 'Maternally-inherited mitochondrial myopathy' 'Mitochondrial myopathy with reversible cytochrome C oxidase deficiency' SubClassOf 'Mitochondrial myopathy' 'Mitochondrial myopathy with reversible cytochrome C oxidase deficiency' SubClassOf 'Maternally-inherited mitochondrial myopathy' http://www.orpha.net/ORDO/Orphanet_168448 Spondyloepimetaphyseal dysplasia, Bieganski type 'Spondyloepimetaphyseal dysplasia, Bieganski type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Spondyloepimetaphyseal dysplasia, Bieganski type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_181437 Rare syndromic dyslipidemia 'Rare syndromic dyslipidemia' EquivalentTo 'Disorder of lipid metabolism' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021127) 'Rare syndromic dyslipidemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Rare syndromic dyslipidemia' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Rare syndromic dyslipidemia' SubClassOf 'Disorder of lipid metabolism' http://www.ebi.ac.uk/efo/EFO_0001376 synovial sarcoma 'synovial sarcoma' SubClassOf 'sarcoma' 'synovial sarcoma' SubClassOf 'soft tissue sarcoma' http://www.ebi.ac.uk/efo/EFO_0001379 endocrine system disease 'endocrine system disease' SubClassOf 'disease' 'endocrine system disease' EquivalentTo 'has_disease_location' some ('endocrine system' or ('part_of' some 'endocrine system')) 'endocrine system disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021199 http://www.ebi.ac.uk/efo/EFO_0001378 multiple myeloma 'multiple myeloma' SubClassOf 'plasma cell neoplasm' 'multiple myeloma' SubClassOf 'myeloid neoplasm' 'multiple myeloma' SubClassOf 'plasma cell neoplasm' 'multiple myeloma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016180 http://www.ebi.ac.uk/efo/EFO_1001806 macrophage activation syndrome 'macrophage activation syndrome' SubClassOf 'immune system disease' 'macrophage activation syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015938 'macrophage activation syndrome' SubClassOf 'immune system disease' 'macrophage activation syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015542 http://www.ebi.ac.uk/efo/EFO_1001805 lobomycosis 'lobomycosis' SubClassOf 'infectious disease' 'lobomycosis' SubClassOf 'infectious disease' 'lobomycosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002040 http://www.orpha.net/ORDO/Orphanet_157794 Hereditary mixed polyposis syndrome 'Hereditary mixed polyposis syndrome' SubClassOf 'Inherited cancer-predisposing syndrome' 'Hereditary mixed polyposis syndrome' SubClassOf 'Genetic intestinal polyposis' 'Hereditary mixed polyposis syndrome' SubClassOf 'Genetic intestinal polyposis' 'Hereditary mixed polyposis syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015185 http://www.ebi.ac.uk/efo/EFO_1001804 Livedo reticularis 'Livedo reticularis' SubClassOf 'skin disease' 'Livedo reticularis' SubClassOf 'skin disease' http://purl.obolibrary.org/obo/PATO_0000461 normal 'normal' DisjointWith 'cancer site' 'normal' DisjointWith 'disease staging' 'normal' DisjointWith 'disease' http://www.ebi.ac.uk/efo/EFO_1001803 lingual thyroid 'lingual thyroid' SubClassOf 'thyroid disease' 'lingual thyroid' SubClassOf 'thyroid disease' 'lingual thyroid' SubClassOf 'has_disease_location' some ('tongue' or ('part_of' some 'tongue')) http://www.ebi.ac.uk/efo/EFO_1001802 isolated noncompaction of the ventricular myocardium 'isolated noncompaction of the ventricular myocardium' SubClassOf 'familial cardiomyopathy' 'isolated noncompaction of the ventricular myocardium' SubClassOf 'familial cardiomyopathy' http://www.ebi.ac.uk/efo/EFO_1001801 intracranial subdural hematoma 'intracranial subdural hematoma' SubClassOf 'cerebrovascular disorder' 'intracranial subdural hematoma' SubClassOf 'cerebrovascular disorder' http://www.ebi.ac.uk/efo/EFO_1001800 Intervertebral Disc Displacement 'Intervertebral Disc Displacement' SubClassOf 'has_disease_location' some 'intervertebral disk' http://www.orpha.net/ORDO/Orphanet_254857 Lethal infantile mitochondrial myopathy 'Lethal infantile mitochondrial myopathy' SubClassOf 'Maternally-inherited mitochondrial myopathy' 'Lethal infantile mitochondrial myopathy' SubClassOf 'Maternally-inherited mitochondrial myopathy' 'Lethal infantile mitochondrial myopathy' SubClassOf 'Mitochondrial myopathy' http://www.ebi.ac.uk/efo/EFO_1001809 Marchiafava-Bignami Disease 'Marchiafava-Bignami Disease' SubClassOf 'neurodegenerative disease' 'Marchiafava-Bignami Disease' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Marchiafava-Bignami Disease' SubClassOf 'neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_157798 Hyperplastic polyposis syndrome 'Hyperplastic polyposis syndrome' SubClassOf 'Genetic intestinal polyposis' 'Hyperplastic polyposis syndrome' SubClassOf 'Inherited cancer-predisposing syndrome' 'Hyperplastic polyposis syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015185 'Hyperplastic polyposis syndrome' SubClassOf 'Genetic intestinal polyposis' http://www.ebi.ac.uk/efo/EFO_1001808 manganese poisoning 'manganese poisoning' SubClassOf 'nervous system heavy metal poisoning' 'manganese poisoning' SubClassOf 'poisoning' 'manganese poisoning' SubClassOf 'nervous system heavy metal poisoning' 'manganese poisoning' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://www.ebi.ac.uk/efo/EFO_1001807 malacoplakia 'malacoplakia' SubClassOf 'autoimmune disease' 'malacoplakia' SubClassOf 'intestinal disease' 'malacoplakia' SubClassOf 'autoimmune disease' 'malacoplakia' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://www.orpha.net/ORDO/Orphanet_254830 Mitochondrial substrate carrier disorder 'Mitochondrial substrate carrier disorder' SubClassOf 'Mitochondrial membrane transport disorder' 'Mitochondrial substrate carrier disorder' SubClassOf 'Mitochondrial membrane transport disorder' http://www.orpha.net/ORDO/Orphanet_254834 Mitochondrial protein import disorder 'Mitochondrial protein import disorder' SubClassOf 'Mitochondrial membrane transport disorder' 'Mitochondrial protein import disorder' SubClassOf 'Mitochondrial membrane transport disorder' http://purl.obolibrary.org/obo/HANCESTRO_0290 genetically isolated population 'genetically isolated population' EquivalentTo 'hasAncestryStatus' only 'genetically isolated ancestry' http://www.orpha.net/ORDO/Orphanet_181402 Syndrome with hypoparathyroidism 'Syndrome with hypoparathyroidism' SubClassOf 'Genetic hypoparathyroidism' 'Syndrome with hypoparathyroidism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Syndrome with hypoparathyroidism' SubClassOf 'Genetic hypoparathyroidism' http://www.ebi.ac.uk/efo/EFO_1001817 ocular posterior capsular rupture 'ocular posterior capsular rupture' SubClassOf 'eye disease' 'ocular posterior capsular rupture' SubClassOf 'eye disease' http://www.ebi.ac.uk/efo/EFO_1001816 neutropenic enterocolitis 'neutropenic enterocolitis' SubClassOf 'enterocolitis' 'neutropenic enterocolitis' SubClassOf 'enterocolitis' http://www.ebi.ac.uk/efo/EFO_1001815 nervous system heavy metal poisoning 'nervous system heavy metal poisoning' SubClassOf 'heavy metal poisoning' 'nervous system heavy metal poisoning' SubClassOf 'heavy metal poisoning' 'nervous system heavy metal poisoning' SubClassOf 'has_disease_location' some ('nervous system' or ('part_of' some 'nervous system')) http://www.ebi.ac.uk/efo/EFO_1001814 nephrogenic fibrosing dermopathy 'nephrogenic fibrosing dermopathy' SubClassOf 'skin disease' 'nephrogenic fibrosing dermopathy' SubClassOf 'skin disease' http://www.ebi.ac.uk/efo/EFO_1001813 Nasal Septal Perforation 'Nasal Septal Perforation' SubClassOf 'respiratory system disease' 'Nasal Septal Perforation' SubClassOf 'respiratory system disease' 'Nasal Septal Perforation' SubClassOf 'has_disease_location' some ('nasal septum' or ('part_of' some 'nasal septum')) http://www.ebi.ac.uk/efo/EFO_1001812 myringosclerosis 'myringosclerosis' SubClassOf 'sensory system disease' 'myringosclerosis' SubClassOf 'has_disease_location' some ('ear' or ('part_of' some 'ear')) http://www.ebi.ac.uk/efo/EFO_1001811 Monteggia's fracture 'Monteggia's fracture' SubClassOf 'ulna fracture' 'Monteggia's fracture' SubClassOf 'ulna fracture' http://www.ebi.ac.uk/efo/EFO_1001810 mercury poisoning 'mercury poisoning' SubClassOf 'nervous system heavy metal poisoning' 'mercury poisoning' SubClassOf 'poisoning' 'mercury poisoning' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'mercury poisoning' SubClassOf 'nervous system heavy metal poisoning' http://www.orpha.net/ORDO/Orphanet_254827 Mitochondrial membrane transport disorder 'Mitochondrial membrane transport disorder' SubClassOf 'Mitochondrial disease' 'Mitochondrial membrane transport disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004069 http://www.ebi.ac.uk/efo/EFO_1001819 orbital myositis 'orbital myositis' SubClassOf 'myositis' 'orbital myositis' SubClassOf 'has_disease_location' some ('eye' or ('part_of' some 'eye')) 'orbital myositis' SubClassOf 'myositis' http://www.ebi.ac.uk/efo/EFO_1001818 oral submucous fibrosis 'oral submucous fibrosis' SubClassOf 'oral cavity cancer' 'oral submucous fibrosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019038 'oral submucous fibrosis' SubClassOf 'mouth disease' 'oral submucous fibrosis' SubClassOf 'oral cavity cancer' http://www.orpha.net/ORDO/Orphanet_169796 Moderately severe hemophilia B 'Moderately severe hemophilia B' SubClassOf 'Hemophilia B' 'Moderately severe hemophilia B' SubClassOf 'Hemophilia B' http://www.ebi.ac.uk/efo/EFO_0001391 obsolete_somatosensory cortex 'obsolete_somatosensory cortex' SubClassOf 'obsolete class' 'obsolete_somatosensory cortex' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_169793 Severe hemophilia B 'Severe hemophilia B' SubClassOf 'Hemophilia B' 'Severe hemophilia B' SubClassOf 'Hemophilia B' http://www.ebi.ac.uk/efo/EFO_0001390 obsolete_corpus callosum 'obsolete_corpus callosum' SubClassOf 'obsolete class' 'obsolete_corpus callosum' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001393 obsolete_synovial membrane 'obsolete_synovial membrane' SubClassOf 'obsolete class' 'obsolete_synovial membrane' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001392 obsolete_subthalamic nucleus 'obsolete_subthalamic nucleus' SubClassOf 'obsolete class' 'obsolete_subthalamic nucleus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001395 obsolete_axilla 'obsolete_axilla' SubClassOf 'obsolete class' 'obsolete_axilla' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_254843 Exercise intolerance with lactic acidosis 'Exercise intolerance with lactic acidosis' SubClassOf 'Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes' 'Exercise intolerance with lactic acidosis' SubClassOf 'Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes' http://www.ebi.ac.uk/efo/EFO_0001394 obsolete_pons 'obsolete_pons' SubClassOf 'obsolete class' 'obsolete_pons' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001397 obsolete_inguinal region 'obsolete_inguinal region' SubClassOf 'obsolete class' 'obsolete_inguinal region' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001820 oroficial granulomatosis 'oroficial granulomatosis' SubClassOf 'autoimmune disease' 'oroficial granulomatosis' SubClassOf 'autoimmune disease' http://www.ebi.ac.uk/efo/EFO_0001396 obsolete_femur 'obsolete_femur' SubClassOf 'obsolete class' 'obsolete_femur' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001399 obsolete_pulmonary artery 'obsolete_pulmonary artery' SubClassOf 'obsolete class' 'obsolete_pulmonary artery' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0001398 obsolete_humerus 'obsolete_humerus' SubClassOf 'obsolete class' 'obsolete_humerus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_169799 Mild hemophilia B 'Mild hemophilia B' SubClassOf 'Hemophilia B' 'Mild hemophilia B' SubClassOf 'Hemophilia B' http://www.orpha.net/ORDO/Orphanet_181412 Adrenogenital syndrome 'Adrenogenital syndrome' SubClassOf 'adrenal gland disease' 'Adrenogenital syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0045012 http://www.ebi.ac.uk/efo/EFO_1001828 post-exercise hypotension 'post-exercise hypotension' SubClassOf 'hypotension' 'post-exercise hypotension' SubClassOf 'hypotension' http://www.ebi.ac.uk/efo/EFO_1001827 post-concussion syndrome 'post-concussion syndrome' SubClassOf 'mental or behavioural disorder' 'post-concussion syndrome' SubClassOf 'mental or behavioural disorder' http://www.ebi.ac.uk/efo/EFO_1001826 Poroma 'Poroma' SubClassOf 'skin neoplasm' 'Poroma' SubClassOf 'skin neoplasm' http://www.ebi.ac.uk/efo/EFO_1001825 pleurisy 'pleurisy' SubClassOf 'lung disease' 'pleurisy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002037 'pleurisy' SubClassOf 'lung disease' 'pleurisy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043786 'pleurisy' SubClassOf 'has_disease_location' some ('pleura' or ('part_of' some 'pleura')) http://www.ebi.ac.uk/efo/EFO_1001824 pinguecula 'pinguecula' SubClassOf 'Conjunctival Disorder' 'pinguecula' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000949 'pinguecula' SubClassOf 'Conjunctival Disorder' http://www.ebi.ac.uk/efo/EFO_1001823 Periprosthetic Fractures 'Periprosthetic Fractures' SubClassOf 'bone fracture' 'Periprosthetic Fractures' SubClassOf 'bone fracture' http://www.ebi.ac.uk/efo/EFO_1001822 Paroxysmal Hemicrania 'Paroxysmal Hemicrania' SubClassOf 'head and neck disorder' 'Paroxysmal Hemicrania' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015530 'Paroxysmal Hemicrania' SubClassOf 'head and neck disorder' http://www.ebi.ac.uk/efo/EFO_1001821 osteoradionecrosis 'osteoradionecrosis' SubClassOf 'bone disease' 'osteoradionecrosis' SubClassOf 'bone disease' http://www.orpha.net/ORDO/Orphanet_254837 Unspecified mitochondrial disorder 'Unspecified mitochondrial disorder' SubClassOf 'Mitochondrial disease' 'Unspecified mitochondrial disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004069 http://www.ebi.ac.uk/efo/EFO_1001829 Posterior Leukoencephalopathy Syndrome 'Posterior Leukoencephalopathy Syndrome' SubClassOf 'nervous system disease' 'Posterior Leukoencephalopathy Syndrome' SubClassOf 'nervous system disease' http://purl.obolibrary.org/obo/CHEBI_43355 indoxyl sulfate 'indoxyl sulfate' SubClassOf 'chemical entity' 'indoxyl sulfate' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_69737 Bosley-Salih-Alorainy syndrome 'Bosley-Salih-Alorainy syndrome' SubClassOf 'Rare syndrome with cardiac malformations' 'Bosley-Salih-Alorainy syndrome' SubClassOf 'Syndromic genetic deafness' 'Bosley-Salih-Alorainy syndrome' SubClassOf 'Rare syndrome with cardiac malformations' 'Bosley-Salih-Alorainy syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007 'Bosley-Salih-Alorainy syndrome' SubClassOf 'Athabaskan brainstem dysgenesis syndrome' http://www.ebi.ac.uk/efo/EFO_0000091 obsolete_Arbisopsis thaliana 'obsolete_Arbisopsis thaliana' SubClassOf 'obsolete class' 'obsolete_Arbisopsis thaliana' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_69735 Hypotrichosis - lymphedema - telangiectasia 'Hypotrichosis - lymphedema - telangiectasia' SubClassOf 'Syndromic lymphedema' 'Hypotrichosis - lymphedema - telangiectasia' SubClassOf 'Milroy disease' 'Hypotrichosis - lymphedema - telangiectasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018722 'Hypotrichosis - lymphedema - telangiectasia' SubClassOf 'Syndromic lymphedema' http://www.ebi.ac.uk/efo/EFO_0000093 obsolete_B-precursor acute lymphoblastic leukemia 'obsolete_B-precursor acute lymphoblastic leukemia' SubClassOf 'obsolete class' 'obsolete_B-precursor acute lymphoblastic leukemia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000094 B-cell acute lymphoblastic leukemia 'B-cell acute lymphoblastic leukemia' SubClassOf 'acute lymphoblastic leukemia' 'B-cell acute lymphoblastic leukemia' SubClassOf 'acute lymphoblastic leukemia' 'B-cell acute lymphoblastic leukemia' SubClassOf 'B-cell non-Hodgkins lymphoma' http://www.ebi.ac.uk/efo/EFO_0000095 chronic lymphocytic leukemia 'chronic lymphocytic leukemia' SubClassOf 'neoplasm of mature B-cells' 'chronic lymphocytic leukemia' SubClassOf 'leukemia' 'chronic lymphocytic leukemia' SubClassOf 'neoplasm of mature B-cells' 'chronic lymphocytic leukemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017594 'chronic lymphocytic leukemia' SubClassOf 'lymphoid leukemia' 'chronic lymphocytic leukemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001014 'chronic lymphocytic leukemia' SubClassOf 'has modifier' some 'chronic' http://www.ebi.ac.uk/efo/EFO_0000096 neoplasm of mature B-cells 'neoplasm of mature B-cells' SubClassOf 'lymphoid neoplasm' 'neoplasm of mature B-cells' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004095 http://purl.obolibrary.org/obo/NCBITaxon_5544 Trichoderma harzianum 'Trichoderma harzianum' SubClassOf 'Ascomycota' 'Trichoderma harzianum' SubClassOf 'Ascomycota' http://www.ebi.ac.uk/efo/EFO_0000097 obsolete_B-lymphocyte 'obsolete_B-lymphocyte' SubClassOf 'obsolete class' 'obsolete_B-lymphocyte' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000099 obsolete_BY4741 'obsolete_BY4741' SubClassOf 'obsolete class' 'obsolete_BY4741' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_314918 Mild Canavan disease 'Mild Canavan disease' SubClassOf 'Canavan disease' 'Mild Canavan disease' SubClassOf 'Canavan disease' http://purl.obolibrary.org/obo/CHEBI_6067 isotretinoin 'isotretinoin' SubClassOf 'has_role' some 'drug role' http://www.orpha.net/ORDO/Orphanet_157769 Situs ambiguus 'Situs ambiguus' SubClassOf 'Genetic cardiac anomaly' 'Situs ambiguus' SubClassOf 'Genetic cardiac anomaly' 'Situs ambiguus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018677 http://www.orpha.net/ORDO/Orphanet_43115 Hereditary myopathy with lactic acidosis due to ISCU deficiency 'Hereditary myopathy with lactic acidosis due to ISCU deficiency' SubClassOf 'Metabolic myopathy' 'Hereditary myopathy with lactic acidosis due to ISCU deficiency' SubClassOf 'Exercise intolerance with lactic acidosis' 'Hereditary myopathy with lactic acidosis due to ISCU deficiency' SubClassOf 'Metabolic myopathy' 'Hereditary myopathy with lactic acidosis due to ISCU deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Hereditary myopathy with lactic acidosis due to ISCU deficiency' SubClassOf 'Exercise intolerance with lactic acidosis' http://www.orpha.net/ORDO/Orphanet_910 Xeroderma pigmentosum 'Xeroderma pigmentosum' SubClassOf 'Genetic photodermatosis' 'Xeroderma pigmentosum' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Xeroderma pigmentosum' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Xeroderma pigmentosum' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019304 'Xeroderma pigmentosum' SubClassOf 'Genetic photodermatosis' 'Xeroderma pigmentosum' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015333 'Xeroderma pigmentosum' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Xeroderma pigmentosum' SubClassOf 'Autosomal recessive cerebellar ataxia due to a DNA repair defect' 'Xeroderma pigmentosum' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 'Xeroderma pigmentosum' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' http://purl.obolibrary.org/obo/CHEBI_68641 (-)-cotinine '(-)-cotinine' SubClassOf 'chemical entity' '(-)-cotinine' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_31112 Dermatofibrosarcoma protuberans 'Dermatofibrosarcoma protuberans' SubClassOf 'Genetic soft tissue tumor' 'Dermatofibrosarcoma protuberans' SubClassOf 'Genetic skin tumor' 'Dermatofibrosarcoma protuberans' SubClassOf 'sarcoma' 'Dermatofibrosarcoma protuberans' SubClassOf 'Skin Sarcoma' 'Dermatofibrosarcoma protuberans' SubClassOf 'Genetic soft tissue tumor' 'Dermatofibrosarcoma protuberans' SubClassOf 'Genetic skin tumor' 'Dermatofibrosarcoma protuberans' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 'Dermatofibrosarcoma protuberans' SubClassOf 'fibrosarcoma' http://purl.obolibrary.org/obo/CHEBI_55329 16-hydroxypalmitate '16-hydroxypalmitate' SubClassOf 'lipid' '16-hydroxypalmitate' SubClassOf 'lipid' http://purl.obolibrary.org/obo/CHEBI_57998 3-phosphoglycerate(3-) '3-phosphoglycerate(3-)' SubClassOf 'chemical entity' '3-phosphoglycerate(3-)' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_909 Cerebrotendinous xanthomatosis 'Cerebrotendinous xanthomatosis' SubClassOf 'Metabolic disease with cataract' 'Cerebrotendinous xanthomatosis' SubClassOf 'Rare syndromic dyslipidemia' 'Cerebrotendinous xanthomatosis' SubClassOf 'Neurometabolic disease' 'Cerebrotendinous xanthomatosis' SubClassOf 'Leukodystrophy' 'Cerebrotendinous xanthomatosis' SubClassOf 'Bile acid synthesis defect with cholestasis and malabsorption' 'Cerebrotendinous xanthomatosis' SubClassOf 'Rare hereditary metabolic disease with peripheral neuropathy' 'Cerebrotendinous xanthomatosis' SubClassOf 'Autosomal recessive metabolic cerebellar ataxia' 'Cerebrotendinous xanthomatosis' SubClassOf 'Monogenic disease with epilepsy' 'Cerebrotendinous xanthomatosis' SubClassOf 'Cerebral organic aciduria' 'Cerebrotendinous xanthomatosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 'Cerebrotendinous xanthomatosis' SubClassOf 'Neurometabolic disease' 'Cerebrotendinous xanthomatosis' SubClassOf 'Leukodystrophy' 'Cerebrotendinous xanthomatosis' SubClassOf 'Rare hereditary metabolic disease with peripheral neuropathy' 'Cerebrotendinous xanthomatosis' SubClassOf 'Autosomal recessive metabolic cerebellar ataxia' 'Cerebrotendinous xanthomatosis' SubClassOf 'Developmental anomaly of metabolic origin' 'Cerebrotendinous xanthomatosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002615 'Cerebrotendinous xanthomatosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0045016 'Cerebrotendinous xanthomatosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020143 'Cerebrotendinous xanthomatosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016397 'Cerebrotendinous xanthomatosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019296 'Cerebrotendinous xanthomatosis' SubClassOf 'Metabolic disease with cataract' 'Cerebrotendinous xanthomatosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016405 'Cerebrotendinous xanthomatosis' SubClassOf 'Rare syndromic dyslipidemia' 'Cerebrotendinous xanthomatosis' SubClassOf 'Bile acid synthesis defect with cholestasis and malabsorption' http://www.orpha.net/ORDO/Orphanet_908 Fragile X syndrome 'Fragile X syndrome' SubClassOf 'Syndrome with a symptomatic strabismus' 'Fragile X syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Fragile X syndrome' SubClassOf 'Rare disease with autism' 'Fragile X syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Fragile X syndrome' SubClassOf 'Syndromic obesity' 'Fragile X syndrome' SubClassOf 'Motor stereotypies' 'Fragile X syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015656 'Fragile X syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 'Fragile X syndrome' SubClassOf 'Monogenic disease with epilepsy' 'Fragile X syndrome' SubClassOf 'Syndrome with a symptomatic strabismus' 'Fragile X syndrome' SubClassOf 'Rare disease with autism' 'Fragile X syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Fragile X syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015652 'Fragile X syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Fragile X syndrome' SubClassOf 'Syndromic obesity' http://purl.obolibrary.org/obo/CHEBI_6078 ivermectin 'ivermectin' SubClassOf 'has_role' some 'drug role' http://www.orpha.net/ORDO/Orphanet_906 Wiskott-Aldrich syndrome 'Wiskott-Aldrich syndrome' SubClassOf 'Genetic immune deficiency with skin involvement' 'Wiskott-Aldrich syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Wiskott-Aldrich syndrome' SubClassOf 'Dense granule disease' 'Wiskott-Aldrich syndrome' SubClassOf 'Combined T and B cell immunodeficiency' 'Wiskott-Aldrich syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 'Wiskott-Aldrich syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018035 'Wiskott-Aldrich syndrome' SubClassOf 'Genetic immune deficiency with skin involvement' 'Wiskott-Aldrich syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000425 'Wiskott-Aldrich syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Wiskott-Aldrich syndrome' SubClassOf 'Dense granule disease' http://www.orpha.net/ORDO/Orphanet_905 Wilson disease 'Wilson disease' SubClassOf 'Rare disorder with dystonia and other neurologic or systemic manifestation' 'Wilson disease' SubClassOf 'Neurometabolic disease' 'Wilson disease' SubClassOf 'Metabolic disease with cataract' 'Wilson disease' SubClassOf 'Metabolic disease with corneal opacity' 'Wilson disease' SubClassOf 'Disorder of copper metabolism' 'Wilson disease' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'Wilson disease' SubClassOf 'Rare genetic tremor disorder' 'Wilson disease' SubClassOf 'Supranuclear oculomotor palsy' 'Wilson disease' SubClassOf 'Rare hereditary metabolic disease with peripheral neuropathy' 'Wilson disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020016 'Wilson disease' SubClassOf 'Rare disorder with dystonia and other neurologic or systemic manifestation' 'Wilson disease' SubClassOf 'Neurometabolic disease' 'Wilson disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016400 'Wilson disease' SubClassOf 'Metabolic disease with cataract' 'Wilson disease' SubClassOf 'Metabolic disease with corneal opacity' 'Wilson disease' SubClassOf 'Disorder of copper metabolism' 'Wilson disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004689 'Wilson disease' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'Wilson disease' SubClassOf 'Supranuclear oculomotor palsy' 'Wilson disease' SubClassOf 'Rare hereditary metabolic disease with peripheral neuropathy' http://www.orpha.net/ORDO/Orphanet_904 Williams syndrome 'Williams syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Williams syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Williams syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 7' 'Williams syndrome' SubClassOf 'Syndromic epicanthus' 'Williams syndrome' SubClassOf 'Motor stereotypies' 'Williams syndrome' SubClassOf 'Rare syndrome with cardiac malformations' 'Williams syndrome' SubClassOf 'Genetic hypertension' 'Williams syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043218 'Williams syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Williams syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 7' 'Williams syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Williams syndrome' SubClassOf 'Genetic malformation syndrome with short stature' 'Williams syndrome' SubClassOf 'Syndromic epicanthus' 'Williams syndrome' SubClassOf 'Rare syndrome with cardiac malformations' 'Williams syndrome' SubClassOf 'Genetic hypertension' 'Williams syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Williams syndrome' SubClassOf 'disease has feature' some 'Supravalvular aortic stenosis' 'Williams syndrome' SubClassOf 'Motor stereotypies' 'Williams syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020016 'Williams syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000761 http://purl.obolibrary.org/obo/CHEBI_42027 1,2-di-[(9Z,12Z)-octadecadienoyl]-sn-glycero-3-phosphocholine '1,2-di-[(9Z,12Z)-octadecadienoyl]-sn-glycero-3-phosphocholine' SubClassOf 'phospholipid' '1,2-di-[(9Z,12Z)-octadecadienoyl]-sn-glycero-3-phosphocholine' SubClassOf 'phospholipid' http://www.orpha.net/ORDO/Orphanet_903 Von Willebrand disease 'Von Willebrand disease' SubClassOf 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' 'Von Willebrand disease' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0024574 and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) 'Von Willebrand disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024574 'Von Willebrand disease' SubClassOf 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' http://www.orpha.net/ORDO/Orphanet_902 Werner syndrome 'Werner syndrome' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Werner syndrome' SubClassOf 'Hereditary poikiloderma' 'Werner syndrome' SubClassOf 'Ectodermal malformation syndrome associated with ocular features' 'Werner syndrome' SubClassOf 'Premature aging' 'Werner syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Werner syndrome' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Werner syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015333 'Werner syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Werner syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 'Werner syndrome' SubClassOf 'autosomal recessive disease' 'Werner syndrome' SubClassOf 'Hereditary poikiloderma' 'Werner syndrome' SubClassOf 'Premature aging' 'Werner syndrome' SubClassOf 'Ectodermal malformation syndrome associated with ocular features' 'Werner syndrome' SubClassOf 'Rare genetic neurological disorder' 'Werner syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' http://www.orpha.net/ORDO/Orphanet_69739 Athabaskan brainstem dysgenesis syndrome 'Athabaskan brainstem dysgenesis syndrome' SubClassOf 'Rare genetic neurological disorder' 'Athabaskan brainstem dysgenesis syndrome' SubClassOf 'Syndromic genetic deafness' 'Athabaskan brainstem dysgenesis syndrome' SubClassOf 'Syndromic genetic deafness' 'Athabaskan brainstem dysgenesis syndrome' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/CHEBI_45996 ribothymidine 'ribothymidine' SubClassOf 'chemical entity' 'ribothymidine' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_921 Abruzzo-Erickson syndrome 'Abruzzo-Erickson syndrome' SubClassOf 'Orofacial clefting syndrome' 'Abruzzo-Erickson syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Abruzzo-Erickson syndrome' SubClassOf 'Syndromic urogenital tract malformation' 'Abruzzo-Erickson syndrome' SubClassOf 'Orofacial clefting syndrome' 'Abruzzo-Erickson syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 'Abruzzo-Erickson syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Abruzzo-Erickson syndrome' SubClassOf 'Syndromic urogenital tract malformation' http://www.orpha.net/ORDO/Orphanet_920 Ablepharon macrostomia syndrome 'Ablepharon macrostomia syndrome' SubClassOf 'Orofacial clefting syndrome' 'Ablepharon macrostomia syndrome' SubClassOf 'Microblepharon - ablephara' 'Ablepharon macrostomia syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Ablepharon macrostomia syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007 'Ablepharon macrostomia syndrome' SubClassOf 'Orofacial clefting syndrome' 'Ablepharon macrostomia syndrome' SubClassOf 'Microblepharon - ablephara' 'Ablepharon macrostomia syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 'Ablepharon macrostomia syndrome' SubClassOf 'Syndromic developmental defect of the eye' http://purl.obolibrary.org/obo/HP_0001824 weight loss 'weight loss' EquivalentTo 'body weight loss' http://purl.obolibrary.org/obo/CHEBI_31355 carboplatin 'carboplatin' SubClassOf 'has_role' some 'antineoplastic agent' http://purl.obolibrary.org/obo/UBERON_0011579 venom gland 'venom gland' SubClassOf 'gland' 'venom gland' SubClassOf http://purl.obolibrary.org/obo/UBERON_0002365 'venom gland' SubClassOf 'develops_from' some 'saliva-secreting gland' http://purl.obolibrary.org/obo/CHEBI_32687 piperonylbutoxide 'piperonylbutoxide' SubClassOf 'has_role' some 'agrochemical role' http://purl.obolibrary.org/obo/CHEBI_57987 2-hydroxyadipate(2-) '2-hydroxyadipate(2-)' SubClassOf 'chemical entity' '2-hydroxyadipate(2-)' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_916 Aase-Smith syndrome 'Aase-Smith syndrome' SubClassOf 'Genetic syndrome with a Dandy-Walker malformation as major feature' 'Aase-Smith syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Aase-Smith syndrome' SubClassOf 'Orofacial clefting syndrome' 'Aase-Smith syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 'Aase-Smith syndrome' SubClassOf 'Genetic syndrome with a Dandy-Walker malformation as major feature' 'Aase-Smith syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Aase-Smith syndrome' SubClassOf 'Rare genetic neurological disorder' 'Aase-Smith syndrome' SubClassOf 'Orofacial clefting syndrome' http://purl.obolibrary.org/obo/CHEBI_17084 2-hydroxyglutaric acid '2-hydroxyglutaric acid' SubClassOf 'acid' '2-hydroxyglutaric acid' SubClassOf 'acid' http://www.orpha.net/ORDO/Orphanet_915 Aarskog-Scott syndrome 'Aarskog-Scott syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007 'Aarskog-Scott syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0009332 'Aarskog-Scott syndrome' SubClassOf 'Milroy disease' http://www.orpha.net/ORDO/Orphanet_912 Zellweger syndrome 'Zellweger syndrome' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'Zellweger syndrome' SubClassOf 'Metabolic disease with pigmentary retinitis' 'Zellweger syndrome' SubClassOf 'Unclassified primitive or secondary maculopathy' 'Zellweger syndrome' SubClassOf 'Metabolic disease with cataract' 'Zellweger syndrome' SubClassOf 'Craniofacial anomaly with cataract' 'Zellweger syndrome' SubClassOf 'Peroxisome biogenesis disorder-Zellweger syndrome spectrum' 'Zellweger syndrome' SubClassOf 'Developmental anomaly of metabolic origin' 'Zellweger syndrome' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'Zellweger syndrome' SubClassOf 'Metabolic disease with pigmentary retinitis' 'Zellweger syndrome' SubClassOf 'Unclassified primitive or secondary maculopathy' 'Zellweger syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Zellweger syndrome' SubClassOf 'Metabolic disease with cataract' 'Zellweger syndrome' SubClassOf 'Craniofacial anomaly with cataract' 'Zellweger syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016398 'Zellweger syndrome' SubClassOf 'Peroxisome biogenesis disorder-Zellweger syndrome spectrum' 'Zellweger syndrome' SubClassOf 'Monogenic disease with epilepsy' 'Zellweger syndrome' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'Zellweger syndrome' SubClassOf 'Developmental anomaly of metabolic origin' http://www.orpha.net/ORDO/Orphanet_911 Combined immunodeficiency due to ZAP70 deficiency 'Combined immunodeficiency due to ZAP70 deficiency' SubClassOf 'Combined T and B cell immunodeficiency' 'Combined immunodeficiency due to ZAP70 deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018814 http://www.orpha.net/ORDO/Orphanet_932 Achondrogenesis 'Achondrogenesis' SubClassOf 'Spondylodysplastic dysplasia' 'Achondrogenesis' SubClassOf 'Spondylodysplastic dysplasia' 'Achondrogenesis' SubClassOf 'osteochondrodysplasia' http://www.orpha.net/ORDO/Orphanet_931 Acheiropodia 'Acheiropodia' SubClassOf 'Terminal limb defects' 'Acheiropodia' SubClassOf 'osteochondrodysplasia' 'Acheiropodia' SubClassOf 'Terminal limb defects' 'Acheiropodia' SubClassOf 'osteochondrodysplasia' http://www.orpha.net/ORDO/Orphanet_69723 Tyrosinemia type 3 'Tyrosinemia type 3' SubClassOf 'Disorder of tyrosine metabolism' 'Tyrosinemia type 3' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004741 http://purl.obolibrary.org/obo/HP_0000505 Visual impairment 'Visual impairment' SubClassOf 'Abnormality of the eye' 'Visual impairment' SubClassOf 'Abnormality of the eye' http://www.orpha.net/ORDO/Orphanet_399839 Rare female infertility due to a congenital hypogonadotropic hypogonadism 'Rare female infertility due to a congenital hypogonadotropic hypogonadism' SubClassOf 'Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin' 'Rare female infertility due to a congenital hypogonadotropic hypogonadism' SubClassOf 'Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin' http://purl.obolibrary.org/obo/NCBITaxon_5518 Fusarium graminearum 'Fusarium graminearum' SubClassOf 'Fusarium' 'Fusarium graminearum' SubClassOf 'Fusarium' http://www.orpha.net/ORDO/Orphanet_314911 Severe Canavan disease 'Severe Canavan disease' SubClassOf 'Canavan disease' 'Severe Canavan disease' SubClassOf 'Canavan disease' http://www.orpha.net/ORDO/Orphanet_399846 Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism 'Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism' SubClassOf 'Rare female infertility due to a congenital hypogonadotropic hypogonadism' 'Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism' SubClassOf 'disease has feature' some 'Rare female infertility due to a congenital hypogonadotropic hypogonadism' 'Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism' SubClassOf 'Rare female infertility due to a congenital hypogonadotropic hypogonadism' http://purl.obolibrary.org/obo/CHEBI_30031 succinate(2-) 'succinate(2-)' SubClassOf 'chemical entity' 'succinate(2-)' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_929 Achalasia - microcephaly 'Achalasia - microcephaly' SubClassOf 'Genetic syndromic esophageal malformation' 'Achalasia - microcephaly' SubClassOf 'Genetic syndromic esophageal malformation' 'Achalasia - microcephaly' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/CHEBI_68616 N-cinnamoylglycine 'N-cinnamoylglycine' SubClassOf 'chemical entity' 'N-cinnamoylglycine' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_927 Hyperammonemia due to N-acetylglutamate synthetase deficiency 'Hyperammonemia due to N-acetylglutamate synthetase deficiency' SubClassOf 'Disorder of urea cycle metabolism and ammonia detoxification' 'Hyperammonemia due to N-acetylglutamate synthetase deficiency' SubClassOf 'Disorder of urea cycle metabolism and ammonia detoxification' http://www.orpha.net/ORDO/Orphanet_943 Malonic aciduria 'Malonic aciduria' SubClassOf 'Metabolic disease due to other fatty acid oxidation disorder' 'Malonic aciduria' SubClassOf 'Metabolic disease due to other fatty acid oxidation disorder' http://www.orpha.net/ORDO/Orphanet_941 D-glyceric aciduria 'D-glyceric aciduria' SubClassOf 'Disorder of glyoxylate metabolism' 'D-glyceric aciduria' SubClassOf 'Disorder of glyoxylate metabolism' http://purl.obolibrary.org/obo/CHEBI_17026 progesterone 'progesterone' SubClassOf 'has_role' some 'hormone role' http://www.orpha.net/ORDO/Orphanet_157719 Juvenile or adult CACH syndrome 'Juvenile or adult CACH syndrome' SubClassOf 'CACH syndrome' 'Juvenile or adult CACH syndrome' SubClassOf 'CACH syndrome' http://www.orpha.net/ORDO/Orphanet_157716 Late infantile CACH syndrome 'Late infantile CACH syndrome' SubClassOf 'CACH syndrome' 'Late infantile CACH syndrome' SubClassOf 'CACH syndrome' http://www.orpha.net/ORDO/Orphanet_1866 Focal, segmental or multifocal dystonia 'Focal, segmental or multifocal dystonia' SubClassOf 'Isolated dystonia' 'Focal, segmental or multifocal dystonia' SubClassOf 'Isolated dystonia' http://www.orpha.net/ORDO/Orphanet_1867 Bullous dystrophy, macular type 'Bullous dystrophy, macular type' SubClassOf 'X-linked syndromic intellectual disability' 'Bullous dystrophy, macular type' SubClassOf 'Other genetic epidermal disease' 'Bullous dystrophy, macular type' SubClassOf 'X-linked syndromic intellectual disability' 'Bullous dystrophy, macular type' SubClassOf 'Other genetic epidermal disease' 'Bullous dystrophy, macular type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 'Bullous dystrophy, macular type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019274 http://www.orpha.net/ORDO/Orphanet_1864 Congenital valvular dysplasia 'Congenital valvular dysplasia' SubClassOf 'Genetic cardiac anomaly' 'Congenital valvular dysplasia' SubClassOf 'Genetic cardiac anomaly' 'Congenital valvular dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020289 http://www.orpha.net/ORDO/Orphanet_1865 Dyssegmental dysplasia, Silverman-Handmaker type 'Dyssegmental dysplasia, Silverman-Handmaker type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Dyssegmental dysplasia, Silverman-Handmaker type' SubClassOf 'Perlecan-related bone disorder' 'Dyssegmental dysplasia, Silverman-Handmaker type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Dyssegmental dysplasia, Silverman-Handmaker type' SubClassOf 'osteochondrodysplasia' 'Dyssegmental dysplasia, Silverman-Handmaker type' SubClassOf 'Perlecan-related bone disorder' http://www.orpha.net/ORDO/Orphanet_1860 Thanatophoric dysplasia type 1 'Thanatophoric dysplasia type 1' SubClassOf 'Thanatophoric dysplasia' 'Thanatophoric dysplasia type 1' SubClassOf 'Severe achondroplasia - developmental delay - acanthosis nigricans' 'Thanatophoric dysplasia type 1' SubClassOf 'Thanatophoric dysplasia' http://www.orpha.net/ORDO/Orphanet_79107 Developmental malformations - deafness - dystonia 'Developmental malformations - deafness - dystonia' SubClassOf 'Syndromic genetic deafness' 'Developmental malformations - deafness - dystonia' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Developmental malformations - deafness - dystonia' SubClassOf 'Rare disorder with dystonia and other neurologic or systemic manifestation' 'Developmental malformations - deafness - dystonia' SubClassOf 'Syndromic genetic deafness' 'Developmental malformations - deafness - dystonia' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Developmental malformations - deafness - dystonia' SubClassOf 'Rare disorder with dystonia and other neurologic or systemic manifestation' http://www.orpha.net/ORDO/Orphanet_79106 Eiken syndrome 'Eiken syndrome' SubClassOf 'Primary bone dysplasia with defective bone mineralization' 'Eiken syndrome' SubClassOf 'Multiple epiphyseal dysplasia and pseudoachondroplasia' 'Eiken syndrome' SubClassOf 'Primary bone dysplasia with defective bone mineralization' 'Eiken syndrome' SubClassOf 'Multiple epiphyseal dysplasia and pseudoachondroplasia' http://www.orpha.net/ORDO/Orphanet_79102 Thyrotoxic periodic paralysis 'Thyrotoxic periodic paralysis' SubClassOf 'muscular disease' 'Thyrotoxic periodic paralysis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016122 'Thyrotoxic periodic paralysis' SubClassOf 'has_disease_location' some 'skeletal muscle organ' 'Thyrotoxic periodic paralysis' SubClassOf 'skeletal system disease' 'Thyrotoxic periodic paralysis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000995 http://www.orpha.net/ORDO/Orphanet_1858 Skeletal dysplasia - epilepsy - short stature 'Skeletal dysplasia - epilepsy - short stature' SubClassOf 'Syndrome with brachydactyly' 'Skeletal dysplasia - epilepsy - short stature' SubClassOf 'Syndrome with brachydactyly' 'Skeletal dysplasia - epilepsy - short stature' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Skeletal dysplasia - epilepsy - short stature' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 http://www.orpha.net/ORDO/Orphanet_939 3-hydroxyisobutyric aciduria '3-hydroxyisobutyric aciduria' SubClassOf 'Classic organic aciduria' '3-hydroxyisobutyric aciduria' SubClassOf 'Classic organic aciduria' '3-hydroxyisobutyric aciduria' SubClassOf http://purl.obolibrary.org/obo/MONDO_0037870 '3-hydroxyisobutyric aciduria' SubClassOf 'Disorder of branched-chain amino acid metabolism' http://www.orpha.net/ORDO/Orphanet_79101 Hyperprolinemia type 2 'Hyperprolinemia type 2' SubClassOf 'Disorder of proline metabolism' 'Hyperprolinemia type 2' SubClassOf 'Neurometabolic disease' 'Hyperprolinemia type 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016399 'Hyperprolinemia type 2' SubClassOf 'Cerebral organic aciduria' 'Hyperprolinemia type 2' SubClassOf 'Neurometabolic disease' 'Hyperprolinemia type 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023419 http://www.orpha.net/ORDO/Orphanet_79100 Atrophoderma vermiculata 'Atrophoderma vermiculata' SubClassOf 'Keratosis pilaris atrophicans' 'Atrophoderma vermiculata' SubClassOf 'Keratosis pilaris atrophicans' http://www.orpha.net/ORDO/Orphanet_935 Short-limb skeletal dysplasia with severe combined immunodeficiency 'Short-limb skeletal dysplasia with severe combined immunodeficiency' SubClassOf 'T-B- severe combined immunodeficiency' 'Short-limb skeletal dysplasia with severe combined immunodeficiency' SubClassOf 'T-B- severe combined immunodeficiency' http://www.orpha.net/ORDO/Orphanet_952 Acrofacial dysostosis, Weyers type 'Acrofacial dysostosis, Weyers type' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Acrofacial dysostosis, Weyers type' SubClassOf 'Acrofacial dysostosis' 'Acrofacial dysostosis, Weyers type' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Acrofacial dysostosis, Weyers type' SubClassOf 'Ectodermal dysplasia syndrome' 'Acrofacial dysostosis, Weyers type' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Acrofacial dysostosis, Weyers type' SubClassOf 'Acrofacial dysostosis' 'Acrofacial dysostosis, Weyers type' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Acrofacial dysostosis, Weyers type' SubClassOf 'Ectodermal dysplasia syndrome' http://www.orpha.net/ORDO/Orphanet_31150 Tangier disease 'Tangier disease' SubClassOf 'Rare hereditary systemic disease with peripheral neuropathy' 'Tangier disease' SubClassOf 'Rare hereditary metabolic disease with peripheral neuropathy' 'Tangier disease' SubClassOf 'Neurometabolic disease' 'Tangier disease' SubClassOf 'Hypoalphalipoproteinemia' 'Tangier disease' SubClassOf 'Rare hereditary systemic disease with peripheral neuropathy' 'Tangier disease' SubClassOf 'Rare hereditary metabolic disease with peripheral neuropathy' 'Tangier disease' SubClassOf 'Neurometabolic disease' 'Tangier disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001822 'Tangier disease' SubClassOf 'Hypoalphalipoproteinemia' http://www.orpha.net/ORDO/Orphanet_950 Acrodysostosis 'Acrodysostosis' SubClassOf 'Mandibulofacial dysostosis' 'Acrodysostosis' SubClassOf 'Acromelic dysplasia' 'Acrodysostosis' SubClassOf 'Mandibulofacial dysostosis' 'Acrodysostosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018234 'Acrodysostosis' SubClassOf 'Acromelic dysplasia' http://purl.obolibrary.org/obo/CHEBI_45980 tacrine 'tacrine' SubClassOf 'has_role' some 'cholinesterase inhibitor' 'tacrine' SubClassOf 'has_role' some 'drug role' http://www.orpha.net/ORDO/Orphanet_31154 Hypobetalipoproteinemia 'Hypobetalipoproteinemia' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Hypobetalipoproteinemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001822 http://www.orpha.net/ORDO/Orphanet_1877 Muscular dystrophy - white matter spongiosis 'Muscular dystrophy - white matter spongiosis' SubClassOf 'Genetic skeletal muscle disease' 'Muscular dystrophy - white matter spongiosis' SubClassOf 'Genetic skeletal muscle disease' http://purl.obolibrary.org/obo/CLO_0031198 GM14382 'GM14382' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM14382' SubClassOf 'has_quality' some 'female' 'GM14382' SubClassOf 'cultured cell' http://www.orpha.net/ORDO/Orphanet_1878 Autosomal recessive limb-girdle muscular dystrophy type 2H 'Autosomal recessive limb-girdle muscular dystrophy type 2H' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' 'Autosomal recessive limb-girdle muscular dystrophy type 2H' SubClassOf 'Qualitative or quantitative defects of TRIM32' 'Autosomal recessive limb-girdle muscular dystrophy type 2H' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' 'Autosomal recessive limb-girdle muscular dystrophy type 2H' SubClassOf 'Qualitative or quantitative defects of TRIM32' http://www.orpha.net/ORDO/Orphanet_31153 Hypoalphalipoproteinemia 'Hypoalphalipoproteinemia' SubClassOf 'metabolic disease' 'Hypoalphalipoproteinemia' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://www.orpha.net/ORDO/Orphanet_1875 Congenital muscular dystrophy - infantile cataract - hypogonadism 'Congenital muscular dystrophy - infantile cataract - hypogonadism' SubClassOf 'Congenital muscular dystrophy' 'Congenital muscular dystrophy - infantile cataract - hypogonadism' SubClassOf 'Congenital muscular dystrophy' http://www.orpha.net/ORDO/Orphanet_1876 Oculogastrointestinal muscular dystrophy 'Oculogastrointestinal muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021189 'Oculogastrointestinal muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020169 http://www.orpha.net/ORDO/Orphanet_1873 Jalili syndrome 'Jalili syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Jalili syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' http://www.orpha.net/ORDO/Orphanet_1871 Progressive cone dystrophy 'Progressive cone dystrophy' SubClassOf 'Genetic macular dystrophy' 'Progressive cone dystrophy' SubClassOf 'Genetic macular dystrophy' http://www.orpha.net/ORDO/Orphanet_1872 Cone rod dystrophy 'Cone rod dystrophy' SubClassOf 'Unclassified primitive or secondary maculopathy' 'Cone rod dystrophy' SubClassOf 'Unclassified primitive or secondary maculopathy' http://purl.obolibrary.org/obo/CHEBI_29022 N-benzyladenine 'N-benzyladenine' SubClassOf 'has_role' some 'hormone role' 'N-benzyladenine' SubClassOf 'has_role' some 'xenobiotic' http://purl.obolibrary.org/obo/NCBITaxon_431317 Triticum mosaic virus 'Triticum mosaic virus' SubClassOf 'Virus' 'Triticum mosaic virus' SubClassOf 'Virus' http://www.orpha.net/ORDO/Orphanet_157713 Congenital or early infantile CACH syndrome 'Congenital or early infantile CACH syndrome' SubClassOf 'CACH syndrome' 'Congenital or early infantile CACH syndrome' SubClassOf 'CACH syndrome' http://www.orpha.net/ORDO/Orphanet_949 Acrocraniofacial dysostosis 'Acrocraniofacial dysostosis' SubClassOf 'Acrofacial dysostosis' 'Acrocraniofacial dysostosis' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Acrocraniofacial dysostosis' SubClassOf 'Acrofacial dysostosis' 'Acrocraniofacial dysostosis' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_946 Acrocephalosyndactyly 'Acrocephalosyndactyly' SubClassOf 'Syndromic craniosynostosis' 'Acrocephalosyndactyly' SubClassOf 'Syndrome with synostosis or other joint formation defect' 'Acrocephalosyndactyly' SubClassOf 'Syndromic craniosynostosis' 'Acrocephalosyndactyly' SubClassOf 'Syndrome with synostosis or other joint formation defect' http://www.orpha.net/ORDO/Orphanet_965 Acromegaloid facial appearance syndrome 'Acromegaloid facial appearance syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007 http://purl.obolibrary.org/obo/CHEBI_45951 trifluoperazine 'trifluoperazine' SubClassOf ('has_role' some 'phenothiazine antipsychotic drug') or ('has_role' some 'dopaminergic antagonist') http://purl.obolibrary.org/obo/CHEBI_32635 paracetamol sulfate 'paracetamol sulfate' SubClassOf 'chemical entity' 'paracetamol sulfate' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_1884 Ectopia lentis - chorioretinal dystrophy - myopia 'Ectopia lentis - chorioretinal dystrophy - myopia' SubClassOf 'Lens position anomaly' 'Ectopia lentis - chorioretinal dystrophy - myopia' SubClassOf 'Retinal dystrophy' 'Ectopia lentis - chorioretinal dystrophy - myopia' SubClassOf 'Lens position anomaly' 'Ectopia lentis - chorioretinal dystrophy - myopia' SubClassOf 'Retinal dystrophy' http://www.orpha.net/ORDO/Orphanet_1885 Isolated ectopia lentis 'Isolated ectopia lentis' SubClassOf 'Lens position anomaly' 'Isolated ectopia lentis' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021128 'Isolated ectopia lentis' SubClassOf 'Rare genetic neurological disorder' 'Isolated ectopia lentis' EquivalentTo 'Lens position anomaly' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021128) 'Isolated ectopia lentis' SubClassOf 'Lens position anomaly' http://www.orpha.net/ORDO/Orphanet_1882 Hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia 'Hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia' SubClassOf 'Ectodermal dysplasia syndrome' 'Hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia' SubClassOf 'Syndromic hypothyroidism' 'Hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia' SubClassOf 'Ectodermal dysplasia syndrome' 'Hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia' SubClassOf 'Syndromic hypothyroidism' http://purl.obolibrary.org/obo/CLO_0031189 GM14381 'GM14381' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM14381' SubClassOf 'has_quality' some 'female' 'GM14381' SubClassOf 'cultured cell' http://www.orpha.net/ORDO/Orphanet_1883 Ectodermal dysplasia - sensorineural deafness 'Ectodermal dysplasia - sensorineural deafness' SubClassOf 'Ectodermal dysplasia syndrome' 'Ectodermal dysplasia - sensorineural deafness' SubClassOf 'Syndromic genetic deafness' 'Ectodermal dysplasia - sensorineural deafness' SubClassOf 'Ectodermal dysplasia syndrome' 'Ectodermal dysplasia - sensorineural deafness' SubClassOf 'Syndromic genetic deafness' http://purl.obolibrary.org/obo/CHEBI_32643 5-acetamido-6-formamido-3-methyluracil '5-acetamido-6-formamido-3-methyluracil' SubClassOf 'chemical entity' '5-acetamido-6-formamido-3-methyluracil' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_1879 Melorheostosis with osteopoikilosis 'Melorheostosis with osteopoikilosis' SubClassOf 'Osteopetrosis' 'Melorheostosis with osteopoikilosis' SubClassOf 'Buschke-Ollendorff syndrome' http://www.orpha.net/ORDO/Orphanet_399877 Female infertility due to gonadal dysgenesis 'Female infertility due to gonadal dysgenesis' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Female infertility due to gonadal dysgenesis' SubClassOf 'female infertility' http://purl.obolibrary.org/obo/CHEBI_44616 afimoxifene 'afimoxifene' SubClassOf 'has_role' some 'antineoplastic agent' http://www.orpha.net/ORDO/Orphanet_959 Acro-renal-ocular syndrome 'Acro-renal-ocular syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Acro-renal-ocular syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Acro-renal-ocular syndrome' SubClassOf 'Okihiro syndrome' http://www.orpha.net/ORDO/Orphanet_958 Acro-renal-mandibular syndrome 'Acro-renal-mandibular syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Acro-renal-mandibular syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_957 Acropectorovertebral dysplasia 'Acropectorovertebral dysplasia' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Acropectorovertebral dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015929 'Acropectorovertebral dysplasia' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' http://www.orpha.net/ORDO/Orphanet_956 Acro-pectoro-renal dysplasia 'Acro-pectoro-renal dysplasia' SubClassOf 'Syndromic renal or urinary tract malformation' 'Acro-pectoro-renal dysplasia' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Acro-pectoro-renal dysplasia' SubClassOf 'Syndromic renal or urinary tract malformation' 'Acro-pectoro-renal dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015856 'Acro-pectoro-renal dysplasia' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' http://www.orpha.net/ORDO/Orphanet_955 Acroosteolysis dominant type 'Acroosteolysis dominant type' SubClassOf 'Primary osteolysis' 'Acroosteolysis dominant type' SubClassOf 'Syndromic renal or urinary tract malformation' 'Acroosteolysis dominant type' SubClassOf 'rheumatic disease' 'Acroosteolysis dominant type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 'Acroosteolysis dominant type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0007056 'Acroosteolysis dominant type' SubClassOf 'Syndromic renal or urinary tract malformation' 'Acroosteolysis dominant type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 http://www.orpha.net/ORDO/Orphanet_1891 Intellectual disability - spasticity - ectrodactyly 'Intellectual disability - spasticity - ectrodactyly' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Intellectual disability - spasticity - ectrodactyly' SubClassOf 'Genetic syndrome with limb reduction defects' 'Intellectual disability - spasticity - ectrodactyly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Intellectual disability - spasticity - ectrodactyly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 http://www.orpha.net/ORDO/Orphanet_976 Adenine phosphoribosyltransferase deficiency 'Adenine phosphoribosyltransferase deficiency' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'Adenine phosphoribosyltransferase deficiency' SubClassOf 'Disorder of purine metabolism' 'Adenine phosphoribosyltransferase deficiency' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'Adenine phosphoribosyltransferase deficiency' SubClassOf 'Disorder of purine metabolism' 'Adenine phosphoribosyltransferase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004736 http://www.orpha.net/ORDO/Orphanet_1892 Ectrodactyly - polydactyly 'Ectrodactyly - polydactyly' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Ectrodactyly - polydactyly' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' http://www.orpha.net/ORDO/Orphanet_974 Adams-Oliver syndrome 'Adams-Oliver syndrome' SubClassOf 'Genetic syndrome with limb reduction defects' 'Adams-Oliver syndrome' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' 'Adams-Oliver syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 'Adams-Oliver syndrome' SubClassOf 'Genetic syndrome with limb reduction defects' 'Adams-Oliver syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019294 http://www.orpha.net/ORDO/Orphanet_973 Congenital absence/hypoplasia of fingers excluding thumb, unilateral 'Congenital absence/hypoplasia of fingers excluding thumb, unilateral' SubClassOf 'Congenital absence/hypoplasia of fingers excluding thumb' 'Congenital absence/hypoplasia of fingers excluding thumb, unilateral' SubClassOf 'Congenital absence/hypoplasia of fingers excluding thumb' http://www.orpha.net/ORDO/Orphanet_972 Hereditary continuous muscle fiber activity 'Hereditary continuous muscle fiber activity' SubClassOf 'Non-dystrophic myopathy' 'Hereditary continuous muscle fiber activity' SubClassOf 'Non-dystrophic myopathy' http://www.orpha.net/ORDO/Orphanet_971 Acrorenal syndrome 'Acrorenal syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Acrorenal syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Acrorenal syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Acrorenal syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_57782 Mazabraud syndrome 'Mazabraud syndrome' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'Mazabraud syndrome' SubClassOf 'Soft Tissue Neoplasm' 'Mazabraud syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 'Mazabraud syndrome' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'Mazabraud syndrome' SubClassOf 'bone neoplasm' 'Mazabraud syndrome' SubClassOf 'Genetic soft tissue tumor' http://www.orpha.net/ORDO/Orphanet_970 Hereditary sensory and autonomic neuropathy type 2 'Hereditary sensory and autonomic neuropathy type 2' SubClassOf 'Autosomal recessive hereditary sensory and autonomic neuropathy' 'Hereditary sensory and autonomic neuropathy type 2' SubClassOf 'Channelopathy-associated congenital insensitivity to pain' http://purl.obolibrary.org/obo/CHEBI_17033 biliverdin 'biliverdin' SubClassOf 'chemical entity' 'biliverdin' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_1899 Ehlers-Danlos syndrome, arthrochalasic type 'Ehlers-Danlos syndrome, arthrochalasic type' SubClassOf 'Ehlers-Danlos syndrome' 'Ehlers-Danlos syndrome, arthrochalasic type' SubClassOf 'Ehlers-Danlos syndrome' http://www.orpha.net/ORDO/Orphanet_1897 EEM syndrome 'EEM syndrome' SubClassOf 'Genetic syndrome with limb reduction defects' 'EEM syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'EEM syndrome' SubClassOf 'Genetic macular dystrophy' 'EEM syndrome' SubClassOf 'Genetic syndrome with limb reduction defects' 'EEM syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'EEM syndrome' SubClassOf 'Genetic macular dystrophy' 'EEM syndrome' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' 'EEM syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 http://www.orpha.net/ORDO/Orphanet_1896 EEC syndrome 'EEC syndrome' SubClassOf 'EEC syndrome and related syndrome' 'EEC syndrome' SubClassOf 'Syndrome or malformation associated with head and neck malformations' 'EEC syndrome' SubClassOf 'Secondary entropion' 'EEC syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'EEC syndrome' SubClassOf 'Genetic syndrome with limb reduction defects' 'EEC syndrome' SubClassOf 'EEC syndrome and related syndrome' 'EEC syndrome' SubClassOf 'Syndrome or malformation associated with head and neck malformations' 'EEC syndrome' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' 'EEC syndrome' SubClassOf 'Secondary entropion' 'EEC syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 'EEC syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'EEC syndrome' SubClassOf 'Genetic syndrome with limb reduction defects' 'EEC syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 http://purl.obolibrary.org/obo/CHEBI_29007 ceftriaxone 'ceftriaxone' SubClassOf 'has_role' some 'antimicrobial agent' http://www.orpha.net/ORDO/Orphanet_969 Acromicric dysplasia 'Acromicric dysplasia' SubClassOf 'Acromelic dysplasia' 'Acromicric dysplasia' SubClassOf 'Acromelic dysplasia' http://www.orpha.net/ORDO/Orphanet_968 Acromesomelic dysplasia, Hunter-Thomson type 'Acromesomelic dysplasia, Hunter-Thomson type' SubClassOf 'Acromesomelic dysplasia' 'Acromesomelic dysplasia, Hunter-Thomson type' SubClassOf 'Acromesomelic dysplasia' http://www.orpha.net/ORDO/Orphanet_966 Hypertrichosis-acromegaloid facial appearance syndrome 'Hypertrichosis-acromegaloid facial appearance syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Hypertrichosis-acromegaloid facial appearance syndrome' SubClassOf 'Hypertrichosis' 'Hypertrichosis-acromegaloid facial appearance syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Hypertrichosis-acromegaloid facial appearance syndrome' SubClassOf 'Hypertrichosis' http://purl.obolibrary.org/obo/BTO_0002179 184A1N4 cell '184A1N4 cell' SubClassOf 'derives_from' some 'HMEpC cell' http://www.ebi.ac.uk/efo/EFO_0005262 mitral annular calcification 'mitral annular calcification' SubClassOf 'inheres in part of' some 'mitral valve' http://www.ebi.ac.uk/efo/EFO_0006594 Hs 936.T 'Hs 936.T' SubClassOf 'has_quality' some 'male' 'Hs 936.T' SubClassOf 'bearer_of' some 'melanoma' 'Hs 936.T' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('zone of skin' and ('part_of' some 'Homo sapiens')))) 'Hs 936.T' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0005263 TOV-112D 'TOV-112D' SubClassOf 'has_quality' some 'female' 'TOV-112D' SubClassOf 'bearer_of' some 'endometrioid carcinoma' 'TOV-112D' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('female gonad' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0006593 Hs 895.T 'Hs 895.T' SubClassOf 'cultured cell' 'Hs 895.T' SubClassOf 'derives_from' some ('fibroblast' and ('part_of' some ('zone of skin' and ('part_of' some 'Homo sapiens')))) 'Hs 895.T' SubClassOf 'bearer_of' some 'melanoma' 'Hs 895.T' SubClassOf 'has_quality' some 'female' http://www.ebi.ac.uk/efo/EFO_0006592 Hs 852.T 'Hs 852.T' SubClassOf 'bearer_of' some 'melanoma' 'Hs 852.T' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('zone of skin' and ('part_of' some 'Homo sapiens')))) 'Hs 852.T' SubClassOf 'cultured cell' 'Hs 852.T' SubClassOf 'has_quality' some 'male' http://www.ebi.ac.uk/efo/EFO_0006591 Hs 839.T 'Hs 839.T' SubClassOf 'has_quality' some 'female' 'Hs 839.T' SubClassOf 'derives_from' some ('fibroblast' and ('part_of' some ('zone of skin' and ('part_of' some 'Homo sapiens')))) 'Hs 839.T' SubClassOf 'cultured cell' 'Hs 839.T' SubClassOf 'bearer_of' some 'melanoma' http://www.ebi.ac.uk/efo/EFO_0005266 serum selenium measurement 'serum selenium measurement' SubClassOf 'is_about' some 'selenium' http://www.ebi.ac.uk/efo/EFO_0006598 IM95m 'IM95m' SubClassOf 'bearer_of' some 'gastric adenocarcinoma' 'IM95m' SubClassOf 'has_quality' some 'male' 'IM95m' SubClassOf 'cultured cell' 'IM95m' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('stomach' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0005267 serum copper measurement 'serum copper measurement' SubClassOf 'is_about' some 'copper' 'serum copper measurement' SubClassOf ('is_about' some 'liver disease') or ('is_about' some 'Wilson disease') http://www.ebi.ac.uk/efo/EFO_0006597 IGR-37 'IGR-37' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('zone of skin' and ('part_of' some 'Homo sapiens')))) 'IGR-37' SubClassOf 'bearer_of' some 'melanoma' 'IGR-37' SubClassOf 'has_quality' some 'male' 'IGR-37' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0005264 Ect1 'Ect1' SubClassOf 'has_quality' some 'female' 'Ect1' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('uterine cervix' and ('part_of' some 'Homo sapiens')))) 'Ect1' SubClassOf 'bearer_of' some 'endometriosis' http://www.ebi.ac.uk/efo/EFO_0006596 HuP-T3 'HuP-T3' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('pancreas' and ('part_of' some 'Homo sapiens')))) 'HuP-T3' SubClassOf 'bearer_of' some 'pancreatic carcinoma' 'HuP-T3' SubClassOf 'cultured cell' 'HuP-T3' SubClassOf 'has_quality' some 'male' http://www.ebi.ac.uk/efo/EFO_0005265 MOLT-3 'MOLT-3' SubClassOf 'has_quality' some 'male' 'MOLT-3' SubClassOf 'bearer_of' some 'acute lymphoblastic leukemia' 'MOLT-3' SubClassOf 'derives_from' some ('lymphoblast' and ('part_of' some ('blood' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0006595 Hs 940.T 'Hs 940.T' SubClassOf 'bearer_of' some 'melanoma' 'Hs 940.T' SubClassOf 'cultured cell' 'Hs 940.T' SubClassOf 'has_quality' some 'male' 'Hs 940.T' SubClassOf 'derives_from' some ('fibroblast' and ('part_of' some ('zone of skin' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0005268 serum zinc measurement 'serum zinc measurement' SubClassOf 'is_about' some 'Zinc' 'serum zinc measurement' SubClassOf (('is_about' some 'liver disease') or ('is_about' some 'kidney disease') or ('is_about' some 'Disorder of zinc metabolism')) or ('is_about' some 'Zinc deficiency') http://www.ebi.ac.uk/efo/EFO_0005269 congenital heart malformation 'congenital heart malformation' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'congenital heart malformation' SubClassOf 'has_disease_location' some 'cardiovascular system' http://www.ebi.ac.uk/efo/EFO_0006599 JHH-1 'JHH-1' SubClassOf 'has_quality' some 'male' 'JHH-1' SubClassOf 'cultured cell' 'JHH-1' SubClassOf 'bearer_of' some 'hepatocellular carcinoma' 'JHH-1' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('liver' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/BTO_0002178 HMEpC cell 'HMEpC cell' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('mammary gland' and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_0005251 hypotension 'hypotension' SubClassOf 'cardiovascular disease' 'hypotension' SubClassOf 'cardiovascular disease' http://www.ebi.ac.uk/efo/EFO_0006583 HNT-34 'HNT-34' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('blood' and ('part_of' some 'Homo sapiens')))) 'HNT-34' SubClassOf 'has_quality' some 'female' 'HNT-34' SubClassOf 'bearer_of' some 'acute myeloid leukemia' 'HNT-34' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0005252 orthostatic hypotension 'orthostatic hypotension' SubClassOf 'hypotension' 'orthostatic hypotension' SubClassOf 'hypotension' http://www.ebi.ac.uk/efo/EFO_0006582 HMY-1 'HMY-1' SubClassOf 'bearer_of' some 'melanoma' 'HMY-1' SubClassOf 'has_quality' some 'male' 'HMY-1' SubClassOf 'cultured cell' 'HMY-1' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lymph node' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0006581 HGC-27 'HGC-27' SubClassOf 'bearer_of' some 'gastric carcinoma' 'HGC-27' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('stomach' and ('part_of' some 'Homo sapiens')))) 'HGC-27' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0005250 occupation-related stress disorder 'occupation-related stress disorder' SubClassOf 'mental or behavioural disorder' 'occupation-related stress disorder' SubClassOf 'mental or behavioural disorder' http://www.ebi.ac.uk/efo/EFO_0006580 HEY 'HEY' SubClassOf 'cultured cell' 'HEY' SubClassOf 'bearer_of' some 'ovarian carcinoma' 'HEY' SubClassOf 'has_quality' some 'female' 'HEY' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('female gonad' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/CHEBI_64564 thioproline 'thioproline' SubClassOf 'amino acid' 'thioproline' SubClassOf 'amino acid' http://www.ebi.ac.uk/efo/EFO_0006587 Hs 675.T 'Hs 675.T' SubClassOf 'cultured cell' 'Hs 675.T' SubClassOf 'derives_from' some ('fibroblast' and ('part_of' some ('colon' and ('part_of' some 'Homo sapiens')))) 'Hs 675.T' SubClassOf 'has_quality' some 'male' 'Hs 675.T' SubClassOf 'bearer_of' some 'colorectal cancer' http://www.ebi.ac.uk/efo/EFO_0006586 Hs 38.T 'Hs 38.T' SubClassOf 'cultured cell' 'Hs 38.T' SubClassOf 'bearer_of' some 'ovarian teratoma' 'Hs 38.T' SubClassOf 'derives_from' some ('fibroblast' and ('part_of' some ('female gonad' and ('part_of' some 'Homo sapiens')))) 'Hs 38.T' SubClassOf 'has_quality' some 'female' http://www.ebi.ac.uk/efo/EFO_0005253 postprandial hypotension 'postprandial hypotension' SubClassOf 'hypotension' 'postprandial hypotension' SubClassOf 'hypotension' http://www.ebi.ac.uk/efo/EFO_0006585 Hs 294T 'Hs 294T' SubClassOf 'bearer_of' some 'melanoma' 'Hs 294T' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('zone of skin' and ('part_of' some 'Homo sapiens')))) 'Hs 294T' SubClassOf 'cultured cell' 'Hs 294T' SubClassOf 'has_quality' some 'male' http://www.ebi.ac.uk/efo/EFO_0005254 neurally mediated hypotension 'neurally mediated hypotension' SubClassOf 'hypotension' 'neurally mediated hypotension' SubClassOf 'hypotension' http://www.ebi.ac.uk/efo/EFO_0006584 Hs 255.T 'Hs 255.T' SubClassOf 'derives_from' some ('fibroblast' and ('part_of' some ('colon' and ('part_of' some 'Homo sapiens')))) 'Hs 255.T' SubClassOf 'cultured cell' 'Hs 255.T' SubClassOf 'bearer_of' some 'adenocarcinoma' 'Hs 255.T' SubClassOf 'has_quality' some 'female' http://www.ebi.ac.uk/efo/EFO_0006589 Hs 746T 'Hs 746T' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('stomach' and ('part_of' some 'Homo sapiens')))) 'Hs 746T' SubClassOf 'cultured cell' 'Hs 746T' SubClassOf 'has_quality' some 'male' 'Hs 746T' SubClassOf 'bearer_of' some 'gastric carcinoma' http://www.ebi.ac.uk/efo/EFO_0006588 Hs 695T 'Hs 695T' SubClassOf 'bearer_of' some 'melanoma' 'Hs 695T' SubClassOf 'has_quality' some 'male' 'Hs 695T' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('zone of skin' and ('part_of' some 'Homo sapiens')))) 'Hs 695T' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0006590 Hs 766T 'Hs 766T' SubClassOf 'cultured cell' 'Hs 766T' SubClassOf 'has_quality' some 'male' 'Hs 766T' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('pancreas' and ('part_of' some 'Homo sapiens')))) 'Hs 766T' SubClassOf 'bearer_of' some 'pancreatic carcinoma' http://www.ebi.ac.uk/efo/EFO_0005284 L-1210 'L-1210' SubClassOf 'has_quality' some 'female' 'L-1210' SubClassOf 'bearer_of' some 'lymphoid leukemia' 'L-1210' SubClassOf 'derives_from' some ('lymphoblast' and ('part_of' some ('blood' and ('part_of' some 'DBA/2J')))) http://www.ebi.ac.uk/efo/EFO_0005285 A20 'A20' SubClassOf 'bearer_of' some 'reticulum cell sarcoma' 'A20' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('blood' and ('part_of' some 'BALB/cAnN')))) http://www.ebi.ac.uk/efo/EFO_0005282 HS-5 'HS-5' SubClassOf 'derives_from' some ('fibroblast' and ('part_of' some ('stromal cell' and ('part_of' some 'Homo sapiens')))) 'HS-5' SubClassOf 'derives_from' some 'European' 'HS-5' SubClassOf 'has_quality' some 'male' 'HS-5' SubClassOf 'derives_from' some ('fibroblast' and ('part_of' some ('bone marrow' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0005283 HS-27A 'HS-27A' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('bone marrow' and ('part_of' some 'Homo sapiens')))) 'HS-27A' SubClassOf 'has_quality' some 'male' 'HS-27A' SubClassOf 'derives_from' some 'European' http://purl.obolibrary.org/obo/CHEBI_64552 2-hydroxybutyrate '2-hydroxybutyrate' SubClassOf 'lipid' '2-hydroxybutyrate' SubClassOf 'lipid' http://www.ebi.ac.uk/efo/EFO_0005287 reticulum cell sarcoma 'reticulum cell sarcoma' SubClassOf 'sarcoma' 'reticulum cell sarcoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020082 'reticulum cell sarcoma' SubClassOf 'sarcoma' 'reticulum cell sarcoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000612 http://www.ebi.ac.uk/efo/EFO_0005292 lymphoblastoid cell line 'lymphoblastoid cell line' EquivalentTo 'cultured cell' and ('derives_from' some ('lymphoblast' and ('part_of' some ('organism part' and ('part_of' some 'organism'))))) http://www.ebi.ac.uk/efo/EFO_0005278 cardiovascular disease biomarker measurement 'cardiovascular disease biomarker measurement' EquivalentTo 'measurement' and ('is_about' some 'cardiovascular disease') http://www.ebi.ac.uk/efo/EFO_0005279 temporomandibular joint disorder 'temporomandibular joint disorder' SubClassOf 'head and neck disorder' 'temporomandibular joint disorder' SubClassOf 'joint disease' 'temporomandibular joint disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0005042 http://purl.obolibrary.org/obo/BTO_0002180 184B5 cell '184B5 cell' SubClassOf 'derives_from' some 'HMEpC cell' http://purl.obolibrary.org/obo/CHEBI_87248 ethyl glucuronide 'ethyl glucuronide' SubClassOf 'chemical entity' 'ethyl glucuronide' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CLO_0021565 AG11498 'AG11498' SubClassOf 'derives_from' some ('fibroblast' and ('part_of' some ('thigh' and ('part_of' some 'Homo sapiens')))) 'AG11498' SubClassOf 'cultured cell' 'AG11498' SubClassOf 'has_quality' some 'male' http://www.ebi.ac.uk/efo/EFO_0005295 migraine with aura 'migraine with aura' SubClassOf 'migraine disorder' 'migraine with aura' SubClassOf 'migraine disorder' http://www.ebi.ac.uk/efo/EFO_0005296 migraine without aura 'migraine without aura' SubClassOf 'migraine disorder' 'migraine without aura' SubClassOf 'migraine disorder' http://purl.obolibrary.org/obo/CHEBI_15595 malate(2-) 'malate(2-)' SubClassOf 'chemical entity' 'malate(2-)' SubClassOf 'chemical entity' http://www.ebi.ac.uk/efo/EFO_0005294 chronic myelogenous leukemia cell line 'chronic myelogenous leukemia cell line' EquivalentTo 'cultured cell' and ('bearer_of' some 'chronic myelogenous leukemia') http://www.ebi.ac.uk/efo/EFO_0005297 Granulomatosis with Polyangiitis 'Granulomatosis with Polyangiitis' SubClassOf 'lung disease' 'Granulomatosis with Polyangiitis' SubClassOf 'kidney disease' 'Granulomatosis with Polyangiitis' SubClassOf 'vasculitis' 'Granulomatosis with Polyangiitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003346 'Granulomatosis with Polyangiitis' SubClassOf 'has_disease_location' some ('kidney' or ('part_of' some 'kidney')) 'Granulomatosis with Polyangiitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015657 'Granulomatosis with Polyangiitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016177 'Granulomatosis with Polyangiitis' SubClassOf 'has_disease_location' some ('zone of skin' or ('part_of' some 'zone of skin')) 'Granulomatosis with Polyangiitis' SubClassOf 'has_disease_location' some ('trachea blood vessel' or ('part_of' some 'trachea blood vessel')) 'Granulomatosis with Polyangiitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019724 'Granulomatosis with Polyangiitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015492 'Granulomatosis with Polyangiitis' SubClassOf 'has_disease_location' some ('heart' or ('part_of' some 'heart')) 'Granulomatosis with Polyangiitis' SubClassOf 'has_disease_location' some ('nasal vein' or ('part_of' some 'nasal vein')) 'Granulomatosis with Polyangiitis' SubClassOf 'immune system disease' 'Granulomatosis with Polyangiitis' SubClassOf 'has_disease_location' some ('lung blood vessel' or ('part_of' some 'lung blood vessel')) 'Granulomatosis with Polyangiitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002462 http://www.ebi.ac.uk/efo/EFO_0005298 allergic sensitization measurement 'allergic sensitization measurement' SubClassOf 'is_about' some 'allergy' http://purl.obolibrary.org/obo/CHEBI_15598 2-methylcitrate (3-) '2-methylcitrate (3-)' SubClassOf 'chemical entity' '2-methylcitrate (3-)' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_174590 Congenital hypogonadotropic hypogonadism 'Congenital hypogonadotropic hypogonadism' SubClassOf 'Non-acquired pituitary hormone deficiency' 'Congenital hypogonadotropic hypogonadism' SubClassOf 'Anomaly of puberty or/and menstrual cycle of genetic origin' 'Congenital hypogonadotropic hypogonadism' SubClassOf 'Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin' 'Congenital hypogonadotropic hypogonadism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018555 'Congenital hypogonadotropic hypogonadism' SubClassOf 'Non-acquired pituitary hormone deficiency' 'Congenital hypogonadotropic hypogonadism' SubClassOf 'female infertility' 'Congenital hypogonadotropic hypogonadism' SubClassOf 'Anomaly of puberty or/and menstrual cycle of genetic origin' 'Congenital hypogonadotropic hypogonadism' SubClassOf 'Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin' http://purl.obolibrary.org/obo/CHEBI_27570 histidine 'histidine' SubClassOf 'chemical entity' 'histidine' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_30924 Primary hypomagnesemia with secondary hypocalcemia 'Primary hypomagnesemia with secondary hypocalcemia' SubClassOf 'Familial primary hypomagnesemia with normocalcuria' 'Primary hypomagnesemia with secondary hypocalcemia' SubClassOf 'Familial primary hypomagnesemia with normocalcuria' http://www.orpha.net/ORDO/Orphanet_30925 Hereditary central diabetes insipidus 'Hereditary central diabetes insipidus' SubClassOf 'Pituitary deficiency' 'Hereditary central diabetes insipidus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004782 'Hereditary central diabetes insipidus' SubClassOf 'pituitary gland disease' 'Hereditary central diabetes insipidus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015790 http://purl.obolibrary.org/obo/CHEBI_27584 aldosterone 'aldosterone' SubClassOf 'has_role' some 'steroid hormone' http://purl.obolibrary.org/obo/CHEBI_41879 dexamethasone 'dexamethasone' SubClassOf ('has_role' some 'anti-inflammatory drug') or ('has_role' some 'immunosuppressive agent') http://purl.obolibrary.org/obo/CHEBI_16893 sphinganine-1-phosphate 'sphinganine-1-phosphate' SubClassOf 'phospholipid' 'sphinganine-1-phosphate' SubClassOf 'phospholipid' http://purl.obolibrary.org/obo/CHEBI_16899 D-mannitol 'D-mannitol' SubClassOf ('has_role' some 'compatible osmolytes role') and ('has_role' some 'osmotic diuretic') and ('has_role' some 'sweetening agent role') http://www.orpha.net/ORDO/Orphanet_353298 Roifman syndrome 'Roifman syndrome' SubClassOf 'Other immunodeficiency syndrome with predominantly antibody defects' 'Roifman syndrome' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Roifman syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Roifman syndrome' SubClassOf 'Other immunodeficiency syndrome with predominantly antibody defects' 'Roifman syndrome' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Roifman syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 'Roifman syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/CHEBI_38215 calcium channel blocker 'calcium channel blocker' SubClassOf 'inheres_in' some 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_39548 atorvastatin 'atorvastatin' SubClassOf 'has_role' some 'drug role' http://purl.obolibrary.org/obo/UBERON_0009910 posterior lateral plate mesoderm 'posterior lateral plate mesoderm' SubClassOf 'mesoderm' 'anterior lateral plate mesoderm' DisjointWith 'posterior lateral plate mesoderm' 'posterior lateral plate mesoderm' SubClassOf 'part_of' some 'mesoderm' 'posterior lateral plate mesoderm' SubClassOf 'mesoderm' 'posterior lateral plate mesoderm' SubClassOf 'develops_from' some 'mesoderm' http://purl.obolibrary.org/obo/CHEBI_27568 selenium 'selenium' SubClassOf 'has_role' some 'micronutrient' http://purl.obolibrary.org/obo/CHEBI_40521 N(alpha)-acetyl-L-arginine 'N(alpha)-acetyl-L-arginine' SubClassOf 'chemical entity' 'N(alpha)-acetyl-L-arginine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_15588 (R)-malate(2-) '(R)-malate(2-)' SubClassOf 'chemical entity' '(R)-malate(2-)' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_15589 (S)-malate(2−) '(S)-malate(2−)' SubClassOf 'chemical entity' '(S)-malate(2−)' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_28864 tobramycin 'tobramycin' SubClassOf ('has_role' some 'antimicrobial agent') and ('has_role' some 'antibacterial drug') http://purl.obolibrary.org/obo/CHEBI_28867 O-propanoylcarnitine 'O-propanoylcarnitine' SubClassOf 'chemical entity' 'O-propanoylcarnitine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CL_0002540 mesenchymal stem cell of the bone marrow 'mesenchymal stem cell of the bone marrow' SubClassOf 'part_of' some 'bone marrow' http://purl.obolibrary.org/obo/CHEBI_26216 potassium 'potassium' SubClassOf 'has_role' some 'micronutrient' http://www.orpha.net/ORDO/Orphanet_207107 Qualitative or quantitative defects of TRIM32 'Qualitative or quantitative defects of TRIM32' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' 'Qualitative or quantitative defects of TRIM32' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' http://www.orpha.net/ORDO/Orphanet_207101 Qualitative or quantitative defects of perlecan 'Qualitative or quantitative defects of perlecan' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' 'Qualitative or quantitative defects of perlecan' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' http://www.orpha.net/ORDO/Orphanet_207104 Qualitative or quantitative defects of calpain 'Qualitative or quantitative defects of calpain' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' 'Qualitative or quantitative defects of calpain' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' http://purl.obolibrary.org/obo/CL_0002553 lung fibroblast 'lung fibroblast' SubClassOf 'part_of' some 'lung' http://purl.obolibrary.org/obo/CL_0002551 fibroblast of dermis 'fibroblast of dermis' SubClassOf 'part_of' some 'dermis' http://www.orpha.net/ORDO/Orphanet_207119 Qualitative or quantitative defects of FKRP 'Qualitative or quantitative defects of FKRP' SubClassOf 'Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' 'Qualitative or quantitative defects of FKRP' SubClassOf 'Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' http://www.orpha.net/ORDO/Orphanet_208447 Bilateral generalized polymicrogyria 'Bilateral generalized polymicrogyria' SubClassOf 'Bilateral polymicrogyria' 'Bilateral generalized polymicrogyria' SubClassOf 'Bilateral polymicrogyria' 'Bilateral generalized polymicrogyria' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018764 http://www.orpha.net/ORDO/Orphanet_207113 Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan 'Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' SubClassOf 'Qualitative or quantitative defects of alpha-dystroglycan' 'Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' SubClassOf 'Disorder of protein O-glycosylation' 'Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' SubClassOf 'Qualitative or quantitative defects of alpha-dystroglycan' http://www.orpha.net/ORDO/Orphanet_208444 Bilateral frontal polymicrogyria 'Bilateral frontal polymicrogyria' SubClassOf 'Bilateral polymicrogyria' 'Bilateral frontal polymicrogyria' SubClassOf 'Bilateral polymicrogyria' http://purl.obolibrary.org/obo/CL_0002563 intestinal epithelial cell 'intestinal epithelial cell' EquivalentTo 'epithelial cell' and ('part_of' some 'intestine') 'intestinal epithelial cell' SubClassOf 'part_of' some 'intestine' 'intestinal epithelial cell' SubClassOf 'part_of' some 'intestinal epithelium' http://www.orpha.net/ORDO/Orphanet_208441 Bilateral parasagittal parieto-occipital polymicrogyria 'Bilateral parasagittal parieto-occipital polymicrogyria' SubClassOf 'Bilateral polymicrogyria' 'Bilateral parasagittal parieto-occipital polymicrogyria' SubClassOf 'Bilateral polymicrogyria' http://www.orpha.net/ORDO/Orphanet_207110 Qualitative or quantitative defects of myotubularin 'Qualitative or quantitative defects of myotubularin' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' 'Qualitative or quantitative defects of myotubularin' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' http://purl.obolibrary.org/obo/CHEBI_16870 choline alfoscerate 'choline alfoscerate' SubClassOf 'chemical entity' 'choline alfoscerate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_28821 piperine 'piperine' SubClassOf 'chemical entity' 'piperine' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_207122 Qualitative or quantitative defects of fukutin 'Qualitative or quantitative defects of fukutin' SubClassOf 'Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' 'Qualitative or quantitative defects of fukutin' SubClassOf 'Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' http://purl.obolibrary.org/obo/CHEBI_28824 phytosterol 'phytosterol' SubClassOf 'has_role' some 'vitamin' http://purl.obolibrary.org/obo/NCBITaxon_31870 Colletotrichum graminicola 'Colletotrichum graminicola' SubClassOf 'Ascomycota' 'Colletotrichum graminicola' SubClassOf 'Ascomycota' http://purl.obolibrary.org/obo/CL_0002598 bronchial smooth muscle cell 'bronchial smooth muscle cell' EquivalentTo 'smooth muscle cell' and ('part_of' some 'bronchus') 'bronchial smooth muscle cell' SubClassOf 'part_of' some 'bronchus' http://www.orpha.net/ORDO/Orphanet_137634 Overgrowth - macrocephaly - facial dysmorphism 'Overgrowth - macrocephaly - facial dysmorphism' SubClassOf 'Overgrowth syndrome' 'Overgrowth - macrocephaly - facial dysmorphism' SubClassOf 'Overgrowth syndrome' http://www.orpha.net/ORDO/Orphanet_137639 Leukoencephalopathy - ataxia - hypodontia - hypomyelination 'Leukoencephalopathy - ataxia - hypodontia - hypomyelination' SubClassOf 'Hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism' 'Leukoencephalopathy - ataxia - hypodontia - hypomyelination' SubClassOf 'Hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism' http://www.orpha.net/ORDO/Orphanet_281082 Inherited non-syndromic ichthyosis 'Inherited non-syndromic ichthyosis' SubClassOf 'Inherited ichthyosis' 'Inherited non-syndromic ichthyosis' EquivalentTo 'Inherited ichthyosis' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021128) 'Inherited non-syndromic ichthyosis' SubClassOf 'Inherited ichthyosis' 'Inherited non-syndromic ichthyosis' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021128 http://www.orpha.net/ORDO/Orphanet_281085 Inherited ichthyosis syndromic form 'Inherited ichthyosis syndromic form' SubClassOf 'Inherited ichthyosis' 'Inherited ichthyosis syndromic form' SubClassOf 'Inherited ichthyosis' 'Inherited ichthyosis syndromic form' EquivalentTo 'Inherited ichthyosis' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021127) 'Inherited ichthyosis syndromic form' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 http://www.orpha.net/ORDO/Orphanet_137631 Lung fibrosis - immunodeficiency - 46,XX gonadal dysgenesis 'Lung fibrosis - immunodeficiency - 46,XX gonadal dysgenesis' SubClassOf 'Syndrome with 46,XX disorder of sex development' 'Lung fibrosis - immunodeficiency - 46,XX gonadal dysgenesis' SubClassOf 'Syndrome with disorder of sex development of gynecological interest' 'Lung fibrosis - immunodeficiency - 46,XX gonadal dysgenesis' SubClassOf 'Syndrome with 46,XX disorder of sex development' 'Lung fibrosis - immunodeficiency - 46,XX gonadal dysgenesis' SubClassOf 'T-B+ severe combined immunodeficiency' 'Lung fibrosis - immunodeficiency - 46,XX gonadal dysgenesis' SubClassOf 'Syndrome with disorder of sex development of gynecological interest' 'Lung fibrosis - immunodeficiency - 46,XX gonadal dysgenesis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017015 http://purl.obolibrary.org/obo/CHEBI_16919 creatine 'creatine' SubClassOf 'has_role' some 'metabolite role' http://purl.obolibrary.org/obo/CHEBI_16914 salicylic acid 'salicylic acid' SubClassOf 'has_role' some 'phytohormone' http://www.orpha.net/ORDO/Orphanet_281097 Autosomal recessive congenital ichthyosis 'Autosomal recessive congenital ichthyosis' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/CHEBI_16953 N-acetyl-L-aspartate(2-) 'N-acetyl-L-aspartate(2-)' SubClassOf 'chemical entity' 'N-acetyl-L-aspartate(2-)' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_137658 Microcephaly - intellectual disability - phalangeal and neurological anomalies 'Microcephaly - intellectual disability - phalangeal and neurological anomalies' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Microcephaly - intellectual disability - phalangeal and neurological anomalies' SubClassOf 'Syndrome with microcephaly as major feature' 'Microcephaly - intellectual disability - phalangeal and neurological anomalies' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Microcephaly - intellectual disability - phalangeal and neurological anomalies' SubClassOf 'Syndrome with microcephaly as major feature' http://www.orpha.net/ORDO/Orphanet_163931 Acrodermatitis continua suppurativa of Hallopeau 'Acrodermatitis continua suppurativa of Hallopeau' SubClassOf 'Unclassified genetic skin disorder' 'Acrodermatitis continua suppurativa of Hallopeau' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019274 'Acrodermatitis continua suppurativa of Hallopeau' SubClassOf 'Unclassified genetic skin disorder' http://purl.obolibrary.org/obo/CHEBI_16947 citrate(3-) 'citrate(3-)' SubClassOf 'chemical entity' 'citrate(3-)' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_163937 X-linked intellectual disability, Najm type 'X-linked intellectual disability, Najm type' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability, Najm type' SubClassOf 'Genetic syndrome with a cerebellar malformation as major feature' 'X-linked intellectual disability, Najm type' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability, Najm type' SubClassOf 'Genetic syndrome with a cerebellar malformation as major feature' http://www.orpha.net/ORDO/Orphanet_137653 Microcephaly - digital anomalies - intellectual disability 'Microcephaly - digital anomalies - intellectual disability' SubClassOf 'Syndrome with microcephaly as major feature' 'Microcephaly - digital anomalies - intellectual disability' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Microcephaly - digital anomalies - intellectual disability' SubClassOf 'Syndrome with microcephaly as major feature' 'Microcephaly - digital anomalies - intellectual disability' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_90642 Syndromic genetic deafness 'Syndromic genetic deafness' EquivalentTo 'hearing loss' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021127) and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) 'Syndromic genetic deafness' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019755 'Syndromic genetic deafness' SubClassOf 'hearing loss' 'Syndromic genetic deafness' SubClassOf http://purl.obolibrary.org/obo/MONDO_0037940 'Syndromic genetic deafness' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Syndromic genetic deafness' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 http://www.orpha.net/ORDO/Orphanet_90641 Mitochondrial non-syndromic sensorineural deafness 'Mitochondrial non-syndromic sensorineural deafness' SubClassOf 'Postlingual non-syndromic genetic deafness' 'Mitochondrial non-syndromic sensorineural deafness' SubClassOf 'Prelingual non-syndromic genetic deafness' 'Mitochondrial non-syndromic sensorineural deafness' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' 'Mitochondrial non-syndromic sensorineural deafness' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Mitochondrial non-syndromic sensorineural deafness' SubClassOf 'Postlingual non-syndromic genetic deafness' 'Mitochondrial non-syndromic sensorineural deafness' SubClassOf 'Prelingual non-syndromic genetic deafness' 'Mitochondrial non-syndromic sensorineural deafness' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' http://www.orpha.net/ORDO/Orphanet_90647 Jervell and Lange-Nielsen syndrome 'Jervell and Lange-Nielsen syndrome' SubClassOf 'Familial long QT syndrome' 'Jervell and Lange-Nielsen syndrome' SubClassOf 'Syndromic genetic deafness' 'Jervell and Lange-Nielsen syndrome' SubClassOf 'Familial long QT syndrome' 'Jervell and Lange-Nielsen syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002441 'Jervell and Lange-Nielsen syndrome' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_90646 Deafness - hypogonadism 'Deafness - hypogonadism' SubClassOf 'Syndromic genetic deafness' 'Deafness - hypogonadism' SubClassOf 'Syndromic genetic deafness' http://purl.obolibrary.org/obo/CHEBI_15611 sarcosine 'sarcosine' SubClassOf 'amino acid' 'sarcosine' SubClassOf 'amino acid' http://purl.obolibrary.org/obo/UBERON_0010996 articular cartilage of joint 'articular cartilage of joint' SubClassOf 'skeletal system' 'articular cartilage of joint' DisjointWith http://purl.obolibrary.org/obo/UBERON_0011002 'articular cartilage of joint' SubClassOf 'skeletal system' http://www.orpha.net/ORDO/Orphanet_137667 Capillary malformation - arteriovenous malformation 'Capillary malformation - arteriovenous malformation' SubClassOf 'Genetic vascular anomaly' 'Capillary malformation - arteriovenous malformation' SubClassOf 'Genetic vascular anomaly' 'Capillary malformation - arteriovenous malformation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016231 http://www.orpha.net/ORDO/Orphanet_163927 Pustulosis palmaris et plantaris 'Pustulosis palmaris et plantaris' SubClassOf 'Unclassified genetic skin disorder' 'Pustulosis palmaris et plantaris' SubClassOf 'Unclassified genetic skin disorder' 'Pustulosis palmaris et plantaris' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019274 http://www.orpha.net/ORDO/Orphanet_364028 X-linked intellectual disability due to GRIA3 anomalies 'X-linked intellectual disability due to GRIA3 anomalies' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability due to GRIA3 anomalies' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'X-linked intellectual disability due to GRIA3 anomalies' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'X-linked intellectual disability due to GRIA3 anomalies' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability due to GRIA3 anomalies' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_391646 Feingold syndrome type 2 'Feingold syndrome type 2' SubClassOf 'Feingold syndrome' 'Feingold syndrome type 2' SubClassOf 'Feingold syndrome' http://www.ebi.ac.uk/efo/EFO_0007803 emotional symptom measurement 'emotional symptom measurement' SubClassOf 'is_about' some 'mental or behavioural disorder' http://www.ebi.ac.uk/efo/EFO_0007802 obsessive-compulsive symptom measurement 'obsessive-compulsive symptom measurement' SubClassOf 'is_about' some 'obsessive-compulsive disorder' http://www.ebi.ac.uk/efo/EFO_0007807 erythrocyte cadmium measurement 'erythrocyte cadmium measurement' SubClassOf 'is_about' some 'cadmium' http://purl.obolibrary.org/obo/NCBITaxon_1292002 Echinochloa glabrescens 'Echinochloa glabrescens' SubClassOf 'Viridiplantae' 'Echinochloa glabrescens' SubClassOf 'Viridiplantae' http://purl.obolibrary.org/obo/UBERON_0034919 juvenile stage 'juvenile stage' SubClassOf 'part_of' some 'sexually immature stage' http://purl.obolibrary.org/obo/UBERON_0009955 neurogenic placode 'neurogenic placode' SubClassOf 'primordium' 'neurogenic placode' SubClassOf http://purl.obolibrary.org/obo/UBERON_0002546 'neurogenic placode' SubClassOf 'part_of' some 'head' 'neurogenic placode' DisjointWith http://purl.obolibrary.org/obo/UBERON_0011814 'neurogenic placode' SubClassOf 'part_of' some 'ectoderm' http://www.orpha.net/ORDO/Orphanet_137605 Legius syndrome 'Legius syndrome' SubClassOf 'Malformation syndrome with hamartosis' 'Legius syndrome' SubClassOf 'Genetic hyperpigmentation of the skin' 'Legius syndrome' SubClassOf 'Noonan syndrome and Noonan-related syndrome' 'Legius syndrome' SubClassOf 'Malformation syndrome with hamartosis' 'Legius syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 'Legius syndrome' SubClassOf 'Genetic hyperpigmentation of the skin' http://www.ebi.ac.uk/efo/EFO_0007822 hair colour measurement 'hair colour measurement' SubClassOf 'is_about' some 'hair color' http://www.ebi.ac.uk/efo/EFO_0007821 hair morphology measurement 'hair morphology measurement' SubClassOf 'is_about' some 'hair morphology' http://www.orpha.net/ORDO/Orphanet_137608 Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus 'Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus' SubClassOf 'PTEN hamartoma tumor syndrome' 'Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus' SubClassOf 'Genetic skin tumor' 'Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus' SubClassOf 'Overgrowth syndrome' 'Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus' SubClassOf 'Genetic vascular anomaly' 'Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018729 'Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus' SubClassOf 'melanocytic nevus' 'Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus' SubClassOf 'PTEN hamartoma tumor syndrome' 'Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus' SubClassOf 'Genetic skin tumor' 'Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus' SubClassOf 'Overgrowth syndrome' 'Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000629 'Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016235 http://www.ebi.ac.uk/efo/EFO_0007826 aggressive behaviour measurement 'aggressive behaviour measurement' SubClassOf 'is_about' some 'aggressive behavior' http://www.orpha.net/ORDO/Orphanet_53689 Congenital chloride diarrhea 'Congenital chloride diarrhea' SubClassOf 'Congenital intestinal transport defect' 'Congenital chloride diarrhea' SubClassOf 'Congenital intestinal transport defect' 'Congenital chloride diarrhea' SubClassOf http://purl.obolibrary.org/obo/MONDO_0045032 http://www.orpha.net/ORDO/Orphanet_53698 Hyaline body myopathy 'Hyaline body myopathy' SubClassOf 'Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)' 'Hyaline body myopathy' SubClassOf 'Congenital myopathy' 'Hyaline body myopathy' SubClassOf 'Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)' 'Hyaline body myopathy' SubClassOf 'Congenital myopathy' http://www.orpha.net/ORDO/Orphanet_52368 Mohr-Tranebjaerg syndrome 'Mohr-Tranebjaerg syndrome' SubClassOf 'Genetic neurodegenerative disease' 'Mohr-Tranebjaerg syndrome' SubClassOf 'Mitochondrial disease with eye involvement' 'Mohr-Tranebjaerg syndrome' SubClassOf 'Syndromic genetic deafness' 'Mohr-Tranebjaerg syndrome' SubClassOf 'Mitochondrial protein import disorder' 'Mohr-Tranebjaerg syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Mohr-Tranebjaerg syndrome' SubClassOf 'Genetic neurodegenerative disease' 'Mohr-Tranebjaerg syndrome' SubClassOf 'Mitochondrial disease with eye involvement' 'Mohr-Tranebjaerg syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004884 'Mohr-Tranebjaerg syndrome' SubClassOf 'Syndromic genetic deafness' 'Mohr-Tranebjaerg syndrome' SubClassOf 'Mitochondrial protein import disorder' 'Mohr-Tranebjaerg syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Mohr-Tranebjaerg syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018609 http://www.orpha.net/ORDO/Orphanet_53696 Lethal arthrogryposis - anterior horn cell disease 'Lethal arthrogryposis - anterior horn cell disease' SubClassOf 'Arthrogryposis multiplex congenita' 'Lethal arthrogryposis - anterior horn cell disease' SubClassOf 'Arthrogryposis multiplex congenita' http://www.orpha.net/ORDO/Orphanet_53697 Gnathodiaphyseal dysplasia 'Gnathodiaphyseal dysplasia' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'Gnathodiaphyseal dysplasia' SubClassOf 'Primary bone dysplasia with decreased bone density' 'Gnathodiaphyseal dysplasia' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'Gnathodiaphyseal dysplasia' SubClassOf 'Primary bone dysplasia with decreased bone density' http://www.orpha.net/ORDO/Orphanet_53693 GRACILE syndrome 'GRACILE syndrome' SubClassOf 'Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes' 'GRACILE syndrome' SubClassOf 'Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes' http://www.orpha.net/ORDO/Orphanet_53690 Congenital lactase deficiency 'Congenital lactase deficiency' SubClassOf 'Disorder of carbohydrate absorption and transport' 'Congenital lactase deficiency' SubClassOf 'Congenital intestinal disease due to an enzymatic defect' 'Congenital lactase deficiency' SubClassOf 'Metabolic disease with intestinal involvement' 'Congenital lactase deficiency' SubClassOf 'Disorder of carbohydrate absorption and transport' 'Congenital lactase deficiency' SubClassOf 'Congenital intestinal disease due to an enzymatic defect' http://www.orpha.net/ORDO/Orphanet_53691 Congenital cornea plana 'Congenital cornea plana' SubClassOf 'Rare hyperopia and astigmatism' 'Congenital cornea plana' SubClassOf 'corneal disease' 'Congenital cornea plana' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000733 'Congenital cornea plana' SubClassOf 'Rare hyperopia and astigmatism' http://www.orpha.net/ORDO/Orphanet_65683 Isolated focal cortical dysplasia 'Isolated focal cortical dysplasia' SubClassOf 'Cerebral cortical dysplasia' 'Isolated focal cortical dysplasia' SubClassOf 'Cerebral cortical dysplasia' http://www.orpha.net/ORDO/Orphanet_65682 Benign recurrent intrahepatic cholestasis 'Benign recurrent intrahepatic cholestasis' SubClassOf 'Familial intrahepatic cholestasis' 'Benign recurrent intrahepatic cholestasis' SubClassOf 'Disorder of bilirubin metabolism and excretion' 'Benign recurrent intrahepatic cholestasis' SubClassOf 'Familial intrahepatic cholestasis' 'Benign recurrent intrahepatic cholestasis' SubClassOf 'Disorder of bilirubin metabolism and excretion' http://www.orpha.net/ORDO/Orphanet_364055 Severe early-childhood-onset retinal dystrophy 'Severe early-childhood-onset retinal dystrophy' SubClassOf 'Retinal dystrophy' 'Severe early-childhood-onset retinal dystrophy' SubClassOf 'Stargardt disease' http://www.ebi.ac.uk/efo/EFO_0007814 refractive error measurement 'refractive error measurement' SubClassOf 'is_about' some 'eye' http://www.orpha.net/ORDO/Orphanet_137625 Glycogen storage disease due to muscle and heart glycogen synthase deficiency 'Glycogen storage disease due to muscle and heart glycogen synthase deficiency' SubClassOf 'Glycogen storage disease with hypertrophic cardiomyopathy' 'Glycogen storage disease due to muscle and heart glycogen synthase deficiency' SubClassOf 'Glycogen storage disease due to glycogen synthase deficiency' 'Glycogen storage disease due to muscle and heart glycogen synthase deficiency' SubClassOf 'Glycogen storage disease with hypertrophic cardiomyopathy' 'Glycogen storage disease due to muscle and heart glycogen synthase deficiency' SubClassOf 'Glycogen storage disease due to glycogen synthase deficiency' 'Glycogen storage disease due to muscle and heart glycogen synthase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024573 http://www.orpha.net/ORDO/Orphanet_137622 Intractable diarrhea - choanal atresia - eye anomalies 'Intractable diarrhea - choanal atresia - eye anomalies' SubClassOf 'Genetic intractable diarrhea of infancy' 'Intractable diarrhea - choanal atresia - eye anomalies' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018562 'Intractable diarrhea - choanal atresia - eye anomalies' SubClassOf 'Genetic intractable diarrhea of infancy' 'Intractable diarrhea - choanal atresia - eye anomalies' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015503 http://www.orpha.net/ORDO/Orphanet_137628 Cardiac anomalies - heterotaxy 'Cardiac anomalies - heterotaxy' SubClassOf 'Rare syndrome with cardiac malformations' 'Cardiac anomalies - heterotaxy' SubClassOf 'Rare syndrome with cardiac malformations' http://www.orpha.net/ORDO/Orphanet_391641 Feingold syndrome type 1 'Feingold syndrome type 1' SubClassOf 'Feingold syndrome' 'Feingold syndrome type 1' SubClassOf 'Feingold syndrome' http://purl.obolibrary.org/obo/UBERON_0009970 epithelium of pancreatic duct 'epithelium of pancreatic duct' SubClassOf 'epithelium' 'epithelium of pancreatic duct' SubClassOf 'part_of' some 'pancreas' 'epithelium of pancreatic duct' SubClassOf 'develops_from' some 'ectoderm' 'epithelium of pancreatic duct' SubClassOf http://purl.obolibrary.org/obo/UBERON_0010371 'epithelium of pancreatic duct' SubClassOf http://purl.obolibrary.org/obo/UBERON_0034969 'epithelium of pancreatic duct' SubClassOf 'part_of' some 'digestive system' 'epithelium of pancreatic duct' SubClassOf 'develops_from' some 'liver primordium' 'epithelium of pancreatic duct' SubClassOf 'develops_from' some 'pancreatic bud' 'epithelium of pancreatic duct' SubClassOf 'develops_from' some 'gland' 'epithelium of pancreatic duct' SubClassOf http://purl.obolibrary.org/obo/UBERON_0013697 http://www.ebi.ac.uk/efo/EFO_0006510 Herpes Zoster 'Herpes Zoster' SubClassOf 'Varicella Zoster infection' 'Herpes Zoster' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_causes_feature some http://purl.obolibrary.org/obo/MONDO_0021677 'Herpes Zoster' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021674 'Herpes Zoster' SubClassOf 'disease has feature' some 'neuralgia' 'Herpes Zoster' SubClassOf 'Varicella Zoster infection' 'Herpes Zoster' SubClassOf http://purl.obolibrary.org/obo/RO_0004022 some 'Varicella Zoster infection' 'Herpes Zoster' SubClassOf 'vesiculobullous skin disease' 'Herpes Zoster' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024294 http://www.ebi.ac.uk/efo/EFO_0007841 facial morphology measurement 'facial morphology measurement' SubClassOf 'is_about' some 'facial morphology' http://www.orpha.net/ORDO/Orphanet_90695 Panhypopituitarism 'Panhypopituitarism' SubClassOf 'Hypogonadotropic hypogonadism associated with other endocrinopathies' 'Panhypopituitarism' SubClassOf 'Non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations' 'Panhypopituitarism' SubClassOf 'Combined pituitary hormone deficiencies, genetic forms' http://www.ebi.ac.uk/efo/EFO_0006514 Alzheimer's disease biomarker measurement 'Alzheimer's disease biomarker measurement' SubClassOf 'measurement' 'Alzheimer's disease biomarker measurement' SubClassOf 'mental or behavioural disorder biomarker' 'Alzheimer's disease biomarker measurement' EquivalentTo 'measurement' and ('is_about' some 'Alzheimer's disease') http://www.ebi.ac.uk/efo/EFO_0006513 hereditary hemochromatosis type 1 'hereditary hemochromatosis type 1' SubClassOf 'metabolic disease' 'hereditary hemochromatosis type 1' SubClassOf 'digestive system disease' 'hereditary hemochromatosis type 1' SubClassOf 'has_participant' some 'iron' 'hereditary hemochromatosis type 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002515 'hereditary hemochromatosis type 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0006507 'hereditary hemochromatosis type 1' SubClassOf 'has_disease_location' some 'hepatobiliary system' 'hereditary hemochromatosis type 1' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021137 http://www.ebi.ac.uk/efo/EFO_0006512 angiographic measurement 'angiographic measurement' SubClassOf 'is_about' some 'cardiovascular system' http://www.ebi.ac.uk/efo/EFO_0006511 Kashin-Beck disease 'Kashin-Beck disease' SubClassOf 'osteochondrodysplasia' 'Kashin-Beck disease' SubClassOf 'osteochondrodysplasia' http://www.ebi.ac.uk/efo/EFO_0006518 response to losartan 'response to losartan' SubClassOf 'is_about' some 'losartan' http://www.ebi.ac.uk/efo/EFO_0007849 functional brain measurement 'functional brain measurement' SubClassOf 'is_about' some 'brain' http://www.ebi.ac.uk/efo/EFO_0006517 interferon alpha measurement 'interferon alpha measurement' SubClassOf 'is_about' some 'interferon alpha' http://www.ebi.ac.uk/efo/EFO_0007848 apolipoprotein A-IV measurement 'apolipoprotein A-IV measurement' SubClassOf 'is_about' some 'lipoprotein' http://www.ebi.ac.uk/efo/EFO_0006516 superior frontal gyrus grey matter volume measurement 'superior frontal gyrus grey matter volume measurement' SubClassOf 'is_about' some 'brain' 'superior frontal gyrus grey matter volume measurement' SubClassOf 'is_about' some 'volume' 'superior frontal gyrus grey matter volume measurement' SubClassOf 'is_about' some 'superior temporal gyrus' http://purl.obolibrary.org/obo/CLO_0034796 AG04351 'AG04351' SubClassOf 'cultured cell' 'AG04351' SubClassOf 'has_quality' some 'male' 'AG04351' SubClassOf 'derives_from' some ('fibroblast' and ('part_of' some ('arm' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0006515 angiotensin-converting enzyme measurement 'angiotensin-converting enzyme measurement' SubClassOf 'is_about' some 'enzyme' 'angiotensin-converting enzyme measurement' SubClassOf 'is_about' some 'protein' 'angiotensin-converting enzyme measurement' SubClassOf ('is_about' some 'hepatitis') or ('is_about' some 'Hodgkins lymphoma') or ('is_about' some 'Alzheimer's disease') or ('is_about' some 'diabetes mellitus') or ('is_about' some 'liver disease') or ('is_about' some 'lung disease') or ('is_about' some 'multiple sclerosis') or ('is_about' some 'anorexia nervosa') or ('is_about' some 'nephrotic syndrome') or ('is_about' some 'hypothyroidism') http://www.orpha.net/ORDO/Orphanet_284993 Marfan and Marfan-related disorder 'Marfan and Marfan-related disorder' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'Marfan and Marfan-related disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015938 'Marfan and Marfan-related disorder' SubClassOf 'Rare genetic systemic or rheumatologic disease' http://purl.obolibrary.org/obo/CLO_0034780 AG04147 'AG04147' SubClassOf 'cultured cell' 'AG04147' SubClassOf 'has_quality' some 'male' 'AG04147' SubClassOf 'derives_from' some ('fibroblast' and ('part_of' some ('arm' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0007830 food addiction measurement 'food addiction measurement' SubClassOf 'is_about' some 'eating disorder' 'food addiction measurement' SubClassOf 'is_about' some 'eating behaviour' http://www.ebi.ac.uk/efo/EFO_0007834 liver dysplastic nodule 'liver dysplastic nodule' SubClassOf 'has_disease_location' some ('liver' or ('part_of' some 'liver')) http://www.ebi.ac.uk/efo/EFO_0007832 single cell sequencing 'single cell sequencing' SubClassOf 'has_input' some 'single cell specimen' 'single cell sequencing' EquivalentTo 'transcription profiling by high throughput sequencing' and ('has_input' some 'single cell specimen') http://www.ebi.ac.uk/efo/EFO_0006501 carotid plaque build 'carotid plaque build' SubClassOf 'is_about' some 'carotid artery' 'carotid plaque build' SubClassOf 'is_about' some 'cerebrovascular disorder' http://www.ebi.ac.uk/efo/EFO_0006500 tubular adenocarcinoma 'tubular adenocarcinoma' SubClassOf 'adenocarcinoma' 'tubular adenocarcinoma' SubClassOf 'adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0006507 nicotine glucuronidation measurement 'nicotine glucuronidation measurement' SubClassOf ('is_about' some 'nicotine') or ('is_about' some 'smoking behavior') http://www.ebi.ac.uk/efo/EFO_0006506 hepatic lipid content measurement 'hepatic lipid content measurement' SubClassOf 'is_about' some 'liver' 'hepatic lipid content measurement' SubClassOf 'is_about' some 'lipid' http://www.ebi.ac.uk/efo/EFO_0007837 anti-citrullinated protein antibody seropositivity 'anti-citrullinated protein antibody seropositivity' SubClassOf 'is_about' some 'anti-cyclic citrullinated peptide antibody measurement' http://www.ebi.ac.uk/efo/EFO_0006505 chronic bronchitis 'chronic bronchitis' SubClassOf 'bronchitis' 'chronic bronchitis' SubClassOf 'chronic obstructive pulmonary disease' 'chronic bronchitis' SubClassOf 'has modifier' some 'chronic' 'chronic bronchitis' SubClassOf 'bronchitis' 'chronic bronchitis' SubClassOf 'chronic obstructive pulmonary disease' http://www.ebi.ac.uk/efo/EFO_0007835 alcohol dependence measurement 'alcohol dependence measurement' SubClassOf 'is_about' some 'alcohol dependence' http://www.orpha.net/ORDO/Orphanet_99046 Double outlet right ventricle with non-committed subpulmonary ventricular septal defect 'Double outlet right ventricle with non-committed subpulmonary ventricular septal defect' SubClassOf 'Double outlet right ventricle' 'Double outlet right ventricle with non-committed subpulmonary ventricular septal defect' SubClassOf 'Double outlet right ventricle' http://www.orpha.net/ORDO/Orphanet_99045 Double outlet right ventricle with subpulmonary ventricular septal defect 'Double outlet right ventricle with subpulmonary ventricular septal defect' SubClassOf 'Double outlet right ventricle' 'Double outlet right ventricle with subpulmonary ventricular septal defect' SubClassOf 'Double outlet right ventricle' http://www.ebi.ac.uk/efo/EFO_0006509 Varicella Zoster infection 'Varicella Zoster infection' SubClassOf 'viral disease' 'Varicella Zoster infection' SubClassOf 'Herpesviridae infectious disease' http://www.ebi.ac.uk/efo/EFO_0006508 cotinine glucuronidation measurement 'cotinine glucuronidation measurement' SubClassOf 'is_about' some 'nicotine' http://purl.obolibrary.org/obo/UBERON_0006083 Perirhinal cortex 'Perirhinal cortex' SubClassOf 'part_of' some 'cerebral cortex' http://purl.obolibrary.org/obo/CHEBI_9467 tetrabenazine 'tetrabenazine' SubClassOf ('has_role' some 'antipsychotic drug') and ('has_role' some 'adrenergic uptake inhibitor') http://www.orpha.net/ORDO/Orphanet_99042 Congenitally uncorrected transposition of the great arteries with coarctation 'Congenitally uncorrected transposition of the great arteries with coarctation' SubClassOf 'Congenitally uncorrected transposition of the great arteries' 'Congenitally uncorrected transposition of the great arteries with coarctation' SubClassOf 'Congenitally uncorrected transposition of the great arteries' http://www.ebi.ac.uk/efo/EFO_0005200 antiphospholipid antibody measurement 'antiphospholipid antibody measurement' SubClassOf 'is_about' some ('antiphospholipid syndrome' and ('has_role' some 'biomarker')) 'antiphospholipid antibody measurement' SubClassOf 'is_about' some 'antibody' http://www.ebi.ac.uk/efo/EFO_0006532 A3/KAW 'A3/KAW' SubClassOf 'cultured cell' 'A3/KAW' SubClassOf 'derives_from' some ('lymphocyte' and ('part_of' some ('blood' and ('part_of' some 'Homo sapiens')))) 'A3/KAW' SubClassOf 'has_quality' some 'female' 'A3/KAW' SubClassOf 'bearer_of' some 'lymphoma' http://purl.obolibrary.org/obo/CLO_0021459 AG10941 'AG10941' SubClassOf 'derives_from' some ('fibroblast' and ('part_of' some ('arm' and ('part_of' some 'Homo sapiens')))) 'AG10941' SubClassOf 'has_quality' some 'male' 'AG10941' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0006531 888-mel '888-mel' SubClassOf 'cultured cell' '888-mel' SubClassOf 'bearer_of' some 'melanoma' '888-mel' SubClassOf 'has_quality' some 'female' '888-mel' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0006530 5T33MM '5T33MM' SubClassOf 'cancer cell line' '5T33MM' SubClassOf 'derives_from' some ('plasma cell' and ('part_of' some ('bone marrow' and ('part_of' some 'Mus musculus')))) '5T33MM' SubClassOf 'has_quality' some 'female' '5T33MM' SubClassOf 'bearer_of' some 'multiple myeloma' '5T33MM' SubClassOf 'lymphoma or leukaemia cell line' '5T33MM' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0007860 ADHD symptom measurement 'ADHD symptom measurement' SubClassOf 'is_about' some 'attention deficit hyperactivity disorder' http://www.ebi.ac.uk/efo/EFO_0005204 bulimia nervosa 'bulimia nervosa' SubClassOf 'eating disorder' 'bulimia nervosa' SubClassOf 'eating disorder' http://www.ebi.ac.uk/efo/EFO_0007867 response to gefitinib 'response to gefitinib' SubClassOf 'is_about' some 'gefitinib' http://dbpedia.org/resource/India India 'India' SubClassOf 'country' 'India' SubClassOf 'country' http://www.ebi.ac.uk/efo/EFO_0006535 ATRFLOX 'ATRFLOX' SubClassOf 'cancer cell line' 'ATRFLOX' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('colon' and ('part_of' some 'Homo sapiens')))) 'ATRFLOX' SubClassOf 'has_quality' some 'male' 'ATRFLOX' SubClassOf 'cultured cell' 'ATRFLOX' SubClassOf 'colorectal cancer cell line' 'ATRFLOX' SubClassOf 'bearer_of' some 'colorectal adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0007866 response to rifampicin 'response to rifampicin' SubClassOf 'is_about' some 'rifampicin' http://www.ebi.ac.uk/efo/EFO_0006534 AMO-1 'AMO-1' SubClassOf 'cancer cell line' 'AMO-1' SubClassOf 'derives_from' some ('lymphocyte' and ('part_of' some ('blood' and ('part_of' some 'Homo sapiens')))) 'AMO-1' SubClassOf 'bearer_of' some 'plasmacytoma' 'AMO-1' SubClassOf 'lymphoma or leukaemia cell line' 'AMO-1' SubClassOf 'cultured cell' 'AMO-1' SubClassOf 'has_quality' some 'female' http://www.ebi.ac.uk/efo/EFO_0007865 loneliness measurement 'loneliness measurement' SubClassOf 'is_about' some 'mental or behavioural disorder' http://www.ebi.ac.uk/efo/EFO_0005203 eating disorder 'eating disorder' SubClassOf 'nutritional disorder' http://www.ebi.ac.uk/efo/EFO_0006533 A4/Fuk 'A4/Fuk' SubClassOf 'cultured cell' 'A4/Fuk' SubClassOf 'bearer_of' some 'lymphoma' 'A4/Fuk' SubClassOf 'derives_from' some ('lymphocyte' and ('part_of' some ('blood' and ('part_of' some 'Homo sapiens')))) 'A4/Fuk' SubClassOf 'has_quality' some 'female' http://www.ebi.ac.uk/efo/EFO_0005208 glomerular filtration rate 'glomerular filtration rate' SubClassOf 'is_about' some 'kidney' 'glomerular filtration rate' SubClassOf 'is_about' some 'kidney disease' http://www.ebi.ac.uk/efo/EFO_0006539 BHY 'BHY' SubClassOf 'bearer_of' some 'oral squamous cell carcinoma' 'BHY' SubClassOf 'has_quality' some 'male' 'BHY' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('mouth' and ('part_of' some 'Homo sapiens')))) 'BHY' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0005206 oligoclonal band measurement 'oligoclonal band measurement' SubClassOf ('is_about' some 'lymphoma') or ('is_about' some 'Sjogren syndrome') or ('is_about' some 'subarachnoid hemorrhage') or ('is_about' some 'multiple myeloma') or ('is_about' some 'systemic lupus erythematosus') or ('is_about' some 'multiple sclerosis') http://www.ebi.ac.uk/efo/EFO_0006538 BFTC-909 'BFTC-909' SubClassOf 'bearer_of' some 'transitional cell carcinoma of kidney' 'BFTC-909' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('kidney' and ('part_of' some 'Homo sapiens')))) 'BFTC-909' SubClassOf 'has_quality' some 'male' 'BFTC-909' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0007869 wellbeing measurement 'wellbeing measurement' SubClassOf 'is_about' some 'mental or behavioural disorder' http://www.ebi.ac.uk/efo/EFO_0005207 congenital heart disease 'congenital heart disease' SubClassOf 'heart disease' 'congenital heart disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024239 'congenital heart disease' SubClassOf 'heart disease' http://www.ebi.ac.uk/efo/EFO_0006537 BEN 'BEN' SubClassOf 'has_quality' some 'male' 'BEN' SubClassOf 'cultured cell' 'BEN' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) 'BEN' SubClassOf 'bearer_of' some 'lung carcinoma' http://www.ebi.ac.uk/efo/EFO_0007868 response to erlotinib 'response to erlotinib' SubClassOf 'is_about' some 'erlotinib' http://purl.obolibrary.org/obo/HP_0011504 Bull's eye maculopathy 'Bull's eye maculopathy' SubClassOf 'Abnormality of the eye' 'Bull's eye maculopathy' SubClassOf 'Abnormality of the eye' http://www.ebi.ac.uk/efo/EFO_0006521 calcium intake measurement 'calcium intake measurement' SubClassOf 'is_about' some 'calcium' http://www.ebi.ac.uk/efo/EFO_0007852 thiopurine methyltransferase activity measurement 'thiopurine methyltransferase activity measurement' SubClassOf 'is_about' some 'enzyme' 'thiopurine methyltransferase activity measurement' SubClassOf 'is_about' some 'protein' http://www.ebi.ac.uk/efo/EFO_0006520 carbon monoxide exhalation measurement 'carbon monoxide exhalation measurement' SubClassOf 'is_about' some 'smoking behavior' http://www.ebi.ac.uk/efo/EFO_0006525 cigarettes per day measurement 'cigarettes per day measurement' SubClassOf 'is_about' some 'smoking behavior' http://www.ebi.ac.uk/efo/EFO_0006524 L-arginine measurement 'L-arginine measurement' SubClassOf 'is_about' some 'L-arginine' http://www.ebi.ac.uk/efo/EFO_0006523 symmetrical dimethylarginine measurement 'symmetrical dimethylarginine measurement' SubClassOf 'is_about' some 'cardiovascular disease' 'symmetrical dimethylarginine measurement' SubClassOf ('is_about' some 'stroke') or ('is_about' some 'kidney disease') 'symmetrical dimethylarginine measurement' SubClassOf 'is_about' some 'symmetric dimethylarginine' http://www.ebi.ac.uk/efo/EFO_0006522 asymmetrical dimethylarginine measurement 'asymmetrical dimethylarginine measurement' SubClassOf 'is_about' some 'cardiovascular disease' 'asymmetrical dimethylarginine measurement' SubClassOf 'is_about' some 'asymmetric dimethylarginine' http://www.ebi.ac.uk/efo/EFO_0006529 2TS22C '2TS22C' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Mus musculus')))) '2TS22C' SubClassOf 'has_quality' some 'male' '2TS22C' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0006528 23132/87 '23132/87' SubClassOf 'cultured cell' '23132/87' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('stomach' and ('part_of' some 'Homo sapiens')))) '23132/87' SubClassOf 'has_quality' some 'male' '23132/87' SubClassOf 'bearer_of' some 'gastric carcinoma' http://www.ebi.ac.uk/efo/EFO_0006527 smoking status measurement 'smoking status measurement' SubClassOf 'is_about' some 'smoking behavior' http://www.ebi.ac.uk/efo/EFO_0006526 pack-years measurement 'pack-years measurement' SubClassOf 'is_about' some 'smoking behavior' http://www.orpha.net/ORDO/Orphanet_51084 Torsade-de-pointes syndrome with short coupling interval 'Torsade-de-pointes syndrome with short coupling interval' SubClassOf 'Genetic cardiac rhythm disease' 'Torsade-de-pointes syndrome with short coupling interval' SubClassOf 'Genetic cardiac rhythm disease' http://www.orpha.net/ORDO/Orphanet_51083 Familial short QT syndrome 'Familial short QT syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000992 http://www.ebi.ac.uk/efo/EFO_0006550 CCRF-SB 'CCRF-SB' SubClassOf 'has_quality' some 'male' 'CCRF-SB' SubClassOf 'cultured cell' 'CCRF-SB' SubClassOf 'bearer_of' some 'acute lymphoblastic leukemia' 'CCRF-SB' SubClassOf 'derives_from' some ('lymphocyte' and ('part_of' some ('blood' and ('part_of' some 'Homo sapiens')))) http://www.orpha.net/ORDO/Orphanet_90654 Stickler syndrome type 2 'Stickler syndrome type 2' SubClassOf 'Stickler syndrome' 'Stickler syndrome type 2' SubClassOf 'Type 11 collagen-related bone disorder' 'Stickler syndrome type 2' SubClassOf 'Type 11 collagen-related bone disorder' 'Stickler syndrome type 2' SubClassOf 'Stickler syndrome' http://www.orpha.net/ORDO/Orphanet_90653 Stickler syndrome type 1 'Stickler syndrome type 1' SubClassOf 'Type 2 collagen-related bone disorder' 'Stickler syndrome type 1' SubClassOf 'Stickler syndrome' 'Stickler syndrome type 1' SubClassOf 'Type 2 collagen-related bone disorder' 'Stickler syndrome type 1' SubClassOf 'Stickler syndrome' 'Stickler syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0022800 http://www.ebi.ac.uk/efo/EFO_0005222 avian influenza 'avian influenza' SubClassOf 'influenza' 'avian influenza' SubClassOf 'influenza' 'avian influenza' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015118 http://www.ebi.ac.uk/efo/EFO_0006554 COLO 206F 'COLO 206F' SubClassOf 'cultured cell' 'COLO 206F' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('colon' and ('part_of' some 'Homo sapiens')))) 'COLO 206F' SubClassOf 'bearer_of' some 'adenocarcinoma' 'COLO 206F' SubClassOf 'has_quality' some 'male' http://www.orpha.net/ORDO/Orphanet_90650 Otopalatodigital syndrome type 1 'Otopalatodigital syndrome type 1' SubClassOf 'Otopalatodigital syndrome' 'Otopalatodigital syndrome type 1' SubClassOf 'Otopalatodigital syndrome' http://www.ebi.ac.uk/efo/EFO_0005223 acute stress reaction 'acute stress reaction' SubClassOf 'anxiety disorder' 'acute stress reaction' SubClassOf 'mental or behavioural disorder' 'acute stress reaction' SubClassOf 'anxiety disorder' http://www.ebi.ac.uk/efo/EFO_0006553 CMA-03/06 'CMA-03/06' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'CMA-03/06' SubClassOf 'derives_from' some 'CMA-03' 'CMA-03/06' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0005220 pulmonary neuroendocrine tumor 'pulmonary neuroendocrine tumor' SubClassOf 'neuroendocrine neoplasm' 'pulmonary neuroendocrine tumor' SubClassOf 'neuroendocrine neoplasm' 'pulmonary neuroendocrine tumor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021117 http://www.ebi.ac.uk/efo/EFO_0006552 CMA-03 'CMA-03' SubClassOf 'cancer cell line' 'CMA-03' SubClassOf 'has_quality' some 'male' 'CMA-03' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'CMA-03' SubClassOf 'cultured cell' 'CMA-03' SubClassOf 'bearer_of' some 'multiple myeloma' 'CMA-03' SubClassOf 'lymphoma or leukaemia cell line' http://www.orpha.net/ORDO/Orphanet_90652 Otopalatodigital syndrome type 2 'Otopalatodigital syndrome type 2' SubClassOf 'Otopalatodigital syndrome' 'Otopalatodigital syndrome type 2' SubClassOf 'Otopalatodigital syndrome' http://www.ebi.ac.uk/efo/EFO_0005221 cholangiocarcinoma 'cholangiocarcinoma' SubClassOf 'carcinoma' 'cholangiocarcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018536 http://www.ebi.ac.uk/efo/EFO_0006551 CFPAC-1 'CFPAC-1' SubClassOf 'cancer cell line' 'CFPAC-1' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('pancreas' and ('part_of' some 'Homo sapiens')))) 'CFPAC-1' SubClassOf 'cultured cell' 'CFPAC-1' SubClassOf 'bearer_of' some 'ductal adenocarcinoma' 'CFPAC-1' SubClassOf 'breast adenocarcinoma cell line' 'CFPAC-1' SubClassOf 'has_quality' some 'male' http://www.ebi.ac.uk/efo/EFO_0007882 microbiome measurement 'microbiome measurement' SubClassOf 'is_about' some 'microbiome' http://www.ebi.ac.uk/efo/EFO_0005226 swine influenza 'swine influenza' SubClassOf 'influenza' 'swine influenza' SubClassOf 'influenza' http://www.ebi.ac.uk/efo/EFO_0006558 COV413B 'COV413B' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('female gonad' and ('part_of' some 'Homo sapiens')))) 'COV413B' SubClassOf 'has_quality' some 'female' 'COV413B' SubClassOf 'bearer_of' some 'ovarian carcinoma' 'COV413B' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0005227 GRO-seq 'GRO-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) 'GRO-seq' SubClassOf 'has_participant' some 'sequencer' http://www.ebi.ac.uk/efo/EFO_0006557 COV413A 'COV413A' SubClassOf 'bearer_of' some 'ovarian carcinoma' 'COV413A' SubClassOf 'has_quality' some 'female' 'COV413A' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('female gonad' and ('part_of' some 'Homo sapiens')))) 'COV413A' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0005224 Q fever 'Q fever' SubClassOf 'bacterial disease' 'Q fever' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Q fever' SubClassOf 'disease has feature' some 'dysentery' 'Q fever' SubClassOf 'has_participant' some 'Coxiella burnetii' 'Q fever' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000314 http://www.ebi.ac.uk/efo/EFO_0006556 COR-L47 'COR-L47' SubClassOf 'has_quality' some 'male' 'COR-L47' SubClassOf 'bearer_of' some 'small cell lung carcinoma' 'COR-L47' SubClassOf 'cultured cell' 'COR-L47' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('bone marrow' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0005225 human african trypanosomiasis 'human african trypanosomiasis' SubClassOf 'trypanosomiasis' 'human african trypanosomiasis' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'human african trypanosomiasis' SubClassOf 'trypanosomiasis' 'human african trypanosomiasis' SubClassOf 'disease has feature' some http://purl.obolibrary.org/obo/MONDO_0002280 http://www.ebi.ac.uk/efo/EFO_0006555 COR-L26 'COR-L26' SubClassOf 'has_quality' some 'female' 'COR-L26' SubClassOf 'cultured cell' 'COR-L26' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('bone marrow' and ('part_of' some 'Homo sapiens')))) 'COR-L26' SubClassOf 'bearer_of' some 'large cell lung carcinoma' http://www.ebi.ac.uk/efo/EFO_0007886 DDT metabolite measurement 'DDT metabolite measurement' SubClassOf 'is_about' some 'organochlorine pesticides' http://www.orpha.net/ORDO/Orphanet_90658 Charcot-Marie-Tooth disease type 1E 'Charcot-Marie-Tooth disease type 1E' SubClassOf 'Syndromic genetic deafness' 'Charcot-Marie-Tooth disease type 1E' SubClassOf 'Charcot-Marie-Tooth disease type 1' 'Charcot-Marie-Tooth disease type 1E' SubClassOf 'Syndromic genetic deafness' 'Charcot-Marie-Tooth disease type 1E' SubClassOf 'Charcot-Marie-Tooth disease type 1' http://www.ebi.ac.uk/efo/EFO_0006559 CPC-N 'CPC-N' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) 'CPC-N' SubClassOf 'bearer_of' some 'small cell lung carcinoma' 'CPC-N' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0006543 BICR 78 'BICR 78' SubClassOf 'has_quality' some 'male' 'BICR 78' SubClassOf 'bearer_of' some 'squamous cell carcinoma' 'BICR 78' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('mouth' and ('part_of' some 'Homo sapiens')))) 'BICR 78' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0006542 BICR 31 'BICR 31' SubClassOf 'cultured cell' 'BICR 31' SubClassOf 'has_quality' some 'male' 'BICR 31' SubClassOf 'bearer_of' some 'squamous cell carcinoma' 'BICR 31' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('tongue' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0007873 cartilage thickness measurement 'cartilage thickness measurement' SubClassOf 'is_about' some 'cartilage' 'cartilage thickness measurement' SubClassOf 'is_about' some ('osteoarthritis' and ('has_role' some 'biomarker')) http://www.ebi.ac.uk/efo/EFO_0006541 BICR 22 'BICR 22' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('tongue' and ('part_of' some 'Homo sapiens')))) 'BICR 22' SubClassOf 'cultured cell' 'BICR 22' SubClassOf 'has_quality' some 'male' 'BICR 22' SubClassOf 'bearer_of' some 'squamous cell carcinoma' http://www.ebi.ac.uk/efo/EFO_0007872 caffeine metabolite measurement 'caffeine metabolite measurement' SubClassOf 'is_about' some 'caffeine' http://www.ebi.ac.uk/efo/EFO_0006540 BICR 10 'BICR 10' SubClassOf 'bearer_of' some 'oral squamous cell carcinoma' 'BICR 10' SubClassOf 'cultured cell' 'BICR 10' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('mouth' and ('part_of' some 'Homo sapiens')))) 'BICR 10' SubClassOf 'has_quality' some 'female' http://www.ebi.ac.uk/efo/EFO_0005215 breast adenocarcinoma cell line 'breast adenocarcinoma cell line' EquivalentTo 'cultured cell' and ('bearer_of' some 'breast adenocarcinoma') http://www.ebi.ac.uk/efo/EFO_0006547 CAL-12T 'CAL-12T' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) 'CAL-12T' SubClassOf 'bearer_of' some 'lung carcinoma' 'CAL-12T' SubClassOf 'has_quality' some 'male' 'CAL-12T' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0007878 alcohol consumption measurement 'alcohol consumption measurement' SubClassOf 'is_about' some 'alcohol drinking' http://www.ebi.ac.uk/efo/EFO_0005216 hepatoma cell line 'hepatoma cell line' EquivalentTo 'derives_from' some ('hepatocyte' and ('part_of' some ('liver' and ('part_of' some 'organism')))) 'hepatoma cell line' EquivalentTo 'cultured cell' and ('bearer_of' some 'hepatocellular carcinoma') http://www.ebi.ac.uk/efo/EFO_0006546 C2BBe1 'C2BBe1' SubClassOf 'cancer cell line' 'C2BBe1' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('colon' and ('part_of' some 'Homo sapiens')))) 'C2BBe1' SubClassOf 'cultured cell' 'C2BBe1' SubClassOf 'has_quality' some 'male' 'C2BBe1' SubClassOf 'colorectal cancer cell line' 'C2BBe1' SubClassOf 'bearer_of' some 'colorectal adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0005213 central corneal thickness 'central corneal thickness' SubClassOf 'is_about' some 'eye disease' 'central corneal thickness' SubClassOf 'is_about' some 'eye' http://www.ebi.ac.uk/efo/EFO_0006545 brain glioblastoma 'brain glioblastoma' SubClassOf 'glioblastoma multiforme' 'brain glioblastoma' SubClassOf 'glioblastoma multiforme' 'brain glioblastoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0005499 http://www.ebi.ac.uk/efo/EFO_0005214 neuroblastoma cell line 'neuroblastoma cell line' EquivalentTo 'cultured cell' and ('bearer_of' some 'neuroblastoma') http://www.ebi.ac.uk/efo/EFO_0006544 bladder transitional cell carcinoma 'bladder transitional cell carcinoma' SubClassOf 'bladder carcinoma' 'bladder transitional cell carcinoma' SubClassOf 'bladder carcinoma' 'bladder transitional cell carcinoma' SubClassOf 'urothelial carcinoma' http://www.ebi.ac.uk/efo/EFO_0005219 TraDIS sequencing 'TraDIS sequencing' SubClassOf 'has_participant' some 'high throughput sequencer' 'TraDIS sequencing' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0005217 cervical adenocarcinoma cell line 'cervical adenocarcinoma cell line' SubClassOf 'cancer cell line' 'cervical adenocarcinoma cell line' EquivalentTo 'cultured cell' and ('bearer_of' some 'cervical adenocarcinoma') 'cervical adenocarcinoma cell line' SubClassOf 'cervical carcinoma cell line' 'cervical adenocarcinoma cell line' SubClassOf 'cervical cancer cell line' http://www.ebi.ac.uk/efo/EFO_0006549 CaSki 'CaSki' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('uterine cervix' and ('part_of' some 'Homo sapiens')))) 'CaSki' SubClassOf 'cultured cell' 'CaSki' SubClassOf 'bearer_of' some 'squamous cell carcinoma' 'CaSki' SubClassOf 'has_quality' some 'female' http://www.ebi.ac.uk/efo/EFO_0005218 cervical carcinoma cell line 'cervical carcinoma cell line' EquivalentTo 'cultured cell' and ('bearer_of' some 'cervical carcinoma') http://www.ebi.ac.uk/efo/EFO_0006548 CaR-1 'CaR-1' SubClassOf 'cancer cell line' 'CaR-1' SubClassOf 'has_quality' some 'male' 'CaR-1' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lymph node' and ('part_of' some 'Homo sapiens')))) 'CaR-1' SubClassOf 'cultured cell' 'CaR-1' SubClassOf 'colorectal cancer cell line' 'CaR-1' SubClassOf 'bearer_of' some 'colorectal adenocarcinoma' http://www.orpha.net/ORDO/Orphanet_99002 Reticular dystrophy of the retinal pigment epithelium 'Reticular dystrophy of the retinal pigment epithelium' SubClassOf 'Patterned dystrophy of the retinal pigment epithelium' 'Reticular dystrophy of the retinal pigment epithelium' SubClassOf 'Patterned dystrophy of the retinal pigment epithelium' http://www.orpha.net/ORDO/Orphanet_99001 Butterfly-shaped pigment dystrophy 'Butterfly-shaped pigment dystrophy' SubClassOf 'Patterned dystrophy of the retinal pigment epithelium' 'Butterfly-shaped pigment dystrophy' SubClassOf 'macular degeneration' 'Butterfly-shaped pigment dystrophy' SubClassOf 'Patterned dystrophy of the retinal pigment epithelium' http://www.orpha.net/ORDO/Orphanet_99004 Fundus pulverulentus 'Fundus pulverulentus' SubClassOf 'Patterned dystrophy of the retinal pigment epithelium' 'Fundus pulverulentus' SubClassOf 'Patterned dystrophy of the retinal pigment epithelium' http://www.orpha.net/ORDO/Orphanet_99003 Multifocal pattern dystrophy simulating fundus flavimaculatus 'Multifocal pattern dystrophy simulating fundus flavimaculatus' SubClassOf 'Patterned dystrophy of the retinal pigment epithelium' 'Multifocal pattern dystrophy simulating fundus flavimaculatus' SubClassOf 'Patterned dystrophy of the retinal pigment epithelium' http://purl.obolibrary.org/obo/CHEBI_89836 propionylglycine 'propionylglycine' SubClassOf 'amide' 'propionylglycine' SubClassOf 'amide' http://www.orpha.net/ORDO/Orphanet_99000 Adult-onset foveomacular vitelliform dystrophy 'Adult-onset foveomacular vitelliform dystrophy' SubClassOf 'Genetic macular dystrophy' 'Adult-onset foveomacular vitelliform dystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000390 http://www.ebi.ac.uk/efo/EFO_0005240 rhegmatogenous retinal detachment 'rhegmatogenous retinal detachment' SubClassOf 'retinal detachment' 'rhegmatogenous retinal detachment' SubClassOf 'has_disease_location' some 'retina' 'rhegmatogenous retinal detachment' SubClassOf 'retinal detachment' http://www.ebi.ac.uk/efo/EFO_0006572 EJM 'EJM' SubClassOf 'cancer cell line' 'EJM' SubClassOf 'bearer_of' some 'multiple myeloma' 'EJM' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'EJM' SubClassOf 'lymphoma or leukaemia cell line' 'EJM' SubClassOf 'cultured cell' 'EJM' SubClassOf 'has_quality' some 'female' http://www.ebi.ac.uk/efo/EFO_0006571 EFO-27 'EFO-27' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('female gonad' and ('part_of' some 'Homo sapiens')))) 'EFO-27' SubClassOf 'cultured cell' 'EFO-27' SubClassOf 'bearer_of' some 'ovarian adenocarcinoma' 'EFO-27' SubClassOf 'has_quality' some 'female' http://www.ebi.ac.uk/efo/EFO_0006570 EFM-192C 'EFM-192C' SubClassOf 'has_quality' some 'female' 'EFM-192C' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('breast' and ('part_of' some 'Homo sapiens')))) 'EFM-192C' SubClassOf 'bearer_of' some 'breast carcinoma' 'EFM-192C' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0006576 GP5d 'GP5d' SubClassOf 'cultured cell' 'GP5d' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('colon' and ('part_of' some 'Homo sapiens')))) 'GP5d' SubClassOf 'has_quality' some 'female' 'GP5d' SubClassOf 'bearer_of' some 'adenocarcinoma' http://purl.obolibrary.org/obo/HP_0000818 Abnormality of the endocrine system 'Abnormality of the endocrine system' EquivalentTo 'has part' some ('quality' and ('has component' some 'abnormal') and ('inheres in part of' some 'endocrine system')) http://www.ebi.ac.uk/efo/EFO_0005245 body weight loss 'weight loss' EquivalentTo 'body weight loss' http://www.ebi.ac.uk/efo/EFO_0006575 GP2d 'GP2d' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('colon' and ('part_of' some 'Homo sapiens')))) 'GP2d' SubClassOf 'cultured cell' 'GP2d' SubClassOf 'bearer_of' some 'adenocarcinoma' 'GP2d' SubClassOf 'has_quality' some 'female' http://www.ebi.ac.uk/efo/EFO_0005242 methamphetamine-induced psychosis 'methamphetamine-induced psychosis' SubClassOf 'mental or behavioural disorder' 'methamphetamine-induced psychosis' SubClassOf 'psychosis' http://www.ebi.ac.uk/efo/EFO_0006574 EVSA-T 'EVSA-T' SubClassOf 'cultured cell' 'EVSA-T' SubClassOf 'has_quality' some 'female' 'EVSA-T' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('breast' and ('part_of' some 'Homo sapiens')))) 'EVSA-T' SubClassOf 'bearer_of' some 'breast carcinoma' http://www.orpha.net/ORDO/Orphanet_90674 Isolated thyroid-stimulating hormone deficiency 'Isolated thyroid-stimulating hormone deficiency' SubClassOf 'Central congenital hypothyroidism' 'Isolated thyroid-stimulating hormone deficiency' SubClassOf 'Non-acquired pituitary hormone deficiency' 'Isolated thyroid-stimulating hormone deficiency' SubClassOf 'Central congenital hypothyroidism' 'Isolated thyroid-stimulating hormone deficiency' SubClassOf 'Non-acquired pituitary hormone deficiency' 'Isolated thyroid-stimulating hormone deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000045 http://www.ebi.ac.uk/efo/EFO_0005243 myeloperoxidase measurement 'myeloperoxidase measurement' SubClassOf 'is_about' some 'cardiovascular disease' 'myeloperoxidase measurement' SubClassOf 'is_about' some 'enzyme' 'myeloperoxidase measurement' SubClassOf 'is_about' some 'protein' http://www.ebi.ac.uk/efo/EFO_0006573 EPLC-272H 'EPLC-272H' SubClassOf 'cultured cell' 'EPLC-272H' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) 'EPLC-272H' SubClassOf 'bearer_of' some 'adenocarcinoma' 'EPLC-272H' SubClassOf 'has_quality' some 'male' http://www.orpha.net/ORDO/Orphanet_90673 Hypothyroidism due to TSH receptor mutations 'Hypothyroidism due to TSH receptor mutations' SubClassOf 'Primary congenital hypothyroidism without thyroid developmental anomaly' 'Hypothyroidism due to TSH receptor mutations' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044977 'Hypothyroidism due to TSH receptor mutations' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000045 'Hypothyroidism due to TSH receptor mutations' SubClassOf 'Primary congenital hypothyroidism without thyroid developmental anomaly' http://www.ebi.ac.uk/efo/EFO_0006579 HEL 'HEL' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('blood' and ('part_of' some 'Homo sapiens')))) 'HEL' SubClassOf 'cultured cell' 'HEL' SubClassOf 'bearer_of' some 'acute erythroleukemia' http://www.ebi.ac.uk/efo/EFO_0005246 hypersomnia 'hypersomnia' SubClassOf 'Sleep Disorder' 'hypersomnia' SubClassOf 'Sleep Disorder' http://www.ebi.ac.uk/efo/EFO_0006578 GTL-16 'GTL-16' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'GTL-16' SubClassOf 'bearer_of' some 'gastric carcinoma' 'GTL-16' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0006577 GR-M 'GR-M' SubClassOf 'has_quality' some 'male' 'GR-M' SubClassOf 'bearer_of' some 'melanoma' 'GR-M' SubClassOf 'cultured cell' 'GR-M' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('zone of skin' and ('part_of' some 'Homo sapiens')))) http://www.orpha.net/ORDO/Orphanet_353308 Pyruvate carboxylase deficiency, infantile form 'Pyruvate carboxylase deficiency, infantile form' SubClassOf 'pyruvate carboxylase deficiency disease' http://www.orpha.net/ORDO/Orphanet_99013 Autosomal recessive spastic paraplegia type 7 'Autosomal recessive spastic paraplegia type 7' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Autosomal recessive spastic paraplegia type 7' SubClassOf 'Pure or complex autosomal recessive spastic paraplegia' 'Autosomal recessive spastic paraplegia type 7' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004884 'Autosomal recessive spastic paraplegia type 7' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Autosomal recessive spastic paraplegia type 7' SubClassOf 'hereditary ataxia' 'Autosomal recessive spastic paraplegia type 7' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018609 'Autosomal recessive spastic paraplegia type 7' SubClassOf 'Complex hereditary spastic paraplegia' 'Autosomal recessive spastic paraplegia type 7' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001835 'Autosomal recessive spastic paraplegia type 7' SubClassOf http://purl.obolibrary.org/obo/MONDO_0022687 'Autosomal recessive spastic paraplegia type 7' SubClassOf 'Pure or complex autosomal recessive spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_99015 Spastic paraplegia type 2 'Spastic paraplegia type 2' SubClassOf 'Pure or complex X-linked spastic paraplegia' 'Spastic paraplegia type 2' SubClassOf 'Leukodystrophy' 'Spastic paraplegia type 2' SubClassOf 'Complex hereditary spastic paraplegia' 'Spastic paraplegia type 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004884 'Spastic paraplegia type 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001835 'Spastic paraplegia type 2' SubClassOf 'Leukodystrophy' 'Spastic paraplegia type 2' SubClassOf 'Pure or complex X-linked spastic paraplegia' 'Spastic paraplegia type 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018609 http://www.orpha.net/ORDO/Orphanet_353314 Pyruvate carboxylase deficiency, severe neonatal type 'Pyruvate carboxylase deficiency, severe neonatal type' SubClassOf 'pyruvate carboxylase deficiency disease' http://www.orpha.net/ORDO/Orphanet_99014 X-linked Charcot-Marie-Tooth disease type 5 'X-linked Charcot-Marie-Tooth disease type 5' SubClassOf 'X-linked Charcot-Marie-Tooth disease' 'X-linked Charcot-Marie-Tooth disease type 5' SubClassOf 'Disorder of purine metabolism' 'X-linked Charcot-Marie-Tooth disease type 5' SubClassOf 'Developmental anomaly of metabolic origin' 'X-linked Charcot-Marie-Tooth disease type 5' SubClassOf 'X-linked Charcot-Marie-Tooth disease' 'X-linked Charcot-Marie-Tooth disease type 5' SubClassOf 'Disorder of purine metabolism' 'X-linked Charcot-Marie-Tooth disease type 5' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018609 http://purl.obolibrary.org/obo/UBERON_0007383 enveloping layer 'enveloping layer' SubClassOf http://purl.obolibrary.org/obo/UBERON_0010371 'enveloping layer' SubClassOf http://purl.obolibrary.org/obo/UBERON_0000490 http://purl.obolibrary.org/obo/CHEBI_8100 3-phenyllactate '3-phenyllactate' SubClassOf 'chemical entity' '3-phenyllactate' SubClassOf 'chemical entity' http://www.ebi.ac.uk/efo/EFO_0006561 CX-1 'CX-1' SubClassOf 'cancer cell line' 'CX-1' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'CX-1' SubClassOf 'colorectal cancer cell line' 'CX-1' SubClassOf 'has_quality' some 'female' 'CX-1' SubClassOf 'cultured cell' 'CX-1' SubClassOf 'bearer_of' some 'colorectal adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0007892 donor genotype effect measurement 'donor genotype effect measurement' SubClassOf 'is_about' some 'genotype' http://www.ebi.ac.uk/efo/EFO_0006560 CW-2 'CW-2' SubClassOf 'cancer cell line' 'CW-2' SubClassOf 'colorectal cancer cell line' 'CW-2' SubClassOf 'bearer_of' some 'colorectal adenocarcinoma' 'CW-2' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'CW-2' SubClassOf 'cultured cell' http://www.orpha.net/ORDO/Orphanet_284979 Neonatal Marfan syndrome 'Neonatal Marfan syndrome' SubClassOf 'Rare disease with thoracic aortic aneurysm and aortic dissection' 'Neonatal Marfan syndrome' SubClassOf 'Marfan and Marfan-related disorder' 'Neonatal Marfan syndrome' SubClassOf 'Rare disease with thoracic aortic aneurysm and aortic dissection' 'Neonatal Marfan syndrome' SubClassOf 'Marfan and Marfan-related disorder' http://www.ebi.ac.uk/efo/EFO_0007890 pericardial adipose tissue measurement 'pericardial adipose tissue measurement' SubClassOf 'is_about' some 'pericardial fat' http://www.ebi.ac.uk/efo/EFO_0005233 CH12.LX 'CH12.LX' SubClassOf 'has_quality' some 'female' 'CH12.LX' SubClassOf 'bearer_of' some 'lymphoma' 'CH12.LX' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('blood' and ('part_of' some 'Mus musculus')))) http://www.ebi.ac.uk/efo/EFO_0006565 DV-90 'DV-90' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) 'DV-90' SubClassOf 'bearer_of' some 'lung adenocarcinoma' 'DV-90' SubClassOf 'cultured cell' http://purl.obolibrary.org/obo/CHEBI_132917 2-isopropylmalate '2-isopropylmalate' SubClassOf 'chemical entity' '2-isopropylmalate' SubClassOf 'chemical entity' http://www.ebi.ac.uk/efo/EFO_0005234 PFSK-1 'PFSK-1' SubClassOf 'bearer_of' some 'primitive neuroectodermal tumor' 'PFSK-1' SubClassOf 'derives_from' some ('fibroblast' and ('part_of' some ('septum of telencephalon' and ('part_of' some 'Homo sapiens')))) 'PFSK-1' SubClassOf 'has_quality' some 'male' 'PFSK-1' SubClassOf 'has_quality' some 'European' http://www.ebi.ac.uk/efo/EFO_0006564 DOK 'DOK' SubClassOf 'cultured cell' 'DOK' SubClassOf 'bearer_of' some 'dysplastic oral keratinocyte' 'DOK' SubClassOf 'has_quality' some 'male' 'DOK' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('tongue' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0005231 ECC-1 'ECC-1' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('endometrium' and ('part_of' some 'Homo sapiens')))) 'ECC-1' SubClassOf 'has_quality' some 'female' 'ECC-1' SubClassOf 'bearer_of' some 'endometrium adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0006563 DEOC-1 'DEOC-1' SubClassOf 'bearer_of' some 'melanoma' 'DEOC-1' SubClassOf 'has_quality' some 'male' 'DEOC-1' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('foot' and ('part_of' some 'Homo sapiens')))) 'DEOC-1' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0005232 endometrium adenocarcinoma 'endometrium adenocarcinoma' SubClassOf 'adenocarcinoma' 'endometrium adenocarcinoma' SubClassOf 'endometrial carcinoma' 'endometrium adenocarcinoma' SubClassOf 'adenocarcinoma' 'endometrium adenocarcinoma' SubClassOf 'has_disease_location' some 'endometrium' 'endometrium adenocarcinoma' SubClassOf 'endometrial carcinoma' http://www.ebi.ac.uk/efo/EFO_0006562 DAN-G 'DAN-G' SubClassOf 'cultured cell' 'DAN-G' SubClassOf 'bearer_of' some 'pancreatic carcinoma' 'DAN-G' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0005237 U-87 MG 'U-87 MG' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('brain' and ('part_of' some 'Homo sapiens')))) 'U-87 MG' SubClassOf 'has_quality' some 'male' 'U-87 MG' SubClassOf 'has_quality' some 'European' 'U-87 MG' SubClassOf 'bearer_of' some 'astrocytoma' http://www.ebi.ac.uk/efo/EFO_0006569 EFM-192B 'EFM-192B' SubClassOf 'has_quality' some 'female' 'EFM-192B' SubClassOf 'bearer_of' some 'breast carcinoma' 'EFM-192B' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('breast' and ('part_of' some 'Homo sapiens')))) 'EFM-192B' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0006568 EFM-192A 'EFM-192A' SubClassOf 'has_quality' some 'female' 'EFM-192A' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('breast' and ('part_of' some 'Homo sapiens')))) 'EFM-192A' SubClassOf 'bearer_of' some 'breast carcinoma' 'EFM-192A' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0007899 gamma-tocopherol measurement 'gamma-tocopherol measurement' SubClassOf 'is_about' some 'gamma-tocopherol' http://www.ebi.ac.uk/efo/EFO_0005235 primitive neuroectodermal tumor 'primitive neuroectodermal tumor' SubClassOf 'embryonal neoplasm' 'primitive neuroectodermal tumor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002510 'primitive neuroectodermal tumor' SubClassOf 'neoplasm' and ('has_disease_location' some ('brain' or ('part_of' some 'brain'))) 'primitive neuroectodermal tumor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016708 http://www.ebi.ac.uk/efo/EFO_0006567 obsolete_E14Tg2a 'obsolete_E14Tg2a' SubClassOf 'obsolete class' 'obsolete_E14Tg2a' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0007898 alpha-tocopherol measurement 'alpha-tocopherol measurement' SubClassOf 'is_about' some 'alpha-tocopherol' http://www.ebi.ac.uk/efo/EFO_0005236 NT2/D1 'NT2/D1' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('testis' and ('part_of' some 'Homo sapiens')))) 'NT2/D1' SubClassOf 'bearer_of' some 'embryonal carcinoma' 'NT2/D1' SubClassOf 'has_quality' some 'European' 'NT2/D1' SubClassOf 'has_quality' some 'male' http://www.ebi.ac.uk/efo/EFO_0006566 dysplastic oral keratinocyte 'dysplastic oral keratinocyte' SubClassOf 'has_disease_location' some ('epithelial cell' and ('part_of' some 'mouth')) http://purl.obolibrary.org/obo/HP_0000820 Abnormality of the thyroid gland 'Abnormality of the thyroid gland' EquivalentTo 'has part' some ('quality' and ('has component' some 'abnormal') and ('inheres in part of' some 'thyroid gland')) http://www.ebi.ac.uk/efo/EFO_0005239 aortic valve calcification 'aortic valve calcification' SubClassOf 'has_disease_location' only 'aortic valve' http://purl.obolibrary.org/obo/HP_0000823 Delayed puberty 'Delayed puberty' SubClassOf 'Abnormality of the endocrine system' 'Delayed puberty' SubClassOf 'Abnormality of the endocrine system' http://www.orpha.net/ORDO/Orphanet_353327 Congenital myasthenic syndromes with glycosylation defect 'Congenital myasthenic syndromes with glycosylation defect' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 'Congenital myasthenic syndromes with glycosylation defect' SubClassOf 'Congenital myasthenic syndromes' 'Congenital myasthenic syndromes with glycosylation defect' SubClassOf 'Disorder of protein N-glycosylation' 'Congenital myasthenic syndromes with glycosylation defect' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 'Congenital myasthenic syndromes with glycosylation defect' SubClassOf 'Congenital myasthenic syndromes' 'Congenital myasthenic syndromes with glycosylation defect' SubClassOf 'Disorder of protein N-glycosylation' http://www.orpha.net/ORDO/Orphanet_99027 Adult-onset autosomal dominant leukodystrophy 'Adult-onset autosomal dominant leukodystrophy' SubClassOf 'Leukodystrophy' 'Adult-onset autosomal dominant leukodystrophy' SubClassOf 'Partial trisomy of the long arm of chromosome 5' 'Adult-onset autosomal dominant leukodystrophy' SubClassOf 'Abnormal eye movements' 'Adult-onset autosomal dominant leukodystrophy' SubClassOf 'Leukodystrophy' 'Adult-onset autosomal dominant leukodystrophy' SubClassOf 'Partial trisomy of the long arm of chromosome 5' 'Adult-onset autosomal dominant leukodystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Adult-onset autosomal dominant leukodystrophy' SubClassOf 'Abnormal eye movements' 'Adult-onset autosomal dominant leukodystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021106 http://www.orpha.net/ORDO/Orphanet_353320 Pyruvate carboxylase deficiency, benign type 'Pyruvate carboxylase deficiency, benign type' SubClassOf 'pyruvate carboxylase deficiency disease' http://www.orpha.net/ORDO/Orphanet_284984 Aneurysm - osteoarthritis syndrome 'Aneurysm - osteoarthritis syndrome' SubClassOf 'Rare disease with thoracic aortic aneurysm and aortic dissection' 'Aneurysm - osteoarthritis syndrome' SubClassOf 'Marfan and Marfan-related disorder' 'Aneurysm - osteoarthritis syndrome' SubClassOf 'Loeys-Dietz syndrome' http://www.orpha.net/ORDO/Orphanet_99022 Niemann-Pick disease type E 'Niemann-Pick disease type E' SubClassOf 'Niemann-Pick disease' 'Niemann-Pick disease type E' SubClassOf 'Niemann-Pick disease' http://purl.obolibrary.org/obo/HP_0011451 Congenital microcephaly 'Congenital microcephaly' SubClassOf 'Microcephaly' 'Congenital microcephaly' SubClassOf 'Microcephaly' http://www.ebi.ac.uk/efo/EFO_0006473 PL-21 'PL-21' SubClassOf 'cultured cell' 'PL-21' SubClassOf 'bearer_of' some 'acute myeloid leukemia' 'PL-21' SubClassOf 'has_quality' some 'male' http://www.ebi.ac.uk/efo/EFO_0006472 Pfeiffer 'Pfeiffer' SubClassOf 'cultured cell' 'Pfeiffer' SubClassOf 'has_quality' some 'male' 'Pfeiffer' SubClassOf 'bearer_of' some 'lymphoma' 'Pfeiffer' SubClassOf 'derives_from' some ('lymphoblast' and ('part_of' some ('blood' and ('part_of' some 'Homo sapiens')))) http://www.orpha.net/ORDO/Orphanet_207028 Cerebellar ataxia with peripheral neuropathy 'Cerebellar ataxia with peripheral neuropathy' SubClassOf 'Rare hereditary neurologic disease with peripheral neuropathy' 'Cerebellar ataxia with peripheral neuropathy' SubClassOf 'Rare hereditary neurologic disease with peripheral neuropathy' http://www.ebi.ac.uk/efo/EFO_0006471 pancreatic tubular adenocarcinoma 'pancreatic tubular adenocarcinoma' SubClassOf 'pancreatic neoplasm' 'pancreatic tubular adenocarcinoma' SubClassOf 'tubular adenocarcinoma' 'pancreatic tubular adenocarcinoma' SubClassOf 'tubular adenocarcinoma' 'pancreatic tubular adenocarcinoma' SubClassOf 'pancreatic adenocarcinoma' 'pancreatic tubular adenocarcinoma' SubClassOf 'has_disease_location' some 'pancreas' http://www.ebi.ac.uk/efo/EFO_0006470 Panc 08.13 'Panc 08.13' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('pancreas' and ('part_of' some 'Homo sapiens')))) 'Panc 08.13' SubClassOf 'has_quality' some 'female' 'Panc 08.13' SubClassOf 'cultured cell' 'Panc 08.13' SubClassOf 'bearer_of' some 'pancreatic carcinoma' http://www.ebi.ac.uk/efo/EFO_0006477 RI-1 'RI-1' SubClassOf 'cultured cell' 'RI-1' SubClassOf 'has_quality' some 'female' 'RI-1' SubClassOf 'bearer_of' some 'lymphoma' http://www.orpha.net/ORDO/Orphanet_207025 Rare hereditary neurologic disease with peripheral neuropathy 'Rare hereditary neurologic disease with peripheral neuropathy' SubClassOf 'Rare hereditary disease with peripheral neuropathy' 'Rare hereditary neurologic disease with peripheral neuropathy' SubClassOf 'Rare hereditary disease with peripheral neuropathy' http://www.ebi.ac.uk/efo/EFO_0006476 RCM-1 'RCM-1' SubClassOf 'cancer cell line' 'RCM-1' SubClassOf 'colorectal cancer cell line' 'RCM-1' SubClassOf 'cultured cell' 'RCM-1' SubClassOf 'bearer_of' some 'colorectal adenocarcinoma' 'RCM-1' SubClassOf 'has_quality' some 'female' http://www.ebi.ac.uk/efo/EFO_0006475 plasma cell leukemia 'plasma cell leukemia' SubClassOf 'plasma cell neoplasm' 'plasma cell leukemia' SubClassOf 'lymphoid leukemia' 'plasma cell leukemia' SubClassOf 'plasma cell neoplasm' http://www.ebi.ac.uk/efo/EFO_0006474 PL45 'PL45' SubClassOf 'bearer_of' some 'pancreatic carcinoma' 'PL45' SubClassOf 'has_quality' some 'male' 'PL45' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('pancreas' and ('part_of' some 'Homo sapiens')))) 'PL45' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0005147 Columbia ecotype 'Columbia ecotype' SubClassOf 'part_of' some 'ecotype' http://www.ebi.ac.uk/efo/EFO_0006479 RT-112 'RT-112' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('urinary bladder' and ('part_of' some 'Homo sapiens')))) 'RT-112' SubClassOf 'has_quality' some 'female' 'RT-112' SubClassOf 'cultured cell' 'RT-112' SubClassOf 'bearer_of' some 'bladder carcinoma' http://www.ebi.ac.uk/efo/EFO_0006478 RPMI 2650 'RPMI 2650' SubClassOf 'cultured cell' 'RPMI 2650' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('nasal septum' and ('part_of' some 'Homo sapiens')))) 'RPMI 2650' SubClassOf 'has_quality' some 'male' 'RPMI 2650' SubClassOf 'bearer_of' some 'squamous cell carcinoma' http://www.orpha.net/ORDO/Orphanet_207021 Rare hereditary systemic disease with peripheral neuropathy 'Rare hereditary systemic disease with peripheral neuropathy' SubClassOf 'Rare hereditary disease with peripheral neuropathy' 'Rare hereditary systemic disease with peripheral neuropathy' SubClassOf 'Rare hereditary disease with peripheral neuropathy' http://www.ebi.ac.uk/efo/EFO_0006480 RT4 'RT4' SubClassOf 'cultured cell' 'RT4' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('urinary bladder' and ('part_of' some 'Homo sapiens')))) 'RT4' SubClassOf 'has_quality' some 'male' 'RT4' SubClassOf 'bearer_of' some 'transitional cell papilloma' http://www.ebi.ac.uk/efo/EFO_0005130 thyroxine measurement 'thyroxine measurement' SubClassOf 'is_about' some 'thyroid gland' 'thyroxine measurement' SubClassOf 'is_about' some 'thyroxine' http://www.ebi.ac.uk/efo/EFO_0006462 ovarian mucinous adenocarcinoma 'ovarian mucinous adenocarcinoma' SubClassOf 'mucinous carcinoma' 'ovarian mucinous adenocarcinoma' SubClassOf 'ovarian adenocarcinoma' 'ovarian mucinous adenocarcinoma' SubClassOf 'mucinous carcinoma' 'ovarian mucinous adenocarcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024282 http://www.ebi.ac.uk/efo/EFO_0007793 BMI-adjusted leptin measurement 'BMI-adjusted leptin measurement' SubClassOf 'is_about' some 'leptin' http://www.ebi.ac.uk/efo/EFO_0005131 HVA measurement 'HVA measurement' SubClassOf 'is_about' some 'central nervous system' 'HVA measurement' SubClassOf 'is_about' some 'mental or behavioural disorder' http://www.ebi.ac.uk/efo/EFO_0006460 ovarian adenocarcinoma 'ovarian adenocarcinoma' SubClassOf 'ovarian carcinoma' 'ovarian adenocarcinoma' SubClassOf 'adenocarcinoma' 'ovarian adenocarcinoma' SubClassOf 'ovarian carcinoma' 'ovarian adenocarcinoma' SubClassOf 'adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0007790 Epstein Barr virus nuclear antigen 1 IgG measurement 'Epstein Barr virus nuclear antigen 1 IgG measurement' SubClassOf 'is_about' some 'Epstein-Barr virus infection' http://www.ebi.ac.uk/efo/EFO_0005134 amino acid measurement 'amino acid measurement' EquivalentTo 'is_about' some 'amino acid' http://www.ebi.ac.uk/efo/EFO_0006466 Panc 02.03 'Panc 02.03' SubClassOf 'has_quality' some 'female' 'Panc 02.03' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('pancreas' and ('part_of' some 'Homo sapiens')))) 'Panc 02.03' SubClassOf 'bearer_of' some 'pancreatic carcinoma' 'Panc 02.03' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0006465 PA-1 'PA-1' SubClassOf 'has_quality' some 'female' 'PA-1' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('female gonad' and ('part_of' some 'Homo sapiens')))) 'PA-1' SubClassOf 'bearer_of' some 'ovarian teratoma' 'PA-1' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0005132 5-HIAA measurement '5-HIAA measurement' SubClassOf 'is_about' some ('carcinoid tumor' and ('has_role' some 'biomarker')) '5-HIAA measurement' SubClassOf 'is_about' some 'central nervous system' '5-HIAA measurement' SubClassOf 'is_about' some '5-HIAA' http://www.ebi.ac.uk/efo/EFO_0006464 obsolete_OVCAR433 'obsolete_OVCAR433' SubClassOf 'obsolete class' 'obsolete_OVCAR433' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0007795 anxiety disorder measurement 'anxiety disorder measurement' SubClassOf 'is_about' some 'anxiety disorder' http://www.ebi.ac.uk/efo/EFO_0005133 MHPG measurement 'MHPG measurement' SubClassOf 'is_about' some 'central nervous system' 'MHPG measurement' SubClassOf 'is_about' some 'mental or behavioural disorder' http://www.ebi.ac.uk/efo/EFO_0006463 ovarian teratoma 'ovarian teratoma' SubClassOf 'ovarian neoplasm' 'ovarian teratoma' SubClassOf 'germ cell tumor' 'ovarian teratoma' SubClassOf 'Ovarian Germ Cell Tumor' 'ovarian teratoma' SubClassOf 'has_disease_location' some 'female gonad' 'ovarian teratoma' SubClassOf 'Gonadal Teratoma' http://www.ebi.ac.uk/efo/EFO_0007794 nicotine metabolite ratio 'nicotine metabolite ratio' SubClassOf 'is_about' some 'nicotine' http://www.ebi.ac.uk/efo/EFO_0005139 serum ceruloplasmin measurement 'serum ceruloplasmin measurement' SubClassOf 'renal system measurement' 'serum ceruloplasmin measurement' SubClassOf 'is_about' some 'protein' 'serum ceruloplasmin measurement' SubClassOf 'is_about' some 'Wilson disease' 'serum ceruloplasmin measurement' SubClassOf 'is_about' some 'enzyme' http://www.ebi.ac.uk/efo/EFO_0006469 Panc 05.04 'Panc 05.04' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('pancreas' and ('part_of' some 'Homo sapiens')))) 'Panc 05.04' SubClassOf 'has_quality' some 'female' 'Panc 05.04' SubClassOf 'bearer_of' some 'pancreatic carcinoma' 'Panc 05.04' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0006468 Panc 04.03 'Panc 04.03' SubClassOf 'has_quality' some 'female' 'Panc 04.03' SubClassOf 'bearer_of' some 'pancreatic carcinoma' 'Panc 04.03' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('pancreas' and ('part_of' some 'Homo sapiens')))) 'Panc 04.03' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0007799 syntactic complexity measurement 'syntactic complexity measurement' SubClassOf 'is_about' some 'language impairment' http://www.ebi.ac.uk/efo/EFO_0005137 conduction system disorder 'conduction system disorder' SubClassOf 'heart disease' 'conduction system disorder' SubClassOf 'has_disease_location' some ('heart' or ('part_of' some 'heart')) 'conduction system disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003939 'conduction system disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024643 http://www.ebi.ac.uk/efo/EFO_0006467 Panc 03.27 'Panc 03.27' SubClassOf 'cultured cell' 'Panc 03.27' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('pancreas' and ('part_of' some 'Homo sapiens')))) 'Panc 03.27' SubClassOf 'has_quality' some 'female' 'Panc 03.27' SubClassOf 'bearer_of' some 'pancreatic carcinoma' http://www.ebi.ac.uk/efo/EFO_0007798 linguistic error measurement 'linguistic error measurement' SubClassOf 'is_about' some 'language impairment' http://purl.obolibrary.org/obo/NCBITaxon_189291 Meloidogyne graminicola 'Meloidogyne graminicola' SubClassOf 'Nematoda' 'Meloidogyne graminicola' SubClassOf 'Nematoda' http://www.ebi.ac.uk/efo/EFO_0006495 SUIT-2 'SUIT-2' SubClassOf 'cultured cell' 'SUIT-2' SubClassOf 'bearer_of' some 'pancreatic tubular adenocarcinoma' 'SUIT-2' SubClassOf 'has_quality' some 'male' http://www.ebi.ac.uk/efo/EFO_0005164 Calver ecotype 'Calver ecotype' SubClassOf 'part_of' some 'ecotype' http://www.ebi.ac.uk/efo/EFO_0006494 SU.86.86 'SU.86.86' SubClassOf 'cancer cell line' 'SU.86.86' SubClassOf 'has_quality' some 'female' 'SU.86.86' SubClassOf 'breast adenocarcinoma cell line' 'SU.86.86' SubClassOf 'cultured cell' 'SU.86.86' SubClassOf 'bearer_of' some 'pancreatic ductal adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0006493 SU-DHL-8 'SU-DHL-8' SubClassOf 'has_quality' some 'male' 'SU-DHL-8' SubClassOf 'bearer_of' some 'lymphoma' 'SU-DHL-8' SubClassOf 'cultured cell' 'SU-DHL-8' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('lymph node' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0006492 SU-DHL-4 'SU-DHL-4' SubClassOf 'bearer_of' some 'lymphoma' 'SU-DHL-4' SubClassOf 'cultured cell' 'SU-DHL-4' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('lymph node' and ('part_of' some 'Homo sapiens')))) 'SU-DHL-4' SubClassOf 'has_quality' some 'male' http://www.ebi.ac.uk/efo/EFO_0006499 U-2932 'U-2932' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('lymph node' and ('part_of' some 'Homo sapiens')))) 'U-2932' SubClassOf 'bearer_of' some 'diffuse large B-cell lymphoma' 'U-2932' SubClassOf 'cultured cell' 'U-2932' SubClassOf 'has_quality' some 'female' http://www.ebi.ac.uk/efo/EFO_0006498 U-251 MG 'U-251 MG' SubClassOf 'derives_from' some ('glial cell' and ('part_of' some ('brain' and ('part_of' some 'Homo sapiens')))) 'U-251 MG' SubClassOf 'bearer_of' some 'glioma' 'U-251 MG' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0006497 transitional cell papilloma 'transitional cell papilloma' SubClassOf 'neoplasm' 'transitional cell papilloma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002363 http://www.orpha.net/ORDO/Orphanet_207049 Qualitative or quantitative protein defects in neuromuscular diseases 'Qualitative or quantitative protein defects in neuromuscular diseases' SubClassOf 'Rare genetic neurological disorder' http://www.ebi.ac.uk/efo/EFO_0005166 Blanes ecotype 'Blanes ecotype' SubClassOf 'part_of' some 'ecotype' http://www.ebi.ac.uk/efo/EFO_0006496 TMD8 'TMD8' SubClassOf 'has_quality' some 'male' 'TMD8' SubClassOf 'cultured cell' 'TMD8' SubClassOf 'bearer_of' some 'diffuse large B-cell lymphoma' 'TMD8' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('lymph node' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0005169 Burren ecotype 'Burren ecotype' SubClassOf 'part_of' some 'ecotype' http://www.ebi.ac.uk/efo/EFO_0005171 Bologna ecotype 'Bologna ecotype' SubClassOf 'part_of' some 'ecotype' http://www.ebi.ac.uk/efo/EFO_0006484 SCC-3 'SCC-3' SubClassOf 'bearer_of' some 'lymphoma' 'SCC-3' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0006483 SCC-25 'SCC-25' SubClassOf 'cultured cell' 'SCC-25' SubClassOf 'bearer_of' some 'squamous cell carcinoma' 'SCC-25' SubClassOf 'has_quality' some 'male' http://www.ebi.ac.uk/efo/EFO_0006482 SCC-15 'SCC-15' SubClassOf 'bearer_of' some 'squamous cell carcinoma' 'SCC-15' SubClassOf 'has_quality' some 'male' 'SCC-15' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0006481 SC-1 'SC-1' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('blood' and ('part_of' some 'Homo sapiens')))) 'SC-1' SubClassOf 'bearer_of' some 'lymphoma' 'SC-1' SubClassOf 'has_quality' some 'male' 'SC-1' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0005156 Wassilewskija ecotype 'Wassilewskija ecotype' SubClassOf 'part_of' some 'ecotype' http://www.ebi.ac.uk/efo/EFO_0006488 SK-MEL-30 'SK-MEL-30' SubClassOf 'bearer_of' some 'melanoma' 'SK-MEL-30' SubClassOf 'cultured cell' 'SK-MEL-30' SubClassOf 'has_quality' some 'male' http://www.ebi.ac.uk/efo/EFO_0006487 SK-MEL-24 'SK-MEL-24' SubClassOf 'bearer_of' some 'melanoma' 'SK-MEL-24' SubClassOf 'has_quality' some 'male' 'SK-MEL-24' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0005154 Landsberg ecotype 'Landsberg ecotype' SubClassOf 'part_of' some 'ecotype' http://www.ebi.ac.uk/efo/EFO_0006486 SET-2 'SET-2' SubClassOf 'cultured cell' 'SET-2' SubClassOf 'has_quality' some 'female' 'SET-2' SubClassOf 'bearer_of' some 'essential thrombocythemia' http://www.ebi.ac.uk/efo/EFO_0006485 SCC-9 'SCC-9' SubClassOf 'cultured cell' 'SCC-9' SubClassOf 'has_quality' some 'male' 'SCC-9' SubClassOf 'bearer_of' some 'squamous cell carcinoma' http://purl.obolibrary.org/obo/CHEBI_53766 acenocoumarol 'acenocoumarol' SubClassOf 'has_role' some 'anticoagulant' http://www.ebi.ac.uk/efo/EFO_0006489 SK-MEL-31 'SK-MEL-31' SubClassOf 'has_quality' some 'female' 'SK-MEL-31' SubClassOf 'cultured cell' 'SK-MEL-31' SubClassOf 'bearer_of' some 'melanoma' http://purl.obolibrary.org/obo/CLO_0034915 AG04655 'AG04655' SubClassOf 'has_quality' some 'male' 'AG04655' SubClassOf 'derives_from' some ('fibroblast' and ('part_of' some ('arm' and ('part_of' some 'Homo sapiens')))) 'AG04655' SubClassOf 'cultured cell' http://purl.obolibrary.org/obo/CHEBI_9407 taurochenodeoxycholate 'taurochenodeoxycholate' SubClassOf 'chemical entity' 'taurochenodeoxycholate' SubClassOf 'chemical entity' http://www.ebi.ac.uk/efo/EFO_0006491 SR-786 'SR-786' SubClassOf 'bearer_of' some 'lymphoma' 'SR-786' SubClassOf 'cultured cell' 'SR-786' SubClassOf 'has_quality' some 'male' 'SR-786' SubClassOf 'derives_from' some ('T cell' and ('part_of' some ('blood' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0005160 Umkirch ecotype 'Umkirch ecotype' SubClassOf 'part_of' some 'ecotype' http://www.ebi.ac.uk/efo/EFO_0006490 SK23 'SK23' SubClassOf 'bearer_of' some 'melanoma' 'SK23' SubClassOf 'cultured cell' http://www.orpha.net/ORDO/Orphanet_207052 Qualitative or quantitative defects of sarcoglycan 'Qualitative or quantitative defects of sarcoglycan' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' 'Qualitative or quantitative defects of sarcoglycan' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044971 'Qualitative or quantitative defects of sarcoglycan' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' http://www.ebi.ac.uk/efo/EFO_0005185 terminal ileum 'terminal ileum' SubClassOf 'part_of' some 'small intestine' http://www.ebi.ac.uk/efo/EFO_0005186 uterus fundus 'uterus fundus' SubClassOf 'part_of' some 'uterus' http://www.ebi.ac.uk/efo/EFO_0005189 respiratory quotient 'respiratory quotient' SubClassOf 'is_about' some 'metabolic process' http://www.ebi.ac.uk/efo/EFO_0005187 C-peptide measurement 'C-peptide measurement' SubClassOf ('is_about' some 'diabetes mellitus') or ('is_about' some 'insulin resistance') 'C-peptide measurement' SubClassOf 'is_about' some ('Multiple endocrine neoplasia' and ('has_role' some 'biomarker')) http://www.ebi.ac.uk/efo/EFO_0005188 CCL11 measurement 'CCL11 measurement' SubClassOf 'is_about' some 'cytokine' 'CCL11 measurement' SubClassOf 'is_about' some 'inflammatory response' http://purl.obolibrary.org/obo/CHEBI_27470 folic acid 'folic acid' SubClassOf 'has_role' some 'vitamin' http://www.orpha.net/ORDO/Orphanet_207067 Qualitative or quantitative defects of gamma-sarcoglycan 'Qualitative or quantitative defects of gamma-sarcoglycan' SubClassOf 'Qualitative or quantitative defects of sarcoglycan' 'Qualitative or quantitative defects of gamma-sarcoglycan' SubClassOf 'Qualitative or quantitative defects of sarcoglycan' http://www.ebi.ac.uk/efo/EFO_0005192 red blood cell distribution width 'red blood cell distribution width' SubClassOf ('is_about' some 'hemorrhage') or ('is_about' some 'vitamin B12 deficiency') or ('is_about' some 'anemia') http://www.orpha.net/ORDO/Orphanet_207060 Qualitative or quantitative defects of alpha-sarcoglycan 'Qualitative or quantitative defects of alpha-sarcoglycan' SubClassOf 'Qualitative or quantitative defects of sarcoglycan' 'Qualitative or quantitative defects of alpha-sarcoglycan' SubClassOf 'Qualitative or quantitative defects of sarcoglycan' http://www.orpha.net/ORDO/Orphanet_207063 Qualitative or quantitative defects of beta-sarcoglycan 'Qualitative or quantitative defects of beta-sarcoglycan' SubClassOf 'Qualitative or quantitative defects of sarcoglycan' 'Qualitative or quantitative defects of beta-sarcoglycan' SubClassOf 'Qualitative or quantitative defects of sarcoglycan' http://www.ebi.ac.uk/efo/EFO_0005174 Bayreuth ecotype 'Bayreuth ecotype' SubClassOf 'part_of' some 'ecotype' http://purl.obolibrary.org/obo/UBERON_0019189 carotid artery endothelium 'carotid artery endothelium' SubClassOf 'endothelium' 'carotid artery endothelium' SubClassOf http://purl.obolibrary.org/obo/UBERON_0001917 http://www.ebi.ac.uk/efo/EFO_0005178 San Eleno ecotype 'San Eleno ecotype' SubClassOf 'part_of' some 'ecotype' http://www.ebi.ac.uk/efo/EFO_0005176 Coimbra ecotype 'Coimbra ecotype' SubClassOf 'part_of' some 'ecotype' http://purl.obolibrary.org/obo/HP_0000767 Pectus excavatum 'Pectus excavatum' SubClassOf 'abnormality of the thorax' 'Pectus excavatum' SubClassOf 'abnormality of the thorax' http://purl.obolibrary.org/obo/HP_0000774 Narrow chest 'Narrow chest' SubClassOf 'abnormality of the thorax' 'Narrow chest' SubClassOf 'abnormality of the thorax' http://www.orpha.net/ORDO/Orphanet_207070 Qualitative or quantitative defects of delta-sarcoglycan 'Qualitative or quantitative defects of delta-sarcoglycan' SubClassOf 'Qualitative or quantitative defects of sarcoglycan' 'Qualitative or quantitative defects of delta-sarcoglycan' SubClassOf 'Qualitative or quantitative defects of sarcoglycan' http://purl.obolibrary.org/obo/CHEBI_26155 plant growth regulator 'plant growth regulator' SubClassOf 'inheres_in' some 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_27487 3-(imidazol-5-yl)lactic acid '3-(imidazol-5-yl)lactic acid' SubClassOf 'acid' '3-(imidazol-5-yl)lactic acid' SubClassOf 'acid' http://purl.obolibrary.org/obo/CHEBI_75168 1-oleoyl-sn-glycero-3-phosphoethanolamine '1-oleoyl-sn-glycero-3-phosphoethanolamine' SubClassOf 'phospholipid' '1-oleoyl-sn-glycero-3-phosphoethanolamine' SubClassOf 'phospholipid' http://purl.obolibrary.org/obo/HP_0012745 Short palpebral fissure 'Short palpebral fissure' SubClassOf 'abnormality of the face' 'Short palpebral fissure' SubClassOf 'abnormality of the face' http://www.orpha.net/ORDO/Orphanet_207078 Qualitative or quantitative defects of caveolin-3 'Qualitative or quantitative defects of caveolin-3' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' 'Qualitative or quantitative defects of caveolin-3' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' http://purl.obolibrary.org/obo/CHEBI_41774 tamoxifen 'tamoxifen' SubClassOf 'has_role' some 'antineoplastic agent' http://www.orpha.net/ORDO/Orphanet_207073 Qualitative or quantitative defects of dysferlin 'Qualitative or quantitative defects of dysferlin' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' 'Qualitative or quantitative defects of dysferlin' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' http://purl.obolibrary.org/obo/BTO_0002278 macrophage cell line 'macrophage cell line' EquivalentTo 'derives_from' some ('macrophage' and ('part_of' some ('organism part' and ('part_of' some 'organism')))) http://purl.obolibrary.org/obo/BTO_0002279 J-774 cell 'J-774 cell' SubClassOf 'derives_from' some ('cell type' and ('part_of' some (('developmental stage' or 'organism part') and ('part_of' some 'Mus')))) http://purl.obolibrary.org/obo/CL_0002608 hippocampal neuron 'hippocampal neuron' SubClassOf 'located_in' some 'hippocampus' http://purl.obolibrary.org/obo/CHEBI_40410 N-acetylglycine 'N-acetylglycine' SubClassOf 'chemical entity' 'N-acetylglycine' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_207085 Qualitative or quantitative defects of dystrophin 'Qualitative or quantitative defects of dystrophin' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' 'Qualitative or quantitative defects of dystrophin' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' http://purl.obolibrary.org/obo/CHEBI_88494 Epsilon-(gamma-Glutamyl)-lysine 'Epsilon-(gamma-Glutamyl)-lysine' SubClassOf 'acid' 'Epsilon-(gamma-Glutamyl)-lysine' SubClassOf 'acid' http://www.ebi.ac.uk/efo/EFO_0005196 vasoactive peptide measurement 'vasoactive peptide measurement' SubClassOf 'is_about' some 'cardiovascular disease' http://www.ebi.ac.uk/efo/EFO_0005197 beta-2 microglobulin measurement 'beta-2 microglobulin measurement' SubClassOf ('is_about' some 'multiple myeloma') or ('is_about' some 'liver disease') or ('is_about' some 'kidney disease') or ('is_about' some 'hematologic disease') 'beta-2 microglobulin measurement' SubClassOf 'is_about' some 'protein' http://www.ebi.ac.uk/efo/EFO_0005194 amyloid-beta measurement 'amyloid-beta measurement' SubClassOf 'is_about' some 'protein' 'amyloid-beta measurement' SubClassOf 'is_about' some 'Alzheimer's disease' 'amyloid-beta measurement' SubClassOf 'is_about' some 'beta amyloid' http://www.ebi.ac.uk/efo/EFO_0005195 response to cholinesterase inhibitor 'response to cholinesterase inhibitor' SubClassOf 'is_about' some 'cholinesterase inhibitor' http://purl.obolibrary.org/obo/HP_0009124 Abnormality of adipose tissue 'Abnormality of adipose tissue' EquivalentTo 'has part' some ('quality' and ('has component' some 'abnormal') and ('inheres in part of' some 'adipose tissue')) http://www.ebi.ac.uk/efo/EFO_0005199 renal transplant outcome measurement 'renal transplant outcome measurement' SubClassOf 'is_about' some 'renal system' http://purl.obolibrary.org/obo/CL_0002617 adipocyte of breast 'adipocyte of breast' SubClassOf 'part_of' some 'breast' http://purl.obolibrary.org/obo/CL_0002618 endothelial cell of umbilical vein 'endothelial cell of umbilical vein' EquivalentTo 'endothelial cell' and ('part_of' some 'umbilical vein') 'endothelial cell of umbilical vein' SubClassOf 'part_of' some 'umbilical vein' http://www.orpha.net/ORDO/Orphanet_207090 Qualitative or quantitative defects of collagen 6 'Qualitative or quantitative defects of collagen 6' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' 'Qualitative or quantitative defects of collagen 6' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004603 'Qualitative or quantitative defects of collagen 6' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 'Qualitative or quantitative defects of collagen 6' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' http://purl.obolibrary.org/obo/CHEBI_26130 pigment 'pigment' SubClassOf 'part_of' some 'integumental system' http://purl.obolibrary.org/obo/CLO_0033628 GM13811 'GM13811' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM13811' SubClassOf 'has_quality' some 'male' 'GM13811' SubClassOf 'cultured cell' http://www.orpha.net/ORDO/Orphanet_207098 Qualitative or quantitative defects of integrin alpha-7 'Qualitative or quantitative defects of integrin alpha-7' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' 'Qualitative or quantitative defects of integrin alpha-7' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' http://purl.obolibrary.org/obo/CHEBI_27468 5,6-dihydrothymine '5,6-dihydrothymine' SubClassOf 'chemical entity' '5,6-dihydrothymine' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_207094 Qualitative or quantitative defects of merosin 'Qualitative or quantitative defects of merosin' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' 'Qualitative or quantitative defects of merosin' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' http://www.orpha.net/ORDO/Orphanet_364063 Infantile epileptic-dyskinetic encephalopathy 'Infantile epileptic-dyskinetic encephalopathy' SubClassOf 'ARX-related epileptic encephalopathy' 'Infantile epileptic-dyskinetic encephalopathy' SubClassOf 'Persistent combined dystonia' 'Infantile epileptic-dyskinetic encephalopathy' SubClassOf 'ARX-related epileptic encephalopathy' 'Infantile epileptic-dyskinetic encephalopathy' SubClassOf 'Persistent combined dystonia' http://purl.obolibrary.org/obo/CL_0002633 repiratory basal cell 'repiratory basal cell' SubClassOf 'part_of' some 'respiratory epithelial cell' http://purl.obolibrary.org/obo/CHEBI_27432 alpha-linolenic acid 'alpha-linolenic acid' SubClassOf 'linolenic acid' 'alpha-linolenic acid' SubClassOf 'linolenic acid' http://purl.obolibrary.org/obo/CHEBI_16763 2-oxobutanoate '2-oxobutanoate' SubClassOf 'chemical entity' '2-oxobutanoate' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_163746 Neurologic Waardenburg-Shah syndrome 'Neurologic Waardenburg-Shah syndrome' SubClassOf 'Pigmentation disorder with eye involvement, excluding albinism' 'Neurologic Waardenburg-Shah syndrome' SubClassOf 'Leukodystrophy' 'Neurologic Waardenburg-Shah syndrome' SubClassOf 'Genetic peripheral neuropathy' 'Neurologic Waardenburg-Shah syndrome' SubClassOf 'Genetic hypopigmentation of the skin' 'Neurologic Waardenburg-Shah syndrome' SubClassOf 'Syndromic genetic deafness' 'Neurologic Waardenburg-Shah syndrome' SubClassOf 'Pigmentation disorder with eye involvement, excluding albinism' 'Neurologic Waardenburg-Shah syndrome' SubClassOf 'Leukodystrophy' 'Neurologic Waardenburg-Shah syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021189 'Neurologic Waardenburg-Shah syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 'Neurologic Waardenburg-Shah syndrome' SubClassOf 'Genetic peripheral neuropathy' 'Neurologic Waardenburg-Shah syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 'Neurologic Waardenburg-Shah syndrome' SubClassOf 'Genetic hypopigmentation of the skin' 'Neurologic Waardenburg-Shah syndrome' SubClassOf 'Syndromic genetic deafness' http://purl.obolibrary.org/obo/CHEBI_16794 scopolamine 'scopolamine' SubClassOf 'has_role' some 'drug role' http://www.orpha.net/ORDO/Orphanet_391665 Homozygous familial hypercholesterolemia 'Homozygous familial hypercholesterolemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0007750 'Homozygous familial hypercholesterolemia' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://purl.obolibrary.org/obo/CHEBI_16797 1-methylnicotinamide '1-methylnicotinamide' SubClassOf 'chemical entity' '1-methylnicotinamide' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_27410 N-methyl-6-pyridone-3-carboxamide 'N-methyl-6-pyridone-3-carboxamide' SubClassOf 'chemical entity' 'N-methyl-6-pyridone-3-carboxamide' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_28748 doxorubicin 'doxorubicin' SubClassOf 'has_role' some 'antimicrobial agent' http://www.orpha.net/ORDO/Orphanet_391677 Short stature-optic atrophy-Pelger-Huët anomaly syndrome 'Short stature-optic atrophy-Pelger-Huët anomaly syndrome' SubClassOf 'Genetic malformation syndrome with short stature' 'Short stature-optic atrophy-Pelger-Huët anomaly syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Short stature-optic atrophy-Pelger-Huët anomaly syndrome' SubClassOf 'Genetic malformation syndrome with short stature' 'Short stature-optic atrophy-Pelger-Huët anomaly syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018609 http://purl.obolibrary.org/obo/CHEBI_28757 fructose 'fructose' SubClassOf 'carbohydrate' 'fructose' SubClassOf 'carbohydrate' http://www.orpha.net/ORDO/Orphanet_235936 Familial hyperaldosteronism 'Familial hyperaldosteronism' EquivalentTo 'hyperaldosteronism' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) 'Familial hyperaldosteronism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016508 'Familial hyperaldosteronism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003847 'Familial hyperaldosteronism' SubClassOf 'hyperaldosteronism' http://purl.obolibrary.org/obo/CHEBI_28717 O-decanoyl-L-carnitine 'O-decanoyl-L-carnitine' SubClassOf 'lipid' 'O-decanoyl-L-carnitine' SubClassOf 'lipid' http://purl.obolibrary.org/obo/CHEBI_16734 N-acetyl-D-tryptophan 'N-acetyl-D-tryptophan' SubClassOf 'chemical entity' 'N-acetyl-D-tryptophan' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_163721 Rolandic epilepsy - speech dyspraxia 'Rolandic epilepsy - speech dyspraxia' SubClassOf 'X-linked syndromic intellectual disability' 'Rolandic epilepsy - speech dyspraxia' SubClassOf 'Childhood-onset epilepsy syndrome' 'Rolandic epilepsy - speech dyspraxia' SubClassOf 'X-linked syndromic intellectual disability' 'Rolandic epilepsy - speech dyspraxia' SubClassOf 'Landau-Kleffner syndrome' http://purl.obolibrary.org/obo/CHEBI_16731 cinnamaldehyde 'cinnamaldehyde' SubClassOf 'has_role' some 'antifungal drug' http://purl.obolibrary.org/obo/CL_0000010 cultured cell 'cultured cell' DisjointWith 'cell type' 'cultured cell' SubClassOf 'participates_in' some 'experimental process' http://www.orpha.net/ORDO/Orphanet_163717 Benign familial mesial temporal lobe epilepsy 'Benign familial mesial temporal lobe epilepsy' SubClassOf 'Familial partial epilepsy' 'Benign familial mesial temporal lobe epilepsy' SubClassOf 'Familial partial epilepsy' http://purl.obolibrary.org/obo/CL_0000019 sperm 'sperm' SubClassOf 'part_of' some 'male reproductive system' http://purl.obolibrary.org/obo/CL_0000023 oocyte 'oocyte' SubClassOf 'part_of' some 'female reproductive system' http://purl.obolibrary.org/obo/CHEBI_28733 1-linoleoyl-sn-glycero-3-phosphocholine '1-linoleoyl-sn-glycero-3-phosphocholine' SubClassOf 'chemical entity' '1-linoleoyl-sn-glycero-3-phosphocholine' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_163708 Cryptogenic late-onset epileptic spasms 'Cryptogenic late-onset epileptic spasms' SubClassOf 'Childhood-onset epilepsy syndrome' 'Cryptogenic late-onset epileptic spasms' SubClassOf 'Childhood-onset epilepsy syndrome' http://purl.obolibrary.org/obo/CHEBI_15428 glycine 'glycine' SubClassOf 'amino acid' 'glycine' SubClassOf 'amino acid' http://purl.obolibrary.org/obo/CL_0000037 hematopoietic stem cell 'hematopoietic stem cell' SubClassOf 'located_in' some 'hematopoietic system' http://www.orpha.net/ORDO/Orphanet_207018 Rare hereditary metabolic disease with peripheral neuropathy 'Rare hereditary metabolic disease with peripheral neuropathy' SubClassOf 'Rare hereditary disease with peripheral neuropathy' 'Rare hereditary metabolic disease with peripheral neuropathy' SubClassOf 'Rare hereditary disease with peripheral neuropathy' http://www.orpha.net/ORDO/Orphanet_207015 Rare hereditary disease with peripheral neuropathy 'Rare hereditary disease with peripheral neuropathy' SubClassOf 'Genetic peripheral neuropathy' 'Rare hereditary disease with peripheral neuropathy' SubClassOf 'Genetic peripheral neuropathy' http://purl.obolibrary.org/obo/CHEBI_15414 S-adenosyl-L-methionine 'S-adenosyl-L-methionine' SubClassOf 'has_role' some 'coenzyme' http://purl.obolibrary.org/obo/CL_0000038 erythroid progenitor cell 'erythroid progenitor cell' SubClassOf 'located_in' some 'hematopoietic system' http://www.orpha.net/ORDO/Orphanet_222628 Hereditary poikiloderma 'Hereditary poikiloderma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019268 http://www.orpha.net/ORDO/Orphanet_163727 Rolandic epilepsy - paroxysmal exercise-induced dystonia - writer's cramp 'Rolandic epilepsy - paroxysmal exercise-induced dystonia - writer's cramp' SubClassOf 'Childhood-onset epilepsy syndrome' 'Rolandic epilepsy - paroxysmal exercise-induced dystonia - writer's cramp' SubClassOf 'Childhood-onset epilepsy syndrome' http://www.orpha.net/ORDO/Orphanet_207012 Spinal muscular atrophy associated with central nervous system anomaly 'Spinal muscular atrophy associated with central nervous system anomaly' SubClassOf 'Bulbospinal muscular atrophy' 'Spinal muscular atrophy associated with central nervous system anomaly' SubClassOf 'Bulbospinal muscular atrophy' http://purl.obolibrary.org/obo/CHEBI_16811 methionine 'methionine' SubClassOf 'has_role' some 'metabolite role' http://purl.obolibrary.org/obo/CHEBI_16810 2-oxoglutarate(2-) '2-oxoglutarate(2-)' SubClassOf 'chemical entity' '2-oxoglutarate(2-)' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CL_0000057 fibroblast 'fibroblast' SubClassOf 'located_in' some 'connective tissue' http://purl.obolibrary.org/obo/CL_0000056 myoblast 'myoblast' SubClassOf 'participates_in' some 'embryo' http://purl.obolibrary.org/obo/CHEBI_8093 phenylephrine 'phenylephrine' SubClassOf ('has_role' some 'alpha-adrenergic agonist') and ('has_role' some 'cardiotonic drug') and ('has_role' some 'vasoconstrictor agent') http://purl.obolibrary.org/obo/CL_0000065 ependymal cell 'ependymal cell' SubClassOf 'has_plasma_membrane_part' some 'cilium' http://purl.obolibrary.org/obo/CL_0000062 osteoblast 'osteoblast' SubClassOf 'located_in' some 'bone' http://purl.obolibrary.org/obo/UBERON_0007213 mesenchyme derived from head neural crest 'mesenchyme derived from head neural crest' SubClassOf 'head mesenchyme' 'mesenchyme derived from head neural crest' SubClassOf 'head mesenchyme' 'mesenchyme derived from head neural crest' SubClassOf 'develops_from' some 'cranial neural crest' http://purl.obolibrary.org/obo/CHEBI_16831 3-hydroxy-3-methylglutaric acid '3-hydroxy-3-methylglutaric acid' SubClassOf 'acid' '3-hydroxy-3-methylglutaric acid' SubClassOf 'acid' http://purl.obolibrary.org/obo/UBERON_0009881 anterior lateral plate mesoderm 'anterior lateral plate mesoderm' DisjointWith 'posterior lateral plate mesoderm' 'anterior lateral plate mesoderm' SubClassOf 'develops_from' some 'mesoderm' 'anterior lateral plate mesoderm' SubClassOf 'part_of' some 'mesoderm' http://purl.obolibrary.org/obo/CL_0000071 blood vessel endothelial cell 'blood vessel endothelial cell' SubClassOf 'located_in' some 'blood vessel' http://www.orpha.net/ORDO/Orphanet_391711 Persistent combined dystonia 'Persistent combined dystonia' SubClassOf 'Combined dystonia' 'Persistent combined dystonia' SubClassOf 'Combined dystonia' http://purl.obolibrary.org/obo/CHEBI_16815 enol-phenylpyruvate 'enol-phenylpyruvate' SubClassOf 'chemical entity' 'enol-phenylpyruvate' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_53540 Goldmann-Favre syndrome 'Goldmann-Favre syndrome' SubClassOf 'Vitreoretinal degeneration' 'Goldmann-Favre syndrome' SubClassOf 'Unclassified primitive or secondary maculopathy' 'Goldmann-Favre syndrome' SubClassOf 'Vitreoretinal degeneration' 'Goldmann-Favre syndrome' SubClassOf 'Unclassified primitive or secondary maculopathy' http://purl.obolibrary.org/obo/CL_0000080 circulating cell 'circulating cell' SubClassOf 'located_in' some 'hematopoietic system' http://purl.obolibrary.org/obo/CL_0000084 T cell 'T cell' SubClassOf 'located_in' some 'hematopoietic system' http://purl.obolibrary.org/obo/CL_0000083 exocrine pancreas cell 'exocrine pancreas cell' SubClassOf 'located_in' some 'pancreas' http://purl.obolibrary.org/obo/CL_0000081 blood cell 'blood cell' SubClassOf 'located_in' some 'hematopoietic system' 'blood cell' SubClassOf 'located_in' some 'blood' http://purl.obolibrary.org/obo/CL_0000094 granulocyte 'granulocyte' SubClassOf 'located_in' some 'hematopoietic system' http://www.ebi.ac.uk/efo/EFO_0007700 exploratory eye movement measurement 'exploratory eye movement measurement' SubClassOf 'is_about' some 'schizophrenia' http://www.ebi.ac.uk/efo/EFO_0007705 manic episode measurement 'manic episode measurement' SubClassOf 'is_about' some 'bipolar disorder' http://www.ebi.ac.uk/efo/EFO_0007704 depressive episode measurement 'depressive episode measurement' SubClassOf 'is_about' some 'mental or behavioural disorder' http://www.ebi.ac.uk/efo/EFO_0007709 p-tau:beta-amyloid 1-42 ratio measurement 'p-tau:beta-amyloid 1-42 ratio measurement' SubClassOf 'is_about' some 'Alzheimer's disease' http://www.ebi.ac.uk/efo/EFO_0007708 t-tau:beta-amyloid 1-42 ratio measurement 't-tau:beta-amyloid 1-42 ratio measurement' SubClassOf 'is_about' some 'protein' 't-tau:beta-amyloid 1-42 ratio measurement' SubClassOf 'is_about' some 'Alzheimer's disease' http://www.ebi.ac.uk/efo/EFO_0007707 cerebral amyloid deposition measurement 'cerebral amyloid deposition measurement' SubClassOf 'is_about' some 'protein' 'cerebral amyloid deposition measurement' SubClassOf 'is_about' some 'Alzheimer's disease' http://purl.obolibrary.org/obo/CHEBI_8069 phenobarbital 'phenobarbital' SubClassOf ('has_role' some 'anticonvulsant') or ('has_role' some 'sedative drug') http://www.orpha.net/ORDO/Orphanet_53583 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity 'Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity' SubClassOf 'Paroxysmal dystonia' 'Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity' SubClassOf 'Paroxysmal dystonia' http://purl.obolibrary.org/obo/UBERON_0007292 presumptive rhombomere 5 'presumptive rhombomere 5' SubClassOf http://purl.obolibrary.org/obo/UBERON_0006598 http://purl.obolibrary.org/obo/UBERON_0007291 presumptive rhombomere 4 'presumptive rhombomere 4' SubClassOf http://purl.obolibrary.org/obo/UBERON_0006598 http://purl.obolibrary.org/obo/UBERON_0007290 presumptive rhombomere 3 'presumptive rhombomere 3' SubClassOf http://purl.obolibrary.org/obo/UBERON_0006598 http://www.orpha.net/ORDO/Orphanet_64280 Childhood absence epilepsy 'Childhood absence epilepsy' SubClassOf 'Childhood-onset epilepsy syndrome' 'Childhood absence epilepsy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000414 http://purl.obolibrary.org/obo/UBERON_0007288 presumptive forebrain midbrain boundary 'presumptive forebrain midbrain boundary' SubClassOf http://purl.obolibrary.org/obo/UBERON_0006598 http://purl.obolibrary.org/obo/UBERON_0007286 presumptive floor plate 'presumptive floor plate' SubClassOf http://purl.obolibrary.org/obo/UBERON_0006598 http://purl.obolibrary.org/obo/UBERON_0007285 presumptive paraxial mesoderm 'presumptive paraxial mesoderm' SubClassOf http://purl.obolibrary.org/obo/UBERON_0006598 http://purl.obolibrary.org/obo/UBERON_0007284 presumptive neural plate 'presumptive neural plate' SubClassOf http://purl.obolibrary.org/obo/UBERON_0016879 http://purl.obolibrary.org/obo/UBERON_0007283 presumptive shield 'presumptive shield' SubClassOf http://purl.obolibrary.org/obo/UBERON_0006598 http://purl.obolibrary.org/obo/UBERON_0007282 presumptive segmental plate 'presumptive segmental plate' SubClassOf 'develops_from' some 'paraxial mesoderm' 'presumptive segmental plate' SubClassOf http://purl.obolibrary.org/obo/UBERON_0006598 'presumptive segmental plate' SubClassOf 'develops_from' some 'trunk mesenchyme' http://purl.obolibrary.org/obo/CLO_0033570 AG08048 'AG08048' SubClassOf 'has_quality' some 'female' 'AG08048' SubClassOf 'derives_from' some ('fibroblast' and ('part_of' some ('arm' and ('part_of' some 'Homo sapiens')))) 'AG08048' SubClassOf 'cultured cell' http://purl.obolibrary.org/obo/HP_0000726 dementia 'dementia' SubClassOf 'inheres_in' some 'brain' http://www.ebi.ac.uk/efo/EFO_0007710 cognitive decline measurement 'cognitive decline measurement' SubClassOf 'is_about' some 'cognitive decline' http://www.ebi.ac.uk/efo/EFO_0007716 carotid artery measurement 'carotid artery measurement' SubClassOf 'is_about' some 'carotid artery' http://purl.obolibrary.org/obo/CLO_0033577 AG08046 'AG08046' SubClassOf 'derives_from' some ('fibroblast' and ('part_of' some ('arm' and ('part_of' some 'Homo sapiens')))) 'AG08046' SubClassOf 'cultured cell' 'AG08046' SubClassOf 'has_quality' some 'female' http://purl.obolibrary.org/obo/UBERON_0007297 presumptive pronephric mesoderm 'presumptive pronephric mesoderm' SubClassOf http://purl.obolibrary.org/obo/UBERON_0006598 http://purl.obolibrary.org/obo/UBERON_0007295 presumptive rhombomere 8 'presumptive rhombomere 8' SubClassOf http://purl.obolibrary.org/obo/UBERON_0006598 http://purl.obolibrary.org/obo/CHEBI_9349 sulfonyldimethane 'sulfonyldimethane' SubClassOf 'chemical entity' 'sulfonyldimethane' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/UBERON_0007294 presumptive rhombomere 7 'presumptive rhombomere 7' SubClassOf http://purl.obolibrary.org/obo/UBERON_0006598 http://purl.obolibrary.org/obo/UBERON_0007293 presumptive rhombomere 6 'presumptive rhombomere 6' SubClassOf http://purl.obolibrary.org/obo/UBERON_0006598 http://purl.obolibrary.org/obo/CLO_0021597 AG11364 'AG11364' SubClassOf 'cultured cell' 'AG11364' SubClassOf 'derives_from' some ('fibroblast' and ('part_of' some ('arm' and ('part_of' some 'Homo sapiens')))) 'AG11364' SubClassOf 'has_quality' some 'male' http://www.ebi.ac.uk/efo/EFO_0006411 G84 'G84' SubClassOf 'bearer_of' some 'glioma' 'G84' SubClassOf 'derives_from' some ('glial cell' and ('part_of' some ('brain' and ('part_of' some 'Homo sapiens')))) 'G84' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0007742 QRS amplitude 'QRS amplitude' SubClassOf 'is_about' some 'cardiovascular system' http://www.ebi.ac.uk/efo/EFO_0006410 G61 'G61' SubClassOf 'bearer_of' some 'glioma' 'G61' SubClassOf 'cultured cell' 'G61' SubClassOf 'derives_from' some ('glial cell' and ('part_of' some ('brain' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0007741 R wave amplitude 'R wave amplitude' SubClassOf 'is_about' some 'cardiovascular system' http://www.ebi.ac.uk/efo/EFO_0007740 S wave amplitude 'S wave amplitude' SubClassOf 'is_about' some 'cardiovascular system' http://www.ebi.ac.uk/efo/EFO_0006415 HCA-7 'HCA-7' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('colon' and ('part_of' some 'Homo sapiens')))) 'HCA-7' SubClassOf 'bearer_of' some 'colorectal cancer' 'HCA-7' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0007746 white matter lesion progression measurement 'white matter lesion progression measurement' SubClassOf 'is_about' some 'brain' http://www.ebi.ac.uk/efo/EFO_0006414 HC11 'HC11' SubClassOf 'has_quality' some 'female' 'HC11' SubClassOf 'cultured cell' 'HC11' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('mammary gland' and ('part_of' some 'Mus musculus')))) http://www.ebi.ac.uk/efo/EFO_0006413 obsolete_H322T 'obsolete_H322T' SubClassOf 'obsolete class' 'obsolete_H322T' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0007744 lung disease severity measurement 'lung disease severity measurement' SubClassOf 'is_about' some 'lung disease' http://www.ebi.ac.uk/efo/EFO_0006412 G96 'G96' SubClassOf 'bearer_of' some 'glioma' 'G96' SubClassOf 'cultured cell' 'G96' SubClassOf 'derives_from' some ('glial cell' and ('part_of' some ('brain' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0007743 influenza A severity measurement 'influenza A severity measurement' SubClassOf 'is_about' some 'influenza infection' http://www.ebi.ac.uk/efo/EFO_0006419 HCC0089 'HCC0089' SubClassOf 'has_quality' some 'female' 'HCC0089' SubClassOf 'cultured cell' 'HCC0089' SubClassOf 'bearer_of' some 'renal cell carcinoma' http://purl.obolibrary.org/obo/HP_0000733 Stereotypy 'Stereotypy' SubClassOf 'behavioral abnormality' 'Stereotypy' SubClassOf 'behavioral abnormality' http://www.ebi.ac.uk/efo/EFO_0006418 HCC0060 'HCC0060' SubClassOf 'bearer_of' some 'cystadenocarcinoma' 'HCC0060' SubClassOf 'cultured cell' 'HCC0060' SubClassOf 'has_quality' some 'female' http://www.ebi.ac.uk/efo/EFO_0007749 EL 'EL' SubClassOf 'has_quality' some 'male' 'EL' SubClassOf 'cultured cell' 'EL' SubClassOf 'derives_from' some ('BJ' and ('part_of' some ('prepuce of penis' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0006417 HCC0033 'HCC0033' SubClassOf 'has_quality' some 'male' 'HCC0033' SubClassOf 'bearer_of' some 'small cell lung carcinoma' 'HCC0033' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0007748 EH 'EH' SubClassOf 'has_quality' some 'male' 'EH' SubClassOf 'derives_from' some ('BJ' and ('part_of' some ('prepuce of penis' and ('part_of' some 'Homo sapiens')))) 'EH' SubClassOf 'cultured cell' http://purl.obolibrary.org/obo/HP_0000735 Impaired social interactions 'Impaired social interactions' SubClassOf 'behavioral abnormality' 'Impaired social interactions' SubClassOf 'behavioral abnormality' http://www.ebi.ac.uk/efo/EFO_0006416 HCC0012 'HCC0012' SubClassOf 'cultured cell' 'HCC0012' SubClassOf 'bearer_of' some 'renal cell carcinoma' 'HCC0012' SubClassOf 'has_quality' some 'female' http://www.orpha.net/ORDO/Orphanet_269215 Isolated Dandy-Walker malformation without hydrocephalus 'Isolated Dandy-Walker malformation without hydrocephalus' SubClassOf 'Dandy-Walker syndrome' http://purl.obolibrary.org/obo/CHEBI_8028 perphenazine 'perphenazine' SubClassOf 'has_role' some 'antiemetic' 'perphenazine' SubClassOf 'has_role' some 'dopaminergic antagonist' 'perphenazine' SubClassOf 'has_role' some 'phenothiazine antipsychotic drug' http://purl.obolibrary.org/obo/CHEBI_9352 sulindac 'sulindac' SubClassOf ('has_role' some 'non-steroidal anti-inflammatory drug') or ('has_role' some 'cyclooxygenase inhibitor') http://www.orpha.net/ORDO/Orphanet_269212 Isolated Dandy-Walker malformation with hydrocephalus 'Isolated Dandy-Walker malformation with hydrocephalus' SubClassOf 'Dandy-Walker syndrome' http://www.ebi.ac.uk/efo/EFO_0006400 G122 'G122' SubClassOf 'bearer_of' some 'glioma' 'G122' SubClassOf 'cultured cell' 'G122' SubClassOf 'derives_from' some ('glial cell' and ('part_of' some ('brain' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0006404 G141 'G141' SubClassOf 'derives_from' some ('glial cell' and ('part_of' some ('brain' and ('part_of' some 'Homo sapiens')))) 'G141' SubClassOf 'bearer_of' some 'glioma' 'G141' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0006403 G140 'G140' SubClassOf 'derives_from' some ('glial cell' and ('part_of' some ('brain' and ('part_of' some 'Homo sapiens')))) 'G140' SubClassOf 'cultured cell' 'G140' SubClassOf 'bearer_of' some 'glioma' http://www.ebi.ac.uk/efo/EFO_0006402 G130 'G130' SubClassOf 'bearer_of' some 'glioma' 'G130' SubClassOf 'derives_from' some ('glial cell' and ('part_of' some ('brain' and ('part_of' some 'Homo sapiens')))) 'G130' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0006401 G124 'G124' SubClassOf 'cultured cell' 'G124' SubClassOf 'derives_from' some ('glial cell' and ('part_of' some ('brain' and ('part_of' some 'Homo sapiens')))) 'G124' SubClassOf 'bearer_of' some 'glioma' http://www.ebi.ac.uk/efo/EFO_0006408 G44 'G44' SubClassOf 'derives_from' some ('glial cell' and ('part_of' some ('brain' and ('part_of' some 'Homo sapiens')))) 'G44' SubClassOf 'cultured cell' 'G44' SubClassOf 'bearer_of' some 'glioma' http://www.ebi.ac.uk/efo/EFO_0007739 left superior temporal gyrus thickness measurement 'left superior temporal gyrus thickness measurement' SubClassOf 'is_about' some 'superior temporal gyrus' http://www.ebi.ac.uk/efo/EFO_0006407 G28T 'G28T' SubClassOf 'cultured cell' 'G28T' SubClassOf 'derives_from' some ('glial cell' and ('part_of' some ('brain' and ('part_of' some 'Homo sapiens')))) 'G28T' SubClassOf 'bearer_of' some 'glioma' http://www.ebi.ac.uk/efo/EFO_0007738 cingulate cortex measurement 'cingulate cortex measurement' SubClassOf 'is_about' some 'cingulate cortex' http://www.ebi.ac.uk/efo/EFO_0006406 G22 'G22' SubClassOf 'derives_from' some ('glial cell' and ('part_of' some ('brain' and ('part_of' some 'Homo sapiens')))) 'G22' SubClassOf 'bearer_of' some 'glioma' 'G22' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0006405 G142 'G142' SubClassOf 'bearer_of' some 'glioma' 'G142' SubClassOf 'derives_from' some ('glial cell' and ('part_of' some ('brain' and ('part_of' some 'Homo sapiens')))) 'G142' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0006409 G59 'G59' SubClassOf 'bearer_of' some 'glioma' 'G59' SubClassOf 'cultured cell' 'G59' SubClassOf 'derives_from' some ('glial cell' and ('part_of' some ('brain' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0007760 eicosapentaenoic acid measurement 'eicosapentaenoic acid measurement' SubClassOf 'is_about' some 'icosapentaenoic acid' http://www.ebi.ac.uk/efo/EFO_0005101 obsolete_anther 'obsolete_anther' SubClassOf 'obsolete class' 'obsolete_anther' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0006433 HCC2688 'HCC2688' SubClassOf 'cancer cell line' 'HCC2688' SubClassOf 'breast adenocarcinoma cell line' 'HCC2688' SubClassOf 'cultured cell' 'HCC2688' SubClassOf 'has_quality' some 'female' 'HCC2688' SubClassOf 'bearer_of' some 'ductal adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0005102 obsolete_filament 'obsolete_filament' SubClassOf 'obsolete class' 'obsolete_filament' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0006432 HCC2302 'HCC2302' SubClassOf 'cultured cell' 'HCC2302' SubClassOf 'bearer_of' some 'lung adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0006431 HCC2279 'HCC2279' SubClassOf 'bearer_of' some 'lung adenocarcinoma' 'HCC2279' SubClassOf 'has_quality' some 'female' 'HCC2279' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0007762 gamma-linolenic acid measurement 'gamma-linolenic acid measurement' SubClassOf 'is_about' some 'gamma-linolenic acid' http://www.ebi.ac.uk/efo/EFO_0005100 obsolete_flag leaf 'obsolete_flag leaf' SubClassOf 'obsolete class' 'obsolete_flag leaf' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0006430 HCC2270 'HCC2270' SubClassOf 'cultured cell' 'HCC2270' SubClassOf 'has_quality' some 'female' 'HCC2270' SubClassOf 'bearer_of' some 'lung adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0007761 docosahexaenoic acid measurement 'docosahexaenoic acid measurement' SubClassOf 'is_about' some 'docosahexaenoic acid' http://www.ebi.ac.uk/efo/EFO_0005105 lipid or lipoprotein measurement 'lipid or lipoprotein measurement' EquivalentTo 'measurement' and (('is_about' some 'lipid') or ('is_about' some 'lipoprotein')) http://www.ebi.ac.uk/efo/EFO_0006437 HCC4017 'HCC4017' SubClassOf 'cultured cell' 'HCC4017' SubClassOf 'bearer_of' some 'non-small cell lung carcinoma' 'HCC4017' SubClassOf 'has_quality' some 'female' http://www.ebi.ac.uk/efo/EFO_0006436 HCC4011 'HCC4011' SubClassOf 'cultured cell' 'HCC4011' SubClassOf 'bearer_of' some 'lung adenocarcinoma' 'HCC4011' SubClassOf 'has_quality' some 'male' http://www.ebi.ac.uk/efo/EFO_0005103 obsolete_antennal disc 'obsolete_antennal disc' SubClassOf 'obsolete class' 'obsolete_antennal disc' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0006435 HCC2911 'HCC2911' SubClassOf 'cultured cell' 'HCC2911' SubClassOf 'bearer_of' some 'breast carcinoma' http://www.ebi.ac.uk/efo/EFO_0005104 obsolete_eye disc 'obsolete_eye disc' SubClassOf 'obsolete class' 'obsolete_eye disc' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0006434 HCC2885 'HCC2885' SubClassOf 'cultured cell' 'HCC2885' SubClassOf 'bearer_of' some 'non-small cell lung carcinoma' http://www.ebi.ac.uk/efo/EFO_0005107 obsolete_collective leaf structure 'obsolete_collective leaf structure' SubClassOf 'obsolete class' 'obsolete_collective leaf structure' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0006439 HOP62 'HOP62' SubClassOf 'has_quality' some 'female' 'HOP62' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) 'HOP62' SubClassOf 'cultured cell' 'HOP62' SubClassOf 'bearer_of' some 'non-small cell lung carcinoma' http://www.ebi.ac.uk/efo/EFO_0006438 HEp-2 'HEp-2' SubClassOf 'cultured cell' 'HEp-2' SubClassOf 'derives_from' some ('HeLa' and ('part_of' some ('uterine cervix' and ('part_of' some 'Homo sapiens')))) 'HEp-2' SubClassOf 'has_quality' some 'female' 'HEp-2' SubClassOf 'bearer_of' some 'cervical carcinoma' http://purl.obolibrary.org/obo/CHEBI_64489 1-myristoyl-sn-glycero-3-phosphocholine '1-myristoyl-sn-glycero-3-phosphocholine' SubClassOf 'phospholipid' '1-myristoyl-sn-glycero-3-phosphocholine' SubClassOf 'phospholipid' http://www.ebi.ac.uk/efo/EFO_0006422 HCC1011 'HCC1011' SubClassOf 'cultured cell' 'HCC1011' SubClassOf 'bearer_of' some 'cystic renal cell carcinoma' 'HCC1011' SubClassOf 'has_quality' some 'male' http://www.ebi.ac.uk/efo/EFO_0006421 HCC0630 'HCC0630' SubClassOf 'cultured cell' 'HCC0630' SubClassOf 'bearer_of' some 'ovarian carcinoma' 'HCC0630' SubClassOf 'has_quality' some 'female' http://www.ebi.ac.uk/efo/EFO_0007752 VCaP 'VCaP' SubClassOf 'has_quality' some 'male' 'VCaP' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('prostate gland' and ('part_of' some 'Homo sapiens')))) 'VCaP' SubClassOf 'cultured cell' 'VCaP' SubClassOf 'bearer_of' some 'cancer' http://www.ebi.ac.uk/efo/EFO_0006420 HCC0364 'HCC0364' SubClassOf 'has_quality' some 'male' 'HCC0364' SubClassOf 'cultured cell' 'HCC0364' SubClassOf 'bearer_of' some 'lung adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0007751 ES-E14TG2a.4 'ES-E14TG2a.4' SubClassOf 'has_quality' some 'male' 'ES-E14TG2a.4' SubClassOf 'derives_from' some ('ES-E14TG2a' and ('part_of' some ('blastocyst' and ('part_of' some '129 mouse strain')))) 'ES-E14TG2a.4' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0007750 ELR 'ELR' SubClassOf 'cultured cell' 'ELR' SubClassOf 'derives_from' some ('BJ' and ('part_of' some ('prepuce of penis' and ('part_of' some 'Homo sapiens')))) 'ELR' SubClassOf 'has_quality' some 'male' http://www.ebi.ac.uk/efo/EFO_0006426 HCC1482 'HCC1482' SubClassOf 'has_quality' some 'female' 'HCC1482' SubClassOf 'cultured cell' 'HCC1482' SubClassOf 'bearer_of' some 'uterine carcinoma' http://www.ebi.ac.uk/efo/EFO_0006425 HCC1319 'HCC1319' SubClassOf 'has_quality' some 'male' 'HCC1319' SubClassOf 'bearer_of' some 'renal cell carcinoma' 'HCC1319' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0006424 HCC1263 'HCC1263' SubClassOf 'cancer cell line' 'HCC1263' SubClassOf 'has_quality' some 'female' 'HCC1263' SubClassOf 'cultured cell' 'HCC1263' SubClassOf 'bearer_of' some 'colorectal adenocarcinoma' 'HCC1263' SubClassOf 'colorectal cancer cell line' http://www.ebi.ac.uk/efo/EFO_0006423 HCC1162 'HCC1162' SubClassOf 'cultured cell' 'HCC1162' SubClassOf 'has_quality' some 'female' 'HCC1162' SubClassOf 'bearer_of' some 'uterine carcinoma' http://www.ebi.ac.uk/efo/EFO_0006429 HCC1576 'HCC1576' SubClassOf 'cultured cell' 'HCC1576' SubClassOf 'bearer_of' some 'adrenal gland neoplasm' 'HCC1576' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0006428 HCC1534 'HCC1534' SubClassOf 'cultured cell' 'HCC1534' SubClassOf 'bearer_of' some 'lung adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0007759 alpha-linolenic acid measurement 'alpha-linolenic acid measurement' SubClassOf 'is_about' some 'alpha-linolenic acid' http://www.ebi.ac.uk/efo/EFO_0006427 HCC1493 'HCC1493' SubClassOf 'has_quality' some 'male' 'HCC1493' SubClassOf 'bearer_of' some 'breast adenocarcinoma' 'HCC1493' SubClassOf 'cultured cell' http://www.orpha.net/ORDO/Orphanet_412206 Primary failure of tooth eruption 'Primary failure of tooth eruption' SubClassOf 'Rare odontal or periodontal disorder' 'Primary failure of tooth eruption' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018488 'Primary failure of tooth eruption' SubClassOf 'Rare odontal or periodontal disorder' 'Primary failure of tooth eruption' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003847 http://purl.obolibrary.org/obo/CHEBI_9307 succinimide 'succinimide' SubClassOf 'amide' 'succinimide' SubClassOf 'amide' http://www.ebi.ac.uk/efo/EFO_0006451 M059K 'M059K' SubClassOf 'bearer_of' some 'glioma' 'M059K' SubClassOf 'has_quality' some 'male' 'M059K' SubClassOf 'derives_from' some ('fibroblast' and ('part_of' some ('brain' and ('part_of' some 'Homo sapiens')))) 'M059K' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0006450 L-363 'L-363' SubClassOf 'cancer cell line' 'L-363' SubClassOf 'has_quality' some 'female' 'L-363' SubClassOf 'bearer_of' some 'plasma cell leukemia' 'L-363' SubClassOf 'lymphoma or leukaemia cell line' 'L-363' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0007781 stressful life event measurement 'stressful life event measurement' SubClassOf 'is_about' some 'mental or behavioural disorder' http://www.ebi.ac.uk/efo/EFO_0006455 MN9D 'MN9D' SubClassOf 'derives_from' some ('dopaminergic neuron' and ('part_of' some ('nervous system' and ('part_of' some 'Mus musculus')))) 'MN9D' SubClassOf 'cultured cell' 'MN9D' SubClassOf 'bearer_of' some 'dopaminergic neuroblastoma' http://www.ebi.ac.uk/efo/EFO_0006454 MDA-MB-330 'MDA-MB-330' SubClassOf 'has_quality' some 'female' 'MDA-MB-330' SubClassOf 'cultured cell' 'MDA-MB-330' SubClassOf 'bearer_of' some 'breast carcinoma' 'MDA-MB-330' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('breast' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0006453 MCAS 'MCAS' SubClassOf 'bearer_of' some 'ovarian adenocarcinoma' 'MCAS' SubClassOf 'cultured cell' 'MCAS' SubClassOf 'has_quality' some 'female' http://www.ebi.ac.uk/efo/EFO_0006452 malignant epithelioid mesothelioma 'malignant epithelioid mesothelioma' SubClassOf 'mesothelioma' 'malignant epithelioid mesothelioma' SubClassOf 'Malignant Mesothelioma' http://www.ebi.ac.uk/efo/EFO_0007783 mosaic loss of chromosome Y measurement 'mosaic loss of chromosome Y measurement' SubClassOf 'is_about' some 'genome' 'mosaic loss of chromosome Y measurement' SubClassOf 'is_about' some 'Chromosomal anomaly' 'mosaic loss of chromosome Y measurement' SubClassOf 'is_about' some 'DNA' http://www.ebi.ac.uk/efo/EFO_0005127 cancer biomarker measurement 'cancer biomarker measurement' EquivalentTo 'measurement' and ('is_about' some (('cancer' or 'neoplasm') and ('has_role' some 'biomarker'))) http://www.ebi.ac.uk/efo/EFO_0006459 OV7 'OV7' SubClassOf 'cultured cell' 'OV7' SubClassOf 'bearer_of' some 'ovarian carcinoma' 'OV7' SubClassOf 'has_quality' some 'female' 'OV7' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('female gonad' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0005128 albumin:globulin ratio measurement 'albumin:globulin ratio measurement' SubClassOf 'protein measurement' 'albumin:globulin ratio measurement' SubClassOf 'protein measurement' 'albumin:globulin ratio measurement' SubClassOf 'is_about' some 'serum albumin' 'albumin:globulin ratio measurement' SubClassOf 'is_about' some 'heart' 'albumin:globulin ratio measurement' SubClassOf 'is_about' some 'liver disease' http://www.ebi.ac.uk/efo/EFO_0006458 OV56 'OV56' SubClassOf 'bearer_of' some 'ovarian carcinoma' 'OV56' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('female gonad' and ('part_of' some 'Homo sapiens')))) 'OV56' SubClassOf 'has_quality' some 'female' 'OV56' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0006457 MX-1 'MX-1' SubClassOf 'cultured cell' 'MX-1' SubClassOf 'bearer_of' some 'breast carcinoma' http://www.ebi.ac.uk/efo/EFO_0005126 arylesterase enzyme measurement 'arylesterase enzyme measurement' SubClassOf 'is_about' some 'cardiovascular disease' 'arylesterase enzyme measurement' SubClassOf 'is_about' some 'protein' 'arylesterase enzyme measurement' SubClassOf 'is_about' some 'enzyme' http://www.ebi.ac.uk/efo/EFO_0006456 MS751 'MS751' SubClassOf 'cultured cell' 'MS751' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('uterine cervix' and ('part_of' some 'Homo sapiens')))) 'MS751' SubClassOf 'bearer_of' some 'squamous cell carcinoma' 'MS751' SubClassOf 'has_quality' some 'female' http://www.ebi.ac.uk/efo/EFO_0007787 plasma betaine measurement 'plasma betaine measurement' SubClassOf 'is_about' some 'coronary artery disease' http://www.ebi.ac.uk/efo/EFO_0005129 hepatitis C induced liver cirrhosis 'hepatitis C induced liver cirrhosis' SubClassOf 'liver disease' 'hepatitis C induced liver cirrhosis' SubClassOf 'cirrhosis of liver' 'hepatitis C induced liver cirrhosis' SubClassOf http://purl.obolibrary.org/obo/RO_0004022 some 'hepatitis C infection' 'hepatitis C induced liver cirrhosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017341 'hepatitis C induced liver cirrhosis' EquivalentTo 'cirrhosis of liver' and (http://purl.obolibrary.org/obo/RO_0004022 some 'hepatitis C infection') http://www.ebi.ac.uk/efo/EFO_0006440 HOP92 'HOP92' SubClassOf 'bearer_of' some 'large cell lung carcinoma' 'HOP92' SubClassOf 'cultured cell' http://purl.obolibrary.org/obo/HP_0000707 abnormality of the nervous system 'abnormality of the nervous system' EquivalentTo 'has part' some ('quality' and ('has component' some 'abnormal') and ('inheres in part of' some 'nervous system')) http://www.ebi.ac.uk/efo/EFO_0006444 HT55 'HT55' SubClassOf 'bearer_of' some 'colorectal cancer' 'HT55' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('colon' and ('part_of' some 'Homo sapiens')))) 'HT55' SubClassOf 'cultured cell' http://purl.obolibrary.org/obo/HP_0000708 behavioral abnormality 'behavioral abnormality' EquivalentTo 'has part' some ('quality' and ('has component' some 'abnormal') and ('inheres in part of' some 'behavior')) http://www.ebi.ac.uk/efo/EFO_0006443 HT144 'HT144' SubClassOf 'cultured cell' 'HT144' SubClassOf 'bearer_of' some 'melanoma' 'HT144' SubClassOf 'has_quality' some 'male' 'HT144' SubClassOf 'derives_from' some ('fibroblast' and ('part_of' some ('zone of skin' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0005110 fatty acid measurement 'fatty acid measurement' SubClassOf 'is_about' some 'fatty acid' http://www.ebi.ac.uk/efo/EFO_0006442 HT115 'HT115' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('colon' and ('part_of' some 'Homo sapiens')))) 'HT115' SubClassOf 'cultured cell' 'HT115' SubClassOf 'bearer_of' some 'colorectal cancer' http://www.ebi.ac.uk/efo/EFO_0006441 Hs 683 'Hs 683' SubClassOf 'bearer_of' some 'glioma' 'Hs 683' SubClassOf 'derives_from' some ('fibroblast' and ('part_of' some ('brain' and ('part_of' some 'Homo sapiens')))) 'Hs 683' SubClassOf 'cultured cell' 'Hs 683' SubClassOf 'has_quality' some 'male' http://purl.obolibrary.org/obo/UBERON_0007281 presumptive midbrain hindbrain boundary 'presumptive midbrain hindbrain boundary' SubClassOf 'part_of' some 'embryonic structure' 'presumptive midbrain hindbrain boundary' SubClassOf 'develops_from' some 'nervous system' 'presumptive midbrain hindbrain boundary' SubClassOf 'develops_from' some 'primordium' 'presumptive midbrain hindbrain boundary' SubClassOf http://purl.obolibrary.org/obo/UBERON_0006598 'presumptive midbrain hindbrain boundary' SubClassOf 'develops_from' some 'neural rod' http://www.ebi.ac.uk/efo/EFO_0006448 JL-1 'JL-1' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('pleura' and ('part_of' some 'Homo sapiens')))) 'JL-1' SubClassOf 'bearer_of' some 'malignant epithelioid mesothelioma' 'JL-1' SubClassOf 'has_quality' some 'male' 'JL-1' SubClassOf 'cultured cell' 'JL-1' SubClassOf 'cancer cell line' http://www.ebi.ac.uk/efo/EFO_0005117 CCL5 measurement 'CCL5 measurement' SubClassOf 'measurement' and ('is_about' some 'inflammatory response') and ('is_about' some 'cytokine') http://www.ebi.ac.uk/efo/EFO_0006447 IPC-298 'IPC-298' SubClassOf 'has_quality' some 'female' 'IPC-298' SubClassOf 'cultured cell' 'IPC-298' SubClassOf 'bearer_of' some 'melanoma' http://www.ebi.ac.uk/efo/EFO_0006446 IM-95 'IM-95' SubClassOf 'has_quality' some 'male' 'IM-95' SubClassOf 'bearer_of' some 'gastric adenocarcinoma' 'IM-95' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('stomach' and ('part_of' some 'Homo sapiens')))) 'IM-95' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0005115 metabolic rate measurement 'metabolic rate measurement' SubClassOf 'is_about' some 'metabolic process' http://www.ebi.ac.uk/efo/EFO_0006445 huH-1 'huH-1' SubClassOf 'bearer_of' some 'hepatocellular carcinoma' 'huH-1' SubClassOf 'has_quality' some 'male' 'huH-1' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0006449 KARPAS-620 'KARPAS-620' SubClassOf 'cancer cell line' 'KARPAS-620' SubClassOf 'bearer_of' some 'plasma cell leukemia' 'KARPAS-620' SubClassOf 'lymphoma or leukaemia cell line' 'KARPAS-620' SubClassOf 'has_quality' some 'female' 'KARPAS-620' SubClassOf 'cultured cell' http://purl.obolibrary.org/obo/UBERON_0007277 presumptive hindbrain 'presumptive hindbrain' SubClassOf 'develops_from' some 'nervous system' 'presumptive hindbrain' SubClassOf 'develops_from' some 'neural rod' 'presumptive hindbrain' SubClassOf http://purl.obolibrary.org/obo/UBERON_0006598 'presumptive hindbrain' SubClassOf 'develops_from' some 'primordium' 'presumptive hindbrain' SubClassOf 'part_of' some 'embryo' http://purl.obolibrary.org/obo/CHEBI_77761 piperidin-2-one 'piperidin-2-one' SubClassOf 'amide' 'piperidin-2-one' SubClassOf 'amide' http://www.ebi.ac.uk/efo/EFO_0004171 cot filtration for single or low copy genomic DNA 'cot filtration for single or low copy genomic DNA' SubClassOf 'has_output' some 'DNA' http://www.orpha.net/ORDO/Orphanet_231013 Congenital trigeminal anesthesia 'Congenital trigeminal anesthesia' SubClassOf 'Genetic neuro-ophthalmological disease' 'Congenital trigeminal anesthesia' SubClassOf 'Genetic peripheral neuropathy' 'Congenital trigeminal anesthesia' SubClassOf 'Genetic neuro-ophthalmological disease' 'Congenital trigeminal anesthesia' SubClassOf 'Genetic peripheral neuropathy' http://www.ebi.ac.uk/efo/EFO_0004178 reduced representation preparation 'reduced representation preparation' SubClassOf 'part_of' some 'nucleic acid library construction protocol' http://www.ebi.ac.uk/efo/EFO_0004175 Methylation Spanning Linker Library (MSLL) processing 'Methylation Spanning Linker Library (MSLL) processing' SubClassOf 'part_of' some 'nucleic acid library construction protocol' http://purl.obolibrary.org/obo/CLO_0022604 AG11513 'AG11513' SubClassOf 'cultured cell' 'AG11513' SubClassOf 'has_quality' some 'female' 'AG11513' SubClassOf 'derives_from' some ('fibroblast' and ('part_of' some ('leg' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0004176 ChIP 'ChIP' SubClassOf 'part_of' some 'nucleic acid library construction protocol' http://www.ebi.ac.uk/efo/EFO_0004179 restriction digest 'restriction digest' SubClassOf 'part_of' some 'nucleic acid library construction protocol' http://purl.obolibrary.org/obo/CHEBI_106363 sphingomyelin d18:1/16:1 'sphingomyelin d18:1/16:1' SubClassOf 'sphingomyelin' 'sphingomyelin d18:1/16:1' SubClassOf 'sphingomyelin' http://purl.obolibrary.org/obo/BTO_0003264 HL-1 cell 'HL-1 cell' SubClassOf 'derives_from' some ('cell type' and ('part_of' some (('developmental stage' or 'organism part') and ('part_of' some 'Mus')))) http://www.ebi.ac.uk/efo/EFO_0004180 DNA selection through 5-methylcytidine antibody 'DNA selection through 5-methylcytidine antibody' SubClassOf 'part_of' some 'nucleic acid library construction protocol' http://www.ebi.ac.uk/efo/EFO_0004181 cap analysis gene expression 'cap analysis gene expression' SubClassOf 'part_of' some 'nucleic acid library construction protocol' http://www.ebi.ac.uk/efo/EFO_0004162 CTS (Concatenated Tag Sequencing) 'CTS (Concatenated Tag Sequencing)' SubClassOf 'has_participant' some 'sequencer' http://www.ebi.ac.uk/efo/EFO_0005494 obsolete_gonad 'obsolete_gonad' SubClassOf 'obsolete class' 'obsolete_gonad' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004161 finishing sequencing assay 'finishing sequencing assay' SubClassOf 'has_participant' some 'sequencer' http://www.ebi.ac.uk/efo/EFO_0004167 RAPD 'RAPD' SubClassOf 'part_of' some 'nucleic acid library construction protocol' http://www.ebi.ac.uk/efo/EFO_0004168 hypomethylated partial restriction digest 'hypomethylated partial restriction digest' SubClassOf 'part_of' some 'nucleic acid library construction protocol' http://www.ebi.ac.uk/efo/EFO_0005499 3-fold embryo Ce '3-fold embryo Ce' SubClassOf 'part_of' some 'embryo Ce' http://www.ebi.ac.uk/efo/EFO_0004169 methyl filtration 'methyl filtration' SubClassOf 'part_of' some 'nucleic acid library construction protocol' http://purl.obolibrary.org/obo/CHEBI_50161 motexafin gadolinium 'motexafin gadolinium' SubClassOf 'has_role' some 'antineoplastic agent' http://purl.obolibrary.org/obo/BTO_0003250 colonic epithelium cell line 'colonic epithelium cell line' EquivalentTo 'derives_from' some ('epithelial cell' and ('part_of' some ('colon' and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_0004196 viral human hepatitis infection 'viral human hepatitis infection' SubClassOf 'viral disease' 'viral human hepatitis infection' SubClassOf 'viral disease' 'viral human hepatitis infection' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043424 'viral human hepatitis infection' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021166 'viral human hepatitis infection' SubClassOf 'liver disease' http://www.ebi.ac.uk/efo/EFO_0004193 basal cell carcinoma 'basal cell carcinoma' SubClassOf 'skin carcinoma' http://www.ebi.ac.uk/efo/EFO_0004194 IGA glomerulonephritis 'IGA glomerulonephritis' SubClassOf 'kidney disease' 'IGA glomerulonephritis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002462 http://www.ebi.ac.uk/efo/EFO_0004197 hepatitis B infection 'hepatitis B infection' SubClassOf 'viral human hepatitis infection' 'hepatitis B infection' SubClassOf 'Hepadnaviridae infectious disease' 'hepatitis B infection' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024294 'hepatitis B infection' SubClassOf 'viral human hepatitis infection' http://www.orpha.net/ORDO/Orphanet_391389 Familial episodic pain syndrome with predominantly upper body involvement 'Familial episodic pain syndrome with predominantly upper body involvement' SubClassOf 'Familial episodic pain syndrome' 'Familial episodic pain syndrome with predominantly upper body involvement' SubClassOf 'Familial episodic pain syndrome' http://www.ebi.ac.uk/efo/EFO_0004198 skin neoplasm 'skin neoplasm' SubClassOf 'skin disease' 'skin neoplasm' SubClassOf 'neoplasm' 'skin neoplasm' SubClassOf 'skin disease' 'skin neoplasm' EquivalentTo 'neoplasm' and ('has_disease_location' some ('zone of skin' or ('part_of' some 'zone of skin'))) 'skin neoplasm' SubClassOf 'neoplasm' http://www.orpha.net/ORDO/Orphanet_231031 Erythema palmaris hereditarium 'Erythema palmaris hereditarium' SubClassOf 'Unclassified genetic skin disorder' 'Erythema palmaris hereditarium' SubClassOf 'Unclassified genetic skin disorder' http://purl.obolibrary.org/obo/CHEBI_50148 fenpropimorph 'fenpropimorph' SubClassOf 'has_role' some 'antifungal drug' http://www.orpha.net/ORDO/Orphanet_220386 Semilobar holoprosencephaly 'Semilobar holoprosencephaly' SubClassOf 'Holoprosencephaly' 'Semilobar holoprosencephaly' SubClassOf 'Holoprosencephaly' http://purl.obolibrary.org/obo/CHEBI_9753 troglitazone 'troglitazone' SubClassOf ('has_role' some 'antioxidant') or ('has_role' some 'hypoglycemic drug') or ('has_role' some 'vasodilator agent') or ('has_role' some 'anticonvulsant') http://www.orpha.net/ORDO/Orphanet_244310 RFT1-CDG 'RFT1-CDG' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'RFT1-CDG' SubClassOf 'Disorder of protein N-glycosylation' 'RFT1-CDG' SubClassOf 'Congenital disorder of glycosylation with deafness as a major feature' 'RFT1-CDG' SubClassOf 'Congenital disorder of glycosylation with hepatic involvement' 'RFT1-CDG' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' 'RFT1-CDG' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'RFT1-CDG' SubClassOf 'Disorder of protein N-glycosylation' 'RFT1-CDG' SubClassOf 'Congenital disorder of glycosylation with hepatic involvement' 'RFT1-CDG' SubClassOf 'Congenital disorder of glycosylation with deafness as a major feature' 'RFT1-CDG' SubClassOf 'congenital disorder of glycosylation type I' 'RFT1-CDG' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' http://www.orpha.net/ORDO/Orphanet_391397 Hereditary sensory and autonomic neuropathy type 7 'Hereditary sensory and autonomic neuropathy type 7' SubClassOf 'Autosomal dominant hereditary sensory and autonomic neuropathy' 'Hereditary sensory and autonomic neuropathy type 7' SubClassOf 'Autosomal dominant hereditary sensory and autonomic neuropathy' http://www.orpha.net/ORDO/Orphanet_391392 Familial episodic pain syndrome with predominantly lower limb involvement 'Familial episodic pain syndrome with predominantly lower limb involvement' SubClassOf 'Familial episodic pain syndrome' 'Familial episodic pain syndrome with predominantly lower limb involvement' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Familial episodic pain syndrome with predominantly lower limb involvement' SubClassOf 'Familial episodic pain syndrome' http://www.ebi.ac.uk/efo/EFO_0004185 enrichment of methylated DNA 'enrichment of methylated DNA' SubClassOf 'part_of' some 'nucleic acid library construction protocol' http://www.ebi.ac.uk/efo/EFO_0004182 Rapid Amplification of cDNA Ends 'Rapid Amplification of cDNA Ends' SubClassOf 'part_of' some 'nucleic acid library construction protocol' http://www.ebi.ac.uk/efo/EFO_0004183 size fractionation 'size fractionation' SubClassOf 'part_of' some 'nucleic acid library construction protocol' http://www.ebi.ac.uk/efo/EFO_0004188 hybrid selection of targets 'hybrid selection of targets' SubClassOf 'part_of' some 'nucleic acid library construction protocol' http://www.ebi.ac.uk/efo/EFO_0004189 DNA shearing 'DNA shearing' SubClassOf 'part_of' some 'nucleic acid library construction protocol' http://www.ebi.ac.uk/efo/EFO_0004186 Deoxyribonuclease digestion 'Deoxyribonuclease digestion' SubClassOf 'part_of' some 'nucleic acid library construction protocol' http://www.ebi.ac.uk/efo/EFO_0004187 cDNA library construction 'cDNA library construction' SubClassOf 'part_of' some 'nucleic acid library construction protocol' http://purl.obolibrary.org/obo/CHEBI_8435 prochlorperazine 'prochlorperazine' SubClassOf ('has_role' some 'antipsychotic drug') or ('has_role' some 'alpha-adrenergic antagonist') or ('has_role' some 'dopaminergic antagonist') or ('has_role' some 'cholinergic antagonist') or ('has_role' some 'antiemetic') http://www.ebi.ac.uk/efo/EFO_0004191 androgenetic alopecia 'androgenetic alopecia' SubClassOf 'Alopecia' 'androgenetic alopecia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021208 http://www.ebi.ac.uk/efo/EFO_0004192 alopecia areata 'alopecia areata' SubClassOf 'Alopecia' 'alopecia areata' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021034 'alopecia areata' SubClassOf 'Alopecia' http://www.ebi.ac.uk/efo/EFO_0004190 open-angle glaucoma 'open-angle glaucoma' SubClassOf 'glaucoma' 'open-angle glaucoma' SubClassOf 'glaucoma' http://purl.obolibrary.org/obo/CHEBI_37154 fumarate(1-) 'fumarate(1-)' SubClassOf 'chemical entity' 'fumarate(1-)' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_37156 maleate (-1) 'maleate (-1)' SubClassOf 'chemical entity' 'maleate (-1)' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_50131 5-aza-2'-deoxycytidine '5-aza-2'-deoxycytidine' SubClassOf 'has_role' some 'drug role' http://purl.obolibrary.org/obo/PO_0009109 ear meristem 'ear meristem' SubClassOf 'ear inflorescence' 'ear meristem' SubClassOf 'ear inflorescence' http://purl.obolibrary.org/obo/CHEBI_50114 estrogen 'estrogen' SubClassOf 'has_role' some 'sex hormone' http://purl.obolibrary.org/obo/CHEBI_50113 androgen 'androgen' SubClassOf 'has_role' some 'sex hormone' http://purl.obolibrary.org/obo/CLO_0019004 GM12264 'GM12264' SubClassOf 'cultured cell' 'GM12264' SubClassOf 'has_quality' some 'male' 'GM12264' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://www.orpha.net/ORDO/Orphanet_231040 Familial generalized lentiginosis 'Familial generalized lentiginosis' SubClassOf 'Genetic hyperpigmentation of the skin' 'Familial generalized lentiginosis' SubClassOf 'Genetic hyperpigmentation of the skin' http://www.orpha.net/ORDO/Orphanet_268337 Autosomal recessive intermediate Charcot-Marie-Tooth disease 'Autosomal recessive intermediate Charcot-Marie-Tooth disease' SubClassOf 'Hereditary motor and sensory neuropathy' 'Autosomal recessive intermediate Charcot-Marie-Tooth disease' SubClassOf 'Charcot-Marie-Tooth disease' 'Autosomal recessive intermediate Charcot-Marie-Tooth disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018778 'Autosomal recessive intermediate Charcot-Marie-Tooth disease' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/CHEBI_50122 rosiglitazone 'rosiglitazone' SubClassOf 'has_role' some 'insulin-sensitizing drug' http://purl.obolibrary.org/obo/UBERON_0007097 chordo neural hinge 'chordo neural hinge' SubClassOf 'part_of' some 'tail bud' 'chordo neural hinge' SubClassOf 'part_of' some 'embryonic structure' http://purl.obolibrary.org/obo/BTO_0004578 vascular smooth muscle cell 'vascular smooth muscle cell' SubClassOf 'cell type' and ('located_in' some 'musculature of body') http://www.orpha.net/ORDO/Orphanet_268322 Hereditary thrombocytopenia with normal platelets 'Hereditary thrombocytopenia with normal platelets' SubClassOf 'Rare hemorrhagic disorder due to a constitutional thrombocytopenia' 'Hereditary thrombocytopenia with normal platelets' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018796 http://purl.obolibrary.org/obo/CHEBI_26490 quinate 'quinate' SubClassOf 'chemical entity' 'quinate' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_209967 Episodic ataxia type 6 'Episodic ataxia type 6' SubClassOf 'Hereditary episodic ataxia' 'Episodic ataxia type 6' SubClassOf 'Hereditary episodic ataxia' http://www.orpha.net/ORDO/Orphanet_391327 X-linked calvarial hyperostosis 'X-linked calvarial hyperostosis' SubClassOf 'Primary bone dysplasia with increased bone density' 'X-linked calvarial hyperostosis' SubClassOf 'Primary bone dysplasia with increased bone density' http://www.orpha.net/ORDO/Orphanet_391330 X-linked osteoporosis with fractures 'X-linked osteoporosis with fractures' SubClassOf 'Primary bone dysplasia with decreased bone density' 'X-linked osteoporosis with fractures' SubClassOf 'Primary bone dysplasia with decreased bone density' http://www.orpha.net/ORDO/Orphanet_209978 Alternating hemiplegia 'Alternating hemiplegia' SubClassOf 'Rare genetic neurological disorder' 'Alternating hemiplegia' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_209973 Benign familial nocturnal alternating hemiplegia of childhood 'Benign familial nocturnal alternating hemiplegia of childhood' SubClassOf 'Alternating hemiplegia' 'Benign familial nocturnal alternating hemiplegia of childhood' SubClassOf 'Alternating hemiplegia' http://www.orpha.net/ORDO/Orphanet_52503 X-linked creatine transporter deficiency 'X-linked creatine transporter deficiency' SubClassOf 'Syndromic neurometabolic disease with X-linked intellectual disability' 'X-linked creatine transporter deficiency' SubClassOf 'Neurometabolic disease' 'X-linked creatine transporter deficiency' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'X-linked creatine transporter deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000456 'X-linked creatine transporter deficiency' SubClassOf 'Monogenic disease with epilepsy' 'X-linked creatine transporter deficiency' SubClassOf 'Syndromic neurometabolic disease with X-linked intellectual disability' 'X-linked creatine transporter deficiency' SubClassOf 'Developmental anomaly of metabolic origin' 'X-linked creatine transporter deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'X-linked creatine transporter deficiency' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_306759 Non progressive epilepsy and/or ataxia with myoclonus as a major feature 'Non progressive epilepsy and/or ataxia with myoclonus as a major feature' SubClassOf 'Epilepsy and/or ataxia with myoclonus as major feature' 'Non progressive epilepsy and/or ataxia with myoclonus as a major feature' SubClassOf 'Epilepsy and/or ataxia with myoclonus as major feature' http://purl.obolibrary.org/obo/CL_0000100 motor neuron 'motor neuron' SubClassOf 'part_of' some 'central nervous system' http://www.orpha.net/ORDO/Orphanet_209970 Episodic ataxia type 7 'Episodic ataxia type 7' SubClassOf 'Hereditary episodic ataxia' 'Episodic ataxia type 7' SubClassOf 'Hereditary episodic ataxia' http://www.orpha.net/ORDO/Orphanet_391343 Fatal post-viral neurodegenerative disorder 'Fatal post-viral neurodegenerative disorder' SubClassOf 'Genetic neurodegenerative disease' 'Fatal post-viral neurodegenerative disorder' SubClassOf 'Genetic neurodegenerative disease' 'Fatal post-viral neurodegenerative disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015144 http://www.orpha.net/ORDO/Orphanet_306750 Primary myoclonus 'Primary myoclonus' SubClassOf 'Rare genetic tremor disorder' http://www.orpha.net/ORDO/Orphanet_306756 Epilepsy and/or ataxia with myoclonus as major feature 'Epilepsy and/or ataxia with myoclonus as major feature' SubClassOf 'Rare genetic disease with myoclonus as a major feature' 'Epilepsy and/or ataxia with myoclonus as major feature' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017652 http://www.orpha.net/ORDO/Orphanet_391307 Severe intellectual disability-short stature-behavioral troubles-facial dysmorphism syndrome 'Severe intellectual disability-short stature-behavioral troubles-facial dysmorphism syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Severe intellectual disability-short stature-behavioral troubles-facial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Severe intellectual disability-short stature-behavioral troubles-facial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Severe intellectual disability-short stature-behavioral troubles-facial dysmorphism syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/CL_0000112 columnar neuron 'columnar neuron' SubClassOf 'located_in' some 'central nervous system' http://www.orpha.net/ORDO/Orphanet_208650 Cryopyrin-associated periodic syndrome 'Cryopyrin-associated periodic syndrome' SubClassOf 'Autoinflammatory syndrome with immune deficiency' 'Cryopyrin-associated periodic syndrome' SubClassOf 'Hereditary periodic fever syndrome' 'Cryopyrin-associated periodic syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017370 'Cryopyrin-associated periodic syndrome' SubClassOf 'Autoinflammatory syndrome with immune deficiency' 'Cryopyrin-associated periodic syndrome' SubClassOf 'Hereditary periodic fever syndrome' http://www.orpha.net/ORDO/Orphanet_209981 IRIDA syndrome 'IRIDA syndrome' SubClassOf 'Constitutional anemia due to iron metabolism disorder' 'IRIDA syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001245 'IRIDA syndrome' SubClassOf 'Constitutional anemia due to iron metabolism disorder' http://www.orpha.net/ORDO/Orphanet_391311 Susceptibility to viral and mycobacterial infections 'Susceptibility to viral and mycobacterial infections' SubClassOf 'Genetic susceptibility to infections due to particular pathogens' 'Susceptibility to viral and mycobacterial infections' SubClassOf 'Genetic susceptibility to infections due to particular pathogens' http://purl.obolibrary.org/obo/NCBITaxon_152263 Xanthomonas translucens pv. cerealis 'Xanthomonas translucens pv. cerealis' SubClassOf 'Xanthomonas' 'Xanthomonas translucens pv. cerealis' SubClassOf 'Xanthomonas' http://purl.obolibrary.org/obo/CHEBI_52717 bortezomib 'bortezomib' SubClassOf 'has_role' some 'antineoplastic agent' http://www.orpha.net/ORDO/Orphanet_391316 Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression 'Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression' SubClassOf 'Monogenic disease with epilepsy' 'Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression' SubClassOf 'Infantile epilepsy syndrome' 'Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression' SubClassOf 'Monogenic disease with epilepsy' 'Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression' SubClassOf 'Infantile epilepsy syndrome' http://purl.obolibrary.org/obo/CL_0000115 endothelial cell 'endothelial cell' SubClassOf 'located_in' some ('heart' or 'lymphatic vessel' or 'blood vessel') http://purl.obolibrary.org/obo/CHEBI_27780 detergent role 'detergent role' SubClassOf 'inheres_in' some 'chemical entity' http://purl.obolibrary.org/obo/CL_0000125 glial cell 'glial cell' SubClassOf 'located_in' some 'central nervous system' http://www.orpha.net/ORDO/Orphanet_391320 East Texas bleeding disorder 'East Texas bleeding disorder' SubClassOf 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' 'East Texas bleeding disorder' SubClassOf 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' http://www.orpha.net/ORDO/Orphanet_306734 Primary dystonia, DYT21 type 'Primary dystonia, DYT21 type' SubClassOf 'Generalized isolated dystonia' 'Primary dystonia, DYT21 type' SubClassOf 'Generalized isolated dystonia' http://purl.obolibrary.org/obo/CL_0000129 microglial cell 'microglial cell' SubClassOf 'located_in' some 'central nervous system' http://www.orpha.net/ORDO/Orphanet_51208 Formiminoglutamic aciduria 'Formiminoglutamic aciduria' SubClassOf 'Disorder of folate metabolism and transport' 'Formiminoglutamic aciduria' SubClassOf 'vitamin metabolic disorder' 'Formiminoglutamic aciduria' SubClassOf 'Constitutional megaloblastic anemia due to folate metabolism disorder' 'Formiminoglutamic aciduria' SubClassOf 'participates_in' some ('folic acid metabolic process' and ('has component' some 'abnormal')) 'Formiminoglutamic aciduria' SubClassOf 'Disorder of folate metabolism and transport' 'Formiminoglutamic aciduria' SubClassOf 'Constitutional megaloblastic anemia due to folate metabolism disorder' http://purl.obolibrary.org/obo/CL_0000128 oligodendrocyte 'oligodendrocyte' SubClassOf 'located_in' some 'central nervous system' http://purl.obolibrary.org/obo/CL_0000127 astrocyte 'astrocyte' SubClassOf 'located_in' some 'central nervous system' http://www.orpha.net/ORDO/Orphanet_306708 Frontotemporal neurodegeneration with movement disorder 'Frontotemporal neurodegeneration with movement disorder' SubClassOf 'Miscellaneous movement disorder due to genetic neurodegenerative disease' 'Frontotemporal neurodegeneration with movement disorder' SubClassOf 'Miscellaneous movement disorder due to genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_391376 Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome 'Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome' SubClassOf 'Neurometabolic disease' 'Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome' SubClassOf 'Disorder of asparagine metabolism' 'Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome' SubClassOf 'Neurometabolic disease' 'Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome' SubClassOf 'Disorder of asparagine metabolism' http://www.orpha.net/ORDO/Orphanet_391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome 'Intellectual disability-severe speech delay-mild dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Intellectual disability-severe speech delay-mild dysmorphism syndrome' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://www.orpha.net/ORDO/Orphanet_77828 Genetic obesity 'Genetic obesity' SubClassOf 'Inborn errors of metabolism' 'Genetic obesity' SubClassOf 'endocrine system disease' 'Genetic obesity' SubClassOf 'obesity' 'Genetic obesity' EquivalentTo 'obesity' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) 'Genetic obesity' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://purl.obolibrary.org/obo/CL_0000138 chondrocyte 'chondrocyte' SubClassOf 'located_in' some 'cartilage' http://www.orpha.net/ORDO/Orphanet_77830 Rare genetic odontologic disease 'Rare genetic odontologic disease' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Rare genetic odontologic disease' SubClassOf 'disease' http://www.orpha.net/ORDO/Orphanet_244305 Dominant hypophosphatemia with nephrolithiasis or osteoporosis 'Dominant hypophosphatemia with nephrolithiasis or osteoporosis' SubClassOf 'Genetic renal tubular disease' 'Dominant hypophosphatemia with nephrolithiasis or osteoporosis' SubClassOf 'Primary bone dysplasia with defective bone mineralization' 'Dominant hypophosphatemia with nephrolithiasis or osteoporosis' SubClassOf 'Genetic renal tubular disease' 'Dominant hypophosphatemia with nephrolithiasis or osteoporosis' SubClassOf 'Primary bone dysplasia with defective bone mineralization' 'Dominant hypophosphatemia with nephrolithiasis or osteoporosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 'Dominant hypophosphatemia with nephrolithiasis or osteoporosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019744 http://www.orpha.net/ORDO/Orphanet_306719 Neurodegenerative disease with chorea 'Neurodegenerative disease with chorea' SubClassOf 'neurodegenerative disease' 'Neurodegenerative disease with chorea' SubClassOf 'Genetic neurodegenerative disease' 'Neurodegenerative disease with chorea' SubClassOf 'Rare genetic tremor disorder' 'Neurodegenerative disease with chorea' SubClassOf 'realized_in' some ('disease course' and ('has part' some 'neurodegeneration')) 'Neurodegenerative disease with chorea' SubClassOf 'movement disorder' 'Neurodegenerative disease with chorea' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://www.orpha.net/ORDO/Orphanet_391384 Familial episodic pain syndrome 'Familial episodic pain syndrome' SubClassOf 'Genetic peripheral neuropathy' 'Familial episodic pain syndrome' SubClassOf 'Genetic peripheral neuropathy' http://www.orpha.net/ORDO/Orphanet_391381 Disorder of asparagine metabolism 'Disorder of asparagine metabolism' SubClassOf 'Disorder of amino acid and other organic acid metabolism' 'Disorder of asparagine metabolism' SubClassOf 'Disorder of amino acid and other organic acid metabolism' http://www.orpha.net/ORDO/Orphanet_233655 Rare genetic vascular disease 'Rare genetic vascular disease' SubClassOf 'has_disease_location' some 'blood vessel' http://www.orpha.net/ORDO/Orphanet_391348 Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome 'Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome' SubClassOf 'Mitochondrial oxidative phosphorylation disorder with no known mechanism' 'Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome' SubClassOf 'Neurometabolic disease' 'Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000732 'Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome' SubClassOf 'Mitochondrial oxidative phosphorylation disorder with no known mechanism' 'Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome' SubClassOf 'Neurometabolic disease' http://purl.obolibrary.org/obo/CL_0000148 melanocyte 'melanocyte' SubClassOf 'located_in' some 'epidermis' http://www.orpha.net/ORDO/Orphanet_391351 SURF1-related Charcot-Marie-Tooth disease type 4 'SURF1-related Charcot-Marie-Tooth disease type 4' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' 'SURF1-related Charcot-Marie-Tooth disease type 4' SubClassOf 'Charcot-Marie-Tooth disease type 4' 'SURF1-related Charcot-Marie-Tooth disease type 4' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'SURF1-related Charcot-Marie-Tooth disease type 4' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' 'SURF1-related Charcot-Marie-Tooth disease type 4' SubClassOf 'Charcot-Marie-Tooth disease type 4' http://purl.obolibrary.org/obo/CL_0000163 endocrine cell 'endocrine cell' SubClassOf 'part_of' some 'endocrine system' http://purl.obolibrary.org/obo/CL_0000162 parietal cell 'parietal cell' SubClassOf 'located_in' some 'stomach' http://purl.obolibrary.org/obo/CL_0000169 type B pancreatic cell 'type B pancreatic cell' SubClassOf 'part_of' some 'islet of Langerhans' http://dbpedia.org/resource/United_Kingdom United Kingdom 'United Kingdom' SubClassOf 'country' 'United Kingdom' SubClassOf 'country' http://purl.obolibrary.org/obo/CHEBI_27744 glyphosate 'glyphosate' SubClassOf 'has_role' some 'agrochemical role' http://www.orpha.net/ORDO/Orphanet_391366 Growth retardation-mild developmental delay-chronic hepatitis syndrome 'Growth retardation-mild developmental delay-chronic hepatitis syndrome' SubClassOf 'Genetic parenchymatous liver disease' 'Growth retardation-mild developmental delay-chronic hepatitis syndrome' SubClassOf 'Genetic parenchymatous liver disease' http://www.orpha.net/ORDO/Orphanet_317476 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia 'X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia' SubClassOf 'Combined T and B cell immunodeficiency' 'X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018814 http://purl.obolibrary.org/obo/CL_0000178 Leydig cell 'Leydig cell' SubClassOf 'cell type' 'Leydig cell' SubClassOf 'located_in' some 'testis' 'Leydig cell' SubClassOf 'part_of' some 'endocrine system' 'Leydig cell' SubClassOf 'animal reproductive system cell' http://www.orpha.net/ORDO/Orphanet_317473 Pancytopenia due to IKZF1 mutations 'Pancytopenia due to IKZF1 mutations' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018035 'Pancytopenia due to IKZF1 mutations' SubClassOf 'Common variable immunodeficiency' http://www.orpha.net/ORDO/Orphanet_329466 Autosomal dominant focal dystonia, DYT25 'Autosomal dominant focal dystonia, DYT25' SubClassOf 'Focal, segmental or multifocal dystonia' 'Autosomal dominant focal dystonia, DYT25' SubClassOf 'Focal, segmental or multifocal dystonia' 'Autosomal dominant focal dystonia, DYT25' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000478 http://purl.obolibrary.org/obo/CL_0000171 pancreatic A cell 'pancreatic A cell' SubClassOf 'located_in' some 'pancreas' http://www.orpha.net/ORDO/Orphanet_137871 Laminopathy type Decaudain-Vigouroux 'Laminopathy type Decaudain-Vigouroux' SubClassOf 'Rare insulin-resistance syndrome' 'Laminopathy type Decaudain-Vigouroux' SubClassOf 'Rare insulin-resistance syndrome' 'Laminopathy type Decaudain-Vigouroux' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001336 'Laminopathy type Decaudain-Vigouroux' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021187 http://purl.obolibrary.org/obo/CL_0000187 muscle cell 'muscle cell' SubClassOf 'located_in' some 'musculature of body' http://www.orpha.net/ORDO/Orphanet_137888 Auriculocondylar syndrome 'Auriculocondylar syndrome' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Auriculocondylar syndrome' SubClassOf 'Oculo-auriculo-vertebral spectrum' 'Auriculocondylar syndrome' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Auriculocondylar syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0007500 'Auriculocondylar syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 'Auriculocondylar syndrome' SubClassOf 'Oculo-auriculo-vertebral spectrum' http://purl.obolibrary.org/obo/CL_0000185 myoepithelial cell 'myoepithelial cell' SubClassOf 'develops_from' some 'mesodermal cell' http://www.orpha.net/ORDO/Orphanet_329457 Distal arthrogryposis type 5D 'Distal arthrogryposis type 5D' SubClassOf 'Distal arthrogryposis' 'Distal arthrogryposis type 5D' SubClassOf 'Distal arthrogryposis' http://purl.obolibrary.org/obo/CL_0000182 hepatocyte 'hepatocyte' SubClassOf 'located_in' some 'liver' http://www.orpha.net/ORDO/Orphanet_89841 Centripetalis recessive dystrophic epidermolysis bullosa 'Centripetalis recessive dystrophic epidermolysis bullosa' SubClassOf 'Dystrophic epidermolysis bullosa' 'Centripetalis recessive dystrophic epidermolysis bullosa' SubClassOf 'Dystrophic epidermolysis bullosa' http://www.orpha.net/ORDO/Orphanet_209902 Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency 'Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency' SubClassOf 'Disorder of bile acid synthesis' 'Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency' SubClassOf 'Disorder of bile acid synthesis' http://www.orpha.net/ORDO/Orphanet_89840 Junctional epidermolysis bullosa, non-Herlitz type 'Junctional epidermolysis bullosa, non-Herlitz type' SubClassOf 'Junctional epidermolysis bullosa' 'Junctional epidermolysis bullosa, Herlitz type' DisjointWith 'Junctional epidermolysis bullosa, non-Herlitz type' 'Junctional epidermolysis bullosa, non-Herlitz type' SubClassOf 'Junctional epidermolysis bullosa' http://www.orpha.net/ORDO/Orphanet_64542 Acrofacial dysostosis, Kennedy-Teebi type 'Acrofacial dysostosis, Kennedy-Teebi type' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Acrofacial dysostosis, Kennedy-Teebi type' SubClassOf 'Acrofacial dysostosis' 'Acrofacial dysostosis, Kennedy-Teebi type' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Acrofacial dysostosis, Kennedy-Teebi type' SubClassOf 'Acrofacial dysostosis' http://www.orpha.net/ORDO/Orphanet_89844 Lissencephaly syndrome, Norman-Roberts type 'Lissencephaly syndrome, Norman-Roberts type' SubClassOf 'Syndromic lymphedema' 'Lissencephaly syndrome, Norman-Roberts type' SubClassOf 'Microlissencephaly' 'Lissencephaly syndrome, Norman-Roberts type' SubClassOf 'Milroy disease' 'Lissencephaly syndrome, Norman-Roberts type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018722 'Lissencephaly syndrome, Norman-Roberts type' SubClassOf 'Syndromic lymphedema' 'Lissencephaly syndrome, Norman-Roberts type' SubClassOf 'Microlissencephaly' 'Lissencephaly syndrome, Norman-Roberts type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0009332 http://www.orpha.net/ORDO/Orphanet_89843 Dystrophic epidermolysis bullosa pruriginosa 'Dystrophic epidermolysis bullosa pruriginosa' SubClassOf 'Dystrophic epidermolysis bullosa' 'Dystrophic epidermolysis bullosa pruriginosa' SubClassOf 'Dystrophic epidermolysis bullosa' http://www.orpha.net/ORDO/Orphanet_89842 Recessive dystrophic epidermolysis bullosa-generalized other 'Recessive dystrophic epidermolysis bullosa-generalized other' SubClassOf 'Hereditary epidermolysis bullosa associated with ocular features' 'Recessive dystrophic epidermolysis bullosa-generalized other' SubClassOf 'Dystrophic epidermolysis bullosa' 'Recessive dystrophic epidermolysis bullosa-generalized other' SubClassOf 'Hereditary epidermolysis bullosa associated with ocular features' 'Recessive dystrophic epidermolysis bullosa-generalized other' SubClassOf 'Dystrophic epidermolysis bullosa' 'Recessive dystrophic epidermolysis bullosa-generalized other' SubClassOf 'Rare genetic neurological disorder' 'Recessive dystrophic epidermolysis bullosa-generalized other' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 http://www.orpha.net/ORDO/Orphanet_209908 Childhood apraxia of speech 'Childhood apraxia of speech' SubClassOf 'Rare genetic neurological disorder' 'Childhood apraxia of speech' SubClassOf 'Rare genetic neurological disorder' 'Childhood apraxia of speech' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016226 http://www.orpha.net/ORDO/Orphanet_209905 Brain-lung-thyroid syndrome 'Brain-lung-thyroid syndrome' SubClassOf 'Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies' 'Brain-lung-thyroid syndrome' SubClassOf 'Neurodegenerative disease with chorea' 'Brain-lung-thyroid syndrome' SubClassOf 'Syndromic hypothyroidism' 'Brain-lung-thyroid syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Brain-lung-thyroid syndrome' SubClassOf 'Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies' 'Brain-lung-thyroid syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Brain-lung-thyroid syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 'Brain-lung-thyroid syndrome' SubClassOf 'Neurodegenerative disease with chorea' 'Brain-lung-thyroid syndrome' SubClassOf 'Syndromic hypothyroidism' http://www.orpha.net/ORDO/Orphanet_137898 Leukoencephalopathy with brain stem and spinal cord involvement - high lactate 'Leukoencephalopathy with brain stem and spinal cord involvement - high lactate' SubClassOf 'Syndromic neurometabolic disease with non-X-linked intellectual disability' 'Leukoencephalopathy with brain stem and spinal cord involvement - high lactate' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Leukoencephalopathy with brain stem and spinal cord involvement - high lactate' SubClassOf 'Leukodystrophy' 'Leukoencephalopathy with brain stem and spinal cord involvement - high lactate' SubClassOf 'Syndromic neurometabolic disease with non-X-linked intellectual disability' 'Leukoencephalopathy with brain stem and spinal cord involvement - high lactate' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Leukoencephalopathy with brain stem and spinal cord involvement - high lactate' SubClassOf 'Leukodystrophy' 'Leukoencephalopathy with brain stem and spinal cord involvement - high lactate' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' http://www.orpha.net/ORDO/Orphanet_89838 KRT14-related epidermolysis bullosa simplex 'KRT14-related epidermolysis bullosa simplex' SubClassOf 'Basal epidermolysis bullosa simplex' 'KRT14-related epidermolysis bullosa simplex' SubClassOf 'Basal epidermolysis bullosa simplex' http://www.orpha.net/ORDO/Orphanet_137893 Male infertility due to large-headed multiflagellar polyploid spermatozoa 'Male infertility due to large-headed multiflagellar polyploid spermatozoa' SubClassOf 'teratozoospermia' 'Male infertility due to large-headed multiflagellar polyploid spermatozoa' SubClassOf 'Male infertility with teratozoospermia due to single gene mutation' 'Male infertility due to large-headed multiflagellar polyploid spermatozoa' SubClassOf 'realized_in' some ('disease course' and ('has_quality' some 'abnormal') and ('has_disease_location' some 'sperm')) 'Male infertility due to large-headed multiflagellar polyploid spermatozoa' SubClassOf 'Male infertility with teratozoospermia due to single gene mutation' 'Male infertility due to large-headed multiflagellar polyploid spermatozoa' SubClassOf 'azoospermia' http://www.orpha.net/ORDO/Orphanet_89839 Epidermolysis bullosa simplex superficialis 'Epidermolysis bullosa simplex superficialis' SubClassOf 'Suprabasal epidermolysis bullosa simplex' 'Epidermolysis bullosa simplex superficialis' SubClassOf 'Suprabasal epidermolysis bullosa simplex' http://www.orpha.net/ORDO/Orphanet_89832 Syndromic lymphedema 'Syndromic lymphedema' SubClassOf 'Lymphedema' 'Syndromic lymphedema' SubClassOf 'Lymphedema' 'Syndromic lymphedema' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Syndromic lymphedema' EquivalentTo 'Lymphedema' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021127) http://www.orpha.net/ORDO/Orphanet_99226 Monosomy X 'Monosomy X' SubClassOf 'Turner syndrome' 'Monosomy X' SubClassOf 'Turner syndrome' http://www.orpha.net/ORDO/Orphanet_99228 Mosaic monosomy X 'Mosaic monosomy X' SubClassOf 'Turner syndrome' 'Mosaic monosomy X' SubClassOf 'Turner syndrome' http://www.orpha.net/ORDO/Orphanet_63273 Distal myopathy with posterior leg and anterior hand involvement 'Distal myopathy with posterior leg and anterior hand involvement' SubClassOf 'Autosomal dominant distal myopathy' 'Distal myopathy with posterior leg and anterior hand involvement' SubClassOf 'Autosomal dominant distal myopathy' http://www.ebi.ac.uk/efo/EFO_0006712 OCI-M1 'OCI-M1' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('blood' and ('part_of' some 'Homo sapiens')))) 'OCI-M1' SubClassOf 'cultured cell' 'OCI-M1' SubClassOf 'bearer_of' some 'acute myeloid leukemia' http://www.ebi.ac.uk/efo/EFO_0006711 OCI-LY7 'OCI-LY7' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lymph node' and ('part_of' some 'Homo sapiens')))) 'OCI-LY7' SubClassOf 'has_quality' some 'male' 'OCI-LY7' SubClassOf 'bearer_of' some 'neoplasm of mature B-cells' 'OCI-LY7' SubClassOf 'cultured cell' 'OCI-LY7' SubClassOf 'lymphoma or leukaemia cell line' http://www.ebi.ac.uk/efo/EFO_0006710 OCI-LY3 'OCI-LY3' SubClassOf 'has_quality' some 'male' 'OCI-LY3' SubClassOf 'bearer_of' some 'neoplasm of mature B-cells' 'OCI-LY3' SubClassOf 'lymphoma or leukaemia cell line' 'OCI-LY3' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lymph node' and ('part_of' some 'Homo sapiens')))) 'OCI-LY3' SubClassOf 'cultured cell' 'OCI-LY3' SubClassOf 'derives_from' some 'bone marrow' http://www.ebi.ac.uk/efo/EFO_0006716 OPM-2 'OPM-2' SubClassOf 'cancer cell line' 'OPM-2' SubClassOf 'lymphoma or leukaemia cell line' 'OPM-2' SubClassOf 'has_quality' some 'female' 'OPM-2' SubClassOf 'cultured cell' 'OPM-2' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('blood' and ('part_of' some 'Homo sapiens')))) 'OPM-2' SubClassOf 'bearer_of' some 'multiple myeloma' http://www.ebi.ac.uk/efo/EFO_0006715 Okajima 'Okajima' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('stomach' and ('part_of' some 'Homo sapiens')))) 'Okajima' SubClassOf 'bearer_of' some 'gastric adenocarcinoma' 'Okajima' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0006714 OCUM-1 'OCUM-1' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('stomach' and ('part_of' some 'Homo sapiens')))) 'OCUM-1' SubClassOf 'bearer_of' some 'gastric adenocarcinoma' 'OCUM-1' SubClassOf 'cultured cell' http://www.orpha.net/ORDO/Orphanet_391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome 'Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome' SubClassOf 'Syndrome with microcephaly as major feature' 'Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome' SubClassOf 'Inborn errors of metabolism' 'Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome' SubClassOf 'Developmental anomaly of metabolic origin' 'Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015887 'Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome' SubClassOf 'Syndrome with microcephaly as major feature' http://www.ebi.ac.uk/efo/EFO_0006713 OCI-M2 'OCI-M2' SubClassOf 'bearer_of' some 'acute myeloid leukemia' 'OCI-M2' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('blood' and ('part_of' some 'Homo sapiens')))) 'OCI-M2' SubClassOf 'cultured cell' http://www.orpha.net/ORDO/Orphanet_137834 Frank-Ter Haar syndrome 'Frank-Ter Haar syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018233 http://www.ebi.ac.uk/efo/EFO_0006719 mesonephric adenocarcinoma 'mesonephric adenocarcinoma' SubClassOf 'adenocarcinoma' 'mesonephric adenocarcinoma' SubClassOf 'adenocarcinoma' 'mesonephric adenocarcinoma' SubClassOf 'has_disease_location' some 'female gonad' 'mesonephric adenocarcinoma' SubClassOf 'has_disease_location' some ('vagina' or 'cervix epithelium') http://www.ebi.ac.uk/efo/EFO_0006718 ovarian leiomyosarcoma 'ovarian leiomyosarcoma' SubClassOf 'leiomyosarcoma' 'ovarian leiomyosarcoma' SubClassOf 'ovarian neoplasm' 'ovarian leiomyosarcoma' SubClassOf 'leiomyosarcoma' 'ovarian leiomyosarcoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002225 'ovarian leiomyosarcoma' SubClassOf 'has_disease_location' some 'female gonad' 'ovarian leiomyosarcoma' SubClassOf 'has_disease_location' some ('female gonad' or ('part_of' some 'female gonad')) http://www.ebi.ac.uk/efo/EFO_0006717 OUMS-23 'OUMS-23' SubClassOf 'cancer cell line' 'OUMS-23' SubClassOf 'cultured cell' 'OUMS-23' SubClassOf 'bearer_of' some 'colorectal adenocarcinoma' 'OUMS-23' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('colon' and ('part_of' some 'Homo sapiens')))) 'OUMS-23' SubClassOf 'colorectal cancer cell line' 'OUMS-23' SubClassOf 'has_quality' some 'male' http://www.orpha.net/ORDO/Orphanet_137831 X-linked intellectual disability - cerebellar hypoplasia 'X-linked intellectual disability - cerebellar hypoplasia' SubClassOf 'Genetic syndrome with a cerebellar malformation as major feature' 'X-linked intellectual disability - cerebellar hypoplasia' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability - cerebellar hypoplasia' SubClassOf 'Genetic syndrome with a cerebellar malformation as major feature' 'X-linked intellectual disability - cerebellar hypoplasia' SubClassOf 'X-linked syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_317430 Combined immunodeficiency due to STIM1 deficiency 'Combined immunodeficiency due to STIM1 deficiency' SubClassOf 'Combined immunodeficiency due to CRAC channel dysfunction' 'Combined immunodeficiency due to STIM1 deficiency' SubClassOf 'Combined immunodeficiency due to CRAC channel dysfunction' http://www.orpha.net/ORDO/Orphanet_391417 HSD10 disease 'HSD10 disease' SubClassOf 'X-linked syndromic intellectual disability' 'HSD10 disease' SubClassOf 'Cerebral organic aciduria' 'HSD10 disease' SubClassOf 'Neurometabolic disease' 'HSD10 disease' SubClassOf 'Syndromic neurometabolic disease with X-linked intellectual disability' 'HSD10 disease' SubClassOf 'Cerebral organic aciduria' http://www.orpha.net/ORDO/Orphanet_209932 Cone dystrophy with supernormal rod response 'Cone dystrophy with supernormal rod response' SubClassOf 'Retinal dystrophy' 'Cone dystrophy with supernormal rod response' SubClassOf 'Progressive cone dystrophy' http://www.orpha.net/ORDO/Orphanet_391411 Atypical juvenile parkinsonism 'Atypical juvenile parkinsonism' SubClassOf 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' 'Atypical juvenile parkinsonism' SubClassOf 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' http://www.ebi.ac.uk/efo/EFO_0006701 NUGC-2 'NUGC-2' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('stomach' and ('part_of' some 'Homo sapiens')))) 'NUGC-2' SubClassOf 'has_quality' some 'female' 'NUGC-2' SubClassOf 'cultured cell' 'NUGC-2' SubClassOf 'bearer_of' some 'gastric adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0006700 NU-DUL-1 'NU-DUL-1' SubClassOf 'cancer cell line' 'NU-DUL-1' SubClassOf 'has_quality' some 'male' 'NU-DUL-1' SubClassOf 'lymphoma or leukaemia cell line' 'NU-DUL-1' SubClassOf 'cultured cell' 'NU-DUL-1' SubClassOf 'bearer_of' some 'neoplasm of mature B-cells' 'NU-DUL-1' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('blood' and ('part_of' some 'Homo sapiens')))) http://www.orpha.net/ORDO/Orphanet_75249 Familial isolated restrictive cardiomyopathy 'Familial isolated restrictive cardiomyopathy' SubClassOf 'Familial restrictive cardiomyopathy' 'Familial isolated restrictive cardiomyopathy' SubClassOf 'Familial restrictive cardiomyopathy' http://www.ebi.ac.uk/efo/EFO_0006705 OAW42 'OAW42' SubClassOf 'bearer_of' some 'serous cystadenofibroma' 'OAW42' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('female gonad' and ('part_of' some 'Homo sapiens')))) 'OAW42' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0006704 OAW28 'OAW28' SubClassOf 'bearer_of' some 'serous cystadenofibroma' 'OAW28' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('female gonad' and ('part_of' some 'Homo sapiens')))) 'OAW28' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0006703 NUGC-4 'NUGC-4' SubClassOf 'bearer_of' some 'gastric adenocarcinoma' 'NUGC-4' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('stomach' and ('part_of' some 'Homo sapiens')))) 'NUGC-4' SubClassOf 'has_quality' some 'female' 'NUGC-4' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0006702 NUGC-3 'NUGC-3' SubClassOf 'has_quality' some 'male' 'NUGC-3' SubClassOf 'cultured cell' 'NUGC-3' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('stomach' and ('part_of' some 'Homo sapiens')))) 'NUGC-3' SubClassOf 'bearer_of' some 'gastric adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0006709 OCI-LY19 'OCI-LY19' SubClassOf 'cancer cell line' 'OCI-LY19' SubClassOf 'has_quality' some 'female' 'OCI-LY19' SubClassOf 'lymphoma or leukaemia cell line' 'OCI-LY19' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lymph node' and ('part_of' some 'Homo sapiens')))) 'OCI-LY19' SubClassOf 'cultured cell' 'OCI-LY19' SubClassOf 'bearer_of' some 'neoplasm of mature B-cells' http://www.ebi.ac.uk/efo/EFO_0006708 OCI-LY10 'OCI-LY10' SubClassOf 'cancer cell line' 'OCI-LY10' SubClassOf 'bearer_of' some 'neoplasm of mature B-cells' 'OCI-LY10' SubClassOf 'lymphoma or leukaemia cell line' 'OCI-LY10' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lymph node' and ('part_of' some 'Homo sapiens')))) 'OCI-LY10' SubClassOf 'cultured cell' 'OCI-LY10' SubClassOf 'has_quality' some 'male' http://www.ebi.ac.uk/efo/EFO_0006707 OCI-AML5 'OCI-AML5' SubClassOf 'has_quality' some 'male' 'OCI-AML5' SubClassOf 'bearer_of' some 'acute myeloid leukemia' 'OCI-AML5' SubClassOf 'cultured cell' 'OCI-AML5' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('blood' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0006706 OCI-AML2 'OCI-AML2' SubClassOf 'bearer_of' some 'acute myeloid leukemia' 'OCI-AML2' SubClassOf 'has_quality' some 'male' 'OCI-AML2' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('blood' and ('part_of' some 'Homo sapiens')))) 'OCI-AML2' SubClassOf 'cultured cell' http://www.orpha.net/ORDO/Orphanet_209943 IRVAN syndrome 'IRVAN syndrome' SubClassOf 'Genetic central nervous system and retinal vascular disease' 'IRVAN syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020676 'IRVAN syndrome' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'IRVAN syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015937 http://www.orpha.net/ORDO/Orphanet_317419 T-B- severe combined immunodeficiency 'T-B- severe combined immunodeficiency' SubClassOf 'Severe combined immunodeficiency' 'T-B- severe combined immunodeficiency' SubClassOf 'Severe combined immunodeficiency' http://www.ebi.ac.uk/efo/EFO_0006730 PA-TU-8988S 'PA-TU-8988S' SubClassOf 'has_quality' some 'female' 'PA-TU-8988S' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('pancreas' and ('part_of' some 'Homo sapiens')))) 'PA-TU-8988S' SubClassOf 'cultured cell' 'PA-TU-8988S' SubClassOf 'bearer_of' some 'pancreatic carcinoma' http://www.ebi.ac.uk/efo/EFO_0006734 PK-45H 'PK-45H' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('pancreas' and ('part_of' some 'Homo sapiens')))) 'PK-45H' SubClassOf 'bearer_of' some 'pancreatic carcinoma' 'PK-45H' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0006733 PE/CA-PJ15 'PE/CA-PJ15' SubClassOf 'has_quality' some 'male' 'PE/CA-PJ15' SubClassOf 'bearer_of' some 'oral squamous cell carcinoma' 'PE/CA-PJ15' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('tongue' and ('part_of' some 'Homo sapiens')))) 'PE/CA-PJ15' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0005400 chemotherapy-induced alopecia 'chemotherapy-induced alopecia' SubClassOf 'head and neck disorder' 'chemotherapy-induced alopecia' SubClassOf 'Alopecia' 'chemotherapy-induced alopecia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0005042 'chemotherapy-induced alopecia' SubClassOf 'has_disease_location' some 'head' 'chemotherapy-induced alopecia' SubClassOf 'Alopecia' 'chemotherapy-induced alopecia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021034 http://www.ebi.ac.uk/efo/EFO_0006732 pancreatic adenosquamous carcinoma 'pancreatic adenosquamous carcinoma' SubClassOf 'pancreatic carcinoma' 'pancreatic adenosquamous carcinoma' SubClassOf 'squamous cell carcinoma' 'pancreatic adenosquamous carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018521 'pancreatic adenosquamous carcinoma' SubClassOf 'Adenosquamous Carcinoma' http://www.ebi.ac.uk/efo/EFO_0006731 obsolete_PA-TU-8988T 'obsolete_PA-TU-8988T' SubClassOf 'obsolete class' 'obsolete_PA-TU-8988T' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_293284 Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria 'Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria' SubClassOf 'Phenylketonuria' 'Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria' SubClassOf 'Phenylketonuria' http://www.ebi.ac.uk/efo/EFO_0005406 colorectal adenoma 'colorectal adenoma' SubClassOf 'colorectal neoplasm' 'colorectal adenoma' SubClassOf 'digestive system disease' 'colorectal adenoma' SubClassOf 'colorectal neoplasm' 'colorectal adenoma' SubClassOf 'Digestive System Adenoma' 'colorectal adenoma' SubClassOf 'has_disease_location' some ('rectum' or 'colon') http://www.ebi.ac.uk/efo/EFO_0006738 plasmacytoma 'plasmacytoma' SubClassOf 'plasma cell neoplasm' 'plasmacytoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016180 'plasmacytoma' SubClassOf 'plasma cell neoplasm' http://www.ebi.ac.uk/efo/EFO_0005407 psychosis 'psychosis' SubClassOf 'mental or behavioural disorder' 'psychosis' SubClassOf 'mental or behavioural disorder' 'psychosis' SubClassOf 'cognitive disorder' http://www.ebi.ac.uk/efo/EFO_0006737 PK-8 'PK-8' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('pancreas' and ('part_of' some 'Homo sapiens')))) 'PK-8' SubClassOf 'bearer_of' some 'pancreatic carcinoma' 'PK-8' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0006736 PK-59 'PK-59' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('pancreas' and ('part_of' some 'Homo sapiens')))) 'PK-59' SubClassOf 'bearer_of' some 'pancreatic carcinoma' 'PK-59' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0006735 PK-45P 'PK-45P' SubClassOf 'bearer_of' some 'pancreatic carcinoma' 'PK-45P' SubClassOf 'cultured cell' 'PK-45P' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('pancreas' and ('part_of' some 'Homo sapiens')))) http://www.orpha.net/ORDO/Orphanet_317416 T-B+ severe combined immunodeficiency 'T-B+ severe combined immunodeficiency' SubClassOf 'Severe combined immunodeficiency' 'T-B+ severe combined immunodeficiency' SubClassOf 'Severe combined immunodeficiency' http://www.ebi.ac.uk/efo/EFO_0006739 PSN1 'PSN1' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('pancreas' and ('part_of' some 'Homo sapiens')))) 'PSN1' SubClassOf 'cultured cell' 'PSN1' SubClassOf 'bearer_of' some 'pancreatic carcinoma' http://www.orpha.net/ORDO/Orphanet_306762 Progressive epilepsy and/or ataxia with myoclonus as a major feature 'Progressive epilepsy and/or ataxia with myoclonus as a major feature' SubClassOf 'Epilepsy and/or ataxia with myoclonus as major feature' 'Progressive epilepsy and/or ataxia with myoclonus as a major feature' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100036 'Progressive epilepsy and/or ataxia with myoclonus as a major feature' SubClassOf 'Epilepsy and/or ataxia with myoclonus as major feature' http://www.orpha.net/ORDO/Orphanet_306768 Rare paroxysmal movement disorder 'Rare paroxysmal movement disorder' SubClassOf 'movement disorder' 'Rare paroxysmal movement disorder' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Rare paroxysmal movement disorder' SubClassOf 'Rare genetic tremor disorder' http://www.orpha.net/ORDO/Orphanet_306765 Motor stereotypies 'Motor stereotypies' SubClassOf 'Rare genetic tremor disorder' 'Motor stereotypies' SubClassOf 'movement disorder' 'Motor stereotypies' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://www.orpha.net/ORDO/Orphanet_317428 Combined immunodeficiency due to ORAI1 deficiency 'Combined immunodeficiency due to ORAI1 deficiency' SubClassOf 'Combined immunodeficiency due to CRAC channel dysfunction' 'Combined immunodeficiency due to ORAI1 deficiency' SubClassOf 'Combined immunodeficiency due to CRAC channel dysfunction' http://www.orpha.net/ORDO/Orphanet_209951 Autosomal recessive spastic paraplegia type 18 'Autosomal recessive spastic paraplegia type 18' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Autosomal recessive spastic paraplegia type 18' SubClassOf 'Autosomal recessive complex spastic paraplegia' http://www.ebi.ac.uk/efo/EFO_0006723 OVCA433 'OVCA433' SubClassOf 'cultured cell' 'OVCA433' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('female gonad' and ('part_of' some 'Homo sapiens')))) 'OVCA433' SubClassOf 'has_quality' some 'female' 'OVCA433' SubClassOf 'bearer_of' some 'ovarian carcinoma' http://www.ebi.ac.uk/efo/EFO_0006722 OVCA432 'OVCA432' SubClassOf 'bearer_of' some 'ovarian carcinoma' 'OVCA432' SubClassOf 'has_quality' some 'female' 'OVCA432' SubClassOf 'cultured cell' 'OVCA432' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('female gonad' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0006721 OVCA429 'OVCA429' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('female gonad' and ('part_of' some 'Homo sapiens')))) 'OVCA429' SubClassOf 'cultured cell' 'OVCA429' SubClassOf 'bearer_of' some 'ovarian adenocarcinoma' 'OVCA429' SubClassOf 'has_quality' some 'female' http://www.orpha.net/ORDO/Orphanet_63260 Craniorachischisis 'Craniorachischisis' SubClassOf 'Neural tube closure defect' 'Craniorachischisis' SubClassOf 'Neural tube closure defect' http://www.ebi.ac.uk/efo/EFO_0006720 OVCA420 'OVCA420' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('female gonad' and ('part_of' some 'Homo sapiens')))) 'OVCA420' SubClassOf 'has_quality' some 'female' 'OVCA420' SubClassOf 'bearer_of' some 'ovarian carcinoma' 'OVCA420' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0006727 OVSAHO 'OVSAHO' SubClassOf 'bearer_of' some 'ovarian adenocarcinoma' 'OVSAHO' SubClassOf 'cultured cell' 'OVSAHO' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('female gonad' and ('part_of' some 'Homo sapiens')))) 'OVSAHO' SubClassOf 'has_quality' some 'female' http://www.ebi.ac.uk/efo/EFO_0006726 OVMANA 'OVMANA' SubClassOf 'has_quality' some 'female' 'OVMANA' SubClassOf 'bearer_of' some 'ovarian adenocarcinoma' 'OVMANA' SubClassOf 'cultured cell' 'OVMANA' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('female gonad' and ('part_of' some 'Homo sapiens')))) http://www.orpha.net/ORDO/Orphanet_317425 Severe combined immunodeficiency due to DNA-PKcs deficiency 'Severe combined immunodeficiency due to DNA-PKcs deficiency' SubClassOf 'T-B- severe combined immunodeficiency' 'Severe combined immunodeficiency due to DNA-PKcs deficiency' SubClassOf 'T-B- severe combined immunodeficiency' http://www.ebi.ac.uk/efo/EFO_0006725 OVKATE 'OVKATE' SubClassOf 'cultured cell' 'OVKATE' SubClassOf 'bearer_of' some 'ovarian adenocarcinoma' 'OVKATE' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('female gonad' and ('part_of' some 'Homo sapiens')))) 'OVKATE' SubClassOf 'has_quality' some 'female' http://www.ebi.ac.uk/efo/EFO_0006724 OVISE 'OVISE' SubClassOf 'bearer_of' some 'ovarian carcinoma' 'OVISE' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('female gonad' and ('part_of' some 'Homo sapiens')))) 'OVISE' SubClassOf 'has_quality' some 'female' 'OVISE' SubClassOf 'cultured cell' http://purl.obolibrary.org/obo/UBERON_0010710 pectoral fin skeleton 'pectoral fin skeleton' SubClassOf 'part_of' some 'appendicular skeleton' 'pectoral fin skeleton' SubClassOf 'develops_from' some 'mesoderm' 'pectoral fin skeleton' SubClassOf 'part_of' some 'appendage' http://www.orpha.net/ORDO/Orphanet_137867 Madras motor neuron disease 'Madras motor neuron disease' SubClassOf 'motor neuron disease' http://www.orpha.net/ORDO/Orphanet_75233 Wolman disease 'Wolman disease' SubClassOf 'Lysosomal acid lipase deficiency' 'Wolman disease' SubClassOf 'Lysosomal acid lipase deficiency' http://www.ebi.ac.uk/efo/EFO_0006729 PA-TU-8902 'PA-TU-8902' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('pancreas' and ('part_of' some 'Homo sapiens')))) 'PA-TU-8902' SubClassOf 'bearer_of' some 'pancreatic carcinoma' 'PA-TU-8902' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0006728 OVTOKO 'OVTOKO' SubClassOf 'bearer_of' some 'ovarian adenocarcinoma' 'OVTOKO' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('female gonad' and ('part_of' some 'Homo sapiens')))) 'OVTOKO' SubClassOf 'cultured cell' 'OVTOKO' SubClassOf 'has_quality' some 'female' http://www.orpha.net/ORDO/Orphanet_75234 Cholesteryl ester storage disease 'Cholesteryl ester storage disease' SubClassOf 'Lysosomal acid lipase deficiency' 'Cholesteryl ester storage disease' SubClassOf 'Lysosomal acid lipase deficiency' http://www.orpha.net/ORDO/Orphanet_63259 Iniencephaly 'Iniencephaly' SubClassOf 'Neural tube closure defect' 'Iniencephaly' SubClassOf 'Neural tube closure defect' http://www.orpha.net/ORDO/Orphanet_281238 Autosomal ichthyosis syndrome with prominent neurologics signs 'Autosomal ichthyosis syndrome with prominent neurologics signs' SubClassOf 'Autosomal ichthyosis syndrome' 'Autosomal ichthyosis syndrome with prominent neurologics signs' SubClassOf 'Autosomal ichthyosis syndrome' http://www.ebi.ac.uk/efo/EFO_0005420 grey matter volume measurement 'grey matter volume measurement' SubClassOf 'is_about' some 'volume' 'grey matter volume measurement' SubClassOf 'is_about' some 'mental or behavioural disorder' 'grey matter volume measurement' SubClassOf 'is_about' some 'brain' http://www.ebi.ac.uk/efo/EFO_0006752 SK-CO-1 'SK-CO-1' SubClassOf 'cancer cell line' 'SK-CO-1' SubClassOf 'has_quality' some 'male' 'SK-CO-1' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('colon' and ('part_of' some 'Homo sapiens')))) 'SK-CO-1' SubClassOf 'colorectal cancer cell line' 'SK-CO-1' SubClassOf 'cultured cell' 'SK-CO-1' SubClassOf 'bearer_of' some 'colorectal adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0005421 serum homoarginine measurement 'serum homoarginine measurement' SubClassOf ('is_about' some 'cardiovascular disease') or ('is_about' some 'liver disease') or ('is_about' some 'kidney disease') http://www.ebi.ac.uk/efo/EFO_0006751 SIG-M5 'SIG-M5' SubClassOf 'cultured cell' 'SIG-M5' SubClassOf 'bearer_of' some 'acute myeloid leukemia' 'SIG-M5' SubClassOf 'has_quality' some 'male' 'SIG-M5' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('blood' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0006750 SCLC-22H 'SCLC-22H' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) 'SCLC-22H' SubClassOf 'cultured cell' 'SCLC-22H' SubClassOf 'bearer_of' some 'small cell lung carcinoma' 'SCLC-22H' SubClassOf 'has_quality' some 'male' http://www.ebi.ac.uk/efo/EFO_0005424 dyslexia 'dyslexia' SubClassOf 'mental or behavioural disorder' 'dyslexia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001697 http://www.ebi.ac.uk/efo/EFO_0006756 SNU-601 'SNU-601' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('stomach' and ('part_of' some 'Homo sapiens')))) 'SNU-601' SubClassOf 'has_quality' some 'male' 'SNU-601' SubClassOf 'bearer_of' some 'gastric carcinoma' 'SNU-601' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0005425 language impairment 'language impairment' SubClassOf 'mental or behavioural disorder' 'language impairment' SubClassOf 'Rare genetic neurological disorder' 'language impairment' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004750 'language impairment' SubClassOf 'specific language impairment' http://www.ebi.ac.uk/efo/EFO_0006755 SNU-484 'SNU-484' SubClassOf 'has_quality' some 'male' 'SNU-484' SubClassOf 'cultured cell' 'SNU-484' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('stomach' and ('part_of' some 'Homo sapiens')))) 'SNU-484' SubClassOf 'bearer_of' some 'gastric carcinoma' http://www.ebi.ac.uk/efo/EFO_0006754 SNU-216 'SNU-216' SubClassOf 'bearer_of' some 'gastric carcinoma' 'SNU-216' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('stomach' and ('part_of' some 'Homo sapiens')))) 'SNU-216' SubClassOf 'has_quality' some 'female' 'SNU-216' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0005423 adolescent idiopathic scoliosis 'adolescent idiopathic scoliosis' SubClassOf 'scoliosis' 'adolescent idiopathic scoliosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000726 http://www.ebi.ac.uk/efo/EFO_0006753 SKM-1 'SKM-1' SubClassOf 'cultured cell' 'SKM-1' SubClassOf 'has_quality' some 'male' 'SKM-1' SubClassOf 'bearer_of' some 'acute myeloid leukemia' 'SKM-1' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('blood' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0006759 SNU-668 'SNU-668' SubClassOf 'has_quality' some 'male' 'SNU-668' SubClassOf 'bearer_of' some 'gastric carcinoma' 'SNU-668' SubClassOf 'cultured cell' 'SNU-668' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('stomach' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0005426 autism spectrum disorder symptom 'autism spectrum disorder symptom' SubClassOf 'is_about' some 'autism spectrum disorder' 'autism spectrum disorder symptom' SubClassOf 'mental or behavioural disorder biomarker' http://www.ebi.ac.uk/efo/EFO_0006758 SNU-638 'SNU-638' SubClassOf 'bearer_of' some 'gastric carcinoma' 'SNU-638' SubClassOf 'has_quality' some 'male' 'SNU-638' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('stomach' and ('part_of' some 'Homo sapiens')))) 'SNU-638' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0006757 SNU-620 'SNU-620' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('stomach' and ('part_of' some 'Homo sapiens')))) 'SNU-620' SubClassOf 'has_quality' some 'female' 'SNU-620' SubClassOf 'cultured cell' 'SNU-620' SubClassOf 'bearer_of' some 'gastric carcinoma' http://www.orpha.net/ORDO/Orphanet_281241 Autosomal ichthyosis syndrome with fatal disease course 'Autosomal ichthyosis syndrome with fatal disease course' SubClassOf 'Autosomal ichthyosis syndrome' 'Autosomal ichthyosis syndrome with fatal disease course' SubClassOf 'Autosomal ichthyosis syndrome' http://www.orpha.net/ORDO/Orphanet_268261 21q22.13q22.2 microdeletion syndrome '21q22.13q22.2 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 21' '21q22.13q22.2 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0013578 '21q22.13q22.2 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 21' http://www.orpha.net/ORDO/Orphanet_281244 Autosomal ichthyosis syndrome with other associated signs 'Autosomal ichthyosis syndrome with other associated signs' SubClassOf 'Autosomal ichthyosis syndrome' 'Autosomal ichthyosis syndrome with other associated signs' SubClassOf 'Autosomal ichthyosis syndrome' http://www.ebi.ac.uk/efo/EFO_0006741 QGP-1 'QGP-1' SubClassOf 'cultured cell' 'QGP-1' SubClassOf 'bearer_of' some 'pancreatic carcinoma' 'QGP-1' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('pancreas' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0005410 tooth agenesis 'tooth agenesis' SubClassOf 'head and neck disorder' 'tooth agenesis' SubClassOf 'tooth disease' 'tooth agenesis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018488 'tooth agenesis' SubClassOf 'Rare odontal or periodontal disorder' http://www.ebi.ac.uk/efo/EFO_0006740 pulmonary mucoepidermoid carcinoma 'pulmonary mucoepidermoid carcinoma' SubClassOf 'lung carcinoma' 'pulmonary mucoepidermoid carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0027772 'pulmonary mucoepidermoid carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003036 http://www.ebi.ac.uk/efo/EFO_0005413 joint damage measurement 'joint damage measurement' SubClassOf 'is_about' some 'rheumatoid arthritis' http://www.ebi.ac.uk/efo/EFO_0006745 RKN 'RKN' SubClassOf 'has_quality' some 'female' 'RKN' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('female gonad' and ('part_of' some 'Homo sapiens')))) 'RKN' SubClassOf 'bearer_of' some 'ovarian leiomyosarcoma' 'RKN' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0006744 RERF-LC-OK 'RERF-LC-OK' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) 'RERF-LC-OK' SubClassOf 'bearer_of' some 'lung adenocarcinoma' 'RERF-LC-OK' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0005411 schizoaffective disorder 'schizoaffective disorder' SubClassOf 'mental or behavioural disorder' 'schizoaffective disorder' SubClassOf 'psychosis' http://www.ebi.ac.uk/efo/EFO_0006743 RERF-GC-1B 'RERF-GC-1B' SubClassOf 'bearer_of' some 'gastric carcinoma' 'RERF-GC-1B' SubClassOf 'has_quality' some 'male' 'RERF-GC-1B' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('stomach' and ('part_of' some 'Homo sapiens')))) 'RERF-GC-1B' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0005412 functional impairment measurement 'functional impairment measurement' SubClassOf 'is_about' some 'mental or behavioural disorder' http://www.ebi.ac.uk/efo/EFO_0006742 RC-K8 'RC-K8' SubClassOf 'cancer cell line' 'RC-K8' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('blood' and ('part_of' some 'Homo sapiens')))) 'RC-K8' SubClassOf 'lymphoma or leukaemia cell line' 'RC-K8' SubClassOf 'cultured cell' 'RC-K8' SubClassOf 'bearer_of' some 'neoplasm of mature B-cells' http://www.ebi.ac.uk/efo/EFO_0006749 SCLC-21H 'SCLC-21H' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) 'SCLC-21H' SubClassOf 'bearer_of' some 'small cell lung carcinoma' 'SCLC-21H' SubClassOf 'cultured cell' 'SCLC-21H' SubClassOf 'has_quality' some 'male' http://www.ebi.ac.uk/efo/EFO_0006748 RTS3b 'RTS3b' SubClassOf 'cultured cell' 'RTS3b' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0005415 serum alpha-1-antitrypsin measurement 'serum alpha-1-antitrypsin measurement' SubClassOf ('is_about' some 'emphysema') or ('is_about' some 'liver disease') 'serum alpha-1-antitrypsin measurement' SubClassOf 'is_about' some 'protein' http://www.ebi.ac.uk/efo/EFO_0006747 RMUG-S 'RMUG-S' SubClassOf 'cultured cell' 'RMUG-S' SubClassOf 'bearer_of' some 'ovarian adenocarcinoma' 'RMUG-S' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('female gonad' and ('part_of' some 'Homo sapiens')))) 'RMUG-S' SubClassOf 'has_quality' some 'female' http://www.ebi.ac.uk/efo/EFO_0005416 serum ST2 measurement 'serum ST2 measurement' SubClassOf 'is_about' some 'cardiovascular disease' 'serum ST2 measurement' SubClassOf 'is_about' some ('protein' and ('has_role' some 'biomarker')) http://www.ebi.ac.uk/efo/EFO_0006746 RMG-I 'RMG-I' SubClassOf 'bearer_of' some 'mesonephric adenocarcinoma' 'RMG-I' SubClassOf 'has_quality' some 'female' 'RMG-I' SubClassOf 'cultured cell' 'RMG-I' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('female gonad' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0005419 contrast sensitivity measurement 'contrast sensitivity measurement' SubClassOf 'is_about' some 'eye disease' 'contrast sensitivity measurement' SubClassOf 'is_about' some 'eye' http://purl.obolibrary.org/obo/CHEBI_107726 sphingomyelin d18:1/24:1 'sphingomyelin d18:1/24:1' SubClassOf 'sphingomyelin' 'sphingomyelin d18:1/24:1' SubClassOf 'sphingomyelin' http://purl.obolibrary.org/obo/CHEBI_8378 prednisolone 'prednisolone' SubClassOf 'has_role' some 'hormone role' http://www.ebi.ac.uk/efo/EFO_0006770 UM-UC-1 'UM-UC-1' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('urinary bladder' and ('part_of' some 'Homo sapiens')))) 'UM-UC-1' SubClassOf 'has_quality' some 'male' 'UM-UC-1' SubClassOf 'cultured cell' 'UM-UC-1' SubClassOf 'bearer_of' some 'bladder transitional cell carcinoma' http://www.ebi.ac.uk/efo/EFO_0004111 obsolete_seq file type flag 'obsolete_seq file type flag' SubClassOf 'obsolete class' 'obsolete_seq file type flag' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0005442 OVCAR4 'OVCAR4' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('female gonad' and ('part_of' some 'Homo sapiens')))) 'OVCAR4' SubClassOf 'has_quality' some 'female' 'OVCAR4' SubClassOf 'bearer_of' some 'ovarian carcinoma' http://www.ebi.ac.uk/efo/EFO_0006774 WM-266-4 'WM-266-4' SubClassOf 'has_quality' some 'female' 'WM-266-4' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('zone of skin' and ('part_of' some 'Homo sapiens')))) 'WM-266-4' SubClassOf 'bearer_of' some 'melanoma' 'WM-266-4' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0004112 obsolete_seq library strategy flag 'obsolete_seq library strategy flag' SubClassOf 'obsolete class' 'obsolete_seq library strategy flag' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0005443 OVCAR5 'OVCAR5' SubClassOf 'bearer_of' some 'ovarian carcinoma' 'OVCAR5' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('female gonad' and ('part_of' some 'Homo sapiens')))) 'OVCAR5' SubClassOf 'has_quality' some 'female' http://www.ebi.ac.uk/efo/EFO_0006773 VMRC-LCD 'VMRC-LCD' SubClassOf 'cultured cell' 'VMRC-LCD' SubClassOf 'bearer_of' some 'lung adenocarcinoma' 'VMRC-LCD' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) 'VMRC-LCD' SubClassOf 'has_quality' some 'male' http://www.ebi.ac.uk/efo/EFO_0006772 undifferentiated carcinoma 'undifferentiated carcinoma' SubClassOf 'carcinoma' 'undifferentiated carcinoma' SubClassOf 'carcinoma' http://www.ebi.ac.uk/efo/EFO_0004110 obsolete_validation flag 'obsolete_validation flag' SubClassOf 'obsolete class' 'obsolete_validation flag' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0005441 DU 145 'DU 145' SubClassOf 'has_quality' some 'male' 'DU 145' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'DU 145' SubClassOf 'bearer_of' some 'carcinoma' http://www.ebi.ac.uk/efo/EFO_0006771 UM-UC-3 'UM-UC-3' SubClassOf 'bearer_of' some 'bladder transitional cell carcinoma' 'UM-UC-3' SubClassOf 'has_quality' some 'male' 'UM-UC-3' SubClassOf 'cultured cell' 'UM-UC-3' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('urinary bladder' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0004115 obsolete_seq instrument model flag 'obsolete_seq instrument model flag' SubClassOf 'obsolete class' 'obsolete_seq instrument model flag' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0005446 PEO14 'PEO14' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('female gonad' and ('part_of' some 'Homo sapiens')))) 'PEO14' SubClassOf 'bearer_of' some 'ovarian carcinoma' http://www.ebi.ac.uk/efo/EFO_0006778 YAPC 'YAPC' SubClassOf 'bearer_of' some 'pancreatic carcinoma' 'YAPC' SubClassOf 'has_quality' some 'male' 'YAPC' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('pancreas' and ('part_of' some 'Homo sapiens')))) 'YAPC' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0004116 obsolete_QC type flag 'obsolete_QC type flag' SubClassOf 'obsolete class' 'obsolete_QC type flag' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0005447 PEO23 'PEO23' SubClassOf 'bearer_of' some 'ovarian carcinoma' 'PEO23' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('female gonad' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0006777 WSU-NHL 'WSU-NHL' SubClassOf 'cancer cell line' 'WSU-NHL' SubClassOf 'lymphoma or leukaemia cell line' 'WSU-NHL' SubClassOf 'cultured cell' 'WSU-NHL' SubClassOf 'has_quality' some 'female' 'WSU-NHL' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('blood' and ('part_of' some 'Homo sapiens')))) 'WSU-NHL' SubClassOf 'bearer_of' some 'neoplasm of mature B-cells' http://www.ebi.ac.uk/efo/EFO_0004113 obsolete_seq library source flag 'obsolete_seq library source flag' SubClassOf 'obsolete class' 'obsolete_seq library source flag' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0005444 OVCAR8 'OVCAR8' SubClassOf 'has_quality' some 'female' 'OVCAR8' SubClassOf 'bearer_of' some 'ovarian carcinoma' 'OVCAR8' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('female gonad' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0006776 WSU-FSCCL 'WSU-FSCCL' SubClassOf 'cancer cell line' 'WSU-FSCCL' SubClassOf 'cultured cell' 'WSU-FSCCL' SubClassOf 'has_quality' some 'male' 'WSU-FSCCL' SubClassOf 'lymphoma or leukaemia cell line' 'WSU-FSCCL' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lymph node' and ('part_of' some 'Homo sapiens')))) 'WSU-FSCCL' SubClassOf 'bearer_of' some 'neoplasm of mature B-cells' http://www.ebi.ac.uk/efo/EFO_0004114 obsolete_seq library selection flag 'obsolete_seq library selection flag' SubClassOf 'obsolete class' 'obsolete_seq library selection flag' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0005445 PEO1 'PEO1' SubClassOf 'cultured cell' 'PEO1' SubClassOf 'bearer_of' some 'ovarian carcinoma' 'PEO1' SubClassOf 'has_quality' some 'female' 'PEO1' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('female gonad' and ('part_of' some 'Homo sapiens')))) 'PEO1' SubClassOf 'bearer_of' some 'ovarian serous adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0006775 WSU-DLCL2 'WSU-DLCL2' SubClassOf 'cancer cell line' 'WSU-DLCL2' SubClassOf 'bearer_of' some 'neoplasm of mature B-cells' 'WSU-DLCL2' SubClassOf 'lymphoma or leukaemia cell line' 'WSU-DLCL2' SubClassOf 'has_quality' some 'male' 'WSU-DLCL2' SubClassOf 'cultured cell' 'WSU-DLCL2' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lymph node' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0004119 obsolete_AE experiment type flag 'obsolete_AE experiment type flag' SubClassOf 'obsolete class' 'obsolete_AE experiment type flag' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004117 obsolete_Atlas experiment type flag 'obsolete_Atlas experiment type flag' SubClassOf 'obsolete class' 'obsolete_Atlas experiment type flag' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0005448 PEO4 'PEO4' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('female gonad' and ('part_of' some 'Homo sapiens')))) 'PEO4' SubClassOf 'bearer_of' some 'ovarian carcinoma' http://www.ebi.ac.uk/efo/EFO_0004118 obsolete_factor type flag 'obsolete_factor type flag' SubClassOf 'obsolete class' 'obsolete_factor type flag' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0005449 PEO6 'PEO6' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('female gonad' and ('part_of' some 'Homo sapiens')))) 'PEO6' SubClassOf 'bearer_of' some 'ovarian carcinoma' http://www.ebi.ac.uk/efo/EFO_0006779 YMB-1 'YMB-1' SubClassOf 'has_quality' some 'female' 'YMB-1' SubClassOf 'bearer_of' some 'breast carcinoma' 'YMB-1' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('breast' and ('part_of' some 'Homo sapiens')))) 'YMB-1' SubClassOf 'cultured cell' http://purl.obolibrary.org/obo/CLO_0010557 GM08436 'GM08436' SubClassOf 'cultured cell' 'GM08436' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM08436' SubClassOf 'has_quality' some 'male' http://www.orpha.net/ORDO/Orphanet_269573 Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0016055 and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' SubClassOf 'Rare genetic neurological disorder' 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 http://www.orpha.net/ORDO/Orphanet_269570 Genetic syndrome with a Dandy-Walker malformation as major feature 'Genetic syndrome with a Dandy-Walker malformation as major feature' SubClassOf 'Genetic syndrome with a cerebellar malformation as major feature' 'Genetic syndrome with a Dandy-Walker malformation as major feature' SubClassOf 'Genetic syndrome with a cerebellar malformation as major feature' http://www.ebi.ac.uk/efo/EFO_0004100 interleukin 'interleukin' SubClassOf 'has_role' some 'cytokine role' http://www.ebi.ac.uk/efo/EFO_0006763 SUP-B15 'SUP-B15' SubClassOf 'bearer_of' some 'acute lymphoblastic leukemia' 'SUP-B15' SubClassOf 'cultured cell' 'SUP-B15' SubClassOf 'has_quality' some 'male' 'SUP-B15' SubClassOf 'derives_from' some ('lymphoblast' and ('part_of' some ('bone marrow' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0004101 obsolete_validation type 'obsolete_validation type' SubClassOf 'obsolete class' 'obsolete_validation type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0006762 SUM229PE 'SUM229PE' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('breast' and ('part_of' some 'Homo sapiens')))) 'SUM229PE' SubClassOf 'bearer_of' some 'breast carcinoma' 'SUM229PE' SubClassOf 'cultured cell' 'SUM229PE' SubClassOf 'has_quality' some 'female' http://www.ebi.ac.uk/efo/EFO_0006761 SNU-C1 'SNU-C1' SubClassOf 'cancer cell line' 'SNU-C1' SubClassOf 'has_quality' some 'male' 'SNU-C1' SubClassOf 'cultured cell' 'SNU-C1' SubClassOf 'bearer_of' some 'colorectal adenocarcinoma' 'SNU-C1' SubClassOf 'colorectal cancer cell line' 'SNU-C1' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('colon' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0006760 SNU-719 'SNU-719' SubClassOf 'bearer_of' some 'gastric carcinoma' 'SNU-719' SubClassOf 'has_quality' some 'male' 'SNU-719' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('stomach' and ('part_of' some 'Homo sapiens')))) 'SNU-719' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0004104 obsolete_seq library source 'obsolete_seq library source' SubClassOf 'obsolete class' 'obsolete_seq library source' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0006767 TYK-nu.CP-r 'TYK-nu.CP-r' SubClassOf 'cultured cell' 'TYK-nu.CP-r' SubClassOf 'bearer_of' some 'undifferentiated carcinoma' 'TYK-nu.CP-r' SubClassOf 'has_quality' some 'female' 'TYK-nu.CP-r' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('female gonad' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0004105 obsolete_seq library selection 'obsolete_seq library selection' SubClassOf 'obsolete class' 'obsolete_seq library selection' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0006766 TYK-nu 'TYK-nu' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('female gonad' and ('part_of' some 'Homo sapiens')))) 'TYK-nu' SubClassOf 'cultured cell' 'TYK-nu' SubClassOf 'bearer_of' some 'ovarian carcinoma' http://www.ebi.ac.uk/efo/EFO_0004102 obsolete_seq library strategy 'obsolete_seq library strategy' SubClassOf 'obsolete class' 'obsolete_seq library strategy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0006765 TK-10 'TK-10' SubClassOf 'has_quality' some 'male' 'TK-10' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('kidney' and ('part_of' some 'Homo sapiens')))) 'TK-10' SubClassOf 'cultured cell' 'TK-10' SubClassOf 'bearer_of' some 'renal carcinoma' http://www.ebi.ac.uk/efo/EFO_0004103 obsolete_seq file type 'obsolete_seq file type' SubClassOf 'obsolete class' 'obsolete_seq file type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0006764 TCC-PAN2 'TCC-PAN2' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('pancreas' and ('part_of' some 'Homo sapiens')))) 'TCC-PAN2' SubClassOf 'bearer_of' some 'pancreatic carcinoma' 'TCC-PAN2' SubClassOf 'cultured cell' 'TCC-PAN2' SubClassOf 'has_quality' some 'female' http://www.ebi.ac.uk/efo/EFO_0004108 obsolete_Atlas experiment type 'obsolete_Atlas experiment type' SubClassOf 'obsolete class' 'obsolete_Atlas experiment type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004109 obsolete_factor type 'obsolete_factor type' SubClassOf 'obsolete class' 'obsolete_factor type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004106 obsolete_seq instrument model 'obsolete_seq instrument model' SubClassOf 'obsolete class' 'obsolete_seq instrument model' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0006769 UCSD-242l 'UCSD-242l' SubClassOf 'bearer_of' some 'melanoma' 'UCSD-242l' SubClassOf 'cultured cell' 'UCSD-242l' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('zone of skin' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0004107 obsolete_Atlas Quality Control type 'obsolete_Atlas Quality Control type' SubClassOf 'obsolete class' 'obsolete_Atlas Quality Control type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0006768 U-698-M 'U-698-M' SubClassOf 'cancer cell line' 'U-698-M' SubClassOf 'bearer_of' some 'neoplasm of mature B-cells' 'U-698-M' SubClassOf 'cultured cell' 'U-698-M' SubClassOf 'lymphoma or leukaemia cell line' 'U-698-M' SubClassOf 'has_quality' some 'male' 'U-698-M' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lymph node' and ('part_of' some 'Homo sapiens')))) http://www.orpha.net/ORDO/Orphanet_269567 Genetic syndrome with a cerebellar malformation as major feature 'Genetic syndrome with a cerebellar malformation as major feature' SubClassOf 'Genetic syndrome with a central nervous system malformation as major feature' 'Genetic syndrome with a cerebellar malformation as major feature' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Genetic syndrome with a cerebellar malformation as major feature' SubClassOf 'Genetic syndrome with a central nervous system malformation as major feature' http://www.orpha.net/ORDO/Orphanet_269560 Genetic cerebellar malformation 'Genetic cerebellar malformation' SubClassOf 'Genetic posterior fossa malformation' 'Genetic cerebellar malformation' SubClassOf 'Genetic posterior fossa malformation' http://www.orpha.net/ORDO/Orphanet_269564 Genetic syndrome with a central nervous system malformation as major feature 'Genetic syndrome with a central nervous system malformation as major feature' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some http://purl.obolibrary.org/obo/MONDO_0020022 'Genetic syndrome with a central nervous system malformation as major feature' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020022 http://www.ebi.ac.uk/efo/EFO_0005460 SKI-DCLC 'SKI-DCLC' SubClassOf 'bearer_of' some 'diffuse large B-cell lymphoma' 'SKI-DCLC' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0004130 obsolete_Diamond-Blackfan anemia 'obsolete_Diamond-Blackfan anemia' SubClassOf 'obsolete class' 'obsolete_Diamond-Blackfan anemia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0005461 SUDHL1 'SUDHL1' SubClassOf 'cancer cell line' 'SUDHL1' SubClassOf 'lymphoma or leukaemia cell line' 'SUDHL1' SubClassOf 'bearer_of' some 'anaplastic large cell lymphoma' 'SUDHL1' SubClassOf 'has_quality' some 'male' 'SUDHL1' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0006791 vascular brain injury 'vascular brain injury' SubClassOf 'vascular disease' 'vascular brain injury' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043510 'vascular brain injury' SubClassOf 'cerebrovascular disorder' http://www.ebi.ac.uk/efo/EFO_0006790 cerebral amyloid angiopathy 'cerebral amyloid angiopathy' SubClassOf 'cerebrovascular disorder' 'cerebral amyloid angiopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018634 'cerebral amyloid angiopathy' SubClassOf 'Genetic cerebrovascular dementia' 'cerebral amyloid angiopathy' SubClassOf 'cerebrovascular disorder' 'cerebral amyloid angiopathy' SubClassOf 'Metabolic disease with dementia' 'cerebral amyloid angiopathy' SubClassOf 'cerebral small vessel disease' http://www.ebi.ac.uk/efo/EFO_0004133 obsolete_angioedemas, hereditary 'obsolete_angioedemas, hereditary' SubClassOf 'obsolete class' 'obsolete_angioedemas, hereditary' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0006795 serum VEGFR2 concentration measurement 'serum VEGFR2 concentration measurement' SubClassOf 'is_about' some 'Familial capillary hemangioma' http://www.ebi.ac.uk/efo/EFO_0004131 obsolete_Angelman syndrome 'obsolete_Angelman syndrome' SubClassOf 'obsolete class' 'obsolete_Angelman syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0006794 cerebrospinal fluid biomarker measurement 'cerebrospinal fluid biomarker measurement' EquivalentTo 'measurement' and ('is_about' some 'cerebrospinal fluid') http://www.ebi.ac.uk/efo/EFO_0005462 SW527 'SW527' SubClassOf 'has_quality' some 'female' 'SW527' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0004132 obsolete_aniridia 'obsolete_aniridia' SubClassOf 'obsolete class' 'obsolete_aniridia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0006793 left inferior lateral ventricle volume measurement 'left inferior lateral ventricle volume measurement' SubClassOf 'is_about' some 'brain' 'left inferior lateral ventricle volume measurement' SubClassOf 'is_about' some 'Alzheimer's disease' 'left inferior lateral ventricle volume measurement' SubClassOf 'is_about' some 'volume' http://www.ebi.ac.uk/efo/EFO_0004137 obsolete_epidermolytic hyperkeratosis 'obsolete_epidermolytic hyperkeratosis' SubClassOf 'obsolete class' 'obsolete_epidermolytic hyperkeratosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004138 bundle branch block 'bundle branch block' SubClassOf 'conduction system disorder' 'bundle branch block' SubClassOf 'conduction system disorder' 'bundle branch block' SubClassOf 'Familial progressive cardiac conduction defect' 'bundle branch block' SubClassOf 'has_disease_location' some ('heart' or ('part_of' some 'heart')) http://www.ebi.ac.uk/efo/EFO_0006799 Lewy body dementia measurement 'Lewy body dementia measurement' SubClassOf 'is_about' some 'Lewy body dementia' 'Lewy body dementia measurement' SubClassOf 'is_about' some 'brain' http://www.ebi.ac.uk/efo/EFO_0004135 obsolete_Machado-Joseph disease 'obsolete_Machado-Joseph disease' SubClassOf 'obsolete class' 'obsolete_Machado-Joseph disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0006798 neuritic plaque measurement 'neuritic plaque measurement' SubClassOf 'is_about' some 'Alzheimer's disease' 'neuritic plaque measurement' SubClassOf 'is_about' some 'senile plaques' http://www.ebi.ac.uk/efo/EFO_0004136 obsolete_basal cell nevus syndrome 'obsolete_basal cell nevus syndrome' SubClassOf 'obsolete class' 'obsolete_basal cell nevus syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0006797 neurofibrillary tangles measurement 'neurofibrillary tangles measurement' SubClassOf 'is_about' some 'brain' 'neurofibrillary tangles measurement' SubClassOf ('is_about' some 'Alzheimer's disease') or ('is_about' some 'tauopathy') http://www.ebi.ac.uk/efo/EFO_0004139 obsolete_Caffey disease 'obsolete_Caffey disease' SubClassOf 'obsolete class' 'obsolete_Caffey disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_281201 Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome 'Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome' SubClassOf 'Autosomal dominant diffuse mutilating palmoplantar keratoderma' 'Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome' SubClassOf 'Inherited non-syndromic ichthyosis' 'Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome' SubClassOf 'Autosomal dominant diffuse mutilating palmoplantar keratoderma' 'Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome' SubClassOf 'Autosomal dominant isolated diffuse palmoplantar keratoderma' 'Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome' SubClassOf 'Inherited non-syndromic ichthyosis' http://www.ebi.ac.uk/efo/EFO_0006781 coffee consumption measurement 'coffee consumption measurement' SubClassOf ('is_about' some 'caffeine') and ('is_about' some 'coffee consumption') http://www.ebi.ac.uk/efo/EFO_0005450 SF126 'SF126' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('central nervous system' and ('part_of' some 'Homo sapiens')))) 'SF126' SubClassOf 'bearer_of' some 'glioblastoma multiforme' 'SF126' SubClassOf 'has_quality' some 'female' http://www.ebi.ac.uk/efo/EFO_0006780 YMB-1-E 'YMB-1-E' SubClassOf 'cultured cell' 'YMB-1-E' SubClassOf 'bearer_of' some 'breast carcinoma' 'YMB-1-E' SubClassOf 'has_quality' some 'female' 'YMB-1-E' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('breast' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0004122 obsolete_neurofibromatosis type II 'obsolete_neurofibromatosis type II' SubClassOf 'obsolete class' 'obsolete_neurofibromatosis type II' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0005453 SF539 'SF539' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('central nervous system' and ('part_of' some 'Homo sapiens')))) 'SF539' SubClassOf 'bearer_of' some 'central nervous system cancer' 'SF539' SubClassOf 'has_quality' some 'female' http://www.ebi.ac.uk/efo/EFO_0004123 obsolete_acrocephalosyndactylia 'obsolete_acrocephalosyndactylia' SubClassOf 'obsolete class' 'obsolete_acrocephalosyndactylia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0005454 SHEF-1 'SHEF-1' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('blastocyst' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0004120 obsolete_ArrayExpress experiment type 'obsolete_ArrayExpress experiment type' SubClassOf 'obsolete class' 'obsolete_ArrayExpress experiment type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0005451 SF268 'SF268' SubClassOf 'has_quality' some 'female' 'SF268' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('central nervous system' and ('part_of' some 'Homo sapiens')))) 'SF268' SubClassOf 'bearer_of' some 'anaplastic astrocytoma' http://www.ebi.ac.uk/efo/EFO_0004121 obsolete_achondroplasia 'obsolete_achondroplasia' SubClassOf 'obsolete class' 'obsolete_achondroplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0005452 SF295 'SF295' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('central nervous system' and ('part_of' some 'Homo sapiens')))) 'SF295' SubClassOf 'bearer_of' some 'glioblastoma multiforme' 'SF295' SubClassOf 'has_quality' some 'female' http://www.ebi.ac.uk/efo/EFO_0004126 Adie syndrome 'Adie syndrome' SubClassOf 'sensory system disease' 'Adie syndrome' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Adie syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Adie syndrome' SubClassOf 'sensory system disease' http://www.ebi.ac.uk/efo/EFO_0005457 SK-MM-1 'SK-MM-1' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0006789 typhoid fever 'typhoid fever' SubClassOf 'bacterial disease' 'typhoid fever' SubClassOf 'disease has feature' some 'intestinal perforation' 'typhoid fever' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019331 'typhoid fever' DisjointWith 'typhus' 'typhoid fever' SubClassOf 'disease has feature' some http://purl.obolibrary.org/obo/MONDO_0002203 'typhoid fever' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000827 'typhoid fever' SubClassOf ('has_participant' some 'Salmonella enterica subsp. enterica serovar Paratyphi A') or ('has_participant' some 'Salmonella enterica subsp. enterica serovar Typhi') 'typhoid fever' SubClassOf 'disease has feature' some 'exanthem' http://www.ebi.ac.uk/efo/EFO_0006788 anxiety disorder 'anxiety disorder' SubClassOf 'mental or behavioural disorder' 'anxiety disorder' SubClassOf 'mental or behavioural disorder' http://www.ebi.ac.uk/efo/EFO_0004127 hyperthyroxinemia 'hyperthyroxinemia' SubClassOf 'endocrine system disease' 'hyperthyroxinemia' SubClassOf 'thyroid disease' http://www.ebi.ac.uk/efo/EFO_0005458 SK-MM-2 'SK-MM-2' SubClassOf 'cancer cell line' 'SK-MM-2' SubClassOf 'lymphoma or leukaemia cell line' 'SK-MM-2' SubClassOf 'cultured cell' and ('bearer_of' some 'multiple myeloma') http://www.ebi.ac.uk/efo/EFO_0004124 obsolete_Darier's disease 'obsolete_Darier's disease' SubClassOf 'obsolete class' 'obsolete_Darier's disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0005455 SHEF-3 'SHEF-3' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('blastocyst' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0006787 HM7 'HM7' SubClassOf 'bearer_of' some 'adenocarcinoma' 'HM7' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('colon' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0005456 SHEP-2 'SHEP-2' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0006786 EKVX 'EKVX' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) 'EKVX' SubClassOf 'bearer_of' some 'adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0004128 hereditary nephritis 'hereditary nephritis' SubClassOf 'nephritis' 'hereditary nephritis' SubClassOf 'nephritis' 'hereditary nephritis' EquivalentTo 'nephritis' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) 'hereditary nephritis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003847 http://www.ebi.ac.uk/efo/EFO_0005459 obsolete_SK-N-F1 'obsolete_SK-N-F1' SubClassOf 'obsolete class' 'obsolete_SK-N-F1' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004129 familial amyloid neuropathy 'familial amyloid neuropathy' SubClassOf 'peripheral neuropathy' 'familial amyloid neuropathy' SubClassOf 'Rare hereditary systemic disease with peripheral neuropathy' 'familial amyloid neuropathy' SubClassOf 'Familial transthyretin-related amyloidosis' 'familial amyloid neuropathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015923 http://purl.obolibrary.org/obo/UBERON_0007135 neural keel 'neural keel' SubClassOf 'develops_from' some 'presumptive neural plate' 'neural keel' SubClassOf 'develops_from' some 'ectoderm' 'neural keel' SubClassOf http://purl.obolibrary.org/obo/UBERON_0016879 http://www.orpha.net/ORDO/Orphanet_281210 X-linked ichthyosis syndrome 'X-linked ichthyosis syndrome' SubClassOf 'Inherited ichthyosis syndromic form' 'X-linked ichthyosis syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000425 'X-linked ichthyosis syndrome' SubClassOf 'Inherited ichthyosis syndromic form' http://www.ebi.ac.uk/efo/EFO_0004151 obsolete_Alagille syndrome 'obsolete_Alagille syndrome' SubClassOf 'obsolete class' 'obsolete_Alagille syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0005482 416B '416B' SubClassOf 'derives_from' some ('myeloid lineage restricted progenitor cell' and ('part_of' some ('blood' and ('part_of' some 'Mus musculus')))) '416B' SubClassOf 'has_quality' some 'male' '416B' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0004152 chorea 'chorea' SubClassOf 'nervous system disease' 'chorea' SubClassOf 'Neurodegenerative disease with chorea' 'chorea' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001595 'chorea' SubClassOf 'Huntington disease-like syndrome' http://www.ebi.ac.uk/efo/EFO_0005483 ES-Bruce4 'ES-Bruce4' SubClassOf 'has_quality' some 'male' 'ES-Bruce4' SubClassOf 'derives_from' some ('embryonic stem cell' and ('part_of' some ('embryo' and ('part_of' some 'Mus musculus')))) 'ES-Bruce4' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0005480 MEL-GATA-1-ER 'MEL-GATA-1-ER' SubClassOf 'cultured cell' 'MEL-GATA-1-ER' SubClassOf 'derives_from' some ('erythroblast' and ('part_of' some ('blood' and ('part_of' some 'Mus musculus')))) http://www.ebi.ac.uk/efo/EFO_0004150 obsolete_cherubism 'obsolete_cherubism' SubClassOf 'obsolete class' 'obsolete_cherubism' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0005481 Patski 'Patski' SubClassOf 'has_quality' some 'female' 'Patski' SubClassOf 'derives_from' some ('fibroblast' and ('part_of' some ('kidney' and ('part_of' some 'Mus musculus')))) 'Patski' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0005486 J185a 'J185a' SubClassOf 'derives_from' some ('myoblast' and ('part_of' some ('embryo' and ('part_of' some 'Mus musculus')))) 'J185a' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0004153 obsolete_cleidocranial dysplasia 'obsolete_cleidocranial dysplasia' SubClassOf 'obsolete class' 'obsolete_cleidocranial dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0005484 46C '46C' SubClassOf 'derives_from' some 'embryonic stem cell' '46C' SubClassOf 'derives_from' some ('mouse neural progenitor cell' and ('part_of' some ('embryo' and ('part_of' some 'Mus musculus')))) '46C' SubClassOf 'has_quality' some 'male' '46C' SubClassOf 'cultured cell' http://purl.obolibrary.org/obo/CHEBI_88765 pregnanediol-3-glucuronide 'pregnanediol-3-glucuronide' SubClassOf 'lipid' 'pregnanediol-3-glucuronide' SubClassOf 'lipid' http://www.ebi.ac.uk/efo/EFO_0005485 TT2 'TT2' SubClassOf 'cultured cell' 'TT2' SubClassOf 'has_quality' some 'male' 'TT2' SubClassOf 'derives_from' some ('embryonic stem cell' and ('part_of' some ('embryo' and ('part_of' some 'Mus musculus')))) http://www.orpha.net/ORDO/Orphanet_281217 Autosomal ichthyosis syndrome 'Autosomal ichthyosis syndrome' SubClassOf 'Inherited ichthyosis syndromic form' 'Autosomal ichthyosis syndrome' SubClassOf 'Inherited ichthyosis syndromic form' http://www.orpha.net/ORDO/Orphanet_329481 Lipoprotein glomerulopathy 'Lipoprotein glomerulopathy' SubClassOf 'Primary glomerular disease' 'Lipoprotein glomerulopathy' SubClassOf 'Rare syndromic dyslipidemia' 'Lipoprotein glomerulopathy' SubClassOf 'Primary glomerular disease' 'Lipoprotein glomerulopathy' SubClassOf 'Rare syndromic dyslipidemia' http://purl.obolibrary.org/obo/CHEBI_75450 1-oleoyl-2-linoleoyl-glycerol (18:1/18:2) '1-oleoyl-2-linoleoyl-glycerol (18:1/18:2)' SubClassOf 'lipid' '1-oleoyl-2-linoleoyl-glycerol (18:1/18:2)' SubClassOf 'lipid' http://purl.obolibrary.org/obo/CHEBI_9678 tribenuron methyl 'tribenuron methyl' SubClassOf 'has_role' some 'agrochemical role' http://www.orpha.net/ORDO/Orphanet_281222 Autosomal ichthyosis syndrome with prominent hair abnormalities 'Autosomal ichthyosis syndrome with prominent hair abnormalities' SubClassOf 'Autosomal ichthyosis syndrome' 'Autosomal ichthyosis syndrome with prominent hair abnormalities' SubClassOf 'Autosomal ichthyosis syndrome' http://www.ebi.ac.uk/efo/EFO_0004140 obsolete_campomelic dysplasia 'obsolete_campomelic dysplasia' SubClassOf 'obsolete class' 'obsolete_campomelic dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004141 obsolete_perineum 'obsolete_perineum' SubClassOf 'obsolete class' 'obsolete_perineum' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004144 acatalasia 'acatalasia' SubClassOf 'metabolic disease' 'acatalasia' SubClassOf 'Disorder of peroxisomal alpha-, beta- and omega-oxidation' 'acatalasia' SubClassOf 'realized_in' some ('disease course' and ('has part' some 'metabolic process')) http://www.ebi.ac.uk/efo/EFO_0005475 BL-2 'BL-2' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('bone marrow' and ('part_of' some 'Homo sapiens')))) 'BL-2' SubClassOf 'cultured cell' 'BL-2' SubClassOf 'has_quality' some 'male' 'BL-2' SubClassOf 'bearer_of' some 'Burkitts lymphoma' http://www.ebi.ac.uk/efo/EFO_0004145 myopathy 'myopathy' SubClassOf 'muscular disease' 'myopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003939 'myopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044974 http://www.ebi.ac.uk/efo/EFO_0005476 JVM-2 'JVM-2' SubClassOf 'cultured cell' 'JVM-2' SubClassOf 'bearer_of' some 'lymphoma' 'JVM-2' SubClassOf 'derives_from' some ('lymphoblast' and ('part_of' some ('blood' and ('part_of' some 'Homo sapiens')))) 'JVM-2' SubClassOf 'has_quality' some 'female' http://www.ebi.ac.uk/efo/EFO_0004142 colorectal neoplasm 'colorectal neoplasm' SubClassOf 'neoplasm' 'colorectal neoplasm' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021118 'colorectal neoplasm' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024634 http://www.ebi.ac.uk/efo/EFO_0004143 carpal tunnel syndrome 'carpal tunnel syndrome' SubClassOf 'nervous system disease' 'carpal tunnel syndrome' SubClassOf 'nerve compression syndrome' 'carpal tunnel syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'carpal tunnel syndrome' SubClassOf 'Genetic peripheral neuropathy' http://www.ebi.ac.uk/efo/EFO_0004148 obsolete_Charcot-Marie-Tooth disease 'obsolete_Charcot-Marie-Tooth disease' SubClassOf 'obsolete class' 'obsolete_Charcot-Marie-Tooth disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0005479 Z-138 'Z-138' SubClassOf 'derives_from' some ('lymphoblast' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'Z-138' SubClassOf 'cultured cell' 'Z-138' SubClassOf 'has_quality' some 'male' 'Z-138' SubClassOf 'bearer_of' some 'lymphoma' http://www.orpha.net/ORDO/Orphanet_329475 Spastic paraplegia - Paget disease of bone 'Spastic paraplegia - Paget disease of bone' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'Spastic paraplegia - Paget disease of bone' SubClassOf 'Autosomal dominant complex spastic paraplegia' 'Spastic paraplegia - Paget disease of bone' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 'Spastic paraplegia - Paget disease of bone' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'Spastic paraplegia - Paget disease of bone' SubClassOf 'Autosomal dominant complex spastic paraplegia' http://www.ebi.ac.uk/efo/EFO_0004146 obsolete_central core myopathy 'obsolete_central core myopathy' SubClassOf 'obsolete class' 'obsolete_central core myopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0005477 obsolete_KARPAS 422 'obsolete_KARPAS 422' SubClassOf 'obsolete class' 'obsolete_KARPAS 422' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004147 obsolete_Sotos syndrome 'obsolete_Sotos syndrome' SubClassOf 'obsolete class' 'obsolete_Sotos syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0005478 obsolete_U-266 'obsolete_U-266' SubClassOf 'obsolete class' 'obsolete_U-266' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/CHEBI_63490 explosive role 'explosive role' SubClassOf 'inheres_in' some 'chemical entity' http://www.orpha.net/ORDO/Orphanet_329478 Adult-onset distal myopathy due to VCP mutation 'Adult-onset distal myopathy due to VCP mutation' SubClassOf 'Autosomal dominant distal myopathy' 'Adult-onset distal myopathy due to VCP mutation' SubClassOf 'Autosomal dominant distal myopathy' http://www.ebi.ac.uk/efo/EFO_0005383 HMEC1 'HMEC1' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('mammary gland' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0005384 HuH-7 'HuH-7' SubClassOf 'has_quality' some 'male' 'HuH-7' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('liver' and ('part_of' some 'Homo sapiens')))) 'HuH-7' SubClassOf 'part_of' some 'Japanese' 'HuH-7' SubClassOf 'bearer_of' some 'hepatocellular carcinoma' http://www.ebi.ac.uk/efo/EFO_0005382 HepG3 'HepG3' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('liver' and ('part_of' some 'Homo sapiens')))) 'HepG3' SubClassOf 'bearer_of' some 'hepatocellular carcinoma' 'HepG3' SubClassOf 'derives_from' some 'HepG2' http://www.ebi.ac.uk/efo/EFO_0005387 JeKo-1 'JeKo-1' SubClassOf 'bearer_of' some 'lymphoma' 'JeKo-1' SubClassOf 'has_quality' some 'female' 'JeKo-1' SubClassOf 'derives_from' some ('lymphoblast' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0005388 JIMT-1 'JIMT-1' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('mammary gland' and ('part_of' some 'Homo sapiens')))) 'JIMT-1' SubClassOf 'has_quality' some 'female' 'JIMT-1' SubClassOf 'bearer_of' some 'breast carcinoma' http://www.ebi.ac.uk/efo/EFO_0005385 IGROV-1 'IGROV-1' SubClassOf 'bearer_of' some 'ovarian carcinoma' 'IGROV-1' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0005386 INA-6 'INA-6' SubClassOf 'derives_from' some ('myeloid cell' and (('part_of' some 'Homo sapiens') and ('part_of' some 'organism part'))) 'INA-6' SubClassOf 'bearer_of' some 'leukemia' http://www.ebi.ac.uk/efo/EFO_0005389 KARPAS 231 'KARPAS 231' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'KARPAS 231' SubClassOf 'bearer_of' some 'B-cell acute lymphoblastic leukemia' 'KARPAS 231' SubClassOf 'has_quality' some 'female' http://purl.obolibrary.org/obo/PO_0009010 seed 'seed' SubClassOf 'plant anatomical entity' 'seed' SubClassOf 'plant anatomical entity' http://www.orpha.net/ORDO/Orphanet_208596 Genetic hyperparathyroidism 'Genetic hyperparathyroidism' SubClassOf 'Rare genetic parathyroid disease and phosphocalcic metabolism disorder' 'Genetic hyperparathyroidism' SubClassOf 'parathyroid disease' 'Genetic hyperparathyroidism' SubClassOf 'Rare genetic parathyroid disease and phosphocalcic metabolism disorder' 'Genetic hyperparathyroidism' SubClassOf 'hyperparathyroidism' 'Genetic hyperparathyroidism' EquivalentTo 'hyperparathyroidism' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) 'Genetic hyperparathyroidism' SubClassOf 'Inborn errors of metabolism' http://www.orpha.net/ORDO/Orphanet_208593 Genetic hypoparathyroidism 'Genetic hypoparathyroidism' SubClassOf 'Rare genetic parathyroid disease and phosphocalcic metabolism disorder' 'Genetic hypoparathyroidism' SubClassOf 'Inborn errors of metabolism' 'Genetic hypoparathyroidism' SubClassOf 'Rare genetic parathyroid disease and phosphocalcic metabolism disorder' 'Genetic hypoparathyroidism' EquivalentTo 'hypoparathyroidism' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) http://www.ebi.ac.uk/efo/EFO_0005390 KARPAS 299 'KARPAS 299' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'KARPAS 299' SubClassOf 'bearer_of' some 'lymphoma' 'KARPAS 299' SubClassOf 'has_quality' some 'male' http://purl.obolibrary.org/obo/PO_0009013 portion of meristem tissue 'portion of meristem tissue' SubClassOf 'portion of plant tissue' 'portion of meristem tissue' SubClassOf 'portion of plant tissue' http://www.ebi.ac.uk/efo/EFO_0005391 LA-N-1 'LA-N-1' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('bone marrow' and ('part_of' some 'Homo sapiens')))) 'LA-N-1' SubClassOf 'has_quality' some 'male' 'LA-N-1' SubClassOf 'bearer_of' some 'neuroblastoma' http://www.orpha.net/ORDO/Orphanet_269510 Congenital non-communicating hydrocephalus 'Congenital non-communicating hydrocephalus' SubClassOf 'Congenital hydrocephalus' 'Congenital non-communicating hydrocephalus' SubClassOf 'Congenital hydrocephalus' http://purl.obolibrary.org/obo/PO_0009011 plant structure 'plant structure' SubClassOf 'plant component' 'plant structure' SubClassOf 'plant component' http://purl.obolibrary.org/obo/CHEBI_88670 dihomo-linoleate (20:2n6) 'dihomo-linoleate (20:2n6)' SubClassOf 'lipid' 'dihomo-linoleate (20:2n6)' SubClassOf 'lipid' http://www.ebi.ac.uk/efo/EFO_0004041 NPC 'NPC' SubClassOf 'derives_from' some ('mouse neural progenitor cell' and ('part_of' some ('organism part' and ('part_of' some 'Mus')))) http://www.ebi.ac.uk/efo/EFO_0005372 HCC1419 'HCC1419' SubClassOf 'cancer cell line' 'HCC1419' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('mammary gland' and ('part_of' some 'Homo sapiens')))) 'HCC1419' SubClassOf 'bearer_of' some 'ductal adenocarcinoma' 'HCC1419' SubClassOf 'breast adenocarcinoma cell line' http://www.ebi.ac.uk/efo/EFO_0005373 HCC1806 'HCC1806' SubClassOf 'bearer_of' some 'squamous cell carcinoma' 'HCC1806' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('mammary gland' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0005370 HCC2998 'HCC2998' SubClassOf 'bearer_of' some 'adenocarcinoma' 'HCC2998' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('colon' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0004040 mouse embryonic fibroblast cell 'mouse embryonic fibroblast cell' SubClassOf 'located_in' some 'Mus' http://www.ebi.ac.uk/efo/EFO_0005371 HCC1195 'HCC1195' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'HCC1195' SubClassOf 'bearer_of' some 'carcinoma' http://www.ebi.ac.uk/efo/EFO_0005376 UACC-257 'UACC-257' SubClassOf 'bearer_of' some 'melanoma' 'UACC-257' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('zone of skin' and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_0005377 UACC-62 'UACC-62' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('zone of skin' and ('part_of' some 'organism')))) 'UACC-62' SubClassOf 'bearer_of' some 'melanoma' http://www.ebi.ac.uk/efo/EFO_0005374 HCC227 'HCC227' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'HCC227' SubClassOf 'bearer_of' some 'carcinoma' 'HCC227' SubClassOf 'has_quality' some 'female' http://www.ebi.ac.uk/efo/EFO_0005375 HCC2935 'HCC2935' SubClassOf 'bearer_of' some 'adenocarcinoma' 'HCC2935' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/EO_0001020 carbon dioxide treatment 'carbon dioxide treatment' SubClassOf 'inorganic gas treatment' 'carbon dioxide treatment' SubClassOf 'inorganic gas treatment' http://www.orpha.net/ORDO/Orphanet_269505 Congenital communicating hydrocephalus 'Congenital communicating hydrocephalus' SubClassOf 'Congenital hydrocephalus' 'Congenital communicating hydrocephalus' SubClassOf 'Congenital hydrocephalus' http://purl.obolibrary.org/obo/PO_0009029 stamen 'stamen' SubClassOf 'flower' 'stamen' SubClassOf 'flower' http://purl.obolibrary.org/obo/PO_0009025 vascular leaf 'vascular leaf' SubClassOf 'leaf' 'vascular leaf' SubClassOf 'leaf' http://purl.obolibrary.org/obo/CHEBI_37054 3-hydroxybutyrate '3-hydroxybutyrate' SubClassOf 'lipid' '3-hydroxybutyrate' SubClassOf 'lipid' http://purl.obolibrary.org/obo/PO_0009032 petal 'petal' SubClassOf 'flower' 'petal' SubClassOf 'flower' http://purl.obolibrary.org/obo/PO_0009031 sepal 'sepal' SubClassOf 'flower' 'sepal' SubClassOf 'flower' http://purl.obolibrary.org/obo/PO_0009030 carpel 'carpel' SubClassOf 'gynoecium' 'carpel' SubClassOf 'gynoecium' http://purl.obolibrary.org/obo/CHEBI_9630 tomatine 'tomatine' SubClassOf 'has_role' some 'toxin' 'tomatine' SubClassOf 'has_role' some 'fungicide' http://purl.obolibrary.org/obo/HP_0008066 Abnormal blistering of the skin 'Abnormal blistering of the skin' SubClassOf 'abnormality of the skin' 'Abnormal blistering of the skin' SubClassOf 'abnormality of the skin' http://purl.obolibrary.org/obo/PO_0009033 tepal 'tepal' SubClassOf 'part_of' some 'flower' http://www.ebi.ac.uk/efo/EFO_0005394 MLO-Y4 'MLO-Y4' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('bone' and ('part_of' some 'Mus musculus')))) http://www.ebi.ac.uk/efo/EFO_0005395 MUTZ-3 'MUTZ-3' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('mammary gland' and ('part_of' some 'Homo sapiens')))) 'MUTZ-3' SubClassOf 'bearer_of' some 'acute myeloid leukemia' http://www.ebi.ac.uk/efo/EFO_0005392 LAPC-4 'LAPC-4' SubClassOf 'bearer_of' some 'prostate carcinoma' 'LAPC-4' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lymph node' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0005393 LAPC-9 'LAPC-9' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/CHEBI_49033 methionine S-oxide 'methionine S-oxide' SubClassOf 'chemical entity' 'methionine S-oxide' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/EO_0001004 inorganic chemical treatment 'inorganic chemical treatment' SubClassOf 'chemical treatment' 'inorganic chemical treatment' SubClassOf 'chemical treatment' http://purl.obolibrary.org/obo/PO_0009049 inflorescence 'inflorescence' SubClassOf 'shoot system' 'inflorescence' SubClassOf 'shoot system' http://purl.obolibrary.org/obo/PO_0009047 stem 'stem' SubClassOf 'shoot axis' 'stem' SubClassOf 'shoot axis' http://purl.obolibrary.org/obo/PO_0009046 flower 'flower' SubClassOf 'part_of' some 'plant reproductive system structure' 'flower' EquivalentTo 'part_of' some 'flower' http://www.orpha.net/ORDO/Orphanet_271870 Rare genetic systemic or rheumatologic disease 'Rare genetic systemic or rheumatologic disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003847 'Rare genetic systemic or rheumatologic disease' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0020012 and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) 'Rare genetic systemic or rheumatologic disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020012 http://www.orpha.net/ORDO/Orphanet_269557 Genetic posterior fossa malformation 'Genetic posterior fossa malformation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020022 http://purl.obolibrary.org/obo/CHEBI_74066 Ile-Gly 'Ile-Gly' SubClassOf 'amide' 'Ile-Gly' SubClassOf 'amide' http://purl.obolibrary.org/obo/NCBITaxon_200361 Aegilops tauschii subsp. strangulata 'Aegilops tauschii subsp. strangulata' SubClassOf 'Viridiplantae' 'Aegilops tauschii subsp. strangulata' SubClassOf 'Viridiplantae' http://www.orpha.net/ORDO/Orphanet_269550 Genetic non-syndromic central nervous system malformation 'Genetic non-syndromic central nervous system malformation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020022 'Genetic non-syndromic central nervous system malformation' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021128 'Genetic non-syndromic central nervous system malformation' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0020022 and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021128) http://purl.obolibrary.org/obo/CHEBI_86051 O-otanoyl-D-carnitine 'O-otanoyl-D-carnitine' SubClassOf 'lipid' 'O-otanoyl-D-carnitine' SubClassOf 'lipid' http://www.orpha.net/ORDO/Orphanet_271861 Familial transthyretin-related amyloidosis 'Familial transthyretin-related amyloidosis' SubClassOf 'amyloidosis' 'Familial transthyretin-related amyloidosis' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'Familial transthyretin-related amyloidosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018634 'Familial transthyretin-related amyloidosis' SubClassOf 'amyloidosis' http://purl.obolibrary.org/obo/CHEBI_74074 allopurinol riboside 'allopurinol riboside' SubClassOf 'chemical entity' 'allopurinol riboside' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_74077 S-allylcysteine 'S-allylcysteine' SubClassOf 'amino acid' 'S-allylcysteine' SubClassOf 'amino acid' http://www.orpha.net/ORDO/Orphanet_271853 Genetic cardiac anomaly 'Genetic cardiac anomaly' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Genetic cardiac anomaly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021147 http://www.orpha.net/ORDO/Orphanet_232288 Alpha-thalassemia-related diseases 'Alpha-thalassemia-related diseases' SubClassOf 'Alpha-thalassemia and related diseases' 'Alpha-thalassemia-related diseases' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'Alpha-thalassemia' 'Alpha-thalassemia-related diseases' SubClassOf 'Alpha-thalassemia and related diseases' http://purl.obolibrary.org/obo/EO_0001055 inorganic gas treatment 'inorganic gas treatment' SubClassOf 'chemical treatment' 'inorganic gas treatment' SubClassOf 'chemical treatment' http://purl.obolibrary.org/obo/EO_0001054 limited nitrate regimen 'limited nitrate regimen' SubClassOf 'plant nutrient treatment' 'limited nitrate regimen' SubClassOf 'plant nutrient treatment' http://www.orpha.net/ORDO/Orphanet_271847 Genetic endocrine tumor 'Genetic endocrine tumor' SubClassOf 'has_disease_location' some ('endocrine system' or ('part_of' some 'endocrine system')) http://www.orpha.net/ORDO/Orphanet_271841 Genetic cardiac tumor 'Genetic cardiac tumor' SubClassOf 'heart disease' 'Genetic cardiac tumor' SubClassOf 'Heart neoplasm' 'Genetic cardiac tumor' EquivalentTo 'Heart neoplasm' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) 'Genetic cardiac tumor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003847 'Genetic cardiac tumor' SubClassOf 'has_disease_location' some ('heart' or ('part_of' some 'heart')) 'Genetic cardiac tumor' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://www.orpha.net/ORDO/Orphanet_271844 Genetic urogenital tumor 'Genetic urogenital tumor' SubClassOf 'has_disease_location' some ('genitourinary system' or ('part_of' some 'genitourinary system')) http://purl.obolibrary.org/obo/EO_0001056 elevated carbon dioxide treatment 'elevated carbon dioxide treatment' SubClassOf 'carbon dioxide treatment' 'elevated carbon dioxide treatment' SubClassOf 'carbon dioxide treatment' http://www.orpha.net/ORDO/Orphanet_99092 Interventricular septum aneurysm 'Interventricular septum aneurysm' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018771 http://purl.obolibrary.org/obo/CHEBI_27698 Vanadium 'Vanadium' SubClassOf 'has_role' some 'micronutrient' http://purl.obolibrary.org/obo/CHEBI_49006 N-acetylcitrulline 'N-acetylcitrulline' SubClassOf 'acid' 'N-acetylcitrulline' SubClassOf 'acid' http://www.orpha.net/ORDO/Orphanet_99095 Gerbode defect 'Gerbode defect' SubClassOf 'congenital heart malformation' http://www.orpha.net/ORDO/Orphanet_99094 Laubry-Pezzi syndrome 'Laubry-Pezzi syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018771 'Laubry-Pezzi syndrome' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021128 http://www.orpha.net/ORDO/Orphanet_99097 Single ventricular septal defect 'Single ventricular septal defect' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003847 'Single ventricular septal defect' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002070 http://purl.obolibrary.org/obo/BTO_0004687 orbit 'orbit' SubClassOf 'part_of' some 'head' http://purl.obolibrary.org/obo/PO_0009009 plant embryo 'plant embryo' SubClassOf 'plant anatomical entity' 'plant embryo' SubClassOf 'plant anatomical entity' http://www.orpha.net/ORDO/Orphanet_271835 Genetic digestive tract tumor 'Genetic digestive tract tumor' SubClassOf 'digestive system disease' 'Genetic digestive tract tumor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003847 'Genetic digestive tract tumor' SubClassOf 'has_disease_location' some ('digestive system' or ('part_of' some 'digestive system')) 'Genetic digestive tract tumor' SubClassOf 'digestive system neoplasm' 'Genetic digestive tract tumor' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://purl.obolibrary.org/obo/CL_0000202 cochlear hair cell 'cochlear hair cell' SubClassOf 'located_in' some 'cochlea' http://purl.obolibrary.org/obo/EO_0001047 limited iron regimen 'limited iron regimen' SubClassOf 'plant nutrient treatment' 'limited iron regimen' SubClassOf 'plant nutrient treatment' http://purl.obolibrary.org/obo/EO_0001046 limited phosphate treatment 'limited phosphate treatment' SubClassOf 'inorganic chemical treatment' 'limited phosphate treatment' SubClassOf 'inorganic chemical treatment' http://www.orpha.net/ORDO/Orphanet_269528 Syndrome with microcephaly as major feature 'Syndrome with microcephaly as major feature' SubClassOf 'Genetic syndrome with a central nervous system malformation as major feature' 'Syndrome with microcephaly as major feature' SubClassOf 'Rare genetic neurological disorder' 'Syndrome with microcephaly as major feature' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Syndrome with microcephaly as major feature' SubClassOf 'Genetic syndrome with a central nervous system malformation as major feature' http://www.orpha.net/ORDO/Orphanet_271832 Genetic soft tissue tumor 'Genetic soft tissue tumor' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0002616 and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) 'Genetic soft tissue tumor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003847 'Genetic soft tissue tumor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002616 'Genetic soft tissue tumor' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://purl.obolibrary.org/obo/PO_0009007 portion of plant tissue 'portion of plant tissue' SubClassOf 'plant structure' 'portion of plant tissue' SubClassOf 'plant structure' http://purl.obolibrary.org/obo/PO_0009006 shoot system 'shoot system' SubClassOf 'plant anatomical entity' 'shoot system' EquivalentTo 'shoot' 'shoot system' SubClassOf 'plant anatomical entity' http://www.orpha.net/ORDO/Orphanet_220295 Xeroderma pigmentosum-Cockayne syndrome complex 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'Syndromic retinitis pigmentosa' 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'Genetic photodermatosis' 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'Syndromic genetic deafness' 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'Premature aging' 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'Autosomal recessive cerebellar ataxia due to a DNA repair defect' 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'Genetic photodermatosis' 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'Syndromic retinitis pigmentosa' 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019304 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015333 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'Syndromic genetic deafness' 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'Premature aging' 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'Autosomal recessive cerebellar ataxia due to a DNA repair defect' http://purl.obolibrary.org/obo/PO_0009002 plant cell 'plant cell' EquivalentTo 'cell type' and ('located_in' some 'plant component') http://purl.obolibrary.org/obo/PO_0009001 fruit 'fruit' SubClassOf 'plant anatomical entity' 'fruit' SubClassOf 'plant anatomical entity' http://www.orpha.net/ORDO/Orphanet_208513 Spinocerebellar ataxia type 29 'Spinocerebellar ataxia type 29' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' 'Spinocerebellar ataxia type 29' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' http://purl.obolibrary.org/obo/CHEBI_25017 leucine 'leucine' SubClassOf 'amino acid' 'leucine' SubClassOf 'amino acid' http://purl.obolibrary.org/obo/CHEBI_86094 1-tetradecanoyl-2-[(9Z,12Z)-octadecadienoyl]-sn-glycero-3-phosphocholine '1-tetradecanoyl-2-[(9Z,12Z)-octadecadienoyl]-sn-glycero-3-phosphocholine' SubClassOf 'phospholipid' '1-tetradecanoyl-2-[(9Z,12Z)-octadecadienoyl]-sn-glycero-3-phosphocholine' SubClassOf 'phospholipid' http://www.orpha.net/ORDO/Orphanet_391457 HSD10 disease, neonatal type 'HSD10 disease, neonatal type' SubClassOf 'HSD10 disease' 'HSD10 disease, neonatal type' SubClassOf 'HSD10 disease' http://www.orpha.net/ORDO/Orphanet_53719 Wyburn-Mason syndrome 'Wyburn-Mason syndrome' SubClassOf 'Palpebral tumor with a vascular malformation' 'Wyburn-Mason syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003110 'Wyburn-Mason syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0042983 'Wyburn-Mason syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021605 'Wyburn-Mason syndrome' SubClassOf 'Palpebral tumor with a vascular malformation' 'Wyburn-Mason syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015405 'Wyburn-Mason syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019293 http://purl.obolibrary.org/obo/CL_0000216 Sertoli cell 'Sertoli cell' SubClassOf 'located_in' some 'reproductive system' 'Sertoli cell' SubClassOf 'part_of' some 'seminiferous tubules' http://www.orpha.net/ORDO/Orphanet_53715 Tumoral calcinosis 'Tumoral calcinosis' SubClassOf 'calcium metabolic disease' 'Tumoral calcinosis' SubClassOf 'Inborn errors of metabolism' 'Tumoral calcinosis' SubClassOf 'participates_in' some 'calcium ion homeostasis' http://purl.obolibrary.org/obo/CHEBI_15676 allantoin 'allantoin' SubClassOf 'chemical entity' 'allantoin' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CL_0000218 Schwann cell 'Schwann cell' SubClassOf 'located_in' some 'peripheral nervous system' http://www.orpha.net/ORDO/Orphanet_163988 Developmental delay - deafness, Hildebrand type 'Developmental delay - deafness, Hildebrand type' SubClassOf 'Syndromic genetic deafness' 'Developmental delay - deafness, Hildebrand type' SubClassOf 'X-linked syndromic intellectual disability' 'Developmental delay - deafness, Hildebrand type' SubClassOf 'Syndromic genetic deafness' 'Developmental delay - deafness, Hildebrand type' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/CL_0000222 mesodermal cell 'mesodermal cell' SubClassOf 'participates_in' some 'embryo' http://purl.obolibrary.org/obo/CHEBI_27689 decanoate 'decanoate' SubClassOf 'chemical entity' 'decanoate' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_391428 HSD10 disease, infantile type 'HSD10 disease, infantile type' SubClassOf 'HSD10 disease' 'HSD10 disease, infantile type' SubClassOf 'HSD10 disease' http://www.orpha.net/ORDO/Orphanet_209867 Autosomal dominant rhegmatogenous retinal detachment 'Autosomal dominant rhegmatogenous retinal detachment' SubClassOf 'Vitreoretinal degeneration' 'Autosomal dominant rhegmatogenous retinal detachment' SubClassOf 'retinopathy' 'Autosomal dominant rhegmatogenous retinal detachment' SubClassOf 'has_disease_location' some 'retina' 'Autosomal dominant rhegmatogenous retinal detachment' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 'Autosomal dominant rhegmatogenous retinal detachment' SubClassOf http://purl.obolibrary.org/obo/MONDO_0012287 'Autosomal dominant rhegmatogenous retinal detachment' SubClassOf 'rhegmatogenous retinal detachment' http://purl.obolibrary.org/obo/CL_0000235 macrophage 'macrophage' SubClassOf 'located_in' some 'hematopoietic system' http://purl.obolibrary.org/obo/CL_0000232 erythrocyte 'erythrocyte' SubClassOf 'located_in' some 'blood' http://purl.obolibrary.org/obo/CHEBI_27656 camptothecin 'camptothecin' SubClassOf ('has_role' some 'antineoplastic agent') and ('has_role' some 'topoisomerase I inhibitor') http://purl.obolibrary.org/obo/CL_0000236 B cell 'B cell' SubClassOf 'located_in' some 'hematopoietic system' http://purl.obolibrary.org/obo/CHEBI_27666 actinomycin D 'actinomycin D' SubClassOf 'has_role' some 'mutagen' 'actinomycin D' SubClassOf 'has_role' some 'antimicrobial agent' http://www.orpha.net/ORDO/Orphanet_209886 Familial juvenile hyperuricemic nephropathy type 1 'Familial juvenile hyperuricemic nephropathy type 1' SubClassOf 'Disorder of purine metabolism' 'Familial juvenile hyperuricemic nephropathy type 1' SubClassOf 'Familial cystic renal disease' 'Familial juvenile hyperuricemic nephropathy type 1' SubClassOf 'Disorder of purine metabolism' 'Familial juvenile hyperuricemic nephropathy type 1' SubClassOf 'Familial cystic renal disease' 'Familial juvenile hyperuricemic nephropathy type 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000608 http://www.orpha.net/ORDO/Orphanet_163956 X-linked intellectual disability, Nascimento type 'X-linked intellectual disability, Nascimento type' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability, Nascimento type' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/CL_0000252 microspore 'microspore' SubClassOf 'part_of' some 'plant reproductive system structure' http://www.orpha.net/ORDO/Orphanet_137678 Czech dysplasia, metatarsal type 'Czech dysplasia, metatarsal type' SubClassOf 'Type 2 collagen-related bone disorder' 'Czech dysplasia, metatarsal type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Czech dysplasia, metatarsal type' SubClassOf 'Type 2 collagen-related bone disorder' 'Czech dysplasia, metatarsal type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Czech dysplasia, metatarsal type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0022800 http://purl.obolibrary.org/obo/CHEBI_41922 diethylstilbestrol 'diethylstilbestrol' SubClassOf 'has_role' some 'antineoplastic agent' http://www.orpha.net/ORDO/Orphanet_137675 Histiocytoid cardiomyopathy 'Histiocytoid cardiomyopathy' SubClassOf 'Genetic cardiac rhythm disease' 'Histiocytoid cardiomyopathy' SubClassOf 'Mitochondrial disease with dilated cardiomyopathy' 'Histiocytoid cardiomyopathy' SubClassOf 'Genetic cardiac rhythm disease' 'Histiocytoid cardiomyopathy' SubClassOf 'Mitochondrial disease with dilated cardiomyopathy' http://purl.obolibrary.org/obo/PO_0009056 flower nectary 'flower nectary' SubClassOf 'flower' 'flower nectary' SubClassOf 'flower' http://www.orpha.net/ORDO/Orphanet_41751 Bietti crystalline dystrophy 'Bietti crystalline dystrophy' SubClassOf 'Familial flecked retinopathy' 'Bietti crystalline dystrophy' SubClassOf 'Familial flecked retinopathy' http://www.orpha.net/ORDO/Orphanet_65743 Autosomal dominant multiple pterygium syndrome 'Autosomal dominant multiple pterygium syndrome' SubClassOf 'Multiple pterygium syndrome' 'Autosomal dominant multiple pterygium syndrome' SubClassOf 'Distal arthrogryposis' 'Autosomal dominant multiple pterygium syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 'Autosomal dominant multiple pterygium syndrome' SubClassOf 'Multiple pterygium syndrome' 'Autosomal dominant multiple pterygium syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 http://www.orpha.net/ORDO/Orphanet_52429 Branchio-otic syndrome 'Branchio-otic syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Branchio-otic syndrome' SubClassOf 'Syndromic genetic deafness' 'Branchio-otic syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Branchio-otic syndrome' SubClassOf 'Syndromic genetic deafness' http://purl.obolibrary.org/obo/CHEBI_16962 cortisone 'cortisone' SubClassOf 'chemical entity' 'cortisone' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_52427 Retinitis punctata albescens 'Retinitis punctata albescens' SubClassOf 'Familial flecked retinopathy' 'Retinitis punctata albescens' SubClassOf 'Fundus albipunctatus' http://purl.obolibrary.org/obo/PO_0009064 receptacle 'receptacle' SubClassOf 'cardinal organ part' 'receptacle' SubClassOf 'cardinal organ part' http://purl.obolibrary.org/obo/PO_0009062 gynoecium 'gynoecium' SubClassOf 'flower' 'gynoecium' SubClassOf 'flower' http://purl.obolibrary.org/obo/CHEBI_16958 beta-alanine 'beta-alanine' SubClassOf 'amino acid' 'beta-alanine' SubClassOf 'amino acid' http://purl.obolibrary.org/obo/CHEBI_27641 cycloheximide 'cycloheximide' SubClassOf 'has_role' some 'antimicrobial agent' http://www.orpha.net/ORDO/Orphanet_52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia 'Inclusion body myopathy with Paget disease of bone and frontotemporal dementia' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'Inclusion body myopathy with Paget disease of bone and frontotemporal dementia' SubClassOf 'Inclusion myopathy' 'Inclusion body myopathy with Paget disease of bone and frontotemporal dementia' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'Inclusion body myopathy with Paget disease of bone and frontotemporal dementia' SubClassOf 'Inclusion myopathy' 'Inclusion body myopathy with Paget disease of bone and frontotemporal dementia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Inclusion body myopathy with Paget disease of bone and frontotemporal dementia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 'Inclusion body myopathy with Paget disease of bone and frontotemporal dementia' SubClassOf 'Frontotemporal dementia' http://www.orpha.net/ORDO/Orphanet_137681 Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 'Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000732 http://purl.obolibrary.org/obo/PO_0009066 anther 'anther' SubClassOf 'stamen' 'anther' SubClassOf 'stamen' http://purl.obolibrary.org/obo/CHEBI_28939 N-acetyl-L-cysteine 'N-acetyl-L-cysteine' SubClassOf 'has_role' some 'antioxidant' 'N-acetyl-L-cysteine' SubClassOf 'has_role' some 'antiviral' http://www.orpha.net/ORDO/Orphanet_163985 Hyperekplexia - epilepsy 'Hyperekplexia - epilepsy' SubClassOf 'Rare genetic movement disorder' 'Hyperekplexia - epilepsy' SubClassOf 'X-linked intellectual disability - epilepsy' 'Hyperekplexia - epilepsy' SubClassOf 'Hereditary hyperekplexia' 'Hyperekplexia - epilepsy' SubClassOf 'Early infantile epileptic encephalopathy' 'Hyperekplexia - epilepsy' SubClassOf 'X-linked intellectual disability - epilepsy' 'Hyperekplexia - epilepsy' SubClassOf 'Syndromic neurometabolic disease with X-linked intellectual disability' http://www.orpha.net/ORDO/Orphanet_163982 X-linked intellectual disability - spastic quadriparesis 'X-linked intellectual disability - spastic quadriparesis' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability - spastic quadriparesis' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/PO_0009074 style 'style' SubClassOf 'carpel' 'style' SubClassOf 'carpel' http://www.orpha.net/ORDO/Orphanet_163976 X-linked intellectual disability, Van Esch type 'X-linked intellectual disability, Van Esch type' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability, Van Esch type' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/PO_0009073 stigma 'stigma' SubClassOf 'part_of' some 'plant reproductive system structure' http://purl.obolibrary.org/obo/PO_0009072 plant ovary 'plant ovary' SubClassOf 'gynoecium' 'plant ovary' SubClassOf 'gynoecium' http://www.orpha.net/ORDO/Orphanet_163979 X-linked intellectual disability - craniofacioskeletal syndrome 'X-linked intellectual disability - craniofacioskeletal syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability - craniofacioskeletal syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/CHEBI_28940 calciol 'calciol' SubClassOf 'has_role' some 'vitamin' http://www.orpha.net/ORDO/Orphanet_391474 Frontorhiny 'Frontorhiny' SubClassOf 'Frontonasal dysplasia' 'Frontorhiny' SubClassOf 'Frontonasal dysplasia' 'Frontorhiny' SubClassOf 'Genetic head and neck malformation' 'Frontorhiny' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015412 http://purl.obolibrary.org/obo/CHEBI_28946 theobromine 'theobromine' SubClassOf 'chemical entity' 'theobromine' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_65720 Arthrogryposis - severe scoliosis 'Arthrogryposis - severe scoliosis' SubClassOf 'Distal arthrogryposis' 'Arthrogryposis - severe scoliosis' SubClassOf 'Distal arthrogryposis' http://www.orpha.net/ORDO/Orphanet_53739 Distal hereditary motor neuropathy 'Distal hereditary motor neuropathy' SubClassOf 'Genetic peripheral neuropathy' 'Distal hereditary motor neuropathy' SubClassOf 'Genetic motor neuron disease' http://www.orpha.net/ORDO/Orphanet_163971 X-linked intellectual disability, Cilliers type 'X-linked intellectual disability, Cilliers type' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability, Cilliers type' SubClassOf 'X-linked syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type 'X-linked dominant chondrodysplasia, Chassaing-Lacombe type' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked dominant chondrodysplasia, Chassaing-Lacombe type' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/PO_0009084 pericarp 'pericarp' SubClassOf 'part_of' some 'fruit' http://purl.obolibrary.org/obo/CHEBI_27622 vanillylmandelate 'vanillylmandelate' SubClassOf 'chemical entity' 'vanillylmandelate' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome 'Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome' SubClassOf 'Immunodeficiency syndrome with autoimmunity' 'Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome' SubClassOf 'malabsorption syndrome' 'Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome' SubClassOf 'Immunodeficiency syndrome with autoimmunity' 'Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017278 'Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019787 'Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome' SubClassOf 'Chronic mucocutaneous candidosis' 'Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome' SubClassOf 'Susceptibility to viral and mycobacterial infections' 'Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017841 http://purl.obolibrary.org/obo/PO_0009089 endosperm 'endosperm' SubClassOf 'seed' 'endosperm' SubClassOf 'seed' http://purl.obolibrary.org/obo/PO_0009088 seed coat 'seed coat' SubClassOf 'seed' 'seed coat' SubClassOf 'seed' http://www.orpha.net/ORDO/Orphanet_293181 Malignant migrating partial seizures of infancy 'Malignant migrating partial seizures of infancy' SubClassOf 'Channelopathy with epilepsy' 'Malignant migrating partial seizures of infancy' SubClassOf 'Neonatal epilepsy syndrome' 'Malignant migrating partial seizures of infancy' SubClassOf 'Channelopathy with epilepsy' 'Malignant migrating partial seizures of infancy' SubClassOf 'Neonatal epilepsy syndrome' http://purl.obolibrary.org/obo/CHEBI_15724 trimethylamine N-oxide 'trimethylamine N-oxide' SubClassOf 'chemical entity' 'trimethylamine N-oxide' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_353217 Epileptic encephalopathy with global cerebral demyelination 'Epileptic encephalopathy with global cerebral demyelination' SubClassOf 'Neonatal epilepsy syndrome' 'Epileptic encephalopathy with global cerebral demyelination' SubClassOf 'Mitochondrial substrate carrier disorder' 'Epileptic encephalopathy with global cerebral demyelination' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Epileptic encephalopathy with global cerebral demyelination' SubClassOf 'Early infantile epileptic encephalopathy' 'Epileptic encephalopathy with global cerebral demyelination' SubClassOf 'Neonatal epilepsy syndrome' 'Epileptic encephalopathy with global cerebral demyelination' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016401 'Epileptic encephalopathy with global cerebral demyelination' SubClassOf 'Mitochondrial substrate carrier disorder' http://www.orpha.net/ORDO/Orphanet_137754 Neurological conditions associated with aminoacylase 1 deficiency 'Neurological conditions associated with aminoacylase 1 deficiency' SubClassOf 'Aminoacylase deficiency' 'Neurological conditions associated with aminoacylase 1 deficiency' SubClassOf 'Neurometabolic disease' 'Neurological conditions associated with aminoacylase 1 deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004736 'Neurological conditions associated with aminoacylase 1 deficiency' SubClassOf 'Aminoacylase deficiency' 'Neurological conditions associated with aminoacylase 1 deficiency' SubClassOf 'Neurometabolic disease' http://purl.obolibrary.org/obo/CL_0000292 guard cell 'guard cell' SubClassOf 'located_in' some 'leaf' http://www.orpha.net/ORDO/Orphanet_353220 Familial primary localized cutaneous amyloidosis 'Familial primary localized cutaneous amyloidosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018798 'Familial primary localized cutaneous amyloidosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018634 'Familial primary localized cutaneous amyloidosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 'Familial primary localized cutaneous amyloidosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015301 'Familial primary localized cutaneous amyloidosis' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0015301 and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) http://www.orpha.net/ORDO/Orphanet_65753 Charcot-Marie-Tooth disease type 1 'Charcot-Marie-Tooth disease type 1' SubClassOf 'Charcot-Marie-Tooth disease' 'Charcot-Marie-Tooth disease type 1' SubClassOf 'Autosomal dominant hereditary demyelinating motor and sensory neuropathy' 'Charcot-Marie-Tooth disease type 1' SubClassOf 'Autosomal dominant hereditary demyelinating motor and sensory neuropathy' http://www.orpha.net/ORDO/Orphanet_316244 Partial deletion of the short arm of chromosome 12 'Partial deletion of the short arm of chromosome 12' SubClassOf 'Partial deletion of chromosome 12' 'Partial deletion of the short arm of chromosome 12' SubClassOf 'Partial deletion of chromosome 12' http://www.ebi.ac.uk/efo/EFO_0007903 magnesium:calcium ratio 'magnesium:calcium ratio' SubClassOf ('is_about' some 'calcium') and ('is_about' some 'magnesium') http://www.ebi.ac.uk/efo/EFO_0007902 hepcidin:transferrin saturation ratio 'hepcidin:transferrin saturation ratio' SubClassOf 'is_about' some 'abnormality of iron homeostasis' 'hepcidin:transferrin saturation ratio' SubClassOf 'is_about' some ('iron' and ('has_role' some 'biomarker')) http://www.ebi.ac.uk/efo/EFO_0007901 hepcidin:ferritin ratio 'hepcidin:ferritin ratio' SubClassOf 'is_about' some ('iron' and ('has_role' some 'biomarker')) 'hepcidin:ferritin ratio' SubClassOf 'is_about' some 'abnormality of iron homeostasis' http://www.orpha.net/ORDO/Orphanet_137776 Lethal congenital contracture syndrome type 2 'Lethal congenital contracture syndrome type 2' SubClassOf 'Lethal congenital contracture syndrome' 'Lethal congenital contracture syndrome type 2' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Lethal congenital contracture syndrome type 2' SubClassOf 'Lethal congenital contracture syndrome' 'Lethal congenital contracture syndrome type 2' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/CHEBI_15738 staurosporine 'staurosporine' SubClassOf 'has_role' some 'protein kinase C inhibitor' http://www.orpha.net/ORDO/Orphanet_316240 Autosomal recessive spastic ataxia 'Autosomal recessive spastic ataxia' SubClassOf 'Spastic ataxia' 'Autosomal recessive spastic ataxia' SubClassOf 'Spastic ataxia' 'Autosomal recessive spastic ataxia' SubClassOf 'Autosomal recessive cerebellar ataxia' http://purl.obolibrary.org/obo/UBERON_6001791 dorsal histoblast nest abdominal 'dorsal histoblast nest abdominal' SubClassOf 'animal developmental tissue' 'dorsal histoblast nest abdominal' SubClassOf http://purl.obolibrary.org/obo/UBERON_6001790 'dorsal histoblast nest abdominal' SubClassOf 'dorsal imaginal precursor' http://www.orpha.net/ORDO/Orphanet_65748 Multiple keratoacanthoma, Ferguson-Smith type 'Multiple keratoacanthoma, Ferguson-Smith type' SubClassOf 'Inherited cancer-predisposing syndrome' 'Multiple keratoacanthoma, Ferguson-Smith type' SubClassOf 'disease has feature' some http://purl.obolibrary.org/obo/MONDO_0020173 'Multiple keratoacanthoma, Ferguson-Smith type' SubClassOf 'disease has feature' some http://purl.obolibrary.org/obo/MONDO_0002527 http://www.orpha.net/ORDO/Orphanet_99103 Atrial septal defect, ostium secundum type 'Atrial septal defect, ostium secundum type' SubClassOf 'atrial heart septal defect' http://www.orpha.net/ORDO/Orphanet_99105 Atrial septal defect, sinus venosus type 'Atrial septal defect, sinus venosus type' SubClassOf 'atrial heart septal defect' http://www.orpha.net/ORDO/Orphanet_99104 Atrial septal defect, coronary sinus type 'Atrial septal defect, coronary sinus type' SubClassOf 'atrial heart septal defect' http://purl.obolibrary.org/obo/UBERON_6001780 ventral thoracic disc 'ventral thoracic disc' SubClassOf http://purl.obolibrary.org/obo/UBERON_0010371 'ventral thoracic disc' SubClassOf http://purl.obolibrary.org/obo/UBERON_0007499 http://www.orpha.net/ORDO/Orphanet_99106 Atrial septal defect, ostium primum type 'Atrial septal defect, ostium primum type' SubClassOf 'atrial heart septal defect' http://www.orpha.net/ORDO/Orphanet_65759 Carpenter syndrome 'Carpenter syndrome' SubClassOf 'Syndromic craniosynostosis' 'Carpenter syndrome' SubClassOf 'Syndromic obesity' 'Carpenter syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000078 'Carpenter syndrome' SubClassOf 'Syndromic obesity' 'Carpenter syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007 http://www.orpha.net/ORDO/Orphanet_137783 Lethal congenital contracture syndrome type 3 'Lethal congenital contracture syndrome type 3' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Lethal congenital contracture syndrome type 3' SubClassOf 'Lethal congenital contracture syndrome' 'Lethal congenital contracture syndrome type 3' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Lethal congenital contracture syndrome type 3' SubClassOf 'Lethal congenital contracture syndrome' http://purl.obolibrary.org/obo/UBERON_6001779 dorsal metathoracic disc 'dorsal metathoracic disc' SubClassOf http://purl.obolibrary.org/obo/UBERON_6001776 http://purl.obolibrary.org/obo/UBERON_6001778 wing disc 'wing disc' SubClassOf http://purl.obolibrary.org/obo/UBERON_6001776 http://www.orpha.net/ORDO/Orphanet_316226 Spastic ataxia 'Spastic ataxia' SubClassOf 'hereditary ataxia' http://www.orpha.net/ORDO/Orphanet_293144 Familial clubfoot due to 5q31 microdeletion 'Familial clubfoot due to 5q31 microdeletion' SubClassOf 'Familial clubfoot with or without associated lower limb anomalies' 'Familial clubfoot due to 5q31 microdeletion' SubClassOf http://purl.obolibrary.org/obo/MONDO_0007342 http://www.ebi.ac.uk/efo/EFO_0007929 triglyceride:HDL cholesterol ratio 'triglyceride:HDL cholesterol ratio' SubClassOf ('is_about' some 'triglyceride') and ('is_about' some 'HDL cholesterol') http://www.ebi.ac.uk/efo/EFO_0007928 ventricular rate measurement 'ventricular rate measurement' SubClassOf 'is_about' some 'QRS complex' http://www.ebi.ac.uk/efo/EFO_0007927 schizophrenia symptom severity measurement 'schizophrenia symptom severity measurement' SubClassOf 'is_about' some 'schizophrenia' http://purl.obolibrary.org/obo/UBERON_6001767 antennal disc 'antennal disc' SubClassOf http://purl.obolibrary.org/obo/UBERON_0007499 'antennal disc' SubClassOf http://purl.obolibrary.org/obo/UBERON_0010371 http://www.orpha.net/ORDO/Orphanet_293150 Familial clubfoot due to PITX1 point mutation 'Familial clubfoot due to PITX1 point mutation' SubClassOf 'Patellar dysostosis' 'Familial clubfoot due to PITX1 point mutation' SubClassOf 'Familial clubfoot with or without associated lower limb anomalies' 'Familial clubfoot due to PITX1 point mutation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0007342 'Familial clubfoot due to PITX1 point mutation' SubClassOf 'Patellar dysostosis' http://www.ebi.ac.uk/efo/EFO_0007911 personality trait measurement 'personality trait measurement' SubClassOf 'is_about' some 'personality trait' http://www.orpha.net/ORDO/Orphanet_316235 Autosomal dominant spastic ataxia 'Autosomal dominant spastic ataxia' SubClassOf 'Spastic ataxia' 'Autosomal dominant spastic ataxia' SubClassOf 'Spastic ataxia' 'Autosomal dominant spastic ataxia' SubClassOf 'Autosomal dominant cerebellar ataxia' http://www.ebi.ac.uk/efo/EFO_0007913 extraversion measurement 'extraversion measurement' SubClassOf 'is_about' some 'extraversion' http://www.orpha.net/ORDO/Orphanet_51188 Ethylmalonic encephalopathy 'Ethylmalonic encephalopathy' SubClassOf 'Unspecified mitochondrial disorder' 'Ethylmalonic encephalopathy' SubClassOf 'Unspecified mitochondrial disorder' http://purl.obolibrary.org/obo/UBERON_0011905 plantaris 'plantaris' SubClassOf 'hindlimb muscle' 'plantaris' SubClassOf 'part_of' some 'zeugopod' 'plantaris' SubClassOf http://purl.obolibrary.org/obo/UBERON_0004256 http://www.orpha.net/ORDO/Orphanet_65798 Goodman syndrome 'Goodman syndrome' SubClassOf 'Syndromic craniosynostosis' 'Goodman syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007 'Goodman syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000078 'Goodman syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'Carpenter syndrome' http://www.ebi.ac.uk/efo/EFO_0007940 chronic venous insufficiency 'chronic venous insufficiency' SubClassOf 'has modifier' some 'chronic' http://www.ebi.ac.uk/efo/EFO_0006613 KMS-12-PE 'KMS-12-PE' SubClassOf 'cancer cell line' 'KMS-12-PE' SubClassOf 'cultured cell' 'KMS-12-PE' SubClassOf 'bearer_of' some 'multiple myeloma' 'KMS-12-PE' SubClassOf 'lymphoma or leukaemia cell line' 'KMS-12-PE' SubClassOf 'has_quality' some 'female' 'KMS-12-PE' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('bone marrow' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0006612 KMS-12-BM 'KMS-12-BM' SubClassOf 'cancer cell line' 'KMS-12-BM' SubClassOf 'bearer_of' some 'multiple myeloma' 'KMS-12-BM' SubClassOf 'lymphoma or leukaemia cell line' 'KMS-12-BM' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('blood' and ('part_of' some 'Homo sapiens')))) 'KMS-12-BM' SubClassOf 'cultured cell' 'KMS-12-BM' SubClassOf 'has_quality' some 'female' http://www.orpha.net/ORDO/Orphanet_293165 Skin fragility-woolly hair-palmoplantar keratoderma syndrome 'Skin fragility-woolly hair-palmoplantar keratoderma syndrome' SubClassOf 'Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature' 'Skin fragility-woolly hair-palmoplantar keratoderma syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018558 'Skin fragility-woolly hair-palmoplantar keratoderma syndrome' SubClassOf 'Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature' http://www.ebi.ac.uk/efo/EFO_0006611 KMM-1 'KMM-1' SubClassOf 'cancer cell line' 'KMM-1' SubClassOf 'has_quality' some 'male' 'KMM-1' SubClassOf 'derives_from' some ('lymphocyte' and ('part_of' some ('blood' and ('part_of' some 'Homo sapiens')))) 'KMM-1' SubClassOf 'cultured cell' 'KMM-1' SubClassOf 'lymphoma or leukaemia cell line' 'KMM-1' SubClassOf 'bearer_of' some 'multiple myeloma' http://www.ebi.ac.uk/efo/EFO_0007942 hip osteoarthritis symptom severity measurement 'hip osteoarthritis symptom severity measurement' SubClassOf 'is_about' some 'osteoarthritis, hip' http://www.ebi.ac.uk/efo/EFO_0006610 KLM-1 'KLM-1' SubClassOf 'bearer_of' some 'pancreatic carcinoma' 'KLM-1' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('pancreas' and ('part_of' some 'Homo sapiens')))) 'KLM-1' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0007941 LDH-related sciatica symptom severity measurement 'LDH-related sciatica symptom severity measurement' SubClassOf ('is_about' some 'Sciatica') and ('is_about' some 'lumbar disc herniation') http://www.ebi.ac.uk/efo/EFO_0007948 HIV-associated neurocognitive disorder 'HIV-associated neurocognitive disorder' SubClassOf 'is_about' some 'HIV infection' http://www.ebi.ac.uk/efo/EFO_0006617 KMS-28BM 'KMS-28BM' SubClassOf 'cancer cell line' 'KMS-28BM' SubClassOf 'cultured cell' 'KMS-28BM' SubClassOf 'has_quality' some 'female' 'KMS-28BM' SubClassOf 'lymphoma or leukaemia cell line' 'KMS-28BM' SubClassOf 'derives_from' some ('lymphocyte' and ('part_of' some ('bone marrow' and ('part_of' some 'Homo sapiens')))) 'KMS-28BM' SubClassOf 'bearer_of' some 'multiple myeloma' http://www.orpha.net/ORDO/Orphanet_293168 Infantile-onset ascending hereditary spastic paralysis 'Infantile-onset ascending hereditary spastic paralysis' SubClassOf 'motor neuron disease' http://www.ebi.ac.uk/efo/EFO_0006616 KMS-27 'KMS-27' SubClassOf 'cancer cell line' 'KMS-27' SubClassOf 'cultured cell' 'KMS-27' SubClassOf 'bearer_of' some 'multiple myeloma' 'KMS-27' SubClassOf 'lymphoma or leukaemia cell line' 'KMS-27' SubClassOf 'derives_from' some ('lymphocyte' and ('part_of' some ('blood' and ('part_of' some 'Homo sapiens')))) 'KMS-27' SubClassOf 'has_quality' some 'male' http://www.ebi.ac.uk/efo/EFO_0007947 serum galactose-deficient IgA1 measurement 'serum galactose-deficient IgA1 measurement' SubClassOf 'is_about' some ('IGA glomerulonephritis' and ('has_role' some 'biomarker')) http://www.ebi.ac.uk/efo/EFO_0006615 KMS-26 'KMS-26' SubClassOf 'cancer cell line' 'KMS-26' SubClassOf 'bearer_of' some 'multiple myeloma' 'KMS-26' SubClassOf 'cultured cell' 'KMS-26' SubClassOf 'derives_from' some ('lymphocyte' and ('part_of' some ('blood' and ('part_of' some 'Homo sapiens')))) 'KMS-26' SubClassOf 'has_quality' some 'male' 'KMS-26' SubClassOf 'lymphoma or leukaemia cell line' http://www.ebi.ac.uk/efo/EFO_0006614 KMS-21-BM 'KMS-21-BM' SubClassOf 'cancer cell line' 'KMS-21-BM' SubClassOf 'derives_from' some ('lymphocyte' and ('part_of' some ('blood' and ('part_of' some 'Homo sapiens')))) 'KMS-21-BM' SubClassOf 'bearer_of' some 'multiple myeloma' 'KMS-21-BM' SubClassOf 'has_quality' some 'male' 'KMS-21-BM' SubClassOf 'cultured cell' 'KMS-21-BM' SubClassOf 'lymphoma or leukaemia cell line' http://www.ebi.ac.uk/efo/EFO_0007945 agoraphobia symptom measurement 'agoraphobia symptom measurement' SubClassOf 'is_about' some 'agoraphobia' http://www.ebi.ac.uk/efo/EFO_0006619 KMS-34 'KMS-34' SubClassOf 'cancer cell line' 'KMS-34' SubClassOf 'has_quality' some 'female' 'KMS-34' SubClassOf 'cultured cell' 'KMS-34' SubClassOf 'derives_from' some ('lymphocyte' and ('part_of' some ('blood' and ('part_of' some 'Homo sapiens')))) 'KMS-34' SubClassOf 'bearer_of' some 'multiple myeloma' 'KMS-34' SubClassOf 'lymphoma or leukaemia cell line' http://www.ebi.ac.uk/efo/EFO_0006618 KMS-28PE 'KMS-28PE' SubClassOf 'cancer cell line' 'KMS-28PE' SubClassOf 'has_quality' some 'female' 'KMS-28PE' SubClassOf 'bearer_of' some 'multiple myeloma' 'KMS-28PE' SubClassOf 'lymphoma or leukaemia cell line' 'KMS-28PE' SubClassOf 'cultured cell' 'KMS-28PE' SubClassOf 'derives_from' some ('lymphocyte' and ('part_of' some ('blood' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0007949 acute-on-chronic liver failure 'acute-on-chronic liver failure' SubClassOf ('phenotype of' some 'chronic hepatitis B infection') and ('has_disease_location' some 'liver') http://www.orpha.net/ORDO/Orphanet_353277 Rubinstein-Taybi syndrome due to CREBBP mutations 'Rubinstein-Taybi syndrome due to CREBBP mutations' SubClassOf 'Rubinstein-Taybi syndrome' 'Rubinstein-Taybi syndrome due to CREBBP mutations' SubClassOf 'Rubinstein-Taybi syndrome' http://www.ebi.ac.uk/efo/EFO_0006602 JHH-5 'JHH-5' SubClassOf 'bearer_of' some 'hepatocellular carcinoma' 'JHH-5' SubClassOf 'has_quality' some 'male' 'JHH-5' SubClassOf 'cultured cell' 'JHH-5' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('liver' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0006601 JHH-4 'JHH-4' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('liver' and ('part_of' some 'Homo sapiens')))) 'JHH-4' SubClassOf 'has_quality' some 'male' 'JHH-4' SubClassOf 'cultured cell' 'JHH-4' SubClassOf 'bearer_of' some 'hepatocellular carcinoma' http://www.ebi.ac.uk/efo/EFO_0007932 mulitple keratinocyte carcinoma susceptibility measurement 'mulitple keratinocyte carcinoma susceptibility measurement' SubClassOf ('is_about' some 'squamous cell carcinoma') or ('is_about' some 'basal cell carcinoma') http://www.ebi.ac.uk/efo/EFO_0006600 JHH-2 'JHH-2' SubClassOf 'bearer_of' some 'hepatocellular carcinoma' 'JHH-2' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('liver' and ('part_of' some 'Homo sapiens')))) 'JHH-2' SubClassOf 'cultured cell' 'JHH-2' SubClassOf 'has_quality' some 'male' http://www.ebi.ac.uk/efo/EFO_0007931 non-HDL cholesterol:HDL cholesterol ratio 'non-HDL cholesterol:HDL cholesterol ratio' SubClassOf 'is_about' some 'HDL cholesterol' http://www.ebi.ac.uk/efo/EFO_0007930 LDL cholesterol:HDL cholesterol ratio 'LDL cholesterol:HDL cholesterol ratio' SubClassOf ('is_about' some 'HDL cholesterol') and ('is_about' some 'LDL cholesterol') http://www.ebi.ac.uk/efo/EFO_0006606 KARPAS 1106P 'KARPAS 1106P' SubClassOf 'cancer cell line' 'KARPAS 1106P' SubClassOf 'cultured cell' 'KARPAS 1106P' SubClassOf 'derives_from' some ('lymphoblast' and ('part_of' some ('blood' and ('part_of' some 'Homo sapiens')))) 'KARPAS 1106P' SubClassOf 'lymphoma or leukaemia cell line' 'KARPAS 1106P' SubClassOf 'has_quality' some 'female' 'KARPAS 1106P' SubClassOf 'bearer_of' some 'neoplasm of mature B-cells' http://www.ebi.ac.uk/efo/EFO_0007937 blood protein measurement 'blood protein measurement' SubClassOf 'is_about' some 'protein' http://www.orpha.net/ORDO/Orphanet_208508 Autosomal dominant cerebellar ataxia type 2 'Autosomal dominant cerebellar ataxia type 2' SubClassOf 'Autosomal dominant cerebellar ataxia' 'Autosomal dominant cerebellar ataxia type 2' SubClassOf 'Autosomal dominant cerebellar ataxia' http://www.ebi.ac.uk/efo/EFO_0006605 JJN-3 'JJN-3' SubClassOf 'cancer cell line' 'JJN-3' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('blood' and ('part_of' some 'Homo sapiens')))) 'JJN-3' SubClassOf 'lymphoma or leukaemia cell line' 'JJN-3' SubClassOf 'cultured cell' 'JJN-3' SubClassOf 'has_quality' some 'female' 'JJN-3' SubClassOf 'bearer_of' some 'plasma cell leukemia' http://www.ebi.ac.uk/efo/EFO_0006604 JJ012 'JJ012' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('cartilage' and ('part_of' some 'Homo sapiens')))) 'JJ012' SubClassOf 'bearer_of' some 'chondrosarcoma' 'JJ012' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0006603 JHH-7 'JHH-7' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('liver' and ('part_of' some 'Homo sapiens')))) 'JHH-7' SubClassOf 'has_quality' some 'male' 'JHH-7' SubClassOf 'cultured cell' 'JHH-7' SubClassOf 'bearer_of' some 'hepatocellular carcinoma' http://www.ebi.ac.uk/efo/EFO_0007934 creatinine clearance measurement 'creatinine clearance measurement' SubClassOf 'is_about' some 'renal system' 'creatinine clearance measurement' SubClassOf 'is_about' some 'kidney disease' http://www.ebi.ac.uk/efo/EFO_0006609 KHM-1B 'KHM-1B' SubClassOf 'cancer cell line' 'KHM-1B' SubClassOf 'has_quality' some 'male' 'KHM-1B' SubClassOf 'cultured cell' 'KHM-1B' SubClassOf 'bearer_of' some 'multiple myeloma' 'KHM-1B' SubClassOf 'lymphoma or leukaemia cell line' 'KHM-1B' SubClassOf 'derives_from' some ('lymphocyte' and ('part_of' some ('blood' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0006608 KCI-MOH1 'KCI-MOH1' SubClassOf 'bearer_of' some 'pancreatic carcinoma' 'KCI-MOH1' SubClassOf 'has_quality' some 'male' 'KCI-MOH1' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('pancreas' and ('part_of' some 'Homo sapiens')))) 'KCI-MOH1' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0006607 Kasumi-1 'Kasumi-1' SubClassOf 'has_quality' some 'male' 'Kasumi-1' SubClassOf 'bearer_of' some 'acute myeloid leukemia' 'Kasumi-1' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('blood' and ('part_of' some 'Homo sapiens')))) 'Kasumi-1' SubClassOf 'cultured cell' http://purl.obolibrary.org/obo/UBERON_0009616 presumptive midbrain 'presumptive midbrain' SubClassOf 'develops_from' some 'primordium' 'presumptive midbrain' SubClassOf http://purl.obolibrary.org/obo/UBERON_0006598 'presumptive midbrain' SubClassOf 'part_of' some 'embryo' 'presumptive midbrain' SubClassOf 'develops_from' some 'nervous system' 'presumptive midbrain' SubClassOf 'develops_from' some 'neural rod' http://www.orpha.net/ORDO/Orphanet_281190 Congenital reticular ichthyosiform erythroderma 'Congenital reticular ichthyosiform erythroderma' SubClassOf 'Inherited non-syndromic ichthyosis' 'Congenital reticular ichthyosiform erythroderma' SubClassOf 'Inherited non-syndromic ichthyosis' http://www.orpha.net/ORDO/Orphanet_353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 'Rubinstein-Taybi syndrome due to EP300 haploinsufficiency' SubClassOf 'Rubinstein-Taybi syndrome' 'Rubinstein-Taybi syndrome due to EP300 haploinsufficiency' SubClassOf 'Rubinstein-Taybi syndrome' http://www.orpha.net/ORDO/Orphanet_353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion 'Rubinstein-Taybi syndrome due to 16p13.3 microdeletion' SubClassOf 'Rubinstein-Taybi syndrome' 'Rubinstein-Taybi syndrome due to 16p13.3 microdeletion' SubClassOf 'Rubinstein-Taybi syndrome' 'Rubinstein-Taybi syndrome due to 16p13.3 microdeletion' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000761 'Rubinstein-Taybi syndrome due to 16p13.3 microdeletion' SubClassOf 'Partial deletion of the short arm of chromosome 16' http://purl.obolibrary.org/obo/UBERON_6001734 larval labral segment 'larval labral segment' SubClassOf http://purl.obolibrary.org/obo/UBERON_6001733 'larval labral segment' SubClassOf http://purl.obolibrary.org/obo/UBERON_6000008 http://www.ebi.ac.uk/efo/EFO_0006631 KYSE-510 'KYSE-510' SubClassOf 'has_quality' some 'female' 'KYSE-510' SubClassOf 'cultured cell' 'KYSE-510' SubClassOf 'bearer_of' some 'esophageal squamous cell carcinoma' 'KYSE-510' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('esophagus' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0006630 KYSE-450 'KYSE-450' SubClassOf 'bearer_of' some 'esophageal squamous cell carcinoma' 'KYSE-450' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('esophagus' and ('part_of' some 'Homo sapiens')))) 'KYSE-450' SubClassOf 'cultured cell' 'KYSE-450' SubClassOf 'has_quality' some 'male' http://www.ebi.ac.uk/efo/EFO_0007960 organochlorine pesticide measurement 'organochlorine pesticide measurement' EquivalentTo 'measurement' and ('is_about' some 'organochlorine pesticides') http://www.orpha.net/ORDO/Orphanet_400008 Rare genetic female infertility 'Rare genetic female infertility' SubClassOf 'has_disease_location' some 'female reproductive system' http://www.ebi.ac.uk/efo/EFO_0005303 sudden infant death syndrome 'sudden infant death syndrome' SubClassOf 'disease' 'sudden infant death syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003847 'sudden infant death syndrome' SubClassOf ('part_of' some 'infant') and ('has phenotype' some 'dead') 'sudden infant death syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 http://www.ebi.ac.uk/efo/EFO_0006635 LCLC-97TM1 'LCLC-97TM1' SubClassOf 'has_quality' some 'male' 'LCLC-97TM1' SubClassOf 'bearer_of' some 'large cell lung carcinoma' 'LCLC-97TM1' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) 'LCLC-97TM1' SubClassOf 'cultured cell' http://purl.obolibrary.org/obo/HP_0000957 Cafe-au-lait spot 'Cafe-au-lait spot' SubClassOf 'abnormality of the skin' 'Cafe-au-lait spot' SubClassOf 'abnormality of the skin' http://www.ebi.ac.uk/efo/EFO_0005304 atrial conduction disease 'atrial conduction disease' SubClassOf 'conduction system disorder' 'atrial conduction disease' SubClassOf 'conduction system disorder' 'atrial conduction disease' SubClassOf 'Genetic cardiac rhythm disease' http://www.ebi.ac.uk/efo/EFO_0006634 LCLC-103H 'LCLC-103H' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) 'LCLC-103H' SubClassOf 'bearer_of' some 'large cell lung carcinoma' 'LCLC-103H' SubClassOf 'has_quality' some 'male' 'LCLC-103H' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0006633 KYSE-70 'KYSE-70' SubClassOf 'has_quality' some 'male' 'KYSE-70' SubClassOf 'bearer_of' some 'esophageal squamous cell carcinoma' 'KYSE-70' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('esophagus' and ('part_of' some 'Homo sapiens')))) 'KYSE-70' SubClassOf 'cultured cell' http://www.orpha.net/ORDO/Orphanet_400003 Rare genetic disorder with obstructive azoospermia 'Rare genetic disorder with obstructive azoospermia' SubClassOf 'Male infertility due to obstructive azoospermia of genetic origin' 'Rare genetic disorder with obstructive azoospermia' SubClassOf 'Male infertility due to obstructive azoospermia of genetic origin' http://www.ebi.ac.uk/efo/EFO_0005302 ChIP-exo 'ChIP-exo' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) 'ChIP-exo' SubClassOf 'has_participant' some 'high throughput sequencer' http://www.ebi.ac.uk/efo/EFO_0006632 KYSE-520 'KYSE-520' SubClassOf 'bearer_of' some 'esophageal squamous cell carcinoma' 'KYSE-520' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('esophagus' and ('part_of' some 'Homo sapiens')))) 'KYSE-520' SubClassOf 'cultured cell' 'KYSE-520' SubClassOf 'has_quality' some 'female' http://www.ebi.ac.uk/efo/EFO_0007963 abnormal paneth cell measurement 'abnormal paneth cell measurement' SubClassOf 'is_about' some 'paneth cell' http://www.ebi.ac.uk/efo/EFO_0005307 torsades de pointes 'torsades de pointes' SubClassOf 'ventricular tachycardia' 'torsades de pointes' SubClassOf 'ventricular tachycardia' http://www.ebi.ac.uk/efo/EFO_0006639 LoVo 'LoVo' SubClassOf 'cancer cell line' 'LoVo' SubClassOf 'cultured cell' 'LoVo' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('colon' and ('part_of' some 'Homo sapiens')))) 'LoVo' SubClassOf 'has_quality' some 'male' 'LoVo' SubClassOf 'colorectal cancer cell line' 'LoVo' SubClassOf 'bearer_of' some 'colorectal adenocarcinoma' http://purl.obolibrary.org/obo/NCBITaxon_755351 Vitis vinifera subsp. silvestris 'Vitis vinifera subsp. silvestris' SubClassOf 'Vitis vinifera' 'Vitis vinifera subsp. silvestris' SubClassOf 'Vitis vinifera' http://www.ebi.ac.uk/efo/EFO_0005308 atrial tachycardia 'atrial tachycardia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0007263 http://www.ebi.ac.uk/efo/EFO_0006638 LOU-NH91 'LOU-NH91' SubClassOf 'has_quality' some 'female' 'LOU-NH91' SubClassOf 'bearer_of' some 'squamous cell lung carcinoma' 'LOU-NH91' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) 'LOU-NH91' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0007969 cognitive inhibition measurement 'cognitive inhibition measurement' SubClassOf 'is_about' some 'attention deficit hyperactivity disorder' 'cognitive inhibition measurement' SubClassOf 'is_about' some 'executive function' http://purl.obolibrary.org/obo/HP_0000954 Single transverse palmar crease 'Single transverse palmar crease' SubClassOf 'abnormality of the skin' 'Single transverse palmar crease' SubClassOf 'abnormality of the skin' http://www.ebi.ac.uk/efo/EFO_0005305 atrioventricular node disease 'atrioventricular node disease' SubClassOf 'conduction system disorder' 'atrioventricular node disease' SubClassOf 'has_disease_location' some 'atrioventricular node' 'atrioventricular node disease' SubClassOf 'conduction system disorder' http://www.ebi.ac.uk/efo/EFO_0006637 LN-229 'LN-229' SubClassOf 'cultured cell' 'LN-229' SubClassOf 'has_quality' some 'female' 'LN-229' SubClassOf 'bearer_of' some 'brain glioblastoma' 'LN-229' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('brain' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0005306 ventricular tachycardia 'ventricular tachycardia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0007263 http://www.ebi.ac.uk/efo/EFO_0006636 LN-18 'LN-18' SubClassOf 'has_quality' some 'male' 'LN-18' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('brain' and ('part_of' some 'Homo sapiens')))) 'LN-18' SubClassOf 'cultured cell' 'LN-18' SubClassOf 'bearer_of' some 'brain glioblastoma' http://www.orpha.net/ORDO/Orphanet_281122 Self-healing collodion baby 'Self-healing collodion baby' SubClassOf 'Autosomal recessive congenital ichthyosis' 'Self-healing collodion baby' SubClassOf 'Autosomal recessive congenital ichthyosis' http://www.orpha.net/ORDO/Orphanet_268145 Classic maple syrup urine disease 'Classic maple syrup urine disease' SubClassOf 'Maple syrup urine disease' 'Classic maple syrup urine disease' SubClassOf 'Maple syrup urine disease' http://www.orpha.net/ORDO/Orphanet_281127 Acral self-healing collodion baby 'Acral self-healing collodion baby' SubClassOf 'Autosomal recessive congenital ichthyosis' 'Acral self-healing collodion baby' SubClassOf 'Autosomal recessive congenital ichthyosis' http://www.ebi.ac.uk/efo/EFO_0006620 KNS-62 'KNS-62' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) 'KNS-62' SubClassOf 'cultured cell' 'KNS-62' SubClassOf 'bearer_of' some 'non-small cell lung carcinoma' 'KNS-62' SubClassOf 'has_quality' some 'male' http://www.ebi.ac.uk/efo/EFO_0007951 hFib2-iPS4 'hFib2-iPS4' SubClassOf 'has_quality' some 'male' 'hFib2-iPS4' SubClassOf 'derives_from' some ('induced pluripotent stem cell' and ('part_of' some ('skin of body' and ('part_of' some 'Homo sapiens')))) 'hFib2-iPS4' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0007950 GM23338 'GM23338' SubClassOf 'has_quality' some 'male' 'GM23338' SubClassOf 'derives_from' some ('induced pluripotent stem cell' and ('part_of' some ('skin of body' and ('part_of' some 'Homo sapiens')))) 'GM23338' SubClassOf 'cultured cell' http://purl.obolibrary.org/obo/CLO_0020019 GM11840 'GM11840' SubClassOf 'cultured cell' 'GM11840' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM11840' SubClassOf 'has_quality' some 'female' http://www.ebi.ac.uk/efo/EFO_0006624 KPL-4 'KPL-4' SubClassOf 'cancer cell line' 'KPL-4' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('breast' and ('part_of' some 'Homo sapiens')))) 'KPL-4' SubClassOf 'cultured cell' 'KPL-4' SubClassOf 'has_quality' some 'female' 'KPL-4' SubClassOf 'breast adenocarcinoma cell line' 'KPL-4' SubClassOf 'bearer_of' some 'breast ductal adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0006623 KP-4 'KP-4' SubClassOf 'cancer cell line' 'KP-4' SubClassOf 'breast adenocarcinoma cell line' 'KP-4' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('pancreas' and ('part_of' some 'Homo sapiens')))) 'KP-4' SubClassOf 'has_quality' some 'male' 'KP-4' SubClassOf 'bearer_of' some 'pancreatic ductal adenocarcinoma' 'KP-4' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0006622 KP-3 'KP-3' SubClassOf 'bearer_of' some 'pancreatic adenosquamous carcinoma' 'KP-3' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('pancreas' and ('part_of' some 'Homo sapiens')))) 'KP-3' SubClassOf 'cultured cell' 'KP-3' SubClassOf 'has_quality' some 'male' http://www.ebi.ac.uk/efo/EFO_0007953 iPS-NIHi7 'iPS-NIHi7' SubClassOf 'derives_from' some ('induced pluripotent stem cell' and ('part_of' some ('skin of body' and ('part_of' some 'Homo sapiens')))) 'iPS-NIHi7' SubClassOf 'has_quality' some 'female' 'iPS-NIHi7' SubClassOf 'bearer_of' some 'Parkinson's disease' 'iPS-NIHi7' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0006621 KP-2 'KP-2' SubClassOf 'cultured cell' 'KP-2' SubClassOf 'bearer_of' some 'pancreatic carcinoma' 'KP-2' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('pancreas' and ('part_of' some 'Homo sapiens')))) 'KP-2' SubClassOf 'has_quality' some 'male' http://www.ebi.ac.uk/efo/EFO_0007952 iPS-NIHi11 'iPS-NIHi11' SubClassOf 'has_quality' some 'male' 'iPS-NIHi11' SubClassOf 'bearer_of' some 'Parkinson's disease' 'iPS-NIHi11' SubClassOf 'derives_from' some ('induced pluripotent stem cell' and ('part_of' some ('skin of body' and ('part_of' some 'Homo sapiens')))) 'iPS-NIHi11' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0006628 KYSE-180 'KYSE-180' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('esophagus' and ('part_of' some 'Homo sapiens')))) 'KYSE-180' SubClassOf 'bearer_of' some 'esophageal squamous cell carcinoma' 'KYSE-180' SubClassOf 'cultured cell' 'KYSE-180' SubClassOf 'has_quality' some 'male' http://purl.obolibrary.org/obo/HP_0000964 Eczema 'Eczema' EquivalentTo 'has part' some ('having extra processual parts' and ('inheres_in' some 'blood vessel') and ('towards' some 'skin of body')) http://www.ebi.ac.uk/efo/EFO_0006627 KYSE-150 'KYSE-150' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('esophagus' and ('part_of' some 'Homo sapiens')))) 'KYSE-150' SubClassOf 'has_quality' some 'female' 'KYSE-150' SubClassOf 'bearer_of' some 'esophageal squamous cell carcinoma' 'KYSE-150' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0006626 KYSE-140 'KYSE-140' SubClassOf 'cultured cell' 'KYSE-140' SubClassOf 'bearer_of' some 'esophageal squamous cell carcinoma' 'KYSE-140' SubClassOf 'has_quality' some 'male' 'KYSE-140' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('esophagus' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0006625 KURAMOCHI 'KURAMOCHI' SubClassOf 'bearer_of' some 'ovarian carcinoma' 'KURAMOCHI' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('female gonad' and ('part_of' some 'Homo sapiens')))) 'KURAMOCHI' SubClassOf 'has_quality' some 'female' 'KURAMOCHI' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0007956 monocyte:lymphocyte ratio 'monocyte:lymphocyte ratio' SubClassOf ('is_about' some 'lymphocyte') and ('is_about' some 'monocyte') http://www.orpha.net/ORDO/Orphanet_99169 Epiblepharon 'Epiblepharon' SubClassOf 'Eyelids malposition disorder' 'Epiblepharon' SubClassOf 'Eyelids malposition disorder' http://www.ebi.ac.uk/efo/EFO_0006629 KYSE-270 'KYSE-270' SubClassOf 'has_quality' some 'male' 'KYSE-270' SubClassOf 'bearer_of' some 'esophageal squamous cell carcinoma' 'KYSE-270' SubClassOf 'cultured cell' 'KYSE-270' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('esophagus' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/CHEBI_9588 ticlopidine 'ticlopidine' SubClassOf 'has_role' some 'drug role' http://www.orpha.net/ORDO/Orphanet_281139 Annular epidermolytic ichthyosis 'Annular epidermolytic ichthyosis' SubClassOf 'Keratinopathic ichthyosis' 'Annular epidermolytic ichthyosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020702 http://www.ebi.ac.uk/efo/EFO_0005321 molar-incisor hypomineralization 'molar-incisor hypomineralization' SubClassOf 'head and neck disorder' 'molar-incisor hypomineralization' SubClassOf http://purl.obolibrary.org/obo/MONDO_0005042 http://www.ebi.ac.uk/efo/EFO_0006653 MOLP-2 'MOLP-2' SubClassOf 'cancer cell line' 'MOLP-2' SubClassOf 'has_quality' some 'male' 'MOLP-2' SubClassOf 'cultured cell' 'MOLP-2' SubClassOf 'bearer_of' some 'multiple myeloma' 'MOLP-2' SubClassOf 'lymphoma or leukaemia cell line' 'MOLP-2' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('blood' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0007984 platelet component distribution width 'platelet component distribution width' SubClassOf 'is_about' some 'blood component' 'platelet component distribution width' SubClassOf 'is_about' some 'platelet' 'platelet component distribution width' SubClassOf 'is_about' some 'blood cell' http://www.ebi.ac.uk/efo/EFO_0006652 MOLM-16 'MOLM-16' SubClassOf 'bearer_of' some 'acute myeloid leukemia' 'MOLM-16' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('blood' and ('part_of' some 'Homo sapiens')))) 'MOLM-16' SubClassOf 'cultured cell' 'MOLM-16' SubClassOf 'has_quality' some 'female' http://www.ebi.ac.uk/efo/EFO_0006651 MHH-NB-11 'MHH-NB-11' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('brain' and ('part_of' some 'Homo sapiens')))) 'MHH-NB-11' SubClassOf 'cultured cell' 'MHH-NB-11' SubClassOf 'bearer_of' some 'neuroblastoma' 'MHH-NB-11' SubClassOf 'has_quality' some 'male' http://www.ebi.ac.uk/efo/EFO_0005320 contact dermatitis due to nickel 'contact dermatitis due to nickel' SubClassOf 'contact dermatitis' 'contact dermatitis due to nickel' SubClassOf 'contact dermatitis' http://www.ebi.ac.uk/efo/EFO_0006650 MHH-ES-1 'MHH-ES-1' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('bone' and ('part_of' some 'Homo sapiens')))) 'MHH-ES-1' SubClassOf 'has_quality' some 'male' 'MHH-ES-1' SubClassOf 'bearer_of' some 'Ewing sarcoma' 'MHH-ES-1' SubClassOf 'cultured cell' http://purl.obolibrary.org/obo/HP_0000978 Bruising susceptibility 'Bruising susceptibility' SubClassOf 'Subcutaneous hemorrhage' 'Bruising susceptibility' SubClassOf 'Subcutaneous hemorrhage' http://www.ebi.ac.uk/efo/EFO_0005325 response to angiotensin-converting enzyme inhibitor 'response to angiotensin-converting enzyme inhibitor' SubClassOf 'is_about' some 'angiotensin-converting enzyme inhibitor' http://www.ebi.ac.uk/efo/EFO_0006657 NCI-H1373 'NCI-H1373' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) 'NCI-H1373' SubClassOf 'bearer_of' some 'lung adenocarcinoma' 'NCI-H1373' SubClassOf 'cultured cell' 'NCI-H1373' SubClassOf 'has_quality' some 'male' http://www.ebi.ac.uk/efo/EFO_0007988 myeloid white cell count 'myeloid white cell count' SubClassOf 'is_about' some 'myeloid leukocyte' http://purl.obolibrary.org/obo/HP_0000979 Purpura 'Purpura' SubClassOf 'Subcutaneous hemorrhage' 'Purpura' SubClassOf 'Subcutaneous hemorrhage' http://www.ebi.ac.uk/efo/EFO_0007987 granulocyte count 'granulocyte count' SubClassOf 'is_about' some 'granulocyte' http://www.ebi.ac.uk/efo/EFO_0006656 mPAC L20 'mPAC L20' SubClassOf 'cancer cell line' 'mPAC L20' SubClassOf 'breast adenocarcinoma cell line' 'mPAC L20' SubClassOf 'bearer_of' some 'pancreatic ductal adenocarcinoma' 'mPAC L20' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('pancreas' and ('part_of' some 'Mus musculus')))) 'mPAC L20' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0006655 MOR 'MOR' SubClassOf 'bearer_of' some 'lung adenocarcinoma' 'MOR' SubClassOf 'cultured cell' 'MOR' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0007986 reticulocyte count 'reticulocyte count' SubClassOf 'is_about' some 'reticulocyte' http://www.ebi.ac.uk/efo/EFO_0006654 MOLP-8 'MOLP-8' SubClassOf 'cancer cell line' 'MOLP-8' SubClassOf 'cultured cell' 'MOLP-8' SubClassOf 'has_quality' some 'male' 'MOLP-8' SubClassOf 'bearer_of' some 'multiple myeloma' 'MOLP-8' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('blood' and ('part_of' some 'Homo sapiens')))) 'MOLP-8' SubClassOf 'lymphoma or leukaemia cell line' http://www.ebi.ac.uk/efo/EFO_0007985 platelet crit 'platelet crit' SubClassOf 'is_about' some 'platelet' 'platelet crit' SubClassOf 'is_about' some 'blood cell' 'platelet crit' SubClassOf 'is_about' some 'blood component' http://purl.obolibrary.org/obo/CHEBI_76616 3-hydroxylaurate '3-hydroxylaurate' SubClassOf 'lipid' '3-hydroxylaurate' SubClassOf 'lipid' http://www.ebi.ac.uk/efo/EFO_0006659 NCI-H146 'NCI-H146' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) 'NCI-H146' SubClassOf 'has_quality' some 'male' 'NCI-H146' SubClassOf 'bearer_of' some 'small cell lung carcinoma' 'NCI-H146' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0006658 NCI-H1435 'NCI-H1435' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) 'NCI-H1435' SubClassOf 'cultured cell' 'NCI-H1435' SubClassOf 'bearer_of' some 'non-small cell lung carcinoma' 'NCI-H1435' SubClassOf 'has_quality' some 'female' http://www.orpha.net/ORDO/Orphanet_268129 Spheroid body myopathy 'Spheroid body myopathy' SubClassOf 'Myofibrillar myopathy' 'Spheroid body myopathy' SubClassOf 'Qualitative or quantitative defects of myotilin' 'Spheroid body myopathy' SubClassOf 'Myofibrillar myopathy' 'Spheroid body myopathy' SubClassOf 'Qualitative or quantitative defects of myotilin' http://www.orpha.net/ORDO/Orphanet_99177 Isolated distichiasis 'Isolated distichiasis' SubClassOf 'Eyebrow/eyelashes distichiasis' 'Isolated distichiasis' SubClassOf 'Eyebrow/eyelashes distichiasis' http://www.orpha.net/ORDO/Orphanet_99179 Kandori fleck retina 'Kandori fleck retina' SubClassOf 'Familial flecked retinopathy' 'Kandori fleck retina' SubClassOf 'Familial flecked retinopathy' http://www.orpha.net/ORDO/Orphanet_99170 Tarsal kink syndrome 'Tarsal kink syndrome' SubClassOf 'Congenital entropion' 'Tarsal kink syndrome' SubClassOf 'Congenital entropion' http://www.orpha.net/ORDO/Orphanet_99172 Euryblepharon 'Euryblepharon' SubClassOf 'Congenital ectropion' 'Euryblepharon' SubClassOf 'Congenital ectropion' http://www.orpha.net/ORDO/Orphanet_99171 Isolated congenital ectropion 'Isolated congenital ectropion' SubClassOf 'Congenital ectropion' 'Isolated congenital ectropion' SubClassOf 'Congenital ectropion' 'Isolated congenital ectropion' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021128 'Isolated congenital ectropion' EquivalentTo 'Congenital ectropion' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021128) http://www.orpha.net/ORDO/Orphanet_99176 Congenital eyelid retraction 'Congenital eyelid retraction' SubClassOf 'Congenital upper palpebral retraction' 'Congenital eyelid retraction' SubClassOf 'Congenital upper palpebral retraction' http://www.ebi.ac.uk/efo/EFO_0006642 LXFL529 'LXFL529' SubClassOf 'bearer_of' some 'non-small cell lung carcinoma' 'LXFL529' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) 'LXFL529' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0006641 LXF-289 'LXF-289' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) 'LXF-289' SubClassOf 'has_quality' some 'male' 'LXF-289' SubClassOf 'bearer_of' some 'lung adenocarcinoma' 'LXF-289' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0006640 LS 180 'LS 180' SubClassOf 'cancer cell line' 'LS 180' SubClassOf 'has_quality' some 'female' 'LS 180' SubClassOf 'cultured cell' 'LS 180' SubClassOf 'colorectal cancer cell line' 'LS 180' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('colon' and ('part_of' some 'Homo sapiens')))) 'LS 180' SubClassOf 'bearer_of' some 'colorectal adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0006646 ME-180 'ME-180' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('uterine cervix' and ('part_of' some 'Homo sapiens')))) 'ME-180' SubClassOf 'has_quality' some 'female' 'ME-180' SubClassOf 'bearer_of' some 'squamous cell carcinoma' 'ME-180' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0006645 ME-1 'ME-1' SubClassOf 'has_quality' some 'male' 'ME-1' SubClassOf 'cultured cell' 'ME-1' SubClassOf 'bearer_of' some 'acute myeloid leukemia' 'ME-1' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('blood' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0006644 MDST8 'MDST8' SubClassOf 'cancer cell line' 'MDST8' SubClassOf 'bearer_of' some 'colorectal adenocarcinoma' 'MDST8' SubClassOf 'colorectal cancer cell line' 'MDST8' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('colon' and ('part_of' some 'Homo sapiens')))) 'MDST8' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0006643 MCF10DCIS.COM 'MCF10DCIS.COM' SubClassOf 'cultured cell' 'MCF10DCIS.COM' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('breast' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0005318 axial length measurement 'axial length measurement' SubClassOf 'is_about' some 'eye' http://www.ebi.ac.uk/efo/EFO_0005319 contact dermatitis 'contact dermatitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002406 http://www.ebi.ac.uk/efo/EFO_0006649 MFM-223 'MFM-223' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('breast' and ('part_of' some 'Homo sapiens')))) 'MFM-223' SubClassOf 'cultured cell' 'MFM-223' SubClassOf 'has_quality' some 'female' 'MFM-223' SubClassOf 'bearer_of' some 'breast adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0006648 MeWo 'MeWo' SubClassOf 'derives_from' some ('fibroblast' and ('part_of' some ('zone of skin' and ('part_of' some 'Homo sapiens')))) 'MeWo' SubClassOf 'cultured cell' 'MeWo' SubClassOf 'bearer_of' some 'melanoma' 'MeWo' SubClassOf 'has_quality' some 'male' http://www.ebi.ac.uk/efo/EFO_0007979 childhood trauma measurement 'childhood trauma measurement' SubClassOf 'is_about' some 'mental or behavioural disorder' http://www.ebi.ac.uk/efo/EFO_0006647 MEL-HO 'MEL-HO' SubClassOf 'has_quality' some 'female' 'MEL-HO' SubClassOf 'cultured cell' 'MEL-HO' SubClassOf 'bearer_of' some 'melanoma' 'MEL-HO' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('zone of skin' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0007978 red blood cell density measurement 'red blood cell density measurement' SubClassOf 'is_about' some 'erythrocyte' http://www.orpha.net/ORDO/Orphanet_268114 RAS-associated autoimmune leukoproliferative disease 'RAS-associated autoimmune leukoproliferative disease' SubClassOf 'Immunodeficiency syndrome with autoimmunity' 'RAS-associated autoimmune leukoproliferative disease' SubClassOf 'Lymphoproliferative syndrome' 'RAS-associated autoimmune leukoproliferative disease' SubClassOf 'Autoimmune lymphoproliferative syndrome' http://www.ebi.ac.uk/efo/EFO_0006671 NCI-H209 'NCI-H209' SubClassOf 'bearer_of' some 'small cell lung carcinoma' 'NCI-H209' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) 'NCI-H209' SubClassOf 'cultured cell' 'NCI-H209' SubClassOf 'has_quality' some 'male' http://www.ebi.ac.uk/efo/EFO_0005340 GM12867 'GM12867' SubClassOf 'has_quality' some 'female' 'GM12867' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('blood' and ('part_of' some 'Homo sapiens')))) 'GM12867' SubClassOf 'derives_from' some 'European' 'GM12867' SubClassOf 'is_input_of' some 'ENCODE functional genome mapping' http://www.ebi.ac.uk/efo/EFO_0006670 NCI-H2073 'NCI-H2073' SubClassOf 'bearer_of' some 'lung adenocarcinoma' 'NCI-H2073' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) 'NCI-H2073' SubClassOf 'has_quality' some 'female' 'NCI-H2073' SubClassOf 'cultured cell' http://www.orpha.net/ORDO/Orphanet_90776 46,XX disorder of sex development induced by fetal androgens excess '46,XX disorder of sex development induced by fetal androgens excess' SubClassOf 'Genetic 46,XX disorder of sex development' '46,XX disorder of sex development induced by fetal androgens excess' SubClassOf 'Genetic disorder of sex development of gynecological interest' '46,XX disorder of sex development induced by fetal androgens excess' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020039 http://www.ebi.ac.uk/efo/EFO_0005343 GM12870 'GM12870' SubClassOf 'derives_from' some 'European' 'GM12870' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('blood' and ('part_of' some 'Homo sapiens')))) 'GM12870' SubClassOf 'is_input_of' some 'ENCODE functional genome mapping' 'GM12870' SubClassOf 'has_quality' some 'male' http://www.ebi.ac.uk/efo/EFO_0006675 NCI-H2172 'NCI-H2172' SubClassOf 'cultured cell' 'NCI-H2172' SubClassOf 'has_quality' some 'female' 'NCI-H2172' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) 'NCI-H2172' SubClassOf 'bearer_of' some 'non-small cell lung carcinoma' http://www.ebi.ac.uk/efo/EFO_0005344 GM12871 'GM12871' SubClassOf 'derives_from' some 'European' 'GM12871' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('blood' and ('part_of' some 'Homo sapiens')))) 'GM12871' SubClassOf 'is_input_of' some 'ENCODE functional genome mapping' 'GM12871' SubClassOf 'has_quality' some 'male' http://www.ebi.ac.uk/efo/EFO_0006674 NCI-H2135 'NCI-H2135' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) 'NCI-H2135' SubClassOf 'bearer_of' some 'non-small cell lung carcinoma' 'NCI-H2135' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0004010 wild-derived inbred strain 'wild-derived inbred strain' SubClassOf 'has_quality' some 'inbred' http://www.ebi.ac.uk/efo/EFO_0005341 GM12868 'GM12868' SubClassOf 'is_input_of' some 'ENCODE functional genome mapping' 'GM12868' SubClassOf 'derives_from' some 'European' 'GM12868' SubClassOf 'has_quality' some 'female' 'GM12868' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('blood' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0006673 NCI-H2110 'NCI-H2110' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) 'NCI-H2110' SubClassOf 'bearer_of' some 'non-small cell lung carcinoma' 'NCI-H2110' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0005342 GM12869 'GM12869' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('blood' and ('part_of' some 'Homo sapiens')))) 'GM12869' SubClassOf 'is_input_of' some 'ENCODE functional genome mapping' 'GM12869' SubClassOf 'derives_from' some 'European' 'GM12869' SubClassOf 'has_quality' some 'female' http://www.ebi.ac.uk/efo/EFO_0006672 NCI-H2106 'NCI-H2106' SubClassOf 'cultured cell' 'NCI-H2106' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) 'NCI-H2106' SubClassOf 'has_quality' some 'male' 'NCI-H2106' SubClassOf 'bearer_of' some 'non-small cell lung carcinoma' http://www.ebi.ac.uk/efo/EFO_0005347 GM15510 'GM15510' SubClassOf 'is_input_of' some 'ENCODE functional genome mapping' 'GM15510' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('blood' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0006679 NCI-H2373 'NCI-H2373' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) 'NCI-H2373' SubClassOf 'bearer_of' some 'mesothelioma' 'NCI-H2373' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0005348 GM18526 'GM18526' SubClassOf 'has_quality' some 'female' 'GM18526' SubClassOf 'derives_from' some 'Han Chinese' 'GM18526' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('blood' and ('part_of' some 'Homo sapiens')))) 'GM18526' SubClassOf 'is_input_of' some 'ENCODE functional genome mapping' http://www.ebi.ac.uk/efo/EFO_0006678 NCI-H2369 'NCI-H2369' SubClassOf 'bearer_of' some 'mesothelioma' 'NCI-H2369' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) 'NCI-H2369' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0005345 GM13976 'GM13976' SubClassOf 'has_quality' some 'female' 'GM13976' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('blood' and ('part_of' some 'Homo sapiens')))) 'GM13976' SubClassOf 'is_input_of' some 'ENCODE functional genome mapping' 'GM13976' SubClassOf 'derives_from' some 'European' http://www.ebi.ac.uk/efo/EFO_0006677 NCI-H2198 'NCI-H2198' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) 'NCI-H2198' SubClassOf 'has_quality' some 'male' 'NCI-H2198' SubClassOf 'cultured cell' 'NCI-H2198' SubClassOf 'bearer_of' some 'small cell lung carcinoma' http://www.ebi.ac.uk/efo/EFO_0005346 GM13977 'GM13977' SubClassOf 'has_quality' some 'female' 'GM13977' SubClassOf 'derives_from' some 'European' 'GM13977' SubClassOf 'is_input_of' some 'ENCODE functional genome mapping' 'GM13977' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('blood' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0006676 NCI-H2196 'NCI-H2196' SubClassOf 'bearer_of' some 'small cell lung carcinoma' 'NCI-H2196' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) 'NCI-H2196' SubClassOf 'cultured cell' 'NCI-H2196' SubClassOf 'has_quality' some 'male' http://www.ebi.ac.uk/efo/EFO_0005349 GM18951 'GM18951' SubClassOf 'derives_from' some 'Japanese' 'GM18951' SubClassOf 'is_input_of' some 'ENCODE functional genome mapping' 'GM18951' SubClassOf 'has_quality' some 'female' 'GM18951' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('blood' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/CHEBI_50095 bucladesine 'bucladesine' SubClassOf 'has_role' some 'drug role' http://www.orpha.net/ORDO/Orphanet_268184 Thiamine-responsive maple syrup urine disease 'Thiamine-responsive maple syrup urine disease' SubClassOf 'Maple syrup urine disease' 'Thiamine-responsive maple syrup urine disease' SubClassOf 'Maple syrup urine disease' http://purl.obolibrary.org/obo/UBERON_0008337 inguinal region 'inguinal region' SubClassOf 'part_of' some 'abdomen' http://www.ebi.ac.uk/efo/EFO_0006660 NCI-H1568 'NCI-H1568' SubClassOf 'cultured cell' 'NCI-H1568' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) 'NCI-H1568' SubClassOf 'bearer_of' some 'non-small cell lung carcinoma' 'NCI-H1568' SubClassOf 'has_quality' some 'female' http://www.orpha.net/ORDO/Orphanet_90786 46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect '46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect' SubClassOf '46,XY disorder of sex development due to testosterone synthesis defect' '46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect' SubClassOf '46,XY disorder of sex development of gynecological interest' '46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect' SubClassOf '46,XY disorder of sex development due to testosterone synthesis defect' '46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect' SubClassOf '46,XY disorder of sex development of gynecological interest' http://www.orpha.net/ORDO/Orphanet_90787 46,XY disorder of sex development due to testicular steroidogenesis defect '46,XY disorder of sex development due to testicular steroidogenesis defect' SubClassOf '46,XY disorder of sex development of gynecological interest' '46,XY disorder of sex development due to testicular steroidogenesis defect' SubClassOf '46,XY disorder of sex development due to testosterone synthesis defect' '46,XY disorder of sex development due to testicular steroidogenesis defect' SubClassOf '46,XY disorder of sex development of gynecological interest' '46,XY disorder of sex development due to testicular steroidogenesis defect' SubClassOf '46,XY disorder of sex development due to testosterone synthesis defect' http://www.ebi.ac.uk/efo/EFO_0005332 GM18505 'GM18505' SubClassOf 'derives_from' some 'Yoruban' 'GM18505' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('blood' and ('part_of' some 'Homo sapiens')))) 'GM18505' SubClassOf 'has_quality' some 'female' 'GM18505' SubClassOf 'is_input_of' some 'ENCODE functional genome mapping' http://www.ebi.ac.uk/efo/EFO_0006664 NCI-H1869 'NCI-H1869' SubClassOf 'cultured cell' 'NCI-H1869' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) 'NCI-H1869' SubClassOf 'has_quality' some 'male' 'NCI-H1869' SubClassOf 'bearer_of' some 'non-small cell lung carcinoma' http://www.ebi.ac.uk/efo/EFO_0004002 coisogenic strain 'coisogenic strain' SubClassOf 'has_quality' some 'inbred' http://www.ebi.ac.uk/efo/EFO_0005333 GM08714 'GM08714' SubClassOf 'has_quality' some 'female' 'GM08714' SubClassOf 'is_input_of' some 'ENCODE functional genome mapping' 'GM08714' SubClassOf 'derives_from' some 'European' 'GM08714' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('blood' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0006663 NCI-H1781 'NCI-H1781' SubClassOf 'has_quality' some 'female' 'NCI-H1781' SubClassOf 'bearer_of' some 'lung adenocarcinoma' 'NCI-H1781' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) 'NCI-H1781' SubClassOf 'cultured cell' http://purl.obolibrary.org/obo/CHEBI_89963 N-Butyrylglycine 'N-Butyrylglycine' SubClassOf 'amide' 'N-Butyrylglycine' SubClassOf 'amide' http://www.ebi.ac.uk/efo/EFO_0006662 NCI-H1734 'NCI-H1734' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) 'NCI-H1734' SubClassOf 'has_quality' some 'female' 'NCI-H1734' SubClassOf 'cultured cell' 'NCI-H1734' SubClassOf 'bearer_of' some 'non-small cell lung carcinoma' http://www.ebi.ac.uk/efo/EFO_0006661 NCI-H1693 'NCI-H1693' SubClassOf 'has_quality' some 'female' 'NCI-H1693' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) 'NCI-H1693' SubClassOf 'bearer_of' some 'non-small cell lung carcinoma' 'NCI-H1693' SubClassOf 'cultured cell' http://www.orpha.net/ORDO/Orphanet_90783 46,XY disorder of sex development due to testosterone synthesis defect '46,XY disorder of sex development due to testosterone synthesis defect' SubClassOf '46,XY disorder of sex development due to impaired androgen production' '46,XY disorder of sex development due to testosterone synthesis defect' SubClassOf http://purl.obolibrary.org/obo/MONDO_0045012 '46,XY disorder of sex development due to testosterone synthesis defect' SubClassOf '46,XY disorder of sex development due to impaired androgen production' '46,XY disorder of sex development due to testosterone synthesis defect' SubClassOf 'Developmental anomaly of metabolic origin' http://www.ebi.ac.uk/efo/EFO_0004005 inbred Mus musculus strain 'inbred Mus musculus strain' EquivalentTo 'has_quality' some 'inbred' http://www.ebi.ac.uk/efo/EFO_0005336 GM10847 'GM10847' SubClassOf 'has_quality' some 'female' 'GM10847' SubClassOf 'is_input_of' some 'ENCODE functional genome mapping' 'GM10847' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('blood' and ('part_of' some 'Homo sapiens')))) 'GM10847' SubClassOf 'derives_from' some 'European' http://www.ebi.ac.uk/efo/EFO_0006668 NCI-H196 'NCI-H196' SubClassOf 'bearer_of' some 'small cell lung carcinoma' 'NCI-H196' SubClassOf 'has_quality' some 'male' 'NCI-H196' SubClassOf 'cultured cell' 'NCI-H196' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0004006 mutant strain 'mutant strain' SubClassOf 'has_quality' some 'inbred' http://www.ebi.ac.uk/efo/EFO_0005337 GM12864 'GM12864' SubClassOf 'derives_from' some 'European' 'GM12864' SubClassOf 'has_quality' some 'male' 'GM12864' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('blood' and ('part_of' some 'Homo sapiens')))) 'GM12864' SubClassOf 'is_input_of' some 'ENCODE functional genome mapping' http://www.ebi.ac.uk/efo/EFO_0006667 NCI-H1944 'NCI-H1944' SubClassOf 'cultured cell' 'NCI-H1944' SubClassOf 'bearer_of' some 'non-small cell lung carcinoma' 'NCI-H1944' SubClassOf 'has_quality' some 'female' 'NCI-H1944' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0007998 cognitive impairment measurement 'cognitive impairment measurement' SubClassOf 'is_about' some 'cognitive impairment' http://www.ebi.ac.uk/efo/EFO_0004003 congenic strain 'congenic strain' SubClassOf 'has_quality' some 'inbred' http://www.ebi.ac.uk/efo/EFO_0005334 GM10248 'GM10248' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('blood' and ('part_of' some 'Homo sapiens')))) 'GM10248' SubClassOf 'has_quality' some 'male' 'GM10248' SubClassOf 'is_input_of' some 'ENCODE functional genome mapping' 'GM10248' SubClassOf 'derives_from' some 'European' http://www.ebi.ac.uk/efo/EFO_0006666 NCI-H1915 'NCI-H1915' SubClassOf 'has_quality' some 'female' 'NCI-H1915' SubClassOf 'bearer_of' some 'non-small cell lung carcinoma' 'NCI-H1915' SubClassOf 'cultured cell' 'NCI-H1915' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0004004 consomic strain 'consomic strain' SubClassOf 'has_quality' some 'inbred' http://www.ebi.ac.uk/efo/EFO_0005335 GM10266 'GM10266' SubClassOf 'derives_from' some 'European' 'GM10266' SubClassOf 'has_quality' some 'male' 'GM10266' SubClassOf 'is_input_of' some 'ENCODE functional genome mapping' 'GM10266' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('blood' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0006665 NCI-H1882 'NCI-H1882' SubClassOf 'cultured cell' 'NCI-H1882' SubClassOf 'bearer_of' some 'small cell lung carcinoma' 'NCI-H1882' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) 'NCI-H1882' SubClassOf 'has_quality' some 'male' http://www.ebi.ac.uk/efo/EFO_0004009 segregating inbred strain 'segregating inbred strain' SubClassOf 'has_quality' some 'inbred' http://www.ebi.ac.uk/efo/EFO_0005338 GM12865 'GM12865' SubClassOf 'has_quality' some 'female' 'GM12865' SubClassOf 'is_input_of' some 'ENCODE functional genome mapping' 'GM12865' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('blood' and ('part_of' some 'Homo sapiens')))) 'GM12865' SubClassOf 'derives_from' some 'European' http://www.ebi.ac.uk/efo/EFO_0004008 recombinant inbred strain 'recombinant inbred strain' SubClassOf 'has_quality' some 'inbred' http://www.ebi.ac.uk/efo/EFO_0005339 GM12866 'GM12866' SubClassOf 'derives_from' some 'European' 'GM12866' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('blood' and ('part_of' some 'Homo sapiens')))) 'GM12866' SubClassOf 'has_quality' some 'male' 'GM12866' SubClassOf 'is_input_of' some 'ENCODE functional genome mapping' http://www.ebi.ac.uk/efo/EFO_0006669 NCI-H2023 'NCI-H2023' SubClassOf 'bearer_of' some 'non-small cell lung carcinoma' 'NCI-H2023' SubClassOf 'cultured cell' 'NCI-H2023' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) 'NCI-H2023' SubClassOf 'has_quality' some 'male' http://purl.obolibrary.org/obo/CHEBI_49096 3-aminoisobutyrate '3-aminoisobutyrate' SubClassOf 'chemical entity' '3-aminoisobutyrate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_8212 pimozide 'pimozide' SubClassOf 'has_role' some 'antipsychotic drug' http://www.orpha.net/ORDO/Orphanet_268173 Intermittent maple syrup urine disease 'Intermittent maple syrup urine disease' SubClassOf 'Maple syrup urine disease' 'Intermittent maple syrup urine disease' SubClassOf 'Maple syrup urine disease' http://www.orpha.net/ORDO/Orphanet_90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency 'Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency' SubClassOf '46,XX disorder of sex development induced by fetal androgens excess' 'Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency' SubClassOf 'Congenital adrenal hyperplasia' 'Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency' SubClassOf '46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect' 'Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency' SubClassOf 'Congenital adrenal hyperplasia' 'Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency' SubClassOf '46,XX disorder of sex development induced by fetal androgens excess' 'Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044976 'Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency' SubClassOf '46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect' http://www.orpha.net/ORDO/Orphanet_90790 Congenital lipoid adrenal hyperplasia due to STAR deficency 'Congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'Congenital adrenal hyperplasia' 'Congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf '46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect' 'Congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'Non-acquired premature ovarian failure' 'Congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'Rare female infertility due to adrenal disorder of genetic origin' 'Congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'Congenital adrenal hyperplasia' 'Congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf '46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect' 'Congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'Non-acquired premature ovarian failure' 'Congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'Rare female infertility due to adrenal disorder of genetic origin' http://purl.obolibrary.org/obo/UBERON_0009676 early telencephalic vesicle 'early telencephalic vesicle' SubClassOf 'develops_from' some 'central nervous system' 'early telencephalic vesicle' SubClassOf 'part_of' some 'embryo' 'early telencephalic vesicle' SubClassOf 'part_of' some 'central nervous system' http://www.ebi.ac.uk/efo/EFO_0005361 CCD-13Lu 'CCD-13Lu' SubClassOf 'has_quality' some 'normal' 'CCD-13Lu' SubClassOf 'derives_from' some ('fibroblast' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0006693 NCI-H510A 'NCI-H510A' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) 'NCI-H510A' SubClassOf 'bearer_of' some 'small cell lung carcinoma' 'NCI-H510A' SubClassOf 'has_quality' some 'male' 'NCI-H510A' SubClassOf 'cultured cell' http://www.orpha.net/ORDO/Orphanet_90797 Partial androgen insensitivity syndrome 'Partial androgen insensitivity syndrome' SubClassOf 'Androgen insensitivity syndrome' 'Partial androgen insensitivity syndrome' SubClassOf 'Androgen insensitivity syndrome' http://www.ebi.ac.uk/efo/EFO_0005362 CCD-16Lu 'CCD-16Lu' SubClassOf 'derives_from' some ('fibroblast' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'CCD-16Lu' SubClassOf 'has_quality' some 'normal' http://www.ebi.ac.uk/efo/EFO_0006692 NCI-H345 'NCI-H345' SubClassOf 'has_quality' some 'male' 'NCI-H345' SubClassOf 'cultured cell' 'NCI-H345' SubClassOf 'bearer_of' some 'small cell lung carcinoma' 'NCI-H345' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) http://www.orpha.net/ORDO/Orphanet_90796 46,XY disorder of sex development due to isolated 17,20 lyase deficiency '46,XY disorder of sex development due to isolated 17,20 lyase deficiency' SubClassOf '46,XY disorder of sex development due to testicular steroidogenesis defect' '46,XY disorder of sex development due to isolated 17,20 lyase deficiency' SubClassOf '46,XY disorder of sex development due to testicular steroidogenesis defect' '46,XY disorder of sex development due to isolated 17,20 lyase deficiency' SubClassOf 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' http://www.ebi.ac.uk/efo/EFO_0006691 NCI-H322T 'NCI-H322T' SubClassOf 'bearer_of' some 'non-small cell lung carcinoma' 'NCI-H322T' SubClassOf 'cultured cell' 'NCI-H322T' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0005360 CCD-11Lu 'CCD-11Lu' SubClassOf 'derives_from' some ('fibroblast' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'CCD-11Lu' SubClassOf 'has_quality' some 'normal' http://www.ebi.ac.uk/efo/EFO_0006690 NCI-H292 'NCI-H292' SubClassOf 'bearer_of' some 'pulmonary mucoepidermoid carcinoma' 'NCI-H292' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) 'NCI-H292' SubClassOf 'has_quality' some 'female' 'NCI-H292' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0005365 CCD-29Lu 'CCD-29Lu' SubClassOf 'derives_from' some ('fibroblast' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0006697 NCI-H889 'NCI-H889' SubClassOf 'cultured cell' 'NCI-H889' SubClassOf 'has_quality' some 'female' 'NCI-H889' SubClassOf 'bearer_of' some 'small cell lung carcinoma' 'NCI-H889' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) http://www.orpha.net/ORDO/Orphanet_90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf '46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect' 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf 'Rare male infertility due to adrenal disorder of genetic origin' 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf 'Non-acquired premature ovarian failure' 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf 'Rare female infertility due to adrenal disorder of genetic origin' 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf 'Congenital adrenal hyperplasia' 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf '46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect' 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf 'Rare male infertility due to adrenal disorder of genetic origin' 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf 'Non-acquired premature ovarian failure' 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf 'Rare female infertility due to adrenal disorder of genetic origin' 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018387 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf 'Congenital adrenal hyperplasia' http://www.ebi.ac.uk/efo/EFO_0005366 CCD-33Lu 'CCD-33Lu' SubClassOf 'derives_from' some ('fibroblast' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) 'CCD-33Lu' SubClassOf 'has_quality' some 'normal' http://www.ebi.ac.uk/efo/EFO_0006696 NCI-H847 'NCI-H847' SubClassOf 'cultured cell' 'NCI-H847' SubClassOf 'has_quality' some 'male' 'NCI-H847' SubClassOf 'bearer_of' some 'small cell lung carcinoma' 'NCI-H847' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0005363 CCD-19Lu 'CCD-19Lu' SubClassOf 'derives_from' some ('fibroblast' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'CCD-19Lu' SubClassOf 'has_quality' some 'normal' http://www.ebi.ac.uk/efo/EFO_0006695 NCI-H727 'NCI-H727' SubClassOf 'bearer_of' some 'non-small cell lung carcinoma' 'NCI-H727' SubClassOf 'cultured cell' 'NCI-H727' SubClassOf 'has_quality' some 'female' 'NCI-H727' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) http://www.orpha.net/ORDO/Orphanet_90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency 'Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency' SubClassOf '46,XX disorder of sex development induced by fetal androgens excess' 'Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency' SubClassOf 'Congenital adrenal hyperplasia' 'Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency' SubClassOf '46,XX disorder of sex development induced by fetal androgens excess' 'Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency' SubClassOf 'Developmental anomaly of metabolic origin' 'Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency' SubClassOf 'Congenital adrenal hyperplasia' http://www.ebi.ac.uk/efo/EFO_0005364 CCD-25Lu 'CCD-25Lu' SubClassOf 'derives_from' some ('fibroblast' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0006694 NCI-H596 'NCI-H596' SubClassOf 'bearer_of' some 'adenosquamous lung carcinoma' 'NCI-H596' SubClassOf 'cultured cell' 'NCI-H596' SubClassOf 'has_quality' some 'male' 'NCI-H596' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) http://www.orpha.net/ORDO/Orphanet_90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf '46,XX disorder of sex development induced by fetal androgens excess' 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf 'Rare female infertility due to adrenal disorder of genetic origin' 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf 'Congenital adrenal hyperplasia' 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf 'Rare male infertility due to adrenal disorder of genetic origin' 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf '46,XX disorder of sex development induced by fetal androgens excess' 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf 'Rare female infertility due to adrenal disorder of genetic origin' 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018387 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf 'Rare male infertility due to adrenal disorder of genetic origin' 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf 'Congenital adrenal hyperplasia' 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044976 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf 'Developmental anomaly of metabolic origin' http://purl.obolibrary.org/obo/HP_0000934 Chondrocalcinosis 'Chondrocalcinosis' SubClassOf 'Abnormality of connective tissue' 'Chondrocalcinosis' SubClassOf 'Abnormality of connective tissue' http://www.ebi.ac.uk/efo/EFO_0004038 mouse embryonic stem cell 'mouse embryonic stem cell' SubClassOf 'located_in' some 'Mus' 'mouse embryonic stem cell' SubClassOf 'participates_in' some 'embryo' http://www.ebi.ac.uk/efo/EFO_0005369 Granta-519 'Granta-519' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('blood' and ('part_of' some 'Homo sapiens')))) 'Granta-519' SubClassOf 'bearer_of' some 'lymphoma' http://www.ebi.ac.uk/efo/EFO_0004039 mouse neural progenitor cell 'mouse neural progenitor cell' SubClassOf 'located_in' some 'Mus' http://www.ebi.ac.uk/efo/EFO_0005367 CCD-8Lu 'CCD-8Lu' SubClassOf 'derives_from' some ('fibroblast' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'CCD-8Lu' SubClassOf 'has_quality' some 'normal' http://www.ebi.ac.uk/efo/EFO_0006699 NOF151 'NOF151' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'NOF151' SubClassOf 'cultured cell' http://www.orpha.net/ORDO/Orphanet_400025 Female infertility due to an implantation defect of genetic origin 'Female infertility due to an implantation defect of genetic origin' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018403 http://www.ebi.ac.uk/efo/EFO_0004037 MEF cell line 'MEF cell line' SubClassOf 'derives_from' some ('mouse embryonic fibroblast cell' and ('part_of' some ('organism part' and ('part_of' some 'Mus musculus')))) http://www.ebi.ac.uk/efo/EFO_0005368 HFL1 'HFL1' SubClassOf 'derives_from' some ('fibroblast' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0006698 NCI-H920 'NCI-H920' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) 'NCI-H920' SubClassOf 'cultured cell' 'NCI-H920' SubClassOf 'bearer_of' some 'non-small cell lung carcinoma' 'NCI-H920' SubClassOf 'has_quality' some 'male' http://www.orpha.net/ORDO/Orphanet_400022 Rare female infertility due to an anomaly of ovarian function of genetic origin 'Rare female infertility due to an anomaly of ovarian function of genetic origin' SubClassOf 'has_disease_location' some 'female gonad' 'Rare female infertility due to an anomaly of ovarian function of genetic origin' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018401 http://www.orpha.net/ORDO/Orphanet_99135 6-phosphogluconate dehydrogenase deficiency '6-phosphogluconate dehydrogenase deficiency' SubClassOf 'Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies' '6-phosphogluconate dehydrogenase deficiency' SubClassOf 'Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies' http://purl.obolibrary.org/obo/CHEBI_74000 1-palmitoyl-2-palmitoleoyl-sn-glycero-3-phosphocholine '1-palmitoyl-2-palmitoleoyl-sn-glycero-3-phosphocholine' SubClassOf 'phospholipid' '1-palmitoyl-2-palmitoleoyl-sn-glycero-3-phosphocholine' SubClassOf 'phospholipid' http://www.orpha.net/ORDO/Orphanet_99138 Hemolytic anemia due to erythrocyte adenosine deaminase overproduction 'Hemolytic anemia due to erythrocyte adenosine deaminase overproduction' SubClassOf 'Disorder of purine metabolism' 'Hemolytic anemia due to erythrocyte adenosine deaminase overproduction' SubClassOf 'Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder' 'Hemolytic anemia due to erythrocyte adenosine deaminase overproduction' SubClassOf 'Disorder of purine metabolism' 'Hemolytic anemia due to erythrocyte adenosine deaminase overproduction' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003689 'Hemolytic anemia due to erythrocyte adenosine deaminase overproduction' SubClassOf 'Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder' http://purl.obolibrary.org/obo/CHEBI_8228 pioglitazone 'pioglitazone' SubClassOf 'has_role' some 'insulin-sensitizing drug' http://www.orpha.net/ORDO/Orphanet_268162 Intermediate maple syrup urine disease 'Intermediate maple syrup urine disease' SubClassOf 'Maple syrup urine disease' 'Intermediate maple syrup urine disease' SubClassOf 'Maple syrup urine disease' http://purl.obolibrary.org/obo/CHEBI_106304 sphingomyelin d18:1/16:0 'sphingomyelin d18:1/16:0' SubClassOf 'sphingomyelin' 'sphingomyelin d18:1/16:0' SubClassOf 'sphingomyelin' http://www.ebi.ac.uk/efo/EFO_0005350 GM19099 'GM19099' SubClassOf 'derives_from' some 'Yoruban' 'GM19099' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('blood' and ('part_of' some 'Homo sapiens')))) 'GM19099' SubClassOf 'is_input_of' some 'ENCODE functional genome mapping' 'GM19099' SubClassOf 'has_quality' some 'female' http://www.ebi.ac.uk/efo/EFO_0006682 NCI-H2595 'NCI-H2595' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) 'NCI-H2595' SubClassOf 'bearer_of' some 'mesothelioma' 'NCI-H2595' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0005351 GM19193 'GM19193' SubClassOf 'has_quality' some 'female' 'GM19193' SubClassOf 'derives_from' some 'Yoruban' 'GM19193' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('blood' and ('part_of' some 'Homo sapiens')))) 'GM19193' SubClassOf 'is_input_of' some 'ENCODE functional genome mapping' http://www.ebi.ac.uk/efo/EFO_0006681 NCI-H2461 'NCI-H2461' SubClassOf 'bearer_of' some 'mesothelioma' 'NCI-H2461' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) 'NCI-H2461' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0006680 NCI-H2452 'NCI-H2452' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) 'NCI-H2452' SubClassOf 'has_quality' some 'male' 'NCI-H2452' SubClassOf 'bearer_of' some 'mesothelioma' 'NCI-H2452' SubClassOf 'cultured cell' http://www.orpha.net/ORDO/Orphanet_281103 Keratinopathic ichthyosis 'Keratinopathic ichthyosis' SubClassOf 'Inherited non-syndromic ichthyosis' 'Keratinopathic ichthyosis' SubClassOf 'Inherited non-syndromic ichthyosis' http://www.ebi.ac.uk/efo/EFO_0004023 obsolete_Roberstonian translocation 'obsolete_Roberstonian translocation' SubClassOf 'obsolete class' 'obsolete_Roberstonian translocation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0006686 NCI-H28 'NCI-H28' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) 'NCI-H28' SubClassOf 'cultured cell' 'NCI-H28' SubClassOf 'bearer_of' some 'mesothelioma' 'NCI-H28' SubClassOf 'has_quality' some 'male' http://www.ebi.ac.uk/efo/EFO_0005355 HUES1 'HUES1' SubClassOf 'derives_from' some ('embryonic stem cell' and ('part_of' some ('embryo' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0006685 NCI-H2795 'NCI-H2795' SubClassOf 'cultured cell' 'NCI-H2795' SubClassOf 'bearer_of' some 'mesothelioma' 'NCI-H2795' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0005352 GM20000 'GM20000' SubClassOf 'is_input_of' some 'ENCODE functional genome mapping' 'GM20000' SubClassOf 'has_quality' some 'male' 'GM20000' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('blood' and ('part_of' some 'Homo sapiens')))) 'GM20000' SubClassOf 'derives_from' some ('European' and 'Hispanic or Latin American') http://www.ebi.ac.uk/efo/EFO_0006684 NCI-H2722 'NCI-H2722' SubClassOf 'cultured cell' 'NCI-H2722' SubClassOf 'bearer_of' some 'mesothelioma' 'NCI-H2722' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) http://www.orpha.net/ORDO/Orphanet_400018 Rare female infertility due to adrenal disorder of genetic origin 'Rare female infertility due to adrenal disorder of genetic origin' SubClassOf 'Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin' 'Rare female infertility due to adrenal disorder of genetic origin' SubClassOf 'Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin' 'Rare female infertility due to adrenal disorder of genetic origin' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018400 http://www.ebi.ac.uk/efo/EFO_0005353 GM12801 'GM12801' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('blood' and ('part_of' some 'Homo sapiens')))) 'GM12801' SubClassOf 'has_quality' some 'male' 'GM12801' SubClassOf 'is_input_of' some 'ENCODE functional genome mapping' 'GM12801' SubClassOf 'derives_from' some 'European' http://www.ebi.ac.uk/efo/EFO_0006683 NCI-H2596 'NCI-H2596' SubClassOf 'bearer_of' some 'mesothelioma' 'NCI-H2596' SubClassOf 'cultured cell' 'NCI-H2596' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0005358 CAL51 'CAL51' SubClassOf 'bearer_of' some 'breast carcinoma' 'CAL51' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0005359 CAL851 'CAL851' SubClassOf 'bearer_of' some 'breast carcinoma' 'CAL851' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0006689 NCI-H2810 'NCI-H2810' SubClassOf 'bearer_of' some 'mesothelioma' 'NCI-H2810' SubClassOf 'cultured cell' 'NCI-H2810' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0005356 CAL120 'CAL120' SubClassOf 'bearer_of' some 'breast carcinoma' 'CAL120' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0006688 NCI-H2804 'NCI-H2804' SubClassOf 'bearer_of' some 'mesothelioma' 'NCI-H2804' SubClassOf 'cultured cell' 'NCI-H2804' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0005357 CAL148 'CAL148' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'CAL148' SubClassOf 'bearer_of' some 'breast carcinoma' http://www.ebi.ac.uk/efo/EFO_0006687 NCI-H2803 'NCI-H2803' SubClassOf 'bearer_of' some 'mesothelioma' 'NCI-H2803' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) 'NCI-H2803' SubClassOf 'cultured cell' http://www.orpha.net/ORDO/Orphanet_400011 Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin 'Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018397 'Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0018397 and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) http://www.orpha.net/ORDO/Orphanet_294415 Renal-hepatic-pancreatic dysplasia 'Renal-hepatic-pancreatic dysplasia' SubClassOf 'Syndromic visceral malformation' 'Renal-hepatic-pancreatic dysplasia' SubClassOf 'Familial cystic renal disease' 'Renal-hepatic-pancreatic dysplasia' SubClassOf 'Syndromic visceral malformation' http://purl.obolibrary.org/obo/HP_0000951 abnormality of the skin 'abnormality of the skin' SubClassOf 'inheres in part of' some 'zone of skin' http://purl.obolibrary.org/obo/CHEBI_75342 1-oleoylglycerol '1-oleoylglycerol' SubClassOf 'lipid' '1-oleoylglycerol' SubClassOf 'lipid' http://purl.obolibrary.org/obo/CHEBI_9566 thioridazine 'thioridazine' SubClassOf ('has_role' some 'antipsychotic drug') and ('has_role' some 'alpha-adrenergic antagonist') and ('has_role' some 'serotonergic antagonist') and ('has_role' some 'dopaminergic antagonist') http://www.ebi.ac.uk/efo/EFO_0003083 pleomorphic liposarcoma 'pleomorphic liposarcoma' SubClassOf 'liposarcoma' 'pleomorphic liposarcoma' SubClassOf 'liposarcoma' http://www.ebi.ac.uk/efo/EFO_0003082 COLO205 'COLO205' SubClassOf 'cancer cell line' 'COLO205' SubClassOf 'bearer_of' some 'colorectal adenocarcinoma' 'COLO205' SubClassOf 'colorectal cancer cell line' 'COLO205' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003085 dedifferentiated liposarcoma 'dedifferentiated liposarcoma' SubClassOf 'liposarcoma' 'dedifferentiated liposarcoma' SubClassOf 'liposarcoma' http://www.ebi.ac.uk/efo/EFO_0003084 round cell liposarcoma 'round cell liposarcoma' SubClassOf 'liposarcoma' 'round cell liposarcoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020561 http://www.ebi.ac.uk/efo/EFO_0003087 obsolete_atrial myocardium 'obsolete_atrial myocardium' SubClassOf 'obsolete class' 'obsolete_atrial myocardium' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003086 kidney disease 'kidney disease' SubClassOf 'disease' 'kidney disease' EquivalentTo 'has_disease_location' some ('kidney' or ('part_of' some 'kidney')) 'kidney disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044965 'kidney disease' SubClassOf 'urinary system disease' http://www.orpha.net/ORDO/Orphanet_255229 Navajo neurohepatopathy 'Navajo neurohepatopathy' SubClassOf 'Mitochondrial DNA depletion syndrome, hepatocerebral form' 'Navajo neurohepatopathy' SubClassOf 'Mitochondrial DNA depletion syndrome, hepatocerebral form' http://www.ebi.ac.uk/efo/EFO_0003089 obsolete_spinocerebellar ataxia type 1 'obsolete_spinocerebellar ataxia type 1' SubClassOf 'obsolete class' 'obsolete_spinocerebellar ataxia type 1' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003088 obsolete_ventricular myocardium 'obsolete_ventricular myocardium' SubClassOf 'obsolete class' 'obsolete_ventricular myocardium' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/CHEBI_53439 calcineurin 'calcineurin' SubClassOf 'has_role' some 'drug role' http://www.orpha.net/ORDO/Orphanet_90186 Meige disease 'Meige disease' SubClassOf 'Milroy disease' 'Meige disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000486 'Meige disease' SubClassOf 'Rare genetic dystonia' http://www.ebi.ac.uk/efo/EFO_0003090 obsolete_spinocerebellar ataxia type 7 'obsolete_spinocerebellar ataxia type 7' SubClassOf 'obsolete class' 'obsolete_spinocerebellar ataxia type 7' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003092 obsolete_neurofibromatosis 'obsolete_neurofibromatosis' SubClassOf 'obsolete class' 'obsolete_neurofibromatosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003091 obsolete_spinocerebellar ataxia type 17 'obsolete_spinocerebellar ataxia type 17' SubClassOf 'obsolete class' 'obsolete_spinocerebellar ataxia type 17' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003072 SK-N-SH 'SK-N-SH' SubClassOf 'bearer_of' some 'neuroblastoma' 'SK-N-SH' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('brain' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003071 obsolete_sacrum 'obsolete_sacrum' SubClassOf 'obsolete class' 'obsolete_sacrum' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003074 ES cell line 'ES cell line' SubClassOf 'derives_from' some ('mouse embryonic stem cell' and ('part_of' some ('organism part' and ('part_of' some 'Mus')))) http://www.orpha.net/ORDO/Orphanet_255235 Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy 'Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy' SubClassOf 'Mitochondrial DNA depletion syndrome, encephalomyopathic form' 'Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy' SubClassOf 'Mitochondrial DNA depletion syndrome, encephalomyopathic form' http://www.ebi.ac.uk/efo/EFO_0003073 asymptomatic myeloma 'asymptomatic myeloma' SubClassOf 'multiple myeloma' 'asymptomatic myeloma' SubClassOf 'multiple myeloma' http://www.orpha.net/ORDO/Orphanet_231249 Hemoglobin E - beta-thalassemia 'Hemoglobin E - beta-thalassemia' SubClassOf 'Beta-thalassemia associated with another hemoglobin anomaly' 'Hemoglobin E - beta-thalassemia' SubClassOf 'Beta-thalassemia associated with another hemoglobin anomaly' http://www.ebi.ac.uk/efo/EFO_0003075 xanthoma 'xanthoma' SubClassOf 'metabolic disease' 'xanthoma' SubClassOf 'realized_in' some ('disease course' and ('has part' some 'metabolic process')) 'xanthoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024297 'xanthoma' SubClassOf 'metabolic disease' http://www.ebi.ac.uk/efo/EFO_0003078 obsolete_yolk sac 'obsolete_yolk sac' SubClassOf 'obsolete class' 'obsolete_yolk sac' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003079 obsolete_X-linked agammaglobulinemia 'obsolete_X-linked agammaglobulinemia' SubClassOf 'obsolete class' 'obsolete_X-linked agammaglobulinemia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/CHEBI_53424 polysorbate 20 'polysorbate 20' SubClassOf 'has_role' some 'non ionic surfactant role' http://www.orpha.net/ORDO/Orphanet_231242 Hemoglobin C - beta-thalassemia 'Hemoglobin C - beta-thalassemia' SubClassOf 'Beta-thalassemia associated with another hemoglobin anomaly' 'Hemoglobin C - beta-thalassemia' SubClassOf 'Beta-thalassemia associated with another hemoglobin anomaly' http://www.orpha.net/ORDO/Orphanet_280200 Microform holoprosencephaly 'Microform holoprosencephaly' SubClassOf 'Midline cerebral malformation' http://www.ebi.ac.uk/efo/EFO_0003081 SK-MEL-28 'SK-MEL-28' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'SK-MEL-28' SubClassOf 'bearer_of' some 'melanoma' http://purl.obolibrary.org/obo/CHEBI_30779 succinate(1-) 'succinate(1-)' SubClassOf 'chemical entity' 'succinate(1-)' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_30780 maleate (-2) 'maleate (-2)' SubClassOf 'chemical entity' 'maleate (-2)' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_41423 celecoxib 'celecoxib' SubClassOf ('has_role' some 'non-narcotic analgesic') and ('has_role' some 'cyclooxygenase inhibitor') http://www.orpha.net/ORDO/Orphanet_280210 Pelizaeus-Merzbacher disease, connatal form 'Pelizaeus-Merzbacher disease, connatal form' SubClassOf 'Pelizaeus-Merzbacher disease' 'Pelizaeus-Merzbacher disease, connatal form' SubClassOf 'Pelizaeus-Merzbacher disease' http://www.ebi.ac.uk/efo/EFO_0003094 ganglioglioma 'ganglioglioma' SubClassOf 'glioma' 'ganglioglioma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016729 'ganglioglioma' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0024491 'ganglioglioma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021637 http://www.ebi.ac.uk/efo/EFO_0003093 obsolete_adrenocortical carcinoma 'obsolete_adrenocortical carcinoma' SubClassOf 'obsolete class' 'obsolete_adrenocortical carcinoma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003096 Pick disease 'Pick disease' SubClassOf 'has_disease_location' some 'temporal lobe' 'Pick disease' SubClassOf 'realized_in' some ('disease course' and ('has part' some 'microtubule-associated protein tau')) 'Pick disease' SubClassOf 'realized_in' some ('disease course' and ('has part' some 'neurodegeneration')) 'Pick disease' SubClassOf 'Frontotemporal dementia' 'Pick disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044996 'Pick disease' SubClassOf 'has_disease_location' some 'frontal cortex' http://www.ebi.ac.uk/efo/EFO_0003095 non-alcoholic fatty liver disease 'non-alcoholic fatty liver disease' SubClassOf 'liver disease' 'non-alcoholic fatty liver disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004790 http://www.ebi.ac.uk/efo/EFO_0003098 obsolete_meningioma 'obsolete_meningioma' SubClassOf 'obsolete class' 'obsolete_meningioma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_280219 Pelizaeus-Merzbacher disease, classic form 'Pelizaeus-Merzbacher disease, classic form' SubClassOf 'Pelizaeus-Merzbacher disease' 'Pelizaeus-Merzbacher disease, classic form' SubClassOf 'Pelizaeus-Merzbacher disease' http://www.ebi.ac.uk/efo/EFO_0003097 empyema 'empyema' SubClassOf 'bacterial disease' 'empyema' SubClassOf 'bacterial disease' http://www.ebi.ac.uk/efo/EFO_0003099 Cushing syndrome 'Cushing syndrome' SubClassOf 'endocrine system disease' 'Cushing syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Cushing syndrome' SubClassOf 'adrenal gland disease' http://www.orpha.net/ORDO/Orphanet_255210 Maternally-inherited Leigh syndrome 'Maternally-inherited Leigh syndrome' SubClassOf 'Neurometabolic disease' 'Maternally-inherited Leigh syndrome' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' 'Maternally-inherited Leigh syndrome' SubClassOf 'Leigh syndrome' 'Maternally-inherited Leigh syndrome' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' http://purl.obolibrary.org/obo/CHEBI_16454 pantothenate 'pantothenate' SubClassOf 'chemical entity' 'pantothenate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_17786 N-acetyl-L-leucine 'N-acetyl-L-leucine' SubClassOf 'chemical entity' 'N-acetyl-L-leucine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_30762 salicylate 'salicylate' SubClassOf 'chemical entity' 'salicylate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_28445 vincristine 'vincristine' SubClassOf 'has_role' some 'antineoplastic agent' http://purl.obolibrary.org/obo/CHEBI_17771 trans-urocanate 'trans-urocanate' SubClassOf 'chemical entity' 'trans-urocanate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_17774 pimelate(1-) 'pimelate(1-)' SubClassOf 'chemical entity' 'pimelate(1-)' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_16449 alanine 'alanine' SubClassOf 'has_role' some 'metabolite role' http://purl.obolibrary.org/obo/CHEBI_78796 nonadecanoate 'nonadecanoate' SubClassOf 'lipid' 'nonadecanoate' SubClassOf 'lipid' http://www.orpha.net/ORDO/Orphanet_91483 Rieger anomaly 'Rieger anomaly' SubClassOf 'Iridogoniodysgenesis' 'Rieger anomaly' SubClassOf 'Iridogoniodysgenesis' http://www.orpha.net/ORDO/Orphanet_90153 Mandibuloacral dysplasia with type A lipodystrophy 'Mandibuloacral dysplasia with type A lipodystrophy' SubClassOf 'Mandibuloacral dysplasia' 'Mandibuloacral dysplasia with type A lipodystrophy' SubClassOf 'Mandibuloacral dysplasia' 'Mandibuloacral dysplasia with type A lipodystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021106 http://www.orpha.net/ORDO/Orphanet_91489 Isolated congenital megalocornea 'Isolated congenital megalocornea' SubClassOf 'Corneogoniodysgenesis' 'Isolated congenital megalocornea' SubClassOf 'Corneogoniodysgenesis' 'Isolated congenital megalocornea' SubClassOf http://purl.obolibrary.org/obo/MONDO_0009576 http://purl.obolibrary.org/obo/CHEBI_89454 17-Hydroxypregnenolone sulfate '17-Hydroxypregnenolone sulfate' SubClassOf 'lipid' '17-Hydroxypregnenolone sulfate' SubClassOf 'lipid' http://www.orpha.net/ORDO/Orphanet_90154 Mandibuloacral dysplasia with type B lipodystrophy 'Mandibuloacral dysplasia with type B lipodystrophy' SubClassOf 'Mandibuloacral dysplasia' 'Mandibuloacral dysplasia with type B lipodystrophy' SubClassOf 'Mandibuloacral dysplasia' 'Mandibuloacral dysplasia with type B lipodystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021106 http://www.orpha.net/ORDO/Orphanet_255249 Leigh syndrome with nephrotic syndrome 'Leigh syndrome with nephrotic syndrome' SubClassOf 'disease has feature' some 'nephrotic syndrome' 'Leigh syndrome with nephrotic syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018859 'Leigh syndrome with nephrotic syndrome' SubClassOf 'Coenzyme Q10 deficiency' http://www.orpha.net/ORDO/Orphanet_255241 Leigh syndrome with leukodystrophy 'Leigh syndrome with leukodystrophy' SubClassOf 'Leigh syndrome' 'Leigh syndrome with leukodystrophy' SubClassOf 'Leigh syndrome' http://www.orpha.net/ORDO/Orphanet_91494 Macular coloboma - cleft palate - hallux valgus 'Macular coloboma - cleft palate - hallux valgus' SubClassOf 'Orofacial clefting syndrome' 'Macular coloboma - cleft palate - hallux valgus' SubClassOf 'Syndromic developmental defect of the eye' 'Macular coloboma - cleft palate - hallux valgus' SubClassOf 'Colobomatous and areolar dystrophy' 'Macular coloboma - cleft palate - hallux valgus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 'Macular coloboma - cleft palate - hallux valgus' SubClassOf 'Orofacial clefting syndrome' 'Macular coloboma - cleft palate - hallux valgus' SubClassOf 'Syndromic developmental defect of the eye' 'Macular coloboma - cleft palate - hallux valgus' SubClassOf 'Colobomatous and areolar dystrophy' http://www.orpha.net/ORDO/Orphanet_91495 Persistent hyperplastic primary vitreous 'Persistent hyperplastic primary vitreous' SubClassOf 'Syndromic cataract' 'Persistent hyperplastic primary vitreous' SubClassOf 'Congenital vitreoretinal dysplasia' 'Persistent hyperplastic primary vitreous' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004860 'Persistent hyperplastic primary vitreous' SubClassOf 'Syndromic cataract' 'Persistent hyperplastic primary vitreous' SubClassOf 'Congenital vitreoretinal dysplasia' http://purl.obolibrary.org/obo/HP_0008388 Abnormality of the toenails 'Abnormality of the toenails' SubClassOf 'has part' some ('quality' and ('inheres_in' some 'nail') and ('has component' some 'abnormal')) http://www.orpha.net/ORDO/Orphanet_91490 Isolated congenital sclerocornea 'Isolated congenital sclerocornea' SubClassOf 'Corneogoniodysgenesis' 'Isolated congenital sclerocornea' SubClassOf 'corneal disease' 'Isolated congenital sclerocornea' SubClassOf 'Corneogoniodysgenesis' http://www.orpha.net/ORDO/Orphanet_91491 Congenital ectropion uveae 'Congenital ectropion uveae' SubClassOf 'Iridogoniodysgenesis' 'Congenital ectropion uveae' SubClassOf 'Iridogoniodysgenesis' http://www.orpha.net/ORDO/Orphanet_91498 Familial congenital palsy of trochlear nerve 'Familial congenital palsy of trochlear nerve' SubClassOf 'Congenital trochlear nerve palsy' 'Familial congenital palsy of trochlear nerve' SubClassOf 'Rare genetic neurological disorder' 'Familial congenital palsy of trochlear nerve' SubClassOf 'Nuclear oculomotor paralysis' 'Familial congenital palsy of trochlear nerve' SubClassOf 'Congenital trochlear nerve palsy' 'Familial congenital palsy of trochlear nerve' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0001146 and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) http://www.orpha.net/ORDO/Orphanet_91496 Snowflake vitreoretinal degeneration 'Snowflake vitreoretinal degeneration' SubClassOf 'Vitreoretinal degeneration' 'Snowflake vitreoretinal degeneration' SubClassOf 'Vitreoretinal degeneration' http://purl.obolibrary.org/obo/CHEBI_16411 indole-3-acetic acid 'indole-3-acetic acid' SubClassOf 'has_role' some 'plant growth hormone' 'indole-3-acetic acid' SubClassOf 'has_role' some 'auxin role' http://www.orpha.net/ORDO/Orphanet_399058 Alpha-B crystallin-related late-onset distal myopathy 'Alpha-B crystallin-related late-onset distal myopathy' SubClassOf 'Alpha-crystallinopathy' 'Alpha-B crystallin-related late-onset distal myopathy' SubClassOf 'Autosomal dominant distal myopathy' 'Alpha-B crystallin-related late-onset distal myopathy' SubClassOf 'Alpha-crystallinopathy' 'Alpha-B crystallin-related late-onset distal myopathy' SubClassOf 'Autosomal dominant distal myopathy' http://purl.obolibrary.org/obo/CHEBI_29747 cholate 'cholate' SubClassOf 'chemical entity' 'cholate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_29746 glycocholate 'glycocholate' SubClassOf 'chemical entity' 'glycocholate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_16437 N-acetyl-L-histidine 'N-acetyl-L-histidine' SubClassOf 'chemical entity' 'N-acetyl-L-histidine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_17768 N-acetylputrescine 'N-acetylputrescine' SubClassOf 'chemical entity' 'N-acetylputrescine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_17750 glycine betaine 'glycine betaine' SubClassOf 'chemical entity' 'glycine betaine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_17752 N(6)-acetyl-L-lysine 'N(6)-acetyl-L-lysine' SubClassOf 'chemical entity' 'N(6)-acetyl-L-lysine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_17754 glycerol 'glycerol' SubClassOf 'carbohydrate' 'glycerol' SubClassOf 'carbohydrate' http://purl.obolibrary.org/obo/CHEBI_17755 cystathionine 'cystathionine' SubClassOf 'amino acid' 'cystathionine' SubClassOf 'amino acid' http://www.orpha.net/ORDO/Orphanet_231214 Beta-thalassemia major 'Beta-thalassemia major' SubClassOf 'Beta-thalassemia' 'Beta-thalassemia major' SubClassOf http://purl.obolibrary.org/obo/MONDO_0013517 http://www.orpha.net/ORDO/Orphanet_401935 14q24.1q24.3 microdeletion syndrome '14q24.1q24.3 microdeletion syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '14q24.1q24.3 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 14' '14q24.1q24.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 '14q24.1q24.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 '14q24.1q24.3 microdeletion syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '14q24.1q24.3 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 14' http://www.orpha.net/ORDO/Orphanet_31837 Pulmonary venoocclusive disease 'Pulmonary venoocclusive disease' SubClassOf 'Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis' 'Pulmonary venoocclusive disease' SubClassOf 'Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis' http://www.orpha.net/ORDO/Orphanet_399096 Distal anoctaminopathy 'Distal anoctaminopathy' SubClassOf 'Autosomal recessive distal myopathy' 'Distal anoctaminopathy' SubClassOf 'Miyoshi myopathy' http://www.orpha.net/ORDO/Orphanet_401923 9q31.1q31.3 microdeletion syndrome '9q31.1q31.3 microdeletion syndrome' SubClassOf 'Partial monosomy of the long arm of chromosome 9' '9q31.1q31.3 microdeletion syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '9q31.1q31.3 microdeletion syndrome' SubClassOf 'Partial monosomy of the long arm of chromosome 9' '9q31.1q31.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 '9q31.1q31.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 '9q31.1q31.3 microdeletion syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_231237 Delta-beta-thalassemia 'Delta-beta-thalassemia' SubClassOf 'Beta-thalassemia associated with another hemoglobin anomaly' 'Delta-beta-thalassemia' SubClassOf 'Beta-thalassemia associated with another hemoglobin anomaly' http://www.orpha.net/ORDO/Orphanet_401911 AXIN2-related attenuated familial adenomatous polyposis 'AXIN2-related attenuated familial adenomatous polyposis' SubClassOf 'Attenuated familial adenomatous polyposis' 'AXIN2-related attenuated familial adenomatous polyposis' SubClassOf 'Attenuated familial adenomatous polyposis' http://purl.obolibrary.org/obo/CHEBI_17724 N,N-dimethylglycine 'N,N-dimethylglycine' SubClassOf 'amino acid' 'N,N-dimethylglycine' SubClassOf 'amino acid' http://www.orpha.net/ORDO/Orphanet_231230 Beta-thalassemia associated with another hemoglobin anomaly 'Beta-thalassemia associated with another hemoglobin anomaly' SubClassOf 'Beta-thalassemia and related diseases' 'Beta-thalassemia associated with another hemoglobin anomaly' SubClassOf 'Beta-thalassemia and related diseases' http://purl.obolibrary.org/obo/NCBITaxon_3702 Arabidopsis thaliana 'Arabidopsis thaliana' SubClassOf 'part_of' some 'ecotype' http://www.orpha.net/ORDO/Orphanet_158038 Primary hemophagocytic lymphohistiocytosis 'Primary hemophagocytic lymphohistiocytosis' SubClassOf 'Immune dysregulation disease with immunodeficiency' 'Primary hemophagocytic lymphohistiocytosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003847 'Primary hemophagocytic lymphohistiocytosis' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0015540 and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) 'Primary hemophagocytic lymphohistiocytosis' SubClassOf 'Immune dysregulation disease with immunodeficiency' 'Primary hemophagocytic lymphohistiocytosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015540 http://www.orpha.net/ORDO/Orphanet_231226 Dominant beta-thalassemia 'Dominant beta-thalassemia' SubClassOf 'Beta-thalassemia' 'Dominant beta-thalassemia' SubClassOf 'Beta-thalassemia' http://www.orpha.net/ORDO/Orphanet_401901 Huntington disease-like syndrome due to C9ORF72 expansions 'Huntington disease-like syndrome due to C9ORF72 expansions' SubClassOf 'Neurodegenerative disease with chorea' 'Huntington disease-like syndrome due to C9ORF72 expansions' SubClassOf 'Genetic neurodegenerative disease with dementia' 'Huntington disease-like syndrome due to C9ORF72 expansions' SubClassOf 'Huntington disease-like syndrome' 'Huntington disease-like syndrome due to C9ORF72 expansions' SubClassOf 'Neurodegenerative disease with chorea' 'Huntington disease-like syndrome due to C9ORF72 expansions' SubClassOf 'Genetic neurodegenerative disease with dementia' http://www.orpha.net/ORDO/Orphanet_231222 Beta-thalassemia intermedia 'Beta-thalassemia intermedia' SubClassOf 'Beta-thalassemia' 'Beta-thalassemia intermedia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0013517 http://www.orpha.net/ORDO/Orphanet_399081 KLHL9-related childhood-onset distal myopathy 'KLHL9-related childhood-onset distal myopathy' SubClassOf 'Autosomal dominant distal myopathy' 'KLHL9-related childhood-onset distal myopathy' SubClassOf 'Autosomal dominant distal myopathy' http://www.orpha.net/ORDO/Orphanet_399086 Finnish upper limb-onset distal myopathy 'Finnish upper limb-onset distal myopathy' SubClassOf 'Autosomal dominant distal myopathy' 'Finnish upper limb-onset distal myopathy' SubClassOf 'Autosomal dominant distal myopathy' http://www.orpha.net/ORDO/Orphanet_158029 Sea-blue histiocytosis 'Sea-blue histiocytosis' SubClassOf 'Sphingolipidosis' 'Sea-blue histiocytosis' SubClassOf 'Rare syndromic dyslipidemia' 'Sea-blue histiocytosis' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'Sea-blue histiocytosis' SubClassOf 'Sphingolipidosis' 'Sea-blue histiocytosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015531 'Sea-blue histiocytosis' SubClassOf 'disease has feature' some 'histiocytoma' http://www.orpha.net/ORDO/Orphanet_401859 Lipoic acid synthetase deficiency 'Lipoic acid synthetase deficiency' SubClassOf 'Lipoic acid biosynthesis defect' 'Lipoic acid synthetase deficiency' SubClassOf 'Rare syndromic dyslipidemia' 'Lipoic acid synthetase deficiency' SubClassOf 'Pyruvate dehydrogenase deficiency' 'Lipoic acid synthetase deficiency' SubClassOf 'Lipoic acid biosynthesis defect' http://www.orpha.net/ORDO/Orphanet_401854 Lipoic acid biosynthesis defect 'Lipoic acid biosynthesis defect' SubClassOf 'Mitochondrial disease' 'Lipoic acid biosynthesis defect' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004069 'Lipoic acid biosynthesis defect' SubClassOf http://purl.obolibrary.org/obo/MONDO_0056803 'Lipoic acid biosynthesis defect' SubClassOf http://purl.obolibrary.org/obo/MONDO_0037858 http://www.ebi.ac.uk/efo/EFO_0006910 HPL1E 'HPL1E' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) 'HPL1E' SubClassOf 'has_quality' some 'female' http://www.ebi.ac.uk/efo/EFO_0006913 prefrontal cortex cytoarchtiectural measurement 'prefrontal cortex cytoarchtiectural measurement' SubClassOf 'is_about' some 'prefrontal cortex' http://www.orpha.net/ORDO/Orphanet_352487 Digital anomalies - intellectual disability - short stature 'Digital anomalies - intellectual disability - short stature' SubClassOf 'X-linked syndromic intellectual disability' 'Digital anomalies - intellectual disability - short stature' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Digital anomalies - intellectual disability - short stature' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Digital anomalies - intellectual disability - short stature' SubClassOf 'X-linked syndromic intellectual disability' 'Digital anomalies - intellectual disability - short stature' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' http://www.ebi.ac.uk/efo/EFO_0006919 cardiovascular event measurement 'cardiovascular event measurement' SubClassOf 'is_about' some 'cardiovascular disease' http://www.orpha.net/ORDO/Orphanet_401849 Autosomal recessive spastic paraplegia type 72 'Autosomal recessive spastic paraplegia type 72' SubClassOf 'Pure hereditary spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_401840 Autosomal recessive spastic paraplegia type 71 'Autosomal recessive spastic paraplegia type 71' SubClassOf 'Autosomal recessive pure spastic paraplegia' 'Autosomal recessive spastic paraplegia type 71' SubClassOf 'Autosomal recessive pure spastic paraplegia' http://www.ebi.ac.uk/efo/EFO_0006903 hepatocyte growth factor measurement 'hepatocyte growth factor measurement' SubClassOf 'is_about' some 'cardiovascular disease' 'hepatocyte growth factor measurement' SubClassOf 'is_about' some 'hepatocyte growth factor' 'hepatocyte growth factor measurement' SubClassOf 'is_about' some 'cancer' http://www.ebi.ac.uk/efo/EFO_0006902 angiopoietin-2 receptor measurement 'angiopoietin-2 receptor measurement' SubClassOf 'is_about' some 'protein' 'angiopoietin-2 receptor measurement' SubClassOf 'is_about' some ('cardiovascular disease' and ('has_role' some 'biomarker')) 'angiopoietin-2 receptor measurement' SubClassOf 'is_about' some 'cancer' http://www.ebi.ac.uk/efo/EFO_0006901 angiopoietin-2 measurement 'angiopoietin-2 measurement' SubClassOf 'is_about' some 'protein' 'angiopoietin-2 measurement' SubClassOf 'is_about' some 'angiotensin II' 'angiopoietin-2 measurement' SubClassOf 'is_about' some ('cardiovascular disease' and ('has_role' some 'biomarker')) 'angiopoietin-2 measurement' SubClassOf 'is_about' some 'cancer' http://www.ebi.ac.uk/efo/EFO_0006900 endothelial growth factor measurement 'endothelial growth factor measurement' SubClassOf 'is_about' some 'cardiovascular disease' 'endothelial growth factor measurement' SubClassOf 'is_about' some 'protein' 'endothelial growth factor measurement' SubClassOf 'is_about' some 'cancer' http://www.ebi.ac.uk/efo/EFO_0006907 HPL1A 'HPL1A' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) 'HPL1A' SubClassOf 'has_quality' some 'female' http://www.ebi.ac.uk/efo/EFO_0006906 virologic response measurement 'virologic response measurement' SubClassOf 'is_about' some 'viral disease' http://purl.obolibrary.org/obo/UBERON_0006483 Brodmann (1909) area 46 'Brodmann (1909) area 46' SubClassOf 'cerebral cortex' 'Brodmann (1909) area 46' SubClassOf 'cerebral cortex' http://www.orpha.net/ORDO/Orphanet_399103 Nebulin-related early-onset distal myopathy 'Nebulin-related early-onset distal myopathy' SubClassOf 'Autosomal recessive distal myopathy' 'Nebulin-related early-onset distal myopathy' SubClassOf 'Autosomal recessive distal myopathy' http://www.ebi.ac.uk/efo/EFO_0006909 HPL1D 'HPL1D' SubClassOf 'has_quality' some 'female' 'HPL1D' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0006908 HPL1C 'HPL1C' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) 'HPL1C' SubClassOf 'has_quality' some 'female' http://www.orpha.net/ORDO/Orphanet_352490 Autism spectrum disorder due to AUTS2 deficiency 'Autism spectrum disorder due to AUTS2 deficiency' SubClassOf 'Rare disease with autism' 'Autism spectrum disorder due to AUTS2 deficiency' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Autism spectrum disorder due to AUTS2 deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 'Autism spectrum disorder due to AUTS2 deficiency' SubClassOf 'Rare disease with autism' 'Autism spectrum disorder due to AUTS2 deficiency' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Autism spectrum disorder due to AUTS2 deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Autism spectrum disorder due to AUTS2 deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 http://www.orpha.net/ORDO/Orphanet_401835 Autosomal recessive spastic paraplegia type 70 'Autosomal recessive spastic paraplegia type 70' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Autosomal recessive spastic paraplegia type 70' SubClassOf 'Autosomal recessive complex spastic paraplegia' http://purl.obolibrary.org/obo/CHEBI_17802 pseudouridine 'pseudouridine' SubClassOf 'chemical entity' 'pseudouridine' SubClassOf 'chemical entity' http://www.ebi.ac.uk/efo/EFO_0006932 putamen volume 'putamen volume' SubClassOf 'is_about' some 'putamen' 'putamen volume' SubClassOf 'is_about' some 'brain' 'putamen volume' SubClassOf 'is_about' some 'volume' http://www.ebi.ac.uk/efo/EFO_0006931 nucleus accumbens volume 'nucleus accumbens volume' SubClassOf 'is_about' some 'nucleus accumbens' 'nucleus accumbens volume' SubClassOf 'is_about' some 'brain' 'nucleus accumbens volume' SubClassOf 'is_about' some 'volume' http://www.ebi.ac.uk/efo/EFO_0006930 brain volume measurement 'brain volume measurement' EquivalentTo 'measurement' and (('is_about' some 'brain') and ('is_about' some 'volume')) http://www.orpha.net/ORDO/Orphanet_401830 Autosomal recessive spastic paraplegia type 69 'Autosomal recessive spastic paraplegia type 69' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Autosomal recessive spastic paraplegia type 69' SubClassOf 'Autosomal recessive complex spastic paraplegia' http://purl.obolibrary.org/obo/CLO_0034375 GM14153 'GM14153' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM14153' SubClassOf 'has_quality' some 'male' 'GM14153' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0006935 thalamus volume 'thalamus volume' SubClassOf 'is_about' some 'volume' 'thalamus volume' SubClassOf 'is_about' some 'brain' 'thalamus volume' SubClassOf 'is_about' some 'dorsal plus ventral thalamus' http://www.ebi.ac.uk/efo/EFO_0006934 amygdala volume 'amygdala volume' SubClassOf 'is_about' some 'amygdala' 'amygdala volume' SubClassOf 'is_about' some 'volume' 'amygdala volume' SubClassOf 'is_about' some 'brain' http://www.ebi.ac.uk/efo/EFO_0006933 pallidum volume 'pallidum volume' SubClassOf 'is_about' some 'brain' 'pallidum volume' SubClassOf 'is_about' some 'volume' http://www.ebi.ac.uk/efo/EFO_0005608 cortical opacity measurement 'cortical opacity measurement' SubClassOf 'is_about' some 'eye' 'cortical opacity measurement' SubClassOf 'is_about' some 'cataract' http://www.ebi.ac.uk/efo/EFO_0005606 family history of breast cancer 'family history of breast cancer' SubClassOf 'is_about' some 'breast carcinoma' http://www.orpha.net/ORDO/Orphanet_401825 Autosomal recessive spastic paraplegia type 68 'Autosomal recessive spastic paraplegia type 68' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Autosomal recessive spastic paraplegia type 68' SubClassOf 'Autosomal recessive complex spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_401820 Autosomal recessive spastic paraplegia type 67 'Autosomal recessive spastic paraplegia type 67' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Autosomal recessive spastic paraplegia type 67' SubClassOf 'Autosomal recessive complex spastic paraplegia' http://www.ebi.ac.uk/efo/EFO_0006920 BNP measurement 'BNP measurement' SubClassOf 'is_about' some 'cardiovascular disease' 'BNP measurement' SubClassOf 'is_about' some 'protein' http://www.ebi.ac.uk/efo/EFO_0006925 lipoprotein A measurement 'lipoprotein A measurement' SubClassOf 'is_about' some 'lipoprotein' http://www.ebi.ac.uk/efo/EFO_0006924 household air pollution measurement 'household air pollution measurement' SubClassOf 'is_about' some 'respiratory system disease' http://www.ebi.ac.uk/efo/EFO_0006923 fertility measurement 'fertility measurement' SubClassOf ('is_about' some 'male fertility') or ('is_about' some 'female fertility') http://www.ebi.ac.uk/efo/EFO_0006929 IgG index 'IgG index' SubClassOf 'is_about' some 'cerebrospinal fluid' http://www.ebi.ac.uk/efo/EFO_0006928 motion sickness 'motion sickness' SubClassOf 'inheres in part of' some 'ear' http://purl.obolibrary.org/obo/CL_0002144 capillary endothelial cell 'capillary endothelial cell' SubClassOf 'located_in' some 'blood vessel' http://purl.obolibrary.org/obo/UBERON_0005170 granulosa cell layer 'granulosa cell layer' SubClassOf http://purl.obolibrary.org/obo/UBERON_0012275 'granulosa cell layer' SubClassOf http://purl.obolibrary.org/obo/UBERON_0004911 http://www.ebi.ac.uk/efo/EFO_0005622 Crohn's colitis 'Crohn's colitis' SubClassOf 'Crohn's disease' 'Crohn's colitis' SubClassOf 'has_disease_location' some 'large intestine' 'Crohn's colitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024634 'Crohn's colitis' SubClassOf 'Crohn's disease' http://www.ebi.ac.uk/efo/EFO_0005623 distal colitis 'distal colitis' SubClassOf 'ulcerative colitis' 'distal colitis' SubClassOf 'ulcerative colitis' http://www.ebi.ac.uk/efo/EFO_0006953 family history of lung cancer 'family history of lung cancer' SubClassOf 'is_about' some 'lung carcinoma' http://www.ebi.ac.uk/efo/EFO_0005626 pancolitis 'pancolitis' SubClassOf 'ulcerative colitis' 'pancolitis' SubClassOf 'ulcerative colitis' http://www.ebi.ac.uk/efo/EFO_0005627 perianal Crohn's disease 'perianal Crohn's disease' SubClassOf 'Crohn's disease' 'perianal Crohn's disease' SubClassOf 'Crohn's disease' 'perianal Crohn's disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024634 'perianal Crohn's disease' SubClassOf 'has_disease_location' some 'anal region' 'perianal Crohn's disease' SubClassOf 'gastroenteritis' http://www.ebi.ac.uk/efo/EFO_0005624 ileocolitis 'ileocolitis' SubClassOf 'Crohn's disease' 'ileocolitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000709 'ileocolitis' SubClassOf 'colitis' 'ileocolitis' SubClassOf ('has_disease_location' some 'colon') and ('has_disease_location' some 'ileum') http://www.ebi.ac.uk/efo/EFO_0006956 intraocular pressure change measurement 'intraocular pressure change measurement' SubClassOf 'is_about' some 'eye' http://www.ebi.ac.uk/efo/EFO_0005625 oral Crohn's disease 'oral Crohn's disease' SubClassOf 'Crohn's disease' 'oral Crohn's disease' SubClassOf 'Crohn's disease' 'oral Crohn's disease' SubClassOf 'has_disease_location' some 'mouth' http://www.ebi.ac.uk/efo/EFO_0006955 ADAMTS13 activity measurement 'ADAMTS13 activity measurement' SubClassOf 'is_about' some 'protein' http://www.ebi.ac.uk/efo/EFO_0005628 proctitis 'proctitis' SubClassOf 'inflammatory bowel disease' 'proctitis' SubClassOf 'has_disease_location' some 'rectum' 'proctitis' SubClassOf 'inflammatory bowel disease' 'proctitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021166 'proctitis' SubClassOf 'anus disease' http://www.ebi.ac.uk/efo/EFO_0005629 small bowel Crohn's disease 'small bowel Crohn's disease' SubClassOf 'Crohn's disease' 'small bowel Crohn's disease' SubClassOf 'has_disease_location' some 'small intestine' 'small bowel Crohn's disease' SubClassOf 'Crohn's disease' 'small bowel Crohn's disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043579 http://www.ebi.ac.uk/efo/EFO_0006959 gene methylation measurement 'gene methylation measurement' SubClassOf 'is_about' some 'DNA methylation' http://www.orpha.net/ORDO/Orphanet_280195 Septopreoptic holoprosencephaly 'Septopreoptic holoprosencephaly' SubClassOf 'Holoprosencephaly' http://purl.obolibrary.org/obo/CHEBI_9011 salmeterol 'salmeterol' SubClassOf 'has_role' some 'drug role' http://www.orpha.net/ORDO/Orphanet_363189 congenital anomaly of the great veins 'congenital anomaly of the great veins' SubClassOf 'vascular disease' 'congenital anomaly of the great veins' SubClassOf 'congenital heart malformation' 'congenital anomaly of the great veins' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018723 http://www.ebi.ac.uk/efo/EFO_0005611 opioid dependence 'opioid dependence' SubClassOf 'drug dependence' 'opioid dependence' SubClassOf 'drug dependence' http://www.ebi.ac.uk/efo/EFO_0006943 blood pressure change measurement 'blood pressure change measurement' SubClassOf 'is_about' some 'blood pressure' http://www.ebi.ac.uk/efo/EFO_0005612 morphine dependence 'morphine dependence' SubClassOf 'opioid dependence' 'morphine dependence' SubClassOf 'opioid dependence' http://www.ebi.ac.uk/efo/EFO_0006942 facial pigmentation measurement 'facial pigmentation measurement' SubClassOf 'is_about' some 'skin pigmentation' http://www.ebi.ac.uk/efo/EFO_0006947 red wine liking measurement 'red wine liking measurement' SubClassOf 'is_about' some 'sensory perception of taste' http://www.ebi.ac.uk/efo/EFO_0005616 coronary artery raised atherosclerotic lesion 'coronary artery raised atherosclerotic lesion' SubClassOf 'has part' some ('quality' and ('has component' some 'abnormal') and ('inheres in part of' some 'coronary artery')) http://www.ebi.ac.uk/efo/EFO_0006946 behavioural disinhibition measurement 'behavioural disinhibition measurement' SubClassOf 'is_about' some 'mental or behavioural disorder' http://www.ebi.ac.uk/efo/EFO_0006945 diastolic blood pressure change measurement 'diastolic blood pressure change measurement' SubClassOf 'is_about' some 'diastolic blood pressure' http://www.ebi.ac.uk/efo/EFO_0006944 systolic blood pressure change measurement 'systolic blood pressure change measurement' SubClassOf 'is_about' some 'systolic blood pressure' http://www.ebi.ac.uk/efo/EFO_0006949 wine liking measurement 'wine liking measurement' SubClassOf 'is_about' some 'sensory perception of taste' http://www.ebi.ac.uk/efo/EFO_0006948 white wine liking measurement 'white wine liking measurement' SubClassOf 'is_about' some 'sensory perception of taste' http://purl.obolibrary.org/obo/CHEBI_64195 ritanserin 'ritanserin' SubClassOf ('has_role' some 'serotonergic antagonist') and ('has_role' some 'dopaminergic antagonist') http://www.ebi.ac.uk/efo/EFO_0004310 partial thromboplastin time 'partial thromboplastin time' SubClassOf ('is_about' some 'liver disease') or ('is_about' some 'Congenital factor XI deficiency') or ('is_about' some 'Congenital factor XII deficiency') or ('is_about' some 'Hemophilia') or ('is_about' some 'Von Willebrand disease') 'partial thromboplastin time' SubClassOf 'is_about' some 'blood component' http://www.ebi.ac.uk/efo/EFO_0006971 Poppelsdorf ecotype 'Poppelsdorf ecotype' SubClassOf 'part_of' some 'ecotype' http://www.ebi.ac.uk/efo/EFO_0004313 maximal midexpiratory flow rate 'maximal midexpiratory flow rate' SubClassOf 'is_about' some 'respiratory system' 'maximal midexpiratory flow rate' SubClassOf 'is_about' some 'respiratory system disease' http://www.ebi.ac.uk/efo/EFO_0004314 forced expiratory volume 'forced expiratory volume' SubClassOf 'is_about' some 'respiratory system disease' 'forced expiratory volume' SubClassOf 'is_about' some 'respiratory system' http://www.ebi.ac.uk/efo/EFO_0005645 ATC Code R Respiratory system 'ATC Code R Respiratory system' SubClassOf 'is_about' some 'respiratory system' http://www.ebi.ac.uk/efo/EFO_0006975 Nossen ecotype 'Nossen ecotype' SubClassOf 'part_of' some 'ecotype' http://www.ebi.ac.uk/efo/EFO_0004311 heart function measurement 'heart function measurement' SubClassOf 'is_about' some 'cardiovascular disease' 'heart function measurement' SubClassOf 'is_about' some 'cardiovascular system' 'heart function measurement' EquivalentTo 'measurement' and (('part_of' some 'heart') or ('is_about' some 'heart')) http://www.ebi.ac.uk/efo/EFO_0005642 ATC Code M Musculo-skeletal system 'ATC Code M Musculo-skeletal system' SubClassOf 'is_about' some 'musculature of body' http://www.ebi.ac.uk/efo/EFO_0004312 vital capacity 'vital capacity' SubClassOf 'is_about' some 'respiratory system' http://www.ebi.ac.uk/efo/EFO_0005643 ATC Code N Nervous system 'ATC Code N Nervous system' SubClassOf 'is_about' some 'nervous system' http://www.ebi.ac.uk/efo/EFO_0006973 Oystese ecotype 'Oystese ecotype' SubClassOf 'part_of' some 'ecotype' http://www.orpha.net/ORDO/Orphanet_401874 Fatal multiple mitochondrial dysfunction syndrome type 2 'Fatal multiple mitochondrial dysfunction syndrome type 2' SubClassOf 'Fatal multiple mitochondrial dysfunction syndrome' 'Fatal multiple mitochondrial dysfunction syndrome type 2' SubClassOf 'Fatal multiple mitochondrial dysfunction syndrome' http://www.ebi.ac.uk/efo/EFO_0005648 1182-4H '1182-4H' SubClassOf 'is_input_of' some 'ENCODE functional genome mapping' '1182-4H' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('embryo' and ('part_of' some 'Drosophila melanogaster')))) http://purl.obolibrary.org/obo/CHEBI_64194 paroxetine maleate 'paroxetine maleate' SubClassOf 'has_role' some 'antidepressant' http://www.ebi.ac.uk/efo/EFO_0005649 spondylolysis 'spondylolysis' SubClassOf 'bone disease' 'spondylolysis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000836 'spondylolysis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0045002 'spondylolysis' SubClassOf 'has_disease_location' some 'skeletal system' http://www.ebi.ac.uk/efo/EFO_0006979 Hilversum ecotype 'Hilversum ecotype' SubClassOf 'part_of' some 'ecotype' http://purl.obolibrary.org/obo/CHEBI_64191 nafadotride 'nafadotride' SubClassOf 'has_role' some 'drug role' http://www.ebi.ac.uk/efo/EFO_0005646 ATC Code S Sensory organs 'ATC Code S Sensory organs' SubClassOf 'is_about' some 'sensory system' http://www.ebi.ac.uk/efo/EFO_0006977 Kaunas ecotype 'Kaunas ecotype' SubClassOf 'part_of' some 'ecotype' http://www.orpha.net/ORDO/Orphanet_66518 Short fifth metacarpals - insulin resistance 'Short fifth metacarpals - insulin resistance' SubClassOf 'Rare insulin-resistance syndrome' 'Short fifth metacarpals - insulin resistance' SubClassOf 'Rare insulin-resistance syndrome' http://purl.obolibrary.org/obo/CHEBI_64187 benserazide 'benserazide' SubClassOf 'has_role' some 'drug role' http://www.orpha.net/ORDO/Orphanet_401869 Fatal multiple mitochondrial dysfunction syndrome type 1 'Fatal multiple mitochondrial dysfunction syndrome type 1' SubClassOf 'Fatal multiple mitochondrial dysfunction syndrome' 'Fatal multiple mitochondrial dysfunction syndrome type 1' SubClassOf 'Fatal multiple mitochondrial dysfunction syndrome' http://www.ebi.ac.uk/efo/EFO_0006961 Tossa de Mar ecotype 'Tossa de Mar ecotype' SubClassOf 'part_of' some 'ecotype' http://www.ebi.ac.uk/efo/EFO_0006960 Martuba ecotype 'Martuba ecotype' SubClassOf 'part_of' some 'ecotype' http://www.orpha.net/ORDO/Orphanet_401866 Spasticity-ataxia-gait anomalies syndrome 'Spasticity-ataxia-gait anomalies syndrome' SubClassOf 'Spastic ataxia' 'Spasticity-ataxia-gait anomalies syndrome' SubClassOf 'Lipoic acid biosynthesis defect' 'Spasticity-ataxia-gait anomalies syndrome' SubClassOf 'Rare syndromic dyslipidemia' 'Spasticity-ataxia-gait anomalies syndrome' SubClassOf 'Spastic ataxia' 'Spasticity-ataxia-gait anomalies syndrome' SubClassOf 'Cerebral organic aciduria' 'Spasticity-ataxia-gait anomalies syndrome' SubClassOf 'Lipoic acid biosynthesis defect' http://www.ebi.ac.uk/efo/EFO_0005633 ATC Code A Alimentary tract and metabolism 'ATC Code A Alimentary tract and metabolism' SubClassOf 'is_about' some 'metabolic process' http://www.ebi.ac.uk/efo/EFO_0006964 Hohenlieth ecotype 'Hohenlieth ecotype' SubClassOf 'part_of' some 'ecotype' http://www.ebi.ac.uk/efo/EFO_0005631 rectal adenocarcinoma 'rectal adenocarcinoma' SubClassOf 'digestive system disease' 'rectal adenocarcinoma' SubClassOf 'adenocarcinoma' 'rectal adenocarcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044937 'rectal adenocarcinoma' SubClassOf 'colorectal adenocarcinoma' 'rectal adenocarcinoma' SubClassOf 'has_disease_location' some 'rectum' http://www.orpha.net/ORDO/Orphanet_401862 Lipoyl transferase 1 deficiency 'Lipoyl transferase 1 deficiency' SubClassOf 'Lipoic acid biosynthesis defect' 'Lipoyl transferase 1 deficiency' SubClassOf 'Lipoic acid biosynthesis defect' http://www.ebi.ac.uk/efo/EFO_0004301 blood viscosity 'blood viscosity' SubClassOf 'is_about' some 'blood component' 'blood viscosity' SubClassOf 'is_about' some 'inflammatory response' http://www.ebi.ac.uk/efo/EFO_0004306 erythrocyte indices 'erythrocyte indices' SubClassOf 'is_about' some 'erythrocyte' 'erythrocyte indices' SubClassOf 'is_about' some 'blood cell' 'erythrocyte indices' SubClassOf 'is_about' some 'blood component' http://www.ebi.ac.uk/efo/EFO_0005637 ATC Code D Dermatologicals 'ATC Code D Dermatologicals' SubClassOf 'is_about' some 'hair' 'ATC Code D Dermatologicals' SubClassOf 'is_about' some 'nail' 'ATC Code D Dermatologicals' SubClassOf 'is_about' some 'zone of skin' http://www.ebi.ac.uk/efo/EFO_0006969 San Feliu ecotype 'San Feliu ecotype' SubClassOf 'part_of' some 'ecotype' http://www.ebi.ac.uk/efo/EFO_0004307 glucose tolerance test 'glucose tolerance test' SubClassOf 'is_about' some 'glucose' http://www.ebi.ac.uk/efo/EFO_0005638 ATC Code G Genito-urinary system and sex hormones 'ATC Code G Genito-urinary system and sex hormones' SubClassOf 'is_about' some 'sex hormone' 'ATC Code G Genito-urinary system and sex hormones' SubClassOf 'is_about' some 'genitourinary system' http://www.ebi.ac.uk/efo/EFO_0006968 Estland ecotype 'Estland ecotype' SubClassOf 'part_of' some 'ecotype' http://www.ebi.ac.uk/efo/EFO_0004304 blood sedimentation 'blood sedimentation' SubClassOf 'is_about' some 'blood cell' 'blood sedimentation' SubClassOf 'is_about' some 'blood component' 'blood sedimentation' SubClassOf 'is_about' some 'inflammatory response' http://www.ebi.ac.uk/efo/EFO_0005635 ATC Code B Blood and blood forming organs 'ATC Code B Blood and blood forming organs' SubClassOf 'is_about' some 'blood' http://www.ebi.ac.uk/efo/EFO_0004305 erythrocyte count 'erythrocyte count' SubClassOf 'is_about' some 'blood cell' 'erythrocyte count' SubClassOf 'is_about' some 'erythrocyte' http://www.ebi.ac.uk/efo/EFO_0005636 ATC Code C Cardiovascular system 'ATC Code C Cardiovascular system' SubClassOf 'is_about' some 'cardiovascular system' http://www.ebi.ac.uk/efo/EFO_0006966 Kindalville ecotype 'Kindalville ecotype' SubClassOf 'part_of' some 'ecotype' http://purl.obolibrary.org/obo/UBERON_0007795 ascitic fluid 'ascitic fluid' SubClassOf 'bodily fluid' 'ascitic fluid' SubClassOf http://purl.obolibrary.org/obo/UBERON_0001268 http://www.ebi.ac.uk/efo/EFO_0004308 leukocyte count 'leukocyte count' SubClassOf 'is_about' some 'blood cell' 'leukocyte count' SubClassOf 'is_about' some 'blood component' http://www.ebi.ac.uk/efo/EFO_0004309 platelet count 'platelet count' SubClassOf 'is_about' some 'blood component' 'platelet count' SubClassOf ('is_about' some 'cancer') or ('is_about' some 'chronic myelogenous leukemia') or ('is_about' some 'polycythemia vera') or ('is_about' some 'anemia') or ('is_about' some 'autoimmune disease') 'platelet count' SubClassOf 'is_about' some 'platelet' 'platelet count' SubClassOf 'is_about' some 'blood cell' http://www.orpha.net/ORDO/Orphanet_55881 Adamantinoma 'Adamantinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002415 http://www.ebi.ac.uk/efo/EFO_0004331 obsolete_tooth eruption 'obsolete_tooth eruption' SubClassOf 'obsolete class' 'obsolete_tooth eruption' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0005660 plasma beta-amyloid 1-42 measurement 'plasma beta-amyloid 1-42 measurement' SubClassOf 'is_about' some 'Alzheimer's disease' http://www.ebi.ac.uk/efo/EFO_0005661 Child Behaviour Checklist assessment 'Child Behaviour Checklist assessment' SubClassOf 'is_about' some 'mental or behavioural disorder' http://www.ebi.ac.uk/efo/EFO_0005666 thyroid peroxidase antibody measurement 'thyroid peroxidase antibody measurement' SubClassOf 'is_about' some ('autoimmune thyroid disease' and ('has_role' some 'biomarker')) 'thyroid peroxidase antibody measurement' SubClassOf 'is_about' some 'antibody' http://www.orpha.net/ORDO/Orphanet_293462 Pre-Descemet corneal dystrophy 'Pre-Descemet corneal dystrophy' SubClassOf 'Stromal corneal dystrophy' 'Pre-Descemet corneal dystrophy' SubClassOf 'Stromal corneal dystrophy' http://www.ebi.ac.uk/efo/EFO_0005665 white matter hyperintensity measurement 'white matter hyperintensity measurement' SubClassOf 'is_about' some 'brain' http://www.orpha.net/ORDO/Orphanet_255182 Pyruvate dehydrogenase E3-binding protein deficiency 'Pyruvate dehydrogenase E3-binding protein deficiency' SubClassOf 'Pyruvate dehydrogenase deficiency' 'Pyruvate dehydrogenase E3-binding protein deficiency' SubClassOf 'Pyruvate dehydrogenase deficiency' http://www.ebi.ac.uk/efo/EFO_0005668 anterior chamber depth measurement 'anterior chamber depth measurement' SubClassOf 'is_about' some 'glaucoma' 'anterior chamber depth measurement' SubClassOf 'is_about' some 'eye' http://www.ebi.ac.uk/efo/EFO_0005669 intracerebral hemorrhage 'intracerebral hemorrhage' SubClassOf 'intracranial hemorrhage' 'intracerebral hemorrhage' SubClassOf 'intracranial hemorrhage' http://www.ebi.ac.uk/efo/EFO_0006999 cancer aggressiveness measurement 'cancer aggressiveness measurement' SubClassOf 'is_about' some 'cancer' http://www.orpha.net/ORDO/Orphanet_352403 Spectrin-associated autosomal recessive cerebellar ataxia 'Spectrin-associated autosomal recessive cerebellar ataxia' SubClassOf 'Autosomal recessive cerebellar ataxia' 'Spectrin-associated autosomal recessive cerebellar ataxia' SubClassOf 'Autosomal recessive cerebellar ataxia' http://www.orpha.net/ORDO/Orphanet_77243 Lipedema 'Lipedema' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Lipedema' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019296 http://purl.obolibrary.org/obo/CL_0002193 myelocyte 'myelocyte' SubClassOf 'located_in' some 'hematopoietic system' http://purl.obolibrary.org/obo/UBERON_2000726 somite 14 'somite 14' SubClassOf http://purl.obolibrary.org/obo/UBERON_0002329 http://www.orpha.net/ORDO/Orphanet_77240 Primary lymphedema 'Primary lymphedema' SubClassOf 'Lymphedema' 'Primary lymphedema' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016233 'Primary lymphedema' SubClassOf 'Lymphedema' http://purl.obolibrary.org/obo/UBERON_2000728 somite 2 'somite 2' SubClassOf http://purl.obolibrary.org/obo/UBERON_0002329 http://www.orpha.net/ORDO/Orphanet_53271 Muenke syndrome 'Muenke syndrome' SubClassOf 'Syndromic craniosynostosis' 'Muenke syndrome' SubClassOf 'Syndromic craniosynostosis' http://purl.obolibrary.org/obo/HP_0011968 feeding difficulties 'feeding difficulties' SubClassOf 'Abdominal symptom' 'feeding difficulties' SubClassOf 'Abdominal symptom' http://purl.obolibrary.org/obo/CHEBI_64162 N-methylquipazine dimaleate 'N-methylquipazine dimaleate' SubClassOf 'has_role' some 'serotonergic drug' http://purl.obolibrary.org/obo/CHEBI_64163 diquat 'diquat' SubClassOf 'has_role' some 'agrochemical role' http://www.ebi.ac.uk/efo/EFO_0006983 Antwerpen ecotype 'Antwerpen ecotype' SubClassOf 'part_of' some 'ecotype' http://www.ebi.ac.uk/efo/EFO_0006981 Catania ecotype 'Catania ecotype' SubClassOf 'part_of' some 'ecotype' http://www.ebi.ac.uk/efo/EFO_0005650 CME-L1 'CME-L1' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('prothoracic leg disc' and 'third instar larva stage' and ('part_of' some 'Drosophila melanogaster')))) 'CME-L1' SubClassOf 'is_input_of' some 'ENCODE functional genome mapping' http://www.ebi.ac.uk/efo/EFO_0006985 Col-7 'Col-7' SubClassOf 'derives_from' some 'Col-1' http://www.ebi.ac.uk/efo/EFO_0005654 velocity of sound measurement 'velocity of sound measurement' SubClassOf 'is_about' some 'bone' 'velocity of sound measurement' SubClassOf 'is_about' some 'bone fracture' http://www.ebi.ac.uk/efo/EFO_0005659 plasma beta-amyloid 1-40 measurement 'plasma beta-amyloid 1-40 measurement' SubClassOf 'is_about' some 'Alzheimer's disease' http://www.ebi.ac.uk/efo/EFO_0004326 heart rate 'heart rate' SubClassOf 'is_about' some 'heart' http://purl.obolibrary.org/obo/UBERON_2000711 DEL cells 'DEL cells' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/HP_0011974 Myelofibrosis 'Myelofibrosis' SubClassOf 'abnormality of blood and blood-forming tissues' 'Myelofibrosis' SubClassOf 'abnormality of blood and blood-forming tissues' http://purl.obolibrary.org/obo/CLO_0022320 AG14446 'AG14446' SubClassOf 'has_quality' some 'female' 'AG14446' SubClassOf 'derives_from' some ('fibroblast' and ('part_of' some ('arm' and ('part_of' some 'Homo sapiens')))) 'AG14446' SubClassOf 'cultured cell' http://purl.obolibrary.org/obo/CHEBI_64153 tanespimycin 'tanespimycin' SubClassOf 'has_role' some 'antineoplastic agent' http://www.ebi.ac.uk/efo/EFO_0005681 Staphylococcus aureus infection 'Staphylococcus aureus infection' SubClassOf 'bacterial disease' 'Staphylococcus aureus infection' SubClassOf 'staphylococcal skin infections' 'Staphylococcus aureus infection' SubClassOf 'has_participant' some 'Staphylococcus aureus' http://purl.obolibrary.org/obo/BTO_0001383 alveolar bone 'alveolar bone' SubClassOf 'part_of' some 'mouth' http://www.ebi.ac.uk/efo/EFO_0003021 interferon alpha 'interferon alpha' SubClassOf 'has_role' some 'cytokine role' http://www.ebi.ac.uk/efo/EFO_0005684 RNA-seq of coding RNA from single cells 'RNA-seq of coding RNA from single cells' SubClassOf 'has_input' some 'single cell specimen' http://www.ebi.ac.uk/efo/EFO_0005685 RNA-seq of non coding RNA from single cells 'RNA-seq of non coding RNA from single cells' SubClassOf 'has_input' some 'single cell specimen' http://www.ebi.ac.uk/efo/EFO_0003023 interferon beta 'interferon beta' SubClassOf 'has_role' some 'cytokine role' http://www.ebi.ac.uk/efo/EFO_0005682 oxygen saturation measurement 'oxygen saturation measurement' SubClassOf 'is_about' some 'respiratory system' http://www.ebi.ac.uk/efo/EFO_0004352 mortality 'mortality' SubClassOf 'is_about' some 'population' http://www.ebi.ac.uk/efo/EFO_0003022 interferon alpha 2a 'interferon alpha 2a' SubClassOf 'has_role' some 'cytokine role' http://www.ebi.ac.uk/efo/EFO_0005683 obsolete_plant callus 'obsolete_plant callus' SubClassOf 'obsolete class' 'obsolete_plant callus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003025 acute megakaryoblastic leukaemia 'acute megakaryoblastic leukaemia' SubClassOf 'acute myeloid leukemia' 'acute megakaryoblastic leukaemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0011118 'acute megakaryoblastic leukaemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015667 http://www.ebi.ac.uk/efo/EFO_0004357 electroencephalogram measurement 'electroencephalogram measurement' SubClassOf 'is_about' some 'brain' http://www.ebi.ac.uk/efo/EFO_0003024 interferon gamma 'interferon gamma' SubClassOf 'has_role' some 'cytokine role' http://www.ebi.ac.uk/efo/EFO_0005689 non-high density lipoprotein cholesterol measurement 'non-high density lipoprotein cholesterol measurement' SubClassOf 'is_about' some 'coronary heart disease' 'non-high density lipoprotein cholesterol measurement' SubClassOf 'is_about' some 'lipid' 'non-high density lipoprotein cholesterol measurement' SubClassOf 'is_about' some 'NHDL cholesterol' http://www.ebi.ac.uk/efo/EFO_0003027 acute myeloblastic leukemia without maturation 'acute myeloblastic leukemia without maturation' SubClassOf 'acute myeloid leukemia' 'acute myeloblastic leukemia without maturation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0011118 http://www.ebi.ac.uk/efo/EFO_0004355 obsolete_sensation 'obsolete_sensation' SubClassOf 'obsolete class' 'obsolete_sensation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003026 minimally differentiated acute myeloblastic leukemia 'minimally differentiated acute myeloblastic leukemia' SubClassOf 'acute myeloid leukemia' 'minimally differentiated acute myeloblastic leukemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015667 'minimally differentiated acute myeloblastic leukemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0011118 http://www.ebi.ac.uk/efo/EFO_0004356 obsolete_taste 'obsolete_taste' SubClassOf 'obsolete class' 'obsolete_taste' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0005687 fibromyalgia 'fibromyalgia' SubClassOf 'muscular disease' 'fibromyalgia' SubClassOf 'has_disease_location' some 'skeletal muscle organ' 'fibromyalgia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024317 'fibromyalgia' SubClassOf 'myositis' 'fibromyalgia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 http://www.ebi.ac.uk/efo/EFO_0003029 acute basophilic leukemia 'acute basophilic leukemia' SubClassOf 'acute myeloid leukemia' 'acute basophilic leukemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0011118 http://www.ebi.ac.uk/efo/EFO_0003028 acute myeloblastic leukemia with maturation 'acute myeloblastic leukemia with maturation' SubClassOf 'acute myeloid leukemia' 'acute myeloblastic leukemia with maturation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0011118 http://purl.obolibrary.org/obo/CHEBI_52172 nilotinib 'nilotinib' SubClassOf 'has_role' some 'antineoplastic agent' http://purl.obolibrary.org/obo/CHEBI_64142 tropanyl 3,5-dimethylbenzoate 'tropanyl 3,5-dimethylbenzoate' SubClassOf 'has_role' some 'serotonergic antagonist' http://www.ebi.ac.uk/efo/EFO_0005673 chronic mucus hypersecretion 'chronic mucus hypersecretion' SubClassOf 'has modifier' some 'chronic' http://purl.obolibrary.org/obo/CHEBI_64147 5-nonyloxytryptamine oxalate '5-nonyloxytryptamine oxalate' SubClassOf 'has_role' some 'drug role' http://www.ebi.ac.uk/efo/EFO_0005674 white matter microstructure measurement 'white matter microstructure measurement' SubClassOf 'is_about' some 'brain' http://www.ebi.ac.uk/efo/EFO_0004340 body mass index 'body mass index' SubClassOf 'is_about' some 'obesity' http://www.ebi.ac.uk/efo/EFO_0005671 smoking behaviour measurement 'smoking behaviour measurement' EquivalentTo 'is_about' some 'smoking behavior' http://www.ebi.ac.uk/efo/EFO_0005672 acute coronary syndrome 'acute coronary syndrome' SubClassOf 'heart disease' 'acute coronary syndrome' SubClassOf 'Myocardial Ischemia' 'acute coronary syndrome' SubClassOf http://purl.obolibrary.org/obo/RO_0004022 some 'coronary artery disease' 'acute coronary syndrome' SubClassOf 'has_disease_location' some 'heart' 'acute coronary syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 http://www.ebi.ac.uk/efo/EFO_0003014 breast fibrocystic disease 'breast fibrocystic disease' SubClassOf 'breast disease' 'breast fibrocystic disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002051 'breast fibrocystic disease' SubClassOf 'has_disease_location' some 'mammary gland' http://www.ebi.ac.uk/efo/EFO_0004346 neuroimaging measurement 'neuroimaging measurement' SubClassOf 'is_about' some 'central nervous system' http://www.ebi.ac.uk/efo/EFO_0005677 puberty onset measurement 'puberty onset measurement' SubClassOf 'is_about' some 'puberty' http://www.ebi.ac.uk/efo/EFO_0005678 hippocampal sclerosis of aging 'hippocampal sclerosis of aging' SubClassOf 'nervous system disease' 'hippocampal sclerosis of aging' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044996 'hippocampal sclerosis of aging' SubClassOf 'disease has feature' some http://purl.obolibrary.org/obo/MONDO_0100035 http://www.ebi.ac.uk/efo/EFO_0003016 collecting duct carcinoma 'collecting duct carcinoma' SubClassOf 'renal cell carcinoma' 'collecting duct carcinoma' SubClassOf 'renal cell carcinoma' http://www.ebi.ac.uk/efo/EFO_0005675 vitamin D-binding protein measurement 'vitamin D-binding protein measurement' SubClassOf 'is_about' some 'protein' http://www.ebi.ac.uk/efo/EFO_0004345 corneal topography 'corneal topography' SubClassOf 'is_about' some 'eye' 'corneal topography' SubClassOf 'is_about' some 'eye disease' http://www.ebi.ac.uk/efo/EFO_0005676 Autoimmune Hepatitis 'Autoimmune Hepatitis' SubClassOf 'has phenotype' some 'hepatitis' 'Autoimmune Hepatitis' SubClassOf 'has_disease_location' some 'liver' 'Autoimmune Hepatitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000569 'Autoimmune Hepatitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000588 'Autoimmune Hepatitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000586 'Autoimmune Hepatitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021166 'Autoimmune Hepatitis' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://www.ebi.ac.uk/efo/EFO_0003017 transitional cell carcinoma of kidney 'transitional cell carcinoma of kidney' SubClassOf 'renal carcinoma' 'transitional cell carcinoma of kidney' SubClassOf 'renal pelvis carcinoma' 'transitional cell carcinoma of kidney' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020654 http://www.ebi.ac.uk/efo/EFO_0004348 hematocrit 'hematocrit' SubClassOf 'is_about' some 'blood cell' 'hematocrit' SubClassOf 'is_about' some 'blood component' 'hematocrit' SubClassOf ('is_about' some 'hemorrhage') or ('is_about' some 'leukemia') or ('is_about' some 'vitamin B12 deficiency') or ('is_about' some 'folate deficiency') or ('is_about' some 'polycythemia vera') or ('is_about' some 'anemia') or ('is_about' some 'congenital heart disease') http://www.ebi.ac.uk/efo/EFO_0005679 obsolete_conotruncal heart defect 'obsolete_conotruncal heart defect' SubClassOf 'obsolete class' 'obsolete_conotruncal heart defect' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/CLO_0035608 AG07139 'AG07139' SubClassOf 'has_quality' some 'female' 'AG07139' SubClassOf 'derives_from' some ('fibroblast' and ('part_of' some ('arm' and ('part_of' some 'Homo sapiens')))) 'AG07139' SubClassOf 'cultured cell' http://purl.obolibrary.org/obo/CHEBI_9008 salicyluric acid 'salicyluric acid' SubClassOf 'chemical entity' 'salicyluric acid' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_280183 Methylmalonic aciduria due to transcobalamin receptor defect 'Methylmalonic aciduria due to transcobalamin receptor defect' SubClassOf 'Disorder of cobalamin metabolism and transport' 'Methylmalonic aciduria due to transcobalamin receptor defect' SubClassOf 'Disorder of cobalamin metabolism and transport' 'Methylmalonic aciduria due to transcobalamin receptor defect' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002012 http://www.ebi.ac.uk/efo/EFO_0003041 obsolete_esophageal epithelium 'obsolete_esophageal epithelium' SubClassOf 'obsolete class' 'obsolete_esophageal epithelium' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003040 embryonic cell line 'embryonic cell line' EquivalentTo 'derives_from' some ('cell type' and ('part_of' some (('embryo' or 'embryonic structure') and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_0003043 NCI-H1299 'NCI-H1299' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'NCI-H1299' SubClassOf 'bearer_of' some 'lung carcinoma' http://www.ebi.ac.uk/efo/EFO_0003042 H1-hESC 'H1-hESC' SubClassOf 'derives_from' some ('embryonic stem cell' and ('part_of' some ('embryo' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003045 H9 'H9' SubClassOf 'derives_from' some ('embryonic stem cell' and ('part_of' some ('embryo' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003044 NCI-H460 'NCI-H460' SubClassOf 'bearer_of' some 'large cell lung carcinoma' 'NCI-H460' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003047 hepatitis C infection 'hepatitis C infection' SubClassOf 'viral human hepatitis infection' 'hepatitis C infection' SubClassOf 'Flaviviridae infectious disease' 'hepatitis C infection' SubClassOf 'viral human hepatitis infection' 'hepatitis C infection' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024294 http://www.ebi.ac.uk/efo/EFO_0003046 heart transplant rejection 'heart transplant rejection' SubClassOf 'occurs in' some 'heart' http://www.ebi.ac.uk/efo/EFO_0003049 obsolete_ilium 'obsolete_ilium' SubClassOf 'obsolete class' 'obsolete_ilium' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003048 HES2 'HES2' SubClassOf 'derives_from' some ('embryonic stem cell' and ('part_of' some ('embryo' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/CLO_0022371 AG11726 'AG11726' SubClassOf 'derives_from' some ('fibroblast' and ('part_of' some ('arm' and ('part_of' some 'Homo sapiens')))) 'AG11726' SubClassOf 'cultured cell' 'AG11726' SubClassOf 'has_quality' some 'female' http://www.orpha.net/ORDO/Orphanet_352447 Progressive external ophthalmoplegia - myopathy - emaciation 'Progressive external ophthalmoplegia - myopathy - emaciation' SubClassOf 'Mitochondrial DNA maintenance syndrome' 'Progressive external ophthalmoplegia - myopathy - emaciation' SubClassOf 'Mitochondrial DNA depletion syndrome' http://www.ebi.ac.uk/efo/EFO_0003030 abscess 'abscess' SubClassOf 'bacterial disease' 'abscess' SubClassOf 'bacterial disease' http://purl.obolibrary.org/obo/CHEBI_15193 tartrate(2-) 'tartrate(2-)' SubClassOf 'chemical entity' 'tartrate(2-)' SubClassOf 'chemical entity' http://www.ebi.ac.uk/efo/EFO_0003032 anaplastic large cell lymphoma 'anaplastic large cell lymphoma' SubClassOf 'neoplasm of mature T-cells or NK-cells' 'anaplastic large cell lymphoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000430 http://www.ebi.ac.uk/efo/EFO_0005696 D721Med 'D721Med' SubClassOf 'bearer_of' some 'medulloblastoma' 'D721Med' SubClassOf 'derives_from' some ('neural cell' and ('part_of' some ('brain' and ('part_of' some 'Homo sapiens')))) 'D721Med' SubClassOf 'has_quality' some 'male' http://www.ebi.ac.uk/efo/EFO_0003033 bacteriemia 'bacteriemia' SubClassOf 'bacterial disease' 'bacteriemia' SubClassOf 'bacterial disease' http://www.ebi.ac.uk/efo/EFO_0005694 KMS-11 'KMS-11' SubClassOf 'has_quality' some 'female' 'KMS-11' SubClassOf 'derives_from' some 'Japanese' 'KMS-11' SubClassOf 'derives_from' some ('lymphoblast' and ('part_of' some ('lymphatic part of lymphoid system' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0005699 desmoplastic medulloblastoma 'desmoplastic medulloblastoma' SubClassOf 'medulloblastoma' 'desmoplastic medulloblastoma' SubClassOf 'medulloblastoma' http://www.ebi.ac.uk/efo/EFO_0003035 cellulitis 'cellulitis' SubClassOf 'skin disease' 'cellulitis' SubClassOf 'has_disease_location' some 'zone of skin' 'cellulitis' SubClassOf 'vesiculobullous skin disease' 'cellulitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024295 http://www.ebi.ac.uk/efo/EFO_0004369 obsolete_microgram per milliliter 'obsolete_microgram per milliliter' SubClassOf 'obsolete class' 'obsolete_microgram per milliliter' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003038 obsolete_colon mucosa 'obsolete_colon mucosa' SubClassOf 'obsolete class' 'obsolete_colon mucosa' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0005697 M059J 'M059J' SubClassOf 'bearer_of' some 'glioblastoma multiforme' 'M059J' SubClassOf 'has_quality' some 'male' 'M059J' SubClassOf 'derives_from' some ('glial cell' and ('part_of' some ('brain' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003037 CMK 'CMK' SubClassOf 'bearer_of' some 'acute megakaryoblastic leukaemia' 'CMK' SubClassOf 'derives_from' some ('megakaryocyte' and ('part_of' some ('blood' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0005698 Daoy 'Daoy' SubClassOf 'derives_from' some 'European' 'Daoy' SubClassOf 'derives_from' some ('neural cell' and ('part_of' some ('cerebellum' and ('part_of' some 'Homo sapiens')))) 'Daoy' SubClassOf 'has_quality' some 'male' 'Daoy' SubClassOf 'bearer_of' some 'desmoplastic medulloblastoma' http://www.ebi.ac.uk/efo/EFO_0003039 EAhy 926 cell 'EAhy 926 cell' SubClassOf 'bearer_of' some 'lung carcinoma' 'EAhy 926 cell' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/CLO_0022362 AG11696 'AG11696' SubClassOf 'has_quality' some 'female' 'AG11696' SubClassOf 'cultured cell' 'AG11696' SubClassOf 'derives_from' some ('fibroblast' and ('part_of' some ('arm' and ('part_of' some 'Homo sapiens')))) http://www.orpha.net/ORDO/Orphanet_352456 Mitochondrial DNA maintenance syndrome 'Mitochondrial DNA maintenance syndrome' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' 'Mitochondrial DNA maintenance syndrome' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' http://purl.obolibrary.org/obo/CHEBI_1941 4-(trimethylammonio)butanoic acid '4-(trimethylammonio)butanoic acid' SubClassOf 'chemical entity' '4-(trimethylammonio)butanoic acid' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_64115 (1S,2R)-5-methoxy-1-methyl-2-(propylamino)tetralin hydrochloride '(1S,2R)-5-methoxy-1-methyl-2-(propylamino)tetralin hydrochloride' SubClassOf 'has_role' some 'dopaminergic antagonist' http://purl.obolibrary.org/obo/CHEBI_64119 (S)-(-)-sulpiride '(S)-(-)-sulpiride' SubClassOf 'has_role' some 'antipsychotic drug' http://www.ebi.ac.uk/efo/EFO_0003061 OVCAR3 'OVCAR3' SubClassOf 'bearer_of' some 'ovarian carcinoma' 'OVCAR3' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('female gonad' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003060 non-small cell lung carcinoma 'non-small cell lung carcinoma' SubClassOf 'lung carcinoma' 'non-small cell lung carcinoma' SubClassOf 'lung carcinoma' http://www.ebi.ac.uk/efo/EFO_0003063 polymyositis 'polymyositis' SubClassOf 'myositis' 'polymyositis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019724 'polymyositis' SubClassOf 'myositis' 'polymyositis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020122 http://www.ebi.ac.uk/efo/EFO_0003062 obsolete_peroneal nerve 'obsolete_peroneal nerve' SubClassOf 'obsolete class' 'obsolete_peroneal nerve' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003065 obsolete_foot 'obsolete_foot' SubClassOf 'obsolete class' 'obsolete_foot' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003064 primary cell line 'primary cell line' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_0003066 obsolete_rib 'obsolete_rib' SubClassOf 'obsolete class' 'obsolete_rib' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003069 obsolete_elbow 'obsolete_elbow' SubClassOf 'obsolete class' 'obsolete_elbow' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003068 obsolete_shoulder 'obsolete_shoulder' SubClassOf 'obsolete class' 'obsolete_shoulder' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_53296 Familial cutaneous collagenoma 'Familial cutaneous collagenoma' SubClassOf 'Genetic dermis elastic tissue disorder' 'Familial cutaneous collagenoma' SubClassOf 'Genetic dermis elastic tissue disorder' http://www.orpha.net/ORDO/Orphanet_77261 Gaucher disease type 3 'Gaucher disease type 3' SubClassOf 'Gaucher disease' 'Gaucher disease type 3' SubClassOf 'Neurometabolic disease' 'Gaucher disease type 3' SubClassOf 'Rare hereditary disease with avascular necrosis' 'Gaucher disease type 3' SubClassOf 'Lysosomal disease with restrictive cardiomyopathy' 'Gaucher disease type 3' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044976 'Gaucher disease type 3' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017024 'Gaucher disease type 3' SubClassOf 'Gaucher disease' 'Gaucher disease type 3' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018299 'Gaucher disease type 3' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020143 'Gaucher disease type 3' SubClassOf 'Neurometabolic disease' 'Gaucher disease type 3' SubClassOf 'Rare hereditary disease with avascular necrosis' http://purl.obolibrary.org/obo/BTO_0000018 A-549 cell 'A-549 cell' SubClassOf 'cultured cell' and ('bearer_of' some 'lung carcinoma') http://www.orpha.net/ORDO/Orphanet_280133 Complement component 3 deficiency 'Complement component 3 deficiency' SubClassOf 'Immunodeficiency due to a complement cascade protein anomaly' 'Complement component 3 deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000015 http://www.ebi.ac.uk/efo/EFO_0003070 obsolete_buttock 'obsolete_buttock' SubClassOf 'obsolete class' 'obsolete_buttock' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_77260 Gaucher disease type 2 'Gaucher disease type 2' SubClassOf 'Gaucher disease' 'Gaucher disease type 2' SubClassOf 'Neurometabolic disease' 'Gaucher disease type 2' SubClassOf 'Gaucher disease' 'Gaucher disease type 2' SubClassOf 'Neurometabolic disease' 'Gaucher disease type 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018299 'Gaucher disease type 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017024 'Gaucher disease type 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020143 'Gaucher disease type 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044976 http://www.ebi.ac.uk/efo/EFO_0003050 large cell lung carcinoma 'large cell lung carcinoma' SubClassOf 'lung carcinoma' 'large cell lung carcinoma' SubClassOf 'non-small cell lung carcinoma' 'large cell lung carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0005232 http://www.ebi.ac.uk/efo/EFO_0003052 obsolete_fibula 'obsolete_fibula' SubClassOf 'obsolete class' 'obsolete_fibula' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003051 obsolete_calf 'obsolete_calf' SubClassOf 'obsolete class' 'obsolete_calf' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003054 obsolete_tibia 'obsolete_tibia' SubClassOf 'obsolete class' 'obsolete_tibia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_65287 Beta-ureidopropionase deficiency 'Beta-ureidopropionase deficiency' SubClassOf 'Neurometabolic disease' 'Beta-ureidopropionase deficiency' SubClassOf 'Disorder of pyrimidine metabolism' 'Beta-ureidopropionase deficiency' SubClassOf 'Neurometabolic disease' 'Beta-ureidopropionase deficiency' SubClassOf 'Disorder of pyrimidine metabolism' 'Beta-ureidopropionase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016404 http://www.ebi.ac.uk/efo/EFO_0003053 obsolete_forearm 'obsolete_forearm' SubClassOf 'obsolete class' 'obsolete_forearm' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_65286 3q29 microdeletion syndrome '3q29 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 3' '3q29 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 3' '3q29 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000761 http://www.ebi.ac.uk/efo/EFO_0003056 M14 'M14' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'M14' SubClassOf 'bearer_of' some 'melanoma' http://www.ebi.ac.uk/efo/EFO_0003055 LP1 'LP1' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.orpha.net/ORDO/Orphanet_65288 Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis 'Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis' SubClassOf 'Genetic syndrome with a cerebellar malformation as major feature' 'Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis' SubClassOf 'Neonatal diabetes mellitus' 'Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis' SubClassOf 'Inborn errors of metabolism' 'Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis' SubClassOf 'Rare genetic neurological disorder' 'Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis' SubClassOf 'Developmental anomaly of metabolic origin' 'Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis' SubClassOf 'Genetic syndrome with a cerebellar malformation as major feature' 'Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis' SubClassOf 'Neonatal diabetes mellitus' http://www.ebi.ac.uk/efo/EFO_0003058 obsolete_NCIH460 'obsolete_NCIH460' SubClassOf 'obsolete class' 'obsolete_NCIH460' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_65283 Timothy syndrome 'Timothy syndrome' SubClassOf 'Familial long QT syndrome' 'Timothy syndrome' SubClassOf 'Familial long QT syndrome' 'Timothy syndrome' SubClassOf 'disease has feature' some 'ventricular fibrillation' 'Timothy syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 http://www.ebi.ac.uk/efo/EFO_0003057 obsolete_mediastinum 'obsolete_mediastinum' SubClassOf 'obsolete class' 'obsolete_mediastinum' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_65285 Lhermitte-Duclos disease 'Lhermitte-Duclos disease' SubClassOf 'Genetic syndrome with a cerebellar malformation as major feature' 'Lhermitte-Duclos disease' SubClassOf 'Rare genetic neurological disorder' 'Lhermitte-Duclos disease' SubClassOf 'Genetic syndrome with a cerebellar malformation as major feature' 'Lhermitte-Duclos disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016729 http://www.ebi.ac.uk/efo/EFO_0004389 UCH-1 'UCH-1' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('sacrum' and ('part_of' some 'Homo sapiens')))) http://www.orpha.net/ORDO/Orphanet_65284 Biotin-responsive basal ganglia disease 'Biotin-responsive basal ganglia disease' SubClassOf 'Neurometabolic disease' 'Biotin-responsive basal ganglia disease' SubClassOf 'Disorder of thiamine metabolism and transport' 'Biotin-responsive basal ganglia disease' SubClassOf 'basal ganglia disease' 'Biotin-responsive basal ganglia disease' SubClassOf 'Neurometabolic disease' 'Biotin-responsive basal ganglia disease' SubClassOf 'basal ganglia disease' 'Biotin-responsive basal ganglia disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000152 http://www.orpha.net/ORDO/Orphanet_77258 Trichorhinophalangeal syndrome type 1 and 3 'Trichorhinophalangeal syndrome type 1 and 3' SubClassOf 'Trichorhinophalangeal syndrome' 'Trichorhinophalangeal syndrome type 1 and 3' SubClassOf 'Trichorhinophalangeal syndrome' 'Trichorhinophalangeal syndrome type 1 and 3' SubClassOf http://purl.obolibrary.org/obo/MONDO_0008596 http://www.orpha.net/ORDO/Orphanet_77259 Gaucher disease type 1 'Gaucher disease type 1' SubClassOf 'Rare hereditary disease with avascular necrosis' 'Gaucher disease type 1' SubClassOf 'Gaucher disease' 'Gaucher disease type 1' SubClassOf 'Rare hereditary disease with avascular necrosis' 'Gaucher disease type 1' SubClassOf 'Lysosomal disease with restrictive cardiomyopathy' 'Gaucher disease type 1' SubClassOf 'Gaucher disease' 'Gaucher disease type 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017037 'Gaucher disease type 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020143 http://purl.obolibrary.org/obo/UBERON_2000732 somite 3 'somite 3' SubClassOf http://purl.obolibrary.org/obo/UBERON_0002329 http://www.orpha.net/ORDO/Orphanet_352479 Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency 'Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' 'Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency' SubClassOf 'Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' 'Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency' SubClassOf 'Disorder of O-mannosylglycan synthesis' 'Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' 'Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency' SubClassOf 'Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' 'Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000173 'Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency' SubClassOf 'Disorder of O-mannosylglycan synthesis' http://purl.obolibrary.org/obo/BTO_0000007 HEK-293 cell 'HEK-293 cell' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('kidney' and ('part_of' some 'organism')))) 'HEK-293 cell' SubClassOf 'derives_from' some ('cell type' and ('part_of' some (('developmental stage' or 'organism part') and ('part_of' some 'Homo sapiens')))) http://www.orpha.net/ORDO/Orphanet_352470 Mitochondrial DNA deletion syndrome with progressive myopathy 'Mitochondrial DNA deletion syndrome with progressive myopathy' SubClassOf 'Multiple mitochondrial DNA deletion syndrome' 'Mitochondrial DNA deletion syndrome with progressive myopathy' SubClassOf 'Mitochondrial myopathy' 'Mitochondrial DNA deletion syndrome with progressive myopathy' SubClassOf 'Multiple mitochondrial DNA deletion syndrome' 'Mitochondrial DNA deletion syndrome with progressive myopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000090 http://www.orpha.net/ORDO/Orphanet_280142 Severe combined immunodeficiency due to LCK deficiency 'Severe combined immunodeficiency due to LCK deficiency' SubClassOf 'T-B- severe combined immunodeficiency' 'Severe combined immunodeficiency due to LCK deficiency' SubClassOf 'T-B- severe combined immunodeficiency' http://www.orpha.net/ORDO/Orphanet_231137 Silver-Russell syndrome due to 7p11.2p13 microduplication 'Silver-Russell syndrome due to 7p11.2p13 microduplication' SubClassOf 'Partial duplication of the short arm of chromosome 7' 'Silver-Russell syndrome due to 7p11.2p13 microduplication' SubClassOf 'Silver-Russell syndrome' 'Silver-Russell syndrome due to 7p11.2p13 microduplication' SubClassOf 'Partial duplication of the short arm of chromosome 7' 'Silver-Russell syndrome due to 7p11.2p13 microduplication' SubClassOf 'Silver-Russell syndrome' http://www.ebi.ac.uk/efo/EFO_0004298 cardiovascular measurement 'cardiovascular measurement' EquivalentTo 'measurement' and (('is_about' some 'cardiovascular system') or ('is_about' some 'cardiovascular disease')) http://www.orpha.net/ORDO/Orphanet_91387 Familial thoracic aortic aneurysm and aortic dissection 'Familial thoracic aortic aneurysm and aortic dissection' SubClassOf 'Rare disease with thoracic aortic aneurysm and aortic dissection' 'Familial thoracic aortic aneurysm and aortic dissection' SubClassOf 'Rare disease with thoracic aortic aneurysm and aortic dissection' http://www.orpha.net/ORDO/Orphanet_231130 Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion 'Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion' SubClassOf 'Beckwith-Wiedemann syndrome' 'Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion' SubClassOf 'Complex chromosomal rearrangement' 'Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion' SubClassOf 'Beckwith-Wiedemann syndrome' 'Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion' SubClassOf 'Complex chromosomal rearrangement' 'Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019717 http://purl.obolibrary.org/obo/CHEBI_29693 thiostrepton 'thiostrepton' SubClassOf 'has_role' some 'antibacterial drug' http://www.orpha.net/ORDO/Orphanet_91396 Isolated cryptophthalmia 'Isolated cryptophthalmia' SubClassOf 'Cryptophthalmia' 'Isolated cryptophthalmia' SubClassOf 'Non-syndromic developmental defect of the eye' 'Isolated cryptophthalmia' EquivalentTo 'Cryptophthalmia' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021128) 'Isolated cryptophthalmia' SubClassOf 'Cryptophthalmia' 'Isolated cryptophthalmia' SubClassOf 'Non-syndromic developmental defect of the eye' http://purl.obolibrary.org/obo/CHEBI_28368 novobiocin 'novobiocin' SubClassOf 'has_role' some 'antimicrobial agent' http://purl.obolibrary.org/obo/CHEBI_29699 tunicamycin 'tunicamycin' SubClassOf 'has_role' some 'antimicrobial agent' http://www.ebi.ac.uk/efo/EFO_0004283 goiter 'goiter' SubClassOf 'endocrine system disease' 'goiter' SubClassOf 'thyroid disease' http://www.orpha.net/ORDO/Orphanet_231127 Beckwith-Wiedemann syndrome due to 11p15 microdeletion 'Beckwith-Wiedemann syndrome due to 11p15 microdeletion' SubClassOf 'Partial deletion of the short arm of chromosome 11' 'Beckwith-Wiedemann syndrome due to 11p15 microdeletion' SubClassOf 'Beckwith-Wiedemann syndrome' 'Beckwith-Wiedemann syndrome due to 11p15 microdeletion' SubClassOf 'Partial deletion of the short arm of chromosome 11' 'Beckwith-Wiedemann syndrome due to 11p15 microdeletion' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019717 'Beckwith-Wiedemann syndrome due to 11p15 microdeletion' SubClassOf 'Beckwith-Wiedemann syndrome' http://www.ebi.ac.uk/efo/EFO_0004284 upper aerodigestive tract neoplasm 'upper aerodigestive tract neoplasm' SubClassOf 'neoplasm' 'upper aerodigestive tract neoplasm' SubClassOf 'has_disease_location' some ('digestive system' or ('part_of' some 'digestive system')) 'upper aerodigestive tract neoplasm' SubClassOf 'neoplasm' http://www.ebi.ac.uk/efo/EFO_0004282 thoracic aortic aneurysm 'thoracic aortic aneurysm' SubClassOf 'aortic aneurysm' 'thoracic aortic aneurysm' SubClassOf 'aortic aneurysm' http://www.ebi.ac.uk/efo/EFO_0004287 ventricular fibrillation 'ventricular fibrillation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0007263 http://www.ebi.ac.uk/efo/EFO_0004288 colonic neoplasm 'colonic neoplasm' SubClassOf 'neoplasm' 'colonic neoplasm' SubClassOf 'digestive system disease' 'colonic neoplasm' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003409 'colonic neoplasm' EquivalentTo 'neoplasm' and ('has_disease_location' some ('colon' or ('part_of' some 'colon'))) 'colonic neoplasm' SubClassOf 'colorectal neoplasm' http://www.orpha.net/ORDO/Orphanet_91397 Isolated ankyloblepharon filiforme adnatum 'Isolated ankyloblepharon filiforme adnatum' SubClassOf 'Eyelid border anomaly' 'Isolated ankyloblepharon filiforme adnatum' SubClassOf 'Syndrome or malformation associated with head and neck malformations' 'Isolated ankyloblepharon filiforme adnatum' SubClassOf 'Non-syndromic developmental defect of the eye' 'Isolated ankyloblepharon filiforme adnatum' SubClassOf 'Eyelid border anomaly' 'Isolated ankyloblepharon filiforme adnatum' SubClassOf 'Syndrome or malformation associated with head and neck malformations' 'Isolated ankyloblepharon filiforme adnatum' SubClassOf 'Non-syndromic developmental defect of the eye' 'Isolated ankyloblepharon filiforme adnatum' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 http://www.ebi.ac.uk/efo/EFO_0004286 venous thromboembolism 'venous thromboembolism' SubClassOf 'vascular disease' 'venous thromboembolism' SubClassOf 'vascular disease' http://www.ebi.ac.uk/efo/EFO_0004289 lymphoid leukemia 'lymphoid leukemia' SubClassOf 'leukemia' 'lymphoid leukemia' SubClassOf 'lymphoid neoplasm' 'lymphoid leukemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001018 http://www.orpha.net/ORDO/Orphanet_231120 Beckwith-Wiedemann syndrome due to CDKN1C mutation 'Beckwith-Wiedemann syndrome due to CDKN1C mutation' SubClassOf 'Beckwith-Wiedemann syndrome' 'Beckwith-Wiedemann syndrome due to CDKN1C mutation' SubClassOf 'Beckwith-Wiedemann syndrome' http://purl.obolibrary.org/obo/CHEBI_17698 chloramphenicol 'chloramphenicol' SubClassOf 'has_role' some 'antimicrobial agent' http://purl.obolibrary.org/obo/UBERON_2000674 interopercle 'interopercle' SubClassOf http://purl.obolibrary.org/obo/UBERON_0008907 http://purl.obolibrary.org/obo/UBERON_2000677 segmental intercostal artery 'segmental intercostal artery' SubClassOf 'artery' 'segmental intercostal artery' SubClassOf 'develops_from' some 'endothelium' 'segmental intercostal artery' SubClassOf 'develops_from' some 'trunk mesenchyme' 'segmental intercostal artery' SubClassOf http://purl.obolibrary.org/obo/UBERON_0005612 'segmental intercostal artery' SubClassOf 'develops_from' some 'artery' 'segmental intercostal artery' SubClassOf 'develops_from' some 'aorta' 'segmental intercostal artery' SubClassOf 'part_of' some 'trunk' http://www.ebi.ac.uk/efo/EFO_0004290 obsolete_sneezing 'obsolete_sneezing' SubClassOf 'obsolete class' 'obsolete_sneezing' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/CHEBI_16393 sphingosine 'sphingosine' SubClassOf 'lipid' 'sphingosine' SubClassOf 'lipid' http://www.orpha.net/ORDO/Orphanet_231154 Combined immunodeficiency T+ B+ due to partial RAG1 deficiency 'Combined immunodeficiency T+ B+ due to partial RAG1 deficiency' SubClassOf 'Combined T and B cell immunodeficiency' 'Combined immunodeficiency T+ B+ due to partial RAG1 deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018814 http://purl.obolibrary.org/obo/CHEBI_28340 L-2-aminobutyrate 'L-2-aminobutyrate' SubClassOf 'chemical entity' 'L-2-aminobutyrate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_30660 thyroxine 'thyroxine' SubClassOf 'has_role' some 'hormone role' http://purl.obolibrary.org/obo/CHEBI_42638 flufenamic acid 'flufenamic acid' SubClassOf ('has_role' some 'non-steroidal anti-inflammatory drug') or ('has_role' some 'non-narcotic analgesic') or ('has_role' some 'antipyretic') http://www.orpha.net/ORDO/Orphanet_231144 Silver-Russell syndrome due to 11p15 microduplication 'Silver-Russell syndrome due to 11p15 microduplication' SubClassOf 'Partial duplication of the short arm of chromosome 11' 'Silver-Russell syndrome due to 11p15 microduplication' SubClassOf 'Silver-Russell syndrome' 'Silver-Russell syndrome due to 11p15 microduplication' SubClassOf 'Partial duplication of the short arm of chromosome 11' 'Silver-Russell syndrome due to 11p15 microduplication' SubClassOf 'Silver-Russell syndrome' http://www.orpha.net/ORDO/Orphanet_231147 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 'Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11' SubClassOf 'Silver-Russell syndrome' 'Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11' SubClassOf 'Uniparental disomy of maternal origin' 'Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11' SubClassOf 'Silver-Russell syndrome' 'Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11' SubClassOf 'Uniparental disomy of maternal origin' http://www.orpha.net/ORDO/Orphanet_231140 Silver-Russell syndrome due to imprinting defect of 11p15 'Silver-Russell syndrome due to imprinting defect of 11p15' SubClassOf 'Silver-Russell syndrome' 'Silver-Russell syndrome due to imprinting defect of 11p15' SubClassOf 'Silver-Russell syndrome' http://purl.obolibrary.org/obo/UBERON_2000657 entopterygoid 'entopterygoid' SubClassOf http://purl.obolibrary.org/obo/UBERON_0008907 'entopterygoid' SubClassOf http://purl.obolibrary.org/obo/UBERON_0011597 http://www.orpha.net/ORDO/Orphanet_220497 Joubert syndrome with renal defect 'Joubert syndrome with renal defect' SubClassOf 'Familial cystic renal disease' 'Joubert syndrome with renal defect' SubClassOf 'Joubert syndrome and related disorders' 'Joubert syndrome with renal defect' SubClassOf 'Genetic syndrome with a cerebellar malformation as major feature' 'Joubert syndrome with renal defect' SubClassOf 'Familial cystic renal disease' 'Joubert syndrome with renal defect' SubClassOf 'Joubert syndrome' http://purl.obolibrary.org/obo/CHEBI_27027 micronutrient 'micronutrient' SubClassOf 'inheres_in' some 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_27026 toxin 'toxin' SubClassOf 'inheres_in' some 'chemical entity' http://www.orpha.net/ORDO/Orphanet_220493 Joubert syndrome with ocular defect 'Joubert syndrome with ocular defect' SubClassOf 'Oculomotor apraxia or related oculomotor disease' 'Joubert syndrome with ocular defect' SubClassOf 'Joubert syndrome and related disorders' 'Joubert syndrome with ocular defect' SubClassOf 'Genetic syndrome with a cerebellar malformation as major feature' 'Joubert syndrome with ocular defect' SubClassOf 'Syndromic retinitis pigmentosa' 'Joubert syndrome with ocular defect' SubClassOf 'Syndrome with a symptomatic strabismus' 'Joubert syndrome with ocular defect' SubClassOf 'Oculomotor apraxia or related oculomotor disease' 'Joubert syndrome with ocular defect' SubClassOf 'Joubert syndrome and related disorders' 'Joubert syndrome with ocular defect' SubClassOf 'Syndromic retinitis pigmentosa' 'Joubert syndrome with ocular defect' SubClassOf 'Syndrome with a symptomatic strabismus' http://purl.obolibrary.org/obo/CHEBI_16330 17beta-hydroxy-5alpha-androstan-3-one '17beta-hydroxy-5alpha-androstan-3-one' SubClassOf 'has_role' some 'hormone role' http://www.orpha.net/ORDO/Orphanet_231178 Usher syndrome type 2 'Usher syndrome type 2' SubClassOf 'Usher syndrome' 'Usher syndrome type 2' SubClassOf 'Usher syndrome' http://purl.obolibrary.org/obo/CHEBI_29655 neocarzinostatin chromophore 'neocarzinostatin chromophore' SubClassOf 'has_role' some 'antineoplastic agent' http://purl.obolibrary.org/obo/HP_0008250 Infantile hypercalcemia 'Infantile hypercalcemia' SubClassOf 'Hypercalcemia' 'Infantile hypercalcemia' SubClassOf 'Hypercalcemia' http://purl.obolibrary.org/obo/CHEBI_17650 cortisol 'cortisol' SubClassOf 'has_role' some 'hormone role' http://www.orpha.net/ORDO/Orphanet_90026 Primary erythermalgia 'Primary erythermalgia' SubClassOf 'Autosomal dominant hereditary sensory and autonomic neuropathy' 'Primary erythermalgia' SubClassOf 'Erythromelalgia' http://www.orpha.net/ORDO/Orphanet_91357 Duplication of the esophagus 'Duplication of the esophagus' SubClassOf 'Non-syndromic esophageal malformation' 'Duplication of the esophagus' SubClassOf 'Non-syndromic esophageal malformation' http://www.orpha.net/ORDO/Orphanet_91358 Congenital esophageal diverticulum 'Congenital esophageal diverticulum' SubClassOf 'Non-syndromic esophageal malformation' 'Congenital esophageal diverticulum' SubClassOf 'Non-syndromic esophageal malformation' http://www.orpha.net/ORDO/Orphanet_90023 Primary immunodeficiency syndrome due to p14 deficiency 'Primary immunodeficiency syndrome due to p14 deficiency' SubClassOf 'Constitutional neutropenia with extra-haematopoietic manifestations' 'Primary immunodeficiency syndrome due to p14 deficiency' SubClassOf 'Constitutional neutropenia with extra-haematopoietic manifestations' http://www.orpha.net/ORDO/Orphanet_90025 Syndactyly 'Syndactyly' SubClassOf 'Non-syndromic polydactyly, syndactyly and/or hyperphalangy' 'Syndactyly' SubClassOf 'Non-syndromic polydactyly, syndactyly and/or hyperphalangy' http://purl.obolibrary.org/obo/MONDO_0002254 DisjointWith 'Syndactyly' 'Syndactyly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021002 http://www.orpha.net/ORDO/Orphanet_231169 Usher syndrome type 1 'Usher syndrome type 1' SubClassOf 'Usher syndrome' 'Usher syndrome type 1' SubClassOf 'Usher syndrome' http://www.orpha.net/ORDO/Orphanet_90024 Deafness with labyrinthine aplasia, microtia, and microdontia 'Deafness with labyrinthine aplasia, microtia, and microdontia' SubClassOf 'Syndromic genetic deafness' 'Deafness with labyrinthine aplasia, microtia, and microdontia' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_231160 Familial cerebral saccular aneurysm 'Familial cerebral saccular aneurysm' SubClassOf 'Genetic central nervous system and retinal vascular disease' 'Familial cerebral saccular aneurysm' SubClassOf 'Genetic neurovascular malformation' 'Familial cerebral saccular aneurysm' SubClassOf 'brain aneurysm' 'Familial cerebral saccular aneurysm' SubClassOf 'Genetic central nervous system and retinal vascular disease' http://www.orpha.net/ORDO/Orphanet_90030 Hemolytic anemia due to glutathione reductase deficiency 'Hemolytic anemia due to glutathione reductase deficiency' SubClassOf 'Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies' 'Hemolytic anemia due to glutathione reductase deficiency' SubClassOf 'Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies' http://www.orpha.net/ORDO/Orphanet_90031 Non-spherocytic hemolytic anemia due to hexokinase deficiency 'Non-spherocytic hemolytic anemia due to hexokinase deficiency' SubClassOf 'Hemolytic anemia due to a disorder of glycolytic enzymes' 'Non-spherocytic hemolytic anemia due to hexokinase deficiency' SubClassOf 'Hemolytic anemia due to a disorder of glycolytic enzymes' http://www.orpha.net/ORDO/Orphanet_90039 Hemoglobin D disease 'Hemoglobin D disease' SubClassOf 'Hemoglobinopathy' 'Hemoglobin D disease' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Hemoglobin D disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019050 'Hemoglobin D disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002280 http://purl.obolibrary.org/obo/CHEBI_88005 3-phosphoglycerate(2-) '3-phosphoglycerate(2-)' SubClassOf 'chemical entity' '3-phosphoglycerate(2-)' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CLO_0010523 GM08390 'GM08390' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM08390' SubClassOf 'has_quality' some 'male' 'GM08390' SubClassOf 'cultured cell' http://purl.obolibrary.org/obo/CLO_0010521 GM08388 'GM08388' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM08388' SubClassOf 'has_quality' some 'female' 'GM08388' SubClassOf 'cultured cell' http://purl.obolibrary.org/obo/CHEBI_31941 oxaliplatin 'oxaliplatin' SubClassOf 'has_role' some 'antineoplastic agent' http://www.orpha.net/ORDO/Orphanet_255138 Pyruvate dehydrogenase E1-beta deficiency 'Pyruvate dehydrogenase E1-beta deficiency' SubClassOf 'Pyruvate dehydrogenase deficiency' 'Pyruvate dehydrogenase E1-beta deficiency' SubClassOf 'Pyruvate dehydrogenase deficiency' http://www.orpha.net/ORDO/Orphanet_90045 Hereditary folate malabsorption 'Hereditary folate malabsorption' SubClassOf 'Intestinal disease due to vitamin absorption anomaly' 'Hereditary folate malabsorption' SubClassOf 'Constitutional megaloblastic anemia due to folate metabolism disorder' 'Hereditary folate malabsorption' SubClassOf 'Disorder of folate metabolism and transport' 'Hereditary folate malabsorption' SubClassOf 'Intestinal disease due to vitamin absorption anomaly' 'Hereditary folate malabsorption' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018035 'Hereditary folate malabsorption' SubClassOf 'participates_in' some ('folic acid transport' and ('has component' some 'abnormal')) 'Hereditary folate malabsorption' SubClassOf 'Disorder of folate metabolism and transport' 'Hereditary folate malabsorption' SubClassOf 'Constitutional megaloblastic anemia due to folate metabolism disorder' 'Hereditary folate malabsorption' SubClassOf 'Metabolic disease with intestinal involvement' http://www.orpha.net/ORDO/Orphanet_91378 Hereditary angioedema 'Hereditary angioedema' SubClassOf 'angioedema' 'Hereditary angioedema' EquivalentTo 'angioedema' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) 'Hereditary angioedema' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 http://www.orpha.net/ORDO/Orphanet_90044 Familial pseudohyperkalemia 'Familial pseudohyperkalemia' SubClassOf 'Hereditary stomatocytosis' 'Familial pseudohyperkalemia' SubClassOf 'Hereditary stomatocytosis' http://purl.obolibrary.org/obo/CHEBI_16345 3-sulfino-L-alanine '3-sulfino-L-alanine' SubClassOf 'amino acid' '3-sulfino-L-alanine' SubClassOf 'amino acid' http://purl.obolibrary.org/obo/UBERON_2000692 symplectic 'symplectic' SubClassOf http://purl.obolibrary.org/obo/UBERON_0002513 http://purl.obolibrary.org/obo/CHEBI_30623 oxalate(2-) 'oxalate(2-)' SubClassOf 'chemical entity' 'oxalate(2-)' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_231183 Usher syndrome type 3 'Usher syndrome type 3' SubClassOf 'Usher syndrome' 'Usher syndrome type 3' SubClassOf 'Usher syndrome' http://www.orpha.net/ORDO/Orphanet_255132 Adult-onset autosomal recessive sideroblastic anemia 'Adult-onset autosomal recessive sideroblastic anemia' SubClassOf 'Constitutional sideroblastic anemia' 'Adult-onset autosomal recessive sideroblastic anemia' SubClassOf 'Mitochondrial substrate carrier disorder' 'Adult-onset autosomal recessive sideroblastic anemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000577 'Adult-onset autosomal recessive sideroblastic anemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0008785 'Adult-onset autosomal recessive sideroblastic anemia' SubClassOf 'Mitochondrial substrate carrier disorder' http://purl.obolibrary.org/obo/CLO_0010526 GM08398 'GM08398' SubClassOf 'derives_from' some ('fibroblast' and ('part_of' some ('inguinal region' and ('part_of' some 'Homo sapiens')))) 'GM08398' SubClassOf 'cultured cell' 'GM08398' SubClassOf 'has_quality' some 'male' http://purl.obolibrary.org/obo/CHEBI_28315 alloxanthine 'alloxanthine' SubClassOf 'chemical entity' 'alloxanthine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/HP_0008277 Abnormality of zinc homeostasis 'Abnormality of zinc homeostasis' EquivalentTo 'has part' some ('quality' and ('inheres_in' some 'zinc ion homeostasis') and ('has component' some 'abnormal')) http://purl.obolibrary.org/obo/PO_0000046 seminal root 'seminal root' SubClassOf 'embryo root' 'seminal root' SubClassOf 'embryo root' http://purl.obolibrary.org/obo/PO_0000045 embryo root 'embryo root' SubClassOf 'root' 'embryo root' SubClassOf 'root' http://purl.obolibrary.org/obo/PO_0000043 crown root 'crown root' SubClassOf 'root' 'crown root' SubClassOf 'root' http://purl.obolibrary.org/obo/GO_0005819 spindle 'spindle' SubClassOf 'part_of' some 'microtubule cytoskeleton' http://purl.obolibrary.org/obo/CHEBI_90344 N-methylproline 'N-methylproline' SubClassOf 'chemical entity' 'N-methylproline' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/UBERON_0008930 somatosensory cortex 'somatosensory cortex' SubClassOf 'part_of' some 'postcentral gyrus' http://purl.obolibrary.org/obo/PO_0000056 flower bud 'flower bud' SubClassOf 'bud' 'flower bud' SubClassOf 'bud' http://purl.obolibrary.org/obo/PO_0000055 bud 'bud' SubClassOf 'shoot system' 'bud' SubClassOf 'shoot system' http://www.orpha.net/ORDO/Orphanet_399185 Rare hereditary disease with avascular necrosis 'Rare hereditary disease with avascular necrosis' SubClassOf 'Avascular necrosis of genetic origin' 'Rare hereditary disease with avascular necrosis' SubClassOf 'Avascular necrosis of genetic origin' 'Rare hereditary disease with avascular necrosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018374 http://purl.obolibrary.org/obo/UBERON_0007610 tibial artery 'tibial artery' SubClassOf 'artery' 'tibial artery' SubClassOf http://purl.obolibrary.org/obo/UBERON_0003516 'tibial artery' SubClassOf 'part_of' some 'hindlimb' 'tibial artery' SubClassOf http://purl.obolibrary.org/obo/UBERON_0004573 http://purl.obolibrary.org/obo/CHEBI_89379 gamma-CEHC 'gamma-CEHC' SubClassOf 'chemical entity' 'gamma-CEHC' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_17649 hydroxymalonate(2-) 'hydroxymalonate(2-)' SubClassOf 'chemical entity' 'hydroxymalonate(2-)' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/GO_0005844 polysome 'polysome' SubClassOf 'cellular component' http://purl.obolibrary.org/obo/CHEBI_76078 2-palmitoyl-sn-glycero-3-phosphocholine '2-palmitoyl-sn-glycero-3-phosphocholine' SubClassOf 'phospholipid' '2-palmitoyl-sn-glycero-3-phosphocholine' SubClassOf 'phospholipid' http://purl.obolibrary.org/obo/CHEBI_76071 2-oleoyl-sn-glycero-3-phosphocholine '2-oleoyl-sn-glycero-3-phosphocholine' SubClassOf 'phospholipid' '2-oleoyl-sn-glycero-3-phosphocholine' SubClassOf 'phospholipid' http://purl.obolibrary.org/obo/PO_0000003 whole plant 'whole plant' SubClassOf 'plant structure' 'whole plant' SubClassOf 'plant structure' http://purl.obolibrary.org/obo/HP_0200134 Epileptic encephalopathy 'Epileptic encephalopathy' SubClassOf 'Encephalopathy' 'Epileptic encephalopathy' SubClassOf 'Encephalopathy' http://www.orpha.net/ORDO/Orphanet_220448 Macrothrombocytopenia with mitral valve insufficiency 'Macrothrombocytopenia with mitral valve insufficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018795 http://www.orpha.net/ORDO/Orphanet_220443 Bleeding diathesis due to thromboxane synthesis deficiency 'Bleeding diathesis due to thromboxane synthesis deficiency' SubClassOf 'Rare hemorrhagic disorder due to a constitutional thrombocytopenia' 'Bleeding diathesis due to thromboxane synthesis deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018796 'Bleeding diathesis due to thromboxane synthesis deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020573 http://purl.obolibrary.org/obo/CHEBI_76084 2-linoleoyl-sn-glycero-3-phosphocholine '2-linoleoyl-sn-glycero-3-phosphocholine' SubClassOf 'phospholipid' '2-linoleoyl-sn-glycero-3-phosphocholine' SubClassOf 'phospholipid' http://purl.obolibrary.org/obo/PO_0000017 vascular leaf primordium 'vascular leaf primordium' SubClassOf 'vegetative shoot apex' 'vascular leaf primordium' SubClassOf 'vegetative shoot apex' http://purl.obolibrary.org/obo/PO_0000014 rosette leaf 'rosette leaf' SubClassOf 'rosette' 'rosette leaf' SubClassOf 'rosette' http://purl.obolibrary.org/obo/UBERON_0008904 neuromast 'neuromast' SubClassOf 'develops_from' some 'neurogenic placode' 'neuromast' SubClassOf 'part_of' some 'lateral line system' http://www.orpha.net/ORDO/Orphanet_220436 Quebec platelet disorder 'Quebec platelet disorder' SubClassOf 'Alpha granule disease' 'Quebec platelet disorder' SubClassOf 'Alpha granule disease' http://www.orpha.net/ORDO/Orphanet_31709 Infantile convulsions and choreoathetosis 'Infantile convulsions and choreoathetosis' SubClassOf 'Benign partial infantile seizures' 'Infantile convulsions and choreoathetosis' SubClassOf 'Paroxysmal dyskinesia' 'Infantile convulsions and choreoathetosis' SubClassOf 'Benign partial infantile seizures' 'Infantile convulsions and choreoathetosis' SubClassOf 'Paroxysmal dyskinesia' 'Infantile convulsions and choreoathetosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 http://www.orpha.net/ORDO/Orphanet_231117 Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 'Beckwith-Wiedemann syndrome due to imprinting defect of 11p15' SubClassOf 'Beckwith-Wiedemann syndrome' 'Beckwith-Wiedemann syndrome due to imprinting defect of 11p15' SubClassOf 'Beckwith-Wiedemann syndrome' http://purl.obolibrary.org/obo/PO_0000026 primary root tip 'primary root tip' SubClassOf 'root tip' 'primary root tip' SubClassOf 'root tip' http://purl.obolibrary.org/obo/PO_0000025 root tip 'root tip' SubClassOf 'part_of' some 'root structure' http://www.orpha.net/ORDO/Orphanet_220465 Laron syndrome with immunodeficiency 'Laron syndrome with immunodeficiency' SubClassOf 'Growth hormone insensitivity syndrome' 'Laron syndrome with immunodeficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018035 'Laron syndrome with immunodeficiency' SubClassOf 'Growth hormone insensitivity syndrome' http://purl.obolibrary.org/obo/GO_0005886 plasma membrane 'plasma membrane' SubClassOf 'part_of' some 'cell periphery' http://www.orpha.net/ORDO/Orphanet_220460 Attenuated familial adenomatous polyposis 'Attenuated familial adenomatous polyposis' SubClassOf 'Inherited cancer-predisposing syndrome' 'Attenuated familial adenomatous polyposis' SubClassOf 'Genetic intestinal polyposis' 'Attenuated familial adenomatous polyposis' SubClassOf 'Genetic digestive tract tumor' 'Attenuated familial adenomatous polyposis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021057 http://www.orpha.net/ORDO/Orphanet_231108 Familial rhabdoid tumor 'Familial rhabdoid tumor' SubClassOf 'Genetic soft tissue tumor' 'Familial rhabdoid tumor' SubClassOf 'malignant rhabdoid tumour' 'Familial rhabdoid tumor' EquivalentTo 'Inherited cancer-predisposing syndrome' and ('disease has feature' some 'malignant rhabdoid tumour') 'Familial rhabdoid tumor' SubClassOf 'disease has feature' some 'malignant rhabdoid tumour' 'Familial rhabdoid tumor' SubClassOf 'Genetic soft tissue tumor' 'Familial rhabdoid tumor' SubClassOf 'Inherited cancer-predisposing syndrome' http://purl.obolibrary.org/obo/PO_0000034 vascular system 'vascular system' SubClassOf 'plant anatomical entity' 'vascular system' SubClassOf 'plant anatomical entity' http://purl.obolibrary.org/obo/PO_0000037 shoot apex 'shoot apex' SubClassOf 'shoot axis' 'shoot apex' SubClassOf 'shoot axis' http://www.orpha.net/ORDO/Orphanet_220452 Inherited giant platelet disorder 'Inherited giant platelet disorder' SubClassOf 'Rare hemorrhagic disorder due to a constitutional thrombocytopenia' 'Inherited giant platelet disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018796 http://www.orpha.net/ORDO/Orphanet_401979 Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type 'Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type' SubClassOf 'Spondylodysplastic dysplasia' 'Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type' SubClassOf 'Spondylodysplastic dysplasia' http://www.orpha.net/ORDO/Orphanet_401973 MEND syndrome 'MEND syndrome' SubClassOf 'Sterol biosynthesis disorder' 'MEND syndrome' SubClassOf 'Rare syndromic dyslipidemia' 'MEND syndrome' SubClassOf 'Sterol biosynthesis disorder' 'MEND syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'MEND syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 http://purl.obolibrary.org/obo/UBERON_0005020 mucosa of tongue 'mucosa of tongue' SubClassOf 'part_of' some 'tongue' 'mucosa of tongue' SubClassOf 'part_of' some 'mouth' 'mucosa of tongue' SubClassOf 'mouth mucosa' http://purl.obolibrary.org/obo/UBERON_0007683 lateral mesenchyme derived from mesoderm 'lateral mesenchyme derived from mesoderm' SubClassOf 'trunk mesenchyme' 'lateral mesenchyme derived from mesoderm' SubClassOf 'trunk mesenchyme' http://purl.obolibrary.org/obo/CL_0002231 epithelial cell of prostate 'epithelial cell of prostate' SubClassOf 'located_in' some 'prostate gland' http://www.orpha.net/ORDO/Orphanet_401959 Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome 'Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome' SubClassOf 'Genetic syndrome with a cerebellar malformation as major feature' 'Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome' SubClassOf 'Cerebral malformation with epilepsy' 'Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome' SubClassOf 'Genetic syndrome with a cerebellar malformation as major feature' 'Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome' SubClassOf 'Cerebral malformation with epilepsy' http://www.orpha.net/ORDO/Orphanet_401953 Episodic ataxia with slurred speech 'Episodic ataxia with slurred speech' SubClassOf 'Hereditary episodic ataxia' 'Episodic ataxia with slurred speech' SubClassOf 'Hereditary episodic ataxia' http://www.ebi.ac.uk/efo/EFO_0006811 linolenic acid measurement 'linolenic acid measurement' SubClassOf 'is_about' some 'linolenic acid' http://www.ebi.ac.uk/efo/EFO_0006810 oleic acid measurement 'oleic acid measurement' SubClassOf 'is_about' some 'oleic acid' http://www.ebi.ac.uk/efo/EFO_0006813 atrophic thyroiditis 'atrophic thyroiditis' SubClassOf 'autoimmune thyroid disease' 'atrophic thyroiditis' SubClassOf 'autoimmune thyroid disease' http://www.ebi.ac.uk/efo/EFO_0006812 autoimmune thyroid disease 'autoimmune thyroid disease' SubClassOf 'thyroid disease' 'autoimmune thyroid disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000569 'autoimmune thyroid disease' SubClassOf ('part_of' some 'thyroid gland') or ('has_disease_location' some 'thyroid gland') 'autoimmune thyroid disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004126 http://purl.obolibrary.org/obo/CL_0002253 epithelial cell of large intestine 'epithelial cell of large intestine' SubClassOf 'part_of' some 'large intestine' 'epithelial cell of large intestine' EquivalentTo 'intestinal epithelial cell' and ('part_of' some 'large intestine') http://www.orpha.net/ORDO/Orphanet_401945 Moyamoya disease with early-onset achalasia 'Moyamoya disease with early-onset achalasia' SubClassOf 'Genetic gastro-esophageal disease' 'Moyamoya disease with early-onset achalasia' SubClassOf 'Genetic central nervous system and retinal vascular disease' 'Moyamoya disease with early-onset achalasia' SubClassOf 'Moyamoya disease' 'Moyamoya disease with early-onset achalasia' SubClassOf 'Genetic gastro-esophageal disease' 'Moyamoya disease with early-onset achalasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018792 http://www.orpha.net/ORDO/Orphanet_401948 Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency 'Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency' SubClassOf 'Disorder of urea cycle metabolism and ammonia detoxification' 'Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency' SubClassOf 'Gluconeogenesis disorder' 'Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency' SubClassOf 'Disorder of urea cycle metabolism and ammonia detoxification' 'Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency' SubClassOf 'Gluconeogenesis disorder' http://www.orpha.net/ORDO/Orphanet_401942 Familial median cleft of the upper and lower lips 'Familial median cleft of the upper and lower lips' SubClassOf 'Genetic head and neck malformation' 'Familial median cleft of the upper and lower lips' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015412 'Familial median cleft of the upper and lower lips' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000358 'Familial median cleft of the upper and lower lips' SubClassOf 'Genetic head and neck malformation' http://www.ebi.ac.uk/efo/EFO_0006800 vascular brain injury measurement 'vascular brain injury measurement' SubClassOf 'is_about' some 'vascular brain injury' http://www.orpha.net/ORDO/Orphanet_109011 Non-syndromic limb malformation 'Non-syndromic limb malformation' SubClassOf 'Genetic congenital limb malformation' 'Non-syndromic limb malformation' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Non-syndromic limb malformation' SubClassOf 'Genetic congenital limb malformation' 'Non-syndromic limb malformation' DisjointWith 'Genetic syndrome with limb malformations as a major feature' http://www.ebi.ac.uk/efo/EFO_0006803 vasculitis 'vasculitis' SubClassOf 'vascular disease' 'vasculitis' SubClassOf 'vascular disease' 'vasculitis' SubClassOf 'has phenotype' some 'inflammation' 'vasculitis' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'vasculitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021166 'vasculitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020012 http://www.ebi.ac.uk/efo/EFO_0006801 Alzheimer's disease neuropathologic change 'Alzheimer's disease neuropathologic change' SubClassOf 'has_disease_location' some 'brain' http://www.ebi.ac.uk/efo/EFO_0006808 arachidonic acid measurement 'arachidonic acid measurement' SubClassOf 'is_about' some 'arachidonic acid' http://www.ebi.ac.uk/efo/EFO_0006807 linoleic acid measurement 'linoleic acid measurement' SubClassOf 'is_about' some 'linoleic acid' http://www.ebi.ac.uk/efo/EFO_0006806 paragraph delayed recall measurement 'paragraph delayed recall measurement' SubClassOf 'is_about' some 'memory performance' http://www.ebi.ac.uk/efo/EFO_0006805 word list delayed recall measurement 'word list delayed recall measurement' SubClassOf 'is_about' some 'memory performance' http://www.ebi.ac.uk/efo/EFO_0006809 docosapentaenoic acid measurement 'docosapentaenoic acid measurement' SubClassOf 'is_about' some 'docosapentaenoic acid' http://www.orpha.net/ORDO/Orphanet_293381 Epithelial recurrent erosion dystrophy 'Epithelial recurrent erosion dystrophy' SubClassOf 'Superficial corneal dystrophy' 'Epithelial recurrent erosion dystrophy' SubClassOf 'Superficial corneal dystrophy' http://purl.obolibrary.org/obo/CHEBI_64090 tert-butyl hydroperoxide 'tert-butyl hydroperoxide' SubClassOf 'has_role' some 'antibacterial drug' http://www.ebi.ac.uk/efo/EFO_0005501 proliferating embryo Ce 'proliferating embryo Ce' SubClassOf 'part_of' some 'embryo Ce' http://www.ebi.ac.uk/efo/EFO_0006833 glucose effectiveness measurement 'glucose effectiveness measurement' SubClassOf 'is_about' some 'glucose' 'glucose effectiveness measurement' SubClassOf 'is_about' some 'type II diabetes mellitus' http://www.ebi.ac.uk/efo/EFO_0006832 disposition index measurement 'disposition index measurement' SubClassOf 'is_about' some 'insulin' 'disposition index measurement' SubClassOf 'is_about' some 'type II diabetes mellitus' http://www.orpha.net/ORDO/Orphanet_363294 Genetic syndromic Pierre Robin syndrome 'Genetic syndromic Pierre Robin syndrome' SubClassOf 'Syndrome or malformation associated with head and neck malformations' 'Genetic syndromic Pierre Robin syndrome' SubClassOf 'Syndrome or malformation associated with head and neck malformations' http://www.ebi.ac.uk/efo/EFO_0006831 acute insulin response measurement 'acute insulin response measurement' SubClassOf 'is_about' some 'insulin' 'acute insulin response measurement' SubClassOf 'is_about' some 'type II diabetes mellitus' http://www.ebi.ac.uk/efo/EFO_0005500 4-cell embryo Ce '4-cell embryo Ce' SubClassOf 'part_of' some 'embryo Ce' http://www.ebi.ac.uk/efo/EFO_0006830 insulin metabolic clearance rate measurement 'insulin metabolic clearance rate measurement' SubClassOf 'is_about' some 'insulin' 'insulin metabolic clearance rate measurement' SubClassOf 'is_about' some 'type II diabetes mellitus' http://www.ebi.ac.uk/efo/EFO_0005506 elongating embryo Ce 'elongating embryo Ce' SubClassOf 'part_of' some 'embryo Ce' http://www.ebi.ac.uk/efo/EFO_0005504 fully-elongated embryo Ce 'fully-elongated embryo Ce' SubClassOf 'part_of' some 'embryo Ce' http://www.ebi.ac.uk/efo/EFO_0006834 septic shock 'septic shock' SubClassOf 'has part' some ('quality' and ('has component' some 'abnormal') and ('inheres in part of' some 'infection')) http://www.orpha.net/ORDO/Orphanet_280071 ALG11-CDG 'ALG11-CDG' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'ALG11-CDG' SubClassOf 'Disorder of protein N-glycosylation' 'ALG11-CDG' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' 'ALG11-CDG' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'ALG11-CDG' SubClassOf 'Disorder of protein N-glycosylation' 'ALG11-CDG' SubClassOf 'congenital disorder of glycosylation type I' 'ALG11-CDG' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' http://purl.obolibrary.org/obo/CL_0002275 pancreatic PP cell 'pancreatic PP cell' SubClassOf 'part_of' some 'islet of Langerhans' http://www.ebi.ac.uk/efo/EFO_0006821 trans fatty acid measurement 'trans fatty acid measurement' SubClassOf 'is_about' some 'coronary heart disease' http://www.ebi.ac.uk/efo/EFO_0006829 GFR change measurement 'GFR change measurement' SubClassOf 'is_about' some 'kidney' 'GFR change measurement' SubClassOf 'is_about' some 'kidney disease' http://purl.obolibrary.org/obo/UBERON_0007650 esophagogastric junction 'esophagogastric junction' SubClassOf 'stomach' 'esophagogastric junction' SubClassOf 'stomach' http://www.ebi.ac.uk/efo/EFO_0006827 renin–angiotensin–aldosterone system measurement 'renin–angiotensin–aldosterone system measurement' SubClassOf 'is_about' some 'hypertension' http://www.orpha.net/ORDO/Orphanet_401996 Karyomegalic interstitial nephritis 'Karyomegalic interstitial nephritis' SubClassOf 'nephritis' 'Karyomegalic interstitial nephritis' SubClassOf 'Familial cystic renal disease' 'Karyomegalic interstitial nephritis' SubClassOf 'hereditary nephritis' 'Karyomegalic interstitial nephritis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001085 'Karyomegalic interstitial nephritis' SubClassOf 'Familial cystic renal disease' http://purl.obolibrary.org/obo/CHEBI_64078 (1R,3S)-3-(adamantan-1-yl)-1-(aminomethyl)-3,4-dihydroisochromene-5,6-diol hydrochloride '(1R,3S)-3-(adamantan-1-yl)-1-(aminomethyl)-3,4-dihydroisochromene-5,6-diol hydrochloride' SubClassOf 'has_role' some 'dopamine agonist' http://www.ebi.ac.uk/efo/EFO_0005524 large artery stroke 'large artery stroke' SubClassOf 'stroke' 'large artery stroke' SubClassOf 'stroke' 'large artery stroke' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000473 http://www.orpha.net/ORDO/Orphanet_401993 Cold-induced sweating syndrome-hyperthermia spectrum 'Cold-induced sweating syndrome-hyperthermia spectrum' SubClassOf 'Hereditary sensory and autonomic neuropathy' 'Cold-induced sweating syndrome-hyperthermia spectrum' SubClassOf 'Hereditary sensory and autonomic neuropathy' http://www.ebi.ac.uk/efo/EFO_0005527 ejection fraction measurement 'ejection fraction measurement' SubClassOf 'is_about' some 'cardiovascular disease' 'ejection fraction measurement' SubClassOf 'is_about' some 'cardiovascular system' http://www.ebi.ac.uk/efo/EFO_0006859 head and neck malignant neoplasia 'head and neck malignant neoplasia' SubClassOf 'head and neck neoplasia' 'head and neck malignant neoplasia' SubClassOf 'cancer' 'head and neck malignant neoplasia' SubClassOf 'has_disease_location' some ('head' or ('part_of' some 'head')) 'head and neck malignant neoplasia' SubClassOf 'has_disease_location' some ('neck' or ('part_of' some 'neck')) 'head and neck malignant neoplasia' SubClassOf 'head and neck neoplasia' http://purl.obolibrary.org/obo/CHEBI_64073 exendin-4 'exendin-4' SubClassOf 'has_role' some 'hypoglycemic drug' http://www.ebi.ac.uk/efo/EFO_0006858 epithelial neoplasm 'epithelial neoplasm' SubClassOf 'neoplasm' 'epithelial neoplasm' SubClassOf 'neoplasm' 'epithelial neoplasm' EquivalentTo 'neoplasm' and ('has_disease_location' some 'epithelial cell') http://www.ebi.ac.uk/efo/EFO_0005528 parasitemia measurement 'parasitemia measurement' SubClassOf 'is_about' some 'infectious disease' http://www.ebi.ac.uk/efo/EFO_0006857 cerebral malaria 'cerebral malaria' SubClassOf 'central nervous system disease' 'cerebral malaria' SubClassOf 'malaria' 'cerebral malaria' SubClassOf 'has_disease_location' some ('brain' or ('part_of' some 'brain')) 'cerebral malaria' SubClassOf 'malaria' 'cerebral malaria' SubClassOf 'brain disease' 'cerebral malaria' SubClassOf 'central nervous system infection' http://www.ebi.ac.uk/efo/EFO_0005529 Chagas cardiomyopathy 'Chagas cardiomyopathy' SubClassOf 'cardiomyopathy' 'Chagas cardiomyopathy' EquivalentTo 'cardiomyopathy' and (http://purl.obolibrary.org/obo/RO_0004022 some http://purl.obolibrary.org/obo/MONDO_0001444) 'Chagas cardiomyopathy' SubClassOf http://purl.obolibrary.org/obo/RO_0004022 some http://purl.obolibrary.org/obo/MONDO_0001444 'Chagas cardiomyopathy' SubClassOf 'cardiomyopathy' 'Chagas cardiomyopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021669 http://purl.obolibrary.org/obo/UBERON_0008998 vasculature of brain 'vasculature of brain' SubClassOf 'vasculature' 'vasculature of brain' SubClassOf http://purl.obolibrary.org/obo/UBERON_0006876 'vasculature of brain' SubClassOf http://purl.obolibrary.org/obo/UBERON_0036303 'vasculature of brain' SubClassOf 'part_of' some 'brain' http://purl.obolibrary.org/obo/UBERON_0006334 posterior lateral line 'posterior lateral line' SubClassOf 'part_of' some 'lateral line system' 'posterior lateral line' SubClassOf 'develops_from' some 'neurogenic placode' http://www.orpha.net/ORDO/Orphanet_401986 1p31p32 microdeletion syndrome '1p31p32 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007 http://www.ebi.ac.uk/efo/EFO_0005512 estrogen receptor status 'estrogen receptor status' SubClassOf 'is_about' some 'breast carcinoma' http://www.ebi.ac.uk/efo/EFO_0006843 infectious disease biomarker 'infectious disease biomarker' EquivalentTo 'is_about' some 'infectious disease' http://www.ebi.ac.uk/efo/EFO_0005513 progesterone receptor status 'progesterone receptor status' SubClassOf 'is_about' some 'breast carcinoma' http://purl.obolibrary.org/obo/CLO_0033199 GM13883 'GM13883' SubClassOf 'cultured cell' 'GM13883' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM13883' SubClassOf 'has_quality' some 'female' http://www.ebi.ac.uk/efo/EFO_0006842 diabetes mellitus biomarker 'diabetes mellitus biomarker' EquivalentTo 'measurement' and ('is_about' some 'diabetes mellitus') http://www.ebi.ac.uk/efo/EFO_0006841 respiratory disease biomarker 'respiratory disease biomarker' EquivalentTo 'is_about' some 'respiratory system disease' http://www.ebi.ac.uk/efo/EFO_0006848 mental or behavioural disorder biomarker 'mental or behavioural disorder biomarker' EquivalentTo 'is_about' some 'mental or behavioural disorder' http://www.ebi.ac.uk/efo/EFO_0005517 RIP-Chip by array 'RIP-Chip by array' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0006846 autoimmune disease biomarker 'autoimmune disease biomarker' EquivalentTo 'measurement' and ('is_about' some ('autoimmune disease' and ('has_role' some 'biomarker'))) http://www.ebi.ac.uk/efo/EFO_0005514 HER2 status 'HER2 status' SubClassOf 'is_about' some 'breast carcinoma' http://www.ebi.ac.uk/efo/EFO_0006845 liver disease biomarker 'liver disease biomarker' EquivalentTo 'is_about' some 'liver disease' http://www.ebi.ac.uk/efo/EFO_0005519 dissection protocol 'dissection protocol' SubClassOf 'is_executed_in' some 'dissection' http://purl.obolibrary.org/obo/CHEBI_64053 4-(4-methylpiperazin-1-yl)-7-(trifluoromethyl)pyrrolo[1,2-a]quinoxaline dimaleate '4-(4-methylpiperazin-1-yl)-7-(trifluoromethyl)pyrrolo[1,2-a]quinoxaline dimaleate' SubClassOf 'has_role' some 'serotonergic antagonist' http://www.ebi.ac.uk/efo/EFO_0004210 gallstones 'gallstones' SubClassOf 'gallbladder disease' 'gallstones' SubClassOf 'gallbladder disease' http://www.ebi.ac.uk/efo/EFO_0005541 bone development disease 'bone development disease' SubClassOf 'bone disease' 'bone development disease' SubClassOf 'bone disease' 'bone development disease' SubClassOf ('has_disease_location' some 'bone') or ('has_disease_location' some 'cartilage') http://www.ebi.ac.uk/efo/EFO_0004211 Hypertriglyceridemia 'Hypertriglyceridemia' SubClassOf 'metabolic disease' 'Hypertriglyceridemia' SubClassOf 'realized_in' some ('disease course' and ('has part' some 'metabolic process')) 'Hypertriglyceridemia' SubClassOf 'metabolic disease' 'Hypertriglyceridemia' SubClassOf ('has_participant' some 'triglyceride') and ('participates_in' some ('triglyceride homeostasis' and ('has component' some 'abnormal'))) 'Hypertriglyceridemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024297 http://www.ebi.ac.uk/efo/EFO_0005542 botulism 'botulism' SubClassOf 'bacterial disease' 'botulism' SubClassOf 'commensal Clostridium infectious disease' 'botulism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020010 'botulism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020125 'botulism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000314 http://www.ebi.ac.uk/efo/EFO_0005540 bile duct carcinoma 'bile duct carcinoma' SubClassOf 'biliary tract disease' 'bile duct carcinoma' SubClassOf 'carcinoma' 'bile duct carcinoma' SubClassOf 'liver neoplasm' 'bile duct carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018531 'bile duct carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003059 'bile duct carcinoma' SubClassOf 'has_disease_location' some 'bile duct' http://www.ebi.ac.uk/efo/EFO_0004214 Abdominal Aortic Aneurysm 'Abdominal Aortic Aneurysm' SubClassOf 'aortic aneurysm' 'Abdominal Aortic Aneurysm' SubClassOf 'aortic aneurysm' http://www.ebi.ac.uk/efo/EFO_0005545 congenital disorder of glycosylation type I 'congenital disorder of glycosylation type I' SubClassOf 'Congenital disorder of glycosylation' 'congenital disorder of glycosylation type I' SubClassOf 'realized_in' some ('disease course' and ('has part' some 'glycosylation')) 'congenital disorder of glycosylation type I' SubClassOf 'Congenital disorder of glycosylation' http://www.orpha.net/ORDO/Orphanet_137908 Hypotonia with lactic acidemia and hyperammonemia 'Hypotonia with lactic acidemia and hyperammonemia' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Hypotonia with lactic acidemia and hyperammonemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000732 'Hypotonia with lactic acidemia and hyperammonemia' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' http://www.ebi.ac.uk/efo/EFO_0004215 anorexia nervosa 'anorexia nervosa' SubClassOf 'eating disorder' 'anorexia nervosa' SubClassOf 'eating disorder' http://www.ebi.ac.uk/efo/EFO_0005546 congenital disorder of glycosylation type II 'congenital disorder of glycosylation type II' SubClassOf 'Congenital disorder of glycosylation' 'congenital disorder of glycosylation type II' SubClassOf 'Congenital disorder of glycosylation' 'congenital disorder of glycosylation type II' SubClassOf 'realized_in' some ('disease course' and ('has part' some 'glycosylation')) http://www.ebi.ac.uk/efo/EFO_0006876 seasonality measurement 'seasonality measurement' SubClassOf 'is_about' some 'mental or behavioural disorder' http://www.ebi.ac.uk/efo/EFO_0005543 glioma 'glioma' SubClassOf 'Central Nervous System Neoplasm' 'glioma' SubClassOf 'neoplasm' and ('has_disease_location' some ('brain' or ('part_of' some 'brain'))) 'glioma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021193 http://www.ebi.ac.uk/efo/EFO_0004212 Keloid 'Keloid' SubClassOf 'skin disease' 'Keloid' SubClassOf 'reactive cutaneous fibrous lesion' 'Keloid' SubClassOf 'has_disease_location' some 'zone of skin' http://www.ebi.ac.uk/efo/EFO_0006875 acoustic startle blink response measurement 'acoustic startle blink response measurement' SubClassOf 'is_about' some 'eye' http://www.ebi.ac.uk/efo/EFO_0004213 otosclerosis 'otosclerosis' SubClassOf 'sensory system disease' 'otosclerosis' SubClassOf 'inner ear disease' http://www.orpha.net/ORDO/Orphanet_137905 Syndromic optic nerve hypoplasia 'Syndromic optic nerve hypoplasia' SubClassOf 'Optic neuropathy' 'Syndromic optic nerve hypoplasia' SubClassOf 'Optic neuropathy' http://purl.obolibrary.org/obo/CHEBI_64050 N-desmethylclozapine 'N-desmethylclozapine' SubClassOf 'has_role' some 'serotonergic drug' http://www.ebi.ac.uk/efo/EFO_0004218 obsolete_marijuana dependence 'obsolete_marijuana dependence' SubClassOf 'obsolete class' 'obsolete_marijuana dependence' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0005549 diphtheria 'diphtheria' SubClassOf 'bacterial disease' 'diphtheria' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'diphtheria' SubClassOf 'has_participant' some 'Corynebacterium diphtheriae' 'diphtheria' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000314 http://www.ebi.ac.uk/efo/EFO_0004216 conduct disorder 'conduct disorder' SubClassOf 'mental or behavioural disorder' 'conduct disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000592 http://www.ebi.ac.uk/efo/EFO_0005547 dengue disease 'dengue disease' SubClassOf 'viral disease' 'dengue disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018093 'dengue disease' SubClassOf 'Flaviviridae infectious disease' http://www.ebi.ac.uk/efo/EFO_0004217 obsolete_Biliary atresia 'obsolete_Biliary atresia' SubClassOf 'obsolete class' 'obsolete_Biliary atresia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0005548 developmental disorder of mental health 'developmental disorder of mental health' SubClassOf 'mental or behavioural disorder' 'developmental disorder of mental health' SubClassOf 'mental or behavioural disorder' http://www.orpha.net/ORDO/Orphanet_137911 Autism - facial port-wine stain 'Autism - facial port-wine stain' SubClassOf 'Rare disease with autism' 'Autism - facial port-wine stain' SubClassOf 'Rare disease with autism' 'Autism - facial port-wine stain' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 http://www.orpha.net/ORDO/Orphanet_268384 Thoracolumbosacral spina bifida aperta 'Thoracolumbosacral spina bifida aperta' SubClassOf 'Spina bifida aperta' 'Thoracolumbosacral spina bifida aperta' SubClassOf 'Spina bifida aperta' http://purl.obolibrary.org/obo/CLO_0023783 GM10845 'GM10845' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM10845' SubClassOf 'cultured cell' 'GM10845' SubClassOf 'has_quality' some 'male' http://www.orpha.net/ORDO/Orphanet_268388 Lumbosacral spina bifida aperta 'Lumbosacral spina bifida aperta' SubClassOf 'Spina bifida aperta' 'Lumbosacral spina bifida aperta' SubClassOf 'Spina bifida aperta' http://purl.obolibrary.org/obo/CLO_0023785 GM10843 'GM10843' SubClassOf 'cultured cell' 'GM10843' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM10843' SubClassOf 'has_quality' some 'female' http://purl.obolibrary.org/obo/CLO_0023784 GM10842 'GM10842' SubClassOf 'cultured cell' 'GM10842' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM10842' SubClassOf 'has_quality' some 'male' http://www.orpha.net/ORDO/Orphanet_90103 Charcot-Marie-Tooth disease - deafness - intellectual disability 'Charcot-Marie-Tooth disease - deafness - intellectual disability' SubClassOf 'Syndromic genetic deafness' 'Charcot-Marie-Tooth disease - deafness - intellectual disability' SubClassOf 'Autosomal recessive hereditary demyelinating motor and sensory neuropathy' 'Charcot-Marie-Tooth disease - deafness - intellectual disability' SubClassOf 'Charcot-Marie-Tooth disease' 'Charcot-Marie-Tooth disease - deafness - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Charcot-Marie-Tooth disease - deafness - intellectual disability' SubClassOf 'Syndromic genetic deafness' 'Charcot-Marie-Tooth disease - deafness - intellectual disability' SubClassOf 'Autosomal recessive hereditary demyelinating motor and sensory neuropathy' http://purl.obolibrary.org/obo/CHEBI_64041 N-octylhomovanillamide 'N-octylhomovanillamide' SubClassOf 'has_role' some 'drug role' http://purl.obolibrary.org/obo/CHEBI_64042 3-aminobenzamide '3-aminobenzamide' SubClassOf 'has_role' some 'enzyme inhibitor' http://www.ebi.ac.uk/efo/EFO_0005530 Trypanosoma cruzi seropositivity 'Trypanosoma cruzi seropositivity' SubClassOf 'is_about' some 'trypanosomiasis' http://www.ebi.ac.uk/efo/EFO_0006862 Meniere disease 'Meniere disease' SubClassOf 'head and neck disorder' 'Meniere disease' SubClassOf 'auditory system disease' 'Meniere disease' SubClassOf 'has_disease_location' some ('internal ear' or ('part_of' some 'internal ear')) 'Meniere disease' SubClassOf 'head and neck disorder' 'Meniere disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 'Meniere disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0037940 'Meniere disease' SubClassOf 'endolymphatic hydrops' http://www.ebi.ac.uk/efo/EFO_0005531 urticaria 'urticaria' SubClassOf 'skin disease' 'urticaria' SubClassOf 'has_disease_location' some 'zone of skin' 'urticaria' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002406 http://www.ebi.ac.uk/efo/EFO_0006861 male breast carcinoma 'male breast carcinoma' SubClassOf 'breast carcinoma' 'male breast carcinoma' SubClassOf 'breast carcinoma' 'male breast carcinoma' SubClassOf 'has_disease_location' some ('breast' or ('part_of' some 'breast')) http://purl.obolibrary.org/obo/CHEBI_64045 amisulpride 'amisulpride' SubClassOf 'has_role' some 'antipsychotic drug' http://www.ebi.ac.uk/efo/EFO_0006860 obsolete_major depressive disorder 'obsolete_major depressive disorder' SubClassOf 'obsolete class' 'obsolete_major depressive disorder' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_101960 Genetic chronic primary adrenal insufficiency 'Genetic chronic primary adrenal insufficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015128 http://www.ebi.ac.uk/efo/EFO_0005534 delayed encephalopathy after acute carbon monoxide poisoning 'delayed encephalopathy after acute carbon monoxide poisoning' SubClassOf 'central nervous system disease' 'delayed encephalopathy after acute carbon monoxide poisoning' SubClassOf 'has_disease_location' some 'brain' 'delayed encephalopathy after acute carbon monoxide poisoning' SubClassOf 'brain disease' 'delayed encephalopathy after acute carbon monoxide poisoning' SubClassOf http://purl.obolibrary.org/obo/MONDO_0029001 http://www.ebi.ac.uk/efo/EFO_0005532 angioedema 'angioedema' SubClassOf 'skin disease' 'angioedema' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019293 'angioedema' SubClassOf 'urticaria' 'angioedema' SubClassOf 'has_disease_location' some 'zone of skin' http://www.ebi.ac.uk/efo/EFO_0006863 obsolete_longissimus dorsi 'obsolete_longissimus dorsi' SubClassOf 'obsolete class' 'obsolete_longissimus dorsi' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0005538 thrombin generation potential measurement 'thrombin generation potential measurement' SubClassOf 'is_about' some 'abnormality of blood and blood-forming tissues' http://www.orpha.net/ORDO/Orphanet_293355 Methylmalonic acidemia without homocystinuria 'Methylmalonic acidemia without homocystinuria' SubClassOf 'Classic organic aciduria' 'Methylmalonic acidemia without homocystinuria' SubClassOf 'Classic organic aciduria' http://purl.obolibrary.org/obo/MONDO_0004737 DisjointWith 'Methylmalonic acidemia without homocystinuria' 'Methylmalonic acidemia without homocystinuria' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002012 http://www.ebi.ac.uk/efo/EFO_0004208 Vitiligo 'Vitiligo' SubClassOf 'skin disease' 'Vitiligo' SubClassOf 'has_disease_location' some 'zone of skin' 'Vitiligo' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002406 'Vitiligo' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017841 http://www.ebi.ac.uk/efo/EFO_0005539 adrenal gland disease 'adrenal gland disease' SubClassOf 'endocrine system disease' 'adrenal gland disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044965 'adrenal gland disease' SubClassOf ('part_of' some 'adrenal gland') or ('has_disease_location' some 'adrenal gland') 'adrenal gland disease' SubClassOf 'endocrine system disease' http://www.ebi.ac.uk/efo/EFO_0005536 nitric oxide exhalation measurement 'nitric oxide exhalation measurement' SubClassOf ('is_about' some 'asthma') or ('is_about' some 'atopy') http://www.ebi.ac.uk/efo/EFO_0005537 triple-negative breast cancer 'triple-negative breast cancer' SubClassOf 'breast carcinoma' 'triple-negative breast cancer' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000618 'triple-negative breast cancer' SubClassOf http://www.ebi.ac.uk/efo/EFO_0009781 'triple-negative breast cancer' SubClassOf 'estrogen-receptor negative breast cancer' http://www.ebi.ac.uk/efo/EFO_0004209 hypospadias 'hypospadias' SubClassOf 'reproductive system disease' 'hypospadias' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015933 http://www.orpha.net/ORDO/Orphanet_352530 Intellectual disability - obesity - brain malformations - facial dysmorphism 'Intellectual disability - obesity - brain malformations - facial dysmorphism' SubClassOf 'Syndromic obesity' 'Intellectual disability - obesity - brain malformations - facial dysmorphism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Intellectual disability - obesity - brain malformations - facial dysmorphism' SubClassOf 'Syndromic obesity' 'Intellectual disability - obesity - brain malformations - facial dysmorphism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 http://www.orpha.net/ORDO/Orphanet_268377 Total spina bifida aperta 'Total spina bifida aperta' SubClassOf 'Spina bifida aperta' 'Total spina bifida aperta' SubClassOf 'Spina bifida aperta' http://www.ebi.ac.uk/efo/EFO_000910 number of children ever born measurement 'number of children ever born measurement' SubClassOf 'reproductive behaviour measurement' 'number of children ever born measurement' SubClassOf 'is_about' some 'female reproductive system' 'number of children ever born measurement' SubClassOf 'reproductive behaviour measurement' http://www.orpha.net/ORDO/Orphanet_101957 Pituitary deficiency 'Pituitary deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015889 http://www.ebi.ac.uk/efo/EFO_0006891 breast adenosis 'breast adenosis' SubClassOf 'breast disease' 'breast adenosis' SubClassOf 'breast disease' 'neoplasm' DisjointWith 'breast adenosis' http://www.orpha.net/ORDO/Orphanet_90114 Autosomal dominant intermediate Charcot-Marie-Tooth disease 'Autosomal dominant intermediate Charcot-Marie-Tooth disease' SubClassOf 'Hereditary motor and sensory neuropathy' 'Autosomal dominant intermediate Charcot-Marie-Tooth disease' SubClassOf 'Charcot-Marie-Tooth disease' 'Autosomal dominant intermediate Charcot-Marie-Tooth disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 'Autosomal dominant intermediate Charcot-Marie-Tooth disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018778 http://www.orpha.net/ORDO/Orphanet_101934 Genetic cardiac rhythm disease 'Genetic cardiac rhythm disease' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0007263 and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) 'Genetic cardiac rhythm disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0007263 'Genetic cardiac rhythm disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003847 'Genetic cardiac rhythm disease' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://www.orpha.net/ORDO/Orphanet_364526 Primary bone dysplasia 'Primary bone dysplasia' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Primary bone dysplasia' SubClassOf 'bone development disease' http://www.orpha.net/ORDO/Orphanet_90117 Hereditary motor and sensory neuropathy, Okinawa type 'Hereditary motor and sensory neuropathy, Okinawa type' SubClassOf 'Charcot-Marie-Tooth disease' 'Hereditary motor and sensory neuropathy, Okinawa type' SubClassOf 'Autosomal dominant hereditary axonal motor and sensory neuropathy' 'Hereditary motor and sensory neuropathy, Okinawa type' SubClassOf 'Autosomal dominant hereditary axonal motor and sensory neuropathy' 'Hereditary motor and sensory neuropathy, Okinawa type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002316 http://www.ebi.ac.uk/efo/EFO_0004232 eosinophilic esophagitis 'eosinophilic esophagitis' SubClassOf 'digestive system disease' 'eosinophilic esophagitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018438 'eosinophilic esophagitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001409 http://www.ebi.ac.uk/efo/EFO_0005563 obsolete_hypercalcemia 'obsolete_hypercalcemia' SubClassOf 'obsolete class' 'obsolete_hypercalcemia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004233 leukopenia 'leukopenia' SubClassOf 'inheres in part of' some 'immune system' http://www.ebi.ac.uk/efo/EFO_0004230 endometrial neoplasm 'endometrial neoplasm' EquivalentTo 'neoplasm' and ('has_disease_location' some 'endometrium') http://www.ebi.ac.uk/efo/EFO_0005561 histiocytoma 'histiocytoma' SubClassOf 'neoplasm' http://www.ebi.ac.uk/efo/EFO_0004231 obsolete_brachial artery 'obsolete_brachial artery' SubClassOf 'obsolete class' 'obsolete_brachial artery' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0005562 hydronephrosis 'hydronephrosis' SubClassOf 'kidney disease' 'hydronephrosis' SubClassOf 'urinary tract obstruction' 'hydronephrosis' SubClassOf 'kidney disease' 'hydronephrosis' SubClassOf 'urinary tract obstruction' http://www.ebi.ac.uk/efo/EFO_0004236 focal segmental glomerulosclerosis 'focal segmental glomerulosclerosis' SubClassOf 'kidney disease' 'focal segmental glomerulosclerosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000490 http://www.ebi.ac.uk/efo/EFO_0005567 malignant peritoneal mesothelioma 'malignant peritoneal mesothelioma' SubClassOf 'mesothelioma' 'malignant peritoneal mesothelioma' SubClassOf 'disease of peritoneum' 'malignant peritoneal mesothelioma' SubClassOf 'Malignant Mesothelioma' 'malignant peritoneal mesothelioma' SubClassOf 'has_disease_location' some 'peritoneum' 'malignant peritoneal mesothelioma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002087 'malignant peritoneal mesothelioma' SubClassOf 'Peritoneal Mesothelioma' http://www.ebi.ac.uk/efo/EFO_0006899 PCSK9 protein measurement 'PCSK9 protein measurement' SubClassOf 'is_about' some 'protein' http://www.ebi.ac.uk/efo/EFO_0004237 Graves disease 'Graves disease' SubClassOf 'autoimmune thyroid disease' 'Graves disease' SubClassOf 'type II hypersensitivity reaction disease' 'Graves disease' SubClassOf 'realized_in' some ('disease course' and ('has part' some 'type II hypersensitivity')) 'Graves disease' SubClassOf 'autoimmune thyroid disease' 'Graves disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001104 'Graves disease' SubClassOf 'goiter' http://www.ebi.ac.uk/efo/EFO_0006898 airway wall thickness measurement 'airway wall thickness measurement' SubClassOf 'is_about' some 'respiratory system' http://www.ebi.ac.uk/efo/EFO_0004234 erectile dysfunction 'erectile dysfunction' SubClassOf 'male reproductive system disease' 'erectile dysfunction' SubClassOf 'has_disease_location' some 'penis' 'erectile dysfunction' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002036 'erectile dysfunction' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002134 http://www.ebi.ac.uk/efo/EFO_0005565 janus kinase-3 deficiency 'janus kinase-3 deficiency' SubClassOf 'immune system disease' 'janus kinase-3 deficiency' SubClassOf 'Severe combined immunodeficiency' http://www.ebi.ac.uk/efo/EFO_0006897 airway responsiveness measurement 'airway responsiveness measurement' SubClassOf 'is_about' some 'respiratory system' http://www.ebi.ac.uk/efo/EFO_0004235 exfoliation syndrome 'exfoliation syndrome' SubClassOf 'eye disease' 'exfoliation syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002289 'exfoliation syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'exfoliation syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001554 'exfoliation syndrome' SubClassOf 'Hereditary glaucoma' 'exfoliation syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 http://www.ebi.ac.uk/efo/EFO_0006896 glucose homeostasis measurement 'glucose homeostasis measurement' SubClassOf 'is_about' some 'glucose homeostasis' http://www.orpha.net/ORDO/Orphanet_90119 Axonal Charcot-Marie-Tooth disease with acrodystrophy 'Axonal Charcot-Marie-Tooth disease with acrodystrophy' SubClassOf 'Charcot-Marie-Tooth disease' 'Axonal Charcot-Marie-Tooth disease with acrodystrophy' SubClassOf 'Hereditary motor and sensory neuropathy' 'Axonal Charcot-Marie-Tooth disease with acrodystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019601 http://www.orpha.net/ORDO/Orphanet_90118 Severe early-onset axonal neuropathy due to MFN2 deficiency 'Severe early-onset axonal neuropathy due to MFN2 deficiency' SubClassOf 'Charcot-Marie-Tooth disease' 'Severe early-onset axonal neuropathy due to MFN2 deficiency' SubClassOf 'Hereditary motor and sensory neuropathy' 'Severe early-onset axonal neuropathy due to MFN2 deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019601 http://www.ebi.ac.uk/efo/EFO_0004238 hearing loss 'hearing loss' SubClassOf 'auditory system disease' 'hearing loss' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021945 http://www.ebi.ac.uk/efo/EFO_0005569 microphthalmia 'microphthalmia' SubClassOf 'eye disease' 'microphthalmia' SubClassOf 'eye disease' http://www.ebi.ac.uk/efo/EFO_0004239 chronic hepatitis B infection 'chronic hepatitis B infection' SubClassOf 'hepatitis B infection' 'chronic hepatitis B infection' SubClassOf 'has modifier' some 'chronic' 'chronic hepatitis B infection' SubClassOf 'hepatitis B infection' http://www.orpha.net/ORDO/Orphanet_268369 Spina bifida aperta 'Spina bifida aperta' SubClassOf 'Isolated spina bifida' 'Spina bifida aperta' SubClassOf 'Isolated spina bifida' 'Spina bifida aperta' SubClassOf 'spina bifida' http://www.orpha.net/ORDO/Orphanet_268363 Open iniencephaly 'Open iniencephaly' SubClassOf 'Iniencephaly' 'Open iniencephaly' SubClassOf 'Iniencephaly' http://www.orpha.net/ORDO/Orphanet_90120 Hereditary motor and sensory neuropathy type 6 'Hereditary motor and sensory neuropathy type 6' SubClassOf 'Autosomal dominant hereditary axonal motor and sensory neuropathy' 'Hereditary motor and sensory neuropathy type 6' SubClassOf 'Charcot-Marie-Tooth disease' 'Hereditary motor and sensory neuropathy type 6' SubClassOf 'Autosomal dominant hereditary axonal motor and sensory neuropathy' http://www.orpha.net/ORDO/Orphanet_268366 Closed iniencephaly 'Closed iniencephaly' SubClassOf 'Iniencephaly' 'Closed iniencephaly' SubClassOf 'Iniencephaly' http://purl.obolibrary.org/obo/BTO_0000164 Burkitt lymphoma cell 'Burkitt lymphoma cell' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'organism')))) 'Burkitt lymphoma cell' SubClassOf 'bearer_of' some 'Burkitts lymphoma' 'Burkitt lymphoma cell' EquivalentTo 'cultured cell' and ('bearer_of' some 'Burkitts lymphoma') http://purl.obolibrary.org/obo/CHEBI_64022 nebivolol 'nebivolol' SubClassOf ('has_role' some 'drug') and ('has_role' some 'vasodilator agent') http://www.orpha.net/ORDO/Orphanet_363203 Ring chromosome 'Ring chromosome' SubClassOf 'Autosomal monosomy' 'Ring chromosome' SubClassOf 'Autosomal monosomy' http://www.orpha.net/ORDO/Orphanet_364536 Primary bone dysplasia with micromelia 'Primary bone dysplasia with micromelia' SubClassOf 'Primary bone dysplasia' 'Primary bone dysplasia with micromelia' SubClassOf 'Primary bone dysplasia' http://www.ebi.ac.uk/efo/EFO_0004221 obsolete_External ear 'obsolete_External ear' SubClassOf 'obsolete class' 'obsolete_External ear' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0006884 mouth mucous membrane leukoplakia 'mouth mucous membrane leukoplakia' SubClassOf 'inheres in part of' some 'mouth mucosa' http://www.orpha.net/ORDO/Orphanet_364531 Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments 'Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments' SubClassOf 'Primary bone dysplasia' 'Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments' SubClassOf 'Primary bone dysplasia' http://www.ebi.ac.uk/efo/EFO_0004222 obsolete_astigmatism 'obsolete_astigmatism' SubClassOf 'obsolete class' 'obsolete_astigmatism' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0005553 eccrine sweat gland cancer 'eccrine sweat gland cancer' SubClassOf 'skin neoplasm' 'eccrine sweat gland cancer' SubClassOf 'cancer' 'eccrine sweat gland cancer' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002090 'eccrine sweat gland cancer' SubClassOf 'has_disease_location' some 'gland' 'eccrine sweat gland cancer' EquivalentTo 'cancer' and ('has_disease_location' some ('eccrine sweat gland' or ('part_of' some 'eccrine sweat gland'))) 'eccrine sweat gland cancer' SubClassOf 'has_disease_location' some 'zone of skin' 'eccrine sweat gland cancer' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002206 http://www.ebi.ac.uk/efo/EFO_0006882 suicide behaviour measurement 'suicide behaviour measurement' SubClassOf 'is_about' some 'mental or behavioural disorder' http://www.ebi.ac.uk/efo/EFO_0004220 Chronic Hepatitis C infection 'Chronic Hepatitis C infection' SubClassOf 'hepatitis C infection' 'Chronic Hepatitis C infection' SubClassOf 'has modifier' some 'chronic' 'Chronic Hepatitis C infection' SubClassOf 'hepatitis C infection' http://www.ebi.ac.uk/efo/EFO_0005551 dysembryoplastic neuroepithelial tumor 'dysembryoplastic neuroepithelial tumor' SubClassOf 'has_disease_location' some 'brain' 'dysembryoplastic neuroepithelial tumor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016729 'dysembryoplastic neuroepithelial tumor' SubClassOf 'disease has feature' some http://purl.obolibrary.org/obo/MONDO_0100035 http://www.ebi.ac.uk/efo/EFO_0004225 Coronary Vasospasm 'Coronary Vasospasm' SubClassOf 'coronary heart disease' 'Coronary Vasospasm' SubClassOf 'coronary artery disease' http://www.ebi.ac.uk/efo/EFO_0005556 Gilbert syndrome 'Gilbert syndrome' SubClassOf 'metabolic disease' 'Gilbert syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Gilbert syndrome' SubClassOf 'located_in' some 'bilirubin' 'Gilbert syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002408 'Gilbert syndrome' SubClassOf 'metabolic disease' http://www.ebi.ac.uk/efo/EFO_0006888 vascular malformation 'vascular malformation' SubClassOf 'inheres in part of' some 'artery' http://www.ebi.ac.uk/efo/EFO_0004226 Creutzfeldt Jacob Disease 'Creutzfeldt Jacob Disease' SubClassOf 'prion disease' 'Creutzfeldt Jacob Disease' SubClassOf 'prion disease' http://www.ebi.ac.uk/efo/EFO_0005557 gum cancer 'gum cancer' SubClassOf 'cancer' 'gum cancer' SubClassOf 'head and neck neoplasia' 'gum cancer' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021086 'gum cancer' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002129 'gum cancer' SubClassOf 'oral cavity cancer' 'gum cancer' SubClassOf 'has_disease_location' some 'gingiva' http://purl.obolibrary.org/obo/CHEBI_40070 4-hydroxycoumarin '4-hydroxycoumarin' SubClassOf 'coumarin' '4-hydroxycoumarin' SubClassOf 'coumarin' http://www.ebi.ac.uk/efo/EFO_0004223 obsolete_Keratoconus 'obsolete_Keratoconus' SubClassOf 'obsolete class' 'obsolete_Keratoconus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0006886 pancreaticobiliary malunion 'pancreaticobiliary malunion' SubClassOf 'inheres in part of' some ('pancreas' or 'biliary system') http://www.ebi.ac.uk/efo/EFO_0004224 Coronary Restenosis 'Coronary Restenosis' SubClassOf 'coronary heart disease' 'Coronary Restenosis' SubClassOf 'coronary stenosis' http://www.ebi.ac.uk/efo/EFO_0005555 gamma chain deficiency 'gamma chain deficiency' SubClassOf 'immune system disease' 'gamma chain deficiency' SubClassOf 'T-B+ severe combined immunodeficiency' http://www.ebi.ac.uk/efo/EFO_0006885 leukoplakia of tongue 'leukoplakia of tongue' SubClassOf 'inheres in part of' some 'tongue' http://www.ebi.ac.uk/efo/EFO_0004227 Dengue Hemorrhagic Fever 'Dengue Hemorrhagic Fever' SubClassOf 'dengue disease' 'Dengue Hemorrhagic Fever' SubClassOf 'dengue disease' http://www.ebi.ac.uk/efo/EFO_0005558 hemolytic anemia 'hemolytic anemia' DisjointWith 'Anemia, Hemolytic, Autoimmune' 'hemolytic anemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004139 'hemolytic anemia' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://www.orpha.net/ORDO/Orphanet_293375 Grayson-Wilbrandt corneal dystrophy 'Grayson-Wilbrandt corneal dystrophy' SubClassOf 'Superficial corneal dystrophy' 'Grayson-Wilbrandt corneal dystrophy' SubClassOf 'Superficial corneal dystrophy' http://www.ebi.ac.uk/efo/EFO_0004228 drug-induced liver injury 'drug-induced liver injury' SubClassOf 'liver disease' 'drug-induced liver injury' SubClassOf 'liver disease' http://www.ebi.ac.uk/efo/EFO_0006889 monoclonal B-cell lymphocytosis 'monoclonal B-cell lymphocytosis' SubClassOf 'inheres in part of' some 'lymphocyte of B lineage' http://www.orpha.net/ORDO/Orphanet_268357 Neural tube closure defect 'Neural tube closure defect' SubClassOf 'Neural tube defect' 'Neural tube closure defect' SubClassOf 'Neural tube defect' http://www.ebi.ac.uk/efo/EFO_0004250 obsolete_Moyamoya disease 'obsolete_Moyamoya disease' SubClassOf 'obsolete class' 'obsolete_Moyamoya disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0005581 red-green color blindness 'red-green color blindness' SubClassOf 'Color-vision disease' 'red-green color blindness' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000014 http://www.ebi.ac.uk/efo/EFO_0005582 renal pelvis carcinoma 'renal pelvis carcinoma' SubClassOf 'renal carcinoma' 'renal pelvis carcinoma' SubClassOf 'renal carcinoma' 'renal pelvis carcinoma' SubClassOf 'has_disease_location' some 'kidney' 'renal pelvis carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044919 http://www.ebi.ac.uk/efo/EFO_0005580 red color blindness 'red color blindness' SubClassOf 'Color-vision disease' 'red color blindness' SubClassOf 'has_disease_location' some 'eye' 'red color blindness' SubClassOf 'red-green color blindness' 'red color blindness' SubClassOf 'eye disease' http://www.ebi.ac.uk/efo/EFO_0004254 membranous glomerulonephritis 'membranous glomerulonephritis' SubClassOf 'nephritis' 'membranous glomerulonephritis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002462 http://www.ebi.ac.uk/efo/EFO_0005585 shigellosis 'shigellosis' SubClassOf 'dysentery' 'shigellosis' SubClassOf 'bacterial disease' 'shigellosis' SubClassOf 'dysentery' 'shigellosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000314 'shigellosis' SubClassOf 'has_disease_location' some 'large intestine' 'shigellosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024634 'shigellosis' SubClassOf ('has_participant' some 'Shigella flexneri') or ('has_participant' some 'Shigella sonnei') 'shigellosis' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://www.ebi.ac.uk/efo/EFO_0004255 nephrotic syndrome 'nephrotic syndrome' SubClassOf 'kidney disease' 'nephrotic syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002331 'nephrotic syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 http://www.ebi.ac.uk/efo/EFO_0004252 nasopharyngeal neoplasm 'nasopharyngeal neoplasm' SubClassOf 'neoplasm' 'nasopharyngeal neoplasm' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020641 'nasopharyngeal neoplasm' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021246 'nasopharyngeal neoplasm' SubClassOf 'head and neck neoplasia' 'nasopharyngeal neoplasm' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004821 http://www.ebi.ac.uk/efo/EFO_0005583 rickets 'rickets' SubClassOf 'bone disease' 'rickets' SubClassOf 'derives_from' some 'vitamin D deficiency' 'rickets' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000833 http://www.ebi.ac.uk/efo/EFO_0004253 nephrolithiasis 'nephrolithiasis' SubClassOf 'kidney disease' 'nephrolithiasis' SubClassOf 'kidney disease' http://www.ebi.ac.uk/efo/EFO_0005584 seborrheic keratosis 'seborrheic keratosis' SubClassOf 'skin disease' 'seborrheic keratosis' SubClassOf 'has_disease_location' some 'zone of skin' 'seborrheic keratosis' SubClassOf 'keratosis' 'seborrheic keratosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 http://www.ebi.ac.uk/efo/EFO_0004258 obsolete_optic nerve 'obsolete_optic nerve' SubClassOf 'obsolete class' 'obsolete_optic nerve' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004259 osteonecrosis 'osteonecrosis' SubClassOf 'bone disease' 'osteonecrosis' SubClassOf 'bone disease' 'osteonecrosis' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://www.orpha.net/ORDO/Orphanet_101992 Immunodeficiency due to a complement cascade protein anomaly 'Immunodeficiency due to a complement cascade protein anomaly' SubClassOf 'Primary immunodeficiency due to a defect in innate immunity' 'Immunodeficiency due to a complement cascade protein anomaly' SubClassOf 'Primary immunodeficiency due to a defect in innate immunity' http://www.ebi.ac.uk/efo/EFO_0004256 neuromyelitis optica 'neuromyelitis optica' SubClassOf 'multiple sclerosis' 'neuromyelitis optica' SubClassOf 'multiple sclerosis' 'neuromyelitis optica' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016428 http://www.ebi.ac.uk/efo/EFO_0004257 neurotic disorder 'neurotic disorder' SubClassOf 'mental or behavioural disorder' 'neurotic disorder' SubClassOf 'anxiety disorder' http://www.ebi.ac.uk/efo/EFO_0005588 small intestine carcinoma 'small intestine carcinoma' SubClassOf 'carcinoma' 'small intestine carcinoma' SubClassOf 'digestive system disease' 'small intestine carcinoma' SubClassOf 'Digestive System Carcinoma' 'small intestine carcinoma' SubClassOf 'has_disease_location' some 'small intestine' 'small intestine carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000956 http://www.orpha.net/ORDO/Orphanet_109007 Arthrogryposis syndrome 'Arthrogryposis syndrome' SubClassOf 'Genetic syndrome with limb malformations as a major feature' 'Arthrogryposis syndrome' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Arthrogryposis syndrome' SubClassOf 'Genetic syndrome with limb malformations as a major feature' http://purl.obolibrary.org/obo/UBERON_2000648 dorsal fin musculature 'dorsal fin musculature' SubClassOf http://purl.obolibrary.org/obo/UBERON_0007271 'dorsal fin musculature' SubClassOf 'part_of' some 'dorsum' 'dorsal fin musculature' SubClassOf 'develops_from' some 'embryonic structure' 'dorsal fin musculature' SubClassOf http://purl.obolibrary.org/obo/UBERON_0004469 'dorsal fin musculature' SubClassOf 'part_of' some 'musculature of body' 'dorsal fin musculature' SubClassOf 'part_of' some 'appendage' http://www.orpha.net/ORDO/Orphanet_352563 Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency 'Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency' SubClassOf 'Mitochondrial disease with hypertrophic cardiomyopathy' 'Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency' SubClassOf 'Mitochondrial disease with hypertrophic cardiomyopathy' 'Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000732 http://purl.obolibrary.org/obo/CHEBI_40036 amitrole 'amitrole' SubClassOf 'has_role' some 'herbicide' http://purl.obolibrary.org/obo/UBERON_0005068 neural rod 'neural rod' SubClassOf 'develops_from' some 'neural keel' 'neural rod' SubClassOf 'part_of' some 'embryo' 'neural rod' SubClassOf http://purl.obolibrary.org/obo/UBERON_0016879 http://www.ebi.ac.uk/efo/EFO_0005570 oral cavity cancer 'oral cavity cancer' SubClassOf 'cancer' 'oral cavity cancer' SubClassOf 'head and neck neoplasia' 'oral cavity cancer' SubClassOf 'has_disease_location' some 'mouth floor' 'oral cavity cancer' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021245 'oral cavity cancer' SubClassOf 'head and neck malignant neoplasia' 'oral cavity cancer' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002516 http://www.ebi.ac.uk/efo/EFO_0004240 heroin dependence 'heroin dependence' SubClassOf 'opioid dependence' 'heroin dependence' SubClassOf 'opioid dependence' http://www.ebi.ac.uk/efo/EFO_0005571 osteochondrodysplasia 'osteochondrodysplasia' SubClassOf 'bone development disease' 'osteochondrodysplasia' SubClassOf 'bone development disease' http://www.ebi.ac.uk/efo/EFO_0004243 carcinoid tumor 'carcinoid tumor' SubClassOf 'neoplasm' 'carcinoid tumor' SubClassOf 'neuroendocrine neoplasm' http://www.ebi.ac.uk/efo/EFO_0004244 interstitial lung disease 'interstitial lung disease' SubClassOf 'lung disease' 'interstitial lung disease' SubClassOf 'has_disease_location' some 'lung' 'interstitial lung disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015118 'interstitial lung disease' SubClassOf 'lung disease' http://www.ebi.ac.uk/efo/EFO_0005575 obsolete_penis carcinoma 'obsolete_penis carcinoma' SubClassOf 'obsolete class' 'obsolete_penis carcinoma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004241 obsolete_Hirschsprung disease 'obsolete_Hirschsprung disease' SubClassOf 'obsolete class' 'obsolete_Hirschsprung disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004242 obsessive-compulsive disorder 'obsessive-compulsive disorder' SubClassOf 'mental or behavioural disorder' 'obsessive-compulsive disorder' SubClassOf 'anxiety disorder' 'obsessive-compulsive disorder' SubClassOf 'Rare genetic neurological disorder' http://www.ebi.ac.uk/efo/EFO_0004247 mood disorder 'mood disorder' SubClassOf 'mental or behavioural disorder' 'mood disorder' SubClassOf 'mental or behavioural disorder' http://www.ebi.ac.uk/efo/EFO_0005578 pituitary cancer 'pituitary cancer' SubClassOf 'brain neoplasm' 'pituitary cancer' SubClassOf 'endocrine neoplasm' 'pituitary cancer' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021069 'pituitary cancer' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003766 'pituitary cancer' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017611 'pituitary cancer' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002132 'pituitary cancer' SubClassOf 'has_disease_location' some 'pituitary gland' http://www.ebi.ac.uk/efo/EFO_0004248 male infertility 'male infertility' SubClassOf 'infertility' 'male infertility' SubClassOf 'infertility' 'male infertility' SubClassOf 'realized_in' some ('disease course' and ('has_quality' some 'abnormal') and ('has_disease_location' some 'sperm')) 'male infertility' SubClassOf 'male reproductive system disease' http://www.ebi.ac.uk/efo/EFO_0005579 pseudohermaphroditism 'pseudohermaphroditism' SubClassOf 'reproductive system disease' 'pseudohermaphroditism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024665 http://www.ebi.ac.uk/efo/EFO_0004245 obsolete_iris 'obsolete_iris' SubClassOf 'obsolete class' 'obsolete_iris' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0005576 pernicious anemia 'pernicious anemia' SubClassOf 'nutritional disorder' 'pernicious anemia' SubClassOf 'nutritional deficiency disease' 'pernicious anemia' SubClassOf 'nutritional disorder' 'pernicious anemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003847 'pernicious anemia' SubClassOf 'has_disease_location' some 'blood' 'pernicious anemia' SubClassOf 'Inborn errors of metabolism' 'pernicious anemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001700 'pernicious anemia' SubClassOf 'participates_in' some ('vitamin transport' and ('has component' some 'abnormal')) http://www.ebi.ac.uk/efo/EFO_0004246 mucocutaneous lymph node syndrome 'mucocutaneous lymph node syndrome' SubClassOf 'immune system disease' 'mucocutaneous lymph node syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002052 'mucocutaneous lymph node syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015489 http://www.ebi.ac.uk/efo/EFO_0005577 pharynx cancer 'pharynx cancer' SubClassOf 'respiratory system neoplasm' 'pharynx cancer' SubClassOf 'digestive system disease' 'pharynx cancer' SubClassOf 'cancer' 'pharynx cancer' SubClassOf 'has_disease_location' some 'chordate pharynx' 'pharynx cancer' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000376 'pharynx cancer' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021246 'pharynx cancer' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002516 'pharynx cancer' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021310 'pharynx cancer' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020592 http://www.ebi.ac.uk/efo/EFO_0004249 meningococcal infection 'meningococcal infection' SubClassOf 'bacterial disease' 'meningococcal infection' SubClassOf 'bacterial disease' 'meningococcal infection' SubClassOf 'has_participant' some 'Neisseria meningitidis' http://www.orpha.net/ORDO/Orphanet_352577 Severe feeding difficulties - failure to thrive - microcephaly due to ASXL3 deficiency 'Severe feeding difficulties - failure to thrive - microcephaly due to ASXL3 deficiency' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Severe feeding difficulties - failure to thrive - microcephaly due to ASXL3 deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Severe feeding difficulties - failure to thrive - microcephaly due to ASXL3 deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Severe feeding difficulties - failure to thrive - microcephaly due to ASXL3 deficiency' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/CHEBI_65329 LY294002 'LY294002' SubClassOf 'has_role' some 'antioxidant' http://www.orpha.net/ORDO/Orphanet_101977 Immunodeficiency predominantly affecting antibody production 'Immunodeficiency predominantly affecting antibody production' SubClassOf 'Primary immunodeficiency due to a defect in adaptive immunity' 'Immunodeficiency predominantly affecting antibody production' SubClassOf 'Primary immunodeficiency due to a defect in adaptive immunity' http://www.ebi.ac.uk/efo/EFO_0004273 scoliosis 'scoliosis' SubClassOf 'skeletal system disease' 'scoliosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000836 http://www.ebi.ac.uk/efo/EFO_0004270 restless legs syndrome 'restless legs syndrome' SubClassOf 'nervous system disease' 'restless legs syndrome' SubClassOf 'nervous system disease' http://www.ebi.ac.uk/efo/EFO_0004276 Stevens-Johnson syndrome 'Stevens-Johnson syndrome' SubClassOf 'severe cutaneous adverse reaction' 'Stevens-Johnson syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Stevens-Johnson syndrome' SubClassOf 'has_disease_location' some 'zone of skin' 'Stevens-Johnson syndrome' SubClassOf 'severe cutaneous adverse reaction' 'Stevens-Johnson syndrome' SubClassOf 'toxic epidermal necrolysis' http://www.ebi.ac.uk/efo/EFO_0004277 brain infarction 'brain infarction' SubClassOf 'cerebrovascular disorder' 'brain infarction' SubClassOf 'brain disease' 'brain infarction' SubClassOf 'cerebrovascular disorder' 'brain infarction' SubClassOf 'has_disease_location' some 'brain blood vessel' http://www.ebi.ac.uk/efo/EFO_0004274 gout 'gout' SubClassOf 'disease has feature' some http://purl.obolibrary.org/obo/MONDO_0003366 'gout' SubClassOf 'metabolic disease' 'gout' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024297 http://www.ebi.ac.uk/efo/EFO_0004275 obsolete_sick sinus syndrome 'obsolete_sick sinus syndrome' SubClassOf 'obsolete class' 'obsolete_sick sinus syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_101972 Combined T and B cell immunodeficiency 'Combined T and B cell immunodeficiency' SubClassOf 'Primary immunodeficiency due to a defect in adaptive immunity' 'Combined T and B cell immunodeficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021094 'Combined T and B cell immunodeficiency' SubClassOf 'Primary immunodeficiency due to a defect in adaptive immunity' 'Combined T and B cell immunodeficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003847 http://www.ebi.ac.uk/efo/EFO_0004278 sudden cardiac arrest 'sudden cardiac arrest' SubClassOf http://purl.obolibrary.org/obo/MONDO_0007263 'sudden cardiac arrest' SubClassOf 'has_disease_location' some ('heart' or ('part_of' some 'heart')) http://www.orpha.net/ORDO/Orphanet_352587 Focal epilepsy - intellectual disability - cerebro-cerebellar malformation 'Focal epilepsy - intellectual disability - cerebro-cerebellar malformation' SubClassOf 'Cerebral malformation with epilepsy' 'Focal epilepsy - intellectual disability - cerebro-cerebellar malformation' SubClassOf 'Monogenic disease with epilepsy' 'Focal epilepsy - intellectual disability - cerebro-cerebellar malformation' SubClassOf 'Cerebral malformation with epilepsy' 'Focal epilepsy - intellectual disability - cerebro-cerebellar malformation' SubClassOf 'Monogenic disease with epilepsy' http://purl.obolibrary.org/obo/UBERON_2000627 epihyal http://purl.obolibrary.org/obo/UBERON_0011611 DisjointWith 'epihyal' 'epihyal' SubClassOf http://purl.obolibrary.org/obo/UBERON_0002513 http://www.orpha.net/ORDO/Orphanet_352582 Familial infantile myoclonic epilepsy 'Familial infantile myoclonic epilepsy' SubClassOf 'Monogenic disease with epilepsy' 'Familial infantile myoclonic epilepsy' SubClassOf 'Infantile epilepsy syndrome' 'Familial infantile myoclonic epilepsy' SubClassOf 'Monogenic disease with epilepsy' 'Familial infantile myoclonic epilepsy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016401 'Familial infantile myoclonic epilepsy' SubClassOf 'Myoclonic epilepsy of infancy' 'Familial infantile myoclonic epilepsy' SubClassOf 'Early myoclonic encephalopathy' http://www.ebi.ac.uk/efo/EFO_0004280 movement disorder 'movement disorder' SubClassOf 'nervous system disease' 'movement disorder' SubClassOf 'nervous system disease' http://purl.obolibrary.org/obo/BTO_0000133 blood serum 'blood serum' SubClassOf 'part_of' some 'blood plasma' http://www.ebi.ac.uk/efo/EFO_0004261 osteitis deformans 'osteitis deformans' SubClassOf 'bone disease' 'osteitis deformans' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002185 http://www.ebi.ac.uk/efo/EFO_0005592 T-cell leukemia 'T-cell leukemia' SubClassOf 'lymphoid leukemia' 'T-cell leukemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004805 'T-cell leukemia' SubClassOf 'lymphoid leukemia' http://www.orpha.net/ORDO/Orphanet_101988 Primary immunodeficiency due to a defect in innate immunity 'Primary immunodeficiency due to a defect in innate immunity' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Primary immunodeficiency due to a defect in innate immunity' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003778 http://www.ebi.ac.uk/efo/EFO_0004262 panic disorder 'panic disorder' SubClassOf 'anxiety disorder' 'panic disorder' SubClassOf 'anxiety disorder' http://www.ebi.ac.uk/efo/EFO_0005593 tetanus 'tetanus' SubClassOf 'bacterial disease' 'tetanus' SubClassOf 'has_participant' some 'Clostridium tetani' 'tetanus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000314 'tetanus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020010 'tetanus' SubClassOf 'commensal Clostridium infectious disease' http://www.ebi.ac.uk/efo/EFO_0005590 steroid inherited metabolic disorder 'steroid inherited metabolic disorder' SubClassOf 'metabolic disease' 'steroid inherited metabolic disorder' SubClassOf 'Disorder of lipid metabolism' 'steroid inherited metabolic disorder' SubClassOf 'realized_in' some ('disease course' and ('has part' some 'metabolic process')) http://www.orpha.net/ORDO/Orphanet_91412 Marcus-Gunn syndrome 'Marcus-Gunn syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003569 'Marcus-Gunn syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020169 http://www.ebi.ac.uk/efo/EFO_0004260 bone disease 'bone disease' SubClassOf 'skeletal system disease' 'bone disease' SubClassOf 'has_disease_location' some 'bone' 'bone disease' EquivalentTo 'has_disease_location' some 'bone' 'bone disease' SubClassOf 'skeletal system disease' 'bone disease' SubClassOf 'connective tissue disease' http://www.ebi.ac.uk/efo/EFO_0005591 sweat gland carcinoma 'sweat gland carcinoma' SubClassOf 'skin carcinoma' 'sweat gland carcinoma' SubClassOf 'skin appendage carcinoma' 'sweat gland carcinoma' SubClassOf 'has_disease_location' some 'zone of skin' 'sweat gland carcinoma' EquivalentTo 'carcinoma' and ('has_disease_location' some ('sweat gland' or ('part_of' some 'sweat gland'))) 'sweat gland carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002206 'sweat gland carcinoma' SubClassOf 'adenocarcinoma' http://www.orpha.net/ORDO/Orphanet_101987 Constitutional neutropenia 'Constitutional neutropenia' SubClassOf 'Primary immunodeficiency due to a defect in innate immunity' 'Constitutional neutropenia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015133 'Constitutional neutropenia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001475 'Constitutional neutropenia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0009332 http://www.orpha.net/ORDO/Orphanet_91413 Congenital Horner syndrome 'Congenital Horner syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020169 http://www.ebi.ac.uk/efo/EFO_0004265 peripheral arterial disease 'peripheral arterial disease' SubClassOf 'peripheral vascular disease' 'peripheral arterial disease' SubClassOf 'has_disease_location' some ('peroneal artery' or ('part_of' some 'peroneal artery')) 'peripheral arterial disease' SubClassOf 'has_disease_location' some ('tibial artery' or ('part_of' some 'tibial artery')) 'peripheral arterial disease' SubClassOf 'has_disease_location' some ('femoral artery' or ('part_of' some 'femoral artery')) 'peripheral arterial disease' SubClassOf 'has_disease_location' some ('iliac artery' or ('part_of' some 'iliac artery')) 'peripheral arterial disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000473 'peripheral arterial disease' SubClassOf 'peripheral vascular disease' 'peripheral arterial disease' SubClassOf 'has_disease_location' some ('abdominal aorta' or ('part_of' some 'abdominal aorta')) 'peripheral arterial disease' SubClassOf 'has_disease_location' some ('popliteal artery' or ('part_of' some 'popliteal artery')) http://www.ebi.ac.uk/efo/EFO_0005596 vitamin metabolic disorder 'vitamin metabolic disorder' SubClassOf 'metabolic disease' 'vitamin metabolic disorder' SubClassOf 'Inborn errors of metabolism' 'vitamin metabolic disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024298 'vitamin metabolic disorder' SubClassOf 'realized_in' some ('disease course' and ('has part' some 'metabolic process')) 'vitamin metabolic disorder' EquivalentTo 'participates_in' some ('vitamin metabolic process' and ('has component' some 'abnormal')) http://www.ebi.ac.uk/efo/EFO_0004266 primary ovarian insufficiency 'primary ovarian insufficiency' SubClassOf 'endocrine system disease' 'primary ovarian insufficiency' SubClassOf 'ovarian disease' http://www.orpha.net/ORDO/Orphanet_364574 Acrofacial dysostosis 'Acrofacial dysostosis' SubClassOf 'Dysostosis with limb and face anomalies as a major feature' 'Acrofacial dysostosis' SubClassOf 'Syndrome with brachydactyly' 'Acrofacial dysostosis' SubClassOf 'Dysostosis with limb and face anomalies as a major feature' 'Acrofacial dysostosis' SubClassOf 'Syndrome with brachydactyly' http://www.orpha.net/ORDO/Orphanet_268392 Cervical spina bifida aperta 'Cervical spina bifida aperta' SubClassOf 'Spina bifida aperta' 'Cervical spina bifida aperta' SubClassOf 'Spina bifida aperta' http://www.orpha.net/ORDO/Orphanet_91411 Congenital ptosis 'Congenital ptosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020169 'Congenital ptosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000728 http://www.ebi.ac.uk/efo/EFO_0004263 partial epilepsy 'partial epilepsy' SubClassOf 'epilepsy' 'partial epilepsy' SubClassOf 'epilepsy' http://www.orpha.net/ORDO/Orphanet_364577 Intellectual disability-brachydactyly-Pierre Robin syndrome 'Intellectual disability-brachydactyly-Pierre Robin syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Intellectual disability-brachydactyly-Pierre Robin syndrome' SubClassOf 'Syndrome with brachydactyly' 'Intellectual disability-brachydactyly-Pierre Robin syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015319 'Intellectual disability-brachydactyly-Pierre Robin syndrome' SubClassOf 'Genetic syndromic Pierre Robin syndrome' 'Intellectual disability-brachydactyly-Pierre Robin syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 'Intellectual disability-brachydactyly-Pierre Robin syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Intellectual disability-brachydactyly-Pierre Robin syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Intellectual disability-brachydactyly-Pierre Robin syndrome' SubClassOf 'Syndrome with brachydactyly' 'Intellectual disability-brachydactyly-Pierre Robin syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 http://www.ebi.ac.uk/efo/EFO_0004264 vascular disease 'vascular disease' SubClassOf 'cardiovascular disease' 'vascular disease' SubClassOf 'cardiovascular disease' 'vascular disease' EquivalentTo 'disease' and ('has_disease_location' some ('blood vessel' or ('part_of' some 'blood vessel'))) http://www.ebi.ac.uk/efo/EFO_0005595 toxic encephalopathy 'toxic encephalopathy' SubClassOf 'nervous system disease' 'toxic encephalopathy' SubClassOf 'nervous system disease' http://purl.obolibrary.org/obo/CHEBI_78604 ursodeoxycholate 'ursodeoxycholate' SubClassOf 'chemical entity' 'ursodeoxycholate' SubClassOf 'chemical entity' http://www.ebi.ac.uk/efo/EFO_0004269 cardiac arrhythmia 'cardiac arrhythmia' SubClassOf 'has phenotype' some 'prolonged QT interval' http://www.orpha.net/ORDO/Orphanet_364571 Dysostosis with limb and face anomalies as a major feature 'Dysostosis with limb and face anomalies as a major feature' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' 'Dysostosis with limb and face anomalies as a major feature' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' http://www.ebi.ac.uk/efo/EFO_0004268 sclerosing cholangitis 'sclerosing cholangitis' SubClassOf 'biliary tract disease' 'sclerosing cholangitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004789 'sclerosing cholangitis' SubClassOf 'has_disease_location' some 'biliary system' 'sclerosing cholangitis' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://www.orpha.net/ORDO/Orphanet_91416 Isolated congenital alacrima 'Isolated congenital alacrima' SubClassOf 'Congenital alacrima' 'Isolated congenital alacrima' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021128 'Isolated congenital alacrima' EquivalentTo 'Congenital alacrima' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021128) 'Isolated congenital alacrima' SubClassOf 'Congenital alacrima' http://purl.obolibrary.org/obo/UBERON_2000610 vertical myoseptum 'vertical myoseptum' SubClassOf 'zebrafish component' 'vertical myoseptum' SubClassOf 'myoseptum' http://www.orpha.net/ORDO/Orphanet_137902 Isolated optic nerve hypoplasia 'Isolated optic nerve hypoplasia' SubClassOf 'Optic neuropathy' 'Isolated optic nerve hypoplasia' SubClassOf 'Optic neuropathy' http://www.orpha.net/ORDO/Orphanet_352596 Progressive myoclonic epilepsy with dystonia 'Progressive myoclonic epilepsy with dystonia' SubClassOf 'Infantile epilepsy syndrome' 'Progressive myoclonic epilepsy with dystonia' SubClassOf 'Infantile epilepsy syndrome' http://purl.obolibrary.org/obo/CLO_0023794 GM10832 'GM10832' SubClassOf 'has_quality' some 'male' 'GM10832' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM10832' SubClassOf 'cultured cell' http://www.orpha.net/ORDO/Orphanet_268397 Cervicothoracic spina bifida aperta 'Cervicothoracic spina bifida aperta' SubClassOf 'Spina bifida aperta' 'Cervicothoracic spina bifida aperta' SubClassOf 'Spina bifida aperta' http://purl.obolibrary.org/obo/CLO_0023795 GM10833 'GM10833' SubClassOf 'cultured cell' 'GM10833' SubClassOf 'has_quality' some 'female' 'GM10833' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/CHEBI_39384 lufenuron 'lufenuron' SubClassOf 'has_role' some 'insecticide' http://purl.obolibrary.org/obo/PO_0025615 rosette 'rosette' SubClassOf 'collective leaf structure' 'rosette' SubClassOf 'collective leaf structure' http://purl.obolibrary.org/obo/CHEBI_78990 (10Z)-heptadecenoate '(10Z)-heptadecenoate' SubClassOf 'lipid' '(10Z)-heptadecenoate' SubClassOf 'lipid' http://www.orpha.net/ORDO/Orphanet_268770 Upper thoracic spina bifida cystica 'Upper thoracic spina bifida cystica' SubClassOf 'Myelomeningocele' 'Upper thoracic spina bifida cystica' SubClassOf 'Myelomeningocele' http://www.orpha.net/ORDO/Orphanet_268766 Cervicothoracic spina bifida cystica 'Cervicothoracic spina bifida cystica' SubClassOf 'Myelomeningocele' 'Cervicothoracic spina bifida cystica' SubClassOf 'Myelomeningocele' http://www.orpha.net/ORDO/Orphanet_268762 Cervical spina bifida cystica 'Cervical spina bifida cystica' SubClassOf 'Myelomeningocele' 'Cervical spina bifida cystica' SubClassOf 'Myelomeningocele' http://purl.obolibrary.org/obo/BTO_0001093 WEHI-231 cell 'WEHI-231 cell' SubClassOf 'derives_from' some ('cell type' and ('part_of' some (('developmental stage' or 'organism part') and ('part_of' some 'Mus')))) http://www.orpha.net/ORDO/Orphanet_268758 Lumbosacral spina bifida cystica 'Lumbosacral spina bifida cystica' SubClassOf 'Myelomeningocele' 'Lumbosacral spina bifida cystica' SubClassOf 'Myelomeningocele' http://www.orpha.net/ORDO/Orphanet_268752 Thoracolumbosacral spina bifida cystica 'Thoracolumbosacral spina bifida cystica' SubClassOf 'Myelomeningocele' 'Thoracolumbosacral spina bifida cystica' SubClassOf 'Myelomeningocele' http://purl.obolibrary.org/obo/CHEBI_15365 acetylsalicylic acid 'acetylsalicylic acid' SubClassOf 'has_role' some 'drug role' http://purl.obolibrary.org/obo/CHEBI_38000 uniconazole-P 'uniconazole-P' SubClassOf 'has_role' some 'plant growth retardant' http://purl.obolibrary.org/obo/CHEBI_15361 pyruvate 'pyruvate' SubClassOf 'chemical entity' 'pyruvate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_28680 cytarabine 'cytarabine' SubClassOf 'has_role' some 'drug role' http://purl.obolibrary.org/obo/CHEBI_75034 1-stearoyl-2-oleoyl-sn-glycero-3-phosphocholine '1-stearoyl-2-oleoyl-sn-glycero-3-phosphocholine' SubClassOf 'phospholipid' '1-stearoyl-2-oleoyl-sn-glycero-3-phosphocholine' SubClassOf 'phospholipid' http://purl.obolibrary.org/obo/CHEBI_28683 kynurenine 'kynurenine' SubClassOf 'chemical entity' 'kynurenine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_16682 N-acetyl-beta-alanine 'N-acetyl-beta-alanine' SubClassOf 'chemical entity' 'N-acetyl-beta-alanine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/BTO_0001033 prostate cancer cell line 'prostate cancer cell line' SubClassOf 'cultured cell' and ('bearer_of' some 'prostate carcinoma') http://purl.obolibrary.org/obo/BTO_0003699 C1R cell 'C1R cell' SubClassOf 'derives_from' some 'B cell derived cell line' http://purl.obolibrary.org/obo/CHEBI_15354 choline 'choline' SubClassOf 'chemical entity' 'choline' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_16680 S-adenosyl-L-homocysteine 'S-adenosyl-L-homocysteine' SubClassOf 'chemical entity' 'S-adenosyl-L-homocysteine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_16688 ecdysone 'ecdysone' SubClassOf 'has_role' some 'hormone role' http://purl.obolibrary.org/obo/CHEBI_27363 Zinc 'Zinc' SubClassOf 'has_role' some 'micronutrient' http://www.orpha.net/ORDO/Orphanet_293707 Blepharophimosis-intellectual disability syndrome, MKB type 'Blepharophimosis-intellectual disability syndrome, MKB type' SubClassOf 'Blepharophimosis-intellectual disability syndrome' 'Blepharophimosis-intellectual disability syndrome, MKB type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000734 'Blepharophimosis-intellectual disability syndrome, MKB type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100000 http://purl.obolibrary.org/obo/BTO_0001038 peritrophic membrane 'peritrophic membrane' SubClassOf 'part_of' some 'midgut' http://www.orpha.net/ORDO/Orphanet_90390 Anonychia - onychodystrophy 'Anonychia - onychodystrophy' SubClassOf 'Congenital anonychia' 'Anonychia - onychodystrophy' SubClassOf 'Congenital anonychia' http://www.orpha.net/ORDO/Orphanet_280406 Familial steroid-resistant nephrotic syndrome with sensorineural deafness 'Familial steroid-resistant nephrotic syndrome with sensorineural deafness' SubClassOf 'Syndromic genetic deafness' 'Familial steroid-resistant nephrotic syndrome with sensorineural deafness' SubClassOf 'Primary glomerular disease' 'Familial steroid-resistant nephrotic syndrome with sensorineural deafness' SubClassOf 'Familial idiopathic steroid-resistant nephrotic syndrome' 'Familial steroid-resistant nephrotic syndrome with sensorineural deafness' SubClassOf 'Coenzyme Q10 deficiency' 'Familial steroid-resistant nephrotic syndrome with sensorineural deafness' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_280403 Familial omphalocele syndrome with facial dysmorphism 'Familial omphalocele syndrome with facial dysmorphism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015216 http://purl.obolibrary.org/obo/PO_0025606 native plant cell 'native plant cell' SubClassOf 'plant cell' 'native plant cell' SubClassOf 'plant cell' http://purl.obolibrary.org/obo/CHEBI_29995 aspartate(2-) 'aspartate(2-)' SubClassOf 'chemical entity' 'aspartate(2-)' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_28661 gamma-linolenic acid 'gamma-linolenic acid' SubClassOf 'linolenic acid' 'gamma-linolenic acid' SubClassOf 'linolenic acid' http://www.orpha.net/ORDO/Orphanet_100932 Nuclear oculomotor paralysis 'Nuclear oculomotor paralysis' SubClassOf 'Oculomotor palsy' 'Nuclear oculomotor paralysis' SubClassOf 'Oculomotor palsy' http://purl.obolibrary.org/obo/CHEBI_15377 water 'water' SubClassOf 'has_role' some 'amphiprotic solvent role' http://www.orpha.net/ORDO/Orphanet_293725 Blepharophimosis-intellectual disability syndrome, Verloes type 'Blepharophimosis-intellectual disability syndrome, Verloes type' SubClassOf 'Blepharophimosis-intellectual disability syndrome' 'Blepharophimosis-intellectual disability syndrome, Verloes type' SubClassOf 'Blepharophimosis-intellectual disability syndrome' http://purl.obolibrary.org/obo/CHEBI_27345 xylonate 'xylonate' SubClassOf 'chemical entity' 'xylonate' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_100924 Porphyria due to ALA dehydratase deficiency 'Porphyria due to ALA dehydratase deficiency' SubClassOf 'Acute hepatic porphyria' 'Porphyria due to ALA dehydratase deficiency' SubClassOf 'Acute hepatic porphyria' http://purl.obolibrary.org/obo/CHEBI_75062 1-myristoyl-2-palmitoyl-sn-glycero-3-phosphocholine '1-myristoyl-2-palmitoyl-sn-glycero-3-phosphocholine' SubClassOf 'phospholipid' '1-myristoyl-2-palmitoyl-sn-glycero-3-phosphocholine' SubClassOf 'phospholipid' http://www.orpha.net/ORDO/Orphanet_231401 Alpha-thalassemia - myelodysplastic syndrome 'Alpha-thalassemia - myelodysplastic syndrome' SubClassOf 'Alpha-thalassemia-related diseases' 'Alpha-thalassemia - myelodysplastic syndrome' SubClassOf 'Alpha-thalassemia-related diseases' http://purl.obolibrary.org/obo/CHEBI_15318 xanthine 'xanthine' SubClassOf 'chemical entity' 'xanthine' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_364198 Bipartite talus 'Bipartite talus' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' 'Bipartite talus' SubClassOf 'Non-syndromic limb malformation' 'Bipartite talus' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' 'Bipartite talus' SubClassOf 'Non-syndromic limb malformation' http://purl.obolibrary.org/obo/CHEBI_28654 3-methyl-2-oxovalerate '3-methyl-2-oxovalerate' SubClassOf 'chemical entity' '3-methyl-2-oxovalerate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_28623 campesterol 'campesterol' SubClassOf 'steroid' 'campesterol' SubClassOf 'steroid' http://purl.obolibrary.org/obo/CHEBI_29959 quinolinate(2-) 'quinolinate(2-)' SubClassOf 'chemical entity' 'quinolinate(2-)' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_391799 Rare genetic dystonia 'Rare genetic dystonia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003441 'Rare genetic dystonia' SubClassOf 'Rare genetic tremor disorder' 'Rare genetic dystonia' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0003441 and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) http://purl.obolibrary.org/obo/CHEBI_16668 hypotaurine 'hypotaurine' SubClassOf 'chemical entity' 'hypotaurine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_27300 Vitamin D 'Vitamin D' SubClassOf 'has_role' some 'vitamin' http://purl.obolibrary.org/obo/GO_0005730 nucleolus 'nucleolus' SubClassOf 'part_of' some 'nuclear lumen' http://www.orpha.net/ORDO/Orphanet_42738 Severe congenital neutropenia 'Severe congenital neutropenia' SubClassOf 'Constitutional neutropenia' 'Severe congenital neutropenia' SubClassOf 'Constitutional neutropenia' http://www.ebi.ac.uk/efo/EFO_0005901 ELF-1 'ELF-1' SubClassOf 'is_input_of' some 'ENCODE functional genome mapping' 'ELF-1' SubClassOf 'has_quality' some 'female' 'ELF-1' SubClassOf 'derives_from' some ('embryonic stem cell' and ('part_of' some ('embryo' and ('part_of' some 'Homo sapiens')))) 'ELF-1' SubClassOf 'derives_from' some 'stem cell' http://purl.obolibrary.org/obo/CHEBI_16610 spermidine 'spermidine' SubClassOf 'chemical entity' 'spermidine' SubClassOf 'chemical entity' http://www.ebi.ac.uk/efo/EFO_0005900 auxin 'auxin' EquivalentTo 'has_role' some 'auxin role' http://www.ebi.ac.uk/efo/EFO_0005905 obsolete_Oci-Ly-7 'obsolete_Oci-Ly-7' SubClassOf 'obsolete class' 'obsolete_Oci-Ly-7' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_268744 Spina bifida cystica 'Spina bifida cystica' SubClassOf 'Isolated spina bifida' 'Spina bifida cystica' SubClassOf 'Isolated spina bifida' 'Spina bifida cystica' SubClassOf 'spina bifida' http://www.ebi.ac.uk/efo/EFO_0005903 KBM-7 'KBM-7' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'KBM-7' SubClassOf 'bearer_of' some 'chronic myelogenous leukemia' 'KBM-7' SubClassOf 'has_quality' some 'male' 'KBM-7' SubClassOf 'is_input_of' some 'ENCODE functional genome mapping' http://www.ebi.ac.uk/efo/EFO_0005904 H7-hESC 'H7-hESC' SubClassOf 'derives_from' some ('embryonic stem cell' and ('part_of' some ('embryo' and ('part_of' some 'Homo sapiens')))) 'H7-hESC' SubClassOf 'is_input_of' some 'ENCODE functional genome mapping' 'H7-hESC' SubClassOf 'has_quality' some 'female' http://www.ebi.ac.uk/efo/EFO_0005909 HGADFN167 'HGADFN167' SubClassOf 'has_quality' some 'male' 'HGADFN167' SubClassOf 'is_input_of' some 'ENCODE functional genome mapping' 'HGADFN167' SubClassOf 'derives_from' some 'dermis' 'HGADFN167' SubClassOf 'derives_from' some ('fibroblast' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'HGADFN167' SubClassOf 'bearer_of' some 'Hutchinson-Gilford progeria syndrome' http://www.orpha.net/ORDO/Orphanet_268748 Total spina bifida cystica 'Total spina bifida cystica' SubClassOf 'Myelomeningocele' 'Total spina bifida cystica' SubClassOf 'Myelomeningocele' http://www.ebi.ac.uk/efo/EFO_0005907 OCI-LY1 'OCI-LY1' SubClassOf 'has_quality' some 'male' 'OCI-LY1' SubClassOf 'derives_from' some 'bone marrow' 'OCI-LY1' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'OCI-LY1' SubClassOf 'is_input_of' some 'ENCODE functional genome mapping' http://purl.obolibrary.org/obo/CHEBI_17939 puromycin 'puromycin' SubClassOf 'has_role' some 'antimicrobial agent' http://www.ebi.ac.uk/efo/EFO_0005908 obsolete_Oci-Ly-3 'obsolete_Oci-Ly-3' SubClassOf 'obsolete class' 'obsolete_Oci-Ly-3' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_268740 Upper thoracic spina bifida aperta 'Upper thoracic spina bifida aperta' SubClassOf 'Spina bifida aperta' 'Upper thoracic spina bifida aperta' SubClassOf 'Spina bifida aperta' http://purl.obolibrary.org/obo/CHEBI_16602 trichloroethylene 'trichloroethylene' SubClassOf 'has_role' some 'inhalation anaesthetic' http://purl.obolibrary.org/obo/CL_0002319 neural cell 'neural cell' SubClassOf 'located_in' some 'nervous system' http://purl.obolibrary.org/obo/CHEBI_30921 glutarate(2-) 'glutarate(2-)' SubClassOf 'chemical entity' 'glutarate(2-)' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_30920 3-hydroxy-3-methylglutarate(1-) '3-hydroxy-3-methylglutarate(1-)' SubClassOf 'chemical entity' '3-hydroxy-3-methylglutarate(1-)' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_329813 Mosaic genome-wide paternal uniparental disomy 'Mosaic genome-wide paternal uniparental disomy' SubClassOf 'Autosomal uniparental disomy' 'Mosaic genome-wide paternal uniparental disomy' SubClassOf 'Autosomal uniparental disomy' http://purl.obolibrary.org/obo/CL_0002321 embryonic cell 'embryonic cell' EquivalentTo 'cell type' and ('participates_in' some 'embryo') http://purl.obolibrary.org/obo/CHEBI_28610 1-O-oleoyl-sn-glycero-3-phosphocholine '1-O-oleoyl-sn-glycero-3-phosphocholine' SubClassOf 'chemical entity' '1-O-oleoyl-sn-glycero-3-phosphocholine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/GO_0005758 mitochondrial intermembrane space 'mitochondrial intermembrane space' SubClassOf 'part_of' some 'mitochondrial envelope' http://www.orpha.net/ORDO/Orphanet_171208 Intermediate anorectal malformation 'Intermediate anorectal malformation' SubClassOf 'Isolated anorectal malformation' 'Intermediate anorectal malformation' SubClassOf 'Isolated anorectal malformation' http://www.ebi.ac.uk/efo/EFO_0005923 AVL induced bursal lymphoma 'AVL induced bursal lymphoma' SubClassOf 'animal disease' 'AVL induced bursal lymphoma' SubClassOf 'animal disease' 'AVL induced bursal lymphoma' SubClassOf 'only_in_taxon' some 'Gallus gallus' http://purl.obolibrary.org/obo/CHEBI_16632 vanillate 'vanillate' SubClassOf 'chemical entity' 'vanillate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CL_0002327 mammary epithelial cell 'mammary epithelial cell' SubClassOf 'located_in' some 'mammary gland' http://www.ebi.ac.uk/efo/EFO_0005924 binge eating 'binge eating' SubClassOf 'eating disorder' 'binge eating' SubClassOf 'eating disorder' http://www.ebi.ac.uk/efo/EFO_0005921 FEV change measurement 'FEV change measurement' SubClassOf 'is_about' some 'respiratory system disease' 'FEV change measurement' SubClassOf 'is_about' some 'respiratory system' http://www.ebi.ac.uk/efo/EFO_0005922 esophageal squamous cell carcinoma 'esophageal squamous cell carcinoma' SubClassOf 'squamous cell carcinoma' 'esophageal squamous cell carcinoma' SubClassOf 'esophageal carcinoma' 'esophageal squamous cell carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019086 'esophageal squamous cell carcinoma' SubClassOf 'has_disease_location' some ('esophagus' or ('part_of' some 'esophagus')) 'esophageal squamous cell carcinoma' SubClassOf 'squamous cell carcinoma' 'esophageal squamous cell carcinoma' SubClassOf 'has_disease_location' some 'esophagus' 'esophageal squamous cell carcinoma' SubClassOf 'esophageal carcinoma' http://www.orpha.net/ORDO/Orphanet_329802 5p13 microduplication syndrome '5p13 microduplication syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '5p13 microduplication syndrome' SubClassOf 'Partial trisomy/tetrasomy of the short arm of chromosome 5' '5p13 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 '5p13 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 '5p13 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000762 '5p13 microduplication syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '5p13 microduplication syndrome' SubClassOf 'Partial trisomy/tetrasomy of the short arm of chromosome 5' http://www.orpha.net/ORDO/Orphanet_28455 Pancreatic beta cell agenesis with neonatal diabetes mellitus 'Pancreatic beta cell agenesis with neonatal diabetes mellitus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003847 'Pancreatic beta cell agenesis with neonatal diabetes mellitus' SubClassOf 'Inborn errors of metabolism' http://www.orpha.net/ORDO/Orphanet_171215 Low anorectal malformation 'Low anorectal malformation' SubClassOf 'Isolated anorectal malformation' 'Low anorectal malformation' SubClassOf 'Isolated anorectal malformation' http://www.ebi.ac.uk/efo/EFO_0005912 hTERT-HM 'hTERT-HM' SubClassOf 'is_input_of' some 'ENCODE functional genome mapping' 'hTERT-HM' SubClassOf 'derives_from' some 'myometrium' 'hTERT-HM' SubClassOf 'has_quality' some 'female' 'hTERT-HM' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0005913 urothelium cell line 'urothelium cell line' SubClassOf 'derives_from' some 'urothelium' 'urothelium cell line' SubClassOf 'is_input_of' some 'ENCODE functional genome mapping' 'urothelium cell line' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'urothelium cell line' SubClassOf 'has_quality' some 'female' http://www.ebi.ac.uk/efo/EFO_0005910 ES-D3 'ES-D3' SubClassOf 'derives_from' some ('embryonic stem cell' and ('part_of' some ('embryo' and ('part_of' some 'Mus musculus')))) 'ES-D3' SubClassOf 'is_input_of' some 'ENCODE functional genome mapping' 'ES-D3' SubClassOf 'has_quality' some 'male' 'ES-D3' SubClassOf 'derives_from' some 'blastocyst' http://www.ebi.ac.uk/efo/EFO_0005916 ES-CJ7 'ES-CJ7' SubClassOf 'has_quality' some 'male' 'ES-CJ7' SubClassOf 'derives_from' some ('embryonic stem cell' and ('part_of' some ('embryo' and ('part_of' some 'Mus musculus')))) http://www.ebi.ac.uk/efo/EFO_0005917 generalised epilepsy 'generalised epilepsy' SubClassOf 'epilepsy' 'generalised epilepsy' SubClassOf 'epilepsy' http://www.ebi.ac.uk/efo/EFO_0005914 ZHBTc4-mESC 'ZHBTc4-mESC' SubClassOf 'derives_from' some ('embryonic stem cell' and ('part_of' some ('embryo' and ('part_of' some 'Mus musculus')))) 'ZHBTc4-mESC' SubClassOf 'has_quality' some 'male' http://www.orpha.net/ORDO/Orphanet_158266 Huntington disease-like syndrome 'Huntington disease-like syndrome' SubClassOf 'Genetic neurodegenerative disease' 'Huntington disease-like syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000167 'Huntington disease-like syndrome' SubClassOf 'Genetic dementia' http://www.ebi.ac.uk/efo/EFO_0005915 WW6 'WW6' SubClassOf 'derives_from' some ('embryonic stem cell' and ('part_of' some ('embryo' and ('part_of' some 'Mus musculus')))) 'WW6' SubClassOf 'has_quality' some 'male' http://www.ebi.ac.uk/efo/EFO_0005918 osteoprotegerin measurement 'osteoprotegerin measurement' SubClassOf 'is_about' some 'protein' 'osteoprotegerin measurement' SubClassOf 'is_about' some 'cardiovascular disease' http://www.ebi.ac.uk/efo/EFO_0005919 recombination measurement 'recombination measurement' SubClassOf 'is_about' some 'genome' 'recombination measurement' SubClassOf 'is_about' some 'recombination' http://www.orpha.net/ORDO/Orphanet_171220 Rectal duplication 'Rectal duplication' SubClassOf 'Anorectal malformation' 'Rectal duplication' SubClassOf 'Anorectal malformation' http://www.ebi.ac.uk/efo/EFO_0005820 mbn2 'mbn2' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('larval stage' and 'embryo' and ('part_of' some 'Drosophila melanogaster')))) 'mbn2' SubClassOf 'is_input_of' some 'ENCODE functional genome mapping' http://www.ebi.ac.uk/efo/EFO_0005821 ML-DmBG1-c1 'ML-DmBG1-c1' SubClassOf 'is_input_of' some 'ENCODE functional genome mapping' 'ML-DmBG1-c1' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('central nervous system' and 'third instar larva stage' and ('part_of' some 'Drosophila melanogaster')))) http://www.ebi.ac.uk/efo/EFO_0005824 ML-DmD11 'ML-DmD11' SubClassOf 'is_input_of' some 'ENCODE functional genome mapping' 'ML-DmD11' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('eye-antennal disc' and 'third instar larva stage' and ('part_of' some 'Drosophila melanogaster')))) http://www.ebi.ac.uk/efo/EFO_0005825 ML-DmD16-c3 'ML-DmD16-c3' SubClassOf 'is_input_of' some 'ENCODE functional genome mapping' 'ML-DmD16-c3' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('wing disc' and 'third instar larva stage' and ('part_of' some 'Drosophila melanogaster')))) 'ML-DmD16-c3' SubClassOf 'has_quality' some 'female' http://www.ebi.ac.uk/efo/EFO_0005822 ML-DmBG2-c2 'ML-DmBG2-c2' SubClassOf 'has_quality' some 'male' 'ML-DmBG2-c2' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('central nervous system' and 'third instar larva stage' and ('part_of' some 'Drosophila melanogaster')))) 'ML-DmBG2-c2' SubClassOf 'is_input_of' some 'ENCODE functional genome mapping' http://www.ebi.ac.uk/efo/EFO_0005823 ML-DmBG3-c2 'ML-DmBG3-c2' SubClassOf 'is_input_of' some 'ENCODE functional genome mapping' 'ML-DmBG3-c2' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('central nervous system' and 'third instar larva stage' and ('part_of' some 'Drosophila melanogaster')))) http://www.ebi.ac.uk/efo/EFO_0005828 ML-DmD20-c5 'ML-DmD20-c5' SubClassOf 'has_quality' some 'male' 'ML-DmD20-c5' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('antennal disc' and 'third instar larva stage' and ('part_of' some 'Drosophila melanogaster')))) 'ML-DmD20-c5' SubClassOf 'is_input_of' some 'ENCODE functional genome mapping' http://www.ebi.ac.uk/efo/EFO_0005829 ML-DmD21 'ML-DmD21' SubClassOf 'has_quality' some 'male' 'ML-DmD21' SubClassOf 'is_input_of' some 'ENCODE functional genome mapping' 'ML-DmD21' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('wing disc' and 'third instar larva stage' and ('part_of' some 'Drosophila melanogaster')))) http://www.ebi.ac.uk/efo/EFO_0005826 ML-DmD17-c3 'ML-DmD17-c3' SubClassOf 'is_input_of' some 'ENCODE functional genome mapping' 'ML-DmD17-c3' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('dorsal metathoracic disc' and 'third instar larva stage' and ('part_of' some 'Drosophila melanogaster')))) http://www.ebi.ac.uk/efo/EFO_0005827 ML-DmD20-c2 'ML-DmD20-c2' SubClassOf 'has_quality' some 'male' 'ML-DmD20-c2' SubClassOf 'is_input_of' some 'ENCODE functional genome mapping' 'ML-DmD20-c2' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('antennal disc' and 'third instar larva stage' and ('part_of' some 'Drosophila melanogaster')))) http://purl.obolibrary.org/obo/CL_0002351 progenitor cell of endocrine pancreas 'progenitor cell of endocrine pancreas' SubClassOf 'located_in' some 'pancreas' http://purl.obolibrary.org/obo/CL_0002353 fetal liver hematopoietic progenitor cell 'fetal liver hematopoietic progenitor cell' SubClassOf 'participates_in' some 'embryo' http://purl.obolibrary.org/obo/UBERON_0006238 presumptive brain 'presumptive brain' SubClassOf http://purl.obolibrary.org/obo/UBERON_0006598 http://purl.obolibrary.org/obo/UBERON_0008896 post-hyoid pharyngeal arch 'post-hyoid pharyngeal arch' SubClassOf 'pharyngeal arch' http://www.orpha.net/ORDO/Orphanet_365563 Primary short bowel syndrome 'Primary short bowel syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015183 http://purl.obolibrary.org/obo/UBERON_0006241 future spinal cord 'future spinal cord' SubClassOf 'part_of' some 'central nervous system' 'future spinal cord' SubClassOf http://purl.obolibrary.org/obo/UBERON_0006598 'future spinal cord' SubClassOf 'part_of' some 'embryo' http://www.ebi.ac.uk/efo/EFO_0005815 tauopathy 'tauopathy' SubClassOf 'neurodegenerative disease' 'tauopathy' EquivalentTo 'realized_in' some ('disease course' and ('has part' some 'microtubule-associated protein tau')) 'tauopathy' SubClassOf 'neurodegenerative disease' http://purl.obolibrary.org/obo/CL_0002363 keratocyte 'keratocyte' SubClassOf 'located_in' some 'substantia propria of cornea' http://purl.obolibrary.org/obo/UBERON_0006240 presumptive forebrain 'presumptive forebrain' SubClassOf http://purl.obolibrary.org/obo/UBERON_0006598 http://purl.obolibrary.org/obo/CL_0002364 cortical thymic epithelial cell 'cortical thymic epithelial cell' SubClassOf 'part_of' some 'thymus' 'cortical thymic epithelial cell' EquivalentTo 'epithelial cell' and ('part_of' some 'thymus') http://www.ebi.ac.uk/efo/EFO_0005819 Kc167 'Kc167' SubClassOf 'is_input_of' some 'ENCODE functional genome mapping' 'Kc167' SubClassOf 'cultured cell' 'Kc167' SubClassOf 'derives_from' some ('plasmatocyte' and ('part_of' some ('dorsal closure stage' and 'embryo' and ('part_of' some 'Drosophila melanogaster')))) 'Kc167' SubClassOf 'has_quality' some 'female' http://purl.obolibrary.org/obo/CL_0002365 medullary thymic epithelial cell 'medullary thymic epithelial cell' SubClassOf 'located_in' some 'thymus' http://purl.obolibrary.org/obo/GO_0031969 chloroplast membrane 'chloroplast membrane' SubClassOf 'part_of' some 'chloroplast envelope' http://www.ebi.ac.uk/efo/EFO_0005842 colorectal cancer 'colorectal cancer' SubClassOf 'cancer' 'colorectal cancer' SubClassOf 'digestive system disease' 'colorectal cancer' SubClassOf 'has_disease_location' some 'large intestine' 'colorectal cancer' SubClassOf 'intestinal cancer' 'colorectal cancer' SubClassOf 'colorectal neoplasm' http://www.ebi.ac.uk/efo/EFO_0004512 bone measurement 'bone measurement' EquivalentTo 'measurement' and (('is_about' some 'bone') or ('is_about' some 'bone fracture')) http://www.ebi.ac.uk/efo/EFO_0005843 cortisol measurement 'cortisol measurement' SubClassOf 'is_about' some 'mental or behavioural disorder' 'cortisol measurement' SubClassOf 'is_about' some 'endocrine system disease' 'cortisol measurement' SubClassOf 'is_about' some 'cortisol' http://www.ebi.ac.uk/efo/EFO_0005840 Pyruvate kinase hyperactivity 'Pyruvate kinase hyperactivity' SubClassOf 'Pyruvate metabolism disorder' 'Pyruvate kinase hyperactivity' SubClassOf 'Pyruvate metabolism disorder' http://www.ebi.ac.uk/efo/EFO_0004510 HPV seropositivity 'HPV seropositivity' SubClassOf 'is_about' some 'human papilloma virus infection' http://www.ebi.ac.uk/efo/EFO_0004515 muscle measurement 'muscle measurement' EquivalentTo 'measurement' and ('is_about' some 'musculature') 'muscle measurement' SubClassOf 'is_about' some 'musculature' http://www.ebi.ac.uk/efo/EFO_0005846 cryoglobulinemia 'cryoglobulinemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002459 http://www.ebi.ac.uk/efo/EFO_0004516 bone fracture related measurement 'bone fracture related measurement' EquivalentTo 'is_about' some 'bone fracture' http://www.ebi.ac.uk/efo/EFO_0004513 bone geometry 'bone geometry' SubClassOf 'is_about' some 'bone' 'bone geometry' SubClassOf 'is_about' some 'bone fracture' http://www.ebi.ac.uk/efo/EFO_0004514 bone quantitative ultrasound measurement 'bone quantitative ultrasound measurement' SubClassOf 'is_about' some 'bone' 'bone quantitative ultrasound measurement' SubClassOf 'is_about' some 'bone fracture' http://www.ebi.ac.uk/efo/EFO_0005845 hemoglobin A2 measurement 'hemoglobin A2 measurement' SubClassOf 'hemoglobin measurement' 'hemoglobin A2 measurement' SubClassOf 'is_about' some 'protein' 'hemoglobin A2 measurement' SubClassOf 'is_about' some 'Beta-thalassemia and related diseases' 'hemoglobin A2 measurement' SubClassOf 'hemoglobin measurement' http://www.ebi.ac.uk/efo/EFO_0004519 soluble P-selectin measurement 'soluble P-selectin measurement' SubClassOf 'is_about' some 'inflammatory response' 'soluble P-selectin measurement' SubClassOf 'is_about' some 'adhesion factor' 'soluble P-selectin measurement' SubClassOf 'is_about' some 'protein' 'soluble P-selectin measurement' SubClassOf 'is_about' some 'cardiovascular disease' http://www.ebi.ac.uk/efo/EFO_0004517 arterial stiffness measurement 'arterial stiffness measurement' SubClassOf 'is_about' some 'cardiovascular system' 'arterial stiffness measurement' SubClassOf 'is_about' some 'cardiovascular disease' http://www.ebi.ac.uk/efo/EFO_0004518 serum creatinine measurement 'serum creatinine measurement' SubClassOf 'is_about' some 'creatinine' 'serum creatinine measurement' SubClassOf 'is_about' some 'kidney disease' 'serum creatinine measurement' SubClassOf 'is_about' some 'kidney' http://www.ebi.ac.uk/efo/EFO_0005849 serum lipase activity measurement 'serum lipase activity measurement' SubClassOf ('is_about' some 'pancreatitis') or ('is_about' some 'Crohn's disease') or ('is_about' some 'celiac disease') or ('is_about' some 'pancreatic carcinoma') or ('is_about' some 'Cystic fibrosis') 'serum lipase activity measurement' SubClassOf 'is_about' some 'enzyme' http://purl.obolibrary.org/obo/CHEBI_16708 adenine 'adenine' SubClassOf 'chemical entity' 'adenine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/GO_0031970 organelle envelope lumen 'organelle envelope lumen' SubClassOf 'part_of' some 'organelle envelope' http://www.ebi.ac.uk/efo/EFO_0005831 ML-DmD4-c1 'ML-DmD4-c1' SubClassOf 'is_input_of' some 'ENCODE functional genome mapping' 'ML-DmD4-c1' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('imaginal disc' and 'third instar larva stage' and ('part_of' some 'Drosophila melanogaster')))) http://www.ebi.ac.uk/efo/EFO_0004501 HOMA-IR 'HOMA-IR' SubClassOf 'is_about' some 'insulin' 'HOMA-IR' SubClassOf 'is_about' some 'glucose' 'HOMA-IR' SubClassOf ('is_about' some 'diabetes mellitus') or ('is_about' some 'insulin resistance') http://www.ebi.ac.uk/efo/EFO_0005832 ML-DmD8 'ML-DmD8' SubClassOf 'is_input_of' some 'ENCODE functional genome mapping' 'ML-DmD8' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('wing disc' and 'third instar larva stage' and ('part_of' some 'Drosophila melanogaster')))) http://purl.obolibrary.org/obo/CHEBI_16704 uridine 'uridine' SubClassOf 'chemical entity' 'uridine' SubClassOf 'chemical entity' http://www.ebi.ac.uk/efo/EFO_0005830 ML-DmD32 'ML-DmD32' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('wing disc' and 'third instar larva stage' and ('part_of' some 'Drosophila melanogaster')))) 'ML-DmD32' SubClassOf 'is_input_of' some 'ENCODE functional genome mapping' http://www.ebi.ac.uk/efo/EFO_0004504 serum hepcidin measurement 'serum hepcidin measurement' SubClassOf 'is_about' some 'iron deficiency anemia' 'serum hepcidin measurement' SubClassOf 'is_about' some ('iron' and ('has_role' some 'biomarker')) 'serum hepcidin measurement' SubClassOf 'is_about' some 'hormone' http://www.ebi.ac.uk/efo/EFO_0005835 OSS 'OSS' SubClassOf 'is_input_of' some 'ENCODE functional genome mapping' 'OSS' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('female gonad' and 'adult' and ('part_of' some 'Drosophila melanogaster')))) 'OSS' SubClassOf 'has_quality' some 'female' http://www.ebi.ac.uk/efo/EFO_0004505 telomere length 'telomere length' SubClassOf 'is_about' some 'genome' 'telomere length' SubClassOf 'is_about' some 'aging' 'telomere length' SubClassOf 'is_about' some 'telomere' http://www.ebi.ac.uk/efo/EFO_0005836 S2-DRSC 'S2-DRSC' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('embryo' and 'late embryonic stage' and ('part_of' some 'Drosophila melanogaster')))) 'S2-DRSC' SubClassOf 'is_input_of' some 'ENCODE functional genome mapping' 'S2-DRSC' SubClassOf 'has_quality' some 'male' http://www.ebi.ac.uk/efo/EFO_0004502 adiponectin measurement 'adiponectin measurement' SubClassOf ('is_about' some 'gastritis') or ('is_about' some 'pancreatitis') or ('is_about' some 'cancer') or ('is_about' some 'cardiovascular disease') or ('is_about' some 'type II diabetes mellitus') or ('is_about' some 'kidney disease') or ('is_about' some 'inflammatory bowel disease') or ('is_about' some 'osteoporosis') or ('is_about' some 'gastroesophageal reflux disease') 'adiponectin measurement' SubClassOf 'is_about' some 'hormone' 'adiponectin measurement' SubClassOf 'is_about' some 'protein' http://www.ebi.ac.uk/efo/EFO_0005833 ML-DmD9 'ML-DmD9' SubClassOf 'is_input_of' some 'ENCODE functional genome mapping' 'ML-DmD9' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('wing disc' and 'third instar larva stage' and ('part_of' some 'Drosophila melanogaster')))) http://www.ebi.ac.uk/efo/EFO_0004503 hematological measurement 'hematological measurement' EquivalentTo 'measurement' and (('is_about' some 'blood cell') or ('is_about' some 'blood component')) http://www.ebi.ac.uk/efo/EFO_0005834 OSC 'OSC' SubClassOf 'has_quality' some 'female' 'OSC' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('female gonad' and 'adult' and ('part_of' some 'Drosophila melanogaster')))) 'OSC' SubClassOf 'is_input_of' some 'ENCODE functional genome mapping' http://www.ebi.ac.uk/efo/EFO_0004508 spine bone size 'spine bone size' SubClassOf 'is_about' some 'bone' http://www.ebi.ac.uk/efo/EFO_0005839 Sg4 'Sg4' SubClassOf 'is_input_of' some 'ENCODE functional genome mapping' 'Sg4' SubClassOf 'has_quality' some 'male' 'Sg4' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('embryo' and ('part_of' some 'Drosophila melanogaster')))) http://www.ebi.ac.uk/efo/EFO_0004509 hemoglobin measurement 'hemoglobin measurement' SubClassOf 'is_about' some 'protein' 'hemoglobin measurement' SubClassOf 'is_about' some 'blood component' http://www.ebi.ac.uk/efo/EFO_0004506 monocyte early outgrowth colony forming unit 'monocyte early outgrowth colony forming unit' SubClassOf 'is_about' some 'monocyte' http://www.ebi.ac.uk/efo/EFO_0005837 S2R+ 'S2R+' SubClassOf 'has_quality' some 'male' 'S2R+' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('embryo' and 'late embryonic stage' and ('part_of' some 'Drosophila melanogaster')))) 'S2R+' SubClassOf 'is_input_of' some 'ENCODE functional genome mapping' http://www.ebi.ac.uk/efo/EFO_0004507 D dimer measurement 'D dimer measurement' SubClassOf 'is_about' some 'cardiovascular disease' 'D dimer measurement' SubClassOf 'is_about' some 'protein' http://www.ebi.ac.uk/efo/EFO_0005838 S3 'S3' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('embryo' and 'late embryonic stage' and ('part_of' some 'Drosophila melanogaster')))) 'S3' SubClassOf 'is_input_of' some 'ENCODE functional genome mapping' http://purl.obolibrary.org/obo/HP_0008513 Bilateral conductive hearing impairment 'Bilateral conductive hearing impairment' SubClassOf 'Abnormality of the ear' 'Bilateral conductive hearing impairment' SubClassOf 'Abnormality of the ear' http://www.orpha.net/ORDO/Orphanet_42775 PHACE syndrome 'PHACE syndrome' SubClassOf 'Palpebral tumor with a vascular malformation' 'PHACE syndrome' SubClassOf 'Rare syndrome with cardiac malformations' 'PHACE syndrome' SubClassOf 'Genetic neurovascular malformation' 'PHACE syndrome' SubClassOf 'Genetic syndrome with a cerebellar malformation as major feature' 'PHACE syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007 'PHACE syndrome' SubClassOf 'Genetic cardiac tumor' 'PHACE syndrome' SubClassOf 'Genetic eye tumor' 'PHACE syndrome' SubClassOf 'Palpebral tumor with a vascular malformation' 'PHACE syndrome' SubClassOf 'Rare syndrome with cardiac malformations' 'PHACE syndrome' SubClassOf 'brain neoplasm' 'PHACE syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018718 'PHACE syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018729 'PHACE syndrome' SubClassOf 'Genetic neurovascular malformation' 'PHACE syndrome' SubClassOf 'Genetic syndrome with a cerebellar malformation as major feature' 'PHACE syndrome' SubClassOf 'Genetic skin tumor' 'PHACE syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018792 http://www.ebi.ac.uk/efo/EFO_0004530 triglyceride measurement 'triglyceride measurement' SubClassOf 'is_about' some 'triglyceride' 'triglyceride measurement' SubClassOf 'is_about' some 'lipid' http://www.ebi.ac.uk/efo/EFO_0004533 alkaline phosphatase measurement 'alkaline phosphatase measurement' SubClassOf 'is_about' some 'enzyme' 'alkaline phosphatase measurement' SubClassOf ('is_about' some 'Hypophosphatasia') or ('is_about' some 'Sarcoidosis') or ('is_about' some 'Wilson disease') 'alkaline phosphatase measurement' SubClassOf 'is_about' some 'liver' 'alkaline phosphatase measurement' SubClassOf 'is_about' some 'bone' 'alkaline phosphatase measurement' SubClassOf ('is_about' some 'leukemia') or ('is_about' some 'lymphoma') or ('is_about' some 'liver disease') or ('is_about' some 'bone disease') or ('is_about' some 'rickets') or ('is_about' some 'parathyroid disease') 'alkaline phosphatase measurement' SubClassOf 'is_about' some 'protein' http://www.ebi.ac.uk/efo/EFO_0004534 creatine kinase measurement 'creatine kinase measurement' SubClassOf 'is_about' some 'muscular disease' 'creatine kinase measurement' SubClassOf 'is_about' some 'enzyme' 'creatine kinase measurement' SubClassOf 'is_about' some 'protein' 'creatine kinase measurement' SubClassOf 'is_about' some 'kidney' 'creatine kinase measurement' SubClassOf ('is_about' some 'muscular disease') or ('is_about' some 'kidney disease') 'creatine kinase measurement' SubClassOf 'is_about' some 'cardiovascular system' http://www.ebi.ac.uk/efo/EFO_0004532 serum gamma-glutamyl transferase measurement 'serum gamma-glutamyl transferase measurement' SubClassOf ('is_about' some 'liver disease') or ('is_about' some 'alcohol dependence') 'serum gamma-glutamyl transferase measurement' SubClassOf 'is_about' some 'enzyme' 'serum gamma-glutamyl transferase measurement' SubClassOf 'is_about' some 'pancreactic component' 'serum gamma-glutamyl transferase measurement' SubClassOf 'is_about' some 'liver' 'serum gamma-glutamyl transferase measurement' SubClassOf 'is_about' some 'hepatobiliary system' http://www.ebi.ac.uk/efo/EFO_0004537 neonatal systemic lupus erthematosus 'neonatal systemic lupus erthematosus' SubClassOf 'systemic lupus erythematosus' 'neonatal systemic lupus erthematosus' SubClassOf 'systemic lupus erythematosus' http://www.ebi.ac.uk/efo/EFO_0004538 obsolete_bronchopulmonary dysplasia 'obsolete_bronchopulmonary dysplasia' SubClassOf 'obsolete class' 'obsolete_bronchopulmonary dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/GO_0030658 transport vesicle membrane 'transport vesicle membrane' SubClassOf 'part_of' some 'endomembrane system' 'transport vesicle membrane' SubClassOf 'part_of' some 'transport vesicle' http://www.ebi.ac.uk/efo/EFO_0004535 serum albumin measurement 'serum albumin measurement' SubClassOf 'is_about' some 'liver disease' 'serum albumin measurement' SubClassOf 'is_about' some 'serum albumin' http://purl.obolibrary.org/obo/GO_0030659 cytoplasmic vesicle membrane 'cytoplasmic vesicle membrane' SubClassOf 'part_of' some 'cytoplasmic membrane-bounded vesicle' http://www.ebi.ac.uk/efo/EFO_0004536 total blood protein measurement 'total blood protein measurement' SubClassOf 'is_about' some 'blood component' http://purl.obolibrary.org/obo/GO_0030662 coated vesicle membrane 'coated vesicle membrane' SubClassOf 'part_of' some 'coated vesicle' http://purl.obolibrary.org/obo/CL_0001063 neoplastic cell 'neoplastic cell' SubClassOf 'part_of' some 'neoplasm' http://www.ebi.ac.uk/efo/EFO_0005850 emphysema pattern measurement 'emphysema pattern measurement' SubClassOf 'is_about' some 'emphysema' http://www.ebi.ac.uk/efo/EFO_0004522 adhesion molecule measurement 'adhesion molecule measurement' EquivalentTo 'is_about' some 'adhesion factor' http://www.ebi.ac.uk/efo/EFO_0005854 allergic rhinitis 'allergic rhinitis' SubClassOf 'allergy' 'allergic rhinitis' SubClassOf 'rhinitis' 'allergic rhinitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000771 http://www.ebi.ac.uk/efo/EFO_0004523 obsolete_hemoglobin E disease 'obsolete_hemoglobin E disease' SubClassOf 'obsolete class' 'obsolete_hemoglobin E disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004520 ICAM-1 measurement 'ICAM-1 measurement' SubClassOf 'is_about' some 'cardiovascular disease' 'ICAM-1 measurement' SubClassOf 'is_about' some 'protein' 'ICAM-1 measurement' SubClassOf 'is_about' some 'adhesion factor' http://www.ebi.ac.uk/efo/EFO_0005852 Heschl's gyrus morphology measurement 'Heschl's gyrus morphology measurement' SubClassOf 'is_about' some 'brain' http://www.ebi.ac.uk/efo/EFO_0005857 mouse embryo stage 'mouse embryo stage' SubClassOf 'only_in_taxon' only 'Mus' http://www.ebi.ac.uk/efo/EFO_0004526 mean corpuscular volume 'mean corpuscular volume' SubClassOf 'is_about' some 'blood cell' 'mean corpuscular volume' SubClassOf ('is_about' some 'hemorrhage') or ('is_about' some 'vitamin B12 deficiency') or ('is_about' some 'anemia') 'mean corpuscular volume' SubClassOf 'is_about' only 'erythrocyte' http://www.orpha.net/ORDO/Orphanet_206428 Hypoxanthine-guanine phosphoribosyltransferase deficiency 'Hypoxanthine-guanine phosphoribosyltransferase deficiency' SubClassOf 'Disorder of purine metabolism' 'Hypoxanthine-guanine phosphoribosyltransferase deficiency' SubClassOf 'Syndromic neurometabolic disease with X-linked intellectual disability' 'Hypoxanthine-guanine phosphoribosyltransferase deficiency' SubClassOf 'Neurometabolic disease' 'Hypoxanthine-guanine phosphoribosyltransferase deficiency' SubClassOf 'Vitamin B12- and folate-independent constitutional megaloblastic anemia' 'Hypoxanthine-guanine phosphoribosyltransferase deficiency' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'Hypoxanthine-guanine phosphoribosyltransferase deficiency' SubClassOf 'Disorder of purine metabolism' 'Hypoxanthine-guanine phosphoribosyltransferase deficiency' SubClassOf 'Syndromic neurometabolic disease with X-linked intellectual disability' 'Hypoxanthine-guanine phosphoribosyltransferase deficiency' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'Hypoxanthine-guanine phosphoribosyltransferase deficiency' SubClassOf 'Vitamin B12- and folate-independent constitutional megaloblastic anemia' http://www.ebi.ac.uk/efo/EFO_0005858 C. elegans embryo stage 'C. elegans embryo stage' SubClassOf 'only_in_taxon' some 'Caenorhabditis elegans' http://www.ebi.ac.uk/efo/EFO_0004527 mean corpuscular hemoglobin 'mean corpuscular hemoglobin' SubClassOf ('is_about' some 'hemorrhage') or ('is_about' some 'vitamin B12 deficiency') or ('is_about' some 'anemia') 'mean corpuscular hemoglobin' SubClassOf 'is_about' some 'blood cell' http://www.ebi.ac.uk/efo/EFO_0005855 narcolepsy without cataplexy 'narcolepsy without cataplexy' SubClassOf 'Sleep Disorder' 'narcolepsy without cataplexy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021107 'narcolepsy with cataplexy' DisjointWith 'narcolepsy without cataplexy' 'narcolepsy without cataplexy' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'narcolepsy without cataplexy' SubClassOf 'has_disease_location' some 'brain' http://www.ebi.ac.uk/efo/EFO_0005856 arthritis 'arthritis' SubClassOf 'rheumatic disease' 'arthritis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021166 'arthritis' SubClassOf 'joint disease' 'arthritis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002614 'arthritis' SubClassOf 'rheumatic disease' http://www.ebi.ac.uk/efo/EFO_0004525 obsolete_bitter taste sensitivity 'obsolete_bitter taste sensitivity' SubClassOf 'obsolete class' 'obsolete_bitter taste sensitivity' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0005859 Drosophila embryo stage 'Drosophila embryo stage' SubClassOf 'only_in_taxon' only 'Drosophila' http://www.ebi.ac.uk/efo/EFO_0004528 mean corpuscular hemoglobin concentration 'mean corpuscular hemoglobin concentration' SubClassOf 'is_about' some 'blood cell' 'mean corpuscular hemoglobin concentration' SubClassOf ('is_about' some 'hemorrhage') or ('is_about' some 'vitamin B12 deficiency') or ('is_about' some 'anemia') http://www.ebi.ac.uk/efo/EFO_0004529 lipid measurement 'lipid measurement' EquivalentTo 'measurement' and ('is_about' some 'lipid') http://www.orpha.net/ORDO/Orphanet_206436 Infantile Krabbe disease 'Infantile Krabbe disease' SubClassOf 'Krabbe disease' 'Infantile Krabbe disease' SubClassOf 'Krabbe disease' http://www.ebi.ac.uk/efo/EFO_0005883 obsolete_atrial appendage 'obsolete_atrial appendage' SubClassOf 'obsolete class' 'obsolete_atrial appendage' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004550 amygdala reactivity measurement 'amygdala reactivity measurement' SubClassOf 'is_about' some 'mental or behavioural disorder' 'amygdala reactivity measurement' SubClassOf 'is_about' some 'amygdala' http://www.ebi.ac.uk/efo/EFO_0004555 glycoprotein measurement 'glycoprotein measurement' EquivalentTo 'is_about' some 'glycoprotein' http://www.ebi.ac.uk/efo/EFO_0004556 antibody measurement 'antibody measurement' EquivalentTo 'is_about' some 'antibody' http://www.ebi.ac.uk/efo/EFO_0005884 obsolete_right atrium 'obsolete_right atrium' SubClassOf 'obsolete class' 'obsolete_right atrium' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004554 genomic measurement 'genomic measurement' EquivalentTo 'is_about' some 'genome' http://www.ebi.ac.uk/efo/EFO_0005885 obsolete_left atrium 'obsolete_left atrium' SubClassOf 'obsolete class' 'obsolete_left atrium' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004557 population measurement 'population measurement' EquivalentTo 'is_about' some 'population' http://www.orpha.net/ORDO/Orphanet_206448 Adult Krabbe disease 'Adult Krabbe disease' SubClassOf 'Krabbe disease' 'Adult Krabbe disease' SubClassOf 'Krabbe disease' 'Adult Krabbe disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020143 http://www.ebi.ac.uk/efo/EFO_0004540 chronic fatigue syndrome 'chronic fatigue syndrome' SubClassOf 'muscular disease' 'chronic fatigue syndrome' SubClassOf 'immune system disease' 'chronic fatigue syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'chronic fatigue syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021094 'chronic fatigue syndrome' SubClassOf 'muscular disease' 'mental or behavioural disorder' DisjointWith 'chronic fatigue syndrome' 'chronic fatigue syndrome' SubClassOf 'has_disease_location' some 'skeletal muscle organ' 'chronic fatigue syndrome' SubClassOf 'has modifier' some 'chronic' http://www.ebi.ac.uk/efo/EFO_0004541 A1C measurement 'A1C measurement' SubClassOf 'measurement' and ('is_about' some 'diabetes mellitus') 'A1C measurement' SubClassOf 'is_about' some 'glucose' 'A1C measurement' SubClassOf 'is_about' some 'glycoprotein' http://www.orpha.net/ORDO/Orphanet_206443 Late-infantile/juvenile Krabbe disease 'Late-infantile/juvenile Krabbe disease' SubClassOf 'Krabbe disease' 'Late-infantile/juvenile Krabbe disease' SubClassOf 'Krabbe disease' http://www.ebi.ac.uk/efo/EFO_0005878 vitamin deficiency 'vitamin deficiency' SubClassOf 'participates_in' some (('vitamin metabolic process' and ('has component' some 'abnormal')) or ('vitamin transport' and ('has component' some 'abnormal'))) 'vitamin deficiency' SubClassOf ('has_participant' some ('chemical entity' and ('has_role' some 'vitamin'))) and ('participates_in' some ('homeostatic process' and ('has component' some 'abnormal'))) http://purl.obolibrary.org/obo/UBERON_0006222 presumptive diencephalon 'presumptive diencephalon' SubClassOf http://purl.obolibrary.org/obo/UBERON_0006598 http://www.orpha.net/ORDO/Orphanet_158300 Rare genetic hematologic disease 'Rare genetic hematologic disease' SubClassOf 'has_disease_location' some ('hematopoietic system' or ('part_of' some 'hematopoietic system')) http://purl.obolibrary.org/obo/CHEBI_9288 streptozotocin 'streptozotocin' SubClassOf 'has_role' some 'antineoplastic agent' http://www.orpha.net/ORDO/Orphanet_100986 Autosomal recessive spastic paraplegia type 5A 'Autosomal recessive spastic paraplegia type 5A' SubClassOf 'Pure or complex autosomal recessive spastic paraplegia' 'Autosomal recessive spastic paraplegia type 5A' SubClassOf 'Pure or complex autosomal recessive spastic paraplegia' http://www.ebi.ac.uk/efo/EFO_0004570 bilirubin measurement 'bilirubin measurement' SubClassOf 'is_about' some 'bilirubin' 'bilirubin measurement' SubClassOf 'is_about' some 'liver disease' http://www.orpha.net/ORDO/Orphanet_100985 Autosomal dominant spastic paraplegia type 4 'Autosomal dominant spastic paraplegia type 4' SubClassOf 'Pure or complex autosomal dominant spastic paraplegia' 'Autosomal dominant spastic paraplegia type 4' SubClassOf 'Pure or complex autosomal dominant spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_100988 Autosomal dominant spastic paraplegia type 6 'Autosomal dominant spastic paraplegia type 6' SubClassOf 'Pure or complex autosomal dominant spastic paraplegia' 'Autosomal dominant spastic paraplegia type 6' SubClassOf 'Pure or complex autosomal dominant spastic paraplegia' http://www.ebi.ac.uk/efo/EFO_0004573 chemerin measurement 'chemerin measurement' SubClassOf 'is_about' some 'hormone' 'chemerin measurement' SubClassOf 'is_about' some 'cardiovascular disease' http://www.orpha.net/ORDO/Orphanet_100982 Autosomal recessive pure spastic paraplegia 'Autosomal recessive pure spastic paraplegia' SubClassOf 'Pure hereditary spastic paraplegia' 'Autosomal recessive pure spastic paraplegia' SubClassOf 'Pure hereditary spastic paraplegia' 'Autosomal recessive pure spastic paraplegia' SubClassOf 'autosomal recessive disease' http://www.ebi.ac.uk/efo/EFO_0004574 total cholesterol measurement 'total cholesterol measurement' SubClassOf 'is_about' some 'cholesterol' http://www.orpha.net/ORDO/Orphanet_100981 Autosomal recessive complex spastic paraplegia 'Autosomal recessive complex spastic paraplegia' SubClassOf 'Complex hereditary spastic paraplegia' 'Autosomal recessive complex spastic paraplegia' SubClassOf 'autosomal recessive disease' 'Autosomal recessive complex spastic paraplegia' SubClassOf 'Complex hereditary spastic paraplegia' http://www.ebi.ac.uk/efo/EFO_0004571 butyrylcholinesterase measurement 'butyrylcholinesterase measurement' SubClassOf 'is_about' some 'liver' 'butyrylcholinesterase measurement' SubClassOf 'is_about' some 'protein' 'butyrylcholinesterase measurement' SubClassOf 'is_about' some 'enzyme' http://www.orpha.net/ORDO/Orphanet_100984 Autosomal dominant spastic paraplegia type 3 'Autosomal dominant spastic paraplegia type 3' SubClassOf 'Pure or complex autosomal dominant spastic paraplegia' 'Autosomal dominant spastic paraplegia type 3' SubClassOf 'Pure or complex autosomal dominant spastic paraplegia' http://www.ebi.ac.uk/efo/EFO_0004572 C4BP measurement 'C4BP measurement' SubClassOf 'is_about' some 'cardiovascular disease' 'C4BP measurement' SubClassOf 'is_about' some 'glycoprotein' http://purl.obolibrary.org/obo/CLO_0011436 GM09581 'GM09581' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM09581' SubClassOf 'has_quality' some 'female' 'GM09581' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0004578 homocysteine measurement 'homocysteine measurement' SubClassOf 'is_about' some 'cardiovascular system' 'homocysteine measurement' SubClassOf ('is_about' some 'cardiovascular disease') or ('is_about' some 'vitamin B12 deficiency') 'homocysteine measurement' SubClassOf 'is_about' some 'homocysteine' http://www.ebi.ac.uk/efo/EFO_0004575 e-selectin measurement 'e-selectin measurement' SubClassOf 'is_about' some 'protein' 'e-selectin measurement' SubClassOf 'is_about' some ('colorectal cancer' and ('has_role' some 'biomarker')) 'e-selectin measurement' SubClassOf 'is_about' some 'inflammatory response' 'e-selectin measurement' SubClassOf 'is_about' some 'adhesion factor' http://www.orpha.net/ORDO/Orphanet_100980 Autosomal dominant pure spastic paraplegia 'Autosomal dominant pure spastic paraplegia' SubClassOf 'Pure hereditary spastic paraplegia' 'Autosomal dominant pure spastic paraplegia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 'Autosomal dominant pure spastic paraplegia' SubClassOf 'Pure hereditary spastic paraplegia' http://www.ebi.ac.uk/efo/EFO_0004576 fetal hemoglobin measurement 'fetal hemoglobin measurement' SubClassOf 'is_about' some 'blood component' 'fetal hemoglobin measurement' SubClassOf ('is_about' some 'leukemia') or ('is_about' some 'anemia') or ('is_about' some 'Hemoglobinopathy') 'fetal hemoglobin measurement' SubClassOf 'is_about' some 'protein' http://www.ebi.ac.uk/efo/EFO_0004579 serum IgE measurement 'serum IgE measurement' SubClassOf 'is_about' some 'allergy' 'serum IgE measurement' SubClassOf 'is_about' some 'antibody' http://www.orpha.net/ORDO/Orphanet_100979 Autosomal dominant complex spastic paraplegia 'Autosomal dominant complex spastic paraplegia' SubClassOf 'Complex hereditary spastic paraplegia' 'Autosomal dominant complex spastic paraplegia' SubClassOf 'Complex hereditary spastic paraplegia' 'Autosomal dominant complex spastic paraplegia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 http://www.orpha.net/ORDO/Orphanet_100978 Cloverleaf skull - asphyxiating thoracic dysplasia 'Cloverleaf skull - asphyxiating thoracic dysplasia' SubClassOf 'Syndromic craniosynostosis' 'Cloverleaf skull - asphyxiating thoracic dysplasia' SubClassOf 'Syndromic craniosynostosis' http://www.orpha.net/ORDO/Orphanet_100997 X-linked spastic paraplegia type 16 'X-linked spastic paraplegia type 16' SubClassOf 'Pure or complex X-linked spastic paraplegia' 'X-linked spastic paraplegia type 16' SubClassOf 'Pure or complex X-linked spastic paraplegia' http://www.ebi.ac.uk/efo/EFO_0005890 osteoarthritis biomarker measurement 'osteoarthritis biomarker measurement' EquivalentTo 'measurement' and ('is_about' some ('osteoarthritis' and ('has_role' some 'biomarker'))) http://www.orpha.net/ORDO/Orphanet_100996 Autosomal recessive spastic paraplegia type 15 'Autosomal recessive spastic paraplegia type 15' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Autosomal recessive spastic paraplegia type 15' SubClassOf 'Autosomal recessive complex spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_100999 Autosomal dominant spastic paraplegia type 19 'Autosomal dominant spastic paraplegia type 19' SubClassOf 'Autosomal dominant pure spastic paraplegia' 'Autosomal dominant spastic paraplegia type 19' SubClassOf 'Autosomal dominant pure spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_100998 Autosomal dominant spastic paraplegia type 17 'Autosomal dominant spastic paraplegia type 17' SubClassOf 'Autosomal dominant distal hereditary motor neuropathy' 'Autosomal dominant spastic paraplegia type 17' SubClassOf 'Autosomal dominant complex spastic paraplegia' 'Autosomal dominant spastic paraplegia type 17' SubClassOf 'Autosomal dominant distal hereditary motor neuropathy' 'Autosomal dominant spastic paraplegia type 17' SubClassOf 'Autosomal dominant complex spastic paraplegia' http://www.ebi.ac.uk/efo/EFO_0004562 cryptorchidism 'cryptorchidism' SubClassOf 'male reproductive system disease' 'cryptorchidism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000839 'cryptorchidism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003847 'cryptorchidism' SubClassOf 'has_disease_location' some 'male reproductive system' 'cryptorchidism' SubClassOf 'male reproductive system disease' http://www.orpha.net/ORDO/Orphanet_100993 Autosomal dominant spastic paraplegia type 12 'Autosomal dominant spastic paraplegia type 12' SubClassOf 'Autosomal dominant pure spastic paraplegia' 'Autosomal dominant spastic paraplegia type 12' SubClassOf 'Autosomal dominant pure spastic paraplegia' http://www.ebi.ac.uk/efo/EFO_0005891 obsolete_renal cortex 'obsolete_renal cortex' SubClassOf 'obsolete class' 'obsolete_renal cortex' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_100995 Autosomal recessive spastic paraplegia type 14 'Autosomal recessive spastic paraplegia type 14' SubClassOf 'Pure or complex autosomal recessive spastic paraplegia' 'Autosomal recessive spastic paraplegia type 14' SubClassOf 'Pure or complex autosomal recessive spastic paraplegia' http://www.ebi.ac.uk/efo/EFO_0004561 obsolete_African 'obsolete_African' SubClassOf 'obsolete class' 'obsolete_African' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_100994 Autosomal dominant spastic paraplegia type 13 'Autosomal dominant spastic paraplegia type 13' SubClassOf 'Pure or complex autosomal dominant spastic paraplegia' 'Autosomal dominant spastic paraplegia type 13' SubClassOf 'Pure or complex autosomal dominant spastic paraplegia' http://www.ebi.ac.uk/efo/EFO_0003234 follicle stimulating hormone 'follicle stimulating hormone' SubClassOf 'has_role' some 'hormone role' http://www.ebi.ac.uk/efo/EFO_0003233 erythropoietin 'erythropoietin' SubClassOf 'has_role' some 'hormone role' http://www.ebi.ac.uk/efo/EFO_0003236 thrombopoietin 'thrombopoietin' SubClassOf 'has_role' some 'hormone role' http://www.ebi.ac.uk/efo/EFO_0004564 obsolete_pericardial fat 'obsolete_pericardial fat' SubClassOf 'obsolete class' 'obsolete_pericardial fat' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0005895 ossification of the posterior longitudinal ligament of the spine 'ossification of the posterior longitudinal ligament of the spine' SubClassOf 'skeletal system disease' 'ossification of the posterior longitudinal ligament of the spine' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 'ossification of the posterior longitudinal ligament of the spine' SubClassOf 'skeletal system disease' http://www.orpha.net/ORDO/Orphanet_100991 Autosomal dominant spastic paraplegia type 10 'Autosomal dominant spastic paraplegia type 10' SubClassOf 'Pure or complex autosomal dominant spastic paraplegia' 'Autosomal dominant spastic paraplegia type 10' SubClassOf 'Pure or complex autosomal dominant spastic paraplegia' http://www.ebi.ac.uk/efo/EFO_0004565 serum IgG measurement 'serum IgG measurement' SubClassOf 'is_about' some 'antibody' 'serum IgG measurement' SubClassOf 'is_about' some 'Common variable immunodeficiency' http://www.ebi.ac.uk/efo/EFO_0005896 obsolete_gastroesophageal junction 'obsolete_gastroesophageal junction' SubClassOf 'obsolete class' 'obsolete_gastroesophageal junction' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_100990 Autosomal dominant spastic paraplegia type 9 'Autosomal dominant spastic paraplegia type 9' SubClassOf 'Autosomal dominant complex spastic paraplegia' 'Autosomal dominant spastic paraplegia type 9' SubClassOf 'Autosomal dominant complex spastic paraplegia' http://www.ebi.ac.uk/efo/EFO_0004568 serum non-albumin protein measurement 'serum non-albumin protein measurement' SubClassOf 'is_about' some 'protein' http://www.ebi.ac.uk/efo/EFO_0004569 brain serotonin transporter measurement 'brain serotonin transporter measurement' SubClassOf 'is_about' some 'serotonin' 'brain serotonin transporter measurement' SubClassOf 'is_about' some 'mental or behavioural disorder' 'brain serotonin transporter measurement' SubClassOf 'is_about' some 'central nervous system' http://purl.obolibrary.org/obo/CLO_0011438 GM09579 'GM09579' SubClassOf 'cultured cell' 'GM09579' SubClassOf 'has_quality' some 'female' 'GM09579' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://www.orpha.net/ORDO/Orphanet_100989 Autosomal dominant spastic paraplegia type 8 'Autosomal dominant spastic paraplegia type 8' SubClassOf 'Autosomal dominant pure spastic paraplegia' 'Autosomal dominant spastic paraplegia type 8' SubClassOf 'Autosomal dominant pure spastic paraplegia' http://purl.obolibrary.org/obo/CHEBI_64395 1-arachidonoyl-sn-glycero-3-phosphoethanolamine '1-arachidonoyl-sn-glycero-3-phosphoethanolamine' SubClassOf 'phospholipid' '1-arachidonoyl-sn-glycero-3-phosphoethanolamine' SubClassOf 'phospholipid' http://www.ebi.ac.uk/efo/EFO_0004591 childhood onset asthma 'childhood onset asthma' SubClassOf 'asthma' 'childhood onset asthma' SubClassOf 'asthma' http://www.ebi.ac.uk/efo/EFO_0004592 obsolete_thyroid stimulating hormone measurement 'obsolete_thyroid stimulating hormone measurement' SubClassOf 'obsolete class' 'obsolete_thyroid stimulating hormone measurement' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004590 obsolete_aspirin induced asthma 'obsolete_aspirin induced asthma' SubClassOf 'obsolete class' 'obsolete_aspirin induced asthma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004596 diabetes mellitus type 2 associated cataract 'diabetes mellitus type 2 associated cataract' SubClassOf 'cataract' 'diabetes mellitus type 2 associated cataract' EquivalentTo 'cataract' and (http://purl.obolibrary.org/obo/RO_0004022 some 'type II diabetes mellitus') 'diabetes mellitus type 2 associated cataract' SubClassOf 'cataract' 'diabetes mellitus type 2 associated cataract' SubClassOf 'has_disease_location' some 'eye' 'diabetes mellitus type 2 associated cataract' SubClassOf http://purl.obolibrary.org/obo/RO_0004022 some 'type II diabetes mellitus' http://www.ebi.ac.uk/efo/EFO_0004593 gestational diabetes 'gestational diabetes' SubClassOf 'diabetes mellitus' 'gestational diabetes' EquivalentTo 'diabetes mellitus' and 'pregnancy disorder' 'gestational diabetes' SubClassOf 'pregnancy disorder' 'gestational diabetes' SubClassOf 'diabetes mellitus' http://www.ebi.ac.uk/efo/EFO_0004594 childhood eosinophilic esophagitis 'childhood eosinophilic esophagitis' SubClassOf 'eosinophilic esophagitis' 'childhood eosinophilic esophagitis' SubClassOf 'eosinophilic esophagitis' http://www.ebi.ac.uk/efo/EFO_0004599 acute graft vs. host disease 'acute graft vs. host disease' SubClassOf 'immune system disease' 'acute graft vs. host disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0013730 http://www.ebi.ac.uk/efo/EFO_0004597 variant Creutzfeld Jacob disease 'variant Creutzfeld Jacob disease' SubClassOf 'Creutzfeldt Jacob Disease' 'variant Creutzfeld Jacob disease' SubClassOf 'has_disease_location' some 'nervous system' 'variant Creutzfeld Jacob disease' SubClassOf 'Creutzfeldt Jacob Disease' http://purl.obolibrary.org/obo/CHEBI_63060 phase-transfer catalyst role 'phase-transfer catalyst role' SubClassOf 'inheres_in' some 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_64390 N-hexanoylglycine 'N-hexanoylglycine' SubClassOf 'chemical entity' 'N-hexanoylglycine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_51086 chemical role 'chemical role' EquivalentTo 'inheres_in' some 'chemical entity' http://purl.obolibrary.org/obo/UBERON_2000940 posterior lateral line neuromast 'posterior lateral line neuromast' SubClassOf 'zebrafish component' 'posterior lateral line neuromast' SubClassOf 'neuromast' http://www.ebi.ac.uk/efo/EFO_0004581 interleukin 18 measurement 'interleukin 18 measurement' SubClassOf 'is_about' some 'inflammatory response' 'interleukin 18 measurement' SubClassOf 'is_about' some 'interleukin 18 (Homo sapiens)' http://www.orpha.net/ORDO/Orphanet_100974 FRAXF syndrome 'FRAXF syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003847 'FRAXF syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 http://purl.obolibrary.org/obo/BTO_0001130 prostate gland cancer cell 'prostate gland cancer cell' SubClassOf 'bearer_of' some 'prostate carcinoma' http://www.orpha.net/ORDO/Orphanet_100976 Bathing suit ichthyosis 'Bathing suit ichthyosis' SubClassOf 'Autosomal recessive congenital ichthyosis' 'Bathing suit ichthyosis' SubClassOf 'Autosomal recessive congenital ichthyosis' http://www.ebi.ac.uk/efo/EFO_0004584 mean platelet volume 'mean platelet volume' SubClassOf 'is_about' some 'blood component' 'mean platelet volume' SubClassOf 'is_about' some 'platelet' 'mean platelet volume' SubClassOf 'is_about' some ('inflammatory bowel disease' and ('has_role' some 'biomarker')) http://www.ebi.ac.uk/efo/EFO_0004582 liver enzyme measurement 'liver enzyme measurement' EquivalentTo 'measurement' and ('is_about' some 'enzyme') and ('is_about' some 'liver') http://www.orpha.net/ORDO/Orphanet_100973 FRAXE intellectual disability 'FRAXE intellectual disability' SubClassOf 'X-linked syndromic intellectual disability' 'FRAXE intellectual disability' SubClassOf 'X-linked syndromic intellectual disability' http://www.ebi.ac.uk/efo/EFO_0004583 obsolete_alanine transaminase measurement 'obsolete_alanine transaminase measurement' SubClassOf 'obsolete class' 'obsolete_alanine transaminase measurement' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004588 obsolete_gamma glutamyl transpeptidase measurement 'obsolete_gamma glutamyl transpeptidase measurement' SubClassOf 'obsolete class' 'obsolete_gamma glutamyl transpeptidase measurement' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004589 brachial circumference 'brachial circumference' SubClassOf 'measurement' and ('is_about' some 'musculature') http://www.ebi.ac.uk/efo/EFO_0004586 complete blood cell count 'complete blood cell count' SubClassOf 'is_about' some 'blood component' http://www.ebi.ac.uk/efo/EFO_0004587 lymphocyte count 'lymphocyte count' SubClassOf 'is_about' some 'lymphocyte' 'lymphocyte count' SubClassOf 'is_about' some 'blood cell' 'lymphocyte count' SubClassOf 'is_about' some 'multiple myeloma' 'lymphocyte count' SubClassOf 'is_about' some 'infectious disease' http://purl.obolibrary.org/obo/GO_0052047 interaction with other organism via secreted substance involved in symbiotic interaction 'interaction with other organism via secreted substance involved in symbiotic interaction' SubClassOf 'part_of' some 'symbiosis, encompassing mutualism through parasitism' http://www.orpha.net/ORDO/Orphanet_294990 Congenital absence/hypoplasia of fingers excluding thumb 'Congenital absence/hypoplasia of fingers excluding thumb' SubClassOf 'Adactyly of hand' 'Congenital absence/hypoplasia of fingers excluding thumb' SubClassOf 'Adactyly of hand' http://www.orpha.net/ORDO/Orphanet_294994 Split foot 'Split foot' SubClassOf 'Split hand or/and split foot malformation' 'Split foot' SubClassOf 'Split hand or/and split foot malformation' http://www.orpha.net/ORDO/Orphanet_294992 Split hand 'Split hand' SubClassOf 'Split hand or/and split foot malformation' 'Split hand' SubClassOf 'Split hand or/and split foot malformation' http://www.orpha.net/ORDO/Orphanet_294988 Congenital absence/hypoplasia of thumb 'Congenital absence/hypoplasia of thumb' SubClassOf 'Adactyly of hand' 'Congenital absence/hypoplasia of thumb' SubClassOf 'Adactyly of hand' http://www.orpha.net/ORDO/Orphanet_294986 Apodia 'Apodia' SubClassOf 'Terminal limb defects' 'Apodia' SubClassOf 'Terminal limb defects' http://purl.obolibrary.org/obo/CHEBI_63038 ammonium nitrate 'ammonium nitrate' SubClassOf 'has_role' some 'fertilizer' 'ammonium nitrate' SubClassOf 'has_role' some 'explosive role' http://purl.obolibrary.org/obo/CHEBI_63039 caesium chloride 'caesium chloride' SubClassOf 'has_role' some 'vasoconstrictor agent' 'caesium chloride' SubClassOf 'has_role' some 'phase-transfer catalyst role' http://purl.obolibrary.org/obo/CLO_0022132 AG13066 'AG13066' SubClassOf 'derives_from' some ('fibroblast' and ('part_of' some ('arm' and ('part_of' some 'Homo sapiens')))) 'AG13066' SubClassOf 'has_quality' some 'female' 'AG13066' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0003271 tumor necrosis factor-alpha 'tumor necrosis factor-alpha' SubClassOf 'has_role' some 'cytokine role' http://www.orpha.net/ORDO/Orphanet_294998 Brachydactyly of toes 'Brachydactyly of toes' SubClassOf 'Brachydactyly' 'Brachydactyly of toes' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044989 'Brachydactyly of toes' SubClassOf 'Brachydactyly' http://www.orpha.net/ORDO/Orphanet_294996 Brachydactyly of fingers 'Brachydactyly of fingers' SubClassOf 'Brachydactyly' 'Brachydactyly of fingers' SubClassOf 'Brachydactyly' 'Brachydactyly of fingers' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044990 http://purl.obolibrary.org/obo/CHEBI_51057 3-phenylpropionate '3-phenylpropionate' SubClassOf 'chemical entity' '3-phenylpropionate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/HP_0010841 Multifocal epileptiform discharges 'Multifocal epileptiform discharges' SubClassOf 'EEG abnormality' 'Multifocal epileptiform discharges' SubClassOf 'EEG abnormality' http://www.orpha.net/ORDO/Orphanet_280365 Autosomal codominant severe lipodystrophic laminopathy 'Autosomal codominant severe lipodystrophic laminopathy' SubClassOf 'Familial partial lipodystrophy' 'Autosomal codominant severe lipodystrophic laminopathy' SubClassOf 'Rare insulin-resistance syndrome' 'Autosomal codominant severe lipodystrophic laminopathy' SubClassOf 'Familial partial lipodystrophy' 'Autosomal codominant severe lipodystrophic laminopathy' SubClassOf 'Rare insulin-resistance syndrome' http://purl.obolibrary.org/obo/CLO_0022107 AG13145 'AG13145' SubClassOf 'derives_from' some ('fibroblast' and ('part_of' some ('arm' and ('part_of' some 'Homo sapiens')))) 'AG13145' SubClassOf 'cultured cell' 'AG13145' SubClassOf 'has_quality' some 'male' http://www.ebi.ac.uk/efo/EFO_0003292 interleukin-2 (Mus musculus) 'interleukin-2 (Mus musculus)' SubClassOf 'derives_from' some 'Mus musculus' http://www.orpha.net/ORDO/Orphanet_280379 Erythropoietic uroporphyria associated with myeloid malignancy 'Erythropoietic uroporphyria associated with myeloid malignancy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019142 http://www.ebi.ac.uk/efo/EFO_0003294 listeriolysin 'listeriolysin' SubClassOf 'has_role' some 'toxin' http://www.ebi.ac.uk/efo/EFO_0003296 interleukin-4 (Homo sapiens) 'interleukin-4 (Homo sapiens)' SubClassOf 'derives_from' some 'Homo sapiens' http://purl.obolibrary.org/obo/UBERON_2000975 somite 13 'somite 13' SubClassOf http://purl.obolibrary.org/obo/UBERON_0002329 http://purl.obolibrary.org/obo/HP_0010863 Receptive language delay 'Receptive language delay' SubClassOf 'abnormality of the nervous system' 'Receptive language delay' SubClassOf 'abnormality of the nervous system' http://purl.obolibrary.org/obo/HP_0010864 Intellectual disability, severe 'Intellectual disability, severe' SubClassOf 'Intellectual disability' 'Intellectual disability, severe' SubClassOf 'Intellectual disability' http://purl.obolibrary.org/obo/CLO_0022101 AG13150 'AG13150' SubClassOf 'derives_from' some ('fibroblast' and ('part_of' some ('arm' and ('part_of' some 'Homo sapiens')))) 'AG13150' SubClassOf 'cultured cell' 'AG13150' SubClassOf 'has_quality' some 'female' http://www.orpha.net/ORDO/Orphanet_280384 Recessive intellectual disability - motor dysfunction - multiple joint contractures 'Recessive intellectual disability - motor dysfunction - multiple joint contractures' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Recessive intellectual disability - motor dysfunction - multiple joint contractures' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://purl.obolibrary.org/obo/CHEBI_64212 sulindac sulfone 'sulindac sulfone' SubClassOf ('has_role' some 'non-steroidal anti-inflammatory drug') or ('has_role' some 'cyclooxygenase inhibitor') http://purl.obolibrary.org/obo/CHEBI_64213 cantharidin 'cantharidin' SubClassOf 'has_role' some 'agrochemical role' http://purl.obolibrary.org/obo/PO_0025501 fruit formation stage 'fruit formation stage' SubClassOf 'fruit development stage' 'fruit formation stage' SubClassOf 'fruit development stage' http://purl.obolibrary.org/obo/CHEBI_64210 4-\{[(5,5,8,8-tetramethyl-5,6,7,8-tetrahydronaphthalen-2-yl)carbonyl]amino\}benzoic acid '4-\{[(5,5,8,8-tetramethyl-5,6,7,8-tetrahydronaphthalen-2-yl)carbonyl]amino\}benzoic acid' SubClassOf 'has_role' some 'xenobiotic' http://purl.obolibrary.org/obo/PO_0025504 fruit size up to 10% stage 'fruit size up to 10% stage' SubClassOf 'fruit formation stage' 'fruit size up to 10% stage' SubClassOf 'fruit formation stage' http://purl.obolibrary.org/obo/PO_0025506 fruit size 30 to 50% stage 'fruit size 30 to 50% stage' SubClassOf 'fruit formation stage' 'fruit size 30 to 50% stage' SubClassOf 'fruit formation stage' http://purl.obolibrary.org/obo/PO_0025508 fruit size 70% to final size stage 'fruit size 70% to final size stage' SubClassOf 'fruit formation stage' 'fruit size 70% to final size stage' SubClassOf 'fruit formation stage' http://purl.obolibrary.org/obo/PO_0025507 fruit size 50 to 70% stage 'fruit size 50 to 70% stage' SubClassOf 'fruit formation stage' 'fruit size 50 to 70% stage' SubClassOf 'fruit formation stage' http://www.orpha.net/ORDO/Orphanet_294951 Congenital joint dislocations 'Congenital joint dislocations' SubClassOf 'Non-syndromic limb malformation' 'Congenital joint dislocations' SubClassOf 'Non-syndromic limb malformation' http://www.orpha.net/ORDO/Orphanet_294944 Congenital deformities of limbs 'Congenital deformities of limbs' SubClassOf 'Non-syndromic limb malformation' 'Congenital deformities of limbs' SubClassOf 'Non-syndromic limb malformation' http://www.orpha.net/ORDO/Orphanet_294942 Postaxial polydactyly of fingers 'Postaxial polydactyly of fingers' SubClassOf 'Polydactyly' 'Postaxial polydactyly of fingers' SubClassOf 'Polydactyly' http://www.orpha.net/ORDO/Orphanet_294947 Congenital deformities of fingers 'Congenital deformities of fingers' SubClassOf 'Congenital deformities of limbs' 'Congenital deformities of fingers' SubClassOf 'Congenital deformities of limbs' http://purl.obolibrary.org/obo/NCBITaxon_31741 Wheat streak mosaic virus 'Wheat streak mosaic virus' SubClassOf 'Virus' 'Wheat streak mosaic virus' SubClassOf 'Virus' http://www.orpha.net/ORDO/Orphanet_294949 Joint formation defects 'Joint formation defects' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' 'Joint formation defects' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' http://purl.obolibrary.org/obo/CHEBI_64207 spiramide 'spiramide' EquivalentTo 'has_role' some 'serotonergic antagonist' 'spiramide' SubClassOf 'has_role' some 'dopaminergic antagonist' http://www.orpha.net/ORDO/Orphanet_329903 Immunoglobulin-mediated membranoproliferative glomerulonephritis 'Immunoglobulin-mediated membranoproliferative glomerulonephritis' SubClassOf 'Primary membranoproliferative glomerulonephritis' 'Immunoglobulin-mediated membranoproliferative glomerulonephritis' SubClassOf 'Primary membranoproliferative glomerulonephritis' 'Immunoglobulin-mediated membranoproliferative glomerulonephritis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003689 'Immunoglobulin-mediated membranoproliferative glomerulonephritis' SubClassOf 'Atypical hemolytic-uremic syndrome' 'Immunoglobulin-mediated membranoproliferative glomerulonephritis' SubClassOf 'hereditary nephritis' 'Immunoglobulin-mediated membranoproliferative glomerulonephritis' SubClassOf 'Inborn errors of metabolism' 'Immunoglobulin-mediated membranoproliferative glomerulonephritis' SubClassOf 'Rare genetic coagulation disorder' 'Immunoglobulin-mediated membranoproliferative glomerulonephritis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002350 http://purl.obolibrary.org/obo/CHEBI_64208 (2Z,3Z)-bis\{amino[(2-aminophenyl)sulfanyl]methylidene\}butanedinitrile '(2Z,3Z)-bis\{amino[(2-aminophenyl)sulfanyl]methylidene\}butanedinitrile' SubClassOf 'has_role' some 'antineoplastic agent' http://www.ebi.ac.uk/efo/EFO_0003199 leptin 'leptin' SubClassOf 'has_role' some 'hormone role' http://www.orpha.net/ORDO/Orphanet_293621 X-linked endothelial corneal dystrophy 'X-linked endothelial corneal dystrophy' SubClassOf 'Posterior corneal dystrophy' 'X-linked endothelial corneal dystrophy' SubClassOf 'Posterior corneal dystrophy' 'X-linked endothelial corneal dystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000766 http://www.orpha.net/ORDO/Orphanet_294953 Limb overgrowth 'Limb overgrowth' SubClassOf 'Non-syndromic limb malformation' 'Limb overgrowth' SubClassOf 'Non-syndromic limb malformation' http://www.orpha.net/ORDO/Orphanet_294959 Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' SubClassOf 'Genetic syndrome with limb malformations as a major feature' 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' SubClassOf 'Genetic syndrome with limb malformations as a major feature' http://www.orpha.net/ORDO/Orphanet_294957 Dysostosis with combined reduction defects of upper and lower limbs 'Dysostosis with combined reduction defects of upper and lower limbs' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' 'Dysostosis with combined reduction defects of upper and lower limbs' SubClassOf 'Genetic syndrome with limb malformations as a major feature' 'Dysostosis with combined reduction defects of upper and lower limbs' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' 'Dysostosis with combined reduction defects of upper and lower limbs' SubClassOf 'Genetic syndrome with limb malformations as a major feature' http://www.orpha.net/ORDO/Orphanet_280325 Distal monosomy 12p 'Distal monosomy 12p' SubClassOf 'Partial deletion of the short arm of chromosome 12' 'Distal monosomy 12p' SubClassOf 'Partial deletion of the short arm of chromosome 12' http://purl.obolibrary.org/obo/PO_0025522 tuber 'tuber' SubClassOf 'plant anatomical entity' 'tuber' SubClassOf 'plant anatomical entity' http://purl.obolibrary.org/obo/PO_0000229 flower meristem 'flower meristem' SubClassOf 'shoot apical meristem' 'flower meristem' SubClassOf 'shoot apical meristem' http://www.orpha.net/ORDO/Orphanet_231393 Beta-thalassemia - X-linked thrombocytopenia 'Beta-thalassemia - X-linked thrombocytopenia' SubClassOf 'Beta-thalassemia with other manifestations' 'Beta-thalassemia - X-linked thrombocytopenia' SubClassOf 'Beta-thalassemia with other manifestations' http://www.orpha.net/ORDO/Orphanet_217093 Mucopolysaccharidosis type 2, attenuated form 'Mucopolysaccharidosis type 2, attenuated form' SubClassOf 'Mucopolysaccharidosis type 2' 'Mucopolysaccharidosis type 2, attenuated form' SubClassOf 'Mucopolysaccharidosis type 2' http://www.orpha.net/ORDO/Orphanet_294973 Humeral agenesis/hypoplasia 'Humeral agenesis/hypoplasia' SubClassOf 'Non-syndromic limb reduction defect' 'Humeral agenesis/hypoplasia' SubClassOf 'Non-syndromic limb reduction defect' http://www.orpha.net/ORDO/Orphanet_293642 Blepharophimosis-intellectual disability syndrome 'Blepharophimosis-intellectual disability syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Blepharophimosis-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Blepharophimosis-intellectual disability syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Blepharophimosis-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 http://www.orpha.net/ORDO/Orphanet_294971 Tetra-amelia 'Tetra-amelia' SubClassOf 'Amelia' 'Tetra-amelia' SubClassOf 'Amelia' http://www.orpha.net/ORDO/Orphanet_294965 Lethal congenital contracture syndrome 'Lethal congenital contracture syndrome' SubClassOf 'Arthrogryposis syndrome' 'Lethal congenital contracture syndrome' SubClassOf 'Arthrogryposis syndrome' http://www.orpha.net/ORDO/Orphanet_294963 Popliteal pterygium syndrome 'Popliteal pterygium syndrome' SubClassOf 'Syndrome or malformation associated with head and neck malformations' 'Popliteal pterygium syndrome' SubClassOf 'Arthrogryposis syndrome' 'Popliteal pterygium syndrome' SubClassOf 'Syndrome or malformation associated with head and neck malformations' 'Popliteal pterygium syndrome' SubClassOf 'Arthrogryposis syndrome' http://www.orpha.net/ORDO/Orphanet_293633 PYCR1-related De Barsy syndrome 'PYCR1-related De Barsy syndrome' SubClassOf 'De Barsy syndrome' 'PYCR1-related De Barsy syndrome' SubClassOf 'De Barsy syndrome' http://www.orpha.net/ORDO/Orphanet_243343 Dimethylglycine dehydrogenase deficiency 'Dimethylglycine dehydrogenase deficiency' SubClassOf 'Disorder of serine or glycine metabolism' 'Dimethylglycine dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044976 'Dimethylglycine dehydrogenase deficiency' SubClassOf 'Disorder of serine or glycine metabolism' http://www.orpha.net/ORDO/Orphanet_294969 Amelia of lower limb 'Amelia of lower limb' SubClassOf 'Amelia' 'Amelia of lower limb' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044967 'Amelia of lower limb' SubClassOf 'Amelia' http://www.orpha.net/ORDO/Orphanet_294967 Amelia of upper limb 'Amelia of upper limb' SubClassOf 'Amelia' 'Amelia of upper limb' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044967 'Amelia of upper limb' SubClassOf 'Amelia' http://purl.obolibrary.org/obo/PO_0000230 inflorescence meristem 'inflorescence meristem' SubClassOf 'inflorescence' 'inflorescence meristem' SubClassOf 'inflorescence' http://www.orpha.net/ORDO/Orphanet_280333 Autosomal recessive limb-girdle muscular dystrophy type 2P 'Autosomal recessive limb-girdle muscular dystrophy type 2P' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' 'Autosomal recessive limb-girdle muscular dystrophy type 2P' SubClassOf 'Primary qualitative or quantitative defects of alpha-dystroglycan' 'Autosomal recessive limb-girdle muscular dystrophy type 2P' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'Autosomal recessive limb-girdle muscular dystrophy type 2P' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000173 'Autosomal recessive limb-girdle muscular dystrophy type 2P' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' 'Autosomal recessive limb-girdle muscular dystrophy type 2P' SubClassOf 'Primary qualitative or quantitative defects of alpha-dystroglycan' 'Autosomal recessive limb-girdle muscular dystrophy type 2P' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' http://www.orpha.net/ORDO/Orphanet_231386 Beta-thalassemia with other manifestations 'Beta-thalassemia with other manifestations' SubClassOf 'Beta-thalassemia and related diseases' 'Beta-thalassemia with other manifestations' SubClassOf 'Beta-thalassemia and related diseases' http://www.orpha.net/ORDO/Orphanet_294983 Acheiria 'Acheiria' SubClassOf 'Terminal limb defects' 'Acheiria' SubClassOf 'Terminal limb defects' http://www.orpha.net/ORDO/Orphanet_217085 Mucopolysaccharidosis type 2, severe form 'Mucopolysaccharidosis type 2, severe form' SubClassOf 'Mucopolysaccharidosis type 2' 'Mucopolysaccharidosis type 2, severe form' SubClassOf 'Mucopolysaccharidosis type 2' http://www.orpha.net/ORDO/Orphanet_294981 Congenital absence of both lower leg and foot 'Congenital absence of both lower leg and foot' SubClassOf 'Terminal limb defects' 'Congenital absence of both lower leg and foot' SubClassOf 'Terminal limb defects' http://www.orpha.net/ORDO/Orphanet_294977 Congenital absence of thigh and lower leg with foot present 'Congenital absence of thigh and lower leg with foot present' SubClassOf 'Intercalary limb defects' 'Congenital absence of thigh and lower leg with foot present' SubClassOf 'Intercalary limb defects' http://purl.obolibrary.org/obo/CHEBI_78894 docosadienoate 'docosadienoate' SubClassOf 'lipid' 'docosadienoate' SubClassOf 'lipid' http://www.orpha.net/ORDO/Orphanet_294975 Congenital absence of upper arm and forearm with hand present 'Congenital absence of upper arm and forearm with hand present' SubClassOf 'Intercalary limb defects' 'Congenital absence of upper arm and forearm with hand present' SubClassOf 'Intercalary limb defects' http://www.orpha.net/ORDO/Orphanet_77298 Anophthalmia/microphthalmia - esophageal atresia 'Anophthalmia/microphthalmia - esophageal atresia' SubClassOf 'Disease associated with non-acquired combined pituitary hormone deficiency' 'Anophthalmia/microphthalmia - esophageal atresia' SubClassOf 'Genetic syndromic esophageal malformation' 'Anophthalmia/microphthalmia - esophageal atresia' SubClassOf 'Syndromic microphthalmia' 'Anophthalmia/microphthalmia - esophageal atresia' SubClassOf 'Disease associated with non-acquired combined pituitary hormone deficiency' 'Anophthalmia/microphthalmia - esophageal atresia' SubClassOf 'Genetic syndromic esophageal malformation' 'Anophthalmia/microphthalmia - esophageal atresia' SubClassOf 'Syndromic microphthalmia' 'Anophthalmia/microphthalmia - esophageal atresia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007 http://purl.obolibrary.org/obo/CHEBI_27266 valine 'valine' SubClassOf 'amino acid' 'valine' SubClassOf 'amino acid' http://purl.obolibrary.org/obo/CHEBI_76233 2-linoleoyl-sn-glycero-3-phosphoethanolamine '2-linoleoyl-sn-glycero-3-phosphoethanolamine' SubClassOf 'phospholipid' '2-linoleoyl-sn-glycero-3-phosphoethanolamine' SubClassOf 'phospholipid' http://www.orpha.net/ORDO/Orphanet_77299 Microphthalmia - brain atrophy 'Microphthalmia - brain atrophy' SubClassOf 'Syndromic microphthalmia' 'Microphthalmia - brain atrophy' SubClassOf 'Genetic neurodegenerative disease' 'Microphthalmia - brain atrophy' SubClassOf 'has_disease_location' some 'brainstem' 'Microphthalmia - brain atrophy' SubClassOf 'Syndromic microphthalmia' 'Microphthalmia - brain atrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Microphthalmia - brain atrophy' SubClassOf 'has_disease_location' some 'frontal cortex' 'Microphthalmia - brain atrophy' SubClassOf 'has_disease_location' some 'cerebellum' 'Microphthalmia - brain atrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004884 'Microphthalmia - brain atrophy' SubClassOf 'has_disease_location' some 'corpus callosum' 'Microphthalmia - brain atrophy' SubClassOf 'Genetic neurodegenerative disease' http://purl.obolibrary.org/obo/CHEBI_78895 docosatrienoate 'docosatrienoate' SubClassOf 'lipid' 'docosatrienoate' SubClassOf 'lipid' http://www.orpha.net/ORDO/Orphanet_294979 Congenital absence of both forearm and hand 'Congenital absence of both forearm and hand' SubClassOf 'Terminal limb defects' 'Congenital absence of both forearm and hand' SubClassOf 'Terminal limb defects' http://www.orpha.net/ORDO/Orphanet_77295 Odontoleukodystrophy 'Odontoleukodystrophy' SubClassOf 'Hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism' 'Odontoleukodystrophy' SubClassOf 'Hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism' http://www.orpha.net/ORDO/Orphanet_77296 Morgagni-Stewart-Morel syndrome 'Morgagni-Stewart-Morel syndrome' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Morgagni-Stewart-Morel syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020018 http://www.orpha.net/ORDO/Orphanet_77297 Majeed syndrome 'Majeed syndrome' SubClassOf 'Autoinflammatory syndrome with immune deficiency' 'Majeed syndrome' SubClassOf 'Constitutional dyserythropoietic anemia' 'Majeed syndrome' SubClassOf 'Autoinflammatory syndrome with immune deficiency' 'Majeed syndrome' SubClassOf 'Constitutional dyserythropoietic anemia' 'Majeed syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017370 'Majeed syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017954 http://www.orpha.net/ORDO/Orphanet_77292 Niemann-Pick disease type A 'Niemann-Pick disease type A' SubClassOf 'Niemann-Pick disease' 'Niemann-Pick disease type A' SubClassOf 'Metabolic disease with macular cherry-red spot' 'Niemann-Pick disease type A' SubClassOf 'Neurometabolic disease' 'Niemann-Pick disease type A' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018299 'Niemann-Pick disease type A' SubClassOf 'Niemann-Pick disease' 'Niemann-Pick disease type A' SubClassOf 'Metabolic disease with macular cherry-red spot' 'Niemann-Pick disease type A' SubClassOf 'Neurometabolic disease' 'Niemann-Pick disease type A' SubClassOf 'Monogenic disease with epilepsy' http://www.orpha.net/ORDO/Orphanet_77293 Niemann-Pick disease type B 'Niemann-Pick disease type B' SubClassOf 'Niemann-Pick disease' 'Niemann-Pick disease type B' SubClassOf 'Rare hereditary metabolic disease with peripheral neuropathy' 'Niemann-Pick disease type B' SubClassOf 'Niemann-Pick disease' 'Niemann-Pick disease type B' SubClassOf 'Rare hereditary metabolic disease with peripheral neuropathy' 'Niemann-Pick disease type B' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017024 http://purl.obolibrary.org/obo/CHEBI_15243 threonate 'threonate' SubClassOf 'chemical entity' 'threonate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_39214 abamectin 'abamectin' SubClassOf 'has_role' some 'antimicrobial agent' 'abamectin' SubClassOf 'has_role' some 'insecticide' http://purl.obolibrary.org/obo/BTO_0002488 uterine leiomyosarcoma cell line 'uterine leiomyosarcoma cell line' EquivalentTo 'cultured cell' and ('bearer_of' some 'uterine sarcoma') http://purl.obolibrary.org/obo/CHEBI_16566 sphinganine 'sphinganine' SubClassOf 'lipid' 'sphinganine' SubClassOf 'lipid' http://purl.obolibrary.org/obo/CHEBI_30854 indole-3-acetate 'indole-3-acetate' SubClassOf 'chemical entity' 'indole-3-acetate' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_294925 Amelia 'Amelia' SubClassOf 'Non-syndromic limb reduction defect' 'Amelia' SubClassOf 'Non-syndromic limb reduction defect' http://www.orpha.net/ORDO/Orphanet_294929 Terminal limb defects 'Terminal limb defects' SubClassOf 'Non-syndromic limb reduction defect' 'Terminal limb defects' SubClassOf 'Non-syndromic limb reduction defect' http://www.orpha.net/ORDO/Orphanet_294927 Intercalary limb defects 'Intercalary limb defects' SubClassOf 'Non-syndromic limb reduction defect' 'Intercalary limb defects' SubClassOf 'Non-syndromic limb reduction defect' http://www.orpha.net/ORDO/Orphanet_90280 Chilblain lupus 'Chilblain lupus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017841 'Chilblain lupus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019293 'Chilblain lupus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015574 'Chilblain lupus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000603 http://purl.obolibrary.org/obo/CHEBI_16587 20-hydroxyecdysone '20-hydroxyecdysone' SubClassOf 'has_role' some 'steroid hormone' http://purl.obolibrary.org/obo/CHEBI_76273 dodecanedioate(2-) 'dodecanedioate(2-)' SubClassOf 'chemical entity' 'dodecanedioate(2-)' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_76276 hexadecanedioate(2-) 'hexadecanedioate(2-)' SubClassOf 'chemical entity' 'hexadecanedioate(2-)' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_294931 Adactyly of hand 'Adactyly of hand' SubClassOf 'Terminal limb defects' 'Adactyly of hand' SubClassOf 'Terminal limb defects' http://www.orpha.net/ORDO/Orphanet_294937 Brachydactyly 'Brachydactyly' SubClassOf 'Terminal limb defects' 'Brachydactyly' SubClassOf 'Terminal limb defects' 'Brachydactyly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021004 http://www.orpha.net/ORDO/Orphanet_294939 Preaxial polydactyly of fingers 'Preaxial polydactyly of fingers' SubClassOf 'Polydactyly' 'Preaxial polydactyly of fingers' SubClassOf 'Polydactyly' http://purl.obolibrary.org/obo/PO_0025585 floral organ formation stage 'floral organ formation stage' SubClassOf 'flower development stage' 'floral organ formation stage' SubClassOf 'flower development stage' http://purl.obolibrary.org/obo/CHEBI_30839 orotate 'orotate' SubClassOf 'chemical entity' 'orotate' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_314002 Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome 'Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/CHEBI_17864 taurolithocholic acid sulfate 'taurolithocholic acid sulfate' SubClassOf 'lipid' 'taurolithocholic acid sulfate' SubClassOf 'lipid' http://purl.obolibrary.org/obo/CHEBI_17865 4-methyl-2-oxopentanoate '4-methyl-2-oxopentanoate' SubClassOf 'chemical entity' '4-methyl-2-oxopentanoate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_76281 tetradecanedioate (2-) 'tetradecanedioate (2-)' SubClassOf 'chemical entity' 'tetradecanedioate (2-)' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_76283 sebacate(2-) 'sebacate(2-)' SubClassOf 'chemical entity' 'sebacate(2-)' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_76282 suberate(2-) 'suberate(2-)' SubClassOf 'chemical entity' 'suberate(2-)' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_17859 glutaric acid 'glutaric acid' SubClassOf 'acid' 'glutaric acid' SubClassOf 'acid' http://purl.obolibrary.org/obo/CHEBI_30844 hydroxymalonate(1-) 'hydroxymalonate(1-)' SubClassOf 'chemical entity' 'hydroxymalonate(1-)' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_16522 trans-zeatin 'trans-zeatin' SubClassOf 'has_role' some 'hormone role' http://www.orpha.net/ORDO/Orphanet_329971 Generalized juvenile polyposis/juvenile polyposis coli 'Generalized juvenile polyposis/juvenile polyposis coli' SubClassOf 'Juvenile polyposis syndrome' 'Generalized juvenile polyposis/juvenile polyposis coli' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 'Generalized juvenile polyposis/juvenile polyposis coli' SubClassOf 'Juvenile polyposis syndrome' http://purl.obolibrary.org/obo/CHEBI_16552 N-formyl-L-methionine 'N-formyl-L-methionine' SubClassOf 'chemical entity' 'N-formyl-L-methionine' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_315311 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form' SubClassOf 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form' SubClassOf 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' http://www.orpha.net/ORDO/Orphanet_329967 Intermittent hydrarthrosis 'Intermittent hydrarthrosis' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'Intermittent hydrarthrosis' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'Intermittent hydrarthrosis' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Intermittent hydrarthrosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 'Intermittent hydrarthrosis' SubClassOf 'rheumatic disease' http://www.orpha.net/ORDO/Orphanet_217012 Spinocerebellar ataxia type 31 'Spinocerebellar ataxia type 31' SubClassOf 'Autosomal dominant cerebellar ataxia type 3' 'Spinocerebellar ataxia type 31' SubClassOf 'Autosomal dominant cerebellar ataxia type 3' http://www.orpha.net/ORDO/Orphanet_217017 Zechi-Ceide syndrome 'Zechi-Ceide syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Zechi-Ceide syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Zechi-Ceide syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Zechi-Ceide syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 http://purl.obolibrary.org/obo/CHEBI_17879 4-hydroxybenzoate '4-hydroxybenzoate' SubClassOf 'chemical entity' '4-hydroxybenzoate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_30823 oleate 'oleate' SubClassOf 'lipid' 'oleate' SubClassOf 'lipid' http://www.orpha.net/ORDO/Orphanet_401815 Autosomal recessive spastic paraplegia type 66 'Autosomal recessive spastic paraplegia type 66' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Autosomal recessive spastic paraplegia type 66' SubClassOf 'Autosomal recessive complex spastic paraplegia' http://purl.obolibrary.org/obo/CHEBI_29806 fumarate(2-) 'fumarate(2-)' SubClassOf 'chemical entity' 'fumarate(2-)' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_401810 Autosomal recessive spastic paraplegia type 64 'Autosomal recessive spastic paraplegia type 64' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Autosomal recessive spastic paraplegia type 64' SubClassOf 'Autosomal recessive complex spastic paraplegia' http://purl.obolibrary.org/obo/CHEBI_17823 calcitriol 'calcitriol' SubClassOf 'has_role' some 'vitamin' http://www.orpha.net/ORDO/Orphanet_329942 Transient neonatal multiple acyl-CoA dehydrogenase deficiency 'Transient neonatal multiple acyl-CoA dehydrogenase deficiency' SubClassOf 'Acyl-CoA dehydrogenase deficiency' 'Transient neonatal multiple acyl-CoA dehydrogenase deficiency' SubClassOf 'Acyl-CoA dehydrogenase deficiency' http://www.orpha.net/ORDO/Orphanet_401805 Autosomal recessive spastic paraplegia type 63 'Autosomal recessive spastic paraplegia type 63' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Autosomal recessive spastic paraplegia type 63' SubClassOf 'Autosomal recessive complex spastic paraplegia' http://purl.obolibrary.org/obo/CHEBI_30807 tetradecanoate 'tetradecanoate' SubClassOf 'lipid' 'tetradecanoate' SubClassOf 'lipid' http://purl.obolibrary.org/obo/PO_0000258 root cortex 'root cortex' SubClassOf 'part_of' some 'root structure' http://www.orpha.net/ORDO/Orphanet_401800 Autosomal recessive spastic paraplegia type 60 'Autosomal recessive spastic paraplegia type 60' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Autosomal recessive spastic paraplegia type 60' SubClassOf 'Autosomal recessive complex spastic paraplegia' http://purl.obolibrary.org/obo/PO_0000256 root hair 'root hair' SubClassOf 'part_of' some 'root structure' http://www.orpha.net/ORDO/Orphanet_315306 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form' SubClassOf 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form' SubClassOf 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' http://www.orpha.net/ORDO/Orphanet_217026 Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type 'Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type' SubClassOf 'Genetic malformation syndrome with short stature' 'Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type' SubClassOf 'Rare syndrome with cardiac malformations' 'Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type' SubClassOf 'Genetic malformation syndrome with short stature' 'Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type' SubClassOf 'Rare syndrome with cardiac malformations' http://www.orpha.net/ORDO/Orphanet_158124 Genetic dementia 'Genetic dementia' SubClassOf 'central nervous system disease' 'Genetic dementia' SubClassOf 'Rare genetic neurological disorder' 'Genetic dementia' SubClassOf 'has_disease_location' some 'brain' 'Genetic dementia' SubClassOf 'Rare genetic neurological disorder' 'Genetic dementia' SubClassOf 'cognitive disorder' http://www.orpha.net/ORDO/Orphanet_217023 Atypical hemolytic-uremic syndrome with thrombomodulin anomaly 'Atypical hemolytic-uremic syndrome with thrombomodulin anomaly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001549 http://www.orpha.net/ORDO/Orphanet_329931 C3 glomerulonephritis 'C3 glomerulonephritis' SubClassOf 'Non-immunoglobulin-mediated membranoproliferative glomerulonephritis' 'C3 glomerulonephritis' SubClassOf 'Non-immunoglobulin-mediated membranoproliferative glomerulonephritis' http://purl.obolibrary.org/obo/NCBITaxon_199200 Pseudomonas syringae pv. japonica 'Pseudomonas syringae pv. japonica' SubClassOf 'Pseudomonas' 'Pseudomonas syringae pv. japonica' SubClassOf 'Pseudomonas' http://www.ebi.ac.uk/efo/EFO_0005802 cartilage disease 'cartilage disease' SubClassOf 'skeletal system disease' 'cartilage disease' SubClassOf 'connective tissue disease' 'cartilage disease' EquivalentTo 'has_disease_location' some 'cartilage' http://www.orpha.net/ORDO/Orphanet_217055 Autosomal recessive intermediate Charcot-Marie-Tooth disease type A 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type A' SubClassOf 'Autosomal recessive intermediate Charcot-Marie-Tooth disease' 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type A' SubClassOf 'Autosomal recessive intermediate Charcot-Marie-Tooth disease' http://www.ebi.ac.uk/efo/EFO_0005803 hematologic disease 'hematologic disease' SubClassOf 'disease' 'hematologic disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021199 'hematologic disease' EquivalentTo 'disease' and ('has_disease_location' some ('hematopoietic system' or ('part_of' some 'hematopoietic system'))) http://www.ebi.ac.uk/efo/EFO_0005800 substance withdrawal syndrome 'substance withdrawal syndrome' SubClassOf 'mental or behavioural disorder' 'substance withdrawal syndrome' SubClassOf 'mental or behavioural disorder' 'substance withdrawal syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'substance withdrawal syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002494 http://www.ebi.ac.uk/efo/EFO_0005801 cholesterol embolism 'cholesterol embolism' SubClassOf 'vascular disease' 'cholesterol embolism' SubClassOf 'vascular disease' 'cholesterol embolism' SubClassOf 'has_disease_location' some 'blood vessel' http://www.orpha.net/ORDO/Orphanet_217052 Early-onset non-syndromic cataract 'Early-onset non-syndromic cataract' SubClassOf 'cataract' 'Early-onset non-syndromic cataract' SubClassOf 'Non-syndromic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_217059 Isolated congenital digital clubbing 'Isolated congenital digital clubbing' SubClassOf 'Isolated nail anomaly' 'Isolated congenital digital clubbing' SubClassOf 'Joint formation defects' 'Isolated congenital digital clubbing' SubClassOf 'Isolated nail anomaly' 'Isolated congenital digital clubbing' SubClassOf 'Joint formation defects' http://www.ebi.ac.uk/efo/EFO_0005804 polycythemia 'polycythemia' SubClassOf 'hematologic disease' 'polycythemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020006 'polycythemia' SubClassOf 'has_disease_location' some ('hematopoietic system' or ('part_of' some 'hematopoietic system')) 'polycythemia' EquivalentTo 'has part' some ('has extra parts of type' and ('has component' some 'abnormal') and ('has component' some 'pathological') and ('towards' some 'erythrocyte')) 'polycythemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003225 http://www.ebi.ac.uk/efo/EFO_0005805 polycythemia due to hypoxia 'polycythemia due to hypoxia' SubClassOf 'polycythemia' 'polycythemia due to hypoxia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016541 http://www.ebi.ac.uk/efo/EFO_0005809 type II hypersensitivity reaction disease 'type II hypersensitivity reaction disease' SubClassOf 'hypersensitivity reaction disease' 'allergy' DisjointWith 'type II hypersensitivity reaction disease' 'type II hypersensitivity reaction disease' EquivalentTo 'realized_in' some ('disease course' and ('has part' some 'type II hypersensitivity')) 'type II hypersensitivity reaction disease' SubClassOf 'hypersensitivity reaction disease' http://purl.obolibrary.org/obo/CHEBI_17833 gentamicin 'gentamicin' SubClassOf 'has_role' some 'antimicrobial agent' http://www.orpha.net/ORDO/Orphanet_329918 Non-immunoglobulin-mediated membranoproliferative glomerulonephritis 'Non-immunoglobulin-mediated membranoproliferative glomerulonephritis' SubClassOf 'Primary membranoproliferative glomerulonephritis' 'Non-immunoglobulin-mediated membranoproliferative glomerulonephritis' SubClassOf 'Primary membranoproliferative glomerulonephritis' http://www.ebi.ac.uk/efo/EFO_0005700 TTC549 'TTC549' SubClassOf 'cancer cell line' 'TTC549' SubClassOf 'bearer_of' some 'malignant rhabdoid tumour' 'TTC549' SubClassOf 'has_quality' some 'male' 'TTC549' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('liver' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0005703 G401.6 'G401.6' SubClassOf 'has_quality' some 'male' 'G401.6' SubClassOf 'derives_from' some 'European' 'G401.6' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('kidney' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0005704 HuH-7.5 'HuH-7.5' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('liver' and ('part_of' some 'Homo sapiens')))) 'HuH-7.5' SubClassOf 'has_quality' some 'male' 'HuH-7.5' SubClassOf 'bearer_of' some 'hepatocellular carcinoma' 'HuH-7.5' SubClassOf 'part_of' some 'Japanese' 'HuH-7.5' SubClassOf 'develops_from' some 'HuH-7' http://www.ebi.ac.uk/efo/EFO_0005701 malignant rhabdoid tumour 'malignant rhabdoid tumour' SubClassOf 'embryonal neoplasm' 'malignant rhabdoid tumour' SubClassOf 'neoplasm' and ('has_disease_location' some ('kidney' or ('part_of' some 'kidney'))) 'malignant rhabdoid tumour' SubClassOf 'soft tissue sarcoma' 'malignant rhabdoid tumour' SubClassOf 'embryonal neoplasm' http://www.ebi.ac.uk/efo/EFO_0005702 A204.1 'A204.1' SubClassOf 'has_quality' some 'female' 'A204.1' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('musculature' and ('part_of' some 'Homo sapiens')))) 'A204.1' SubClassOf 'bearer_of' some 'rhabdomyosarcoma' http://www.ebi.ac.uk/efo/EFO_0005707 786-0 '786-0' SubClassOf 'part_of' some 'European' '786-0' SubClassOf 'has_quality' some 'male' '786-0' SubClassOf 'bearer_of' some 'renal cell adenocarcinoma' '786-0' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('kidney' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0005708 renal cell adenocarcinoma 'renal cell adenocarcinoma' SubClassOf 'renal carcinoma' 'renal cell adenocarcinoma' SubClassOf 'adenocarcinoma' 'renal cell adenocarcinoma' SubClassOf 'renal cell carcinoma' 'renal cell adenocarcinoma' SubClassOf 'has_disease_location' some 'kidney' http://www.ebi.ac.uk/efo/EFO_0005705 olfactory neurosphere cell line 'olfactory neurosphere cell line' SubClassOf 'bearer_of' some 'normal' 'olfactory neurosphere cell line' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('olfactory epithelium' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0005706 Mel-2183 'Mel-2183' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('zone of skin' and ('part_of' some 'Homo sapiens')))) 'Mel-2183' SubClassOf 'has_quality' some 'male' 'Mel-2183' SubClassOf 'bearer_of' some 'melanoma' http://www.ebi.ac.uk/efo/EFO_0005709 HTR8/SVneo 'HTR8/SVneo' SubClassOf 'derives_from' some ('intermediate trophoblast cell' and ('part_of' some ('placenta' and ('part_of' some 'Homo sapiens')))) 'HTR8/SVneo' SubClassOf 'has_quality' some 'female' http://www.orpha.net/ORDO/Orphanet_42665 Tietz syndrome 'Tietz syndrome' SubClassOf 'Genetic hypopigmentation of the skin' 'Tietz syndrome' SubClassOf 'Pigmentation disorder with eye involvement, excluding albinism' 'Tietz syndrome' SubClassOf 'Syndromic genetic deafness' 'Tietz syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000275 'Tietz syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 'Tietz syndrome' SubClassOf 'Genetic hypopigmentation of the skin' 'Tietz syndrome' SubClassOf 'Pigmentation disorder with eye involvement, excluding albinism' 'Tietz syndrome' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_66634 Dilated cardiomyopathy with ataxia 'Dilated cardiomyopathy with ataxia' SubClassOf '3-methylglutaconic aciduria' 'Dilated cardiomyopathy with ataxia' SubClassOf 'Syndrome associated with dilated cardiomyopathy' 'Dilated cardiomyopathy with ataxia' SubClassOf '3-methylglutaconic aciduria' 'Dilated cardiomyopathy with ataxia' SubClassOf 'Syndrome associated with dilated cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_66633 Sensorineural hearing loss - early graying - essential tremor 'Sensorineural hearing loss - early graying - essential tremor' SubClassOf 'Syndromic genetic deafness' 'Sensorineural hearing loss - early graying - essential tremor' SubClassOf 'Rare genetic tremor disorder' 'Sensorineural hearing loss - early graying - essential tremor' SubClassOf 'Syndromic genetic deafness' 'Sensorineural hearing loss - early graying - essential tremor' SubClassOf 'Rare genetic tremor disorder' 'Sensorineural hearing loss - early graying - essential tremor' SubClassOf 'Rare genetic movement disorder' http://www.orpha.net/ORDO/Orphanet_66630 Congenital pseudoarthrosis of clavicle 'Congenital pseudoarthrosis of clavicle' SubClassOf 'Dysostosis of genetic origin' 'Congenital pseudoarthrosis of clavicle' SubClassOf 'Dysostosis of genetic origin' http://www.orpha.net/ORDO/Orphanet_66631 CEDNIK syndrome 'CEDNIK syndrome' SubClassOf 'Autosomal ichthyosis syndrome with fatal disease course' 'CEDNIK syndrome' SubClassOf 'Autosomal ichthyosis syndrome with fatal disease course' 'CEDNIK syndrome' SubClassOf 'Diffuse palmoplantar keratoderma' 'CEDNIK syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'CEDNIK syndrome' SubClassOf 'Inherited non-syndromic ichthyosis' http://www.orpha.net/ORDO/Orphanet_66629 Goldberg-Shprintzen megacolon syndrome 'Goldberg-Shprintzen megacolon syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Goldberg-Shprintzen megacolon syndrome' SubClassOf 'Syndromic anorectal malformation' 'Goldberg-Shprintzen megacolon syndrome' SubClassOf 'Orofacial clefting syndrome' 'Goldberg-Shprintzen megacolon syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Goldberg-Shprintzen megacolon syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Goldberg-Shprintzen megacolon syndrome' SubClassOf 'Syndromic anorectal malformation' 'Goldberg-Shprintzen megacolon syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 'Goldberg-Shprintzen megacolon syndrome' SubClassOf 'Orofacial clefting syndrome' 'Goldberg-Shprintzen megacolon syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021189 'Goldberg-Shprintzen megacolon syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Goldberg-Shprintzen megacolon syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020169 http://www.orpha.net/ORDO/Orphanet_66628 Obesity due to congenital leptin deficiency 'Obesity due to congenital leptin deficiency' SubClassOf 'Hypogonadotropic hypogonadism associated with other endocrinopathies' 'Obesity due to congenital leptin deficiency' SubClassOf 'Genetic non-syndromic obesity' 'Obesity due to congenital leptin deficiency' SubClassOf 'Isolated congenital hypogonadotropic hypogonadism' 'Obesity due to congenital leptin deficiency' SubClassOf 'Hypogonadotropic hypogonadism associated with other endocrinopathies' 'Obesity due to congenital leptin deficiency' SubClassOf 'Genetic non-syndromic obesity' http://www.orpha.net/ORDO/Orphanet_66625 Cerebro-oculo-nasal syndrome 'Cerebro-oculo-nasal syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Cerebro-oculo-nasal syndrome' SubClassOf 'Genetic syndrome with a central nervous system malformation as major feature' 'Cerebro-oculo-nasal syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017120 'Cerebro-oculo-nasal syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Cerebro-oculo-nasal syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 http://www.orpha.net/ORDO/Orphanet_171201 High anorectal malformation 'High anorectal malformation' SubClassOf 'Isolated anorectal malformation' 'High anorectal malformation' SubClassOf 'Isolated anorectal malformation' http://www.ebi.ac.uk/efo/EFO_0005721 SK-N-DZ 'SK-N-DZ' SubClassOf 'part_of' some 'European' 'SK-N-DZ' SubClassOf 'bearer_of' some 'neuroblastoma' 'SK-N-DZ' SubClassOf 'derives_from' some ('neuroblast (sensu Vertebrata)' and ('part_of' some ('brain' and ('part_of' some 'Homo sapiens')))) 'SK-N-DZ' SubClassOf 'has_quality' some 'female' http://www.ebi.ac.uk/efo/EFO_0005722 SJCRH30 'SJCRH30' SubClassOf 'derives_from' some ('fibroblast' and ('part_of' some ('musculature' and ('part_of' some 'Homo sapiens')))) 'SJCRH30' SubClassOf 'has_quality' some 'male' 'SJCRH30' SubClassOf 'bearer_of' some 'rhabdomyosarcoma' 'SJCRH30' SubClassOf 'part_of' some 'European' http://purl.obolibrary.org/obo/DOID_1947 trichomoniasis 'trichomoniasis' SubClassOf 'parasitic infection' 'trichomoniasis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002428 http://www.ebi.ac.uk/efo/EFO_0005720 SK-MEL-5 'SK-MEL-5' SubClassOf 'part_of' some 'European' 'SK-MEL-5' SubClassOf 'bearer_of' some 'melanoma' 'SK-MEL-5' SubClassOf 'derives_from' some ('epidermal cell' and ('part_of' some ('zone of skin' and ('part_of' some 'Homo sapiens')))) 'SK-MEL-5' SubClassOf 'has_quality' some 'female' http://www.ebi.ac.uk/efo/EFO_0005725 BE(2)-C 'BE(2)-C' SubClassOf 'derives_from' some ('neuroblast (sensu Vertebrata)' and ('part_of' some ('brain' and ('part_of' some 'Homo sapiens')))) 'BE(2)-C' SubClassOf 'has_quality' some 'male' 'BE(2)-C' SubClassOf 'bearer_of' some 'neuroblastoma' http://www.ebi.ac.uk/efo/EFO_0005726 LNCaP clone FGC 'LNCaP clone FGC' SubClassOf 'has_quality' some 'male' 'LNCaP clone FGC' SubClassOf 'bearer_of' some 'metastatic prostate cancer' 'LNCaP clone FGC' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('prostate gland' and ('part_of' some 'Homo sapiens')))) 'LNCaP clone FGC' SubClassOf 'part_of' some 'European' http://purl.obolibrary.org/obo/HP_0009717 Cortical tubers 'Cortical tubers' SubClassOf 'abnormality of brain morphology' 'Cortical tubers' SubClassOf 'abnormality of brain morphology' http://www.ebi.ac.uk/efo/EFO_0005723 GM23248 'GM23248' SubClassOf 'part_of' some 'European' 'GM23248' SubClassOf 'has_quality' some 'male' 'GM23248' SubClassOf 'derives_from' some ('fibroblast' and ('part_of' some ('zone of skin' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0005724 MM.1S 'MM.1S' SubClassOf 'cancer cell line' 'MM.1S' SubClassOf 'part_of' some 'African American' 'MM.1S' SubClassOf 'has_quality' some 'female' 'MM.1S' SubClassOf 'cultured cell' and ('bearer_of' some 'multiple myeloma') 'MM.1S' SubClassOf 'lymphoma or leukaemia cell line' 'MM.1S' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('blood' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0005728 bronchial epithelial cell derived cell line 'bronchial epithelial cell derived cell line' EquivalentTo 'derives_from' some 'epithelium of bronchus' 'bronchial epithelial cell derived cell line' EquivalentTo 'derives_from' some ('respiratory epithelial cell' and ('part_of' some (('developmental stage' or 'organism part') and ('part_of' some 'organism')))) http://www.orpha.net/ORDO/Orphanet_28378 Tyrosinemia type 2 'Tyrosinemia type 2' SubClassOf 'Autosomal recessive disease with focal palmoplantar keratoderma as a major feature' 'Tyrosinemia type 2' SubClassOf 'Disorder of tyrosine metabolism' 'Tyrosinemia type 2' SubClassOf 'Metabolic disease with corneal opacity' 'Tyrosinemia type 2' SubClassOf 'Syndromic ichthyosis associated with ocular features' 'Tyrosinemia type 2' SubClassOf 'Autosomal recessive disease with focal palmoplantar keratoderma as a major feature' 'Tyrosinemia type 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004741 'Tyrosinemia type 2' SubClassOf 'Metabolic disease with corneal opacity' 'Tyrosinemia type 2' SubClassOf 'Syndromic ichthyosis associated with ocular features' 'Tyrosinemia type 2' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_42642 PFAPA syndrome 'PFAPA syndrome' SubClassOf 'type II hypersensitivity reaction disease' 'PFAPA syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015158 http://www.ebi.ac.uk/efo/EFO_0005710 HFF-Myc 'HFF-Myc' SubClassOf 'derives_from' some ('fibroblast' and ('part_of' some ('prepuce of penis' and ('part_of' some 'Homo sapiens')))) 'HFF-Myc' SubClassOf 'has_quality' some 'male' http://purl.obolibrary.org/obo/CLO_0035579 AG07307 'AG07307' SubClassOf 'derives_from' some ('fibroblast' and ('part_of' some ('arm' and ('part_of' some 'Homo sapiens')))) 'AG07307' SubClassOf 'has_quality' some 'female' 'AG07307' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0005711 HPDE6-E6E7 'HPDE6-E6E7' SubClassOf 'has_quality' some 'female' 'HPDE6-E6E7' SubClassOf 'bearer_of' some 'normal' 'HPDE6-E6E7' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('epithelium of pancreatic duct' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0005714 LHCN-M2 'LHCN-M2' SubClassOf 'part_of' some 'European' 'LHCN-M2' SubClassOf 'has_quality' some 'male' 'LHCN-M2' SubClassOf 'derives_from' some ('skeletal muscle myoblast' and ('part_of' some ('pectoralis major' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0005715 WERI-Rb-1 'WERI-Rb-1' SubClassOf 'bearer_of' some 'retinoblastoma (nonhereditary)' 'WERI-Rb-1' SubClassOf 'part_of' some 'European' 'WERI-Rb-1' SubClassOf 'has_quality' some 'female' 'WERI-Rb-1' SubClassOf 'derives_from' some ('retinal cell' and ('part_of' some ('retina' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0005712 RPMI-7951 'RPMI-7951' SubClassOf 'part_of' some 'European' 'RPMI-7951' SubClassOf 'bearer_of' some 'melanoma' 'RPMI-7951' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('zone of skin' and ('part_of' some 'Homo sapiens')))) 'RPMI-7951' SubClassOf 'has_quality' some 'female' http://www.ebi.ac.uk/efo/EFO_0005713 8988T '8988T' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('pancreas' and ('part_of' some 'Homo sapiens')))) '8988T' SubClassOf 'bearer_of' some 'pancreatic carcinoma' '8988T' SubClassOf 'has_quality' some 'female' http://www.ebi.ac.uk/efo/EFO_0005718 Ishikawa 'Ishikawa' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('uterus' and ('part_of' some 'Homo sapiens')))) 'Ishikawa' SubClassOf 'bearer_of' some 'endometrium adenocarcinoma' 'Ishikawa' SubClassOf 'has_quality' some 'female' http://www.ebi.ac.uk/efo/EFO_0005719 Karpas 422 'Karpas 422' SubClassOf 'has_quality' some 'female' 'Karpas 422' SubClassOf 'bearer_of' some 'diffuse large B-cell lymphoma' 'Karpas 422' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('lymph node' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0005716 retinal cancer 'retinal cancer' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002236 'retinal cancer' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021231 http://www.ebi.ac.uk/efo/EFO_0005717 retinoblastoma (nonhereditary) 'retinoblastoma (nonhereditary)' SubClassOf 'retinal cancer' 'retinoblastoma (nonhereditary)' SubClassOf 'Retinoblastoma' http://purl.obolibrary.org/obo/CHEBI_9130 sevoflurane 'sevoflurane' SubClassOf 'has_role' some 'inhalation anaesthetic' http://www.ebi.ac.uk/efo/EFO_0005740 iPSC derived cell line 'iPSC derived cell line' EquivalentTo 'derives_from' some ('induced pluripotent stem cell' and ('part_of' some (('developmental stage' or 'organism part') and ('part_of' some 'organism')))) http://www.orpha.net/ORDO/Orphanet_401777 Optic atrophy-intellectual disability syndrome 'Optic atrophy-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Optic atrophy-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018609 http://www.ebi.ac.uk/efo/EFO_0005743 CME-W1-Cl.8+ 'CME-W1-Cl.8+' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('wing disc' and 'third instar larva stage' and ('part_of' some 'Drosophila melanogaster')))) 'CME-W1-Cl.8+' SubClassOf 'has_quality' some 'male' 'CME-W1-Cl.8+' SubClassOf 'is_input_of' some 'ENCODE functional genome mapping' http://www.ebi.ac.uk/efo/EFO_0005744 CME-W2 'CME-W2' SubClassOf 'is_input_of' some 'ENCODE functional genome mapping' 'CME-W2' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('wing disc' and 'third instar larva stage' and ('part_of' some 'Drosophila melanogaster')))) http://www.ebi.ac.uk/efo/EFO_0005741 infectious disease 'infectious disease' EquivalentTo 'disease' and ('realized_in' some ('disease course' and ('has part' some 'infection'))) http://purl.obolibrary.org/obo/MONDO_0019751 DisjointWith 'infectious disease' http://www.ebi.ac.uk/efo/EFO_0005742 lung fibroblast derived cell line 'lung fibroblast derived cell line' EquivalentTo 'derives_from' some ('lung fibroblast' and ('part_of' some (('lung' or 'developmental stage') and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_0005747 GM2 'GM2' SubClassOf 'has_quality' some 'male' 'GM2' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('embryo' and ('part_of' some 'Drosophila melanogaster')))) 'GM2' SubClassOf 'is_input_of' some 'ENCODE functional genome mapping' http://www.ebi.ac.uk/efo/EFO_0005745 fGS/OSS 'fGS/OSS' SubClassOf 'has_quality' some 'female' 'fGS/OSS' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('female gonad' and 'adult' and ('part_of' some 'Drosophila melanogaster')))) 'fGS/OSS' SubClassOf 'is_input_of' some 'ENCODE functional genome mapping' http://www.ebi.ac.uk/efo/EFO_0005746 G2 'G2' SubClassOf 'is_input_of' some 'ENCODE functional genome mapping' 'G2' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('embryo' and 'organism part' and ('part_of' some 'Drosophila melanogaster')))) http://www.orpha.net/ORDO/Orphanet_52022 Potocki-Shaffer syndrome 'Potocki-Shaffer syndrome' SubClassOf 'Partial deletion of the short arm of chromosome 11' 'Potocki-Shaffer syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007 'Potocki-Shaffer syndrome' SubClassOf 'Partial deletion of the short arm of chromosome 11' http://www.orpha.net/ORDO/Orphanet_53351 X-linked dystonia-parkinsonism 'X-linked dystonia-parkinsonism' SubClassOf 'Persistent combined dystonia' 'X-linked dystonia-parkinsonism' SubClassOf 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' 'X-linked dystonia-parkinsonism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000477 'X-linked dystonia-parkinsonism' SubClassOf 'Persistent combined dystonia' 'X-linked dystonia-parkinsonism' SubClassOf 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_314041 Marfanoid habitus - inguinal hernia - advanced bone age 'Marfanoid habitus - inguinal hernia - advanced bone age' SubClassOf 'Malformation syndrome with connective tissue involvement' 'Marfanoid habitus - inguinal hernia - advanced bone age' SubClassOf 'Malformation syndrome with connective tissue involvement' http://www.orpha.net/ORDO/Orphanet_39041 Omenn syndrome 'Omenn syndrome' SubClassOf 'Combined T and B cell immunodeficiency' 'Omenn syndrome' SubClassOf 'Severe combined immunodeficiency' http://www.orpha.net/ORDO/Orphanet_401768 Proximal myopathy with extrapyramidal signs 'Proximal myopathy with extrapyramidal signs' SubClassOf 'Miscellaneous movement disorder due to genetic neurodegenerative disease' 'Proximal myopathy with extrapyramidal signs' SubClassOf 'Non-dystrophic myopathy' 'Proximal myopathy with extrapyramidal signs' SubClassOf 'Miscellaneous movement disorder due to genetic neurodegenerative disease' 'Proximal myopathy with extrapyramidal signs' SubClassOf 'Non-dystrophic myopathy' http://www.ebi.ac.uk/efo/EFO_0005730 endothelial cell derived cell line 'endothelial cell derived cell line' EquivalentTo 'derives_from' some ('endothelial cell' and ('part_of' some (('developmental stage' or 'organism part') and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_0005731 cardiac myocyte cell derived cell line 'cardiac myocyte cell derived cell line' EquivalentTo 'derives_from' some ('cardiac muscle cell' and ('part_of' some (('developmental stage' or 'organism part') and ('part_of' some 'organism')))) 'cardiac myocyte cell derived cell line' EquivalentTo 'derives_from' some 'heart component' http://www.orpha.net/ORDO/Orphanet_401764 Pancytopenia-developmental delay syndrome 'Pancytopenia-developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000159 'Pancytopenia-developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001713 http://www.ebi.ac.uk/efo/EFO_0005736 bronchial smooth muscle cell derived cell line 'bronchial smooth muscle cell derived cell line' EquivalentTo 'derives_from' some ('bronchial smooth muscle cell' and ('part_of' some (('developmental stage' or 'organism part') and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_0005734 muscle cell derived cell line 'muscle cell derived cell line' EquivalentTo 'derives_from' some ('muscle cell' and ('part_of' some (('developmental stage' or 'organism part') and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_0005735 smooth muscle cell derived cell line 'smooth muscle cell derived cell line' EquivalentTo 'derives_from' some ('smooth muscle cell' and ('part_of' some (('developmental stage' or 'organism part') and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_0005738 ESC derived cell line 'ESC derived cell line' EquivalentTo 'derives_from' some ('embryonic stem cell' and ('part_of' some (('developmental stage' or 'organism part') and ('part_of' some 'organism')))) http://www.ebi.ac.uk/efo/EFO_0005739 obsolete_induced pluripotent stem cell 'obsolete_induced pluripotent stem cell' SubClassOf 'obsolete class' 'obsolete_induced pluripotent stem cell' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_314051 Leukoencephalopathy - thalamus and brainstem anomalies - high lactate 'Leukoencephalopathy - thalamus and brainstem anomalies - high lactate' SubClassOf 'Leukodystrophy' 'Leukoencephalopathy - thalamus and brainstem anomalies - high lactate' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Leukoencephalopathy - thalamus and brainstem anomalies - high lactate' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000732 'Leukoencephalopathy - thalamus and brainstem anomalies - high lactate' SubClassOf 'Leukodystrophy' 'Leukoencephalopathy - thalamus and brainstem anomalies - high lactate' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Leukoencephalopathy - thalamus and brainstem anomalies - high lactate' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 http://purl.obolibrary.org/obo/CHEBI_9150 simvastatin 'simvastatin' SubClassOf 'has_role' some 'drug role' http://www.ebi.ac.uk/efo/EFO_0005761 lupus nephritis 'lupus nephritis' SubClassOf 'nephritis' 'lupus nephritis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0030700 'lupus nephritis' SubClassOf 'is_about' some 'systemic lupus erythematosus' 'lupus nephritis' SubClassOf http://purl.obolibrary.org/obo/RO_0004022 some 'systemic lupus erythematosus' 'lupus nephritis' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0002462 and (http://purl.obolibrary.org/obo/RO_0004022 some 'systemic lupus erythematosus') http://www.ebi.ac.uk/efo/EFO_0003100 peripheral neuropathy 'peripheral neuropathy' SubClassOf 'peripheral nervous system disease' http://www.ebi.ac.uk/efo/EFO_0005760 serum carcinoembryonic antigen measurement 'serum carcinoembryonic antigen measurement' SubClassOf ('is_about' some 'cancer') or ('is_about' some 'liver disease') or ('is_about' some 'inflammatory bowel disease') http://www.ebi.ac.uk/efo/EFO_0003102 osteomyelitis 'osteomyelitis' SubClassOf 'bone disease' 'osteomyelitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002614 'osteomyelitis' SubClassOf 'has_disease_location' some 'bone marrow' 'osteomyelitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003225 'osteomyelitis' SubClassOf 'has_disease_location' some 'bone' http://www.ebi.ac.uk/efo/EFO_0005765 obsolete_response to haloperidol 'obsolete_response to haloperidol' SubClassOf 'obsolete class' 'obsolete_response to haloperidol' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003101 testicular seminoma 'testicular seminoma' SubClassOf 'testicular disease' 'testicular seminoma' SubClassOf 'urogenital neoplasm' 'testicular seminoma' SubClassOf 'germ cell tumor' 'testicular seminoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003001 'testicular seminoma' SubClassOf 'has_disease_location' some 'testis' 'testicular seminoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002874 'testicular seminoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003510 http://www.ebi.ac.uk/efo/EFO_0005766 skin fluorescence measurement 'skin fluorescence measurement' SubClassOf 'is_about' some 'diabetes mellitus' http://www.ebi.ac.uk/efo/EFO_0003104 adrenocortical adenoma 'adrenocortical adenoma' SubClassOf 'endocrine neoplasm' 'adrenocortical adenoma' SubClassOf 'adenoma' 'adrenocortical adenoma' SubClassOf 'has_disease_location' some 'adrenal cortex' 'adrenocortical adenoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021511 'adrenocortical adenoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0036976 'adrenocortical adenoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0036591 'adrenocortical adenoma' SubClassOf 'adenoma' http://www.ebi.ac.uk/efo/EFO_0005763 pulse pressure measurement 'pulse pressure measurement' SubClassOf 'is_about' some 'atrial fibrillation' 'pulse pressure measurement' SubClassOf 'is_about' some 'cardiovascular disease' http://www.ebi.ac.uk/efo/EFO_0003103 urinary tract infection 'urinary tract infection' SubClassOf 'bacterial disease' 'urinary tract infection' SubClassOf 'bacterial disease' 'urinary tract infection' SubClassOf 'has_disease_location' some ('ureter' or 'urethra' or 'urinary bladder') 'urinary tract infection' SubClassOf 'urinary system disease' http://www.ebi.ac.uk/efo/EFO_0003106 pneumonia 'pneumonia' SubClassOf 'lung disease' 'pneumonia' SubClassOf 'infectious disease' 'pneumonia' SubClassOf 'has_disease_location' some 'lung' 'pneumonia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024355 'pneumonia' SubClassOf 'lung disease' http://www.ebi.ac.uk/efo/EFO_0005769 calcium metabolic disease 'calcium metabolic disease' SubClassOf 'mineral metabolism disease' 'calcium metabolic disease' SubClassOf 'participates_in' some 'metabolic process' 'calcium metabolic disease' SubClassOf 'mineral metabolism disease' 'calcium metabolic disease' EquivalentTo 'participates_in' some 'calcium ion homeostasis' 'calcium metabolic disease' EquivalentTo 'realized_in' some ('disease course' and ('has part' some 'calcium ion homeostasis')) http://www.ebi.ac.uk/efo/EFO_0003105 spina bifida 'spina bifida' SubClassOf 'genetic disorder' 'spina bifida' SubClassOf 'central nervous system disease' 'spina bifida' SubClassOf 'disease has feature' some http://purl.obolibrary.org/obo/MONDO_0001147 'spina bifida' SubClassOf 'has_disease_location' some 'spinal cord' 'spina bifida' SubClassOf 'Neural tube closure defect' 'spina bifida' SubClassOf 'spinal cord disease' http://www.ebi.ac.uk/efo/EFO_0005767 rheumatoid factor measurement 'rheumatoid factor measurement' SubClassOf (('is_about' some 'leukemia') or ('is_about' some 'rheumatoid arthritis') or ('is_about' some 'Sjogren syndrome') or ('is_about' some 'systemic lupus erythematosus') or ('is_about' some 'infectious disease')) or ('is_about' some 'systemic scleroderma') 'rheumatoid factor measurement' SubClassOf 'is_about' some 'antibody' http://www.ebi.ac.uk/efo/EFO_0003107 obsolete_spinal muscular atrophy with respiratory distress 'obsolete_spinal muscular atrophy with respiratory distress' SubClassOf 'obsolete class' 'obsolete_spinal muscular atrophy with respiratory distress' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_314029 High bone mass osteogenesis imperfecta 'High bone mass osteogenesis imperfecta' SubClassOf 'Primary bone dysplasia with increased bone density' 'High bone mass osteogenesis imperfecta' SubClassOf 'Primary bone dysplasia with increased bone density' http://www.ebi.ac.uk/efo/EFO_0003109 obsolete_alopecia 'obsolete_alopecia' SubClassOf 'obsolete class' 'obsolete_alopecia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_77300 Auricular abnormalities - cleft lip with or without cleft palate - ocular abnormalities 'Auricular abnormalities - cleft lip with or without cleft palate - ocular abnormalities' SubClassOf 'Orofacial clefting syndrome' 'Auricular abnormalities - cleft lip with or without cleft palate - ocular abnormalities' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Auricular abnormalities - cleft lip with or without cleft palate - ocular abnormalities' SubClassOf 'Orofacial clefting syndrome' 'Auricular abnormalities - cleft lip with or without cleft palate - ocular abnormalities' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 'Auricular abnormalities - cleft lip with or without cleft palate - ocular abnormalities' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_77301 Monosomy 9q22.3 'Monosomy 9q22.3' SubClassOf 'Partial monosomy of the long arm of chromosome 9' 'Monosomy 9q22.3' SubClassOf 'Partial monosomy of the long arm of chromosome 9' http://www.orpha.net/ORDO/Orphanet_66637 Diaphanospondylodysostosis 'Diaphanospondylodysostosis' SubClassOf 'Dysostosis with predominant vertebral and costal involvement' 'Diaphanospondylodysostosis' SubClassOf 'Spondylodysplastic dysplasia' 'Diaphanospondylodysostosis' SubClassOf 'Dysostosis with predominant vertebral and costal involvement' 'Diaphanospondylodysostosis' SubClassOf 'Spondylodysplastic dysplasia' http://www.ebi.ac.uk/efo/EFO_0005751 eye allergy 'eye allergy' SubClassOf 'eye disease' 'eye allergy' SubClassOf 'allergy' 'eye allergy' SubClassOf 'eye disease' 'eye allergy' SubClassOf 'allergy' 'eye allergy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021166 http://www.orpha.net/ORDO/Orphanet_314034 7p22.1 microduplication syndrome '7p22.1 microduplication syndrome' SubClassOf 'Partial duplication of the short arm of chromosome 7' '7p22.1 microduplication syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '7p22.1 microduplication syndrome' SubClassOf 'Partial duplication of the short arm of chromosome 7' '7p22.1 microduplication syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '7p22.1 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 '7p22.1 microduplication syndrome' SubClassOf 'Rare genetic neurological disorder' '7p22.1 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 http://www.ebi.ac.uk/efo/EFO_0004423 exon 'exon' SubClassOf 'part_of' some 'exome' http://www.ebi.ac.uk/efo/EFO_0005754 parathyroid disease 'parathyroid disease' EquivalentTo 'has_disease_location' some 'parathyroid' 'uninfected' DisjointWith 'parathyroid disease' 'parathyroid disease' SubClassOf 'endocrine system disease' 'parathyroid disease' SubClassOf 'participates_in' some 'calcium ion homeostasis' http://www.ebi.ac.uk/efo/EFO_0005755 rheumatic disease 'rheumatic disease' SubClassOf 'skeletal system disease' 'uninfected' DisjointWith 'rheumatic disease' 'rheumatic disease' EquivalentTo 'has_disease_location' some ('connective tissue' or 'skeletal joint') 'rheumatic disease' SubClassOf 'connective tissue disease' http://www.ebi.ac.uk/efo/EFO_0005752 eye inflammation 'eye inflammation' EquivalentTo 'occurs in' some 'eye' http://www.ebi.ac.uk/efo/EFO_0004422 exome 'exome' SubClassOf 'part_of' some 'genome' http://www.ebi.ac.uk/efo/EFO_0005753 ocular vascular disease 'ocular vascular disease' SubClassOf 'eye disease' 'ocular vascular disease' SubClassOf 'cardiovascular disease' 'uninfected' DisjointWith 'ocular vascular disease' 'ocular vascular disease' EquivalentTo 'has_disease_location' some 'vasculature of eye' 'ocular vascular disease' SubClassOf 'eye disease' 'ocular vascular disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043218 http://www.ebi.ac.uk/efo/EFO_0005758 cycloplegia 'cycloplegia' SubClassOf 'eye disease' 'cycloplegia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000926 http://www.ebi.ac.uk/efo/EFO_0004428 FAIRE-seq 'FAIRE-seq' SubClassOf 'has_participant' some 'sequencer' 'FAIRE-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0005757 vaginal inflammation 'vaginal inflammation' EquivalentTo 'inheres_in' some 'vagina' http://www.orpha.net/ORDO/Orphanet_53347 Brody myopathy 'Brody myopathy' SubClassOf 'Non-dystrophic myopathy' 'Brody myopathy' SubClassOf 'Qualitative or quantitative defects of protein SERCA1' 'Brody myopathy' SubClassOf 'Non-dystrophic myopathy' 'Brody myopathy' SubClassOf 'Qualitative or quantitative defects of protein SERCA1' http://purl.obolibrary.org/obo/CHEBI_9168 rapamycin 'rapamycin' SubClassOf ('has_role' some 'antineoplastic agent') or ('has_role' some 'immunosuppressive agent') or ('has_role' some 'antifungal drug') http://www.ebi.ac.uk/efo/EFO_0003120 NCI-H2279 'NCI-H2279' SubClassOf 'bearer_of' some 'lung adenocarcinoma' 'NCI-H2279' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0004452 obsolete_Arabidopsis Growth Stage 6.50 'obsolete_Arabidopsis Growth Stage 6.50' SubClassOf 'obsolete class' 'obsolete_Arabidopsis Growth Stage 6.50' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0005783 NUT midline carcinoma 'NUT midline carcinoma' SubClassOf 'carcinoma' 'NUT midline carcinoma' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'NUT midline carcinoma' SubClassOf 'has_disease_location' some 'epithelial cell' 'NUT midline carcinoma' SubClassOf 'undifferentiated carcinoma' http://www.ebi.ac.uk/efo/EFO_0005784 embryonal neoplasm 'embryonal neoplasm' SubClassOf 'neoplasm' 'embryonal neoplasm' SubClassOf 'neoplasm' http://www.ebi.ac.uk/efo/EFO_0004453 obsolete_Arabidopsis Growth Stage 8.00 'obsolete_Arabidopsis Growth Stage 8.00' SubClassOf 'obsolete class' 'obsolete_Arabidopsis Growth Stage 8.00' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003122 NCI-H2287 'NCI-H2287' SubClassOf 'bearer_of' some 'lung carcinoma' 'NCI-H2287' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003121 NCI-H2882 'NCI-H2882' SubClassOf 'bearer_of' some 'lung carcinoma' 'NCI-H2882' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0004451 obsolete_Arabidopsis Growth Stage 6.30 'obsolete_Arabidopsis Growth Stage 6.30' SubClassOf 'obsolete class' 'obsolete_Arabidopsis Growth Stage 6.30' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0005782 age-related hearing impairment 'age-related hearing impairment' SubClassOf 'hearing loss' 'age-related hearing impairment' SubClassOf 'sensorineural hearing loss' http://www.ebi.ac.uk/efo/EFO_0003124 NCI-H520 'NCI-H520' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) 'NCI-H520' SubClassOf 'bearer_of' some 'squamous cell lung carcinoma' http://www.ebi.ac.uk/efo/EFO_0003123 NCI-H3255 'NCI-H3255' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) 'NCI-H3255' SubClassOf 'bearer_of' some 'lung adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0003126 HCC1171 'HCC1171' SubClassOf 'derives_from' some 'non-small cell lung carcinoma' 'HCC1171' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0004454 obsolete_Arabidopsis Growth Stage 9.70 'obsolete_Arabidopsis Growth Stage 9.70' SubClassOf 'obsolete class' 'obsolete_Arabidopsis Growth Stage 9.70' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0005785 blastoma 'blastoma' SubClassOf 'embryonal neoplasm' 'blastoma' SubClassOf 'embryonal neoplasm' 'blastoma' SubClassOf 'cancer' http://www.ebi.ac.uk/efo/EFO_0003125 NCI-H820 'NCI-H820' SubClassOf 'bearer_of' some 'lung adenocarcinoma' 'NCI-H820' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003128 HCC1359 'HCC1359' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) 'HCC1359' SubClassOf 'bearer_of' some 'non-small cell lung carcinoma' http://www.orpha.net/ORDO/Orphanet_90339 Rosselli-Gulienetti syndrome 'Rosselli-Gulienetti syndrome' SubClassOf 'Ankyloblepharon - ectodermal defects - cleft lip/palate' http://www.ebi.ac.uk/efo/EFO_0003127 HCC1159 'HCC1159' SubClassOf 'bearer_of' some 'squamous cell lung carcinoma' 'HCC1159' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0004458 C-reactive protein measurement 'C-reactive protein measurement' SubClassOf ('is_about' some 'cancer') or ('is_about' some 'cardiovascular disease') or ('is_about' some 'diabetes mellitus') or ('is_about' some 'hypertension') 'C-reactive protein measurement' SubClassOf 'is_about' some 'protein' 'C-reactive protein measurement' SubClassOf 'is_about' some 'inflammatory response' http://www.ebi.ac.uk/efo/EFO_0003129 HCC15 'HCC15' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) 'HCC15' SubClassOf 'bearer_of' some 'squamous cell lung carcinoma' http://www.ebi.ac.uk/efo/EFO_0004459 ferritin measurement 'ferritin measurement' SubClassOf 'is_about' some 'abnormality of iron homeostasis' 'ferritin measurement' SubClassOf 'is_about' some ('iron' and ('has_role' some 'biomarker')) http://www.orpha.net/ORDO/Orphanet_90340 Blau syndrome 'Blau syndrome' SubClassOf 'Autoinflammatory syndrome with immune deficiency' 'Blau syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017261 'Blau syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017370 'Blau syndrome' SubClassOf 'Autoinflammatory syndrome with immune deficiency' 'Blau syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017023 'Blau syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015939 'Blau syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017955 'Blau syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017259 http://www.orpha.net/ORDO/Orphanet_280270 Pelizaeus-Merzbacher-like disease 'Pelizaeus-Merzbacher-like disease' SubClassOf 'Leukodystrophy' 'Pelizaeus-Merzbacher-like disease' SubClassOf 'Leukodystrophy' http://www.orpha.net/ORDO/Orphanet_90348 Autosomal dominant cutis laxa 'Autosomal dominant cutis laxa' SubClassOf 'Cutis laxa' 'Autosomal dominant cutis laxa' SubClassOf 'Cutis laxa' 'Autosomal dominant cutis laxa' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 http://www.ebi.ac.uk/efo/EFO_0005772 neurodegenerative disease 'neurodegenerative disease' EquivalentTo 'realized_in' some ('disease course' and ('has part' some 'neurodegeneration')) 'neurodegenerative disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024236 http://www.orpha.net/ORDO/Orphanet_90342 Xeroderma pigmentosum variant 'Xeroderma pigmentosum variant' SubClassOf 'Xeroderma pigmentosum' 'Xeroderma pigmentosum variant' SubClassOf 'Xeroderma pigmentosum' http://www.ebi.ac.uk/efo/EFO_0005773 retinal detachment 'retinal detachment' SubClassOf 'retinopathy' 'retinal detachment' SubClassOf 'retinopathy' 'retinal detachment' SubClassOf 'Rare genetic neurological disorder' 'retinal detachment' SubClassOf 'has_disease_location' some 'retina' http://www.ebi.ac.uk/efo/EFO_0003111 obsolete_neuronal ceroid lipofuscinosis 'obsolete_neuronal ceroid lipofuscinosis' SubClassOf 'obsolete class' 'obsolete_neuronal ceroid lipofuscinosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0005771 ovarian disease 'ovarian disease' SubClassOf 'female reproductive system disease' 'ovarian disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002259 'ovarian disease' SubClassOf 'female reproductive system disease' 'ovarian disease' EquivalentTo 'has_disease_location' some ('female gonad' or ('part_of' some 'female gonad')) http://www.ebi.ac.uk/efo/EFO_0003110 villitis 'villitis' SubClassOf 'reproductive system disease' 'villitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021166 'villitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0045013 http://www.ebi.ac.uk/efo/EFO_0003113 obsolete_polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 'obsolete_polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy' SubClassOf 'obsolete class' 'obsolete_polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003112 obsolete_late infantile neuronal ceroid lipofuscinosis 'obsolete_late infantile neuronal ceroid lipofuscinosis' SubClassOf 'obsolete class' 'obsolete_late infantile neuronal ceroid lipofuscinosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003115 EBC-1 'EBC-1' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) 'EBC-1' SubClassOf 'bearer_of' some 'squamous cell lung carcinoma' http://www.ebi.ac.uk/efo/EFO_0005774 brain disease 'brain disease' SubClassOf 'disease' 'brain disease' SubClassOf 'central nervous system disease' http://www.ebi.ac.uk/efo/EFO_0005775 aortic disease 'aortic disease' SubClassOf 'vascular disease' 'aortic disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000473 'aortic disease' EquivalentTo 'has_disease_location' some 'aorta' http://www.ebi.ac.uk/efo/EFO_0003114 obsolete_pauciarticular juvenile rheumatoid arthritis 'obsolete_pauciarticular juvenile rheumatoid arthritis' SubClassOf 'obsolete class' 'obsolete_pauciarticular juvenile rheumatoid arthritis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003117 NCI-H1334 'NCI-H1334' SubClassOf 'bearer_of' some 'non-small cell lung carcinoma' 'NCI-H1334' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003116 NCI-H125 'NCI-H125' SubClassOf 'bearer_of' some 'adenosquamous lung carcinoma' 'NCI-H125' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) http://www.orpha.net/ORDO/Orphanet_90349 Autosomal recessive cutis laxa type 1 'Autosomal recessive cutis laxa type 1' SubClassOf 'Cutis laxa' 'Autosomal recessive cutis laxa type 1' SubClassOf 'autosomal recessive disease' 'Autosomal recessive cutis laxa type 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043218 'Autosomal recessive cutis laxa type 1' SubClassOf 'Cutis laxa' http://www.ebi.ac.uk/efo/EFO_0003119 NCI-H1648 'NCI-H1648' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) 'NCI-H1648' SubClassOf 'bearer_of' some 'lung adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0004447 peer review quality control role 'peer review quality control role' SubClassOf 'inheres_in' some ('Homo sapiens' and 'organization') http://www.ebi.ac.uk/efo/EFO_0003118 NCI-H157 'NCI-H157' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) 'NCI-H157' SubClassOf 'bearer_of' some 'squamous cell lung carcinoma' http://www.orpha.net/ORDO/Orphanet_280282 Pelizaeus-Merzbacher-like disease due to GJC2 mutation 'Pelizaeus-Merzbacher-like disease due to GJC2 mutation' SubClassOf 'Pelizaeus-Merzbacher-like disease' 'Pelizaeus-Merzbacher-like disease due to GJC2 mutation' SubClassOf 'Pelizaeus-Merzbacher-like disease' http://www.orpha.net/ORDO/Orphanet_90350 Autosomal recessive cutis laxa type 2 'Autosomal recessive cutis laxa type 2' SubClassOf 'Primary bone dysplasia with decreased bone density' 'Autosomal recessive cutis laxa type 2' SubClassOf 'Disorder of proline metabolism' 'Autosomal recessive cutis laxa type 2' SubClassOf 'Cutis laxa' 'Autosomal recessive cutis laxa type 2' SubClassOf 'Primary bone dysplasia with decreased bone density' 'Autosomal recessive cutis laxa type 2' SubClassOf 'Developmental anomaly of metabolic origin' 'Autosomal recessive cutis laxa type 2' SubClassOf 'Disorder of proline metabolism' 'Autosomal recessive cutis laxa type 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 'Autosomal recessive cutis laxa type 2' SubClassOf 'Cutis laxa' 'Autosomal recessive cutis laxa type 2' SubClassOf 'autosomal recessive disease' http://www.orpha.net/ORDO/Orphanet_280288 Pelizaeus-Merzbacher-like disease due to HSPD1 mutation 'Pelizaeus-Merzbacher-like disease due to HSPD1 mutation' SubClassOf 'Pelizaeus-Merzbacher-like disease' 'Pelizaeus-Merzbacher-like disease due to HSPD1 mutation' SubClassOf 'Pelizaeus-Merzbacher-like disease' http://www.ebi.ac.uk/efo/EFO_0004471 insulin sensitivity measurement 'insulin sensitivity measurement' SubClassOf 'is_about' some 'insulin' http://purl.obolibrary.org/obo/BTO_0002599 RBA-2 cell 'RBA-2 cell' SubClassOf 'derives_from' some ('cell type' and ('part_of' some (('developmental stage' or 'organism part') and ('part_of' some 'Rattus')))) http://www.ebi.ac.uk/efo/EFO_0003140 LC2/AD 'LC2/AD' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) 'LC2/AD' SubClassOf 'bearer_of' some 'lung adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0003142 Lu130 'Lu130' SubClassOf 'bearer_of' some 'small cell lung carcinoma' 'Lu130' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003141 LK-2 'LK-2' SubClassOf 'derives_from' some ('cell type' and ('part_of' some (('developmental stage' or 'organism part') and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003144 heart failure 'heart failure' SubClassOf 'heart disease' 'heart failure' SubClassOf 'has_disease_location' some 'heart' 'heart failure' SubClassOf 'heart disease' http://www.ebi.ac.uk/efo/EFO_0003143 CLIP-seq 'CLIP-seq' SubClassOf 'has_participant' some 'high throughput sequencer' 'CLIP-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.orpha.net/ORDO/Orphanet_90354 Brittle cornea syndrome 'Brittle cornea syndrome' SubClassOf 'corneal disease' 'Brittle cornea syndrome' SubClassOf 'Connective tissue disease with eye involvement' 'Brittle cornea syndrome' SubClassOf 'Ehlers-Danlos syndrome' 'Brittle cornea syndrome' SubClassOf 'autosomal recessive disease' 'Brittle cornea syndrome' SubClassOf 'corneal disease' 'Brittle cornea syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Brittle cornea syndrome' SubClassOf 'Connective tissue disease with eye involvement' 'Brittle cornea syndrome' SubClassOf 'Rare genetic neurological disorder' 'Brittle cornea syndrome' SubClassOf 'Ehlers-Danlos syndrome' 'Brittle cornea syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 http://www.ebi.ac.uk/efo/EFO_0003146 symptomatic heart failure 'symptomatic heart failure' SubClassOf 'heart failure' 'symptomatic heart failure' SubClassOf 'heart failure' http://www.ebi.ac.uk/efo/EFO_0003145 high output heart failure 'high output heart failure' SubClassOf 'heart failure' 'high output heart failure' SubClassOf 'heart failure' http://www.orpha.net/ORDO/Orphanet_401795 Autosomal recessive spastic paraplegia type 59 'Autosomal recessive spastic paraplegia type 59' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Autosomal recessive spastic paraplegia type 59' SubClassOf 'Autosomal recessive complex spastic paraplegia' http://www.ebi.ac.uk/efo/EFO_0003148 moderate heart failure 'moderate heart failure' SubClassOf 'symptomatic heart failure' 'moderate heart failure' SubClassOf 'symptomatic heart failure' http://www.ebi.ac.uk/efo/EFO_0003147 mild heart failure 'mild heart failure' SubClassOf 'symptomatic heart failure' 'mild heart failure' SubClassOf 'symptomatic heart failure' http://www.ebi.ac.uk/efo/EFO_0003149 advanced heart failure 'advanced heart failure' SubClassOf 'symptomatic heart failure' 'advanced heart failure' SubClassOf 'symptomatic heart failure' http://www.orpha.net/ORDO/Orphanet_52047 Braddock syndrome 'Braddock syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Braddock syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Braddock syndrome' SubClassOf 'Genetic hypertension' 'Braddock syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017159 http://www.orpha.net/ORDO/Orphanet_352301 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis' SubClassOf 'Disorder of lipid metabolism' 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis' SubClassOf 'Disorder of lipid metabolism' http://www.orpha.net/ORDO/Orphanet_53372 Hereditary geniospasm 'Hereditary geniospasm' SubClassOf 'Rare genetic tremor disorder' 'Hereditary geniospasm' SubClassOf 'Rare genetic movement disorder' 'Hereditary geniospasm' SubClassOf 'Rare genetic tremor disorder' http://www.orpha.net/ORDO/Orphanet_280293 Pelizaeus-Merzbacher-like disease due to AIMP1 mutation 'Pelizaeus-Merzbacher-like disease due to AIMP1 mutation' SubClassOf 'Pelizaeus-Merzbacher-like disease' 'Pelizaeus-Merzbacher-like disease due to AIMP1 mutation' SubClassOf 'Pelizaeus-Merzbacher-like disease' http://www.orpha.net/ORDO/Orphanet_90362 Primary intestinal lymphangiectasia 'Primary intestinal lymphangiectasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018178 http://www.orpha.net/ORDO/Orphanet_90368 Hypotrichosis simplex of the scalp 'Hypotrichosis simplex of the scalp' SubClassOf 'Alopecia' 'Hypotrichosis simplex of the scalp' SubClassOf 'Alopecia' 'Hypotrichosis simplex of the scalp' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021034 http://www.ebi.ac.uk/efo/EFO_0004460 soluble transferrin receptor measurement 'soluble transferrin receptor measurement' SubClassOf 'is_about' some ('iron' and ('has_role' some 'biomarker')) 'soluble transferrin receptor measurement' SubClassOf 'is_about' some 'abnormality of iron homeostasis' 'soluble transferrin receptor measurement' SubClassOf 'is_about' some 'protein' http://www.ebi.ac.uk/efo/EFO_0003131 HCC366 'HCC366' SubClassOf 'bearer_of' some 'adenosquamous lung carcinoma' 'HCC366' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0004463 angiotensin converting enzyme activity measurement 'angiotensin converting enzyme activity measurement' SubClassOf 'is_about' some 'enzyme' 'angiotensin converting enzyme activity measurement' SubClassOf 'is_about' some 'protein' 'angiotensin converting enzyme activity measurement' SubClassOf ('is_about' some 'hepatitis') or ('is_about' some 'Hodgkins lymphoma') or ('is_about' some 'Alzheimer's disease') or ('is_about' some 'diabetes mellitus') or ('is_about' some 'liver disease') or ('is_about' some 'lung disease') or ('is_about' some 'multiple sclerosis') or ('is_about' some 'anorexia nervosa') or ('is_about' some 'nephrotic syndrome') or ('is_about' some 'hypothyroidism') http://www.ebi.ac.uk/efo/EFO_0003130 HCC193 'HCC193' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) 'HCC193' SubClassOf 'bearer_of' some 'lung adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0004464 brain measurement 'brain measurement' EquivalentTo 'measurement' and ('is_about' some 'brain') http://www.ebi.ac.uk/efo/EFO_0003133 HCC44 'HCC44' SubClassOf 'bearer_of' some 'lung adenocarcinoma' 'HCC44' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0004461 iron biomarker measurement 'iron biomarker measurement' EquivalentTo 'measurement' and ('is_about' some ('iron' and ('has_role' some 'biomarker'))) http://www.ebi.ac.uk/efo/EFO_0005792 obsolete_Arabidopsis Growth Stage 6.10 'obsolete_Arabidopsis Growth Stage 6.10' SubClassOf 'obsolete class' 'obsolete_Arabidopsis Growth Stage 6.10' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003132 HCC4006 'HCC4006' SubClassOf 'bearer_of' some 'lung adenocarcinoma' 'HCC4006' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0004462 PR interval 'PR interval' SubClassOf 'is_about' some 'cardiovascular system' http://www.ebi.ac.uk/efo/EFO_0003135 HCC515 'HCC515' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) 'HCC515' SubClassOf 'bearer_of' some 'lung adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0004467 insulin measurement 'insulin measurement' EquivalentTo 'is_about' some 'insulin' 'insulin measurement' SubClassOf 'is_about' some 'insulin' 'insulin measurement' SubClassOf 'is_about' some 'diabetes mellitus' http://www.ebi.ac.uk/efo/EFO_0003134 HCC461 'HCC461' SubClassOf 'bearer_of' some 'lung adenocarcinoma' 'HCC461' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0004468 glucose measurement 'glucose measurement' EquivalentTo 'is_about' some 'glucose' 'glucose measurement' SubClassOf 'is_about' some 'type II diabetes mellitus' http://www.ebi.ac.uk/efo/EFO_0005799 neonatal abstinence syndrome 'neonatal abstinence syndrome' SubClassOf 'substance withdrawal syndrome' 'neonatal abstinence syndrome' SubClassOf 'substance withdrawal syndrome' http://www.ebi.ac.uk/efo/EFO_0003137 HCC827 'HCC827' SubClassOf 'bearer_of' some 'lung adenocarcinoma' 'HCC827' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0004465 fasting blood glucose measurement 'fasting blood glucose measurement' SubClassOf 'is_about' some 'glucose' 'fasting blood glucose measurement' SubClassOf 'is_about' some 'type II diabetes mellitus' http://www.orpha.net/ORDO/Orphanet_401785 Autosomal recessive spastic paraplegia type 62 'Autosomal recessive spastic paraplegia type 62' SubClassOf 'Autosomal recessive pure spastic paraplegia' 'Autosomal recessive spastic paraplegia type 62' SubClassOf 'Autosomal recessive pure spastic paraplegia' http://www.ebi.ac.uk/efo/EFO_0003136 HCC78 'HCC78' SubClassOf 'bearer_of' some 'lung adenocarcinoma' 'HCC78' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0004466 fasting blood insulin measurement 'fasting blood insulin measurement' SubClassOf ('is_about' some 'diabetes mellitus') or ('is_about' some 'insulinoma') or ('is_about' some 'obesity') or ('is_about' some 'insulin resistance') or ('is_about' some 'Cushing syndrome') 'fasting blood insulin measurement' SubClassOf 'is_about' some 'insulin' http://www.ebi.ac.uk/efo/EFO_0003139 HCjE 'HCjE' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('conjunctiva' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0003138 HCC95 'HCC95' SubClassOf 'bearer_of' some 'lung adenocarcinoma' 'HCC95' SubClassOf 'derives_from' some ('cell type' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) http://www.orpha.net/ORDO/Orphanet_352309 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement' SubClassOf 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis' 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement' SubClassOf 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis' http://www.orpha.net/ORDO/Orphanet_401780 Autosomal recessive spastic paraplegia type 61 'Autosomal recessive spastic paraplegia type 61' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Autosomal recessive spastic paraplegia type 61' SubClassOf 'Autosomal recessive complex spastic paraplegia' http://www.ebi.ac.uk/efo/EFO_0004469 HOMA-B 'HOMA-B' SubClassOf 'is_about' some 'insulin' 'HOMA-B' SubClassOf 'is_about' some 'beta cell' 'HOMA-B' SubClassOf 'is_about' some 'glucose' http://www.orpha.net/ORDO/Orphanet_352306 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement' SubClassOf 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis' 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement' SubClassOf 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis' http://www.orpha.net/ORDO/Orphanet_52055 Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia 'Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia' SubClassOf 'Rare eye disease due to a differentiation anomaly' 'Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia' SubClassOf 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' 'Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia' SubClassOf 'X-linked syndromic intellectual disability' 'Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia' SubClassOf 'Syndromic developmental defect of the eye' 'Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia' SubClassOf 'Rare eye disease due to a differentiation anomaly' 'Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia' SubClassOf 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' 'Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia' SubClassOf 'X-linked syndromic intellectual disability' 'Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia' SubClassOf 'Syndromic developmental defect of the eye' 'Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016055 http://www.orpha.net/ORDO/Orphanet_352312 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement' SubClassOf 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis' 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement' SubClassOf 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis' http://www.orpha.net/ORDO/Orphanet_52056 Ulnar/fibula ray defect - brachydactyly 'Ulnar/fibula ray defect - brachydactyly' SubClassOf 'Syndrome with brachydactyly' 'Ulnar/fibula ray defect - brachydactyly' SubClassOf 'Syndrome with brachydactyly' http://purl.obolibrary.org/obo/UBERON_2000813 infraorbital lateral line neuromast 'infraorbital lateral line neuromast' SubClassOf 'zebrafish component' 'infraorbital lateral line neuromast' SubClassOf 'neuromast' http://www.orpha.net/ORDO/Orphanet_52054 Craniosynostosis - intracranial calcifications 'Craniosynostosis - intracranial calcifications' SubClassOf 'Syndromic craniosynostosis' 'Craniosynostosis - intracranial calcifications' SubClassOf 'Syndromic craniosynostosis' http://purl.obolibrary.org/obo/UBERON_2000814 opercular lateral line neuromast 'opercular lateral line neuromast' SubClassOf 'zebrafish component' 'opercular lateral line neuromast' SubClassOf 'neuromast' http://purl.obolibrary.org/obo/UBERON_2000815 nucleus of medial longitudinal fasciculus of medulla 'nucleus of medial longitudinal fasciculus of medulla' SubClassOf 'part_of' some 'medulla oblongata' http://www.ebi.ac.uk/efo/EFO_0003160 obsolete_Filipino 'obsolete_Filipino' SubClassOf 'obsolete class' 'obsolete_Filipino' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003162 obsolete_Iranian 'obsolete_Iranian' SubClassOf 'obsolete class' 'obsolete_Iranian' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_280224 Pelizaeus-Merzbacher disease, transitional form 'Pelizaeus-Merzbacher disease, transitional form' SubClassOf 'Pelizaeus-Merzbacher disease' 'Pelizaeus-Merzbacher disease, transitional form' SubClassOf 'Pelizaeus-Merzbacher disease' http://www.ebi.ac.uk/efo/EFO_0003161 obsolete_Han Chinese 'obsolete_Han Chinese' SubClassOf 'obsolete class' 'obsolete_Han Chinese' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003164 obsolete_Japanese 'obsolete_Japanese' SubClassOf 'obsolete class' 'obsolete_Japanese' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003163 obsolete_Irish 'obsolete_Irish' SubClassOf 'obsolete class' 'obsolete_Irish' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_280229 Pelizaeus-Merzbacher disease in female carriers 'Pelizaeus-Merzbacher disease in female carriers' SubClassOf 'Pelizaeus-Merzbacher disease' 'Pelizaeus-Merzbacher disease in female carriers' SubClassOf 'Pelizaeus-Merzbacher disease' http://www.ebi.ac.uk/efo/EFO_0003166 obsolete_Latino 'obsolete_Latino' SubClassOf 'obsolete class' 'obsolete_Latino' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003165 obsolete_Korean 'obsolete_Korean' SubClassOf 'obsolete class' 'obsolete_Korean' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003168 obsolete_Hawaiian 'obsolete_Hawaiian' SubClassOf 'obsolete class' 'obsolete_Hawaiian' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003167 obsolete_Pima Indian 'obsolete_Pima Indian' SubClassOf 'obsolete class' 'obsolete_Pima Indian' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003169 obsolete_Hispanic 'obsolete_Hispanic' SubClassOf 'obsolete class' 'obsolete_Hispanic' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/UBERON_2000887 floor plate neural rod 'floor plate neural rod' SubClassOf 'zebrafish component' 'floor plate neural rod' SubClassOf 'floor plate' http://purl.obolibrary.org/obo/BTO_0001205 RT4-D6P2T cell 'RT4-D6P2T cell' SubClassOf 'derives_from' some ('cell type' and ('part_of' some (('developmental stage' or 'organism part') and ('part_of' some 'Rattus')))) http://purl.obolibrary.org/obo/CHEBI_40279 allopurinol 'allopurinol' SubClassOf 'has_role' some 'antimetabolite role' http://www.orpha.net/ORDO/Orphanet_90301 Acanthosis nigricans - Insulin resistance - muscle cramps - acral enlargement 'Acanthosis nigricans - Insulin resistance - muscle cramps - acral enlargement' SubClassOf 'Rare insulin-resistance syndrome' 'Acanthosis nigricans - Insulin resistance - muscle cramps - acral enlargement' SubClassOf 'Other genetic epidermal disease' 'Acanthosis nigricans - Insulin resistance - muscle cramps - acral enlargement' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019274 'Acanthosis nigricans - Insulin resistance - muscle cramps - acral enlargement' SubClassOf 'Rare insulin-resistance syndrome' 'Acanthosis nigricans - Insulin resistance - muscle cramps - acral enlargement' SubClassOf 'Other genetic epidermal disease' 'Acanthosis nigricans - Insulin resistance - muscle cramps - acral enlargement' SubClassOf 'acanthosis nigricans' http://www.ebi.ac.uk/efo/EFO_0003151 obsolete_American 'obsolete_American' SubClassOf 'obsolete class' 'obsolete_American' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003150 obsolete_African American 'obsolete_African American' SubClassOf 'obsolete class' 'obsolete_African American' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_280234 Null syndrome 'Null syndrome' SubClassOf 'Pelizaeus-Merzbacher disease' 'Null syndrome' SubClassOf 'Pelizaeus-Merzbacher disease' http://www.ebi.ac.uk/efo/EFO_0003153 obsolete_Asian Indian 'obsolete_Asian Indian' SubClassOf 'obsolete class' 'obsolete_Asian Indian' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003152 obsolete_Asian 'obsolete_Asian' SubClassOf 'obsolete class' 'obsolete_Asian' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003155 obsolete_British 'obsolete_British' SubClassOf 'obsolete class' 'obsolete_British' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003154 obsolete_Asian/Pacific Islander 'obsolete_Asian/Pacific Islander' SubClassOf 'obsolete class' 'obsolete_Asian/Pacific Islander' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003157 obsolete_Chinese 'obsolete_Chinese' SubClassOf 'obsolete class' 'obsolete_Chinese' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003156 obsolete_Caucasian 'obsolete_Caucasian' SubClassOf 'obsolete class' 'obsolete_Caucasian' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_90309 Ehlers-Danlos syndrome type 1 'Ehlers-Danlos syndrome type 1' SubClassOf 'Ehlers-Danlos syndrome, classic type' 'Ehlers-Danlos syndrome type 1' SubClassOf 'Ehlers-Danlos syndrome, classic type' http://www.ebi.ac.uk/efo/EFO_0003159 obsolete_European-American 'obsolete_European-American' SubClassOf 'obsolete class' 'obsolete_European-American' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0003158 obsolete_Eastern Indian 'obsolete_Eastern Indian' SubClassOf 'obsolete class' 'obsolete_Eastern Indian' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_352328 MEGDEL syndrome 'MEGDEL syndrome' SubClassOf 'Neurometabolic disease' 'MEGDEL syndrome' SubClassOf '3-methylglutaconic aciduria' 'MEGDEL syndrome' SubClassOf 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement' 'MEGDEL syndrome' SubClassOf 'Syndromic genetic deafness' 'MEGDEL syndrome' SubClassOf 'Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes' 'MEGDEL syndrome' SubClassOf 'Neurometabolic disease' 'MEGDEL syndrome' SubClassOf '3-methylglutaconic aciduria' 'MEGDEL syndrome' SubClassOf 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement' 'MEGDEL syndrome' SubClassOf 'Syndromic genetic deafness' 'MEGDEL syndrome' SubClassOf 'Rare syndromic dyslipidemia' 'MEGDEL syndrome' SubClassOf 'Cerebral organic aciduria' 'MEGDEL syndrome' SubClassOf 'Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes' http://www.orpha.net/ORDO/Orphanet_90308 Klippel-Trénaunay syndrome 'Klippel-Trénaunay syndrome' SubClassOf 'Angioosteohypertrophic syndrome' 'Klippel-Trénaunay syndrome' SubClassOf 'Angioosteohypertrophic syndrome' http://www.orpha.net/ORDO/Orphanet_90307 Parkes Weber syndrome 'Parkes Weber syndrome' SubClassOf 'Angioosteohypertrophic syndrome' 'Parkes Weber syndrome' SubClassOf 'Angioosteohypertrophic syndrome' http://www.orpha.net/ORDO/Orphanet_352333 Congenital ichthyosis - intellectual disability - spastic quadriplegia 'Congenital ichthyosis - intellectual disability - spastic quadriplegia' SubClassOf 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement' 'Congenital ichthyosis - intellectual disability - spastic quadriplegia' SubClassOf 'Neurometabolic disease' 'Congenital ichthyosis - intellectual disability - spastic quadriplegia' SubClassOf 'Autosomal ichthyosis syndrome with prominent neurologics signs' 'Congenital ichthyosis - intellectual disability - spastic quadriplegia' SubClassOf 'Rare syndromic dyslipidemia' 'Congenital ichthyosis - intellectual disability - spastic quadriplegia' SubClassOf 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement' 'Congenital ichthyosis - intellectual disability - spastic quadriplegia' SubClassOf 'Autosomal ichthyosis syndrome with prominent neurologics signs' 'Congenital ichthyosis - intellectual disability - spastic quadriplegia' SubClassOf 'Neurometabolic disease' http://purl.obolibrary.org/obo/CLO_0036870 GM07029 'GM07029' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM07029' SubClassOf 'cultured cell' 'GM07029' SubClassOf 'has_quality' some 'male' http://www.orpha.net/ORDO/Orphanet_90318 Ehlers-Danlos syndrome type 2 'Ehlers-Danlos syndrome type 2' SubClassOf 'Ehlers-Danlos syndrome, classic type' 'Ehlers-Danlos syndrome type 2' SubClassOf 'Ehlers-Danlos syndrome, classic type' http://purl.obolibrary.org/obo/CHEBI_64227 ciglitazone 'ciglitazone' SubClassOf 'has_role' some 'antineoplastic agent' http://www.orpha.net/ORDO/Orphanet_90324 Cockayne syndrome type 3 'Cockayne syndrome type 3' SubClassOf 'Cockayne syndrome' 'Cockayne syndrome type 3' SubClassOf 'Cockayne syndrome' http://www.orpha.net/ORDO/Orphanet_90322 Cockayne syndrome type 2 'Cockayne syndrome type 2' SubClassOf 'Cockayne syndrome' 'Cockayne syndrome type 2' SubClassOf 'Cockayne syndrome' http://www.orpha.net/ORDO/Orphanet_90321 Cockayne syndrome type 1 'Cockayne syndrome type 1' SubClassOf 'Cockayne syndrome' 'Cockayne syndrome type 1' SubClassOf 'Cockayne syndrome' http://purl.obolibrary.org/obo/UBERON_2000851 somite 12 'somite 12' SubClassOf http://purl.obolibrary.org/obo/UBERON_0002329 http://purl.obolibrary.org/obo/UBERON_2000857 somite 4 'somite 4' SubClassOf http://purl.obolibrary.org/obo/UBERON_0002329 http://purl.obolibrary.org/obo/CHEBI_64216 metergoline 'metergoline' SubClassOf 'has_role' some 'serotonergic antagonist' 'metergoline' SubClassOf 'has_role' some 'serotonergic drug' 'metergoline' SubClassOf 'has_role' some 'dopamine agonist' http://www.ebi.ac.uk/efo/EFO_0009620 rib fracture 'rib fracture' SubClassOf 'bone fracture' 'rib fracture' SubClassOf 'bone fracture' http://www.ebi.ac.uk/efo/EFO_0009621 shoulder fracture 'shoulder fracture' SubClassOf 'bone fracture' 'shoulder fracture' SubClassOf 'bone fracture' http://www.ebi.ac.uk/efo/EFO_0009622 fracture of pelvis 'fracture of pelvis' SubClassOf 'bone fracture' 'fracture of pelvis' SubClassOf 'bone fracture' http://www.ebi.ac.uk/efo/EFO_0009623 nose injury 'nose injury' SubClassOf 'head injury' 'nose injury' SubClassOf 'head injury' http://www.orpha.net/ORDO/Orphanet_138041 Pierre Robin syndrome associated with collagen disease 'Pierre Robin syndrome associated with collagen disease' SubClassOf 'Genetic syndromic Pierre Robin syndrome' 'Pierre Robin syndrome associated with collagen disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015319 'Pierre Robin syndrome associated with collagen disease' SubClassOf 'Genetic syndromic Pierre Robin syndrome' 'Pierre Robin syndrome associated with collagen disease' SubClassOf 'disease has feature' some http://purl.obolibrary.org/obo/MONDO_0004603 http://www.orpha.net/ORDO/Orphanet_404568 Dysostosis of genetic origin 'Dysostosis of genetic origin' SubClassOf 'Rare genetic bone development disorder' 'Dysostosis of genetic origin' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 'Dysostosis of genetic origin' SubClassOf 'Rare genetic bone development disorder' 'Dysostosis of genetic origin' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0018234 and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) 'Dysostosis of genetic origin' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018234 http://www.ebi.ac.uk/efo/EFO_0009624 pulmonary alveolitis 'pulmonary alveolitis' SubClassOf 'lung disease' 'pulmonary alveolitis' SubClassOf 'lung disease' http://www.orpha.net/ORDO/Orphanet_165661 Genetic pancreatic disease 'Genetic pancreatic disease' SubClassOf 'has_disease_location' some 'pancreas' http://www.ebi.ac.uk/efo/EFO_0009625 facial pain 'facial pain' SubClassOf 'pain' 'facial pain' SubClassOf 'pain' http://www.ebi.ac.uk/efo/EFO_0009626 pyloric stenosis 'pyloric stenosis' SubClassOf 'stomach disease' 'pyloric stenosis' SubClassOf 'stomach disease' http://www.orpha.net/ORDO/Orphanet_404560 Familial atypical multiple mole melanoma syndrome 'Familial atypical multiple mole melanoma syndrome' SubClassOf 'Genetic skin tumor' 'Familial atypical multiple mole melanoma syndrome' SubClassOf 'Inherited cancer-predisposing syndrome' 'Familial atypical multiple mole melanoma syndrome' SubClassOf 'Genetic skin tumor' http://www.orpha.net/ORDO/Orphanet_165658 Genetic gastro-esophageal disease 'Genetic gastro-esophageal disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015111 'Genetic gastro-esophageal disease' SubClassOf 'has_disease_location' some 'esophagus' 'Genetic gastro-esophageal disease' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0015111 and ('disease has feature' some http://purl.obolibrary.org/obo/MONDO_0021152) 'Genetic gastro-esophageal disease' SubClassOf 'disease has feature' some http://purl.obolibrary.org/obo/MONDO_0021152 http://www.orpha.net/ORDO/Orphanet_138047 Pierre Robin syndrome associated with a chromosomal anomaly 'Pierre Robin syndrome associated with a chromosomal anomaly' SubClassOf 'Genetic syndromic Pierre Robin syndrome' 'Pierre Robin syndrome associated with a chromosomal anomaly' SubClassOf 'Genetic syndromic Pierre Robin syndrome' 'Pierre Robin syndrome associated with a chromosomal anomaly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015319 http://www.ebi.ac.uk/efo/EFO_0009610 cervical spondylosis 'cervical spondylosis' SubClassOf 'skeletal system disease' 'cervical spondylosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003847 'cervical spondylosis' SubClassOf 'skeletal system disease' http://www.ebi.ac.uk/efo/EFO_0009611 orbital fracture 'orbital fracture' SubClassOf 'Skull Fractures' 'orbital fracture' SubClassOf 'Skull Fractures' http://www.ebi.ac.uk/efo/EFO_0009612 jaw fracture 'jaw fracture' SubClassOf 'Skull Fractures' 'jaw fracture' SubClassOf 'bone fracture' 'jaw fracture' SubClassOf 'Skull Fractures' http://www.orpha.net/ORDO/Orphanet_138050 Pierre Robin syndrome associated with branchial archs anomalies 'Pierre Robin syndrome associated with branchial archs anomalies' SubClassOf 'Genetic syndromic Pierre Robin syndrome' 'Pierre Robin syndrome associated with branchial archs anomalies' SubClassOf 'Genetic syndromic Pierre Robin syndrome' 'Pierre Robin syndrome associated with branchial archs anomalies' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015319 http://www.ebi.ac.uk/efo/EFO_0009617 knee fracture 'knee fracture' SubClassOf 'lower extremity fracture' 'knee fracture' SubClassOf 'lower extremity fracture' http://www.ebi.ac.uk/efo/EFO_0009618 foot fracture 'foot fracture' SubClassOf 'lower extremity fracture' 'foot fracture' SubClassOf 'lower extremity fracture' http://www.orpha.net/ORDO/Orphanet_165655 Genetic intestinal disease 'Genetic intestinal disease' SubClassOf 'has_disease_location' some 'intestine' http://www.ebi.ac.uk/efo/EFO_0009619 neuroma 'neuroma' SubClassOf 'nervous system disease' 'neuroma' SubClassOf 'nervous system disease' http://www.ebi.ac.uk/efo/EFO_0009613 fibula fracture 'fibula fracture' SubClassOf 'lower extremity fracture' 'fibula fracture' SubClassOf 'lower extremity fracture' http://www.ebi.ac.uk/efo/EFO_0009614 clavicle fracture 'clavicle fracture' SubClassOf 'bone fracture' 'clavicle fracture' SubClassOf 'bone fracture' http://www.ebi.ac.uk/efo/EFO_0009615 ankle fracture 'ankle fracture' SubClassOf 'lower extremity fracture' 'ankle fracture' SubClassOf 'lower extremity fracture' http://www.ebi.ac.uk/efo/EFO_0009616 finger fracture 'finger fracture' SubClassOf 'upper extremity fracture' 'finger fracture' SubClassOf 'upper extremity fracture' http://www.orpha.net/ORDO/Orphanet_138055 Pierre Robin syndrome associated with bone disease 'Pierre Robin syndrome associated with bone disease' SubClassOf 'Genetic syndromic Pierre Robin syndrome' 'Pierre Robin syndrome associated with bone disease' SubClassOf 'Genetic syndromic Pierre Robin syndrome' 'Pierre Robin syndrome associated with bone disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015319 http://www.orpha.net/ORDO/Orphanet_139393 Syndromic craniosynostosis 'Syndromic craniosynostosis' SubClassOf 'Craniosynostosis' 'Syndromic craniosynostosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Syndromic craniosynostosis' EquivalentTo 'Craniosynostosis' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021127) 'Syndromic craniosynostosis' SubClassOf 'Craniosynostosis' http://www.ebi.ac.uk/efo/EFO_0009644 neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy 'neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003847 http://www.ebi.ac.uk/efo/EFO_0009645 neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 'neurodevelopmental disorder with or without anomalies of the brain, eye, or heart' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003847 http://www.orpha.net/ORDO/Orphanet_139390 Isolated craniosynostosis 'Isolated craniosynostosis' SubClassOf 'Craniosynostosis' 'Isolated craniosynostosis' SubClassOf 'Craniosynostosis' 'Isolated craniosynostosis' EquivalentTo 'Craniosynostosis' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021128) 'Isolated craniosynostosis' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021128 http://www.ebi.ac.uk/efo/EFO_0008317 very low density lipoprotein cholesterol measurement 'very low density lipoprotein cholesterol measurement' SubClassOf 'is_about' some 'lipid' http://www.orpha.net/ORDO/Orphanet_139396 X-linked cerebral adrenoleukodystrophy 'X-linked cerebral adrenoleukodystrophy' SubClassOf 'Syndromic neurometabolic disease with X-linked intellectual disability' 'X-linked cerebral adrenoleukodystrophy' SubClassOf 'X-linked adrenoleukodystrophy' 'X-linked cerebral adrenoleukodystrophy' SubClassOf 'Syndromic neurometabolic disease with X-linked intellectual disability' 'X-linked cerebral adrenoleukodystrophy' SubClassOf 'X-linked adrenoleukodystrophy' http://www.orpha.net/ORDO/Orphanet_139399 Adrenomyeloneuropathy 'Adrenomyeloneuropathy' SubClassOf 'X-linked adrenoleukodystrophy' 'Adrenomyeloneuropathy' SubClassOf 'Rare hereditary metabolic disease with peripheral neuropathy' 'Adrenomyeloneuropathy' SubClassOf 'X-linked cerebral adrenoleukodystrophy' 'Adrenomyeloneuropathy' SubClassOf 'Rare hereditary metabolic disease with peripheral neuropathy' http://www.orpha.net/ORDO/Orphanet_404538 X-linked distal hereditary motor neuropathy 'X-linked distal hereditary motor neuropathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000425 'X-linked distal hereditary motor neuropathy' SubClassOf 'Distal hereditary motor neuropathy' http://www.ebi.ac.uk/efo/EFO_0007001 dehydroepiandrosterone sulphate measurement 'dehydroepiandrosterone sulphate measurement' SubClassOf 'is_about' some 'dehydroepiandrosterone sulfate' http://www.ebi.ac.uk/efo/EFO_0008333 T wave amplitude 'T wave amplitude' SubClassOf 'is_about' some 'cardiovascular system' http://www.ebi.ac.uk/efo/EFO_0009664 disease of orbital region 'disease of orbital region' SubClassOf 'head and neck disorder' 'disease of orbital region' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044987 'disease of orbital region' SubClassOf 'head and neck disorder' http://www.ebi.ac.uk/efo/EFO_0007000 Gleason score measurement 'Gleason score measurement' SubClassOf 'is_about' some 'prostate carcinoma' http://www.ebi.ac.uk/efo/EFO_0008334 TpTe measurement 'TpTe measurement' SubClassOf 'is_about' some 'cardiovascular system' http://www.ebi.ac.uk/efo/EFO_0009665 disorder of patella 'disorder of patella' SubClassOf 'bone disease' 'disorder of patella' SubClassOf 'bone disease' http://www.ebi.ac.uk/efo/EFO_0008335 ventricular repolarisation duration measurement 'ventricular repolarisation duration measurement' SubClassOf 'is_about' some 'cardiovascular system' http://www.ebi.ac.uk/efo/EFO_0009666 enthesopathy 'enthesopathy' SubClassOf 'musculoskeletal system disease' 'enthesopathy' SubClassOf 'connective tissue disease' 'enthesopathy' SubClassOf 'musculoskeletal system disease' http://www.ebi.ac.uk/efo/EFO_0009667 eustachian tube disease 'eustachian tube disease' SubClassOf 'auditory system disease' 'eustachian tube disease' SubClassOf 'auditory system disease' 'eustachian tube disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003276 http://www.orpha.net/ORDO/Orphanet_3088 Revesz syndrome 'Revesz syndrome' SubClassOf 'Rare constitutional medullar aplasia' 'Revesz syndrome' SubClassOf 'Retinal dystrophy' 'Revesz syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021231 'Revesz syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021581 'Revesz syndrome' SubClassOf 'Retinal dystrophy' 'Revesz syndrome' SubClassOf 'Dyskeratosis congenita' http://www.orpha.net/ORDO/Orphanet_38874 Dihydropyrimidinuria 'Dihydropyrimidinuria' SubClassOf 'Disorder of pyrimidine metabolism' 'Dihydropyrimidinuria' SubClassOf 'Disorder of pyrimidine metabolism' http://www.ebi.ac.uk/efo/EFO_0007005 free androgen index 'free androgen index' SubClassOf 'is_about' some 'androgen' http://www.ebi.ac.uk/efo/EFO_0009660 anus disease 'anus disease' SubClassOf 'intestinal disease' 'anus disease' SubClassOf 'rectal disease' 'anus disease' SubClassOf 'has_disease_location' some ('anal region' or ('part_of' some 'anal region')) 'anus disease' SubClassOf 'intestinal disease' http://www.orpha.net/ORDO/Orphanet_3087 Retinohepatoendocrinologic syndrome 'Retinohepatoendocrinologic syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015126 http://www.ebi.ac.uk/efo/EFO_0009661 bronchitis 'bronchitis' SubClassOf 'bronchial disease' 'bronchitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021925 'bronchitis' SubClassOf 'bronchial disease' http://www.ebi.ac.uk/efo/EFO_0007004 progesterone measurement 'progesterone measurement' SubClassOf 'is_about' some 'progesterone' http://www.orpha.net/ORDO/Orphanet_3086 Autosomal dominant vitreoretinochoroidopathy 'Autosomal dominant vitreoretinochoroidopathy' SubClassOf 'Vitreoretinal degeneration' 'Autosomal dominant vitreoretinochoroidopathy' SubClassOf 'Vitreoretinal degeneration' http://purl.obolibrary.org/obo/CHEBI_60175 5-hydroxylysine '5-hydroxylysine' SubClassOf 'amino acid' '5-hydroxylysine' SubClassOf 'amino acid' http://www.ebi.ac.uk/efo/EFO_0007003 prolactin measurement 'prolactin measurement' SubClassOf 'is_about' some 'hormone' http://www.ebi.ac.uk/efo/EFO_0009662 common wart 'common wart' SubClassOf 'benign neoplasm' 'common wart' SubClassOf 'viral disease' 'common wart' SubClassOf 'skin neoplasm' 'common wart' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024294 'common wart' SubClassOf 'viral disease' 'common wart' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024666 http://www.orpha.net/ORDO/Orphanet_3085 Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism 'Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism' SubClassOf 'Syndromic retinitis pigmentosa' 'Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism' SubClassOf 'Syndromic genetic deafness' 'Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism' SubClassOf 'Syndromic retinitis pigmentosa' 'Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism' SubClassOf 'Syndromic genetic deafness' http://www.ebi.ac.uk/efo/EFO_0007002 luteinizing hormone measurement 'luteinizing hormone measurement' SubClassOf 'is_about' some 'protein' 'luteinizing hormone measurement' SubClassOf 'is_about' some 'hormone' http://www.ebi.ac.uk/efo/EFO_0009663 disease of genitourinary system 'disease of genitourinary system' SubClassOf 'disease' 'disease of genitourinary system' SubClassOf 'has_disease_location' some ('genitourinary system' or ('part_of' some 'genitourinary system')) 'disease of genitourinary system' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021199 'disease of genitourinary system' SubClassOf 'disease' http://www.ebi.ac.uk/efo/EFO_0007009 skin pigmentation measurement 'skin pigmentation measurement' SubClassOf 'is_about' some 'skin pigmentation' http://www.ebi.ac.uk/efo/EFO_0007008 allergy measurement 'allergy measurement' SubClassOf 'is_about' some 'allergy' http://www.ebi.ac.uk/efo/EFO_0007006 depressive symptom measurement 'depressive symptom measurement' SubClassOf 'is_about' some 'mental or behavioural disorder' http://www.ebi.ac.uk/efo/EFO_0009668 external ear disease 'external ear disease' SubClassOf 'auditory system disease' 'external ear disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021205 'external ear disease' SubClassOf 'has_disease_location' some ('external ear' or ('part_of' some 'external ear')) 'external ear disease' SubClassOf 'auditory system disease' http://www.ebi.ac.uk/efo/EFO_0009669 flatulence 'flatulence' SubClassOf 'digestive system disease' 'flatulence' SubClassOf 'digestive system disease' http://purl.obolibrary.org/obo/CLO_0013924 GM17219 'GM17219' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17219' SubClassOf 'cultured cell' 'GM17219' SubClassOf 'has_quality' some 'male' http://purl.obolibrary.org/obo/PO_0020136 ear inflorescence 'ear inflorescence' SubClassOf 'pistillate inflorescence' 'ear inflorescence' SubClassOf 'pistillate inflorescence' http://www.orpha.net/ORDO/Orphanet_3082 Intellectual disability - polydactyly - uncombable hair 'Intellectual disability - polydactyly - uncombable hair' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Intellectual disability - polydactyly - uncombable hair' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Intellectual disability - polydactyly - uncombable hair' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Intellectual disability - polydactyly - uncombable hair' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 http://www.ebi.ac.uk/efo/EFO_0009670 gingival disease 'gingival disease' SubClassOf 'mouth disease' 'gingival disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002635 'gingival disease' SubClassOf 'mouth disease' 'gingival disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044992 http://www.orpha.net/ORDO/Orphanet_3080 Intellectual disability, Wolff type 'Intellectual disability, Wolff type' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Intellectual disability, Wolff type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Intellectual disability, Wolff type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Intellectual disability, Wolff type' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/PO_0020132 columella root cap cell 'columella root cap cell' SubClassOf 'native plant cell' 'columella root cap cell' SubClassOf 'native plant cell' http://www.ebi.ac.uk/efo/EFO_0008324 response to sulfasalazine 'response to sulfasalazine' SubClassOf 'has_input' some 'sulfasalazine' http://www.ebi.ac.uk/efo/EFO_0009655 abnormal sample 'abnormal sample' SubClassOf 'has_quality' some 'abnormal' http://www.orpha.net/ORDO/Orphanet_3098 Rhizomelic syndrome, Urbach type 'Rhizomelic syndrome, Urbach type' SubClassOf 'Mesomelic and rhizo-mesomelic dysplasia' 'Rhizomelic syndrome, Urbach type' SubClassOf 'Mesomelic and rhizo-mesomelic dysplasia' http://www.ebi.ac.uk/efo/EFO_0009650 hyperproinsulinemia 'hyperproinsulinemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003847 http://www.orpha.net/ORDO/Orphanet_3097 Meacham syndrome 'Meacham syndrome' SubClassOf 'Syndrome with disorder of sex development of gynecological interest' 'Meacham syndrome' SubClassOf 'Syndrome with 46,XY disorder of sex development' 'Meacham syndrome' SubClassOf 'Syndrome with disorder of sex development of gynecological interest' 'Meacham syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015846 'Meacham syndrome' SubClassOf 'Syndrome with 46,XY disorder of sex development' http://www.ebi.ac.uk/efo/EFO_0008320 white matter volume measurement 'white matter volume measurement' SubClassOf 'is_about' some 'brain' 'white matter volume measurement' SubClassOf 'is_about' some 'volume' http://www.orpha.net/ORDO/Orphanet_3095 Atypical Rett syndrome 'Atypical Rett syndrome' SubClassOf 'Rare pervasive developmental disorder' 'Atypical Rett syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Atypical Rett syndrome' SubClassOf 'Monogenic disease with epilepsy' 'Atypical Rett syndrome' SubClassOf 'Motor stereotypies' 'Atypical Rett syndrome' SubClassOf 'Rett syndrome' http://purl.obolibrary.org/obo/CLO_0013943 GM17145 'GM17145' SubClassOf 'cultured cell' 'GM17145' SubClassOf 'has_quality' some 'female' 'GM17145' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/CLO_0013942 GM17146 'GM17146' SubClassOf 'cultured cell' 'GM17146' SubClassOf 'has_quality' some 'female' 'GM17146' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/CLO_0013941 GM17147 'GM17147' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17147' SubClassOf 'has_quality' some 'female' 'GM17147' SubClassOf 'cultured cell' http://purl.obolibrary.org/obo/CLO_0013940 GM17148 'GM17148' SubClassOf 'has_quality' some 'female' 'GM17148' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17148' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0009657 acute pharyngitis 'acute pharyngitis' SubClassOf 'respiratory system disease' 'acute pharyngitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002258 'acute pharyngitis' SubClassOf 'respiratory system disease' 'acute pharyngitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020683 http://www.ebi.ac.uk/efo/EFO_0009658 adverse effect 'adverse effect' SubClassOf 'disease' 'adverse effect' SubClassOf 'disease' http://www.ebi.ac.uk/efo/EFO_0008328 chronotype measurement 'chronotype measurement' SubClassOf 'is_about' some 'circadian rhythm' http://www.ebi.ac.uk/efo/EFO_0009659 aneurysm 'aneurysm' SubClassOf 'vascular disease' 'aneurysm' SubClassOf 'vascular disease' 'aneurysm' SubClassOf 'has_disease_location' some ('artery' or ('part_of' some 'artery')) http://purl.obolibrary.org/obo/CLO_0013939 GM17141 'GM17141' SubClassOf 'has_quality' some 'female' 'GM17141' SubClassOf 'cultured cell' 'GM17141' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/CLO_0013938 GM17142 'GM17142' SubClassOf 'has_quality' some 'female' 'GM17142' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17142' SubClassOf 'cultured cell' http://purl.obolibrary.org/obo/CLO_0013937 GM17143 'GM17143' SubClassOf 'has_quality' some 'female' 'GM17143' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17143' SubClassOf 'cultured cell' http://purl.obolibrary.org/obo/CLO_0013936 GM17144 'GM17144' SubClassOf 'cultured cell' 'GM17144' SubClassOf 'has_quality' some 'female' 'GM17144' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/CLO_0013935 GM17140 'GM17140' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17140' SubClassOf 'has_quality' some 'female' 'GM17140' SubClassOf 'cultured cell' http://purl.obolibrary.org/obo/PO_0020127 primary root 'primary root' SubClassOf 'root' 'primary root' SubClassOf 'root' http://purl.obolibrary.org/obo/PO_0020126 tassel inflorescence 'tassel inflorescence' SubClassOf 'staminate inflorescence' 'tassel inflorescence' SubClassOf 'staminate inflorescence' http://purl.obolibrary.org/obo/PO_0020124 root stele 'root stele' SubClassOf 'part_of' some 'root structure' http://purl.obolibrary.org/obo/PO_0020121 lateral root 'lateral root' SubClassOf 'root' 'lateral root' SubClassOf 'root' http://www.ebi.ac.uk/efo/EFO_0008355 dietary heme iron intake measurement 'dietary heme iron intake measurement' SubClassOf 'diet measurement' 'dietary heme iron intake measurement' SubClassOf 'diet measurement' http://www.ebi.ac.uk/efo/EFO_0009686 respiratory failure 'respiratory failure' SubClassOf 'lung disease' 'respiratory failure' SubClassOf 'lung disease' http://www.ebi.ac.uk/efo/EFO_0008356 dihomo-gamma-linoleic acid measurement 'dihomo-gamma-linoleic acid measurement' SubClassOf 'fatty acid measurement' 'dihomo-gamma-linoleic acid measurement' SubClassOf 'fatty acid measurement' http://www.ebi.ac.uk/efo/EFO_0009687 somatoform disorder 'somatoform disorder' SubClassOf 'mental or behavioural disorder' 'somatoform disorder' SubClassOf 'mental or behavioural disorder' 'somatoform disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002025 http://www.ebi.ac.uk/efo/EFO_0007021 Lewy body measurement 'Lewy body measurement' SubClassOf 'is_about' some 'brain' http://www.ebi.ac.uk/efo/EFO_0008357 docosatetranoic acid measurement 'docosatetranoic acid measurement' SubClassOf 'fatty acid measurement' 'docosatetranoic acid measurement' SubClassOf 'fatty acid measurement' http://www.ebi.ac.uk/efo/EFO_0009688 stomatitis 'stomatitis' SubClassOf 'mouth disease' 'stomatitis' SubClassOf 'mouth disease' 'stomatitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044992 'stomatitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021166 http://www.ebi.ac.uk/efo/EFO_0008358 dorsolateral prefrontal cortex functional measurement 'dorsolateral prefrontal cortex functional measurement' SubClassOf 'functional brain measurement' 'dorsolateral prefrontal cortex functional measurement' SubClassOf 'functional brain measurement' http://www.ebi.ac.uk/efo/EFO_0009689 urethral disease 'urethral disease' SubClassOf 'urinary system disease' 'urethral disease' SubClassOf 'urinary system disease' 'urethral disease' SubClassOf 'has_disease_location' some ('urethra' or ('part_of' some 'urethra')) http://purl.obolibrary.org/obo/CHEBI_35195 surfactant role 'surfactant role' SubClassOf 'inheres_in' some 'chemical entity' http://www.ebi.ac.uk/efo/EFO_0008351 amyloid deposition measurement 'amyloid deposition measurement' SubClassOf 'measurement' 'amyloid deposition measurement' SubClassOf 'measurement' http://www.ebi.ac.uk/efo/EFO_0009682 pregnancy disorder 'pregnancy disorder' SubClassOf 'female reproductive system disease' 'pregnancy disorder' SubClassOf 'female reproductive system disease' http://www.ebi.ac.uk/efo/EFO_0008352 C9orf72 mutation status 'C9orf72 mutation status' SubClassOf 'measurement' 'C9orf72 mutation status' SubClassOf 'measurement' http://www.ebi.ac.uk/efo/EFO_0009683 puerperal disorder 'puerperal disorder' SubClassOf 'pregnancy disorder' 'puerperal disorder' SubClassOf 'pregnancy disorder' http://www.ebi.ac.uk/efo/EFO_0008353 cellular adhesion molecule measurement 'cellular adhesion molecule measurement' SubClassOf 'blood protein measurement' 'cellular adhesion molecule measurement' SubClassOf 'blood protein measurement' http://www.ebi.ac.uk/efo/EFO_0009684 quadriplegia 'quadriplegia' SubClassOf 'central nervous system disease' 'quadriplegia' SubClassOf 'central nervous system disease' http://www.ebi.ac.uk/efo/EFO_0008354 cognitive function measurement 'cognitive function measurement' SubClassOf 'measurement' 'cognitive function measurement' SubClassOf 'measurement' 'cognitive function measurement' SubClassOf 'is_about' some 'cognition' http://www.ebi.ac.uk/efo/EFO_0009685 rectal disease 'rectal disease' SubClassOf 'intestinal disease' 'rectal disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024634 'rectal disease' SubClassOf 'intestinal disease' 'rectal disease' SubClassOf 'has_disease_location' some ('rectum' or ('part_of' some 'rectum')) http://www.ebi.ac.uk/efo/EFO_0008359 eicosadienoic acid measurement 'eicosadienoic acid measurement' SubClassOf 'fatty acid measurement' 'eicosadienoic acid measurement' SubClassOf 'fatty acid measurement' http://www.orpha.net/ORDO/Orphanet_404584 Rare genetic bone development disorder 'Rare genetic bone development disorder' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Rare genetic bone development disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021147 'Rare genetic bone development disorder' SubClassOf 'has_disease_location' some ('bone' or ('part_of' some 'bone')) http://www.orpha.net/ORDO/Orphanet_320391 Autosomal recessive spastic paraplegia type 46 'Autosomal recessive spastic paraplegia type 46' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Autosomal recessive spastic paraplegia type 46' SubClassOf 'Autosomal recessive complex spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_320396 Autosomal recessive spastic paraplegia type 45 'Autosomal recessive spastic paraplegia type 45' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Autosomal recessive spastic paraplegia type 45' SubClassOf 'Autosomal recessive complex spastic paraplegia' http://www.ebi.ac.uk/efo/EFO_0009690 urinary system disease 'urinary system disease' SubClassOf 'disease' 'urinary system disease' SubClassOf 'has_disease_location' some ('renal system' or ('part_of' some 'renal system')) 'urinary system disease' SubClassOf 'disease' 'urinary system disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021199 http://www.ebi.ac.uk/efo/EFO_0008360 environmental exposure measurement 'environmental exposure measurement' SubClassOf 'measurement' 'environmental exposure measurement' SubClassOf 'measurement' http://www.ebi.ac.uk/efo/EFO_0009691 vestibular disease 'vestibular disease' SubClassOf 'inner ear disease' 'vestibular disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024417 'vestibular disease' SubClassOf 'inner ear disease' http://www.ebi.ac.uk/efo/EFO_0008361 environmental tobacco smoke exposure measurement 'environmental tobacco smoke exposure measurement' SubClassOf 'environmental exposure measurement' 'environmental tobacco smoke exposure measurement' SubClassOf 'environmental exposure measurement' http://www.ebi.ac.uk/efo/EFO_0009692 voice disorders 'voice disorders' SubClassOf 'laryngeal disease' 'voice disorders' SubClassOf 'laryngeal disease' http://www.ebi.ac.uk/efo/EFO_0009675 melanocytic nevus 'melanocytic nevus' SubClassOf 'nevus' 'melanocytic nevus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021583 'melanocytic nevus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021440 'melanocytic nevus' SubClassOf 'nevus' http://www.ebi.ac.uk/efo/EFO_0009676 musculoskeletal system disease 'musculoskeletal system disease' SubClassOf 'disease' 'musculoskeletal system disease' SubClassOf 'disease' 'musculoskeletal system disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021199 http://www.ebi.ac.uk/efo/EFO_0007010 drug use measurement 'drug use measurement' SubClassOf 'is_about' some 'drug' http://www.ebi.ac.uk/efo/EFO_0009677 occlusion precerebral artery 'occlusion precerebral artery' SubClassOf 'cerebrovascular disorder' 'occlusion precerebral artery' SubClassOf 'cerebrovascular disorder' http://www.orpha.net/ORDO/Orphanet_37553 Cardiodysrhythmic potassium-sensitive periodic paralysis 'Cardiodysrhythmic potassium-sensitive periodic paralysis' SubClassOf 'Genetic cardiac rhythm disease' 'Cardiodysrhythmic potassium-sensitive periodic paralysis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016122 'Cardiodysrhythmic potassium-sensitive periodic paralysis' SubClassOf 'muscular channelopathy' 'Cardiodysrhythmic potassium-sensitive periodic paralysis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000995 'Cardiodysrhythmic potassium-sensitive periodic paralysis' SubClassOf 'Familial long QT syndrome' http://www.ebi.ac.uk/efo/EFO_0009678 paralytic strabismus 'paralytic strabismus' SubClassOf 'ocular motility disease' 'paralytic strabismus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003432 'paralytic strabismus' SubClassOf 'ocular motility disease' http://www.ebi.ac.uk/efo/EFO_0009671 hereditary ataxia 'hereditary ataxia' SubClassOf 'neurodegenerative disease' 'hereditary ataxia' SubClassOf 'neurodegenerative disease' 'hereditary ataxia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000437 'hereditary ataxia' SubClassOf 'Genetic neurodegenerative disease' http://www.ebi.ac.uk/efo/EFO_0009672 inner ear disease 'inner ear disease' SubClassOf 'auditory system disease' 'inner ear disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021205 'inner ear disease' SubClassOf 'auditory system disease' 'inner ear disease' SubClassOf 'has_disease_location' some ('internal ear' or ('part_of' some 'internal ear')) http://www.ebi.ac.uk/efo/EFO_0009673 laryngeal disease 'laryngeal disease' SubClassOf 'respiratory system disease' 'laryngeal disease' SubClassOf 'has_disease_location' some ('larynx' or ('part_of' some 'larynx')) 'laryngeal disease' SubClassOf 'respiratory system disease' 'laryngeal disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004867 http://www.ebi.ac.uk/efo/EFO_0009674 lens disease 'lens disease' SubClassOf 'eye disease' 'lens disease' SubClassOf 'eye disease' 'lens disease' SubClassOf 'has_disease_location' some ('lens of camera-type eye' or ('part_of' some 'lens of camera-type eye')) http://purl.obolibrary.org/obo/CLO_0013921 GM17218 'GM17218' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17218' SubClassOf 'has_quality' some 'female' 'GM17218' SubClassOf 'cultured cell' http://www.orpha.net/ORDO/Orphanet_404577 Genetic syndrome with limb malformations as a major feature 'Genetic syndrome with limb malformations as a major feature' SubClassOf 'Genetic congenital limb malformation' 'Genetic syndrome with limb malformations as a major feature' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Genetic syndrome with limb malformations as a major feature' SubClassOf 'Genetic congenital limb malformation' 'Non-syndromic limb malformation' DisjointWith 'Genetic syndrome with limb malformations as a major feature' http://www.ebi.ac.uk/efo/EFO_0009679 paraplegia 'paraplegia' SubClassOf 'palsy' 'paraplegia' SubClassOf 'palsy' http://www.orpha.net/ORDO/Orphanet_404574 Genetic syndrome with limb reduction defects 'Genetic syndrome with limb reduction defects' SubClassOf 'Genetic syndrome with limb malformations as a major feature' 'Genetic syndrome with limb reduction defects' SubClassOf 'Genetic syndrome with limb malformations as a major feature' 'Genetic syndrome with limb reduction defects' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018235 http://www.orpha.net/ORDO/Orphanet_404571 Dysostosis of genetic origin with limb anomaly as a major feature 'Dysostosis of genetic origin with limb anomaly as a major feature' SubClassOf 'Dysostosis of genetic origin' 'Dysostosis of genetic origin with limb anomaly as a major feature' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018235 'Dysostosis of genetic origin with limb anomaly as a major feature' SubClassOf 'Dysostosis of genetic origin' http://www.orpha.net/ORDO/Orphanet_320380 Autosomal recessive spastic paraplegia type 54 'Autosomal recessive spastic paraplegia type 54' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Autosomal recessive spastic paraplegia type 54' SubClassOf 'Autosomal recessive complex spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_320385 Autosomal recessive spastic paraplegia type 49 'Autosomal recessive spastic paraplegia type 49' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Autosomal recessive spastic paraplegia type 49' SubClassOf 'Autosomal recessive complex spastic paraplegia' http://purl.obolibrary.org/obo/PO_0020147 root apical meristem 'root apical meristem' SubClassOf 'part_of' some 'root structure' http://www.ebi.ac.uk/efo/EFO_0009680 pleural empyema 'pleural empyema' SubClassOf 'lower respiratory tract disease' 'pleural empyema' SubClassOf 'lower respiratory tract disease' 'pleural empyema' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015118 'pleural empyema' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002037 http://purl.obolibrary.org/obo/PO_0020144 apical meristem 'apical meristem' SubClassOf 'shoot component' 'apical meristem' SubClassOf 'shoot component' http://www.ebi.ac.uk/efo/EFO_0008350 alpha-linoleic acid measurement 'alpha-linoleic acid measurement' SubClassOf 'fatty acid measurement' 'alpha-linoleic acid measurement' SubClassOf 'fatty acid measurement' http://www.ebi.ac.uk/efo/EFO_0009681 post term pregnancy 'post term pregnancy' SubClassOf 'pregnancy disorder' 'post term pregnancy' SubClassOf 'pregnancy disorder' http://purl.obolibrary.org/obo/PO_0020141 stem node 'stem node' SubClassOf 'stem' 'stem node' SubClassOf 'stem' http://www.ebi.ac.uk/efo/EFO_0008377 mosquito bite reaction itch intensity measurement 'mosquito bite reaction itch intensity measurement' SubClassOf 'mosquito bite measurement' 'mosquito bite reaction itch intensity measurement' SubClassOf 'mosquito bite measurement' http://www.orpha.net/ORDO/Orphanet_3047 Blepharophimosis-intellectual disability syndrome, SBBYS type 'Blepharophimosis-intellectual disability syndrome, SBBYS type' SubClassOf 'Syndromic hypothyroidism' 'Blepharophimosis-intellectual disability syndrome, SBBYS type' SubClassOf 'Blepharophimosis-intellectual disability syndrome' 'Blepharophimosis-intellectual disability syndrome, SBBYS type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000734 'Blepharophimosis-intellectual disability syndrome, SBBYS type' SubClassOf 'Syndromic hypothyroidism' http://www.ebi.ac.uk/efo/EFO_0008378 mosquito bite reaction size measurement 'mosquito bite reaction size measurement' SubClassOf 'mosquito bite measurement' 'mosquito bite reaction size measurement' SubClassOf 'mosquito bite measurement' http://www.ebi.ac.uk/efo/EFO_0008379 P wave terminal force measurement 'P wave terminal force measurement' SubClassOf 'electrocardiography' 'P wave terminal force measurement' SubClassOf 'electrocardiography' http://www.ebi.ac.uk/efo/EFO_0007042 polychlorinated biphenyls measurement 'polychlorinated biphenyls measurement' SubClassOf 'is_about' some 'polychlorinated biphenyls' http://www.orpha.net/ORDO/Orphanet_102009 Classic lissencephaly 'Classic lissencephaly' SubClassOf 'Lissencephaly' 'Classic lissencephaly' SubClassOf 'Lissencephaly' http://www.orpha.net/ORDO/Orphanet_3044 Intellectual disability - dysmorphism - hypogonadism - diabetes mellitus 'Intellectual disability - dysmorphism - hypogonadism - diabetes mellitus' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Intellectual disability - dysmorphism - hypogonadism - diabetes mellitus' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Intellectual disability - dysmorphism - hypogonadism - diabetes mellitus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Intellectual disability - dysmorphism - hypogonadism - diabetes mellitus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 http://www.ebi.ac.uk/efo/EFO_0008373 left ventricular ejection fraction measurement 'left ventricular ejection fraction measurement' SubClassOf 'ejection fraction measurement' 'left ventricular ejection fraction measurement' SubClassOf 'ejection fraction measurement' 'left ventricular ejection fraction measurement' SubClassOf 'is_about' some 'heart left ventricle' http://www.ebi.ac.uk/efo/EFO_0008374 liver amyloid deposition measurement 'liver amyloid deposition measurement' SubClassOf 'amyloid deposition measurement' 'liver amyloid deposition measurement' SubClassOf 'is_about' some 'liver' 'liver amyloid deposition measurement' SubClassOf 'amyloid deposition measurement' http://www.orpha.net/ORDO/Orphanet_3042 Intellectual disability - cataracts - calcified pinnae - myopathy 'Intellectual disability - cataracts - calcified pinnae - myopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Intellectual disability - cataracts - calcified pinnae - myopathy' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://www.ebi.ac.uk/efo/EFO_0008375 macula measurement 'macula measurement' SubClassOf 'measurement' 'macula measurement' SubClassOf 'is_about' some 'eye' http://www.orpha.net/ORDO/Orphanet_3041 Intellectual disability - balding - patella luxation - acromicria 'Intellectual disability - balding - patella luxation - acromicria' SubClassOf 'Acromelic dysplasia' 'Intellectual disability - balding - patella luxation - acromicria' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Intellectual disability - balding - patella luxation - acromicria' SubClassOf 'Acromelic dysplasia' 'Intellectual disability - balding - patella luxation - acromicria' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Intellectual disability - balding - patella luxation - acromicria' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Intellectual disability - balding - patella luxation - acromicria' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Intellectual disability - balding - patella luxation - acromicria' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 http://www.ebi.ac.uk/efo/EFO_0008376 mosquito bite measurement 'mosquito bite measurement' SubClassOf 'measurement' 'mosquito bite measurement' SubClassOf 'measurement' http://www.orpha.net/ORDO/Orphanet_75857 6q terminal deletion syndrome '6q terminal deletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 6' '6q terminal deletion syndrome' SubClassOf 'Syndromic anorectal malformation' '6q terminal deletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 6' '6q terminal deletion syndrome' SubClassOf 'Syndromic anorectal malformation' http://www.orpha.net/ORDO/Orphanet_75858 MORM syndrome 'MORM syndrome' SubClassOf 'Retinal dystrophy' 'MORM syndrome' SubClassOf 'Syndromic obesity' 'MORM syndrome' SubClassOf 'Retinal dystrophy' 'MORM syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'MORM syndrome' SubClassOf 'Syndromic obesity' http://www.orpha.net/ORDO/Orphanet_99832 Resistance to thyrotropin-releasing hormone syndrome 'Resistance to thyrotropin-releasing hormone syndrome' SubClassOf 'Central congenital hypothyroidism' 'Resistance to thyrotropin-releasing hormone syndrome' SubClassOf 'Central congenital hypothyroidism' http://www.ebi.ac.uk/efo/EFO_0008380 perceived unattractiveness to mosquitos measurement 'perceived unattractiveness to mosquitos measurement' SubClassOf 'mosquito bite measurement' 'perceived unattractiveness to mosquitos measurement' SubClassOf 'mosquito bite measurement' http://www.ebi.ac.uk/efo/EFO_0008381 total cortical area measurement 'total cortical area measurement' SubClassOf 'brain measurement' 'total cortical area measurement' SubClassOf 'brain measurement' 'total cortical area measurement' SubClassOf 'is_about' some 'cerebral cortex' http://www.ebi.ac.uk/efo/EFO_0008382 TP53 mutation status 'TP53 mutation status' SubClassOf 'measurement' 'TP53 mutation status' SubClassOf 'measurement' http://www.ebi.ac.uk/efo/EFO_0008383 treatment outcome measurement 'treatment outcome measurement' SubClassOf 'measurement' 'treatment outcome measurement' SubClassOf 'measurement' http://www.ebi.ac.uk/efo/EFO_0007052 antisocial behaviour measurement 'antisocial behaviour measurement' SubClassOf 'is_about' some 'mental or behavioural disorder' 'antisocial behaviour measurement' SubClassOf 'is_about' some 'anti-social behavior' http://www.ebi.ac.uk/efo/EFO_0008366 IgG isotype profile measurement 'IgG isotype profile measurement' SubClassOf 'serum IgG measurement' 'IgG isotype profile measurement' SubClassOf 'serum IgG measurement' http://www.ebi.ac.uk/efo/EFO_0008367 infant cerebrospinal fluid volume measurement 'infant cerebrospinal fluid volume measurement' SubClassOf 'cerebrospinal fluid volume measurement' 'infant cerebrospinal fluid volume measurement' SubClassOf 'cerebrospinal fluid volume measurement' 'infant cerebrospinal fluid volume measurement' SubClassOf 'is_about' some 'cerebrospinal fluid' http://www.ebi.ac.uk/efo/EFO_0009698 gestational blood glucose measurement 'gestational blood glucose measurement' SubClassOf 'glucose measurement' 'gestational blood glucose measurement' SubClassOf 'is_about' some 'gestational diabetes' 'gestational blood glucose measurement' SubClassOf 'glucose measurement' 'gestational blood glucose measurement' SubClassOf 'is_about' some 'pregnancy' http://www.orpha.net/ORDO/Orphanet_3057 Monoamine oxidase A deficiency 'Monoamine oxidase A deficiency' SubClassOf 'Syndromic neurometabolic disease with X-linked intellectual disability' 'Monoamine oxidase A deficiency' SubClassOf 'Disorder of neurotransmitter metabolism and transport' 'Monoamine oxidase A deficiency' SubClassOf 'Neurometabolic disease' 'Monoamine oxidase A deficiency' SubClassOf 'Syndromic neurometabolic disease with X-linked intellectual disability' 'Monoamine oxidase A deficiency' SubClassOf 'Disorder of neurotransmitter metabolism and transport' 'Monoamine oxidase A deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020605 'Monoamine oxidase A deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004736 'Monoamine oxidase A deficiency' SubClassOf 'Cerebral organic aciduria' http://www.ebi.ac.uk/efo/EFO_0008368 infant grey matter volume measurement 'infant grey matter volume measurement' SubClassOf 'grey matter volume measurement' 'infant grey matter volume measurement' SubClassOf 'grey matter volume measurement' 'infant grey matter volume measurement' SubClassOf 'is_about' some 'brain' http://www.ebi.ac.uk/efo/EFO_0009699 foot muscle strength measurement 'foot muscle strength measurement' SubClassOf 'muscle measurement' 'foot muscle strength measurement' SubClassOf 'muscle measurement' http://www.ebi.ac.uk/efo/EFO_0008369 infant intracranial volume measurement 'infant intracranial volume measurement' SubClassOf 'intracranial volume measurement' 'infant intracranial volume measurement' SubClassOf 'is_about' some 'brain' 'infant intracranial volume measurement' SubClassOf 'intracranial volume measurement' http://www.ebi.ac.uk/efo/EFO_0008362 farm exposure measurement 'farm exposure measurement' SubClassOf 'environmental exposure measurement' 'farm exposure measurement' SubClassOf 'environmental exposure measurement' http://www.ebi.ac.uk/efo/EFO_0009693 thiopurine metabolite measurement 'thiopurine metabolite measurement' SubClassOf 'measurement' 'thiopurine metabolite measurement' SubClassOf 'is_about' some 'thiopurines' 'thiopurine metabolite measurement' SubClassOf 'measurement' http://www.ebi.ac.uk/efo/EFO_0007037 cytomegalovirus seropositivity 'cytomegalovirus seropositivity' SubClassOf 'is_about' some 'cytomegalovirus infection' http://www.ebi.ac.uk/efo/EFO_0008363 gamma-linoleic acid measurement 'gamma-linoleic acid measurement' SubClassOf 'fatty acid measurement' 'gamma-linoleic acid measurement' SubClassOf 'fatty acid measurement' http://www.ebi.ac.uk/efo/EFO_0009694 beta-lactam allergy measurement 'beta-lactam allergy measurement' SubClassOf 'allergy measurement' 'beta-lactam allergy measurement' SubClassOf 'is_about' some 'beta-lactam' 'beta-lactam allergy measurement' SubClassOf 'is_about' some 'allergy' 'beta-lactam allergy measurement' SubClassOf 'allergy measurement' http://www.ebi.ac.uk/efo/EFO_0007036 herpes virus seropositivity 'herpes virus seropositivity' SubClassOf 'is_about' some 'viral disease' http://www.ebi.ac.uk/efo/EFO_0008364 generational effect measurement 'generational effect measurement' SubClassOf 'measurement' 'generational effect measurement' SubClassOf 'measurement' http://www.orpha.net/ORDO/Orphanet_102015 Autosomal recessive limb-girdle muscular dystrophy 'Autosomal recessive limb-girdle muscular dystrophy' SubClassOf 'Limb-girdle muscular dystrophy' 'Autosomal recessive limb-girdle muscular dystrophy' SubClassOf 'autosomal recessive disease' 'Autosomal recessive limb-girdle muscular dystrophy' SubClassOf 'Limb-girdle muscular dystrophy' http://www.orpha.net/ORDO/Orphanet_3052 X-linked intellectual disability - seizures - psoriasis 'X-linked intellectual disability - seizures - psoriasis' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability - seizures - psoriasis' SubClassOf 'X-linked syndromic intellectual disability' http://www.ebi.ac.uk/efo/EFO_0007035 Chlamydia pneumoniae seropositivity 'Chlamydia pneumoniae seropositivity' SubClassOf 'is_about' some 'bacterial disease' http://www.ebi.ac.uk/efo/EFO_0008365 heart amyloid deposition measurement 'heart amyloid deposition measurement' SubClassOf 'amyloid deposition measurement' 'heart amyloid deposition measurement' SubClassOf 'amyloid deposition measurement' 'heart amyloid deposition measurement' SubClassOf 'is_about' some 'heart' http://www.orpha.net/ORDO/Orphanet_3051 intellectual disability - sparse hair - brachydactyly 'intellectual disability - sparse hair - brachydactyly' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'intellectual disability - sparse hair - brachydactyly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'intellectual disability - sparse hair - brachydactyly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'intellectual disability - sparse hair - brachydactyly' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_102013 Complex hereditary spastic paraplegia 'Complex hereditary spastic paraplegia' SubClassOf 'Hereditary spastic paraplegia' 'Complex hereditary spastic paraplegia' SubClassOf 'Hereditary spastic paraplegia' 'Complex hereditary spastic paraplegia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Complex hereditary spastic paraplegia' EquivalentTo 'Hereditary spastic paraplegia' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021127) http://www.orpha.net/ORDO/Orphanet_102014 Autosomal dominant limb-girdle muscular dystrophy 'Autosomal dominant limb-girdle muscular dystrophy' SubClassOf 'Limb-girdle muscular dystrophy' 'Autosomal dominant limb-girdle muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 'Autosomal dominant limb-girdle muscular dystrophy' SubClassOf 'Limb-girdle muscular dystrophy' http://www.orpha.net/ORDO/Orphanet_102011 Lissencephaly type 3 'Lissencephaly type 3' SubClassOf 'Lissencephaly' 'Lissencephaly type 3' SubClassOf 'Lissencephaly' http://www.ebi.ac.uk/efo/EFO_0007039 human herpesvirus 8 seropositivity 'human herpesvirus 8 seropositivity' SubClassOf 'is_about' some 'human herpesvirus 8 infection' http://www.orpha.net/ORDO/Orphanet_98505 Genetic motor neuron disease 'Genetic motor neuron disease' SubClassOf 'Genetic peripheral neuropathy' 'Genetic motor neuron disease' EquivalentTo 'motor neuron disease' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) 'Genetic motor neuron disease' SubClassOf 'Genetic neurodegenerative disease' 'Genetic motor neuron disease' SubClassOf 'motor neuron disease' http://www.orpha.net/ORDO/Orphanet_102012 Pure hereditary spastic paraplegia 'Pure hereditary spastic paraplegia' SubClassOf 'Hereditary spastic paraplegia' 'Pure hereditary spastic paraplegia' SubClassOf 'Hereditary spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_102010 Other syndrome with lissencephaly as a major feature 'Other syndrome with lissencephaly as a major feature' SubClassOf 'Lissencephaly' 'Other syndrome with lissencephaly as a major feature' SubClassOf 'Lissencephaly' http://www.orpha.net/ORDO/Orphanet_99842 Leukocyte adhesion deficiency type I 'Leukocyte adhesion deficiency type I' SubClassOf 'Leukocyte adhesion deficiency' 'Leukocyte adhesion deficiency type I' SubClassOf 'Leukocyte adhesion deficiency' http://www.orpha.net/ORDO/Orphanet_99844 Leukocyte adhesion deficiency type III 'Leukocyte adhesion deficiency type III' SubClassOf 'Leukocyte adhesion deficiency' 'Leukocyte adhesion deficiency type III' SubClassOf 'Osteopetrosis' 'Leukocyte adhesion deficiency type III' SubClassOf 'Leukocyte adhesion deficiency' 'Leukocyte adhesion deficiency type III' SubClassOf 'Autosomal recessive malignant osteopetrosis' http://www.orpha.net/ORDO/Orphanet_99843 Leukocyte adhesion deficiency type II 'Leukocyte adhesion deficiency type II' SubClassOf 'Leukocyte adhesion deficiency' 'Leukocyte adhesion deficiency type II' SubClassOf 'Disorder of multiple glycosylation' 'Leukocyte adhesion deficiency type II' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' 'Leukocyte adhesion deficiency type II' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'Leukocyte adhesion deficiency type II' SubClassOf 'Leukocyte adhesion deficiency' 'Leukocyte adhesion deficiency type II' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' 'Leukocyte adhesion deficiency type II' SubClassOf 'Disorder of multiple glycosylation' 'Leukocyte adhesion deficiency type II' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'Leukocyte adhesion deficiency type II' SubClassOf 'Monogenic disease with epilepsy' 'Leukocyte adhesion deficiency type II' SubClassOf 'congenital disorder of glycosylation type II' http://www.orpha.net/ORDO/Orphanet_3050 Intellectual disability - hypotonia - skin hyperpigmentation 'Intellectual disability - hypotonia - skin hyperpigmentation' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Intellectual disability - hypotonia - skin hyperpigmentation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 http://purl.obolibrary.org/obo/NCBITaxon_33634 Stramenopiles 'Stramenopiles' SubClassOf 'Eukaryota' 'Stramenopiles' SubClassOf 'Eukaryota' http://www.ebi.ac.uk/efo/EFO_0008370 infant white matter volume measurement 'infant white matter volume measurement' SubClassOf 'white matter volume measurement' 'infant white matter volume measurement' SubClassOf 'white matter volume measurement' 'infant white matter volume measurement' SubClassOf 'is_about' some 'brain' http://www.ebi.ac.uk/efo/EFO_0008371 kidney amyloid deposition measurement 'kidney amyloid deposition measurement' SubClassOf 'amyloid deposition measurement' 'kidney amyloid deposition measurement' SubClassOf 'amyloid deposition measurement' 'kidney amyloid deposition measurement' SubClassOf 'is_about' some 'kidney' http://www.ebi.ac.uk/efo/EFO_0008372 laterality measurement 'laterality measurement' SubClassOf 'measurement' 'laterality measurement' SubClassOf 'measurement' http://www.ebi.ac.uk/efo/EFO_0007040 blood lead measurement 'blood lead measurement' SubClassOf 'is_about' some 'lead' http://www.ebi.ac.uk/efo/EFO_0008399 mean fractional anisotropy measurement 'mean fractional anisotropy measurement' SubClassOf 'brain volume measurement' 'mean fractional anisotropy measurement' SubClassOf 'is_about' some 'cognition' 'mean fractional anisotropy measurement' SubClassOf 'is_about' some 'schizophrenia' 'mean fractional anisotropy measurement' SubClassOf 'is_about' some 'brain' 'mean fractional anisotropy measurement' SubClassOf 'brain volume measurement' http://www.ebi.ac.uk/efo/EFO_0007066 chronic ulcer of skin 'chronic ulcer of skin' SubClassOf 'has modifier' some 'chronic' http://www.orpha.net/ORDO/Orphanet_3068 Intellectual disability - myopathy - short stature - endocrine defect 'Intellectual disability - myopathy - short stature - endocrine defect' SubClassOf 'Congenital myopathy' 'Intellectual disability - myopathy - short stature - endocrine defect' SubClassOf 'Congenital myopathy' 'Intellectual disability - myopathy - short stature - endocrine defect' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Intellectual disability - myopathy - short stature - endocrine defect' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://www.orpha.net/ORDO/Orphanet_3067 Intellectual disability - microcephaly - phalangeal - facial abnormalities 'Intellectual disability - microcephaly - phalangeal - facial abnormalities' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Intellectual disability - microcephaly - phalangeal - facial abnormalities' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 http://www.ebi.ac.uk/efo/EFO_0007069 3134 '3134' SubClassOf 'cultured cell' '3134' SubClassOf 'cultured cell' '3134' SubClassOf 'derives_from' some ('breast adenocarcinoma cell line' and ('part_of' some ('breast' and ('part_of' some 'Mus musculus')))) '3134' SubClassOf 'has_quality' some 'male' http://www.orpha.net/ORDO/Orphanet_3063 X-linked intellectual disability, Snyder type 'X-linked intellectual disability, Snyder type' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability, Snyder type' SubClassOf 'X-linked syndromic intellectual disability' http://www.ebi.ac.uk/efo/EFO_0008398 T wave morphology measurement 'T wave morphology measurement' SubClassOf 'electrocardiography' 'T wave morphology measurement' SubClassOf 'electrocardiography' 'T wave morphology measurement' SubClassOf 'is_about' some 'heart' http://www.orpha.net/ORDO/Orphanet_3062 X-linked intellectual disability, Schutz type 'X-linked intellectual disability, Schutz type' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability, Schutz type' SubClassOf 'X-linked syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_99846 Autosomal dominant myoglobinuria 'Autosomal dominant myoglobinuria' SubClassOf 'Muscular lipidosis' 'Autosomal dominant myoglobinuria' SubClassOf 'Other metabolic disease' 'Autosomal dominant myoglobinuria' SubClassOf 'Muscular lipidosis' 'Autosomal dominant myoglobinuria' SubClassOf 'Other metabolic disease' 'Autosomal dominant myoglobinuria' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000866 'Autosomal dominant myoglobinuria' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 http://www.orpha.net/ORDO/Orphanet_99845 Genetic recurrent myoglobinuria 'Genetic recurrent myoglobinuria' SubClassOf 'Muscular lipidosis' 'Genetic recurrent myoglobinuria' SubClassOf 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement' 'Genetic recurrent myoglobinuria' SubClassOf 'Other metabolic disease' 'Genetic recurrent myoglobinuria' SubClassOf 'Muscular lipidosis' 'Genetic recurrent myoglobinuria' SubClassOf 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement' 'Genetic recurrent myoglobinuria' SubClassOf 'Other metabolic disease' http://www.orpha.net/ORDO/Orphanet_98518 Cranial nerve and nuclear aplasia 'Cranial nerve and nuclear aplasia' SubClassOf 'Rare genetic neurological disorder' 'Cranial nerve and nuclear aplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020022 http://www.orpha.net/ORDO/Orphanet_99849 Glycogen storage disease due to muscle beta-enolase deficiency 'Glycogen storage disease due to muscle beta-enolase deficiency' SubClassOf 'Glycogen storage disease' 'Glycogen storage disease due to muscle beta-enolase deficiency' SubClassOf 'Muscular glycogenosis' 'Glycogen storage disease due to muscle beta-enolase deficiency' SubClassOf 'Glycogen storage disease' 'Glycogen storage disease due to muscle beta-enolase deficiency' SubClassOf 'Muscular glycogenosis' http://purl.obolibrary.org/obo/UBERON_0005562 thymus primordium 'thymus primordium' SubClassOf 'part_of' some 'chordate pharynx' 'thymus primordium' SubClassOf 'part_of' some 'gland' 'thymus primordium' SubClassOf 'part_of' some 'neck' 'thymus primordium' SubClassOf http://purl.obolibrary.org/obo/UBERON_0003351 http://purl.obolibrary.org/obo/CHEBI_50792 estrogen receptor antagonist role 'estrogen receptor antagonist role' SubClassOf 'inheres_in' some 'chemical entity' http://www.orpha.net/ORDO/Orphanet_99853 Ovarioleukodystrophy 'Ovarioleukodystrophy' SubClassOf 'CACH syndrome' 'Ovarioleukodystrophy' SubClassOf 'CACH syndrome' http://www.orpha.net/ORDO/Orphanet_99852 RAVINE syndrome 'RAVINE syndrome' SubClassOf 'Leukodystrophy' 'RAVINE syndrome' SubClassOf 'Leukodystrophy' http://www.orpha.net/ORDO/Orphanet_75840 Congenital muscular dystrophy, Ullrich type 'Congenital muscular dystrophy, Ullrich type' SubClassOf 'Congenital muscular dystrophy' 'Congenital muscular dystrophy, Ullrich type' SubClassOf 'Qualitative or quantitative defects of collagen 6' 'Congenital muscular dystrophy, Ullrich type' SubClassOf 'Congenital muscular dystrophy' 'Congenital muscular dystrophy, Ullrich type' SubClassOf 'Qualitative or quantitative defects of collagen 6' http://www.orpha.net/ORDO/Orphanet_98523 Non-syndromic pontocerebellar hypoplasia 'Non-syndromic pontocerebellar hypoplasia' SubClassOf 'Genetic posterior fossa malformation' 'Non-syndromic pontocerebellar hypoplasia' SubClassOf 'Genetic posterior fossa malformation' http://www.orpha.net/ORDO/Orphanet_99854 Cree leukoencephalopathy 'Cree leukoencephalopathy' SubClassOf 'CACH syndrome' 'Cree leukoencephalopathy' SubClassOf 'CACH syndrome' http://www.ebi.ac.uk/efo/EFO_0007070 ACC112 'ACC112' SubClassOf 'cultured cell' 'ACC112' SubClassOf 'bearer_of' some 'adenoid cystic carcinoma' 'ACC112' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('saliva-secreting gland' and ('part_of' some 'Homo sapiens')))) 'ACC112' SubClassOf 'has_quality' some 'male' http://purl.obolibrary.org/obo/CHEBI_132030 glycoursodeoxycholate 'glycoursodeoxycholate' SubClassOf 'chemical entity' 'glycoursodeoxycholate' SubClassOf 'chemical entity' http://www.ebi.ac.uk/efo/EFO_0007074 DND-41 'DND-41' SubClassOf 'cultured cell' 'DND-41' SubClassOf 'derives_from' some ('T cell' and ('part_of' some ('blood' and ('part_of' some 'Homo sapiens')))) 'DND-41' SubClassOf 'has_quality' some 'male' 'DND-41' SubClassOf 'bearer_of' some 'T-cell acute lymphoblastic leukemia' http://purl.obolibrary.org/obo/UBERON_0005566 rhombomere 1 floor plate 'rhombomere 1 floor plate' SubClassOf 'zebrafish component' 'rhombomere 1 floor plate' SubClassOf 'part_of' some 'rhombomere 1' 'rhombomere 1 floor plate' SubClassOf http://purl.obolibrary.org/obo/UBERON_0005500 http://www.ebi.ac.uk/efo/EFO_0007073 CyT49 'CyT49' SubClassOf 'cultured cell' 'CyT49' SubClassOf 'derives_from' some ('embryonic stem cell' and ('part_of' some ('blastocyst' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/UBERON_0005563 trigeminal neural crest 'trigeminal neural crest' SubClassOf 'cranial neural crest' 'trigeminal neural crest' SubClassOf 'mesenchyme derived from head neural crest' 'trigeminal neural crest' SubClassOf 'cranial neural crest' 'trigeminal neural crest' SubClassOf 'mesenchyme derived from head neural crest' 'trigeminal neural crest' SubClassOf 'part_of' some 'mesenchyme derived from head neural crest' http://www.ebi.ac.uk/efo/EFO_0007072 C0202 'C0202' SubClassOf 'has_quality' some 'male' 'C0202' SubClassOf 'derives_from' some ('lymphoblastoid cell line' and ('part_of' some ('blood' and ('part_of' some 'Homo sapiens')))) 'C0202' SubClassOf 'cultured cell' http://purl.obolibrary.org/obo/UBERON_0005564 gonad primordium 'gonad primordium' SubClassOf 'primordium' 'gonad primordium' SubClassOf 'primordium' 'gonad primordium' SubClassOf 'part_of' some 'reproductive system' http://www.ebi.ac.uk/efo/EFO_0007071 BG01 'BG01' SubClassOf 'cultured cell' 'BG01' SubClassOf 'has_quality' some 'male' 'BG01' SubClassOf 'derives_from' some ('embryonic stem cell' and ('part_of' some ('embryo' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0008388 gamma wave measurement 'gamma wave measurement' SubClassOf 'brain measurement' 'gamma wave measurement' SubClassOf 'brain measurement' 'gamma wave measurement' SubClassOf 'is_about' some 'cognition' 'gamma wave measurement' SubClassOf 'is_about' some 'schizophrenia' http://www.ebi.ac.uk/efo/EFO_0008389 putamen measurement 'putamen measurement' SubClassOf 'brain measurement' 'putamen measurement' SubClassOf 'brain measurement' 'putamen measurement' SubClassOf 'is_about' some 'caudate-putamen' http://www.orpha.net/ORDO/Orphanet_3079 Intellectual disability, Buenos-Aires type 'Intellectual disability, Buenos-Aires type' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Intellectual disability, Buenos-Aires type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Intellectual disability, Buenos-Aires type' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Intellectual disability, Buenos-Aires type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 http://www.orpha.net/ORDO/Orphanet_3078 Severe X-linked intellectual disability, Gustavson type 'Severe X-linked intellectual disability, Gustavson type' SubClassOf 'X-linked syndromic intellectual disability' 'Severe X-linked intellectual disability, Gustavson type' SubClassOf 'X-linked syndromic intellectual disability' 'Severe X-linked intellectual disability, Gustavson type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018609 http://www.ebi.ac.uk/efo/EFO_0007053 myelosuppression 'myelosuppression' SubClassOf 'has part' some ('quality' and ('has component' some 'abnormal') and ('inheres in part of' some 'bone marrow')) http://www.orpha.net/ORDO/Orphanet_3077 X-linked intellectual disability - psychosis - macroorchidism 'X-linked intellectual disability - psychosis - macroorchidism' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability - psychosis - macroorchidism' SubClassOf 'X-linked syndromic intellectual disability' http://www.ebi.ac.uk/efo/EFO_0008384 tumor necrosis factor receptor II measurement 'tumor necrosis factor receptor II measurement' SubClassOf 'blood protein measurement' 'tumor necrosis factor receptor II measurement' SubClassOf 'blood protein measurement' http://www.ebi.ac.uk/efo/EFO_0008385 visual acuity measurement 'visual acuity measurement' SubClassOf 'is_about' some 'eye' 'visual acuity measurement' SubClassOf 'measurement' http://www.ebi.ac.uk/efo/EFO_0008386 body odor measurement 'body odor measurement' SubClassOf 'measurement' 'body odor measurement' SubClassOf 'measurement' http://www.orpha.net/ORDO/Orphanet_3074 Intellectual disability - short stature - hypertelorism 'Intellectual disability - short stature - hypertelorism' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Intellectual disability - short stature - hypertelorism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Intellectual disability - short stature - hypertelorism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Intellectual disability - short stature - hypertelorism' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.ebi.ac.uk/efo/EFO_0008387 caudate nucleus measurement 'caudate nucleus measurement' SubClassOf 'brain measurement' 'caudate nucleus measurement' SubClassOf 'is_about' some 'caudate nucleus' 'caudate nucleus measurement' SubClassOf 'brain measurement' http://www.orpha.net/ORDO/Orphanet_99856 Primary syringomyelia 'Primary syringomyelia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017987 'Primary syringomyelia' SubClassOf 'Rare genetic medullar disease' http://www.orpha.net/ORDO/Orphanet_99858 Idiopathic syringomyelia 'Idiopathic syringomyelia' SubClassOf 'Primary syringomyelia' 'Idiopathic syringomyelia' SubClassOf 'Primary syringomyelia' 'Idiopathic syringomyelia' SubClassOf 'Familial syringomyelia' http://purl.obolibrary.org/obo/UBERON_0005573 rhombomere 3 floor plate 'rhombomere 3 floor plate' SubClassOf 'zebrafish component' 'rhombomere 3 floor plate' SubClassOf 'part_of' some 'rhombomere 3' 'rhombomere 3 floor plate' SubClassOf http://purl.obolibrary.org/obo/UBERON_0005500 http://purl.obolibrary.org/obo/UBERON_0005570 rhombomere 2 floor plate 'rhombomere 2 floor plate' SubClassOf 'zebrafish component' 'rhombomere 2 floor plate' SubClassOf http://purl.obolibrary.org/obo/UBERON_0005500 'rhombomere 2 floor plate' SubClassOf 'part_of' some 'rhombomere 2' http://www.ebi.ac.uk/efo/EFO_0008391 erythropoetin measurement 'erythropoetin measurement' SubClassOf 'glycoprotein measurement' 'erythropoetin measurement' SubClassOf 'has_role' some 'hormone role' 'erythropoetin measurement' SubClassOf 'glycoprotein measurement' http://www.ebi.ac.uk/efo/EFO_0008392 triiodothyronine measurement 'triiodothyronine measurement' SubClassOf 'hormone measurement' 'triiodothyronine measurement' SubClassOf 'is_about' some '3,3',5-triiodo-L-thyronine' 'triiodothyronine measurement' SubClassOf 'has_role' some 'hormone role' 'triiodothyronine measurement' SubClassOf 'hormone measurement' 'triiodothyronine measurement' SubClassOf 'is_about' some 'thyroid gland' http://www.orpha.net/ORDO/Orphanet_3071 Costello syndrome 'Costello syndrome' SubClassOf 'Noonan syndrome and Noonan-related syndrome' 'Costello syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Costello syndrome' SubClassOf 'Genetic dermis elastic tissue disorder' 'Costello syndrome' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Costello syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Costello syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 'Costello syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Costello syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018792 'Costello syndrome' SubClassOf 'Noonan syndrome and Noonan-related syndrome' 'Costello syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Costello syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 'Costello syndrome' SubClassOf 'Genetic dermis elastic tissue disorder' 'Costello syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Costello syndrome' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Costello syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.ebi.ac.uk/efo/EFO_0008393 reaction time measurement 'reaction time measurement' SubClassOf 'cognitive function measurement' 'reaction time measurement' SubClassOf 'cognitive function measurement' 'reaction time measurement' SubClassOf 'is_about' some 'cognition' http://purl.obolibrary.org/obo/UBERON_0005579 rhombomere 5 floor plate 'rhombomere 5 floor plate' SubClassOf 'zebrafish component' 'rhombomere 5 floor plate' SubClassOf http://purl.obolibrary.org/obo/UBERON_0005500 'rhombomere 5 floor plate' SubClassOf 'part_of' some 'rhombomere 5' http://www.ebi.ac.uk/efo/EFO_0008394 verbal-numerical reasoning measurement 'verbal-numerical reasoning measurement' SubClassOf 'cognitive function measurement' 'verbal-numerical reasoning measurement' SubClassOf 'cognitive function measurement' 'verbal-numerical reasoning measurement' SubClassOf 'is_about' some 'cognition' http://purl.obolibrary.org/obo/UBERON_0005576 rhombomere 4 floor plate 'rhombomere 4 floor plate' SubClassOf 'zebrafish component' 'rhombomere 4 floor plate' SubClassOf http://purl.obolibrary.org/obo/UBERON_0005500 'rhombomere 4 floor plate' SubClassOf 'part_of' some 'rhombomere 4' http://www.ebi.ac.uk/efo/EFO_0008390 prothrombin time measurement 'prothrombin time measurement' SubClassOf 'hematological measurement' 'prothrombin time measurement' SubClassOf 'is_about' some 'blood plasma' 'prothrombin time measurement' SubClassOf 'hematological measurement' 'prothrombin time measurement' SubClassOf 'is_about' some 'liver disease' http://www.ebi.ac.uk/efo/EFO_0007089 HUES64 'HUES64' SubClassOf 'cultured cell' 'HUES64' SubClassOf 'derives_from' some ('embryonic stem cell' and ('part_of' some ('blastocyst' and ('part_of' some 'Homo sapiens')))) 'HUES64' SubClassOf 'has_quality' some 'male' http://www.orpha.net/ORDO/Orphanet_3003 Pyknoachondrogenesis 'Pyknoachondrogenesis' SubClassOf 'Lethal chondrodysplasia' 'Pyknoachondrogenesis' SubClassOf 'Lethal chondrodysplasia' http://www.ebi.ac.uk/efo/EFO_0007088 HUES63 'HUES63' SubClassOf 'cultured cell' 'HUES63' SubClassOf 'has_quality' some 'male' 'HUES63' SubClassOf 'derives_from' some ('embryonic stem cell' and ('part_of' some ('blastocyst' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0007087 HUES62 'HUES62' SubClassOf 'has_quality' some 'female' 'HUES62' SubClassOf 'cultured cell' 'HUES62' SubClassOf 'derives_from' some ('embryonic stem cell' and ('part_of' some ('blastocyst' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0007086 HUES6 'HUES6' SubClassOf 'has_quality' some 'female' 'HUES6' SubClassOf 'cultured cell' 'HUES6' SubClassOf 'derives_from' some ('embryonic stem cell' and ('part_of' some ('blastocyst' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/UBERON_0005507 rhombomere 3 'rhombomere 3' SubClassOf 'develops_from' some 'presumptive rhombomere 3' http://www.orpha.net/ORDO/Orphanet_87884 Non-syndromic genetic deafness 'Non-syndromic genetic deafness' SubClassOf 'has_disease_location' some 'ear' 'Non-syndromic genetic deafness' SubClassOf 'hearing loss' 'Non-syndromic genetic deafness' EquivalentTo 'hearing loss' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021128) and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) 'Non-syndromic genetic deafness' SubClassOf http://purl.obolibrary.org/obo/MONDO_0037940 'Non-syndromic genetic deafness' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021128 http://www.orpha.net/ORDO/Orphanet_3006 Pyridoxine-dependent epilepsy 'Pyridoxine-dependent epilepsy' SubClassOf 'Neurometabolic disease' 'Pyridoxine-dependent epilepsy' SubClassOf 'Disorder of pyridoxine metabolism' 'Pyridoxine-dependent epilepsy' SubClassOf 'Neurometabolic disease' 'Pyridoxine-dependent epilepsy' SubClassOf 'Disorder of pyridoxine metabolism' 'Pyridoxine-dependent epilepsy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100033 'Pyridoxine-dependent epilepsy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016404 http://www.orpha.net/ORDO/Orphanet_3005 Pyle disease 'Pyle disease' SubClassOf 'Primary bone dysplasia with increased bone density' 'Pyle disease' SubClassOf 'Primary bone dysplasia with increased bone density' http://www.orpha.net/ORDO/Orphanet_3004 Mirror polydactyly - vertebral segmentation - limbs defects 'Mirror polydactyly - vertebral segmentation - limbs defects' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Mirror polydactyly - vertebral segmentation - limbs defects' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' http://www.orpha.net/ORDO/Orphanet_73245 Spinal muscular atrophy - Dandy-Walker malformation - cataracts 'Spinal muscular atrophy - Dandy-Walker malformation - cataracts' SubClassOf 'Spinal muscular atrophy associated with central nervous system anomaly' 'Spinal muscular atrophy - Dandy-Walker malformation - cataracts' SubClassOf 'Spinal muscular atrophy associated with central nervous system anomaly' 'Spinal muscular atrophy - Dandy-Walker malformation - cataracts' SubClassOf 'Genetic syndrome with a Dandy-Walker malformation as major feature' http://www.orpha.net/ORDO/Orphanet_73246 Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay 'Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 http://www.ebi.ac.uk/efo/EFO_0007092 HUES66 'HUES66' SubClassOf 'derives_from' some ('embryonic stem cell' and ('part_of' some ('blastocyst' and ('part_of' some 'Homo sapiens')))) 'HUES66' SubClassOf 'cultured cell' 'HUES66' SubClassOf 'has_quality' some 'female' http://www.ebi.ac.uk/efo/EFO_0007091 HUES65 'HUES65' SubClassOf 'derives_from' some ('embryonic stem cell' and ('part_of' some ('blastocyst' and ('part_of' some 'Homo sapiens')))) 'HUES65' SubClassOf 'cultured cell' 'HUES65' SubClassOf 'has_quality' some 'male' http://www.ebi.ac.uk/efo/EFO_0007090 HUES64-derived CD184+ 'HUES64-derived CD184+' SubClassOf 'derives_from' some ('endothelial cell derived cell line' and ('part_of' some ('blood vessel' and ('part_of' some 'Homo sapiens')))) 'HUES64-derived CD184+' SubClassOf 'has_quality' some 'male' 'HUES64-derived CD184+' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0007096 iPS DF 19.11 'iPS DF 19.11' SubClassOf 'has_quality' some 'male' 'iPS DF 19.11' SubClassOf 'cultured cell' 'iPS DF 19.11' SubClassOf 'derives_from' some ('induced pluripotent stem cell' and ('part_of' some ('prepuce of penis' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0007095 iPS DF 19.7 'iPS DF 19.7' SubClassOf 'cultured cell' 'iPS DF 19.7' SubClassOf 'derives_from' some ('induced pluripotent stem cell' and ('part_of' some ('prepuce of penis' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0007094 HUES9 'HUES9' SubClassOf 'cultured cell' 'HUES9' SubClassOf 'has_quality' some 'female' 'HUES9' SubClassOf 'derives_from' some ('embryonic stem cell' and ('part_of' some ('blastocyst' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0007093 HUES8 'HUES8' SubClassOf 'has_quality' some 'male' 'HUES8' SubClassOf 'cultured cell' 'HUES8' SubClassOf 'derives_from' some ('embryonic stem cell' and ('part_of' some ('blastocyst' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0007078 HUES13 'HUES13' SubClassOf 'cultured cell' 'HUES13' SubClassOf 'has_quality' some 'male' 'HUES13' SubClassOf 'derives_from' some ('embryonic stem cell' and ('part_of' some ('blastocyst' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0007077 GM06999 'GM06999' SubClassOf 'has_quality' some 'female' 'GM06999' SubClassOf 'cultured cell' 'GM06999' SubClassOf 'derives_from' some ('lymphoblastoid cell line' and ('part_of' some ('blood' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0007076 ES-I3 'ES-I3' SubClassOf 'cultured cell' 'ES-I3' SubClassOf 'derives_from' some ('embryonic stem cell' and ('part_of' some ('blastocyst' and ('part_of' some 'Homo sapiens')))) 'ES-I3' SubClassOf 'has_quality' some 'female' http://www.ebi.ac.uk/efo/EFO_0007075 ES-E14 'ES-E14' SubClassOf 'cultured cell' 'ES-E14' SubClassOf 'has_quality' some 'male' 'ES-E14' SubClassOf 'derives_from' some ('embryonic stem cell' and ('part_of' some ('blastocyst' and ('part_of' some 'Mus musculus')))) http://www.orpha.net/ORDO/Orphanet_3011 Spastic tetraplegia - retinitis pigmentosa - intellectual disability 'Spastic tetraplegia - retinitis pigmentosa - intellectual disability' SubClassOf 'Syndromic retinitis pigmentosa' 'Spastic tetraplegia - retinitis pigmentosa - intellectual disability' SubClassOf 'Syndromic retinitis pigmentosa' 'Spastic tetraplegia - retinitis pigmentosa - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 http://purl.obolibrary.org/obo/UBERON_0006849 scapula 'scapula' SubClassOf 'animal component' 'scapula' SubClassOf http://purl.obolibrary.org/obo/UBERON_0002513 'scapula' SubClassOf http://purl.obolibrary.org/obo/UBERON_0007829 http://www.orpha.net/ORDO/Orphanet_3010 Qazi-Markouizos syndrome 'Qazi-Markouizos syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Qazi-Markouizos syndrome' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://www.orpha.net/ORDO/Orphanet_85212 Fetal Gaucher disease 'Fetal Gaucher disease' SubClassOf 'Rare syndromic dyslipidemia' http://purl.obolibrary.org/obo/UBERON_0005519 rhombomere 6 'rhombomere 6' SubClassOf 'develops_from' some 'presumptive rhombomere 6' http://www.orpha.net/ORDO/Orphanet_87876 sialidosis type II 'sialidosis type II' SubClassOf 'Metabolic disease with cataract' 'sialidosis type II' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'sialidosis type II' SubClassOf 'Syndromic neurometabolic disease with non-X-linked intellectual disability' 'sialidosis type II' SubClassOf 'Lysosomal storage disease with skeletal involvement' 'sialidosis type II' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'sialidosis type II' SubClassOf 'sialidosis' 'sialidosis type II' SubClassOf 'Metabolic disease with cataract' 'sialidosis type II' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'sialidosis type II' SubClassOf 'Syndromic neurometabolic disease with non-X-linked intellectual disability' 'sialidosis type II' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'sialidosis type II' SubClassOf 'Lysosomal storage disease with skeletal involvement' 'sialidosis type II' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'sialidosis type II' SubClassOf 'sialidosis' http://www.ebi.ac.uk/efo/EFO_0007079 HUES28 'HUES28' SubClassOf 'has_quality' some 'female' 'HUES28' SubClassOf 'derives_from' some ('embryonic stem cell' and ('part_of' some ('blastocyst' and ('part_of' some 'Homo sapiens')))) 'HUES28' SubClassOf 'cultured cell' http://www.orpha.net/ORDO/Orphanet_3019 Ramon syndrome 'Ramon syndrome' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'Ramon syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Ramon syndrome' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'Ramon syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' http://www.orpha.net/ORDO/Orphanet_3016 Radius absent - anogenital anomalies 'Radius absent - anogenital anomalies' SubClassOf 'Genetic syndrome with limb reduction defects' 'Radius absent - anogenital anomalies' SubClassOf 'Genetic syndrome with limb reduction defects' 'Radius absent - anogenital anomalies' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' http://www.orpha.net/ORDO/Orphanet_73229 Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures 'Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures' SubClassOf 'Basement membrane disease' 'Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures' SubClassOf 'Genetic central nervous system and retinal vascular disease' 'Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018790 'Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures' SubClassOf 'Basement membrane disease' http://www.orpha.net/ORDO/Orphanet_3015 Radio-renal syndrome 'Radio-renal syndrome' SubClassOf 'Genetic syndrome with limb reduction defects' 'Radio-renal syndrome' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' 'Radio-renal syndrome' SubClassOf 'Genetic syndrome with limb reduction defects' http://www.orpha.net/ORDO/Orphanet_73230 Ossification anomalies - psychomotor development delay 'Ossification anomalies - psychomotor development delay' SubClassOf 'Primary bone dysplasia with defective bone mineralization' 'Ossification anomalies - psychomotor development delay' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015929 'Ossification anomalies - psychomotor development delay' SubClassOf 'Primary bone dysplasia with defective bone mineralization' 'Ossification anomalies - psychomotor development delay' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Ossification anomalies - psychomotor development delay' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 http://www.orpha.net/ORDO/Orphanet_284160 8q21.11 microdeletion syndrome '8q21.11 microdeletion syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '8q21.11 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 8' '8q21.11 microdeletion syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '8q21.11 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 '8q21.11 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 '8q21.11 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000761 '8q21.11 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 8' http://www.ebi.ac.uk/efo/EFO_0007081 HUES44 'HUES44' SubClassOf 'has_quality' some 'male' 'HUES44' SubClassOf 'cultured cell' 'HUES44' SubClassOf 'derives_from' some ('embryonic stem cell' and ('part_of' some ('blastocyst' and ('part_of' some 'Homo sapiens')))) http://www.orpha.net/ORDO/Orphanet_284169 10p11.21p12.31 microdeletion syndrome '10p11.21p12.31 microdeletion syndrome' SubClassOf 'Partial deletion of the short arm of chromosome 10' '10p11.21p12.31 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0014741 '10p11.21p12.31 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007 '10p11.21p12.31 microdeletion syndrome' SubClassOf 'Partial deletion of the short arm of chromosome 10' http://purl.obolibrary.org/obo/UBERON_0005515 rhombomere 5 'rhombomere 5' SubClassOf 'develops_from' some 'presumptive rhombomere 5' http://www.ebi.ac.uk/efo/EFO_0007080 HUES3 'HUES3' SubClassOf 'derives_from' some ('embryonic stem cell' and ('part_of' some ('blastocyst' and ('part_of' some 'Homo sapiens')))) 'HUES3' SubClassOf 'has_quality' some 'male' 'HUES3' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0007085 HUES53 'HUES53' SubClassOf 'derives_from' some ('embryonic stem cell' and ('part_of' some ('blastocyst' and ('part_of' some 'Homo sapiens')))) 'HUES53' SubClassOf 'cultured cell' 'HUES53' SubClassOf 'has_quality' some 'male' http://purl.obolibrary.org/obo/UBERON_0005511 rhombomere 4 'rhombomere 4' SubClassOf 'develops_from' some 'presumptive rhombomere 4' http://www.ebi.ac.uk/efo/EFO_0007084 HUES49 'HUES49' SubClassOf 'cultured cell' 'HUES49' SubClassOf 'has_quality' some 'female' 'HUES49' SubClassOf 'derives_from' some ('embryonic stem cell' and ('part_of' some ('blastocyst' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0007083 HUES48 'HUES48' SubClassOf 'cultured cell' 'HUES48' SubClassOf 'derives_from' some ('embryonic stem cell' and ('part_of' some ('blastocyst' and ('part_of' some 'Homo sapiens')))) 'HUES48' SubClassOf 'has_quality' some 'female' http://www.ebi.ac.uk/efo/EFO_0007082 HUES45 'HUES45' SubClassOf 'has_quality' some 'male' 'HUES45' SubClassOf 'cultured cell' 'HUES45' SubClassOf 'derives_from' some ('embryonic stem cell' and ('part_of' some ('blastocyst' and ('part_of' some 'Homo sapiens')))) http://www.orpha.net/ORDO/Orphanet_3021 RAPADILINO syndrome 'RAPADILINO syndrome' SubClassOf 'Genetic syndrome with limb reduction defects' 'RAPADILINO syndrome' SubClassOf 'Orofacial clefting syndrome' 'RAPADILINO syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'RAPADILINO syndrome' SubClassOf 'Genetic syndrome with limb reduction defects' 'RAPADILINO syndrome' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' 'RAPADILINO syndrome' SubClassOf 'autosomal recessive disease' 'RAPADILINO syndrome' SubClassOf 'Orofacial clefting syndrome' 'RAPADILINO syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'RAPADILINO syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 http://www.orpha.net/ORDO/Orphanet_85201 Genitopatellar syndrome 'Genitopatellar syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Genitopatellar syndrome' SubClassOf 'Patellar dysostosis' 'Genitopatellar syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Genitopatellar syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Genitopatellar syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Genitopatellar syndrome' SubClassOf 'Patellar dysostosis' http://www.orpha.net/ORDO/Orphanet_3020 Ramsay-Hunt syndrome 'Ramsay-Hunt syndrome' SubClassOf 'Genetic peripheral neuropathy' 'Ramsay-Hunt syndrome' SubClassOf 'Varicella Zoster infection' 'Ramsay-Hunt syndrome' SubClassOf 'Bell's palsy' 'Ramsay-Hunt syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016104 http://www.orpha.net/ORDO/Orphanet_85200 Ischio-vertebral syndrome 'Ischio-vertebral syndrome' SubClassOf 'Dysostosis with predominant vertebral and costal involvement' 'Ischio-vertebral syndrome' SubClassOf 'Dysostosis with predominant vertebral and costal involvement' http://purl.obolibrary.org/obo/UBERON_0005527 rhombomere 8 'rhombomere 8' SubClassOf 'develops_from' some 'presumptive rhombomere 8' http://www.orpha.net/ORDO/Orphanet_85203 Acro-pectoral syndrome 'Acro-pectoral syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Acro-pectoral syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' http://www.orpha.net/ORDO/Orphanet_85202 Keutel syndrome 'Keutel syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Keutel syndrome' SubClassOf 'Syndrome with brachydactyly' 'Keutel syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Keutel syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Keutel syndrome' SubClassOf 'Syndrome with brachydactyly' 'Keutel syndrome' SubClassOf 'Chondrodysplasia punctata' 'Keutel syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 http://www.orpha.net/ORDO/Orphanet_99802 Hemimegalencephaly 'Hemimegalencephaly' SubClassOf 'Cerebral malformation with epilepsy' 'Hemimegalencephaly' SubClassOf 'Cerebral malformation with epilepsy' http://www.orpha.net/ORDO/Orphanet_73217 Müllerian aplasia 'Müllerian aplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015828 http://www.orpha.net/ORDO/Orphanet_99803 Haddad syndrome 'Haddad syndrome' SubClassOf 'Rare genetic neurological disorder' 'Haddad syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021189 'Haddad syndrome' SubClassOf 'Ondine syndrome' http://www.orpha.net/ORDO/Orphanet_102020 Autosomal monosomy 'Autosomal monosomy' SubClassOf 'Autosomal anomaly' 'Autosomal monosomy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020639 'Autosomal monosomy' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0020639 and 'Autosomal anomaly' 'Autosomal monosomy' SubClassOf 'Autosomal anomaly' http://www.orpha.net/ORDO/Orphanet_99806 Oculootodental syndrome 'Oculootodental syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 11' 'Oculootodental syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Oculootodental syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 11' 'Oculootodental syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' http://www.orpha.net/ORDO/Orphanet_3027 Caudal regression sequence 'Caudal regression sequence' SubClassOf 'Malformation of the neurenteric canal, spinal cord and column' 'Caudal regression sequence' SubClassOf 'Syndromic anorectal malformation' 'Caudal regression sequence' SubClassOf 'Syndromic renal or urinary tract malformation' 'Caudal regression sequence' SubClassOf 'Syndromic urogenital tract malformation' 'Caudal regression sequence' SubClassOf 'Malformation of the neurenteric canal, spinal cord and column' 'Caudal regression sequence' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015829 'Caudal regression sequence' SubClassOf 'Currarino triad' 'Caudal regression sequence' SubClassOf 'Genetic non-syndromic renal or urinary tract malformation' 'Caudal regression sequence' SubClassOf 'Isolated anorectal malformation' 'Caudal regression sequence' SubClassOf 'Syndromic renal or urinary tract malformation' 'Caudal regression sequence' SubClassOf 'Familial caudal dysgenesis' 'Caudal regression sequence' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' http://www.orpha.net/ORDO/Orphanet_99807 PEHO-like syndrome 'PEHO-like syndrome' SubClassOf 'Epilepsy syndrome' 'PEHO-like syndrome' SubClassOf 'Syndromic lymphedema' 'PEHO-like syndrome' SubClassOf 'PEHO syndrome' http://www.orpha.net/ORDO/Orphanet_73220 X-linked intellectual disability - hypotonic face 'X-linked intellectual disability - hypotonic face' SubClassOf 'ATR-X-related syndrome' 'X-linked intellectual disability - hypotonic face' SubClassOf 'ATR-X-related syndrome' http://www.orpha.net/ORDO/Orphanet_73223 Global developmental delay - osteopenia - ectodermal defect 'Global developmental delay - osteopenia - ectodermal defect' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Global developmental delay - osteopenia - ectodermal defect' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 http://www.orpha.net/ORDO/Orphanet_73224 Tubular renal disease - cardiomyopathy 'Tubular renal disease - cardiomyopathy' SubClassOf 'Syndrome associated with dilated cardiomyopathy' 'Tubular renal disease - cardiomyopathy' SubClassOf 'Syndrome associated with dilated cardiomyopathy' http://purl.obolibrary.org/obo/CHEBI_24462 gulonic acid 'gulonic acid' SubClassOf 'carbohydrate' 'gulonic acid' SubClassOf 'carbohydrate' http://www.orpha.net/ORDO/Orphanet_99811 Neuronal intestinal pseudoobstruction 'Neuronal intestinal pseudoobstruction' SubClassOf 'Chronic intestinal pseudoobstruction' 'Neuronal intestinal pseudoobstruction' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000858 'Neuronal intestinal pseudoobstruction' SubClassOf 'Chronic intestinal pseudoobstruction' http://www.orpha.net/ORDO/Orphanet_99810 Familial porencephaly 'Familial porencephaly' SubClassOf 'Porencephaly' 'Familial porencephaly' SubClassOf 'Porencephaly' 'Familial porencephaly' SubClassOf 'Cerebral malformation with epilepsy' 'Familial porencephaly' EquivalentTo 'Porencephaly' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) 'Familial porencephaly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018790 'Familial porencephaly' SubClassOf 'Encephaloclastic disorder' http://purl.obolibrary.org/obo/UBERON_0005523 rhombomere 7 'rhombomere 7' SubClassOf 'develops_from' some 'presumptive rhombomere 7' http://www.ebi.ac.uk/efo/EFO_0007099 iPS-11a 'iPS-11a' SubClassOf 'has_quality' some 'male' 'iPS-11a' SubClassOf 'derives_from' some ('induced pluripotent stem cell' and ('part_of' some ('zone of skin' and ('part_of' some 'Homo sapiens')))) 'iPS-11a' SubClassOf 'cultured cell' http://www.orpha.net/ORDO/Orphanet_3035 Growth delay - hydrocephaly - lung hypoplasia 'Growth delay - hydrocephaly - lung hypoplasia' SubClassOf 'Genetic respiratory malformation' 'Growth delay - hydrocephaly - lung hypoplasia' SubClassOf 'Genetic respiratory malformation' 'Growth delay - hydrocephaly - lung hypoplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015222 http://www.ebi.ac.uk/efo/EFO_0007098 iPS DF 6.9 'iPS DF 6.9' SubClassOf 'has_quality' some 'male' 'iPS DF 6.9' SubClassOf 'cultured cell' 'iPS DF 6.9' SubClassOf 'derives_from' some ('induced pluripotent stem cell' and ('part_of' some ('prepuce of penis' and ('part_of' some 'Homo sapiens')))) http://www.orpha.net/ORDO/Orphanet_3034 Delayed membranous cranial ossification 'Delayed membranous cranial ossification' SubClassOf 'Cleidocranial dysplasia and isolated cranial ossification defect' 'Delayed membranous cranial ossification' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020018 'Delayed membranous cranial ossification' SubClassOf 'Cleidocranial dysplasia and isolated cranial ossification defect' http://www.ebi.ac.uk/efo/EFO_0007097 iPS DF 4.7 'iPS DF 4.7' SubClassOf 'cultured cell' 'iPS DF 4.7' SubClassOf 'derives_from' some ('induced pluripotent stem cell' and ('part_of' some ('prepuce of penis' and ('part_of' some 'Homo sapiens')))) http://www.orpha.net/ORDO/Orphanet_3032 NPHP3-related Meckel-like syndrome 'NPHP3-related Meckel-like syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'NPHP3-related Meckel-like syndrome' SubClassOf 'Genetic syndrome with a Dandy-Walker malformation as major feature' 'NPHP3-related Meckel-like syndrome' SubClassOf 'Meckel syndrome' 'NPHP3-related Meckel-like syndrome' SubClassOf 'Genetic syndrome with a Dandy-Walker malformation as major feature' http://www.orpha.net/ORDO/Orphanet_99812 LIG4 syndrome 'LIG4 syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'LIG4 syndrome' SubClassOf 'Combined T and B cell immunodeficiency' 'LIG4 syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'LIG4 syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'LIG4 syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018814 'LIG4 syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' http://purl.obolibrary.org/obo/CHEBI_36457 homocitrate (3-) 'homocitrate (3-)' SubClassOf 'chemical entity' 'homocitrate (3-)' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_36458 homocitrate (2-) 'homocitrate (2-)' SubClassOf 'chemical entity' 'homocitrate (2-)' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_36459 homocitrate (-1) 'homocitrate (-1)' SubClassOf 'chemical entity' 'homocitrate (-1)' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_3038 Delayed speech - facial asymmetry - strabismus - ear lobe creases 'Delayed speech - facial asymmetry - strabismus - ear lobe creases' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Delayed speech - facial asymmetry - strabismus - ear lobe creases' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Delayed speech - facial asymmetry - strabismus - ear lobe creases' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Delayed speech - facial asymmetry - strabismus - ear lobe creases' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 http://www.orpha.net/ORDO/Orphanet_99819 Familial gestational hyperthyroidism 'Familial gestational hyperthyroidism' SubClassOf 'Genetic hypertension' 'Familial gestational hyperthyroidism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024664 'Familial gestational hyperthyroidism' SubClassOf 'Genetic hypertension' 'Familial gestational hyperthyroidism' SubClassOf 'Hyperthyroidism' http://www.orpha.net/ORDO/Orphanet_99818 Turcot syndrome with polyposis 'Turcot syndrome with polyposis' SubClassOf 'Familial adenomatous polyposis' 'Turcot syndrome with polyposis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021248 'Turcot syndrome with polyposis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016756 'Turcot syndrome with polyposis' SubClassOf 'Familial adenomatous polyposis' 'Turcot syndrome with polyposis' SubClassOf 'Rare genetic neurological disorder' http://purl.obolibrary.org/obo/UBERON_0006860 swim bladder 'swim bladder' SubClassOf 'develops_from' some 'embryo' http://www.orpha.net/ORDO/Orphanet_284180 Xp22.13p22.2 duplication syndrome 'Xp22.13p22.2 duplication syndrome' SubClassOf 'Partial duplication of the short arm of chromosome X' 'Xp22.13p22.2 duplication syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Xp22.13p22.2 duplication syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Xp22.13p22.2 duplication syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Xp22.13p22.2 duplication syndrome' SubClassOf 'Partial duplication of the short arm of chromosome X' 'Xp22.13p22.2 duplication syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/UBERON_0004203 cortical collecting duct 'cortical collecting duct' SubClassOf 'cortex of kidney' 'cortical collecting duct' SubClassOf 'cortex of kidney' http://purl.obolibrary.org/obo/UBERON_0006865 metaphysis of femur 'metaphysis of femur' SubClassOf 'femur' 'metaphysis of femur' SubClassOf 'femur' http://purl.obolibrary.org/obo/UBERON_0006862 diaphysis of femur 'diaphysis of femur' SubClassOf 'femur' 'diaphysis of femur' SubClassOf 'femur' http://www.orpha.net/ORDO/Orphanet_320406 Spastic paraplegia-optic atrophy-neuropathy syndrome 'Spastic paraplegia-optic atrophy-neuropathy syndrome' SubClassOf 'Hereditary motor and sensory neuropathy' 'Spastic paraplegia-optic atrophy-neuropathy syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018550 http://www.orpha.net/ORDO/Orphanet_97249 Pontocerebellar hypoplasia type 3 'Pontocerebellar hypoplasia type 3' SubClassOf 'Non-syndromic pontocerebellar hypoplasia' 'Pontocerebellar hypoplasia type 3' SubClassOf 'Non-syndromic pontocerebellar hypoplasia' http://purl.obolibrary.org/obo/CHEBI_35212 apratoxin A 'apratoxin A' SubClassOf 'has_role' some 'toxin' http://purl.obolibrary.org/obo/CHEBI_50845 doxycycline 'doxycycline' SubClassOf 'has_role' some 'antimicrobial agent' 'doxycycline' SubClassOf 'has_role' some 'antibacterial drug' http://purl.obolibrary.org/obo/CHEBI_50842 norflurazon 'norflurazon' SubClassOf 'has_role' some 'agrochemical role' http://www.orpha.net/ORDO/Orphanet_98584 Malignant tumor of palpebral epidermis 'Malignant tumor of palpebral epidermis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021313 'Malignant tumor of palpebral epidermis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 'Malignant tumor of palpebral epidermis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020172 http://www.orpha.net/ORDO/Orphanet_98583 Precancerous lesion of palpebral epidermis 'Precancerous lesion of palpebral epidermis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 'Precancerous lesion of palpebral epidermis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020172 'Precancerous lesion of palpebral epidermis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021074 http://www.orpha.net/ORDO/Orphanet_98586 Pigmented palpebral tumor 'Pigmented palpebral tumor' SubClassOf 'eyelid neoplasm' 'Pigmented palpebral tumor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 http://www.orpha.net/ORDO/Orphanet_98585 Palpebral sebaceous gland tumor 'Palpebral sebaceous gland tumor' SubClassOf 'eyelid neoplasm' 'Palpebral sebaceous gland tumor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 'Palpebral sebaceous gland tumor' SubClassOf 'sebaceous gland neoplasm' http://www.orpha.net/ORDO/Orphanet_98588 Palpebral nevus 'Palpebral nevus' SubClassOf 'Pigmented palpebral tumor' 'Palpebral nevus' SubClassOf 'melanocytic nevus' 'Palpebral nevus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020173 'Palpebral nevus' SubClassOf 'Pigmented palpebral tumor' http://www.orpha.net/ORDO/Orphanet_98587 Palpebral lentiginosis 'Palpebral lentiginosis' SubClassOf 'Pigmented palpebral tumor' 'Palpebral lentiginosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020173 'Palpebral lentiginosis' SubClassOf 'Pigmented palpebral tumor' 'Palpebral lentiginosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021582 http://www.orpha.net/ORDO/Orphanet_320411 Autosomal recessive spastic paraplegia type 56 'Autosomal recessive spastic paraplegia type 56' SubClassOf 'Pure or complex autosomal recessive spastic paraplegia' 'Autosomal recessive spastic paraplegia type 56' SubClassOf 'Pure or complex autosomal recessive spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_261476 Monosomy Xp21 'Monosomy Xp21' SubClassOf 'Partial monosomy of the short arm of chromosome X' 'Monosomy Xp21' SubClassOf 'Glycerol kinase deficiency' 'Monosomy Xp21' SubClassOf 'Partial monosomy of the short arm of chromosome X' 'Monosomy Xp21' SubClassOf 'Glycerol kinase deficiency' 'Monosomy Xp21' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000761 'Monosomy Xp21' SubClassOf 'Developmental anomaly of metabolic origin' http://purl.obolibrary.org/obo/CLO_0035232 AG05416 'AG05416' SubClassOf 'cultured cell' 'AG05416' SubClassOf 'has_quality' some 'male' 'AG05416' SubClassOf 'derives_from' some ('fibroblast' and ('part_of' some ('arm' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/CHEBI_35221 antimetabolite role 'antimetabolite role' SubClassOf 'inheres_in' some 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_35222 inhibitor role 'inhibitor role' SubClassOf 'inheres_in' some 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_37887 adrenergic antagonist 'adrenergic antagonist' SubClassOf 'inheres_in' some 'chemical entity' http://www.orpha.net/ORDO/Orphanet_98595 Eyebrow/eyelashes hypertrichosis 'Eyebrow/eyelashes hypertrichosis' SubClassOf 'Rare eyebrow/eyelashes anomaly' 'Eyebrow/eyelashes hypertrichosis' SubClassOf 'Rare eyebrow/eyelashes anomaly' http://www.orpha.net/ORDO/Orphanet_98594 Rare eyebrow/eyelashes anomaly 'Rare eyebrow/eyelashes anomaly' SubClassOf 'eyelid disease' 'Rare eyebrow/eyelashes anomaly' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://www.orpha.net/ORDO/Orphanet_73272 Growth delay due to insulin-like growth factor type 1 deficiency 'Growth delay due to insulin-like growth factor type 1 deficiency' SubClassOf 'Growth hormone insensitivity syndrome' 'Growth delay due to insulin-like growth factor type 1 deficiency' SubClassOf 'Growth hormone insensitivity syndrome' http://www.orpha.net/ORDO/Orphanet_98597 Eyelashes hypertrophy 'Eyelashes hypertrophy' SubClassOf 'Rare eyebrow/eyelashes anomaly' 'Eyelashes hypertrophy' SubClassOf 'Rare eyebrow/eyelashes anomaly' http://www.orpha.net/ORDO/Orphanet_98596 Eyebrow hypertrophy 'Eyebrow hypertrophy' SubClassOf 'Rare eyebrow/eyelashes anomaly' 'Eyebrow hypertrophy' SubClassOf 'Rare eyebrow/eyelashes anomaly' http://www.orpha.net/ORDO/Orphanet_262794 Partial duplication of the short arm of chromosome 16 'Partial duplication of the short arm of chromosome 16' SubClassOf 'Partial duplication of chromosome 16' 'Partial duplication of the short arm of chromosome 16' SubClassOf 'Partial duplication of chromosome 16' http://www.orpha.net/ORDO/Orphanet_73273 Growth delay due to insulin-like growth factor I resistance 'Growth delay due to insulin-like growth factor I resistance' SubClassOf 'Growth hormone insensitivity syndrome' 'Growth delay due to insulin-like growth factor I resistance' SubClassOf 'Growth hormone insensitivity syndrome' http://www.orpha.net/ORDO/Orphanet_98599 Eyebrow/eyelashes structural anomaly 'Eyebrow/eyelashes structural anomaly' SubClassOf 'Rare eyebrow/eyelashes anomaly' 'Eyebrow/eyelashes structural anomaly' SubClassOf 'Rare eyebrow/eyelashes anomaly' http://www.orpha.net/ORDO/Orphanet_98598 Congenital absence of the eyebrow/eyelashes 'Congenital absence of the eyebrow/eyelashes' SubClassOf 'Rare eyebrow/eyelashes anomaly' 'Congenital absence of the eyebrow/eyelashes' SubClassOf 'Rare eyebrow/eyelashes anomaly' http://www.orpha.net/ORDO/Orphanet_320401 Autosomal recessive spastic paraplegia type 44 'Autosomal recessive spastic paraplegia type 44' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Autosomal recessive spastic paraplegia type 44' SubClassOf 'Autosomal recessive complex spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_98591 Mesenchymatous palpebral tumor 'Mesenchymatous palpebral tumor' SubClassOf 'eyelid neoplasm' 'Mesenchymatous palpebral tumor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 http://www.orpha.net/ORDO/Orphanet_73271 Bleeding diathesis due to a collagen receptor defect 'Bleeding diathesis due to a collagen receptor defect' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044977 'Bleeding diathesis due to a collagen receptor defect' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017142 http://www.orpha.net/ORDO/Orphanet_98590 Palpebral piliary tumor 'Palpebral piliary tumor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 'Palpebral piliary tumor' SubClassOf 'eyelid neoplasm' http://www.orpha.net/ORDO/Orphanet_98593 Neurogenic palpebral tumor 'Neurogenic palpebral tumor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 'Neurogenic palpebral tumor' SubClassOf 'eyelid neoplasm' http://www.orpha.net/ORDO/Orphanet_98592 Palpebral tumor with a vascular malformation 'Palpebral tumor with a vascular malformation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 'Palpebral tumor with a vascular malformation' SubClassOf 'eyelid neoplasm' http://www.orpha.net/ORDO/Orphanet_3102 Richieri Costa-Pereira syndrome 'Richieri Costa-Pereira syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Richieri Costa-Pereira syndrome' SubClassOf 'Orofacial clefting syndrome' 'Richieri Costa-Pereira syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Richieri Costa-Pereira syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 'Richieri Costa-Pereira syndrome' SubClassOf 'Orofacial clefting syndrome' http://www.orpha.net/ORDO/Orphanet_3101 Richieri Costa-da Silva syndrome 'Richieri Costa-da Silva syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Richieri Costa-da Silva syndrome' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Richieri Costa-da Silva syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Richieri Costa-da Silva syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 'Richieri Costa-da Silva syndrome' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_3109 Mayer-Rokitansky-Küster-Hauser syndrome 'Mayer-Rokitansky-Küster-Hauser syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Mayer-Rokitansky-Küster-Hauser syndrome' SubClassOf 'Partial bilateral aplasia of the Müllerian ducts' 'Mayer-Rokitansky-Küster-Hauser syndrome' SubClassOf 'Female infertility due to an implantation defect of genetic origin' 'Mayer-Rokitansky-Küster-Hauser syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015846 'Mayer-Rokitansky-Küster-Hauser syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Mayer-Rokitansky-Küster-Hauser syndrome' SubClassOf 'Partial bilateral aplasia of the Müllerian ducts' 'Mayer-Rokitansky-Küster-Hauser syndrome' SubClassOf 'Syndromic urogenital tract malformation' 'Mayer-Rokitansky-Küster-Hauser syndrome' SubClassOf 'Female infertility due to an implantation defect of genetic origin' http://www.orpha.net/ORDO/Orphanet_3107 Autosomal dominant Robinow syndrome 'Autosomal dominant Robinow syndrome' SubClassOf 'Robinow syndrome' 'Autosomal dominant Robinow syndrome' SubClassOf 'Robinow syndrome' 'Autosomal dominant Robinow syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 http://www.orpha.net/ORDO/Orphanet_3105 Robinow-like syndrome 'Robinow-like syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007 http://www.orpha.net/ORDO/Orphanet_3104 Robin sequence - oligodactyly 'Robin sequence - oligodactyly' SubClassOf 'Orofacial clefting syndrome' 'Robin sequence - oligodactyly' SubClassOf 'Orofacial clefting syndrome' http://www.orpha.net/ORDO/Orphanet_3103 Roberts syndrome 'Roberts syndrome' SubClassOf 'Musculoskeletal disease with cataract' 'Roberts syndrome' SubClassOf 'Orofacial clefting syndrome' 'Roberts syndrome' SubClassOf 'Genetic syndrome with limb reduction defects' 'Roberts syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 'Roberts syndrome' SubClassOf 'Musculoskeletal disease with cataract' 'Roberts syndrome' SubClassOf 'autosomal recessive disease' 'Roberts syndrome' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' 'Roberts syndrome' SubClassOf 'Rare genetic neurological disorder' 'Roberts syndrome' SubClassOf 'Orofacial clefting syndrome' 'Roberts syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Roberts syndrome' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'Roberts syndrome' SubClassOf 'Genetic syndrome with limb reduction defects' http://www.orpha.net/ORDO/Orphanet_262785 Partial duplication of the short arm of chromosome 11 'Partial duplication of the short arm of chromosome 11' SubClassOf 'Partial duplication of chromosome 11' 'Partial duplication of the short arm of chromosome 11' SubClassOf 'Partial duplication of chromosome 11' http://purl.obolibrary.org/obo/FMA_66762 synovial membrane 'synovial membrane' SubClassOf 'part_of' some 'skeletal joint' http://www.orpha.net/ORDO/Orphanet_3111 Rotor syndrome 'Rotor syndrome' SubClassOf 'Disorder of bilirubin metabolism and excretion' 'Rotor syndrome' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Rotor syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002408 http://www.orpha.net/ORDO/Orphanet_3110 Rombo syndrome 'Rombo syndrome' SubClassOf 'Genetic skin tumor' 'Rombo syndrome' SubClassOf 'Genetic skin tumor' http://www.orpha.net/ORDO/Orphanet_284139 Larsen-like syndrome, B3GAT3 type 'Larsen-like syndrome, B3GAT3 type' SubClassOf 'Congenital disorder of glycosylation-related bone disorder' 'Larsen-like syndrome, B3GAT3 type' SubClassOf 'Congenital disorder of glycosylation with cardiac malformation as a major feature' 'Larsen-like syndrome, B3GAT3 type' SubClassOf 'Primary bone dysplasia with multiple joint dislocations' 'Larsen-like syndrome, B3GAT3 type' SubClassOf 'Disorder of O-xylosylglycan synthesis' 'Larsen-like syndrome, B3GAT3 type' SubClassOf 'Malformation syndrome with connective tissue involvement' 'Larsen-like syndrome, B3GAT3 type' SubClassOf 'Congenital disorder of glycosylation-related bone disorder' 'Larsen-like syndrome, B3GAT3 type' SubClassOf 'Congenital disorder of glycosylation with cardiac malformation as a major feature' 'Larsen-like syndrome, B3GAT3 type' SubClassOf 'Disorder of O-xylosylglycan synthesis' 'Larsen-like syndrome, B3GAT3 type' SubClassOf 'Primary bone dysplasia with multiple joint dislocations' 'Larsen-like syndrome, B3GAT3 type' SubClassOf 'Malformation syndrome with connective tissue involvement' http://www.orpha.net/ORDO/Orphanet_262767 Partial trisomy of the short arm of chromosome 9 'Partial trisomy of the short arm of chromosome 9' SubClassOf 'Partial trisomy/tetrasomy of chromosome 9' 'Partial trisomy of the short arm of chromosome 9' SubClassOf 'Partial trisomy/tetrasomy of chromosome 9' http://www.orpha.net/ORDO/Orphanet_3115 Roussy-Lévy syndrome 'Roussy-Lévy syndrome' SubClassOf 'Autosomal dominant hereditary demyelinating motor and sensory neuropathy' 'Roussy-Lévy syndrome' SubClassOf 'Autosomal dominant hereditary demyelinating motor and sensory neuropathy' http://www.orpha.net/ORDO/Orphanet_97286 Carney-Stratakis syndrome 'Carney-Stratakis syndrome' SubClassOf 'Multiple polyglandular tumor' 'Carney-Stratakis syndrome' SubClassOf 'Multiple polyglandular tumor' 'Carney-Stratakis syndrome' SubClassOf 'Inherited cancer-predisposing syndrome' http://www.orpha.net/ORDO/Orphanet_262776 Partial duplication of the short arm of chromosome 10 'Partial duplication of the short arm of chromosome 10' SubClassOf 'Partial duplication of chromosome 10' 'Partial duplication of the short arm of chromosome 10' SubClassOf 'Partial duplication of chromosome 10' http://www.orpha.net/ORDO/Orphanet_284149 Craniosynostosis and dental anomalies 'Craniosynostosis and dental anomalies' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Craniosynostosis and dental anomalies' SubClassOf 'Syndromic craniosynostosis' 'Craniosynostosis and dental anomalies' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Craniosynostosis and dental anomalies' SubClassOf 'Syndromic craniosynostosis' http://www.orpha.net/ORDO/Orphanet_98539 Early-onset ataxia with dementia 'Early-onset ataxia with dementia' SubClassOf 'Ataxia with dementia' 'Early-onset ataxia with dementia' SubClassOf 'Ataxia with dementia' http://www.orpha.net/ORDO/Orphanet_98538 Ataxia with dementia 'Ataxia with dementia' SubClassOf 'Genetic neurodegenerative disease with dementia' 'Ataxia with dementia' SubClassOf 'Genetic neurodegenerative disease with dementia' http://www.orpha.net/ORDO/Orphanet_98540 Late-onset ataxia with dementia 'Late-onset ataxia with dementia' SubClassOf 'Ataxia with dementia' 'Late-onset ataxia with dementia' SubClassOf 'Ataxia with dementia' http://purl.obolibrary.org/obo/UBERON_0005582 rhombomere 6 floor plate 'rhombomere 6 floor plate' SubClassOf 'zebrafish component' 'rhombomere 6 floor plate' SubClassOf http://purl.obolibrary.org/obo/UBERON_0005500 'rhombomere 6 floor plate' SubClassOf 'part_of' some 'rhombomere 6' http://www.orpha.net/ORDO/Orphanet_99875 Ehlers-Danlos syndrome type 7A 'Ehlers-Danlos syndrome type 7A' SubClassOf 'Ehlers-Danlos syndrome, arthrochalasic type' 'Ehlers-Danlos syndrome type 7A' SubClassOf 'Ehlers-Danlos syndrome, arthrochalasic type' http://www.orpha.net/ORDO/Orphanet_98543 Metabolic disease with dementia 'Metabolic disease with dementia' SubClassOf 'Genetic dementia' 'Metabolic disease with dementia' SubClassOf 'Genetic dementia' 'Metabolic disease with dementia' SubClassOf 'Inborn errors of metabolism' http://www.orpha.net/ORDO/Orphanet_99877 Familial parathyroid adenoma 'Familial parathyroid adenoma' SubClassOf 'parathyroid adenoma' 'Familial parathyroid adenoma' EquivalentTo 'parathyroid adenoma' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) http://www.orpha.net/ORDO/Orphanet_99876 Ehlers-Danlos syndrome type 7B 'Ehlers-Danlos syndrome type 7B' SubClassOf 'Ehlers-Danlos syndrome, arthrochalasic type' 'Ehlers-Danlos syndrome type 7B' SubClassOf 'Ehlers-Danlos syndrome, arthrochalasic type' http://purl.obolibrary.org/obo/UBERON_0005588 rhombomere 8 floor plate 'rhombomere 8 floor plate' SubClassOf 'zebrafish component' 'rhombomere 8 floor plate' SubClassOf 'part_of' some 'rhombomere 8' 'rhombomere 8 floor plate' SubClassOf http://purl.obolibrary.org/obo/UBERON_0005500 http://purl.obolibrary.org/obo/UBERON_0005585 rhombomere 7 floor plate 'rhombomere 7 floor plate' SubClassOf 'zebrafish component' 'rhombomere 7 floor plate' SubClassOf 'part_of' some 'rhombomere 7' 'rhombomere 7 floor plate' SubClassOf http://purl.obolibrary.org/obo/UBERON_0005500 http://www.orpha.net/ORDO/Orphanet_85295 HSD10 disease, atypical type 'HSD10 disease, atypical type' SubClassOf 'HSD10 disease' 'HSD10 disease, atypical type' SubClassOf 'HSD10 disease' http://purl.obolibrary.org/obo/CHEBI_25858 1,7-dimethylxanthine '1,7-dimethylxanthine' SubClassOf 'chemical entity' '1,7-dimethylxanthine' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_85297 X-linked spinocerebellar ataxia type 3 'X-linked spinocerebellar ataxia type 3' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked spinocerebellar ataxia type 3' SubClassOf 'X-linked cerebellar ataxia' 'X-linked spinocerebellar ataxia type 3' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked spinocerebellar ataxia type 3' SubClassOf 'X-linked cerebellar ataxia' http://www.orpha.net/ORDO/Orphanet_99879 Familial isolated hyperparathyroidism 'Familial isolated hyperparathyroidism' SubClassOf 'Familial primary hyperparathyroidism' 'Familial isolated hyperparathyroidism' SubClassOf 'Inherited cancer-predisposing syndrome' 'Familial isolated hyperparathyroidism' SubClassOf 'Familial primary hyperparathyroidism' http://www.orpha.net/ORDO/Orphanet_99878 Primary parathyroids hyperplasia 'Primary parathyroids hyperplasia' SubClassOf 'Familial primary hyperparathyroidism' 'Primary parathyroids hyperplasia' SubClassOf 'Familial primary hyperparathyroidism' http://www.orpha.net/ORDO/Orphanet_85290 X-linked intellectual disability, Wilson type 'X-linked intellectual disability, Wilson type' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability, Wilson type' SubClassOf 'X-linked syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_85292 X-linked spinocerebellar ataxia type 4 'X-linked spinocerebellar ataxia type 4' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked spinocerebellar ataxia type 4' SubClassOf 'X-linked cerebellar ataxia' 'X-linked spinocerebellar ataxia type 4' SubClassOf 'Genetic neurodegenerative disease' 'X-linked spinocerebellar ataxia type 4' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked spinocerebellar ataxia type 4' SubClassOf 'X-linked cerebellar ataxia' http://www.orpha.net/ORDO/Orphanet_85294 X-linked epilepsy - learning disabilities - behavior disorders 'X-linked epilepsy - learning disabilities - behavior disorders' SubClassOf 'Monogenic disease with epilepsy' 'X-linked epilepsy - learning disabilities - behavior disorders' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked epilepsy - learning disabilities - behavior disorders' SubClassOf 'Monogenic disease with epilepsy' 'X-linked epilepsy - learning disabilities - behavior disorders' SubClassOf 'X-linked syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_85293 X-linked intellectual disability, Cabezas type 'X-linked intellectual disability, Cabezas type' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability, Cabezas type' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'X-linked intellectual disability, Cabezas type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'X-linked intellectual disability, Cabezas type' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability, Cabezas type' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/UBERON_0004264 lower leg skin 'lower leg skin' SubClassOf 'zone of skin' 'lower leg skin' SubClassOf 'part_of' some 'zone of skin' 'lower leg skin' SubClassOf 'part_of' some 'zeugopod' 'lower leg skin' SubClassOf http://purl.obolibrary.org/obo/UBERON_0001511 'lower leg skin' SubClassOf 'part_of' some 'hindlimb' http://www.orpha.net/ORDO/Orphanet_99886 Transient neonatal diabetes mellitus 'Transient neonatal diabetes mellitus' SubClassOf 'Neonatal diabetes mellitus' 'Transient neonatal diabetes mellitus' SubClassOf 'Neonatal diabetes mellitus' http://www.orpha.net/ORDO/Orphanet_98554 Major induction processes eye anomaly 'Major induction processes eye anomaly' SubClassOf 'Genetic developmental defect of the eye' 'Major induction processes eye anomaly' SubClassOf 'Genetic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_99885 Permanent neonatal diabetes mellitus 'Permanent neonatal diabetes mellitus' SubClassOf 'Neonatal diabetes mellitus' 'Permanent neonatal diabetes mellitus' SubClassOf 'Neonatal diabetes mellitus' http://www.orpha.net/ORDO/Orphanet_98557 Syndromic aniridia 'Syndromic aniridia' SubClassOf 'Aniridia' 'Syndromic aniridia' SubClassOf 'Syndromic cataract' 'Syndromic aniridia' SubClassOf 'Syndromic developmental defect of the eye' 'Syndromic aniridia' SubClassOf 'Aniridia' 'Syndromic aniridia' SubClassOf 'Iridogoniodysgenesis' 'Syndromic aniridia' EquivalentTo 'Aniridia' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021127) 'Syndromic aniridia' SubClassOf 'Syndromic cataract' http://www.orpha.net/ORDO/Orphanet_99880 Hyperparathyroidism-jaw tumor syndrome 'Hyperparathyroidism-jaw tumor syndrome' SubClassOf 'Familial primary hyperparathyroidism' 'Hyperparathyroidism-jaw tumor syndrome' SubClassOf 'Inherited renal cancer-predisposing syndrome' 'Hyperparathyroidism-jaw tumor syndrome' SubClassOf 'Familial primary hyperparathyroidism' 'Hyperparathyroidism-jaw tumor syndrome' SubClassOf 'Inherited renal cancer-predisposing syndrome' 'Hyperparathyroidism-jaw tumor syndrome' SubClassOf 'Genetic renal tumor' http://www.orpha.net/ORDO/Orphanet_85285 X-linked intellectual disability, Schimke type 'X-linked intellectual disability, Schimke type' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability, Schimke type' SubClassOf 'X-linked syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_85284 BRESEK syndrome 'BRESEK syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'BRESEK syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'BRESEK syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'BRESEK syndrome' SubClassOf 'Ichthyosis follicularis - alopecia - photophobia' 'BRESEK syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'BRESEK syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_85287 X-linked intellectual disability, Siderius type 'X-linked intellectual disability, Siderius type' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'X-linked intellectual disability, Siderius type' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability, Siderius type' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'X-linked intellectual disability, Siderius type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'X-linked intellectual disability, Siderius type' SubClassOf 'X-linked syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_85286 X-linked intellectual disability, Shashi type 'X-linked intellectual disability, Shashi type' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'X-linked intellectual disability, Shashi type' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability, Shashi type' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'X-linked intellectual disability, Shashi type' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability, Shashi type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 http://www.orpha.net/ORDO/Orphanet_85288 X-linked intellectual disability, Stocco Dos Santos type 'X-linked intellectual disability, Stocco Dos Santos type' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability, Stocco Dos Santos type' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/CHEBI_74753 Pro-Ala 'Pro-Ala' SubClassOf 'amide' 'Pro-Ala' SubClassOf 'amide' http://www.orpha.net/ORDO/Orphanet_98558 Rare eye disease due to a differentiation anomaly 'Rare eye disease due to a differentiation anomaly' SubClassOf 'Genetic developmental defect of the eye' 'Rare eye disease due to a differentiation anomaly' SubClassOf 'Genetic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_97229 Riboflavin transporter deficiency 'Riboflavin transporter deficiency' SubClassOf 'Syndromic genetic deafness' 'Riboflavin transporter deficiency' SubClassOf 'Bulbospinal muscular atrophy of children' 'Riboflavin transporter deficiency' SubClassOf 'Syndromic genetic deafness' 'Riboflavin transporter deficiency' SubClassOf 'Bulbospinal muscular atrophy of children' 'Riboflavin transporter deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044975 http://www.orpha.net/ORDO/Orphanet_85280 X-linked intellectual disability - cubitus valgus - dysmorphism 'X-linked intellectual disability - cubitus valgus - dysmorphism' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability - cubitus valgus - dysmorphism' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'X-linked intellectual disability - cubitus valgus - dysmorphism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'X-linked intellectual disability - cubitus valgus - dysmorphism' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability - cubitus valgus - dysmorphism' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_85282 MEHMO syndrome 'MEHMO syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'MEHMO syndrome' SubClassOf 'Syndromic obesity' 'MEHMO syndrome' SubClassOf 'Mitochondrial disease with peripheral neuropathy' 'MEHMO syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'MEHMO syndrome' SubClassOf 'Syndromic obesity' 'MEHMO syndrome' SubClassOf 'Mitochondrial disease with peripheral neuropathy' 'MEHMO syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016402 'MEHMO syndrome' SubClassOf 'Monogenic disease with epilepsy' http://www.orpha.net/ORDO/Orphanet_98562 Cryptophthalmia 'Cryptophthalmia' SubClassOf 'Eyelid malformation' 'Cryptophthalmia' SubClassOf 'Eyelid malformation' http://www.orpha.net/ORDO/Orphanet_97231 Ligneous conjunctivitis 'Ligneous conjunctivitis' SubClassOf 'conjunctivitis' 'Ligneous conjunctivitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002314 'Ligneous conjunctivitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015937 'Ligneous conjunctivitis' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://www.orpha.net/ORDO/Orphanet_98561 Eyelid malformation 'Eyelid malformation' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Eyelid malformation' SubClassOf 'eyelid disease' http://www.orpha.net/ORDO/Orphanet_98564 Eyelid border anomaly 'Eyelid border anomaly' SubClassOf 'Eyelid malformation' 'Eyelid border anomaly' SubClassOf 'Eyelid malformation' http://www.orpha.net/ORDO/Orphanet_97232 Fingerprint body myopathy 'Fingerprint body myopathy' SubClassOf 'Congenital myopathy' 'Fingerprint body myopathy' SubClassOf 'Congenital myopathy' http://www.orpha.net/ORDO/Orphanet_98563 Microblepharon - ablephara 'Microblepharon - ablephara' SubClassOf 'Eyelid malformation' 'Microblepharon - ablephara' SubClassOf 'Eyelid malformation' http://www.orpha.net/ORDO/Orphanet_98566 Syndromic palpebral coloboma 'Syndromic palpebral coloboma' SubClassOf 'Eyelid border anomaly' 'Syndromic palpebral coloboma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Syndromic palpebral coloboma' SubClassOf 'Eyelid border anomaly' http://www.orpha.net/ORDO/Orphanet_97234 Glycogen storage disease due to phosphoglycerate mutase deficiency 'Glycogen storage disease due to phosphoglycerate mutase deficiency' SubClassOf 'Muscular glycogenosis' 'Glycogen storage disease due to phosphoglycerate mutase deficiency' SubClassOf 'Glycogen storage disease' 'Glycogen storage disease due to phosphoglycerate mutase deficiency' SubClassOf 'Muscular glycogenosis' 'Glycogen storage disease due to phosphoglycerate mutase deficiency' SubClassOf 'Glycogen storage disease' http://www.orpha.net/ORDO/Orphanet_98565 Syndromic ankyloblepharon 'Syndromic ankyloblepharon' SubClassOf 'Eyelid border anomaly' 'Syndromic ankyloblepharon' SubClassOf 'Eyelid border anomaly' http://www.orpha.net/ORDO/Orphanet_98568 Congenital entropion 'Congenital entropion' SubClassOf 'Eyelids malposition disorder' 'Congenital entropion' SubClassOf 'Eyelids malposition disorder' 'Congenital entropion' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001519 http://www.orpha.net/ORDO/Orphanet_98567 Eyelids malposition disorder 'Eyelids malposition disorder' SubClassOf 'eyelid disease' 'Eyelids malposition disorder' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://www.orpha.net/ORDO/Orphanet_99898 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency 'Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency' SubClassOf 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency' 'Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency' SubClassOf 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency' 'Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0008856 http://www.orpha.net/ORDO/Orphanet_261494 Kleefstra syndrome 'Kleefstra syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Kleefstra syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Kleefstra syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Kleefstra syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 http://www.orpha.net/ORDO/Orphanet_98560 Rare palpebral disease 'Rare palpebral disease' SubClassOf 'eye adnexa disease' http://www.orpha.net/ORDO/Orphanet_85274 Syndromic X-linked intellectual disability 7 'Syndromic X-linked intellectual disability 7' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Syndromic X-linked intellectual disability 7' SubClassOf 'X-linked syndromic intellectual disability' 'Syndromic X-linked intellectual disability 7' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Syndromic X-linked intellectual disability 7' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Syndromic X-linked intellectual disability 7' SubClassOf 'X-linked syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_85273 X-linked intellectual disability, Abidi type 'X-linked intellectual disability, Abidi type' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability, Abidi type' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'X-linked intellectual disability, Abidi type' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability, Abidi type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'X-linked intellectual disability, Abidi type' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/CLO_0035254 AG06237 'AG06237' SubClassOf 'derives_from' some ('fibroblast' and ('part_of' some ('arm' and ('part_of' some 'Homo sapiens')))) 'AG06237' SubClassOf 'cultured cell' 'AG06237' SubClassOf 'has_quality' some 'male' http://www.orpha.net/ORDO/Orphanet_85275 Microphthalmia - ankyloblepharon - intellectual disability 'Microphthalmia - ankyloblepharon - intellectual disability' SubClassOf 'X-linked syndromic intellectual disability' 'Microphthalmia - ankyloblepharon - intellectual disability' SubClassOf 'Syndromic microphthalmia' 'Microphthalmia - ankyloblepharon - intellectual disability' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Microphthalmia - ankyloblepharon - intellectual disability' SubClassOf 'X-linked syndromic intellectual disability' 'Microphthalmia - ankyloblepharon - intellectual disability' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Microphthalmia - ankyloblepharon - intellectual disability' SubClassOf 'Syndromic microphthalmia' http://www.orpha.net/ORDO/Orphanet_85278 Christianson syndrome 'Christianson syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Christianson syndrome' SubClassOf 'X-linked cerebellar ataxia' 'Christianson syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Christianson syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Christianson syndrome' SubClassOf 'Cerebral malformation with epilepsy' 'Christianson syndrome' SubClassOf 'X-linked cerebellar ataxia' 'Christianson syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_85277 X-linked intellectual disability, Cantagrel type 'X-linked intellectual disability, Cantagrel type' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability, Cantagrel type' SubClassOf 'X-linked syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_85279 Syndromic X-linked intellectual disability due to JARID1C mutation 'Syndromic X-linked intellectual disability due to JARID1C mutation' SubClassOf 'Monogenic disease with epilepsy' 'Syndromic X-linked intellectual disability due to JARID1C mutation' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Syndromic X-linked intellectual disability due to JARID1C mutation' SubClassOf 'X-linked syndromic intellectual disability' 'Syndromic X-linked intellectual disability due to JARID1C mutation' SubClassOf 'Monogenic disease with epilepsy' 'Syndromic X-linked intellectual disability due to JARID1C mutation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Syndromic X-linked intellectual disability due to JARID1C mutation' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Syndromic X-linked intellectual disability due to JARID1C mutation' SubClassOf 'X-linked syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_98569 Secondary entropion 'Secondary entropion' SubClassOf 'Congenital entropion' 'Secondary entropion' SubClassOf 'Congenital entropion' http://www.orpha.net/ORDO/Orphanet_97239 Reducing body myopathy 'Reducing body myopathy' SubClassOf 'Congenital myopathy' 'Reducing body myopathy' SubClassOf 'Congenital myopathy' http://purl.obolibrary.org/obo/CHEBI_74767 Pro-Hyp 'Pro-Hyp' SubClassOf 'amide' 'Pro-Hyp' SubClassOf 'amide' http://www.orpha.net/ORDO/Orphanet_98573 Epicanthal fold 'Epicanthal fold' SubClassOf 'Canthal anomaly' 'Epicanthal fold' SubClassOf 'Canthal anomaly' http://www.orpha.net/ORDO/Orphanet_97242 Congenital muscular dystrophy 'Congenital muscular dystrophy' SubClassOf 'Muscular dystrophy' 'Congenital muscular dystrophy' SubClassOf 'Muscular dystrophy' http://www.orpha.net/ORDO/Orphanet_98572 Canthal anomaly 'Canthal anomaly' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Canthal anomaly' SubClassOf 'eyelid disease' http://www.orpha.net/ORDO/Orphanet_98575 Telecanthus 'Telecanthus' SubClassOf 'Canthal anomaly' 'Telecanthus' SubClassOf 'Canthal anomaly' http://www.orpha.net/ORDO/Orphanet_98574 Syndromic epicanthus 'Syndromic epicanthus' SubClassOf 'Epicanthal fold' 'Syndromic epicanthus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Syndromic epicanthus' SubClassOf 'Epicanthal fold' http://www.orpha.net/ORDO/Orphanet_97244 Rigid spine syndrome 'Rigid spine syndrome' SubClassOf 'Congenital muscular dystrophy' 'Rigid spine syndrome' SubClassOf 'Qualitative or quantitative defects of selenoprotein N1' 'Rigid spine syndrome' SubClassOf 'Qualitative or quantitative defects of desmin' 'Rigid spine syndrome' SubClassOf 'Congenital muscular dystrophy' 'Rigid spine syndrome' SubClassOf 'Qualitative or quantitative defects of selenoprotein N1' 'Rigid spine syndrome' SubClassOf 'Qualitative or quantitative defects of desmin' http://www.orpha.net/ORDO/Orphanet_97245 Congenital myopathy 'Congenital myopathy' SubClassOf 'Non-dystrophic myopathy' 'Congenital myopathy' SubClassOf 'Non-dystrophic myopathy' http://www.orpha.net/ORDO/Orphanet_98577 Kinetic eyelid anomaly 'Kinetic eyelid anomaly' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Kinetic eyelid anomaly' SubClassOf 'eyelid disease' http://purl.obolibrary.org/obo/BTO_0000407 osteosarcoma cell line 'osteosarcoma cell line' SubClassOf 'cultured cell' and ('bearer_of' some 'osteosarcoma') http://www.orpha.net/ORDO/Orphanet_98576 Malposition of external canthus 'Malposition of external canthus' SubClassOf 'Canthal anomaly' 'Malposition of external canthus' SubClassOf 'Canthal anomaly' http://www.orpha.net/ORDO/Orphanet_98579 Congenital upper palpebral retraction 'Congenital upper palpebral retraction' SubClassOf 'Kinetic eyelid anomaly' 'Congenital upper palpebral retraction' SubClassOf 'Kinetic eyelid anomaly' http://purl.obolibrary.org/obo/UBERON_0004288 skeleton 'skeleton' SubClassOf 'part_of' some 'skeletal system' http://www.orpha.net/ORDO/Orphanet_247198 Progressive cerebello-cerebral atrophy 'Progressive cerebello-cerebral atrophy' SubClassOf 'Genetic syndrome with a central nervous system malformation as major feature' 'Progressive cerebello-cerebral atrophy' SubClassOf 'Rare genetic neurological disorder' 'Progressive cerebello-cerebral atrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017120 http://www.orpha.net/ORDO/Orphanet_98571 Secondary ectropion 'Secondary ectropion' SubClassOf 'Eyelids malposition disorder' 'Secondary ectropion' SubClassOf 'Eyelids malposition disorder' http://www.orpha.net/ORDO/Orphanet_261483 Xq27.3q28 duplication syndrome 'Xq27.3q28 duplication syndrome' SubClassOf 'Partial duplication of the long arm of chromosome X' 'Xq27.3q28 duplication syndrome' SubClassOf 'Partial duplication of the long arm of chromosome X' 'Xq27.3q28 duplication syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000762 http://www.orpha.net/ORDO/Orphanet_98570 Congenital ectropion 'Congenital ectropion' SubClassOf 'Eyelids malposition disorder' 'Congenital ectropion' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002043 'Congenital ectropion' SubClassOf 'Eyelids malposition disorder' http://www.orpha.net/ORDO/Orphanet_308712 Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form 'Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form' SubClassOf 'Glycogen storage disease due to glycogen branching enzyme deficiency' 'Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form' SubClassOf 'Glycogen storage disease due to glycogen branching enzyme deficiency' http://www.orpha.net/ORDO/Orphanet_97240 Zebra body myopathy 'Zebra body myopathy' SubClassOf 'Congenital myopathy' 'Zebra body myopathy' SubClassOf 'Congenital myopathy' http://www.orpha.net/ORDO/Orphanet_262716 Partial duplication of the short arm of chromosome 4 'Partial duplication of the short arm of chromosome 4' SubClassOf 'Partial duplication of chromosome 4' 'Partial duplication of the short arm of chromosome 4' SubClassOf 'Partial duplication of chromosome 4' http://www.orpha.net/ORDO/Orphanet_319494 Familial nonmedullary thyroid carcinoma 'Familial nonmedullary thyroid carcinoma' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Familial nonmedullary thyroid carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015075 http://www.orpha.net/ORDO/Orphanet_262707 Partial duplication of the short arm of chromosome 3 'Partial duplication of the short arm of chromosome 3' SubClassOf 'Partial duplication of chromosome 3' 'Partial duplication of the short arm of chromosome 3' SubClassOf 'Partial duplication of chromosome 3' http://purl.obolibrary.org/obo/CLO_0013834 GM17205 'GM17205' SubClassOf 'cultured cell' 'GM17205' SubClassOf 'has_quality' some 'male' 'GM17205' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/CLO_0013833 GM17206 'GM17206' SubClassOf 'cultured cell' 'GM17206' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17206' SubClassOf 'has_quality' some 'female' http://purl.obolibrary.org/obo/CLO_0013826 GM17199 'GM17199' SubClassOf 'has_quality' some 'female' 'GM17199' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17199' SubClassOf 'cultured cell' http://purl.obolibrary.org/obo/CLO_0013840 GM17200 'GM17200' SubClassOf 'has_quality' some 'male' 'GM17200' SubClassOf 'cultured cell' 'GM17200' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://www.orpha.net/ORDO/Orphanet_319480 Acute myeloid leukemia with CEBPA somatic mutations 'Acute myeloid leukemia with CEBPA somatic mutations' SubClassOf 'Genetic tumor of hematopoietic and lymphoid tissues' 'Acute myeloid leukemia with CEBPA somatic mutations' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020078 http://purl.obolibrary.org/obo/CLO_0013839 GM17201 'GM17201' SubClassOf 'has_quality' some 'male' 'GM17201' SubClassOf 'cultured cell' 'GM17201' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://www.orpha.net/ORDO/Orphanet_248408 Familial hypodysfibrinogenemia 'Familial hypodysfibrinogenemia' SubClassOf 'Congenital fibrinogen deficiency' 'Familial hypodysfibrinogenemia' SubClassOf 'Familial afibrinogenemia' http://purl.obolibrary.org/obo/CLO_0013837 GM17202 'GM17202' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17202' SubClassOf 'cultured cell' 'GM17202' SubClassOf 'has_quality' some 'female' http://purl.obolibrary.org/obo/CLO_0013836 GM17203 'GM17203' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17203' SubClassOf 'cultured cell' 'GM17203' SubClassOf 'has_quality' some 'male' http://www.orpha.net/ORDO/Orphanet_319487 Familial papillary or follicular thyroid carcinoma 'Familial papillary or follicular thyroid carcinoma' SubClassOf 'Familial nonmedullary thyroid carcinoma' 'Familial papillary or follicular thyroid carcinoma' SubClassOf 'Familial nonmedullary thyroid carcinoma' 'Familial papillary or follicular thyroid carcinoma' SubClassOf 'differentiated thyroid carcinoma' http://purl.obolibrary.org/obo/CLO_0013835 GM17204 'GM17204' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17204' SubClassOf 'cultured cell' 'GM17204' SubClassOf 'has_quality' some 'female' http://www.orpha.net/ORDO/Orphanet_248401 Rare thrombotic disorder due to a constitutional platelet anomaly 'Rare thrombotic disorder due to a constitutional platelet anomaly' SubClassOf 'Rare genetic coagulation disorder' 'Rare thrombotic disorder due to a constitutional platelet anomaly' SubClassOf 'Rare genetic coagulation disorder' 'Rare thrombotic disorder due to a constitutional platelet anomaly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016635 http://purl.obolibrary.org/obo/CLO_0013891 GM17210 'GM17210' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17210' SubClassOf 'cultured cell' 'GM17210' SubClassOf 'has_quality' some 'female' http://purl.obolibrary.org/obo/CLO_0013890 GM17211 'GM17211' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17211' SubClassOf 'cultured cell' 'GM17211' SubClassOf 'has_quality' some 'male' http://purl.obolibrary.org/obo/CLO_0011237 GM08928 'GM08928' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM08928' SubClassOf 'has_quality' some 'male' 'GM08928' SubClassOf 'cultured cell' http://purl.obolibrary.org/obo/CLO_0011235 GM08930 'GM08930' SubClassOf 'cultured cell' 'GM08930' SubClassOf 'has_quality' some 'male' 'GM08930' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://www.orpha.net/ORDO/Orphanet_262758 Partial duplication of the short arm of chromosome 8 'Partial duplication of the short arm of chromosome 8' SubClassOf 'Partial duplication of chromosome 8' 'Partial duplication of the short arm of chromosome 8' SubClassOf 'Partial duplication of chromosome 8' http://purl.obolibrary.org/obo/CLO_0011234 GM08931 'GM08931' SubClassOf 'has_quality' some 'female' 'GM08931' SubClassOf 'cultured cell' 'GM08931' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/CLO_0013895 GM17212 'GM17212' SubClassOf 'cultured cell' 'GM17212' SubClassOf 'has_quality' some 'male' 'GM17212' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://www.orpha.net/ORDO/Orphanet_404521 Spinal muscular atrophy with respiratory distress type 2 'Spinal muscular atrophy with respiratory distress type 2' SubClassOf 'X-linked distal hereditary motor neuropathy' 'Spinal muscular atrophy with respiratory distress type 2' SubClassOf 'X-linked distal hereditary motor neuropathy' http://purl.obolibrary.org/obo/CLO_0013893 GM17213 'GM17213' SubClassOf 'cultured cell' 'GM17213' SubClassOf 'has_quality' some 'female' 'GM17213' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://www.orpha.net/ORDO/Orphanet_97297 Bohring-Opitz syndrome 'Bohring-Opitz syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Bohring-Opitz syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Bohring-Opitz syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Bohring-Opitz syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 http://purl.obolibrary.org/obo/HP_0006101 Finger syndactyly 'Finger syndactyly' SubClassOf 'Syndactyly' 'Finger syndactyly' SubClassOf 'Syndactyly' http://www.orpha.net/ORDO/Orphanet_97290 Familial papillary thyroid carcinoma with renal papillary neoplasia 'Familial papillary thyroid carcinoma with renal papillary neoplasia' SubClassOf 'Familial nonmedullary thyroid carcinoma' 'Familial papillary thyroid carcinoma with renal papillary neoplasia' SubClassOf 'Inherited renal cancer-predisposing syndrome' 'Familial papillary thyroid carcinoma with renal papillary neoplasia' SubClassOf 'thyroid neoplasm' 'Familial papillary thyroid carcinoma with renal papillary neoplasia' SubClassOf 'Familial nonmedullary thyroid carcinoma' 'Familial papillary thyroid carcinoma with renal papillary neoplasia' SubClassOf 'Inherited renal cancer-predisposing syndrome' 'Familial papillary thyroid carcinoma with renal papillary neoplasia' SubClassOf 'has_disease_location' some 'thyroid gland' 'Familial papillary thyroid carcinoma with renal papillary neoplasia' SubClassOf 'renal carcinoma' 'Familial papillary thyroid carcinoma with renal papillary neoplasia' SubClassOf 'Genetic renal tumor' http://purl.obolibrary.org/obo/CHEBI_254496 7,12-dimethylbenz(a)anthracene '7,12-dimethylbenz(a)anthracene' SubClassOf 'has_role' some 'carcinogen role' http://www.orpha.net/ORDO/Orphanet_262749 Partial duplication of the short arm of chromosome 7 'Partial duplication of the short arm of chromosome 7' SubClassOf 'Partial duplication of chromosome 7' 'Partial duplication of the short arm of chromosome 7' SubClassOf 'Partial duplication of chromosome 7' http://www.orpha.net/ORDO/Orphanet_319465 Inherited acute myeloid leukemia 'Inherited acute myeloid leukemia' SubClassOf 'Genetic tumor of hematopoietic and lymphoid tissues' 'Inherited acute myeloid leukemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0011118 'Inherited acute myeloid leukemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 'Inherited acute myeloid leukemia' EquivalentTo 'acute myeloid leukemia' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) http://www.ebi.ac.uk/efo/EFO_0009601 testicular disease 'testicular disease' SubClassOf 'male reproductive system disease' 'testicular disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002259 'testicular disease' EquivalentTo 'disease' and ('has_disease_location' some ('testis' or ('part_of' some 'testis'))) 'testicular disease' SubClassOf 'male reproductive system disease' http://www.ebi.ac.uk/efo/EFO_0009606 macular degeneration 'macular degeneration' SubClassOf 'eye disease' 'macular degeneration' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004580 'macular degeneration' SubClassOf 'eye disease' 'macular degeneration' SubClassOf http://purl.obolibrary.org/obo/RO_0004022 some http://purl.obolibrary.org/obo/MONDO_0004580 http://www.ebi.ac.uk/efo/EFO_0009607 pituitary gland disease 'pituitary gland disease' SubClassOf 'brain disease' 'pituitary gland disease' SubClassOf 'central nervous system disease' 'pituitary gland disease' SubClassOf 'endocrine system disease' 'pituitary gland disease' SubClassOf 'brain disease' 'pituitary gland disease' SubClassOf 'has_disease_location' some ('pituitary gland' or ('part_of' some 'pituitary gland')) 'pituitary gland disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100070 'pituitary gland disease' SubClassOf 'endocrine system disease' http://www.ebi.ac.uk/efo/EFO_0009608 stomach disease 'stomach disease' SubClassOf 'digestive system disease' 'stomach disease' SubClassOf 'has_disease_location' some ('stomach' or ('part_of' some 'stomach')) 'stomach disease' SubClassOf 'digestive system disease' http://purl.obolibrary.org/obo/CLO_0013875 GM17209 'GM17209' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17209' SubClassOf 'cultured cell' 'GM17209' SubClassOf 'has_quality' some 'female' http://www.ebi.ac.uk/efo/EFO_0009609 myocarditis 'myocarditis' SubClassOf 'cardiomyopathy' 'myocarditis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024643 'myocarditis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024636 'myocarditis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000591 'myocarditis' SubClassOf 'cardiomyopathy' http://www.ebi.ac.uk/efo/EFO_0009602 prostate disease 'prostate disease' SubClassOf 'male reproductive system disease' 'prostate disease' SubClassOf 'male reproductive system disease' 'prostate disease' EquivalentTo 'disease' and ('has_disease_location' some ('prostate gland' or ('part_of' some 'prostate gland'))) http://www.ebi.ac.uk/efo/EFO_0009603 stroke outcome severity measurement 'stroke outcome severity measurement' SubClassOf 'measurement' 'stroke outcome severity measurement' SubClassOf 'is_about' some 'Ischemic stroke' 'stroke outcome severity measurement' SubClassOf 'measurement' http://www.ebi.ac.uk/efo/EFO_0009604 labyrinthitis 'labyrinthitis' SubClassOf 'auditory system disease' 'labyrinthitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021166 'labyrinthitis' SubClassOf 'inner ear disease' 'labyrinthitis' SubClassOf 'auditory system disease' http://www.ebi.ac.uk/efo/EFO_0009605 pancreas disease 'pancreas disease' SubClassOf 'digestive system disease' 'pancreas disease' SubClassOf 'endocrine system disease' 'pancreas disease' SubClassOf 'digestive system disease' 'pancreas disease' SubClassOf 'has_disease_location' some ('pancreas' or ('part_of' some 'pancreas')) 'pancreas disease' SubClassOf 'endocrine system disease' http://www.orpha.net/ORDO/Orphanet_262740 Partial duplication of the short arm of chromosome 6 'Partial duplication of the short arm of chromosome 6' SubClassOf 'Partial duplication of chromosome 6' 'Partial duplication of the short arm of chromosome 6' SubClassOf 'Partial duplication of chromosome 6' http://purl.obolibrary.org/obo/CLO_0013881 GM17207 'GM17207' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17207' SubClassOf 'cultured cell' 'GM17207' SubClassOf 'has_quality' some 'male' http://purl.obolibrary.org/obo/CLO_0013888 GM17216 'GM17216' SubClassOf 'has_quality' some 'female' 'GM17216' SubClassOf 'cultured cell' 'GM17216' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/CLO_0013887 GM17217 'GM17217' SubClassOf 'has_quality' some 'female' 'GM17217' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17217' SubClassOf 'cultured cell' http://purl.obolibrary.org/obo/CLO_0013886 GM17214 'GM17214' SubClassOf 'has_quality' some 'male' 'GM17214' SubClassOf 'cultured cell' 'GM17214' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://www.orpha.net/ORDO/Orphanet_262725 Partial trisomy/tetrasomy of the short arm of chromosome 5 'Partial trisomy/tetrasomy of the short arm of chromosome 5' SubClassOf 'Partial trisomy/tetrasomy of chromosome 5' 'Partial trisomy/tetrasomy of the short arm of chromosome 5' SubClassOf 'Partial trisomy/tetrasomy of chromosome 5' http://purl.obolibrary.org/obo/CLO_0013885 GM17215 'GM17215' SubClassOf 'has_quality' some 'female' 'GM17215' SubClassOf 'cultured cell' 'GM17215' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/CLO_0013884 GM17208 'GM17208' SubClassOf 'has_quality' some 'female' 'GM17208' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17208' SubClassOf 'cultured cell' http://purl.obolibrary.org/obo/CLO_0025850 GM00144 'GM00144' SubClassOf 'cultured cell' 'GM00144' SubClassOf 'has_quality' some 'female' 'GM00144' SubClassOf 'derives_from' some ('fibroblast' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0009500 HCEC 1CT 'HCEC 1CT' SubClassOf 'part_of' some 'Homo sapiens' http://www.ebi.ac.uk/efo/EFO_0009501 CWRU1 'CWRU1' SubClassOf 'has_quality' some 'male' 'CWRU1' SubClassOf 'part_of' some 'connective tissue' 'CWRU1' SubClassOf 'part_of' some 'Homo sapiens' http://purl.obolibrary.org/obo/PO_0007073 2 formation of axillary shoot stage '2 formation of axillary shoot stage' SubClassOf 'sporophyte vegetative stage' '2 formation of axillary shoot stage' SubClassOf 'sporophyte vegetative stage' http://purl.obolibrary.org/obo/PO_0007079 SE.00 stem elongation begins stage 'SE.00 stem elongation begins stage' SubClassOf 'stem elongation stage' 'SE.00 stem elongation begins stage' SubClassOf 'stem elongation stage' http://purl.obolibrary.org/obo/PO_0020040 leaf base 'leaf base' SubClassOf 'leaf' 'leaf base' SubClassOf 'leaf' http://purl.obolibrary.org/obo/PO_0007080 2.03 main shoot and axillary shoots visible at three nodes stage '2.03 main shoot and axillary shoots visible at three nodes stage' SubClassOf '2 formation of axillary shoot stage' '2.03 main shoot and axillary shoots visible at three nodes stage' SubClassOf '2 formation of axillary shoot stage' http://purl.obolibrary.org/obo/PO_0007089 stem elongation stage 'stem elongation stage' SubClassOf 'sporophyte vegetative stage' 'stem elongation stage' SubClassOf 'sporophyte vegetative stage' http://www.ebi.ac.uk/efo/EFO_0009529 anemia due to enzyme disorder 'anemia due to enzyme disorder' SubClassOf 'anemia' 'anemia due to enzyme disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002280 'anemia due to enzyme disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044976 'anemia due to enzyme disorder' SubClassOf 'anemia' http://www.orpha.net/ORDO/Orphanet_402003 Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering 'Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering' SubClassOf 'Isolated focal palmoplantar keratoderma' 'Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering' SubClassOf 'Non-epidermolytic palmoplantar keratoderma' 'Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering' SubClassOf 'Isolated focal palmoplantar keratoderma' http://www.ebi.ac.uk/efo/EFO_0009528 AIDS-related disease 'AIDS-related disease' SubClassOf 'HIV infection' 'AIDS-related disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024572 'AIDS-related disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004022 some 'HIV infection' 'AIDS-related disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017341 'AIDS-related disease' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0024572 and (http://purl.obolibrary.org/obo/RO_0004022 some 'HIV infection') 'AIDS-related disease' SubClassOf 'HIV infection' 'AIDS-related disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024878 http://www.orpha.net/ORDO/Orphanet_331193 Other immunodeficiency syndromes due to defects in innate immunity 'Other immunodeficiency syndromes due to defects in innate immunity' SubClassOf 'Primary immunodeficiency due to a defect in innate immunity' 'Other immunodeficiency syndromes due to defects in innate immunity' SubClassOf 'Primary immunodeficiency due to a defect in innate immunity' http://purl.obolibrary.org/obo/CHEBI_84098 O-linoleyl-L-carnitine 'O-linoleyl-L-carnitine' SubClassOf 'chemical entity' 'O-linoleyl-L-carnitine' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_200421 Immunodeficiency with factor H anomaly 'Immunodeficiency with factor H anomaly' SubClassOf 'Immunodeficiency due to a complement cascade protein anomaly' 'Immunodeficiency with factor H anomaly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0012350 'Immunodeficiency with factor H anomaly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018727 http://www.orpha.net/ORDO/Orphanet_225703 Mitochondrial disease with peripheral neuropathy 'Mitochondrial disease with peripheral neuropathy' SubClassOf 'Rare hereditary metabolic disease with peripheral neuropathy' 'Mitochondrial disease with peripheral neuropathy' SubClassOf 'Rare hereditary metabolic disease with peripheral neuropathy' 'Mitochondrial disease with peripheral neuropathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Mitochondrial disease with peripheral neuropathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004069 http://www.orpha.net/ORDO/Orphanet_331190 Immunodeficiency due to ficolin3 deficiency 'Immunodeficiency due to ficolin3 deficiency' SubClassOf 'Immunodeficiency due to a complement cascade protein anomaly' 'Immunodeficiency due to ficolin3 deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044209 http://www.ebi.ac.uk/efo/EFO_0009543 disturbances of sensation of smell and taste 'disturbances of sensation of smell and taste' SubClassOf 'sensory system disease' 'disturbances of sensation of smell and taste' SubClassOf 'sensory system disease' http://www.ebi.ac.uk/efo/EFO_0009544 esophageal disease 'esophageal disease' SubClassOf 'digestive system disease' 'esophageal disease' EquivalentTo 'disease' and ('has_disease_location' some ('esophagus' or ('part_of' some 'esophagus'))) 'esophageal disease' SubClassOf 'digestive system disease' 'esophageal disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000651 'esophageal disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044991 http://www.orpha.net/ORDO/Orphanet_331184 Constitutional neutropenia with extra-haematopoietic manifestations 'Constitutional neutropenia with extra-haematopoietic manifestations' SubClassOf 'Constitutional neutropenia' 'Constitutional neutropenia with extra-haematopoietic manifestations' SubClassOf 'Constitutional neutropenia' http://www.ebi.ac.uk/efo/EFO_0009545 esophageal varices 'esophageal varices' SubClassOf 'vascular disease' 'esophageal varices' SubClassOf 'digestive system disease' 'esophageal varices' SubClassOf 'esophageal disease' 'esophageal varices' SubClassOf http://purl.obolibrary.org/obo/MONDO_0008638 'esophageal varices' SubClassOf 'digestive system disease' 'esophageal varices' SubClassOf 'vascular disease' http://www.ebi.ac.uk/efo/EFO_0009546 eye adnexa disease 'eye adnexa disease' SubClassOf 'eye disease' 'eye adnexa disease' SubClassOf 'eye disease' 'eye adnexa disease' SubClassOf 'disease of orbital region' http://www.orpha.net/ORDO/Orphanet_331187 Immunodeficiency due to MASP-2 deficiency 'Immunodeficiency due to MASP-2 deficiency' SubClassOf 'Immunodeficiency due to a complement cascade protein anomaly' 'Immunodeficiency due to MASP-2 deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044209 http://www.ebi.ac.uk/efo/EFO_0009540 dental pulp disease 'dental pulp disease' SubClassOf 'tooth disease' 'dental pulp disease' SubClassOf 'tooth disease' 'dental pulp disease' SubClassOf 'connective tissue disease' http://www.ebi.ac.uk/efo/EFO_0009541 disease of peritoneum 'disease of peritoneum' SubClassOf 'digestive system disease' 'disease of peritoneum' SubClassOf 'digestive system disease' 'disease of peritoneum' EquivalentTo 'disease' and ('has_disease_location' some ('peritoneum' or ('part_of' some 'peritoneum'))) 'disease of peritoneum' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044965 http://www.ebi.ac.uk/efo/EFO_0009542 disorder of appendix 'disorder of appendix' SubClassOf 'intestinal disease' 'disorder of appendix' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002031 'disorder of appendix' SubClassOf 'intestinal disease' http://purl.obolibrary.org/obo/UBERON_2000240 metapterygoid 'metapterygoid' SubClassOf http://purl.obolibrary.org/obo/UBERON_0002513 'metapterygoid' SubClassOf http://purl.obolibrary.org/obo/UBERON_0011597 http://www.ebi.ac.uk/efo/EFO_0009547 eyelid disease 'eyelid disease' SubClassOf 'eye disease' 'eyelid disease' SubClassOf 'eye disease' 'eyelid disease' SubClassOf 'eye adnexa disease' http://www.ebi.ac.uk/efo/EFO_0009548 fallopian tube disease 'fallopian tube disease' SubClassOf 'female reproductive system disease' 'fallopian tube disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044965 'fallopian tube disease' SubClassOf 'female reproductive system disease' http://www.ebi.ac.uk/efo/EFO_0009549 female reproductive system disease 'female reproductive system disease' SubClassOf 'reproductive system disease' 'female reproductive system disease' EquivalentTo 'disease' and ('has_disease_location' some ('female reproductive system' or ('part_of' some 'female reproductive system'))) 'female reproductive system disease' SubClassOf 'reproductive system disease' http://purl.obolibrary.org/obo/PO_0007038 whole plant fruit ripening complete stage 'whole plant fruit ripening complete stage' SubClassOf 'whole plant fruit ripening stage' 'whole plant fruit ripening complete stage' SubClassOf 'whole plant fruit ripening stage' http://purl.obolibrary.org/obo/PO_0007031 mid whole plant fruit ripening stage 'mid whole plant fruit ripening stage' SubClassOf 'whole plant fruit ripening stage' 'mid whole plant fruit ripening stage' SubClassOf 'whole plant fruit ripening stage' http://www.ebi.ac.uk/efo/EFO_0009532 autonomic nervous system disease 'autonomic nervous system disease' SubClassOf 'peripheral nervous system disease' 'autonomic nervous system disease' SubClassOf 'peripheral nervous system disease' http://www.ebi.ac.uk/efo/EFO_0009533 basal ganglia disease 'basal ganglia disease' SubClassOf 'central nervous system disease' 'basal ganglia disease' SubClassOf 'brain disease' 'basal ganglia disease' EquivalentTo 'disease' and ('has_disease_location' some ('basal ganglion' or ('part_of' some 'basal ganglion'))) 'basal ganglia disease' SubClassOf 'brain disease' http://www.ebi.ac.uk/efo/EFO_0009534 biliary tract disease 'biliary tract disease' SubClassOf 'digestive system disease' 'biliary tract disease' SubClassOf 'digestive system disease' 'biliary tract disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002515 'biliary tract disease' EquivalentTo 'disease' and ('has_disease_location' some ('biliary system' or ('part_of' some 'biliary system'))) http://www.ebi.ac.uk/efo/EFO_0008204 left ventricular diastolic function measurement 'left ventricular diastolic function measurement' SubClassOf 'is_about' some 'cardiac ventricle' http://www.ebi.ac.uk/efo/EFO_0009535 binocular vision disease 'binocular vision disease' SubClassOf 'ocular motility disease' 'binocular vision disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021084 'binocular vision disease' SubClassOf 'ocular motility disease' http://www.orpha.net/ORDO/Orphanet_331176 Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency 'Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency' SubClassOf 'Severe congenital neutropenia' 'Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0028226 http://www.ebi.ac.uk/efo/EFO_0009530 anuria 'anuria' SubClassOf 'kidney disease' 'anuria' SubClassOf 'kidney disease' http://www.ebi.ac.uk/efo/EFO_0009531 aortic valve disease 'aortic valve disease' SubClassOf 'heart valve disease' 'aortic valve disease' SubClassOf 'heart valve disease' 'aortic valve disease' SubClassOf 'aortic disease' 'aortic valve disease' EquivalentTo 'disease' and ('has_disease_location' some ('aortic valve' or ('part_of' some 'aortic valve'))) 'aortic valve disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0045001 http://www.ebi.ac.uk/efo/EFO_0009536 blepharitis 'blepharitis' SubClassOf 'eyelid disease' 'blepharitis' SubClassOf 'eyelid disease' 'blepharitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021166 http://www.ebi.ac.uk/efo/EFO_0008205 left ventricular structural measurement 'left ventricular structural measurement' SubClassOf 'is_about' some 'cardiac ventricle' http://www.ebi.ac.uk/efo/EFO_0008206 left ventricular systolic function measurement 'left ventricular systolic function measurement' SubClassOf 'is_about' some 'cardiac ventricle' http://www.ebi.ac.uk/efo/EFO_0009537 cervical disc degenerative disorder 'cervical disc degenerative disorder' SubClassOf 'vertebral joint disease' 'cervical disc degenerative disorder' SubClassOf 'head and neck disorder' 'cervical disc degenerative disorder' SubClassOf 'vertebral joint disease' 'cervical disc degenerative disorder' SubClassOf 'lumbar disc degeneration' 'cervical disc degenerative disorder' SubClassOf 'head and neck disorder' http://www.ebi.ac.uk/efo/EFO_0009538 chronic inflammatory demyelinating polyneuropathy 'chronic inflammatory demyelinating polyneuropathy' SubClassOf 'immune system disease' 'chronic inflammatory demyelinating polyneuropathy' SubClassOf 'polyradiculoneuropathy' 'chronic inflammatory demyelinating polyneuropathy' SubClassOf 'has modifier' some 'chronic' 'chronic inflammatory demyelinating polyneuropathy' SubClassOf 'immune system disease' 'chronic inflammatory demyelinating polyneuropathy' SubClassOf 'polyradiculoneuropathy' 'chronic inflammatory demyelinating polyneuropathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016170 http://www.ebi.ac.uk/efo/EFO_0009539 congenital mitral malformation 'congenital mitral malformation' SubClassOf 'congenital heart malformation' 'congenital mitral malformation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020288 'congenital mitral malformation' SubClassOf 'congenital heart malformation' http://www.ebi.ac.uk/efo/EFO_0009565 radiation-induced disorder 'radiation-induced disorder' SubClassOf 'disease' 'radiation-induced disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0045028 'radiation-induced disorder' SubClassOf 'disease' http://www.ebi.ac.uk/efo/EFO_0009566 renal tubule disease 'renal tubule disease' SubClassOf 'kidney disease' 'renal tubule disease' SubClassOf 'kidney disease' http://www.ebi.ac.uk/efo/EFO_0009567 Spirochaetales Infections 'Spirochaetales Infections' SubClassOf 'bacterial disease' 'Spirochaetales Infections' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Spirochaetales Infections' SubClassOf 'bacterial disease' http://www.ebi.ac.uk/efo/EFO_0009568 tricuspid valve disease 'tricuspid valve disease' SubClassOf 'heart valve disease' 'tricuspid valve disease' SubClassOf 'heart valve disease' http://www.ebi.ac.uk/efo/EFO_0009561 parasitic intestinal disease 'parasitic intestinal disease' SubClassOf 'parasitic infection' 'parasitic intestinal disease' SubClassOf 'parasitic infection' 'parasitic intestinal disease' SubClassOf 'intestinal disease' 'parasitic intestinal disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043424 http://www.ebi.ac.uk/efo/EFO_0009562 polyneuropathy 'polyneuropathy' SubClassOf 'peripheral neuropathy' 'polyneuropathy' SubClassOf 'peripheral neuropathy' http://www.ebi.ac.uk/efo/EFO_0009563 protein energy malnutrition 'protein energy malnutrition' SubClassOf 'nutritional deficiency disease' 'protein energy malnutrition' SubClassOf 'nutritional deficiency disease' http://www.ebi.ac.uk/efo/EFO_0009564 pulmonary valve disease 'pulmonary valve disease' SubClassOf 'heart valve disease' 'pulmonary valve disease' SubClassOf 'heart valve disease' http://www.ebi.ac.uk/efo/EFO_0009569 trigeminal nerve disease 'trigeminal nerve disease' SubClassOf 'peripheral nervous system disease' 'trigeminal nerve disease' SubClassOf 'peripheral nervous system disease' 'trigeminal nerve disease' EquivalentTo 'disease' and ('has_disease_location' some ('trigeminal nerve' or ('part_of' some 'trigeminal nerve'))) 'trigeminal nerve disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003569 http://www.orpha.net/ORDO/Orphanet_26793 Very long chain acyl-CoA dehydrogenase deficiency 'Very long chain acyl-CoA dehydrogenase deficiency' SubClassOf 'Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy' 'Very long chain acyl-CoA dehydrogenase deficiency' SubClassOf 'Long chain acyl-CoA dehydrogenase deficiency' http://www.orpha.net/ORDO/Orphanet_402041 Autosomal recessive distal renal tubular acidosis 'Autosomal recessive distal renal tubular acidosis' SubClassOf 'Syndromic genetic deafness' 'Autosomal recessive distal renal tubular acidosis' SubClassOf 'Distal renal tubular acidosis' 'Autosomal recessive distal renal tubular acidosis' SubClassOf 'Syndromic genetic deafness' 'Autosomal recessive distal renal tubular acidosis' SubClassOf 'Distal renal tubular acidosis' 'Autosomal recessive distal renal tubular acidosis' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/CHEBI_23098 chiro-inositol 'chiro-inositol' SubClassOf 'chemical entity' 'chiro-inositol' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_26792 Short chain acyl-CoA dehydrogenase deficiency 'Short chain acyl-CoA dehydrogenase deficiency' SubClassOf 'Muscular lipidosis' 'Short chain acyl-CoA dehydrogenase deficiency' SubClassOf 'Acyl-CoA dehydrogenase deficiency' 'Short chain acyl-CoA dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044976 'Short chain acyl-CoA dehydrogenase deficiency' SubClassOf 'Muscular lipidosis' 'Short chain acyl-CoA dehydrogenase deficiency' SubClassOf 'Acyl-CoA dehydrogenase deficiency' http://purl.obolibrary.org/obo/PO_0020038 petiole 'petiole' SubClassOf 'part_of' some 'vascular leaf' http://www.orpha.net/ORDO/Orphanet_26791 Multiple acyl-CoA dehydrogenase deficiency 'Multiple acyl-CoA dehydrogenase deficiency' SubClassOf 'Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy' 'Multiple acyl-CoA dehydrogenase deficiency' SubClassOf 'Muscular lipidosis' 'Multiple acyl-CoA dehydrogenase deficiency' SubClassOf 'Acyl-CoA dehydrogenase deficiency' 'Multiple acyl-CoA dehydrogenase deficiency' SubClassOf 'Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy' 'Multiple acyl-CoA dehydrogenase deficiency' SubClassOf 'Muscular lipidosis' 'Multiple acyl-CoA dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000129 'Multiple acyl-CoA dehydrogenase deficiency' SubClassOf 'Acyl-CoA dehydrogenase deficiency' http://www.ebi.ac.uk/efo/EFO_0009570 tympanic membrane disease 'tympanic membrane disease' SubClassOf 'auditory system disease' 'tympanic membrane disease' SubClassOf 'auditory system disease' 'tympanic membrane disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003276 http://www.ebi.ac.uk/efo/EFO_0009571 urinary tract obstruction 'urinary tract obstruction' SubClassOf 'disease' 'urinary tract obstruction' SubClassOf 'disease' 'urinary tract obstruction' SubClassOf 'urinary system disease' http://purl.obolibrary.org/obo/PO_0020031 radicle 'radicle' SubClassOf 'root' 'radicle' SubClassOf 'root' http://purl.obolibrary.org/obo/PO_0020030 cotyledon 'cotyledon' SubClassOf 'vascular leaf' 'cotyledon' SubClassOf 'vascular leaf' http://www.ebi.ac.uk/efo/EFO_0009554 malabsorption syndrome 'malabsorption syndrome' SubClassOf 'intestinal disease' 'malabsorption syndrome' SubClassOf 'intestinal disease' http://www.ebi.ac.uk/efo/EFO_0009555 male reproductive system disease 'male reproductive system disease' SubClassOf 'reproductive system disease' 'male reproductive system disease' EquivalentTo 'disease' and ('has_disease_location' some ('male reproductive system' or ('part_of' some 'male reproductive system'))) 'male reproductive system disease' SubClassOf 'reproductive system disease' http://www.ebi.ac.uk/efo/EFO_0009556 mineral metabolism disease 'mineral metabolism disease' SubClassOf 'metabolic disease' 'mineral metabolism disease' SubClassOf 'metabolic disease' 'mineral metabolism disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024297 http://www.ebi.ac.uk/efo/EFO_0009557 mitral valve disease 'mitral valve disease' SubClassOf 'heart valve disease' 'mitral valve disease' EquivalentTo 'disease' and ('has_disease_location' some ('mitral valve' or ('part_of' some 'mitral valve'))) 'mitral valve disease' SubClassOf 'heart valve disease' http://www.ebi.ac.uk/efo/EFO_0009550 headache disorder 'headache disorder' SubClassOf 'central nervous system disease' 'headache disorder' SubClassOf 'central nervous system disease' http://www.ebi.ac.uk/efo/EFO_0009551 heart valve disease 'heart valve disease' SubClassOf 'heart disease' 'heart valve disease' SubClassOf 'heart disease' http://www.ebi.ac.uk/efo/EFO_0009552 hemorrhoid 'hemorrhoid' SubClassOf 'vascular disease' 'hemorrhoid' SubClassOf 'vascular disease' 'hemorrhoid' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004869 http://www.ebi.ac.uk/efo/EFO_0009553 HIV-associated cancer 'HIV-associated cancer' SubClassOf 'AIDS-related disease' 'HIV-associated cancer' SubClassOf 'cancer' 'HIV-associated cancer' SubClassOf 'immune system disease' 'HIV-associated cancer' SubClassOf 'cancer' 'HIV-associated cancer' SubClassOf 'AIDS-related disease' 'HIV-associated cancer' EquivalentTo 'AIDS-related disease' and ('disease has feature' some 'cancer') 'HIV-associated cancer' SubClassOf 'immune system disease' 'HIV-associated cancer' SubClassOf 'disease has feature' some 'cancer' 'HIV-associated cancer' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017341 http://www.ebi.ac.uk/efo/EFO_0009558 mononeuropathy 'mononeuropathy' SubClassOf 'peripheral neuropathy' 'mononeuropathy' SubClassOf 'peripheral neuropathy' http://www.ebi.ac.uk/efo/EFO_0009559 nerve plexus disease 'nerve plexus disease' SubClassOf 'peripheral neuropathy' 'nerve plexus disease' SubClassOf 'peripheral neuropathy' http://www.ebi.ac.uk/efo/EFO_0009560 otitis externa 'otitis externa' SubClassOf 'auditory system disease' 'otitis externa' SubClassOf 'external ear disease' 'otitis externa' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021669 'otitis externa' SubClassOf 'auditory system disease' 'otitis externa' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021666 http://purl.obolibrary.org/obo/PO_0020020 nucellus 'nucellus' SubClassOf 'plant ovule' 'nucellus' SubClassOf 'plant ovule' http://www.ebi.ac.uk/efo/EFO_0009587 anhedonia measurement 'anhedonia measurement' SubClassOf 'emotional symptom measurement' 'anhedonia measurement' SubClassOf 'emotional symptom measurement' http://www.ebi.ac.uk/efo/EFO_0009588 feeling "fed-up" measurement 'feeling "fed-up" measurement' SubClassOf 'emotional symptom measurement' 'feeling "fed-up" measurement' SubClassOf 'emotional symptom measurement' http://www.ebi.ac.uk/efo/EFO_0009589 worry measurement 'worry measurement' SubClassOf 'emotional symptom measurement' 'worry measurement' SubClassOf 'emotional symptom measurement' http://www.ebi.ac.uk/efo/EFO_0009583 place of residence measurement 'place of residence measurement' SubClassOf 'measurement' 'place of residence measurement' SubClassOf 'measurement' http://www.ebi.ac.uk/efo/EFO_0009584 AQP4-IgG-positive neuromyelitis optica 'AQP4-IgG-positive neuromyelitis optica' SubClassOf 'neuromyelitis optica' 'AQP4-IgG-positive neuromyelitis optica' SubClassOf 'has_disease_location' some ('central nervous system' or ('part_of' some 'central nervous system')) 'AQP4-IgG-positive neuromyelitis optica' SubClassOf 'neuromyelitis optica' http://www.ebi.ac.uk/efo/EFO_0009585 AQP4-IgG-negative neuromyelitis optica 'AQP4-IgG-negative neuromyelitis optica' SubClassOf 'neuromyelitis optica' 'AQP4-IgG-negative neuromyelitis optica' SubClassOf 'has_disease_location' some ('central nervous system' or ('part_of' some 'central nervous system')) 'AQP4-IgG-negative neuromyelitis optica' SubClassOf 'neuromyelitis optica' http://www.ebi.ac.uk/efo/EFO_0009586 skin hydration measurement 'skin hydration measurement' SubClassOf 'skin barrier function measurement' 'skin hydration measurement' SubClassOf 'skin barrier function measurement' http://purl.obolibrary.org/obo/UBERON_2000284 subopercle 'subopercle' SubClassOf http://purl.obolibrary.org/obo/UBERON_0008907 http://www.orpha.net/ORDO/Orphanet_99706 Progeria-associated arthropathy 'Progeria-associated arthropathy' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'Progeria-associated arthropathy' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Progeria-associated arthropathy' SubClassOf 'rheumatic disease' 'Progeria-associated arthropathy' SubClassOf 'disease has feature' some 'Hutchinson-Gilford progeria syndrome' 'Progeria-associated arthropathy' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'Progeria-associated arthropathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 http://www.ebi.ac.uk/efo/EFO_0009590 visual memory measurement 'visual memory measurement' SubClassOf 'emotional symptom measurement' 'visual memory measurement' SubClassOf 'emotional symptom measurement' http://www.ebi.ac.uk/efo/EFO_0009591 verbal memory measurement 'verbal memory measurement' SubClassOf 'emotional symptom measurement' 'verbal memory measurement' SubClassOf 'emotional symptom measurement' http://www.ebi.ac.uk/efo/EFO_0009592 social interaction measurement 'social interaction measurement' SubClassOf 'emotional symptom measurement' 'social interaction measurement' SubClassOf 'emotional symptom measurement' http://www.ebi.ac.uk/efo/EFO_0009593 mood change measurement 'mood change measurement' SubClassOf 'emotional symptom measurement' 'mood change measurement' SubClassOf 'emotional symptom measurement' http://purl.obolibrary.org/obo/CHEBI_60008 glycolithocholate 'glycolithocholate' SubClassOf 'chemical entity' 'glycolithocholate' SubClassOf 'chemical entity' http://www.ebi.ac.uk/efo/EFO_0009572 uterine inflammatory disease 'uterine inflammatory disease' SubClassOf 'female reproductive system disease' 'uterine inflammatory disease' SubClassOf 'female reproductive system disease' 'uterine inflammatory disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002654 http://purl.obolibrary.org/obo/UBERON_0005439 definitive endoderm 'definitive endoderm' SubClassOf 'part_of' some 'endoderm' http://www.orpha.net/ORDO/Orphanet_99718 Leber plus disease 'Leber plus disease' SubClassOf 'Optic neuropathy' 'Leber plus disease' SubClassOf 'Mitochondrial disease with dilated cardiomyopathy' 'Leber plus disease' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' 'Leber plus disease' SubClassOf 'Mitochondrial disease with eye involvement' 'Leber plus disease' SubClassOf 'Mitochondrial disease with hypertrophic cardiomyopathy' 'Leber plus disease' SubClassOf 'Optic neuropathy' 'Leber plus disease' SubClassOf 'Mitochondrial disease with dilated cardiomyopathy' 'Leber plus disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Leber plus disease' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' 'Leber plus disease' SubClassOf 'Mitochondrial disease with eye involvement' 'Leber plus disease' SubClassOf 'Rare genetic neurological disorder' 'Leber plus disease' SubClassOf 'Mitochondrial disease with hypertrophic cardiomyopathy' http://purl.obolibrary.org/obo/UBERON_0006761 corneo-scleral junction 'corneo-scleral junction' SubClassOf 'eye' 'corneo-scleral junction' SubClassOf 'eye' http://purl.obolibrary.org/obo/CHEBI_50683 folic acid reductase inhibitor 'folic acid reductase inhibitor' SubClassOf 'inheres_in' some 'chemical entity' http://purl.obolibrary.org/obo/UBERON_0006763 epithelium of conjunctiva 'epithelium of conjunctiva' SubClassOf 'epithelium' 'epithelium of conjunctiva' SubClassOf http://purl.obolibrary.org/obo/UBERON_0010304 'epithelium of conjunctiva' SubClassOf 'part_of' some 'conjunctiva' 'epithelium of conjunctiva' SubClassOf 'epithelium' 'epithelium of conjunctiva' SubClassOf http://purl.obolibrary.org/obo/UBERON_0015808 http://purl.obolibrary.org/obo/UBERON_2000264 preopercle 'preopercle' SubClassOf http://purl.obolibrary.org/obo/UBERON_0008907 http://purl.obolibrary.org/obo/UBERON_0005440 ductus arteriosus 'ductus arteriosus' SubClassOf 'artery' 'ductus arteriosus' SubClassOf 'artery' 'ductus arteriosus' SubClassOf http://purl.obolibrary.org/obo/UBERON_0004573 'ductus arteriosus' SubClassOf 'part_of' some 'heart' 'ductus arteriosus' SubClassOf http://purl.obolibrary.org/obo/UBERON_0003498 'ductus arteriosus' SubClassOf 'develops_from' some 'pharyngeal arch artery' http://www.orpha.net/ORDO/Orphanet_99732 Sulfite oxidase deficiency due to molybdenum cofactor deficiency 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency' SubClassOf 'Disorder of other vitamins and cofactors metabolism and transport' 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency' SubClassOf 'Encephalopathy due to sulfite oxidase deficiency' 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency' SubClassOf 'participates_in' some (('cofactor transport' and ('has component' some 'abnormal')) or ('cofactor metabolic process' and ('has component' some 'abnormal'))) 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency' SubClassOf 'Disorder of other vitamins and cofactors metabolism and transport' 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004689 'Sulfite oxidase deficiency due to molybdenum cofactor deficiency' SubClassOf 'Encephalopathy due to sulfite oxidase deficiency' http://www.orpha.net/ORDO/Orphanet_99731 Isolated sulfite oxidase deficiency 'Isolated sulfite oxidase deficiency' SubClassOf 'Encephalopathy due to sulfite oxidase deficiency' 'Isolated sulfite oxidase deficiency' SubClassOf 'Encephalopathy due to sulfite oxidase deficiency' http://www.orpha.net/ORDO/Orphanet_402082 Progressive myoclonic epilepsy type 5 'Progressive myoclonic epilepsy type 5' SubClassOf 'Progressive myoclonic epilepsy' 'Progressive myoclonic epilepsy type 5' SubClassOf 'Progressive myoclonic epilepsy' http://www.orpha.net/ORDO/Orphanet_99734 Myotonia fluctuans 'Myotonia fluctuans' SubClassOf 'Potassium-aggravated myotonia' 'Myotonia fluctuans' SubClassOf 'Potassium-aggravated myotonia' http://purl.obolibrary.org/obo/UBERON_0004117 pharyngeal pouch 'pharyngeal pouch' SubClassOf http://purl.obolibrary.org/obo/UBERON_0003258 'pharyngeal pouch' SubClassOf 'part_of' some 'embryo' 'pharyngeal pouch' SubClassOf 'develops_from' some 'endoderm' 'pharyngeal pouch' SubClassOf 'develops_from' some 'digestive system' 'pharyngeal pouch' SubClassOf 'part_of' some 'embryonic structure' http://www.ebi.ac.uk/efo/EFO_0009598 feeling miserable measurement 'feeling miserable measurement' SubClassOf 'emotional symptom measurement' 'feeling miserable measurement' SubClassOf 'emotional symptom measurement' http://www.ebi.ac.uk/efo/EFO_0009599 feeling emotionally hurt measurement 'feeling emotionally hurt measurement' SubClassOf 'emotional symptom measurement' 'feeling emotionally hurt measurement' SubClassOf 'emotional symptom measurement' http://purl.obolibrary.org/obo/CHEBI_48358 polar aprotic solvent role 'polar aprotic solvent role' SubClassOf 'inheres_in' some 'chemical entity' http://www.ebi.ac.uk/efo/EFO_0009594 irritability measurement 'irritability measurement' SubClassOf 'emotional symptom measurement' 'irritability measurement' SubClassOf 'emotional symptom measurement' http://www.ebi.ac.uk/efo/EFO_0009595 guilt measurement 'guilt measurement' SubClassOf 'emotional symptom measurement' 'guilt measurement' SubClassOf 'emotional symptom measurement' http://www.ebi.ac.uk/efo/EFO_0009596 feeling tense measurement 'feeling tense measurement' SubClassOf 'emotional symptom measurement' 'feeling tense measurement' SubClassOf 'emotional symptom measurement' http://www.ebi.ac.uk/efo/EFO_0009597 feeling nervous measurement 'feeling nervous measurement' SubClassOf 'emotional symptom measurement' 'feeling nervous measurement' SubClassOf 'emotional symptom measurement' http://purl.obolibrary.org/obo/CHEBI_48354 polar solvent role 'polar solvent role' SubClassOf 'inheres_in' some 'chemical entity' http://www.orpha.net/ORDO/Orphanet_99736 Acetazolamide-responsive myotonia 'Acetazolamide-responsive myotonia' SubClassOf 'Potassium-aggravated myotonia' 'Acetazolamide-responsive myotonia' SubClassOf 'Potassium-aggravated myotonia' http://purl.obolibrary.org/obo/UBERON_2000250 opercle 'opercle' SubClassOf http://purl.obolibrary.org/obo/UBERON_0008907 http://www.orpha.net/ORDO/Orphanet_99739 Rare familial disorder with hypertrophic cardiomyopathy 'Rare familial disorder with hypertrophic cardiomyopathy' SubClassOf 'hypertrophic cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_98408 Constitutional megaloblastic anemia due to folate metabolism disorder 'Constitutional megaloblastic anemia due to folate metabolism disorder' SubClassOf 'Constitutional deficiency anemia' 'Constitutional megaloblastic anemia due to folate metabolism disorder' SubClassOf 'vitamin metabolic disorder' 'Constitutional megaloblastic anemia due to folate metabolism disorder' SubClassOf 'Constitutional deficiency anemia' 'Constitutional megaloblastic anemia due to folate metabolism disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001700 'Constitutional megaloblastic anemia due to folate metabolism disorder' SubClassOf 'Organic aciduria' http://www.orpha.net/ORDO/Orphanet_402075 Familial bicuspid aortic valve 'Familial bicuspid aortic valve' SubClassOf 'Rare disease with thoracic aortic aneurysm and aortic dissection' 'Familial bicuspid aortic valve' SubClassOf 'Genetic cardiac anomaly' 'Familial bicuspid aortic valve' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020286 'Familial bicuspid aortic valve' SubClassOf 'aortic valve disease' 'Familial bicuspid aortic valve' SubClassOf 'Rare disease with thoracic aortic aneurysm and aortic dissection' 'Familial bicuspid aortic valve' SubClassOf 'Genetic cardiac anomaly' http://www.orpha.net/ORDO/Orphanet_99741 King-Denborough syndrome 'King-Denborough syndrome' SubClassOf 'Congenital myopathy' 'King-Denborough syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'King-Denborough syndrome' SubClassOf 'Genetic malformation syndrome with short stature' 'King-Denborough syndrome' SubClassOf 'Congenital myopathy' 'King-Denborough syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'Noonan syndrome' 'King-Denborough syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018753 'King-Denborough syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'King-Denborough syndrome' SubClassOf 'Genetic malformation syndrome with short stature' 'King-Denborough syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007 http://www.orpha.net/ORDO/Orphanet_99742 Amish lethal microcephaly 'Amish lethal microcephaly' SubClassOf 'Syndrome with microcephaly as major feature' 'Amish lethal microcephaly' SubClassOf 'Syndrome with microcephaly as major feature' 'Amish lethal microcephaly' SubClassOf 'Developmental anomaly of metabolic origin' 'Amish lethal microcephaly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000152 http://purl.obolibrary.org/obo/UBERON_0004122 genitourinary system 'genitourinary system' SubClassOf 'develops_from' some 'trunk mesenchyme' 'genitourinary system' SubClassOf 'develops_from' some 'mesoderm' 'genitourinary system' EquivalentTo 'reproductive system' or 'renal system' http://purl.obolibrary.org/obo/CHEBI_50648 9-cis-retinoic acid '9-cis-retinoic acid' SubClassOf 'has_role' some 'antineoplastic agent' http://purl.obolibrary.org/obo/CHEBI_37671 (1-3)-beta-D-glucan '(1-3)-beta-D-glucan' SubClassOf 'has_role' some 'induces sterile inflammation' http://purl.obolibrary.org/obo/CHEBI_50646 bone density conservation agent 'bone density conservation agent' SubClassOf 'inheres_in' some 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_63959 celastrol 'celastrol' SubClassOf 'has_role' some 'antineoplastic agent' 'celastrol' SubClassOf 'has_role' some 'anti-inflammatory drug' http://purl.obolibrary.org/obo/CHEBI_49662 indomethacin 'indomethacin' SubClassOf 'has_role' some 'non-steroidal anti-inflammatory drug' http://purl.obolibrary.org/obo/CHEBI_49668 gefitinib 'gefitinib' SubClassOf ('has_role' some 'antineoplastic agent') or ('has_role' some 'protein kinase inhibitor') http://purl.obolibrary.org/obo/PO_0020099 microgametophyte vegetative cell 'microgametophyte vegetative cell' SubClassOf 'native plant cell' 'microgametophyte vegetative cell' SubClassOf 'native plant cell' http://purl.obolibrary.org/obo/CHEBI_63956 isoxaben 'isoxaben' SubClassOf 'has_role' some 'agrochemical role' http://purl.obolibrary.org/obo/CHEBI_63948 trimethyltin 'trimethyltin' SubClassOf 'has_role' some 'toxin' http://purl.obolibrary.org/obo/UBERON_4000163 anal fin 'anal fin' SubClassOf http://purl.obolibrary.org/obo/UBERON_4000162 http://purl.obolibrary.org/obo/UBERON_4000164 caudal fin 'caudal fin' SubClassOf 'fin' 'caudal fin' SubClassOf 'fin' 'caudal fin' SubClassOf http://purl.obolibrary.org/obo/UBERON_4000162 http://purl.obolibrary.org/obo/UBERON_0005409 gastrointestinal system 'gastrointestinal system' SubClassOf 'animal component' 'gastrointestinal system' SubClassOf 'anatomical system' 'gastrointestinal system' SubClassOf 'part_of' some 'digestive system' http://purl.obolibrary.org/obo/GO_1901558 response to metformin 'response to metformin' SubClassOf 'is_about' some 'metformin' http://purl.obolibrary.org/obo/UBERON_0005403 ventral striatum 'ventral striatum' SubClassOf 'part_of' some 'corpus striatum' http://purl.obolibrary.org/obo/CHEBI_63933 Aroclor 1254 'Aroclor 1254' SubClassOf 'has_role' some 'carcinogen role' http://purl.obolibrary.org/obo/CHEBI_63927 cinidon ethyl 'cinidon ethyl' SubClassOf 'has_role' some 'agrochemical role' http://www.orpha.net/ORDO/Orphanet_99701 Mesial temporal lobe epilepsy with hippocampal sclerosis 'Mesial temporal lobe epilepsy with hippocampal sclerosis' SubClassOf 'Familial partial epilepsy' 'Mesial temporal lobe epilepsy with hippocampal sclerosis' SubClassOf 'Familial partial epilepsy' http://purl.obolibrary.org/obo/CHEBI_63924 riddelliine 'riddelliine' SubClassOf 'has_role' some 'mutagen' 'riddelliine' SubClassOf 'has_role' some 'carcinogen role' http://purl.obolibrary.org/obo/CLO_0011394 GM09583 'GM09583' SubClassOf 'has_quality' some 'male' 'GM09583' SubClassOf 'cultured cell' 'GM09583' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://www.orpha.net/ORDO/Orphanet_85146 Scapuloperoneal amyotrophy 'Scapuloperoneal amyotrophy' SubClassOf 'Qualitative or quantitative defects of desmin' http://purl.obolibrary.org/obo/CLO_0011391 GM09585 'GM09585' SubClassOf 'cultured cell' 'GM09585' SubClassOf 'has_quality' some 'male' 'GM09585' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://www.orpha.net/ORDO/Orphanet_319535 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency' SubClassOf 'Mendelian susceptibility to mycobacterial diseases' 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020636 http://www.orpha.net/ORDO/Orphanet_319539 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency' SubClassOf 'Mendelian susceptibility to mycobacterial diseases' 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020637 http://www.orpha.net/ORDO/Orphanet_262682 Partial trisomy/tetrasomy of chromosome 18 'Partial trisomy/tetrasomy of chromosome 18' SubClassOf 'Partial autosomal trisomy/tetrasomy' 'Partial trisomy/tetrasomy of chromosome 18' SubClassOf 'Partial autosomal trisomy/tetrasomy' http://www.orpha.net/ORDO/Orphanet_99796 Subcortical band heterotopia 'Subcortical band heterotopia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Subcortical band heterotopia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015572 http://www.orpha.net/ORDO/Orphanet_98464 X-linked syndromic intellectual disability 'X-linked syndromic intellectual disability' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000425 'X-linked syndromic intellectual disability' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Syndromic neurometabolic disease with non-X-linked intellectual disability' DisjointWith 'X-linked syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_99797 Anodontia 'Anodontia' SubClassOf 'Rare odontal or periodontal disorder' 'Anodontia' SubClassOf 'tooth disease' 'Anodontia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018488 'Anodontia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003847 'Anodontia' SubClassOf 'Rare odontal or periodontal disorder' http://www.orpha.net/ORDO/Orphanet_262687 Partial duplication of chromosome 19 'Partial duplication of chromosome 19' SubClassOf 'Partial autosomal trisomy/tetrasomy' 'Partial duplication of chromosome 19' SubClassOf 'Partial autosomal trisomy/tetrasomy' http://www.orpha.net/ORDO/Orphanet_99792 Dentin dysplasia - sclerotic bones 'Dentin dysplasia - sclerotic bones' SubClassOf 'Rare genetic odontologic disease' 'Dentin dysplasia - sclerotic bones' SubClassOf 'Rare genetic odontologic disease' 'Dentin dysplasia - sclerotic bones' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020014 'Dentin dysplasia - sclerotic bones' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003847 http://purl.obolibrary.org/obo/BTO_0000551 lung cancer cell 'lung cancer cell' SubClassOf 'develops_from' some 'lung' http://www.orpha.net/ORDO/Orphanet_99791 Dentin dysplasia type II 'Dentin dysplasia type II' SubClassOf 'Dentin dysplasia' 'Dentin dysplasia type II' SubClassOf 'Dentin dysplasia' 'Dentin dysplasia type II' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003847 http://purl.obolibrary.org/obo/CHEBI_48416 olmesartan 'olmesartan' SubClassOf 'has_role' some 'drug role' http://purl.obolibrary.org/obo/UBERON_4000170 median fin skeleton 'median fin skeleton' SubClassOf 'part_of' some 'skeletal system' http://www.orpha.net/ORDO/Orphanet_261337 Distal 22q11.2 microduplication syndrome 'Distal 22q11.2 microduplication syndrome' SubClassOf 'Partial duplication of the long arm of chromosome 22' 'Distal 22q11.2 microduplication syndrome' SubClassOf 'Partial duplication of the long arm of chromosome 22' http://www.orpha.net/ORDO/Orphanet_85136 Cystic leukoencephalopathy without megalencephaly 'Cystic leukoencephalopathy without megalencephaly' SubClassOf 'Leukodystrophy' 'Cystic leukoencephalopathy without megalencephaly' SubClassOf 'Leukodystrophy' http://www.orpha.net/ORDO/Orphanet_298644 Disorder of thiamine metabolism and transport 'Disorder of thiamine metabolism and transport' SubClassOf 'Disorder of vitamin and non-protein cofactor absorption and transport ' 'Disorder of thiamine metabolism and transport' SubClassOf 'participates_in' some (('thiamine metabolic process' and ('has component' some 'abnormal')) and ('vitamin transport' and ('has component' some 'abnormal'))) 'Disorder of thiamine metabolism and transport' SubClassOf 'Disorder of vitamin and non-protein cofactor absorption and transport ' http://www.orpha.net/ORDO/Orphanet_319543 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency 'Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency' SubClassOf 'Mendelian susceptibility to mycobacterial diseases' 'Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020637 http://www.orpha.net/ORDO/Orphanet_319547 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency 'Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency' SubClassOf 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency' 'Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0013953 'Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency' SubClassOf 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency' 'Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency' SubClassOf 'autosomal recessive disease' http://www.orpha.net/ORDO/Orphanet_98473 Muscular dystrophy 'Muscular dystrophy' SubClassOf 'Genetic skeletal muscle disease' 'Muscular dystrophy' SubClassOf 'Genetic skeletal muscle disease' 'Muscular dystrophy' SubClassOf 'myopathy' http://www.orpha.net/ORDO/Orphanet_262672 Partial duplication of chromosome 16 'Partial duplication of chromosome 16' SubClassOf 'Partial autosomal trisomy/tetrasomy' 'Partial duplication of chromosome 16' SubClassOf 'Partial autosomal trisomy/tetrasomy' http://www.orpha.net/ORDO/Orphanet_262677 Partial duplication of chromosome 17 'Partial duplication of chromosome 17' SubClassOf 'Partial autosomal trisomy/tetrasomy' 'Partial duplication of chromosome 17' SubClassOf 'Partial autosomal trisomy/tetrasomy' http://www.orpha.net/ORDO/Orphanet_85128 Bothnia retinal dystrophy 'Bothnia retinal dystrophy' SubClassOf 'Retinal dystrophy' 'Bothnia retinal dystrophy' SubClassOf 'Retinal dystrophy' http://www.orpha.net/ORDO/Orphanet_261344 Trisomy 1q 'Trisomy 1q' SubClassOf 'Partial duplication of the long arm of chromosome 1' 'Trisomy 1q' SubClassOf 'Partial duplication of the long arm of chromosome 1' http://www.orpha.net/ORDO/Orphanet_319519 Combined oxidative phosphorylation defect type 14 'Combined oxidative phosphorylation defect type 14' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Combined oxidative phosphorylation defect type 14' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000732 'Combined oxidative phosphorylation defect type 14' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' http://purl.obolibrary.org/obo/CHEBI_75927 (R)-2-hydroxypalmitate '(R)-2-hydroxypalmitate' SubClassOf 'lipid' '(R)-2-hydroxypalmitate' SubClassOf 'lipid' http://purl.obolibrary.org/obo/CHEBI_75928 (S)-2-hydroxypalmitate '(S)-2-hydroxypalmitate' SubClassOf 'lipid' '(S)-2-hydroxypalmitate' SubClassOf 'lipid' http://www.orpha.net/ORDO/Orphanet_262658 Partial trisomy/tetrasomy of the short arm of chromosome 12 'Partial trisomy/tetrasomy of the short arm of chromosome 12' SubClassOf 'Partial autosomal trisomy/tetrasomy' 'Partial trisomy/tetrasomy of the short arm of chromosome 12' SubClassOf http://purl.obolibrary.org/obo/MONDO_0042968 http://www.orpha.net/ORDO/Orphanet_319514 Combined oxidative phosphorylation defect type 13 'Combined oxidative phosphorylation defect type 13' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Combined oxidative phosphorylation defect type 13' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Combined oxidative phosphorylation defect type 13' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000732 http://www.orpha.net/ORDO/Orphanet_98486 Metabolic myopathy 'Metabolic myopathy' SubClassOf 'Non-dystrophic myopathy' 'Metabolic myopathy' SubClassOf 'Non-dystrophic myopathy' http://www.orpha.net/ORDO/Orphanet_261330 Distal 22q11.2 microdeletion syndrome 'Distal 22q11.2 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 22' 'Distal 22q11.2 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000761 'Distal 22q11.2 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 22' http://www.orpha.net/ORDO/Orphanet_248361 Rare thrombotic disorder due to a constitutional coagulation factors defect 'Rare thrombotic disorder due to a constitutional coagulation factors defect' SubClassOf 'Rare genetic coagulation disorder' 'Rare thrombotic disorder due to a constitutional coagulation factors defect' SubClassOf 'Rare genetic coagulation disorder' 'Rare thrombotic disorder due to a constitutional coagulation factors defect' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016632 http://www.orpha.net/ORDO/Orphanet_261318 Trisomy 20p 'Trisomy 20p' SubClassOf 'Partial trisomy of chromosome 20' 'Trisomy 20p' SubClassOf 'Partial trisomy of chromosome 20' http://www.orpha.net/ORDO/Orphanet_85110 Familial encephalopathy with neuroserpin inclusion bodies 'Familial encephalopathy with neuroserpin inclusion bodies' SubClassOf 'Progressive myoclonic epilepsy' 'Familial encephalopathy with neuroserpin inclusion bodies' SubClassOf 'Progressive myoclonic epilepsy' http://www.orpha.net/ORDO/Orphanet_85112 Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma 'Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma' SubClassOf 'Syndrome with 46,XX disorder of sex development' 'Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma' SubClassOf 'Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature' 'Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma' SubClassOf 'Syndrome with disorder of sex development of gynecological interest' 'Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma' SubClassOf 'Syndrome with 46,XX disorder of sex development' 'Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma' SubClassOf 'Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature' 'Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma' SubClassOf 'Syndrome with disorder of sex development of gynecological interest' http://www.orpha.net/ORDO/Orphanet_319524 Combined oxidative phosphorylation defect type 15 'Combined oxidative phosphorylation defect type 15' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Combined oxidative phosphorylation defect type 15' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000732 'Combined oxidative phosphorylation defect type 15' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' http://www.orpha.net/ORDO/Orphanet_262648 Partial duplication of chromosome 10 'Partial duplication of chromosome 10' SubClassOf 'Partial autosomal trisomy/tetrasomy' 'Partial duplication of chromosome 10' SubClassOf 'Partial autosomal trisomy/tetrasomy' http://www.orpha.net/ORDO/Orphanet_98495 Genetic neuromuscular junction disease 'Genetic neuromuscular junction disease' SubClassOf 'neuromuscular disease' 'Genetic neuromuscular junction disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021017 'Genetic neuromuscular junction disease' SubClassOf 'Genetic peripheral neuropathy' http://www.orpha.net/ORDO/Orphanet_98497 Genetic peripheral neuropathy 'Genetic peripheral neuropathy' SubClassOf 'Rare genetic neurological disorder' 'Genetic peripheral neuropathy' SubClassOf 'Rare genetic neurological disorder' 'Genetic peripheral neuropathy' EquivalentTo 'peripheral neuropathy' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) 'Genetic peripheral neuropathy' SubClassOf 'peripheral neuropathy' http://www.orpha.net/ORDO/Orphanet_262653 Partial duplication of chromosome 11 'Partial duplication of chromosome 11' SubClassOf 'Partial autosomal trisomy/tetrasomy' 'Partial duplication of chromosome 11' SubClassOf 'Partial autosomal trisomy/tetrasomy' http://purl.obolibrary.org/obo/BTO_0001899 stationary phase culture 'stationary phase culture' SubClassOf 'participates_in' some 'experimental process' http://www.orpha.net/ORDO/Orphanet_261323 21q22.11q22.12 microdeletion syndrome '21q22.11q22.12 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 21' '21q22.11q22.12 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 21' http://www.orpha.net/ORDO/Orphanet_85186 Endosteal sclerosis - cerebellar hypoplasia 'Endosteal sclerosis - cerebellar hypoplasia' SubClassOf 'Primary bone dysplasia with increased bone density' 'Endosteal sclerosis - cerebellar hypoplasia' SubClassOf 'Genetic syndrome with a cerebellar malformation as major feature' 'Endosteal sclerosis - cerebellar hypoplasia' SubClassOf 'Primary bone dysplasia with increased bone density' 'Endosteal sclerosis - cerebellar hypoplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 'Endosteal sclerosis - cerebellar hypoplasia' SubClassOf 'Rare genetic neurological disorder' 'Endosteal sclerosis - cerebellar hypoplasia' SubClassOf 'Genetic syndrome with a cerebellar malformation as major feature' http://www.orpha.net/ORDO/Orphanet_85188 Metaphyseal dysplasia, Braun-Tinschert type 'Metaphyseal dysplasia, Braun-Tinschert type' SubClassOf 'Primary bone dysplasia with increased bone density' 'Metaphyseal dysplasia, Braun-Tinschert type' SubClassOf 'Primary bone dysplasia with increased bone density' http://www.orpha.net/ORDO/Orphanet_98415 Vitamin B12- and folate-independent constitutional megaloblastic anemia 'Vitamin B12- and folate-independent constitutional megaloblastic anemia' SubClassOf 'Constitutional deficiency anemia' 'Vitamin B12- and folate-independent constitutional megaloblastic anemia' SubClassOf 'Constitutional deficiency anemia' 'Vitamin B12- and folate-independent constitutional megaloblastic anemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001700 http://www.orpha.net/ORDO/Orphanet_99749 Kostmann syndrome 'Kostmann syndrome' SubClassOf 'Inherited cancer-predisposing syndrome' 'Kostmann syndrome' SubClassOf 'Severe congenital neutropenia' 'Kostmann syndrome' SubClassOf 'Inherited cancer-predisposing syndrome' 'Kostmann syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0028226 http://www.orpha.net/ORDO/Orphanet_85182 Diaphyseal medullary stenosis - bone malignancy 'Diaphyseal medullary stenosis - bone malignancy' SubClassOf 'Primary bone dysplasia with increased bone density' 'Diaphyseal medullary stenosis - bone malignancy' SubClassOf 'bone neoplasm' 'Diaphyseal medullary stenosis - bone malignancy' SubClassOf 'Primary bone dysplasia with increased bone density' http://www.orpha.net/ORDO/Orphanet_85184 Craniometadiaphyseal dysplasia, wormian bone type 'Craniometadiaphyseal dysplasia, wormian bone type' SubClassOf 'Primary bone dysplasia with increased bone density' 'Craniometadiaphyseal dysplasia, wormian bone type' SubClassOf 'Primary bone dysplasia with increased bone density' http://www.orpha.net/ORDO/Orphanet_99750 Atypical progressive supranuclear palsy 'Atypical progressive supranuclear palsy' SubClassOf 'Progressive supranuclear palsy' 'Atypical progressive supranuclear palsy' SubClassOf 'Progressive supranuclear palsy' http://www.orpha.net/ORDO/Orphanet_369840 Autosomal recessive limb-girdle muscular dystrophy type 2S 'Autosomal recessive limb-girdle muscular dystrophy type 2S' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' 'Autosomal recessive limb-girdle muscular dystrophy type 2S' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' 'Autosomal recessive limb-girdle muscular dystrophy type 2S' SubClassOf 'Intellectual disability-hyperkinetic movement-truncal ataxia syndrome' http://www.orpha.net/ORDO/Orphanet_369847 Intellectual disability-hyperkinetic movement-truncal ataxia syndrome 'Intellectual disability-hyperkinetic movement-truncal ataxia syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Intellectual disability-hyperkinetic movement-truncal ataxia syndrome' SubClassOf 'Rare genetic tremor disorder' 'Intellectual disability-hyperkinetic movement-truncal ataxia syndrome' SubClassOf 'movement disorder' 'Intellectual disability-hyperkinetic movement-truncal ataxia syndrome' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://www.orpha.net/ORDO/Orphanet_85175 Astley-Kendall dysplasia 'Astley-Kendall dysplasia' SubClassOf 'Chondrodysplasia punctata' 'Astley-Kendall dysplasia' SubClassOf 'Chondrodysplasia punctata' http://www.orpha.net/ORDO/Orphanet_85174 Pseudodiastrophic dysplasia 'Pseudodiastrophic dysplasia' SubClassOf 'Malformation syndrome with connective tissue involvement' 'Pseudodiastrophic dysplasia' SubClassOf 'Primary bone dysplasia with multiple joint dislocations' 'Pseudodiastrophic dysplasia' SubClassOf 'Malformation syndrome with connective tissue involvement' 'Pseudodiastrophic dysplasia' SubClassOf 'Primary bone dysplasia with multiple joint dislocations' http://www.orpha.net/ORDO/Orphanet_319509 Combined oxidative phosphorylation defect type 9 'Combined oxidative phosphorylation defect type 9' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Combined oxidative phosphorylation defect type 9' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000732 'Combined oxidative phosphorylation defect type 9' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' http://www.orpha.net/ORDO/Orphanet_85179 Infantile osteopetrosis with neuroaxonal dysplasia 'Infantile osteopetrosis with neuroaxonal dysplasia' SubClassOf 'Osteopetrosis' 'Infantile osteopetrosis with neuroaxonal dysplasia' SubClassOf 'Osteopetrosis' http://www.orpha.net/ORDO/Orphanet_98428 Secondary polycythemia 'Secondary polycythemia' SubClassOf 'has_disease_location' some ('hematopoietic system' or ('part_of' some 'hematopoietic system')) 'Secondary polycythemia' SubClassOf 'polycythemia' http://www.orpha.net/ORDO/Orphanet_319504 Combined oxidative phosphorylation defect type 8 'Combined oxidative phosphorylation defect type 8' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Combined oxidative phosphorylation defect type 8' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000732 'Combined oxidative phosphorylation defect type 8' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' http://www.orpha.net/ORDO/Orphanet_85170 Mesomelic dysplasia, Savarirayan type 'Mesomelic dysplasia, Savarirayan type' SubClassOf 'Mesomelic and rhizo-mesomelic dysplasia' 'Mesomelic dysplasia, Savarirayan type' SubClassOf 'Mesomelic and rhizo-mesomelic dysplasia' http://www.orpha.net/ORDO/Orphanet_85173 IMAGe syndrome 'IMAGe syndrome' SubClassOf 'Genetic chronic primary adrenal insufficiency' 'IMAGe syndrome' SubClassOf 'Slender bone dysplasia' 'IMAGe syndrome' SubClassOf 'Syndromic urogenital tract malformation' 'IMAGe syndrome' SubClassOf 'Genetic chronic primary adrenal insufficiency' 'IMAGe syndrome' SubClassOf 'Syndromic urogenital tract malformation' 'IMAGe syndrome' SubClassOf 'Slender bone dysplasia' http://www.orpha.net/ORDO/Orphanet_85172 Microcephalic osteodysplastic dysplasia, Saul-Wilson type 'Microcephalic osteodysplastic dysplasia, Saul-Wilson type' SubClassOf 'Microcephalic primordial dwarfism' 'Microcephalic osteodysplastic dysplasia, Saul-Wilson type' SubClassOf 'Microcephalic primordial dwarfism' http://purl.obolibrary.org/obo/UBERON_0004141 heart tube 'heart tube' SubClassOf 'develops_from' some 'mesoderm' 'heart tube' SubClassOf 'part_of' some 'embryo' 'heart tube' SubClassOf http://purl.obolibrary.org/obo/UBERON_0003914 'heart tube' SubClassOf 'immediate_transformation_of' some 'embryonic structure' 'heart tube' SubClassOf 'part_of' some 'embryonic structure' 'heart tube' SubClassOf http://purl.obolibrary.org/obo/UBERON_0012275 http://www.orpha.net/ORDO/Orphanet_99763 Familial hyperreninemic hypoaldosteronism type 1 'Familial hyperreninemic hypoaldosteronism type 1' SubClassOf 'Familial hypoaldosteronism' 'Familial hyperreninemic hypoaldosteronism type 1' SubClassOf 'Familial hypoaldosteronism' http://www.orpha.net/ORDO/Orphanet_98434 Hereditary combined deficiency of vitamin K-dependent clotting factors 'Hereditary combined deficiency of vitamin K-dependent clotting factors' SubClassOf 'Congenital vitamin K-dependent coagulation factors deficiency' 'Hereditary combined deficiency of vitamin K-dependent clotting factors' SubClassOf 'Disorder of other vitamins and cofactors metabolism and transport' 'Hereditary combined deficiency of vitamin K-dependent clotting factors' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000184 'Hereditary combined deficiency of vitamin K-dependent clotting factors' SubClassOf 'Disorder of other vitamins and cofactors metabolism and transport' 'Hereditary combined deficiency of vitamin K-dependent clotting factors' SubClassOf 'Rare genetic coagulation disorder' http://www.orpha.net/ORDO/Orphanet_99764 Familial hyperreninemic hypoaldosteronism type 2 'Familial hyperreninemic hypoaldosteronism type 2' SubClassOf 'Familial hypoaldosteronism' 'Familial hyperreninemic hypoaldosteronism type 2' SubClassOf 'Familial hypoaldosteronism' http://www.orpha.net/ORDO/Orphanet_369837 Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome 'Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome' SubClassOf 'Slender bone dysplasia' 'Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome' SubClassOf 'Rare syndromic dyslipidemia' 'Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome' SubClassOf 'Congenital disorder of glycosylation-related bone disorder' 'Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome' SubClassOf 'Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' 'Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome' SubClassOf 'Slender bone dysplasia' http://purl.obolibrary.org/obo/CHEBI_25705 organochlorine pesticides 'organochlorine pesticides' SubClassOf 'has_role' some 'agrochemical role' http://www.orpha.net/ORDO/Orphanet_85164 Camptodactyly - tall stature - scoliosis - hearing loss 'Camptodactyly - tall stature - scoliosis - hearing loss' SubClassOf 'FGFR3-related chondrodysplasia' 'Camptodactyly - tall stature - scoliosis - hearing loss' SubClassOf 'Dysostosis with predominant vertebral and costal involvement' 'Camptodactyly - tall stature - scoliosis - hearing loss' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000429 'Camptodactyly - tall stature - scoliosis - hearing loss' SubClassOf 'FGFR3-related chondrodysplasia' 'Camptodactyly - tall stature - scoliosis - hearing loss' SubClassOf 'Dysostosis with predominant vertebral and costal involvement' http://www.orpha.net/ORDO/Orphanet_85163 Hypomyelination - congenital cataract 'Hypomyelination - congenital cataract' SubClassOf 'Syndromic cataract' 'Hypomyelination - congenital cataract' SubClassOf 'Leukodystrophy' 'Hypomyelination - congenital cataract' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Hypomyelination - congenital cataract' SubClassOf 'Syndromic cataract' 'Hypomyelination - congenital cataract' SubClassOf 'Leukodystrophy' http://www.orpha.net/ORDO/Orphanet_85166 Platyspondylic dysplasia, Torrance type 'Platyspondylic dysplasia, Torrance type' SubClassOf 'Spondylodysplastic dysplasia' 'Platyspondylic dysplasia, Torrance type' SubClassOf 'Type 2 collagen-related bone disorder' 'Platyspondylic dysplasia, Torrance type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0022800 'Platyspondylic dysplasia, Torrance type' SubClassOf 'Spondylodysplastic dysplasia' 'Platyspondylic dysplasia, Torrance type' SubClassOf 'Type 2 collagen-related bone disorder' http://www.orpha.net/ORDO/Orphanet_85165 Severe achondroplasia - developmental delay - acanthosis nigricans 'Severe achondroplasia - developmental delay - acanthosis nigricans' SubClassOf 'Other genetic epidermal disease' 'Severe achondroplasia - developmental delay - acanthosis nigricans' SubClassOf 'Primary bone dysplasia with micromelia' 'Severe achondroplasia - developmental delay - acanthosis nigricans' SubClassOf 'FGFR3-related chondrodysplasia' 'Severe achondroplasia - developmental delay - acanthosis nigricans' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019274 'Severe achondroplasia - developmental delay - acanthosis nigricans' SubClassOf 'Other genetic epidermal disease' 'Severe achondroplasia - developmental delay - acanthosis nigricans' SubClassOf 'Primary bone dysplasia with micromelia' 'Severe achondroplasia - developmental delay - acanthosis nigricans' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 'Severe achondroplasia - developmental delay - acanthosis nigricans' SubClassOf 'FGFR3-related chondrodysplasia' 'Severe achondroplasia - developmental delay - acanthosis nigricans' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 'Severe achondroplasia - developmental delay - acanthosis nigricans' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 http://www.orpha.net/ORDO/Orphanet_85168 Craniofacial conodysplasia 'Craniofacial conodysplasia' SubClassOf 'Acromelic dysplasia' 'Craniofacial conodysplasia' SubClassOf 'Acromelic dysplasia' http://www.orpha.net/ORDO/Orphanet_85167 Spondylometaphyseal dysplasia - cone-rod dystrophy 'Spondylometaphyseal dysplasia - cone-rod dystrophy' SubClassOf 'Spondylometaphyseal dysplasia' 'Spondylometaphyseal dysplasia - cone-rod dystrophy' SubClassOf 'Spondylometaphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_85169 Familial digital arthropathy-brachydactyly 'Familial digital arthropathy-brachydactyly' SubClassOf 'Syndrome with brachydactyly' 'Familial digital arthropathy-brachydactyly' SubClassOf 'TRPV4-related bone disorder' 'Familial digital arthropathy-brachydactyly' SubClassOf 'Syndrome with brachydactyly' 'Familial digital arthropathy-brachydactyly' SubClassOf 'TRPV4-related bone disorder' http://purl.obolibrary.org/obo/GO_0030312 external encapsulating structure 'external encapsulating structure' SubClassOf 'part_of' some 'cell periphery' http://purl.obolibrary.org/obo/GO_0030313 cell envelope 'cell envelope' SubClassOf 'has part' some 'plasma membrane' http://www.orpha.net/ORDO/Orphanet_85162 Facial onset sensory and motor neuronopathy 'Facial onset sensory and motor neuronopathy' SubClassOf 'Genetic neurodegenerative disease' 'Facial onset sensory and motor neuronopathy' SubClassOf 'Genetic neurodegenerative disease' http://purl.obolibrary.org/obo/UBERON_0004152 bulbus arteriosus 'bulbus arteriosus' SubClassOf 'part_of' some 'heart' http://www.orpha.net/ORDO/Orphanet_369861 Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome 'Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome' SubClassOf 'Constitutional sideroblastic anemia' 'Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome' SubClassOf 'Other immunodeficiency syndrome with predominantly antibody defects' 'Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome' SubClassOf 'Constitutional sideroblastic anemia' 'Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome' SubClassOf 'Other immunodeficiency syndrome with predominantly antibody defects' http://www.orpha.net/ORDO/Orphanet_99776 Mosaic trisomy 9 'Mosaic trisomy 9' SubClassOf 'Total autosomal trisomy' 'Mosaic trisomy 9' SubClassOf 'Total autosomal trisomy' http://purl.obolibrary.org/obo/CHEBI_2766 aphidicolin 'aphidicolin' SubClassOf 'has_role' some 'antimicrobial agent' http://purl.obolibrary.org/obo/CHEBI_86612 dihydroferulic acid 'dihydroferulic acid' SubClassOf 'acid' 'dihydroferulic acid' SubClassOf 'acid' http://purl.obolibrary.org/obo/CHEBI_74640 N-acetyl-L-tryptophan 'N-acetyl-L-tryptophan' SubClassOf 'chemical entity' 'N-acetyl-L-tryptophan' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_369867 Autosomal recessive intermediate Charcot-Marie-Tooth disease type C 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type C' SubClassOf 'Autosomal recessive intermediate Charcot-Marie-Tooth disease' 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type C' SubClassOf 'Autosomal recessive intermediate Charcot-Marie-Tooth disease' http://www.orpha.net/ORDO/Orphanet_97120 Distal arthrogryposis 'Distal arthrogryposis' SubClassOf 'Arthrogryposis syndrome' 'Distal arthrogryposis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003939 'Distal arthrogryposis' SubClassOf 'Arthrogryposis syndrome' http://www.orpha.net/ORDO/Orphanet_262692 Partial trisomy of chromosome 20 'Partial trisomy of chromosome 20' SubClassOf 'Partial autosomal trisomy/tetrasomy' 'Partial trisomy of chromosome 20' SubClassOf 'Partial autosomal trisomy/tetrasomy' http://purl.obolibrary.org/obo/UBERON_0005493 hyoid muscle 'hyoid muscle' SubClassOf 'zebrafish component' 'hyoid muscle' SubClassOf 'branchial muscle' 'hyoid muscle' SubClassOf 'develops_from' some 'pharyngeal arch' 'hyoid muscle' SubClassOf 'part_of' some 'musculature of body' 'hyoid muscle' SubClassOf 'develops_from' some 'head mesenchyme from mesoderm' 'hyoid muscle' SubClassOf 'part_of' some 'neck' http://www.orpha.net/ORDO/Orphanet_98456 Dense granule disease 'Dense granule disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018795 http://www.orpha.net/ORDO/Orphanet_98455 Alpha granule disease 'Alpha granule disease' SubClassOf 'Inherited giant platelet disorder' http://www.orpha.net/ORDO/Orphanet_262698 Partial duplication of the short arm of chromosome 2 'Partial duplication of the short arm of chromosome 2' SubClassOf 'Partial duplication of chromosome 2' 'Partial duplication of the short arm of chromosome 2' SubClassOf 'Partial duplication of chromosome 2' http://www.orpha.net/ORDO/Orphanet_369852 Recurrent infections-myelofibrosis-nephromegaly syndrome 'Recurrent infections-myelofibrosis-nephromegaly syndrome' SubClassOf 'Constitutional neutropenia with extra-haematopoietic manifestations' 'Recurrent infections-myelofibrosis-nephromegaly syndrome' SubClassOf 'Constitutional neutropenia with extra-haematopoietic manifestations' 'Recurrent infections-myelofibrosis-nephromegaly syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0028226 http://www.orpha.net/ORDO/Orphanet_99789 Dentin dysplasia type I 'Dentin dysplasia type I' SubClassOf 'Dentin dysplasia' 'Dentin dysplasia type I' SubClassOf 'Dentin dysplasia' 'Dentin dysplasia type I' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003847 http://purl.obolibrary.org/obo/UBERON_0004167 orbitofrontal cortex 'orbitofrontal cortex' SubClassOf 'part_of' some 'frontal cortex' http://purl.obolibrary.org/obo/UBERON_0005497 non-neural ectoderm 'non-neural ectoderm' SubClassOf 'develops_from' some 'ectoderm' http://purl.obolibrary.org/obo/CHEBI_25722 orotidine 'orotidine' SubClassOf 'chemical entity' 'orotidine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/PO_0007117 SE.02 two nodes or internodes visible stage 'SE.02 two nodes or internodes visible stage' SubClassOf 'stem elongation stage' 'SE.02 two nodes or internodes visible stage' SubClassOf 'stem elongation stage' http://www.ebi.ac.uk/efo/EFO_1002007 obsolete_juvenile idiopathic arthritis 'obsolete_juvenile idiopathic arthritis' SubClassOf 'obsolete class' 'obsolete_juvenile idiopathic arthritis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1002003 hypersensitivity reaction disease 'hypersensitivity reaction disease' SubClassOf 'immune system disease' 'hypersensitivity reaction disease' SubClassOf 'immune system disease' http://www.ebi.ac.uk/efo/EFO_1002000 Takotsubo cardiomyopathy 'Takotsubo cardiomyopathy' SubClassOf 'cardiomyopathy' 'Takotsubo cardiomyopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016343 http://www.ebi.ac.uk/efo/EFO_1002009 macular telangiectasia type 2 'macular telangiectasia type 2' SubClassOf 'has_disease_location' some 'retina' http://www.ebi.ac.uk/efo/EFO_1002008 atypical teratoid rhabdoid tumor 'atypical teratoid rhabdoid tumor' SubClassOf 'soft tissue sarcoma' 'atypical teratoid rhabdoid tumor' SubClassOf 'malignant rhabdoid tumour' 'atypical teratoid rhabdoid tumor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002217 'atypical teratoid rhabdoid tumor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016708 http://www.orpha.net/ORDO/Orphanet_211017 Spinocerebellar ataxia type 30 'Spinocerebellar ataxia type 30' SubClassOf 'Autosomal dominant cerebellar ataxia type 3' 'Spinocerebellar ataxia type 30' SubClassOf 'Autosomal dominant cerebellar ataxia type 3' http://www.ebi.ac.uk/efo/EFO_1002018 bronchial disease 'bronchial disease' SubClassOf 'respiratory system disease' 'bronchial disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000651 'bronchial disease' SubClassOf 'lower respiratory tract disease' 'bronchial disease' SubClassOf 'has_disease_location' some 'bronchus' http://purl.obolibrary.org/obo/CLO_0013987 GM17168 'GM17168' SubClassOf 'has_quality' some 'female' 'GM17168' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17168' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_1002017 differentiated thyroid carcinoma 'differentiated thyroid carcinoma' SubClassOf 'carcinoma' 'differentiated thyroid carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015075 http://purl.obolibrary.org/obo/CLO_0013984 GM17160 'GM17160' SubClassOf 'cultured cell' 'GM17160' SubClassOf 'has_quality' some 'female' 'GM17160' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_1002014 melancholia 'melancholia' SubClassOf 'mood disorder' 'melancholia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002050 http://purl.obolibrary.org/obo/CLO_0013983 GM17162 'GM17162' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17162' SubClassOf 'has_quality' some 'female' 'GM17162' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_1002013 alcoholic pancreatitis 'alcoholic pancreatitis' SubClassOf 'pancreatitis' 'alcoholic pancreatitis' SubClassOf 'has_disease_location' only 'pancreas' 'alcoholic pancreatitis' SubClassOf 'pancreatitis' 'alcoholic pancreatitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021699 http://purl.obolibrary.org/obo/CLO_0013982 GM17161 'GM17161' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17161' SubClassOf 'cultured cell' 'GM17161' SubClassOf 'has_quality' some 'female' http://www.ebi.ac.uk/efo/EFO_1002012 ligament rupture 'ligament rupture' SubClassOf 'has_disease_location' some 'ligament' http://purl.obolibrary.org/obo/CHEBI_74670 1-oleoyl-2-linoleoyl-sn-glycero-3-phosphocholine '1-oleoyl-2-linoleoyl-sn-glycero-3-phosphocholine' SubClassOf 'chemical entity' '1-oleoyl-2-linoleoyl-sn-glycero-3-phosphocholine' SubClassOf 'chemical entity' http://www.ebi.ac.uk/efo/EFO_1002019 oligoarticular juvenile idiopathic arthritis 'oligoarticular juvenile idiopathic arthritis' SubClassOf 'juvenile idiopathic arthritis' 'oligoarticular juvenile idiopathic arthritis' SubClassOf 'has_disease_location' some ('bone' or ('part_of' some 'bone')) 'oligoarticular juvenile idiopathic arthritis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017259 'oligoarticular juvenile idiopathic arthritis' SubClassOf 'has_disease_location' some 'dendritic cell-derived osteoclast' 'oligoarticular juvenile idiopathic arthritis' SubClassOf 'juvenile idiopathic arthritis' http://www.orpha.net/ORDO/Orphanet_248305 Hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency 'Hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency' SubClassOf 'Hemolytic anemia due to a disorder of glycolytic enzymes' 'Hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency' SubClassOf 'Hemolytic anemia due to a disorder of glycolytic enzymes' http://www.ebi.ac.uk/efo/EFO_1002021 ankle injury 'ankle injury' SubClassOf 'leg injury' 'ankle injury' SubClassOf 'has_disease_location' some 'bone' 'ankle injury' SubClassOf 'leg injury' http://www.ebi.ac.uk/efo/EFO_1002020 polyarticular juvenile idiopathic arthritis, rheumatoid factor negative 'polyarticular juvenile idiopathic arthritis, rheumatoid factor negative' SubClassOf 'polyarticular juvenile idiopathic arthritis' 'polyarticular juvenile idiopathic arthritis, rheumatoid factor negative' SubClassOf 'polyarticular juvenile idiopathic arthritis' 'polyarticular juvenile idiopathic arthritis, rheumatoid factor negative' SubClassOf 'has_disease_location' some 'dendritic cell-derived osteoclast' 'polyarticular juvenile idiopathic arthritis, rheumatoid factor negative' SubClassOf 'has_disease_location' some ('bone' or ('part_of' some 'bone')) 'polyarticular juvenile idiopathic arthritis, rheumatoid factor negative' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017259 http://www.orpha.net/ORDO/Orphanet_331240 Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells 'Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells' SubClassOf 'Immunodeficiency predominantly affecting antibody production' 'Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells' SubClassOf 'Immunodeficiency predominantly affecting antibody production' http://www.ebi.ac.uk/efo/EFO_1002029 chronic rhinosinusitis with nasal polyps 'chronic rhinosinusitis with nasal polyps' SubClassOf 'chronic rhinosinusitis' 'chronic rhinosinusitis with nasal polyps' SubClassOf 'has modifier' some 'chronic' 'chronic rhinosinusitis with nasal polyps' SubClassOf 'chronic rhinosinusitis' http://www.ebi.ac.uk/efo/EFO_1002028 cicatricial alopecia 'cicatricial alopecia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021034 http://www.orpha.net/ORDO/Orphanet_331244 Other immunodeficiency syndrome with predominantly antibody defects 'Other immunodeficiency syndrome with predominantly antibody defects' SubClassOf 'Immunodeficiency predominantly affecting antibody production' 'Other immunodeficiency syndrome with predominantly antibody defects' SubClassOf 'Immunodeficiency predominantly affecting antibody production' http://www.ebi.ac.uk/efo/EFO_1002026 rubella 'rubella' SubClassOf 'viral disease' 'rubella' SubClassOf 'viral disease' 'rubella' SubClassOf 'Togaviridae infectious disease' http://www.ebi.ac.uk/efo/EFO_1002025 measles 'measles' SubClassOf 'viral disease' 'measles' SubClassOf 'disease has feature' some 'dysentery' 'measles' SubClassOf 'viral disease' 'measles' SubClassOf 'Morbillivirus infectious disease' http://www.ebi.ac.uk/efo/EFO_1002024 streptococcal pharyngitis 'streptococcal pharyngitis' SubClassOf 'streptococcal infection' 'streptococcal pharyngitis' SubClassOf 'streptococcal infection' http://www.ebi.ac.uk/efo/EFO_1002023 plantar wart 'plantar wart' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044989 'plantar wart' SubClassOf 'viral disease' 'plantar wart' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024666 'plantar wart' EquivalentTo 'disease' and ('has_disease_location' some ('foot' or ('part_of' some 'foot'))) http://www.ebi.ac.uk/efo/EFO_1002022 Herpes simplex infection 'Herpes simplex infection' SubClassOf 'viral disease' 'Herpes simplex infection' SubClassOf 'viral disease' http://www.orpha.net/ORDO/Orphanet_331249 Immunodeficiency syndrome with hypopigmentation 'Immunodeficiency syndrome with hypopigmentation' SubClassOf 'Primary hemophagocytic lymphohistiocytosis' 'Immunodeficiency syndrome with hypopigmentation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 'Immunodeficiency syndrome with hypopigmentation' SubClassOf 'pigmentation disease' 'Immunodeficiency syndrome with hypopigmentation' SubClassOf 'Primary hemophagocytic lymphohistiocytosis' 'Immunodeficiency syndrome with hypopigmentation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021094 http://www.orpha.net/ORDO/Orphanet_319595 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency 'Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency' SubClassOf 'Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency' 'Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency' SubClassOf 'Susceptibility to viral and mycobacterial infections' 'Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency' SubClassOf 'Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency' http://purl.obolibrary.org/obo/CLO_0013947 GM17149 'GM17149' SubClassOf 'has_quality' some 'female' 'GM17149' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17149' SubClassOf 'cultured cell' http://www.orpha.net/ORDO/Orphanet_211037 Autosomal dominant proximal spinal muscular atrophy 'Autosomal dominant proximal spinal muscular atrophy' SubClassOf 'Genetic motor neuron disease' 'Autosomal dominant proximal spinal muscular atrophy' SubClassOf 'Proximal spinal muscular atrophy' 'Autosomal dominant proximal spinal muscular atrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 http://purl.obolibrary.org/obo/PO_0007134 sporophyte vegetative stage 'sporophyte vegetative stage' SubClassOf 'sporophyte development stage' 'sporophyte vegetative stage' SubClassOf 'sporophyte development stage' http://www.orpha.net/ORDO/Orphanet_85197 Genochondromatosis type 1 'Genochondromatosis type 1' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'Genochondromatosis type 1' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'Genochondromatosis type 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 'Genochondromatosis type 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0007653 http://www.ebi.ac.uk/efo/EFO_1002031 Hodgkins lymphoma, mixed cellularity 'Hodgkins lymphoma, mixed cellularity' SubClassOf 'Hodgkins lymphoma' 'Hodgkins lymphoma, mixed cellularity' SubClassOf http://purl.obolibrary.org/obo/MONDO_0009348 'Hodgkins lymphoma, mixed cellularity' SubClassOf 'Hodgkins lymphoma' http://www.orpha.net/ORDO/Orphanet_85196 Nodulosis-arthropathy-osteolysis syndrome 'Nodulosis-arthropathy-osteolysis syndrome' SubClassOf 'Multicentric osteolysis-nodulosis-arthropathy spectrum' 'Nodulosis-arthropathy-osteolysis syndrome' SubClassOf 'Multicentric osteolysis-nodulosis-arthropathy spectrum' http://www.ebi.ac.uk/efo/EFO_1002030 chronic rhinosinusitis without nasal polyps 'chronic rhinosinusitis without nasal polyps' SubClassOf 'chronic rhinosinusitis' 'chronic rhinosinusitis without nasal polyps' SubClassOf 'chronic rhinosinusitis' 'chronic rhinosinusitis without nasal polyps' SubClassOf 'has modifier' some 'chronic' http://www.orpha.net/ORDO/Orphanet_85199 Craniosynostosis - anal anomalies - porokeratosis 'Craniosynostosis - anal anomalies - porokeratosis' SubClassOf 'Cleidocranial dysplasia and isolated cranial ossification defect' 'Craniosynostosis - anal anomalies - porokeratosis' SubClassOf 'Syndromic craniosynostosis' 'Craniosynostosis - anal anomalies - porokeratosis' SubClassOf 'Cleidocranial dysplasia and isolated cranial ossification defect' 'Craniosynostosis - anal anomalies - porokeratosis' SubClassOf 'Syndromic craniosynostosis' http://purl.obolibrary.org/obo/NCBITaxon_338 Xanthomonas 'Xanthomonas' SubClassOf 'Bacteria' 'Xanthomonas' SubClassOf 'Bacteria' http://www.orpha.net/ORDO/Orphanet_85198 Dysspondyloenchondromatosis 'Dysspondyloenchondromatosis' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'Dysspondyloenchondromatosis' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' http://www.orpha.net/ORDO/Orphanet_331232 Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells 'Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells' SubClassOf 'Immunodeficiency predominantly affecting antibody production' 'Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells' SubClassOf 'Immunodeficiency predominantly affecting antibody production' http://www.orpha.net/ORDO/Orphanet_331235 Selective IgM deficiency 'Selective IgM deficiency' SubClassOf 'Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells' 'Selective IgM deficiency' SubClassOf 'Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells' 'Selective IgM deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001342 http://purl.obolibrary.org/obo/CLO_0013965 GM17158 'GM17158' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17158' SubClassOf 'has_quality' some 'female' 'GM17158' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_1002039 renal hypertension 'renal hypertension' SubClassOf 'kidney disease' 'renal hypertension' SubClassOf 'secondary hypertension' 'renal hypertension' SubClassOf 'kidney disease' 'renal hypertension' SubClassOf 'secondary hypertension' http://purl.obolibrary.org/obo/CLO_0013964 GM17159 'GM17159' SubClassOf 'cultured cell' 'GM17159' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17159' SubClassOf 'has_quality' some 'female' http://www.orpha.net/ORDO/Orphanet_85191 Singleton-Merten dysplasia 'Singleton-Merten dysplasia' SubClassOf 'Primary bone dysplasia with decreased bone density' 'Singleton-Merten dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018782 'Singleton-Merten dysplasia' SubClassOf 'Primary bone dysplasia with decreased bone density' 'Singleton-Merten dysplasia' SubClassOf 'Immune dysregulation disease with immunodeficiency' http://purl.obolibrary.org/obo/CLO_0013963 GM17156 'GM17156' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17156' SubClassOf 'has_quality' some 'female' 'GM17156' SubClassOf 'cultured cell' http://purl.obolibrary.org/obo/CLO_0013962 GM17157 'GM17157' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17157' SubClassOf 'cultured cell' 'GM17157' SubClassOf 'has_quality' some 'female' http://purl.obolibrary.org/obo/NCBITaxon_337 Burkholderia glumae 'Burkholderia glumae' SubClassOf 'Bacteria' 'Burkholderia glumae' SubClassOf 'Bacteria' http://www.orpha.net/ORDO/Orphanet_85193 Idiopathic juvenile osteoporosis 'Idiopathic juvenile osteoporosis' SubClassOf 'Primary bone dysplasia with decreased bone density' 'Idiopathic juvenile osteoporosis' SubClassOf 'rheumatic disease' 'Idiopathic juvenile osteoporosis' SubClassOf 'osteoporosis' 'Idiopathic juvenile osteoporosis' SubClassOf 'Primary bone dysplasia with decreased bone density' http://purl.obolibrary.org/obo/CLO_0013961 GM17154 'GM17154' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17154' SubClassOf 'cultured cell' 'GM17154' SubClassOf 'has_quality' some 'female' http://www.orpha.net/ORDO/Orphanet_85192 Calvarial doughnut lesions - bone fragility 'Calvarial doughnut lesions - bone fragility' SubClassOf 'Primary bone dysplasia with decreased bone density' 'Calvarial doughnut lesions - bone fragility' SubClassOf 'Primary bone dysplasia with decreased bone density' http://purl.obolibrary.org/obo/CLO_0013960 GM17155 'GM17155' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17155' SubClassOf 'has_quality' some 'female' 'GM17155' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_1002034 secondary hypertension 'secondary hypertension' SubClassOf 'hypertension' 'secondary hypertension' SubClassOf 'hypertension' http://www.orpha.net/ORDO/Orphanet_85195 Familial expansile osteolysis 'Familial expansile osteolysis' SubClassOf 'Primary osteolysis' 'Familial expansile osteolysis' SubClassOf 'Primary osteolysis' http://www.orpha.net/ORDO/Orphanet_85194 Spondylo-ocular syndrome 'Spondylo-ocular syndrome' SubClassOf 'Primary bone dysplasia with decreased bone density' 'Spondylo-ocular syndrome' SubClassOf 'Primary bone dysplasia with decreased bone density' 'Spondylo-ocular syndrome' SubClassOf 'Syndromic cataract' 'Spondylo-ocular syndrome' SubClassOf 'Congenital vitreoretinal dysplasia' http://purl.obolibrary.org/obo/CLO_0013956 GM17150 'GM17150' SubClassOf 'cultured cell' 'GM17150' SubClassOf 'has_quality' some 'female' 'GM17150' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/PO_0020103 flag leaf 'flag leaf' SubClassOf 'vascular leaf' 'flag leaf' SubClassOf 'vascular leaf' http://purl.obolibrary.org/obo/PO_0020100 hypocotyl 'hypocotyl' SubClassOf 'shoot axis' 'hypocotyl' SubClassOf 'shoot axis' http://www.ebi.ac.uk/efo/EFO_1002040 Corneal astigmatism 'Corneal astigmatism' SubClassOf 'Astigmatism' 'Corneal astigmatism' SubClassOf 'Astigmatism' 'Corneal astigmatism' SubClassOf 'has_disease_location' some ('cornea' or ('part_of' some 'cornea')) http://www.orpha.net/ORDO/Orphanet_331220 Immunodeficiency due to absence of thymus 'Immunodeficiency due to absence of thymus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018035 http://www.orpha.net/ORDO/Orphanet_261304 Paternal 20q13.2q13.3 microdeletion syndrome 'Paternal 20q13.2q13.3 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 20' 'Paternal 20q13.2q13.3 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 20' http://www.ebi.ac.uk/efo/EFO_1002049 glomerular disease 'glomerular disease' SubClassOf 'kidney disease' 'glomerular disease' SubClassOf 'kidney disease' 'glomerular disease' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'glomerular disease' SubClassOf 'has_disease_location' some ('renal glomerulus' or ('part_of' some 'renal glomerulus')) http://www.ebi.ac.uk/efo/EFO_1002048 kidney failure 'kidney failure' SubClassOf 'kidney disease' 'kidney failure' SubClassOf 'kidney disease' http://www.orpha.net/ORDO/Orphanet_331223 Hyper-IgE syndrome 'Hyper-IgE syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018035 'Hyper-IgE syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002468 http://www.ebi.ac.uk/efo/EFO_1002047 spotted fever 'spotted fever' SubClassOf 'rickettsiosis' 'spotted fever' SubClassOf 'Rickettsiaceae infectious disease' 'spotted fever' SubClassOf 'rickettsiosis' http://www.orpha.net/ORDO/Orphanet_262638 Partial duplication of chromosome 8 'Partial duplication of chromosome 8' SubClassOf 'Partial autosomal trisomy/tetrasomy' 'Partial duplication of chromosome 8' SubClassOf 'Partial autosomal trisomy/tetrasomy' http://www.ebi.ac.uk/efo/EFO_1002046 apocrine sweat gland disease 'apocrine sweat gland disease' SubClassOf 'sweat gland disease' 'apocrine sweat gland disease' SubClassOf 'sweat gland disease' 'apocrine sweat gland disease' SubClassOf 'has_disease_location' some ('apocrine sweat gland' or ('part_of' some 'apocrine sweat gland')) http://www.orpha.net/ORDO/Orphanet_331226 Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency 'Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency' SubClassOf 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency' http://www.orpha.net/ORDO/Orphanet_262643 Partial trisomy/tetrasomy of chromosome 9 'Partial trisomy/tetrasomy of chromosome 9' SubClassOf 'Partial autosomal trisomy/tetrasomy' 'Partial trisomy/tetrasomy of chromosome 9' SubClassOf 'Partial autosomal trisomy/tetrasomy' http://purl.obolibrary.org/obo/HP_0007313 cerebral degeneration 'cerebral degeneration' SubClassOf 'has part' some ('quality' and ('has component' some 'abnormal') and ('inheres in part of' some 'nervous system')) http://www.orpha.net/ORDO/Orphanet_319574 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency' SubClassOf 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency' 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency' SubClassOf 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency' 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0013953 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency' SubClassOf 'autosomal recessive disease' http://www.orpha.net/ORDO/Orphanet_261311 20q13.33 microdeletion syndrome '20q13.33 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 20' '20q13.33 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 20' http://purl.obolibrary.org/obo/BTO_0000583 bone marrow cancer cell 'bone marrow cancer cell' SubClassOf 'located_in' some 'hematopoietic system' http://www.ebi.ac.uk/efo/EFO_1002051 facial nerve disease 'facial nerve disease' SubClassOf 'peripheral nervous system disease' 'facial nerve disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003569 'facial nerve disease' SubClassOf 'peripheral nervous system disease' http://www.ebi.ac.uk/efo/EFO_1002050 nephritis 'nephritis' SubClassOf 'kidney disease' 'nephritis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021166 'nephritis' SubClassOf 'kidney disease' http://www.orpha.net/ORDO/Orphanet_319589 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency 'Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency' SubClassOf 'Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency' 'Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency' SubClassOf 'Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency' http://www.orpha.net/ORDO/Orphanet_262628 Partial duplication of chromosome 6 'Partial duplication of chromosome 6' SubClassOf 'Partial autosomal trisomy/tetrasomy' 'Partial duplication of chromosome 6' SubClassOf 'Partial autosomal trisomy/tetrasomy' http://www.orpha.net/ORDO/Orphanet_319581 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency 'Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency' SubClassOf 'Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency' 'Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency' SubClassOf 'Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency' http://www.orpha.net/ORDO/Orphanet_262633 Partial duplication of chromosome 7 'Partial duplication of chromosome 7' SubClassOf 'Partial autosomal trisomy/tetrasomy' 'Partial duplication of chromosome 7' SubClassOf 'Partial autosomal trisomy/tetrasomy' http://www.orpha.net/ORDO/Orphanet_248340 Isolated delta-storage pool disease 'Isolated delta-storage pool disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018796 http://purl.obolibrary.org/obo/CLO_0013990 GM17166 'GM17166' SubClassOf 'has_quality' some 'female' 'GM17166' SubClassOf 'cultured cell' 'GM17166' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/CLO_0013996 GM17163 'GM17163' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17163' SubClassOf 'cultured cell' 'GM17163' SubClassOf 'has_quality' some 'female' http://purl.obolibrary.org/obo/CLO_0013994 GM17164 'GM17164' SubClassOf 'has_quality' some 'female' 'GM17164' SubClassOf 'cultured cell' 'GM17164' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://www.orpha.net/ORDO/Orphanet_319558 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency 'Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency' SubClassOf 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency' 'Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency' SubClassOf 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency' http://purl.obolibrary.org/obo/CLO_0013993 GM17165 'GM17165' SubClassOf 'has_quality' some 'female' 'GM17165' SubClassOf 'cultured cell' 'GM17165' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/CLO_0013989 GM17167 'GM17167' SubClassOf 'has_quality' some 'female' 'GM17167' SubClassOf 'cultured cell' 'GM17167' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://www.orpha.net/ORDO/Orphanet_319552 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency 'Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency' SubClassOf 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency' 'Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency' SubClassOf 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency' http://purl.obolibrary.org/obo/HP_0007333 Hypoplasia of the frontal lobes 'Hypoplasia of the frontal lobes' SubClassOf 'abnormality of brain morphology' 'Hypoplasia of the frontal lobes' SubClassOf 'abnormality of brain morphology' http://purl.obolibrary.org/obo/PO_0007109 SE.99 maximum stem length reached stage 'SE.99 maximum stem length reached stage' SubClassOf 'stem elongation stage' 'SE.99 maximum stem length reached stage' SubClassOf 'stem elongation stage' http://purl.obolibrary.org/obo/CHEBI_84056 N-acetylisoleucine 'N-acetylisoleucine' SubClassOf 'chemical entity' 'N-acetylisoleucine' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_319569 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency' SubClassOf 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency' 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency' SubClassOf 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency' 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0008856 http://www.orpha.net/ORDO/Orphanet_211062 Hereditary episodic ataxia 'Hereditary episodic ataxia' SubClassOf 'hereditary ataxia' http://www.orpha.net/ORDO/Orphanet_211067 Episodic ataxia type 5 'Episodic ataxia type 5' SubClassOf 'Hereditary episodic ataxia' 'Episodic ataxia type 5' SubClassOf 'Hereditary episodic ataxia' http://www.orpha.net/ORDO/Orphanet_319563 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency 'Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency' SubClassOf 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency' 'Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency' SubClassOf 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency' http://purl.obolibrary.org/obo/HP_0007340 Lower limb Muscle weakness 'Lower limb Muscle weakness' SubClassOf 'Muscle weakness' 'Lower limb Muscle weakness' SubClassOf 'Muscle weakness' http://www.ebi.ac.uk/efo/EFO_0008531 GLP-1-stimulated insulin response 'GLP-1-stimulated insulin response' SubClassOf 'is_about' some 'endocrine pancreas' 'GLP-1-stimulated insulin response' SubClassOf 'is_about' some 'glucose homeostasis' 'GLP-1-stimulated insulin response' SubClassOf 'is_about' some 'type II diabetes mellitus' http://www.ebi.ac.uk/efo/EFO_0008533 dyspepsia 'dyspepsia' SubClassOf 'digestive system disease' 'dyspepsia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001318 http://www.ebi.ac.uk/efo/EFO_0008534 tryptophan measurement 'tryptophan measurement' SubClassOf 'metabolite measurement' 'tryptophan measurement' SubClassOf 'is_about' some 'tryptophan' 'tryptophan measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0007203 cervicofacial actinomycosis 'cervicofacial actinomycosis' SubClassOf 'head and neck disorder' 'cervicofacial actinomycosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0005042 'cervicofacial actinomycosis' SubClassOf 'actinomycosis' 'cervicofacial actinomycosis' SubClassOf 'head and neck disorder' http://www.ebi.ac.uk/efo/EFO_0007202 cervical incompetence 'cervical incompetence' SubClassOf 'female reproductive system disease' 'cervical incompetence' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002256 'cervical incompetence' SubClassOf 'has_disease_location' some ('uterine cervix' or ('part_of' some 'uterine cervix')) http://www.ebi.ac.uk/efo/EFO_0007201 cerebral ventricle cancer 'cerebral ventricle cancer' SubClassOf 'brain neoplasm' 'cerebral ventricle cancer' SubClassOf 'brain neoplasm' http://www.ebi.ac.uk/efo/EFO_0007200 cerebral toxoplasmosis 'cerebral toxoplasmosis' SubClassOf 'immune system disease' 'cerebral toxoplasmosis' SubClassOf 'immune system disease' 'cerebral toxoplasmosis' SubClassOf 'has_disease_location' some ('brain' or ('part_of' some 'brain')) http://www.ebi.ac.uk/efo/EFO_0008530 kynurenine:tryptophan ratio 'kynurenine:tryptophan ratio' SubClassOf 'is_about' some 'tryptophan' http://www.ebi.ac.uk/efo/EFO_0007207 chromoblastomycosis 'chromoblastomycosis' SubClassOf 'infectious disease' 'chromoblastomycosis' SubClassOf 'infectious disease' 'chromoblastomycosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000255 'chromoblastomycosis' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'chromoblastomycosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002040 http://www.ebi.ac.uk/efo/EFO_0008539 vitamin D dietary intake measurement 'vitamin D dietary intake measurement' SubClassOf 'diet measurement' 'vitamin D dietary intake measurement' SubClassOf 'is_about' some 'Vitamin D' 'vitamin D dietary intake measurement' SubClassOf 'diet measurement' http://www.ebi.ac.uk/efo/EFO_0007206 choroid plexus cancer 'choroid plexus cancer' SubClassOf 'brain neoplasm' 'choroid plexus cancer' SubClassOf 'brain neoplasm' http://www.ebi.ac.uk/efo/EFO_0007205 Chlamydia trachomatis infectious disease 'Chlamydia trachomatis infectious disease' SubClassOf 'bacterial disease' 'Chlamydia trachomatis infectious disease' SubClassOf 'bacterial disease' 'Chlamydia trachomatis infectious disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000315 'Chlamydia trachomatis infectious disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021697 http://www.ebi.ac.uk/efo/EFO_0007204 chickenpox 'chickenpox' SubClassOf 'skin disease' 'chickenpox' SubClassOf 'viral disease' 'chickenpox' SubClassOf 'has_disease_location' some ('zone of skin' or ('part_of' some 'zone of skin')) 'chickenpox' SubClassOf 'disease has feature' some 'exanthem' 'chickenpox' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024294 'chickenpox' SubClassOf 'viral disease' 'chickenpox' SubClassOf 'Varicella Zoster infection' 'chickenpox' SubClassOf 'vesiculobullous skin disease' http://www.ebi.ac.uk/efo/EFO_0008535 post-traumatic stress disorder symptom measurement 'post-traumatic stress disorder symptom measurement' SubClassOf 'mental or behavioural disorder biomarker' 'post-traumatic stress disorder symptom measurement' SubClassOf 'mental or behavioural disorder biomarker' 'post-traumatic stress disorder symptom measurement' SubClassOf 'is_about' some 'post-traumatic stress disorder' http://www.ebi.ac.uk/efo/EFO_0008536 anti-centromere-antibody-positive systemic scleroderma 'anti-centromere-antibody-positive systemic scleroderma' SubClassOf 'systemic scleroderma' 'anti-centromere-antibody-positive systemic scleroderma' SubClassOf 'systemic scleroderma' 'anti-centromere-antibody-positive systemic scleroderma' SubClassOf 'has_disease_location' some ('epidermis' or ('part_of' some 'epidermis')) http://www.ebi.ac.uk/efo/EFO_0007209 Ciliophora infectious disease 'Ciliophora infectious disease' SubClassOf 'infectious disease' 'Ciliophora infectious disease' SubClassOf 'infectious disease' 'Ciliophora infectious disease' SubClassOf 'has_disease_location' some ('alveolus' or ('part_of' some 'alveolus')) http://www.ebi.ac.uk/efo/EFO_0008537 anti-topoisomerase-I-antibody-positive systemic scleroderma 'anti-topoisomerase-I-antibody-positive systemic scleroderma' SubClassOf 'systemic scleroderma' 'anti-topoisomerase-I-antibody-positive systemic scleroderma' SubClassOf 'systemic scleroderma' 'anti-topoisomerase-I-antibody-positive systemic scleroderma' SubClassOf 'has_disease_location' some ('epidermis' or ('part_of' some 'epidermis')) http://www.ebi.ac.uk/efo/EFO_0007208 Churg-Strauss syndrome 'Churg-Strauss syndrome' SubClassOf 'heart disease' 'Churg-Strauss syndrome' SubClassOf 'kidney disease' 'Churg-Strauss syndrome' SubClassOf 'lung disease' 'Churg-Strauss syndrome' SubClassOf 'vasculitis' 'Churg-Strauss syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Churg-Strauss syndrome' SubClassOf 'has_disease_location' some ('zone of skin' or ('part_of' some 'zone of skin')) 'Churg-Strauss syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015492 'Churg-Strauss syndrome' SubClassOf 'vasculitis' 'Churg-Strauss syndrome' SubClassOf 'has_disease_location' some ('central nervous system' or ('part_of' some 'central nervous system')) 'Churg-Strauss syndrome' SubClassOf 'has_disease_location' some ('lung' or ('part_of' some 'lung')) 'Churg-Strauss syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019724 'Churg-Strauss syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016177 'Churg-Strauss syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043218 'Churg-Strauss syndrome' SubClassOf 'has_disease_location' some ('eosinophil' or ('part_of' some 'eosinophil')) 'Churg-Strauss syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017952 'Churg-Strauss syndrome' SubClassOf 'has_disease_location' some ('kidney' or ('part_of' some 'kidney')) 'Churg-Strauss syndrome' SubClassOf 'has_disease_location' some ('heart' or ('part_of' some 'heart')) http://www.ebi.ac.uk/efo/EFO_0008538 helping behavior measurement 'helping behavior measurement' SubClassOf 'measurement' 'helping behavior measurement' SubClassOf 'measurement' 'helping behavior measurement' SubClassOf 'is_about' some 'helping behaviour' http://www.ebi.ac.uk/efo/EFO_0008520 primary progressive multiple sclerosis 'primary progressive multiple sclerosis' SubClassOf 'multiple sclerosis' 'primary progressive multiple sclerosis' SubClassOf 'multiple sclerosis' 'primary progressive multiple sclerosis' SubClassOf 'chronic progressive multiple sclerosis' http://www.ebi.ac.uk/efo/EFO_0008521 rhinitis 'rhinitis' SubClassOf 'respiratory system disease' 'rhinitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021166 'rhinitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002232 'rhinitis' SubClassOf 'respiratory system disease' http://www.ebi.ac.uk/efo/EFO_0008522 secondary progressive multiple sclerosis 'secondary progressive multiple sclerosis' SubClassOf 'multiple sclerosis' 'secondary progressive multiple sclerosis' SubClassOf 'chronic progressive multiple sclerosis' 'secondary progressive multiple sclerosis' SubClassOf 'multiple sclerosis' http://www.ebi.ac.uk/efo/EFO_0008523 sessile serrated polyp 'sessile serrated polyp' SubClassOf 'Digestive System Adenoma' 'sessile serrated polyp' SubClassOf 'Digestive System Adenoma' http://www.ebi.ac.uk/efo/EFO_0008528 urothelial carcinoma 'urothelial carcinoma' SubClassOf 'Transitional Cell Carcinoma' 'urothelial carcinoma' SubClassOf 'Malignant Urinary System Neoplasm' 'urothelial carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024337 'urothelial carcinoma' SubClassOf 'Transitional Cell Carcinoma' http://www.ebi.ac.uk/efo/EFO_0008529 kynurenine measurement 'kynurenine measurement' SubClassOf 'is_about' some 'kynurenine' http://www.ebi.ac.uk/efo/EFO_0008524 small cell carcinoma 'small cell carcinoma' SubClassOf 'carcinoma' 'small cell carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002120 'small cell carcinoma' SubClassOf 'carcinoma' http://www.ebi.ac.uk/efo/EFO_0008525 spinal muscular atrophy 'spinal muscular atrophy' SubClassOf 'motor neuron disease' 'spinal muscular atrophy' SubClassOf 'motor neuron disease' 'spinal muscular atrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003182 'spinal muscular atrophy' SubClassOf 'myopathy' http://www.ebi.ac.uk/efo/EFO_0008526 status epilepticus 'status epilepticus' SubClassOf 'epilepsy' 'status epilepticus' SubClassOf 'epilepsy' http://purl.obolibrary.org/obo/HP_0030084 Clinodactyly 'Clinodactyly' SubClassOf 'abnormality of the skeletal system' 'Clinodactyly' SubClassOf 'abnormality of the skeletal system' http://www.ebi.ac.uk/efo/EFO_0008527 steatosis 'steatosis' SubClassOf 'morphologic finding' 'steatosis' SubClassOf 'morphologic finding' http://www.ebi.ac.uk/efo/EFO_0007221 contagious pleuropneumonia 'contagious pleuropneumonia' SubClassOf 'pneumonia' 'contagious pleuropneumonia' SubClassOf 'pneumonia' http://www.ebi.ac.uk/efo/EFO_0008553 femur fracture 'femur fracture' SubClassOf 'has_disease_location' some 'femur' http://www.ebi.ac.uk/efo/EFO_0007220 congenital toxoplasmosis 'congenital toxoplasmosis' SubClassOf 'immune system disease' 'congenital toxoplasmosis' EquivalentTo 'toxoplasmosis' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021140) 'congenital toxoplasmosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015659 'congenital toxoplasmosis' SubClassOf 'immune system disease' 'congenital toxoplasmosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016511 'congenital toxoplasmosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'congenital toxoplasmosis' SubClassOf 'toxoplasmosis' http://www.ebi.ac.uk/efo/EFO_0007225 cowpox 'cowpox' SubClassOf 'viral disease' 'cowpox' SubClassOf 'has_disease_location' some ('zone of skin' or ('part_of' some 'zone of skin')) 'cowpox' SubClassOf 'viral disease' http://www.ebi.ac.uk/efo/EFO_0007224 coronavirus infectious disease 'coronavirus infectious disease' SubClassOf 'viral disease' 'coronavirus infectious disease' SubClassOf 'viral disease' 'coronavirus infectious disease' SubClassOf 'Coronaviridae infectious disease' http://www.ebi.ac.uk/efo/EFO_0008550 Hepatobiliary Neoplasm 'Hepatobiliary Neoplasm' SubClassOf 'digestive system neoplasm' 'Hepatobiliary Neoplasm' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002515 'Hepatobiliary Neoplasm' SubClassOf 'digestive system neoplasm' 'Hepatobiliary Neoplasm' SubClassOf 'has_disease_location' some 'hepatobiliary system' http://www.ebi.ac.uk/efo/EFO_0007223 Coronaviridae infectious disease 'Coronaviridae infectious disease' SubClassOf 'viral disease' 'Coronaviridae infectious disease' SubClassOf 'viral disease' 'Coronaviridae infectious disease' SubClassOf 'Nidovirales infectious disease' http://www.ebi.ac.uk/efo/EFO_0007222 contagious pustular dermatitis 'contagious pustular dermatitis' SubClassOf 'viral disease' 'contagious pustular dermatitis' SubClassOf 'viral disease' 'contagious pustular dermatitis' SubClassOf 'has_disease_location' some ('zone of skin' or ('part_of' some 'zone of skin')) http://www.ebi.ac.uk/efo/EFO_0007229 cryptococcosis 'cryptococcosis' SubClassOf 'immune system disease' 'cryptococcosis' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'cryptococcosis' SubClassOf 'immune system disease' 'cryptococcosis' SubClassOf 'participates_in' some 'infection' 'cryptococcosis' SubClassOf 'parasitic infection' 'cryptococcosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002312 http://www.ebi.ac.uk/efo/EFO_0007228 cryptococcal meningitis 'cryptococcal meningitis' SubClassOf 'infectious meningitis' 'cryptococcal meningitis' SubClassOf 'cryptococcosis' 'cryptococcal meningitis' SubClassOf 'infectious meningitis' 'cryptococcal meningitis' SubClassOf 'fungal meningitis' http://www.ebi.ac.uk/efo/EFO_0007227 croup 'croup' SubClassOf 'infectious disease' 'croup' SubClassOf 'respiratory system disease' 'croup' SubClassOf 'infectious disease' 'croup' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000263 'croup' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004777 'croup' SubClassOf 'bronchitis' 'croup' SubClassOf 'has_disease_location' some ('respiratory system' or ('part_of' some 'respiratory system')) http://www.ebi.ac.uk/efo/EFO_0007226 coxsackievirus infectious disease 'coxsackievirus infectious disease' SubClassOf 'infectious disease' 'coxsackievirus infectious disease' SubClassOf 'infectious disease' 'coxsackievirus infectious disease' SubClassOf 'Enterovirus infectious disease' http://www.orpha.net/ORDO/Orphanet_35107 Desmosterolosis 'Desmosterolosis' SubClassOf 'Neonatal osteosclerotic dysplasia' 'Desmosterolosis' SubClassOf 'Sterol biosynthesis disorder' 'Desmosterolosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 'Desmosterolosis' SubClassOf 'Neonatal osteosclerotic dysplasia' 'Desmosterolosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0045017 http://www.orpha.net/ORDO/Orphanet_319195 Chondroectodermal dysplasia with night blindness 'Chondroectodermal dysplasia with night blindness' SubClassOf 'Ectodermal dysplasia syndrome' 'Chondroectodermal dysplasia with night blindness' SubClassOf 'Primary bone dysplasia with decreased bone density' 'Chondroectodermal dysplasia with night blindness' SubClassOf 'Rare genetic neurological disorder' 'Chondroectodermal dysplasia with night blindness' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 'Chondroectodermal dysplasia with night blindness' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Chondroectodermal dysplasia with night blindness' SubClassOf 'Ectodermal dysplasia syndrome' 'Chondroectodermal dysplasia with night blindness' SubClassOf 'eye disease' 'Chondroectodermal dysplasia with night blindness' SubClassOf 'Primary bone dysplasia with decreased bone density' http://www.orpha.net/ORDO/Orphanet_319199 Autosomal recessive spastic paraplegia type 53 'Autosomal recessive spastic paraplegia type 53' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Autosomal recessive spastic paraplegia type 53' SubClassOf 'Autosomal recessive complex spastic paraplegia' http://purl.obolibrary.org/obo/UBERON_2000549 posttemporal 'posttemporal' SubClassOf http://purl.obolibrary.org/obo/UBERON_0007829 'posttemporal' SubClassOf http://purl.obolibrary.org/obo/UBERON_0011164 'posttemporal' SubClassOf http://purl.obolibrary.org/obo/UBERON_0008907 http://www.orpha.net/ORDO/Orphanet_319192 Diencephalic-mesencephalic junction dysplasia 'Diencephalic-mesencephalic junction dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016054 'Diencephalic-mesencephalic junction dysplasia' SubClassOf 'Rare genetic neurological disorder' http://www.ebi.ac.uk/efo/EFO_0007210 clonorchiasis 'clonorchiasis' SubClassOf 'parasitic infection' 'clonorchiasis' SubClassOf 'has_disease_location' some ('liver' or ('part_of' some 'liver')) 'clonorchiasis' SubClassOf 'parasitic infection' 'clonorchiasis' SubClassOf 'Helminthiasis' http://www.ebi.ac.uk/efo/EFO_0008542 complement C3d subcomponent measurement 'complement C3d subcomponent measurement' SubClassOf 'blood protein measurement' 'complement C3d subcomponent measurement' SubClassOf 'is_about' some 'blood serum' 'complement C3d subcomponent measurement' SubClassOf 'blood protein measurement' http://www.ebi.ac.uk/efo/EFO_0008543 c3d:C3 ratio 'c3d:C3 ratio' SubClassOf 'blood protein measurement' 'c3d:C3 ratio' SubClassOf 'blood protein measurement' 'c3d:C3 ratio' SubClassOf 'is_about' some 'blood serum' http://www.ebi.ac.uk/efo/EFO_0008544 analgesia requirement measurement 'analgesia requirement measurement' SubClassOf 'measurement' 'analgesia requirement measurement' SubClassOf 'measurement' 'analgesia requirement measurement' SubClassOf 'is_about' some 'pain' http://www.ebi.ac.uk/efo/EFO_0008545 Malignant Breast Phyllodes Tumor 'Malignant Breast Phyllodes Tumor' SubClassOf 'phyllodes tumor' 'Malignant Breast Phyllodes Tumor' SubClassOf 'breast neoplasm' 'Malignant Breast Phyllodes Tumor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021047 'Malignant Breast Phyllodes Tumor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0007254 'Malignant Breast Phyllodes Tumor' SubClassOf 'has_disease_location' some 'mammary gland' 'Malignant Breast Phyllodes Tumor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0037003 http://www.ebi.ac.uk/efo/EFO_0007214 common cold 'common cold' SubClassOf 'respiratory system disease' 'common cold' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001040 'common cold' SubClassOf 'has_disease_location' some ('respiratory system' or ('part_of' some 'respiratory system')) 'common cold' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021137 'common cold' SubClassOf 'respiratory system disease' http://www.ebi.ac.uk/efo/EFO_0007213 Colorado tick fever 'Colorado tick fever' SubClassOf 'viral disease' 'Colorado tick fever' SubClassOf 'viral disease' 'Colorado tick fever' SubClassOf 'viral encephalitis' 'Colorado tick fever' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015659 'Colorado tick fever' SubClassOf 'Reoviridae infectious disease' http://www.ebi.ac.uk/efo/EFO_0007212 coccidiosis 'coccidiosis' SubClassOf 'parasitic infection' 'coccidiosis' SubClassOf 'has_disease_location' some ('intestine' or ('part_of' some 'intestine')) 'coccidiosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002428 'coccidiosis' SubClassOf 'parasitic infection' http://www.ebi.ac.uk/efo/EFO_0008541 response to opioid 'response to opioid' SubClassOf 'response to drug' 'response to opioid' SubClassOf 'response to drug' http://www.ebi.ac.uk/efo/EFO_0007211 coccidioidomycosis 'coccidioidomycosis' SubClassOf 'infectious disease' 'coccidioidomycosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000308 'coccidioidomycosis' SubClassOf 'parasitic infection' 'coccidioidomycosis' SubClassOf 'infectious disease' 'coccidioidomycosis' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://www.ebi.ac.uk/efo/EFO_0007218 congenital rubella 'congenital rubella' SubClassOf 'viral disease' 'congenital rubella' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021140 'congenital rubella' SubClassOf 'rubella' 'congenital rubella' EquivalentTo 'rubella' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021140) 'congenital rubella' SubClassOf 'viral disease' http://www.ebi.ac.uk/efo/EFO_0007217 congenital nystagmus 'congenital nystagmus' SubClassOf 'genetic disorder' 'congenital nystagmus' SubClassOf 'eye disease' 'congenital nystagmus' SubClassOf 'has_disease_location' some ('eye' or ('part_of' some 'eye')) 'congenital nystagmus' SubClassOf 'genetic disorder' 'congenital nystagmus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'congenital nystagmus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004843 'congenital nystagmus' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0004843 and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021140) http://www.ebi.ac.uk/efo/EFO_0007216 congenital diaphragmatic hernia 'congenital diaphragmatic hernia' SubClassOf 'diaphragm disease' 'congenital diaphragmatic hernia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'congenital diaphragmatic hernia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015118 'congenital diaphragmatic hernia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015879 'congenital diaphragmatic hernia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015215 http://www.ebi.ac.uk/efo/EFO_0007215 composite lymphoma 'composite lymphoma' SubClassOf 'lymphoma' 'composite lymphoma' SubClassOf 'lymphoma' http://www.ebi.ac.uk/efo/EFO_0008546 poisoning 'poisoning' SubClassOf 'disease' 'poisoning' SubClassOf http://purl.obolibrary.org/obo/MONDO_0029001 http://www.ebi.ac.uk/efo/EFO_0007219 congenital syphilis 'congenital syphilis' SubClassOf 'syphilis' 'congenital syphilis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016511 'congenital syphilis' SubClassOf 'syphilis' 'congenital syphilis' EquivalentTo 'syphilis' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021140) http://www.ebi.ac.uk/efo/EFO_0008549 digestive system neoplasm 'digestive system neoplasm' SubClassOf 'neoplasm' 'digestive system neoplasm' SubClassOf 'neoplasm' http://www.ebi.ac.uk/efo/EFO_0007243 Ebola hemorrhagic fever 'Ebola hemorrhagic fever' SubClassOf 'viral disease' 'Ebola hemorrhagic fever' SubClassOf 'Filoviridae infectious disease' 'Ebola hemorrhagic fever' SubClassOf 'viral disease' 'Ebola hemorrhagic fever' SubClassOf 'disease has feature' some 'conjunctivitis' 'Ebola hemorrhagic fever' SubClassOf 'disease has feature' some 'dysentery' 'Ebola hemorrhagic fever' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018087 http://www.ebi.ac.uk/efo/EFO_0008575 Osteochondrosis 'Osteochondrosis' SubClassOf 'bone disease' 'Osteochondrosis' SubClassOf 'osteonecrosis' http://www.ebi.ac.uk/efo/EFO_0007242 Eastern equine encephalitis 'Eastern equine encephalitis' SubClassOf 'encephalomyelitis' 'Eastern equine encephalitis' SubClassOf 'viral encephalitis' 'Eastern equine encephalitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015659 'Eastern equine encephalitis' SubClassOf 'encephalomyelitis' http://www.ebi.ac.uk/efo/EFO_0007241 dracunculiasis 'dracunculiasis' SubClassOf 'parasitic infection' 'dracunculiasis' SubClassOf 'Nematoda infectious disease' 'dracunculiasis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016075 'dracunculiasis' SubClassOf 'parasitic infection' http://www.ebi.ac.uk/efo/EFO_0007240 dourine 'dourine' SubClassOf 'animal disease' 'dourine' SubClassOf 'animal disease' http://www.ebi.ac.uk/efo/EFO_0008578 sperm motility measurement 'sperm motility measurement' SubClassOf 'measurement' 'sperm motility measurement' SubClassOf 'is_about' some 'reproductive process' 'sperm motility measurement' SubClassOf 'measurement' 'sperm motility measurement' SubClassOf 'is_about' some 'gonad' http://www.ebi.ac.uk/efo/EFO_0008571 viral conjunctivitis 'viral conjunctivitis' SubClassOf 'conjunctivitis' 'viral conjunctivitis' SubClassOf 'conjunctivitis' 'viral conjunctivitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020950 http://www.ebi.ac.uk/efo/EFO_0007247 echovirus infectious disease 'echovirus infectious disease' SubClassOf 'infectious disease' 'echovirus infectious disease' SubClassOf 'Enterovirus infectious disease' 'echovirus infectious disease' SubClassOf 'infectious disease' http://www.ebi.ac.uk/efo/EFO_0007246 echinostomiasis 'echinostomiasis' SubClassOf 'parasitic infection' 'echinostomiasis' SubClassOf 'parasitic infection' 'echinostomiasis' SubClassOf 'Helminthiasis' 'echinostomiasis' SubClassOf 'has_disease_location' some ('intestine' or ('part_of' some 'intestine')) http://www.orpha.net/ORDO/Orphanet_35122 Congenital sucrase-isomaltase deficiency 'Congenital sucrase-isomaltase deficiency' SubClassOf 'Disorder of carbohydrate absorption and transport' 'Congenital sucrase-isomaltase deficiency' SubClassOf 'malabsorption syndrome' 'Congenital sucrase-isomaltase deficiency' SubClassOf 'Congenital intestinal disease due to an enzymatic defect' 'Congenital sucrase-isomaltase deficiency' SubClassOf 'Disorder of carbohydrate absorption and transport' 'Congenital sucrase-isomaltase deficiency' SubClassOf 'intestinal disaccharide deficiency and disaccharide malabsorption' 'Congenital sucrase-isomaltase deficiency' SubClassOf 'Congenital intestinal disease due to an enzymatic defect' http://www.ebi.ac.uk/efo/EFO_0007245 echinococcosis 'echinococcosis' SubClassOf 'parasitic infection' 'echinococcosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0042488 'echinococcosis' SubClassOf 'parasitic infection' http://www.ebi.ac.uk/efo/EFO_0008573 alcoholic liver disease 'alcoholic liver disease' SubClassOf 'liver disease' 'alcoholic liver disease' SubClassOf 'liver disease' 'alcoholic liver disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021699 http://www.orpha.net/ORDO/Orphanet_35121 Acid phosphatase deficiency 'Acid phosphatase deficiency' SubClassOf 'Lysosomal disease' 'Acid phosphatase deficiency' SubClassOf 'Lysosomal disease' http://www.ebi.ac.uk/efo/EFO_0007244 Ebstein anomaly 'Ebstein anomaly' SubClassOf 'tricuspid valve disease' 'Ebstein anomaly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020289 'Ebstein anomaly' SubClassOf 'has_disease_location' some ('aortic valve' or ('part_of' some 'aortic valve')) 'Ebstein anomaly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018797 'Ebstein anomaly' SubClassOf 'aortic disease' http://www.orpha.net/ORDO/Orphanet_35120 Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency 'Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency' SubClassOf 'Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder' 'Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency' SubClassOf 'Disorder of pyrimidine metabolism' 'Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency' SubClassOf 'Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder' 'Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency' SubClassOf 'Disorder of pyrimidine metabolism' 'Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003689 http://www.ebi.ac.uk/efo/EFO_0007249 emphysematous cholecystitis 'emphysematous cholecystitis' SubClassOf 'cystitis' 'emphysematous cholecystitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004789 'emphysematous cholecystitis' SubClassOf 'has_disease_location' some ('gallbladder' or ('part_of' some 'gallbladder')) 'emphysematous cholecystitis' SubClassOf 'cystitis' http://www.orpha.net/ORDO/Orphanet_35125 Epidermal nevus syndrome 'Epidermal nevus syndrome' SubClassOf 'Syndromic ichthyosis associated with ocular features' 'Epidermal nevus syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021454 'Epidermal nevus syndrome' SubClassOf 'melanocytic nevus' 'Epidermal nevus syndrome' SubClassOf 'Syndromic ichthyosis associated with ocular features' http://www.ebi.ac.uk/efo/EFO_0007248 egg allergy 'egg allergy' SubClassOf 'food allergy' 'egg allergy' SubClassOf 'allergy' 'egg allergy' SubClassOf 'food allergy' http://www.orpha.net/ORDO/Orphanet_210122 Congenital alveolar capillary dysplasia 'Congenital alveolar capillary dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017017 'Congenital alveolar capillary dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020295 http://www.ebi.ac.uk/efo/EFO_0008580 response to taxane 'response to taxane' SubClassOf 'response to antimicrotubule agent' 'response to taxane' SubClassOf 'response to antimicrotubule agent' 'response to taxane' SubClassOf 'has_input' some 'taxane' http://www.orpha.net/ORDO/Orphanet_139578 Hereditary sensory and autonomic neuropathy with spastic paraplegia 'Hereditary sensory and autonomic neuropathy with spastic paraplegia' SubClassOf 'Autosomal recessive hereditary sensory and autonomic neuropathy' 'Hereditary sensory and autonomic neuropathy with spastic paraplegia' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Hereditary sensory and autonomic neuropathy with spastic paraplegia' SubClassOf 'Autosomal recessive hereditary sensory and autonomic neuropathy' 'Hereditary sensory and autonomic neuropathy with spastic paraplegia' SubClassOf 'Autosomal recessive complex spastic paraplegia' http://www.ebi.ac.uk/efo/EFO_0008581 salivary gland disease 'salivary gland disease' SubClassOf 'mouth disease' 'salivary gland disease' SubClassOf 'mouth disease' 'salivary gland disease' SubClassOf 'has_disease_location' some ('saliva-secreting gland' or ('part_of' some 'saliva-secreting gland')) http://www.ebi.ac.uk/efo/EFO_0007250 encephalitozoonosis 'encephalitozoonosis' SubClassOf 'infectious disease' 'encephalitozoonosis' SubClassOf 'infectious disease' 'encephalitozoonosis' SubClassOf 'microsporidiosis' http://www.orpha.net/ORDO/Orphanet_139573 Hereditary sensory and autonomic neuropathy with deafness and global delay 'Hereditary sensory and autonomic neuropathy with deafness and global delay' SubClassOf 'Autosomal recessive hereditary sensory and autonomic neuropathy' 'Hereditary sensory and autonomic neuropathy with deafness and global delay' SubClassOf 'Autosomal recessive hereditary sensory and autonomic neuropathy' http://www.orpha.net/ORDO/Orphanet_210128 Urocanic aciduria 'Urocanic aciduria' SubClassOf 'Disorder of histidine metabolism' 'Urocanic aciduria' SubClassOf 'Neurometabolic disease' 'Urocanic aciduria' SubClassOf 'Disorder of histidine metabolism' 'Urocanic aciduria' SubClassOf 'Cerebral organic aciduria' 'Urocanic aciduria' SubClassOf 'Neurometabolic disease' http://www.orpha.net/ORDO/Orphanet_319171 Distal 17p13.1 microdeletion syndrome 'Distal 17p13.1 microdeletion syndrome' SubClassOf 'Partial monosomy of the short arm of chromosome 17' 'Distal 17p13.1 microdeletion syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Distal 17p13.1 microdeletion syndrome' SubClassOf 'Partial monosomy of the short arm of chromosome 17' 'Distal 17p13.1 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Distal 17p13.1 microdeletion syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Distal 17p13.1 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 http://www.ebi.ac.uk/efo/EFO_0007232 cystoisosporiasis 'cystoisosporiasis' SubClassOf 'parasitic infection' 'cystoisosporiasis' SubClassOf 'coccidiosis' 'cystoisosporiasis' SubClassOf 'parasitic infection' 'cystoisosporiasis' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://www.ebi.ac.uk/efo/EFO_0007231 cysticercosis 'cysticercosis' SubClassOf 'parasitic infection' 'cysticercosis' SubClassOf 'parasitic infection' 'cysticercosis' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'cysticercosis' SubClassOf 'Taeniasis' http://www.ebi.ac.uk/efo/EFO_0007230 cyclosporiasis 'cyclosporiasis' SubClassOf 'parasitic infection' 'cyclosporiasis' SubClassOf 'digestive system disease' 'cyclosporiasis' SubClassOf 'has_disease_location' some ('intestine' or ('part_of' some 'intestine')) 'cyclosporiasis' SubClassOf 'parasitic infection' 'cyclosporiasis' SubClassOf 'coccidiosis' http://www.ebi.ac.uk/efo/EFO_0007236 diffuse idiopathic skeletal hyperostosis 'diffuse idiopathic skeletal hyperostosis' SubClassOf 'bone disease' 'diffuse idiopathic skeletal hyperostosis' SubClassOf 'bone disease' 'diffuse idiopathic skeletal hyperostosis' SubClassOf 'Dysostosis with predominant vertebral and costal involvement' 'diffuse idiopathic skeletal hyperostosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002185 http://www.ebi.ac.uk/efo/EFO_0008560 female infertility 'female infertility' SubClassOf 'female reproductive system disease' 'female infertility' SubClassOf 'infertility' 'female infertility' SubClassOf 'female reproductive system disease' 'female infertility' SubClassOf 'realized_in' some ('disease course' and (('part_of' some 'female reproductive system') or ('has_disease_location' some 'female reproductive system')) and ('has_quality' some 'abnormal')) 'female infertility' SubClassOf 'infertility' http://www.ebi.ac.uk/efo/EFO_0007235 Dictyocaulus infectious disease 'Dictyocaulus infectious disease' SubClassOf 'animal disease' 'Dictyocaulus infectious disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0025082 'Dictyocaulus infectious disease' SubClassOf 'animal disease' 'Dictyocaulus infectious disease' SubClassOf 'trichostrongyloidiasis' http://www.ebi.ac.uk/efo/EFO_0007234 dicrocoeliasis 'dicrocoeliasis' SubClassOf 'parasitic infection' 'dicrocoeliasis' SubClassOf 'has_disease_location' some ('bile duct' or ('part_of' some 'bile duct')) 'dicrocoeliasis' SubClassOf 'parasitic infection' 'dicrocoeliasis' SubClassOf 'Helminthiasis' http://www.ebi.ac.uk/efo/EFO_0007233 diaphragm disease 'diaphragm disease' SubClassOf 'muscular disease' 'diaphragm disease' SubClassOf 'respiratory system disease' 'diaphragm disease' SubClassOf 'Genetic skeletal muscle disease' 'diaphragm disease' SubClassOf 'muscular disease' 'diaphragm disease' SubClassOf 'respiratory system disease' 'diaphragm disease' SubClassOf 'has_disease_location' some ('diaphragm' or ('part_of' some 'diaphragm')) 'diaphragm disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000651 http://www.ebi.ac.uk/efo/EFO_0007239 dirofilariasis 'dirofilariasis' SubClassOf 'skin disease' 'dirofilariasis' SubClassOf 'skin disease' 'dirofilariasis' SubClassOf 'Nematoda infectious disease' 'dirofilariasis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016075 http://www.ebi.ac.uk/efo/EFO_0007238 diphyllobothriasis 'diphyllobothriasis' SubClassOf 'parasitic infection' 'diphyllobothriasis' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'diphyllobothriasis' SubClassOf 'parasitic infection' 'diphyllobothriasis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0042488 http://www.ebi.ac.uk/efo/EFO_0007237 dipetalonemiasis 'dipetalonemiasis' SubClassOf 'skin disease' 'dipetalonemiasis' SubClassOf 'skin disease' 'dipetalonemiasis' SubClassOf 'Nematoda infectious disease' 'dipetalonemiasis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016075 http://www.ebi.ac.uk/efo/EFO_0008568 Sleep Disorder 'Sleep Disorder' SubClassOf 'nervous system disease' http://www.orpha.net/ORDO/Orphanet_210110 Intermediate osteopetrosis 'Intermediate osteopetrosis' SubClassOf 'Osteopetrosis' 'Intermediate osteopetrosis' SubClassOf 'Autosomal recessive malignant osteopetrosis' http://www.orpha.net/ORDO/Orphanet_319189 Familial cortical myoclonus 'Familial cortical myoclonus' SubClassOf 'Primary myoclonus' 'Familial cortical myoclonus' SubClassOf 'Primary myoclonus' http://www.orpha.net/ORDO/Orphanet_139589 Distal hereditary motor neuropathy type 7 'Distal hereditary motor neuropathy type 7' SubClassOf 'Autosomal dominant distal hereditary motor neuropathy' 'Distal hereditary motor neuropathy type 7' SubClassOf 'Autosomal dominant distal hereditary motor neuropathy' http://www.orpha.net/ORDO/Orphanet_210115 Sterile multifocal osteomyelitis with periostitis and pustulosis 'Sterile multifocal osteomyelitis with periostitis and pustulosis' SubClassOf 'Autoinflammatory syndrome with immune deficiency' 'Sterile multifocal osteomyelitis with periostitis and pustulosis' SubClassOf 'Autoinflammatory syndrome with immune deficiency' 'Sterile multifocal osteomyelitis with periostitis and pustulosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017954 'Sterile multifocal osteomyelitis with periostitis and pustulosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017370 http://www.orpha.net/ORDO/Orphanet_139583 X-linked hereditary sensory and autonomic neuropathy with deafness 'X-linked hereditary sensory and autonomic neuropathy with deafness' SubClassOf 'Hereditary sensory and autonomic neuropathy' 'X-linked hereditary sensory and autonomic neuropathy with deafness' SubClassOf 'Hereditary sensory and autonomic neuropathy' 'X-linked hereditary sensory and autonomic neuropathy with deafness' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021944 'X-linked hereditary sensory and autonomic neuropathy with deafness' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019586 http://www.orpha.net/ORDO/Orphanet_319182 Wiedemann-Steiner syndrome 'Wiedemann-Steiner syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Wiedemann-Steiner syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Wiedemann-Steiner syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Wiedemann-Steiner syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 http://www.ebi.ac.uk/efo/EFO_0007265 eumycotic mycetoma 'eumycotic mycetoma' SubClassOf 'skin disease' 'eumycotic mycetoma' SubClassOf 'skin disease' 'eumycotic mycetoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002040 'eumycotic mycetoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024294 http://www.ebi.ac.uk/efo/EFO_0008597 anti-p200 pemphigoid 'anti-p200 pemphigoid' SubClassOf 'autoimmune bullous skin disease' 'anti-p200 pemphigoid' SubClassOf 'autoimmune bullous skin disease' http://www.ebi.ac.uk/efo/EFO_0007264 ethmoid sinusitis 'ethmoid sinusitis' SubClassOf 'sinusitis' 'ethmoid sinusitis' SubClassOf 'sinusitis' 'ethmoid sinusitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023369 http://www.ebi.ac.uk/efo/EFO_0008598 autoimmune bullous skin disease 'autoimmune bullous skin disease' SubClassOf 'bullous skin disease' 'autoimmune bullous skin disease' SubClassOf 'autoimmune disease' 'autoimmune bullous skin disease' SubClassOf 'bullous skin disease' 'autoimmune bullous skin disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017841 'autoimmune bullous skin disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002406 'autoimmune bullous skin disease' SubClassOf 'vesiculobullous skin disease' 'autoimmune bullous skin disease' SubClassOf 'autoimmune disease' http://www.ebi.ac.uk/efo/EFO_0007263 equine infectious anemia 'equine infectious anemia' SubClassOf 'viral disease' 'equine infectious anemia' SubClassOf 'viral disease' http://www.ebi.ac.uk/efo/EFO_0007262 epilepsy with generalized tonic-clonic seizures 'epilepsy with generalized tonic-clonic seizures' SubClassOf 'epilepsy' 'epilepsy with generalized tonic-clonic seizures' SubClassOf 'epilepsy' 'epilepsy with generalized tonic-clonic seizures' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100030 'epilepsy with generalized tonic-clonic seizures' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000415 http://www.ebi.ac.uk/efo/EFO_0007269 Felty's syndrome 'Felty's syndrome' SubClassOf 'rheumatoid arthritis' 'Felty's syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015822 'Felty's syndrome' SubClassOf 'rheumatoid arthritis' 'Felty's syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 http://www.ebi.ac.uk/efo/EFO_0008593 low density lipoprotein particle size measurement 'low density lipoprotein particle size measurement' SubClassOf 'lipoprotein measurement' 'low density lipoprotein particle size measurement' SubClassOf 'is_about' some 'LDL cholesterol' 'low density lipoprotein particle size measurement' SubClassOf 'is_about' some 'cholesterol homeostasis' 'low density lipoprotein particle size measurement' SubClassOf 'lipoprotein measurement' http://www.ebi.ac.uk/efo/EFO_0007268 fascioloidiasis 'fascioloidiasis' SubClassOf 'parasitic infection' 'fascioloidiasis' SubClassOf 'Helminthiasis' 'fascioloidiasis' SubClassOf 'parasitic infection' 'fascioloidiasis' SubClassOf 'has_disease_location' some ('liver' or ('part_of' some 'liver')) http://www.ebi.ac.uk/efo/EFO_0008594 very low density lipoprotein particle size measurement 'very low density lipoprotein particle size measurement' SubClassOf 'lipoprotein measurement' 'very low density lipoprotein particle size measurement' SubClassOf 'is_about' some 'NHDL cholesterol' 'very low density lipoprotein particle size measurement' SubClassOf 'lipoprotein measurement' 'very low density lipoprotein particle size measurement' SubClassOf 'is_about' some 'cholesterol homeostasis' http://www.ebi.ac.uk/efo/EFO_0007267 obsolete_factor VIII deficiency 'obsolete_factor VIII deficiency' SubClassOf 'obsolete class' 'obsolete_factor VIII deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0008595 intermediate density lipoprotein measurement 'intermediate density lipoprotein measurement' SubClassOf 'lipoprotein measurement' 'intermediate density lipoprotein measurement' SubClassOf 'is_about' some 'cholesterol homeostasis' 'intermediate density lipoprotein measurement' SubClassOf 'is_about' some 'NHDL cholesterol' 'intermediate density lipoprotein measurement' SubClassOf 'lipoprotein measurement' http://www.ebi.ac.uk/efo/EFO_0007266 eunuchism 'eunuchism' SubClassOf 'reproductive system disease' 'eunuchism' SubClassOf 'has_disease_location' some ('male reproductive system' or ('part_of' some 'male reproductive system')) 'eunuchism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002146 http://www.ebi.ac.uk/efo/EFO_0008596 chylomicron measurement 'chylomicron measurement' SubClassOf 'lipoprotein measurement' 'chylomicron measurement' SubClassOf 'is_about' some 'cholesterol homeostasis' 'chylomicron measurement' SubClassOf 'is_about' some 'lipoprotein' 'chylomicron measurement' SubClassOf 'lipoprotein measurement' http://purl.obolibrary.org/obo/CHEBI_46081 fluconazole 'fluconazole' SubClassOf 'has_role' some 'antifungal drug' http://purl.obolibrary.org/obo/PO_0006081 primary root apical meristem 'primary root apical meristem' SubClassOf 'part_of' some 'root tip' http://www.orpha.net/ORDO/Orphanet_210141 Inherited congenital spastic tetraplegia 'Inherited congenital spastic tetraplegia' SubClassOf 'Rare genetic neurological disorder' 'Inherited congenital spastic tetraplegia' SubClassOf 'Rare genetic neurological disorder' 'Inherited congenital spastic tetraplegia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000396 http://www.orpha.net/ORDO/Orphanet_210144 Lethal polymalformative syndrome, Boissel type 'Lethal polymalformative syndrome, Boissel type' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome' 'Lethal polymalformative syndrome, Boissel type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043009 http://www.ebi.ac.uk/efo/EFO_0007272 filarial elephantiasis 'filarial elephantiasis' SubClassOf 'skin disease' 'filarial elephantiasis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001812 'filarial elephantiasis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016075 'filarial elephantiasis' SubClassOf 'skin disease' 'filarial elephantiasis' SubClassOf 'disease has feature' some 'elephantiasis' 'filarial elephantiasis' SubClassOf 'elephantiasis' http://www.ebi.ac.uk/efo/EFO_0007271 fibroepithelial neoplasm 'fibroepithelial neoplasm' SubClassOf 'neoplasm' 'fibroepithelial neoplasm' SubClassOf 'neoplasm' 'fibroepithelial neoplasm' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021043 http://www.ebi.ac.uk/efo/EFO_0007270 femoral cancer 'femoral cancer' SubClassOf 'bone neoplasm' 'femoral cancer' SubClassOf 'bone neoplasm' http://www.ebi.ac.uk/efo/EFO_0007254 enterobiasis 'enterobiasis' SubClassOf 'parasitic infection' 'enterobiasis' SubClassOf 'Nematoda infectious disease' 'enterobiasis' SubClassOf 'has_disease_location' some ('anal region' or ('part_of' some 'anal region')) 'enterobiasis' SubClassOf 'parasitic infection' 'enterobiasis' SubClassOf 'disease has feature' some http://purl.obolibrary.org/obo/MONDO_0002203 http://www.ebi.ac.uk/efo/EFO_0007253 Enoplea infectious disease 'Enoplea infectious disease' SubClassOf 'parasitic infection' 'Enoplea infectious disease' SubClassOf 'Nematoda infectious disease' 'Enoplea infectious disease' SubClassOf 'parasitic infection' http://www.ebi.ac.uk/efo/EFO_0008587 gender identity disorder 'gender identity disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002025 http://www.ebi.ac.uk/efo/EFO_0008588 peritonitis 'peritonitis' SubClassOf 'digestive system disease' 'peritonitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043786 'peritonitis' SubClassOf 'has_disease_location' some ('peritoneum' or ('part_of' some 'peritoneum')) http://www.ebi.ac.uk/efo/EFO_0007252 endodermal sinus tumor 'endodermal sinus tumor' SubClassOf 'germ cell tumor' 'endodermal sinus tumor' SubClassOf 'germ cell tumor' 'endodermal sinus tumor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003578 http://www.ebi.ac.uk/efo/EFO_0007251 endocardial fibroelastosis 'endocardial fibroelastosis' SubClassOf 'heart disease' 'endocardial fibroelastosis' SubClassOf 'cardiovascular disease' 'endocardial fibroelastosis' SubClassOf 'Familial dilated cardiomyopathy' 'endocardial fibroelastosis' SubClassOf 'Non-familial restrictive cardiomyopathy' 'endocardial fibroelastosis' SubClassOf 'Familial restrictive cardiomyopathy' 'endocardial fibroelastosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016338 'endocardial fibroelastosis' SubClassOf 'has_disease_location' some ('endocardium' or ('part_of' some 'endocardium')) 'endocardial fibroelastosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000470 http://www.ebi.ac.uk/efo/EFO_0008589 esterified cholesterol measurement 'esterified cholesterol measurement' SubClassOf 'lipoprotein measurement' 'esterified cholesterol measurement' SubClassOf 'lipoprotein measurement' 'esterified cholesterol measurement' SubClassOf 'is_about' some 'cholesterol homeostasis' 'esterified cholesterol measurement' SubClassOf 'is_about' some 'cholesterol ester' http://www.ebi.ac.uk/efo/EFO_0007258 ephemeral fever 'ephemeral fever' SubClassOf 'animal disease' 'ephemeral fever' SubClassOf 'animal disease' http://www.ebi.ac.uk/efo/EFO_0008582 thrombin activatable fibrinolysis inhibitor activation peptide measurement 'thrombin activatable fibrinolysis inhibitor activation peptide measurement' SubClassOf 'is_about' some 'blood plasma' 'thrombin activatable fibrinolysis inhibitor activation peptide measurement' SubClassOf 'is_about' some 'blood coagulation' http://www.ebi.ac.uk/efo/EFO_0007257 eosinophilic pneumonia 'eosinophilic pneumonia' SubClassOf 'pneumonia' 'eosinophilic pneumonia' SubClassOf 'pneumonia' http://www.ebi.ac.uk/efo/EFO_0008583 acute myocardial infarction 'acute myocardial infarction' SubClassOf 'myocardial infarction' 'acute myocardial infarction' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020683 'acute myocardial infarction' SubClassOf 'myocardial infarction' http://www.ebi.ac.uk/efo/EFO_0007256 enzootic pneumonia of calves 'enzootic pneumonia of calves' SubClassOf 'pneumonia' 'enzootic pneumonia of calves' SubClassOf 'pneumonia' 'enzootic pneumonia of calves' SubClassOf 'animal disease' http://www.ebi.ac.uk/efo/EFO_0007255 Enterovirus infectious disease 'Enterovirus infectious disease' SubClassOf 'viral disease' 'Enterovirus infectious disease' SubClassOf 'Picornaviridae infectious disease' 'Enterovirus infectious disease' SubClassOf 'viral disease' 'Enterovirus infectious disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043424 http://www.ebi.ac.uk/efo/EFO_0007259 epidemic pleurodynia 'epidemic pleurodynia' SubClassOf 'viral disease' 'epidemic pleurodynia' SubClassOf 'Enterovirus infectious disease' 'epidemic pleurodynia' SubClassOf 'viral disease' http://www.orpha.net/ORDO/Orphanet_210133 Leukonychia totalis - acanthosis-nigricans-like lesions - abnormal hair 'Leukonychia totalis - acanthosis-nigricans-like lesions - abnormal hair' SubClassOf 'Syndromic nail anomaly' 'Leukonychia totalis - acanthosis-nigricans-like lesions - abnormal hair' SubClassOf 'Syndromic nail anomaly' 'Leukonychia totalis - acanthosis-nigricans-like lesions - abnormal hair' SubClassOf 'Genetic hyperpigmentation of the skin' http://www.orpha.net/ORDO/Orphanet_48431 Congenital cataracts - facial dysmorphism - neuropathy 'Congenital cataracts - facial dysmorphism - neuropathy' SubClassOf 'Autosomal recessive hereditary demyelinating motor and sensory neuropathy' 'Congenital cataracts - facial dysmorphism - neuropathy' SubClassOf 'Syndromic developmental defect of the eye' 'Congenital cataracts - facial dysmorphism - neuropathy' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Congenital cataracts - facial dysmorphism - neuropathy' SubClassOf 'Syndromic epicanthus' 'Congenital cataracts - facial dysmorphism - neuropathy' SubClassOf 'Cerebellar ataxia with peripheral neuropathy' 'Congenital cataracts - facial dysmorphism - neuropathy' SubClassOf 'Cerebral disease with cataract' 'Congenital cataracts - facial dysmorphism - neuropathy' SubClassOf 'Autosomal recessive degenerative and progressive cerebellar ataxia' 'Congenital cataracts - facial dysmorphism - neuropathy' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'Congenital cataracts - facial dysmorphism - neuropathy' SubClassOf 'Autosomal recessive hereditary demyelinating motor and sensory neuropathy' 'Congenital cataracts - facial dysmorphism - neuropathy' SubClassOf 'Syndromic developmental defect of the eye' 'Congenital cataracts - facial dysmorphism - neuropathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Congenital cataracts - facial dysmorphism - neuropathy' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Congenital cataracts - facial dysmorphism - neuropathy' SubClassOf 'Partial duplication of the short arm of chromosome 16' 'Congenital cataracts - facial dysmorphism - neuropathy' SubClassOf 'Cerebellar ataxia with peripheral neuropathy' 'Congenital cataracts - facial dysmorphism - neuropathy' SubClassOf 'Syndromic epicanthus' 'Congenital cataracts - facial dysmorphism - neuropathy' SubClassOf 'Autosomal recessive degenerative and progressive cerebellar ataxia' 'Congenital cataracts - facial dysmorphism - neuropathy' SubClassOf 'Cerebral disease with cataract' 'Congenital cataracts - facial dysmorphism - neuropathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000941 http://www.ebi.ac.uk/efo/EFO_0008590 Status Asthmaticus 'Status Asthmaticus' SubClassOf 'asthma' 'Status Asthmaticus' SubClassOf 'asthma' http://www.ebi.ac.uk/efo/EFO_0008591 free cholesterol measurement 'free cholesterol measurement' SubClassOf 'lipoprotein measurement' 'free cholesterol measurement' SubClassOf 'lipoprotein measurement' 'free cholesterol measurement' SubClassOf 'is_about' some 'cholesterol' 'free cholesterol measurement' SubClassOf 'is_about' some 'cholesterol homeostasis' http://www.ebi.ac.uk/efo/EFO_0008592 high density lipoprotein particle size measurement 'high density lipoprotein particle size measurement' SubClassOf 'lipoprotein measurement' 'high density lipoprotein particle size measurement' SubClassOf 'is_about' some 'cholesterol homeostasis' 'high density lipoprotein particle size measurement' SubClassOf 'lipoprotein measurement' 'high density lipoprotein particle size measurement' SubClassOf 'is_about' some 'HDL cholesterol' http://www.ebi.ac.uk/efo/EFO_0007261 epiglottitis 'epiglottitis' SubClassOf 'respiratory system disease' 'epiglottitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004867 'epiglottitis' SubClassOf 'has_disease_location' some ('respiratory system' or ('part_of' some 'respiratory system')) 'epiglottitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020592 'epiglottitis' SubClassOf 'respiratory system disease' 'epiglottitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021166 http://www.ebi.ac.uk/efo/EFO_0007260 epidural abscess 'epidural abscess' SubClassOf 'Central Nervous System Neoplasm' 'epidural abscess' SubClassOf 'Central Nervous System Neoplasm' 'epidural abscess' SubClassOf 'has_disease_location' some ('nervous system' or ('part_of' some 'nervous system')) http://www.orpha.net/ORDO/Orphanet_319160 Congenital myopathy with internal nuclei and atypical cores 'Congenital myopathy with internal nuclei and atypical cores' SubClassOf 'Congenital myopathy with cores' 'Congenital myopathy with internal nuclei and atypical cores' SubClassOf 'Congenital myopathy with cores' 'Congenital myopathy with internal nuclei and atypical cores' SubClassOf 'Centronuclear myopathy' http://www.ebi.ac.uk/efo/EFO_0007287 glucosephosphate dehydrogenase deficiency 'glucosephosphate dehydrogenase deficiency' SubClassOf 'Disorder of carbohydrate metabolism' 'glucosephosphate dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044976 'glucosephosphate dehydrogenase deficiency' SubClassOf 'Disorder of carbohydrate metabolism' http://www.orpha.net/ORDO/Orphanet_3289 Taurodontism 'Taurodontism' SubClassOf 'Rare odontal or periodontal disorder' 'Taurodontism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018488 'Taurodontism' SubClassOf 'Rare odontal or periodontal disorder' 'Taurodontism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003847 http://www.ebi.ac.uk/efo/EFO_0007286 glanders 'glanders' SubClassOf 'bacterial disease' 'glanders' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043953 'glanders' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000314 'glanders' SubClassOf 'bacterial disease' http://www.orpha.net/ORDO/Orphanet_295081 Fibular hemimelia, unilateral 'Fibular hemimelia, unilateral' SubClassOf 'Fibular hemimelia' 'Fibular hemimelia, unilateral' SubClassOf 'Fibular hemimelia' http://www.ebi.ac.uk/efo/EFO_0007285 Gerstmann syndrome 'Gerstmann syndrome' SubClassOf 'nervous system disease' 'Gerstmann syndrome' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Gerstmann syndrome' SubClassOf 'nervous system disease' http://www.ebi.ac.uk/efo/EFO_0007284 geotrichosis 'geotrichosis' SubClassOf 'immune system disease' 'geotrichosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002312 'geotrichosis' SubClassOf 'immune system disease' http://www.orpha.net/ORDO/Orphanet_3286 Catecholaminergic polymorphic ventricular tachycardia 'Catecholaminergic polymorphic ventricular tachycardia' SubClassOf 'Genetic cardiac rhythm disease' 'Catecholaminergic polymorphic ventricular tachycardia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0008648 'Catecholaminergic polymorphic ventricular tachycardia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020575 http://www.orpha.net/ORDO/Orphanet_295085 Congenital absence of upper arm and forearm with hand present, unilateral 'Congenital absence of upper arm and forearm with hand present, unilateral' SubClassOf 'Congenital absence of upper arm and forearm with hand present' 'Congenital absence of upper arm and forearm with hand present, unilateral' SubClassOf 'Congenital absence of upper arm and forearm with hand present' http://www.ebi.ac.uk/efo/EFO_0007289 gnathomiasis 'gnathomiasis' SubClassOf 'parasitic infection' 'gnathomiasis' SubClassOf 'Helminthiasis' 'gnathomiasis' SubClassOf 'parasitic infection' http://www.orpha.net/ORDO/Orphanet_3283 His bundle tachycardia 'His bundle tachycardia' SubClassOf 'Genetic cardiac rhythm disease' 'His bundle tachycardia' SubClassOf 'Genetic cardiac rhythm disease' http://www.ebi.ac.uk/efo/EFO_0007288 obsolete_glycogen storage disease I 'obsolete_glycogen storage disease I' SubClassOf 'obsolete class' 'obsolete_glycogen storage disease I' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_295083 Fibular hemimelia, bilateral 'Fibular hemimelia, bilateral' SubClassOf 'Fibular hemimelia' 'Fibular hemimelia, bilateral' SubClassOf 'Fibular hemimelia' http://www.orpha.net/ORDO/Orphanet_59135 Laing early-onset distal myopathy 'Laing early-onset distal myopathy' SubClassOf 'Autosomal dominant distal myopathy' 'Laing early-onset distal myopathy' SubClassOf 'Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)' 'Laing early-onset distal myopathy' SubClassOf 'Distal myopathy, Welander type' 'Laing early-onset distal myopathy' SubClassOf 'Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)' http://www.orpha.net/ORDO/Orphanet_295089 Congenital absence of thigh and lower leg with foot present, unilateral 'Congenital absence of thigh and lower leg with foot present, unilateral' SubClassOf 'Congenital absence of thigh and lower leg with foot present' 'Congenital absence of thigh and lower leg with foot present, unilateral' SubClassOf 'Congenital absence of thigh and lower leg with foot present' http://www.orpha.net/ORDO/Orphanet_295087 Congenital absence of upper arm and forearm with hand present, bilateral 'Congenital absence of upper arm and forearm with hand present, bilateral' SubClassOf 'Congenital absence of upper arm and forearm with hand present' 'Congenital absence of upper arm and forearm with hand present, bilateral' SubClassOf 'Congenital absence of upper arm and forearm with hand present' http://www.orpha.net/ORDO/Orphanet_139536 Distal hereditary motor neuropathy type 5 'Distal hereditary motor neuropathy type 5' SubClassOf 'Autosomal dominant distal hereditary motor neuropathy' 'Distal hereditary motor neuropathy type 5' SubClassOf 'Autosomal dominant distal hereditary motor neuropathy' http://purl.obolibrary.org/obo/CHEBI_61695 L-prolylglycine 'L-prolylglycine' SubClassOf 'amide' 'L-prolylglycine' SubClassOf 'amide' http://www.ebi.ac.uk/efo/EFO_0007290 Goodpasture syndrome 'Goodpasture syndrome' SubClassOf 'type II hypersensitivity reaction disease' 'Goodpasture syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015490 'Goodpasture syndrome' SubClassOf 'type II hypersensitivity reaction disease' 'Goodpasture syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017035 'Goodpasture syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019724 'Goodpasture syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0030703 http://www.orpha.net/ORDO/Orphanet_47159 Proximal renal tubular acidosis 'Proximal renal tubular acidosis' SubClassOf 'Primary renal tubular acidosis' 'Proximal renal tubular acidosis' SubClassOf 'Primary renal tubular acidosis' 'Proximal renal tubular acidosis' SubClassOf 'Inborn errors of metabolism' 'Proximal renal tubular acidosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001909 http://www.ebi.ac.uk/efo/EFO_0007294 hand, foot and mouth disease 'hand, foot and mouth disease' SubClassOf 'viral disease' 'hand, foot and mouth disease' SubClassOf 'skin disease' 'hand, foot and mouth disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024294 'hand, foot and mouth disease' SubClassOf 'viral disease' 'hand, foot and mouth disease' SubClassOf 'has_disease_location' some ('zone of skin' or ('part_of' some 'zone of skin')) 'hand, foot and mouth disease' SubClassOf 'Enterovirus infectious disease' http://www.ebi.ac.uk/efo/EFO_0007293 haemonchiasis 'haemonchiasis' SubClassOf 'parasitic infection' 'haemonchiasis' SubClassOf 'parasitic infection' 'haemonchiasis' SubClassOf 'trichostrongyloidiasis' http://www.ebi.ac.uk/efo/EFO_0007292 Guillain-Barre syndrome 'Guillain-Barre syndrome' SubClassOf 'autoimmune disease' 'Guillain-Barre syndrome' SubClassOf 'autoimmune disease' 'Guillain-Barre syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015916 'Guillain-Barre syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Guillain-Barre syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016137 'Guillain-Barre syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000774 http://www.ebi.ac.uk/efo/EFO_0007291 granuloma inguinale 'granuloma inguinale' SubClassOf 'bacterial disease' 'granuloma inguinale' SubClassOf 'bacterial disease' 'granuloma inguinale' SubClassOf http://purl.obolibrary.org/obo/MONDO_0030603 'granuloma inguinale' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000314 'granuloma inguinale' SubClassOf 'bacterial sexually transmitted disease' http://www.ebi.ac.uk/efo/EFO_0007276 follicular dendritic cell sarcoma 'follicular dendritic cell sarcoma' SubClassOf 'sarcoma' 'follicular dendritic cell sarcoma' SubClassOf 'sarcoma' 'follicular dendritic cell sarcoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004380 'follicular dendritic cell sarcoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020082 'follicular dendritic cell sarcoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017345 'follicular dendritic cell sarcoma' SubClassOf 'has_disease_location' some 'dendritic cell' http://www.orpha.net/ORDO/Orphanet_295093 Congenital absence of both forearm and hand, unilateral 'Congenital absence of both forearm and hand, unilateral' SubClassOf 'Congenital absence of both forearm and hand' 'Congenital absence of both forearm and hand, unilateral' SubClassOf 'Congenital absence of both forearm and hand' http://www.ebi.ac.uk/efo/EFO_0007275 focal epithelial hyperplasia 'focal epithelial hyperplasia' SubClassOf 'viral disease' 'focal epithelial hyperplasia' SubClassOf 'has_disease_location' some ('mouth' or ('part_of' some 'mouth')) 'focal epithelial hyperplasia' SubClassOf 'viral disease' 'focal epithelial hyperplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003847 'focal epithelial hyperplasia' SubClassOf 'hyperplasia' http://www.ebi.ac.uk/efo/EFO_0007274 Flaviviridae infectious disease 'Flaviviridae infectious disease' SubClassOf 'viral disease' 'Flaviviridae infectious disease' SubClassOf 'viral disease' http://www.orpha.net/ORDO/Orphanet_295091 Congenital absence of thigh and lower leg with foot present, bilateral 'Congenital absence of thigh and lower leg with foot present, bilateral' SubClassOf 'Congenital absence of thigh and lower leg with foot present' 'Congenital absence of thigh and lower leg with foot present, bilateral' SubClassOf 'Congenital absence of thigh and lower leg with foot present' http://www.ebi.ac.uk/efo/EFO_0007273 Filoviridae infectious disease 'Filoviridae infectious disease' SubClassOf 'viral disease' 'Filoviridae infectious disease' SubClassOf 'Mononegavirales infectious disease' 'Filoviridae infectious disease' SubClassOf 'viral disease' http://www.orpha.net/ORDO/Orphanet_295097 Congenital absence of both lower leg and foot, unilateral 'Congenital absence of both lower leg and foot, unilateral' SubClassOf 'Congenital absence of both lower leg and foot' 'Congenital absence of both lower leg and foot, unilateral' SubClassOf 'Congenital absence of both lower leg and foot' http://www.ebi.ac.uk/efo/EFO_0007279 gas gangrene 'gas gangrene' SubClassOf 'bacterial disease' 'gas gangrene' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024295 'gas gangrene' SubClassOf 'bacterial disease' 'gas gangrene' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000315 'gas gangrene' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023149 'gas gangrene' SubClassOf 'bacteriemia' 'gas gangrene' SubClassOf 'vesiculobullous skin disease' http://www.ebi.ac.uk/efo/EFO_0007278 fungal lung infectious disease 'fungal lung infectious disease' SubClassOf 'lung disease' 'fungal lung infectious disease' SubClassOf 'lung disease' 'fungal lung infectious disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024355 'fungal lung infectious disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002041 http://www.orpha.net/ORDO/Orphanet_295095 Congenital absence of both forearm and hand, bilateral 'Congenital absence of both forearm and hand, bilateral' SubClassOf 'Congenital absence of both forearm and hand' 'Congenital absence of both forearm and hand, bilateral' SubClassOf 'Congenital absence of both forearm and hand' http://www.orpha.net/ORDO/Orphanet_3294 Extensor tendons of finger anomalies 'Extensor tendons of finger anomalies' SubClassOf 'Genetic syndrome with limb malformations as a major feature' 'Extensor tendons of finger anomalies' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Extensor tendons of finger anomalies' SubClassOf 'Genetic syndrome with limb malformations as a major feature' http://www.ebi.ac.uk/efo/EFO_0007277 foot and mouth disease 'foot and mouth disease' SubClassOf 'animal disease' 'foot and mouth disease' SubClassOf 'animal disease' http://www.orpha.net/ORDO/Orphanet_3293 Telecanthus - hypertelorism - strabismus - pes cavus 'Telecanthus - hypertelorism - strabismus - pes cavus' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Telecanthus - hypertelorism - strabismus - pes cavus' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_295099 Congenital absence of both lower leg and foot, bilateral 'Congenital absence of both lower leg and foot, bilateral' SubClassOf 'Congenital absence of both lower leg and foot' 'Congenital absence of both lower leg and foot, bilateral' SubClassOf 'Congenital absence of both lower leg and foot' http://www.orpha.net/ORDO/Orphanet_165805 Familial mesial temporal lobe epilepsy with febrile seizures 'Familial mesial temporal lobe epilepsy with febrile seizures' SubClassOf 'Familial partial epilepsy' 'Familial mesial temporal lobe epilepsy with febrile seizures' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000032 'Familial mesial temporal lobe epilepsy with febrile seizures' SubClassOf 'Familial partial epilepsy' http://www.orpha.net/ORDO/Orphanet_139547 Distal spinal muscular atrophy type 3 'Distal spinal muscular atrophy type 3' SubClassOf 'Autosomal recessive distal hereditary motor neuropathy' 'Distal spinal muscular atrophy type 3' SubClassOf 'spinal muscular atrophy' 'Distal spinal muscular atrophy type 3' SubClassOf 'Autosomal recessive distal hereditary motor neuropathy' http://www.orpha.net/ORDO/Orphanet_98755 Spinocerebellar ataxia type 1 'Spinocerebellar ataxia type 1' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' 'Spinocerebellar ataxia type 1' SubClassOf 'Huntington disease-like syndrome' 'Spinocerebellar ataxia type 1' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' 'Spinocerebellar ataxia type 1' SubClassOf 'Huntington disease-like syndrome' http://www.orpha.net/ORDO/Orphanet_98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 'Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15' SubClassOf 'Prader-Willi syndrome' 'Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15' SubClassOf 'Uniparental disomy of maternal origin' 'Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15' SubClassOf 'Prader-Willi syndrome' 'Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15' SubClassOf 'Uniparental disomy of maternal origin' http://www.orpha.net/ORDO/Orphanet_3292 Tel Hashomer camptodactyly syndrome 'Tel Hashomer camptodactyly syndrome' SubClassOf 'Genetic skeletal muscle disease' 'Tel Hashomer camptodactyly syndrome' SubClassOf 'Genetic skeletal muscle disease' http://www.orpha.net/ORDO/Orphanet_3291 Teebi-Shaltout syndrome 'Teebi-Shaltout syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Teebi-Shaltout syndrome' SubClassOf 'Dysostosis with predominant craniofacial involvement' 'Teebi-Shaltout syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Teebi-Shaltout syndrome' SubClassOf 'Dysostosis with predominant craniofacial involvement' http://www.ebi.ac.uk/efo/EFO_0007283 geographic tongue 'geographic tongue' SubClassOf 'head and neck disorder' 'geographic tongue' SubClassOf 'head and neck disorder' 'geographic tongue' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001989 'geographic tongue' SubClassOf 'has_disease_location' some ('tongue' or ('part_of' some 'tongue')) 'geographic tongue' SubClassOf 'participates_in' some 'inflammatory response' http://www.ebi.ac.uk/efo/EFO_0007282 genital herpes 'genital herpes' SubClassOf 'viral disease' 'genital herpes' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004609 'genital herpes' SubClassOf 'viral disease' 'genital herpes' SubClassOf 'male reproductive system disease' 'genital herpes' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021682 http://www.ebi.ac.uk/efo/EFO_0007281 geniculate herpes zoster 'geniculate herpes zoster' SubClassOf 'Herpes Zoster' 'geniculate herpes zoster' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021666 'geniculate herpes zoster' SubClassOf 'Herpes Zoster' http://www.ebi.ac.uk/efo/EFO_0007280 gastrointestinal tuberculosis 'gastrointestinal tuberculosis' SubClassOf 'digestive system disease' 'gastrointestinal tuberculosis' SubClassOf 'Tuberculosis' 'gastrointestinal tuberculosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021166 'gastrointestinal tuberculosis' SubClassOf 'Tuberculosis' 'gastrointestinal tuberculosis' SubClassOf 'has_disease_location' some 'digestive system' 'gastrointestinal tuberculosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043424 http://purl.obolibrary.org/obo/CHEBI_35391 aspartate(1-) 'aspartate(1-)' SubClassOf 'chemical entity' 'aspartate(1-)' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_35397 tartrate(1-) 'tartrate(1-)' SubClassOf 'chemical entity' 'tartrate(1-)' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_98756 Spinocerebellar ataxia type 2 'Spinocerebellar ataxia type 2' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' 'Spinocerebellar ataxia type 2' SubClassOf 'Huntington disease-like syndrome' 'Spinocerebellar ataxia type 2' SubClassOf 'familial amyotrophic lateral sclerosis' 'Spinocerebellar ataxia type 2' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' 'Spinocerebellar ataxia type 2' SubClassOf 'Huntington disease-like syndrome' http://www.orpha.net/ORDO/Orphanet_98759 Spinocerebellar ataxia type 17 'Spinocerebellar ataxia type 17' SubClassOf 'Miscellaneous movement disorder due to genetic neurodegenerative disease' 'Spinocerebellar ataxia type 17' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' 'Spinocerebellar ataxia type 17' SubClassOf 'Huntington disease-like syndrome' 'Spinocerebellar ataxia type 17' SubClassOf 'Miscellaneous movement disorder due to genetic neurodegenerative disease' 'Spinocerebellar ataxia type 17' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' 'Spinocerebellar ataxia type 17' SubClassOf 'Huntington disease-like syndrome' http://www.orpha.net/ORDO/Orphanet_98758 Spinocerebellar ataxia type 6 'Spinocerebellar ataxia type 6' SubClassOf 'Autosomal dominant cerebellar ataxia type 3' 'Spinocerebellar ataxia type 6' SubClassOf 'Autosomal dominant cerebellar ataxia type 3' http://www.orpha.net/ORDO/Orphanet_98760 Spinocerebellar ataxia type 8 'Spinocerebellar ataxia type 8' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' 'Spinocerebellar ataxia type 8' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' http://www.orpha.net/ORDO/Orphanet_98762 Spinocerebellar ataxia type 12 'Spinocerebellar ataxia type 12' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' 'Spinocerebellar ataxia type 12' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' http://www.orpha.net/ORDO/Orphanet_96100 Distal trisomy 8q 'Distal trisomy 8q' SubClassOf 'Partial duplication of the long arm of chromosome 8' 'Distal trisomy 8q' SubClassOf 'Partial duplication of the long arm of chromosome 8' http://www.orpha.net/ORDO/Orphanet_98761 Spinocerebellar ataxia type 10 'Spinocerebellar ataxia type 10' SubClassOf 'Autosomal dominant cerebellar ataxia type 4' 'Spinocerebellar ataxia type 10' SubClassOf 'Autosomal dominant cerebellar ataxia type 4' http://www.orpha.net/ORDO/Orphanet_96101 Distal trisomy 9q 'Distal trisomy 9q' SubClassOf 'Partial trisomy of the long arm of chromosome 9' 'Distal trisomy 9q' SubClassOf 'Partial trisomy of the long arm of chromosome 9' http://www.orpha.net/ORDO/Orphanet_98764 Spinocerebellar ataxia type 27 'Spinocerebellar ataxia type 27' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' 'Spinocerebellar ataxia type 27' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' http://www.orpha.net/ORDO/Orphanet_96102 Distal trisomy 10q 'Distal trisomy 10q' SubClassOf 'Partial duplication of the long arm of chromosome 10' 'Distal trisomy 10q' SubClassOf 'Partial duplication of the long arm of chromosome 10' 'Distal trisomy 10q' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020226 http://www.orpha.net/ORDO/Orphanet_98763 Spinocerebellar ataxia type 14 'Spinocerebellar ataxia type 14' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' 'Spinocerebellar ataxia type 14' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' http://www.orpha.net/ORDO/Orphanet_96103 Distal trisomy 11q 'Distal trisomy 11q' SubClassOf 'Partial duplication of the long arm of chromosome 11' 'Distal trisomy 11q' SubClassOf 'Partial duplication of the long arm of chromosome 11' http://www.orpha.net/ORDO/Orphanet_98766 Spinocerebellar ataxia type 5 'Spinocerebellar ataxia type 5' SubClassOf 'Autosomal dominant cerebellar ataxia type 3' 'Spinocerebellar ataxia type 5' SubClassOf 'Autosomal dominant cerebellar ataxia type 3' http://www.orpha.net/ORDO/Orphanet_98765 Spinocerebellar ataxia type 4 'Spinocerebellar ataxia type 4' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' 'Spinocerebellar ataxia type 4' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' http://www.orpha.net/ORDO/Orphanet_139557 X-linked distal spinal muscular atrophy 'X-linked distal spinal muscular atrophy' SubClassOf 'Distal hereditary motor neuropathy' http://www.ebi.ac.uk/efo/EFO_0007298 hemopericardium 'hemopericardium' SubClassOf 'heart disease' 'hemopericardium' SubClassOf 'has_disease_location' some ('pericardium' or ('part_of' some 'pericardium')) 'hemopericardium' SubClassOf 'heart disease' 'hemopericardium' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001370 http://www.ebi.ac.uk/efo/EFO_0007297 HELLP syndrome 'HELLP syndrome' SubClassOf 'preeclampsia' 'HELLP syndrome' SubClassOf 'preeclampsia' 'HELLP syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016631 'HELLP syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'HELLP syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001641 http://www.orpha.net/ORDO/Orphanet_35173 X-linked dominant chondrodysplasia punctata 'X-linked dominant chondrodysplasia punctata' SubClassOf 'Sterol biosynthesis disorder' 'X-linked dominant chondrodysplasia punctata' SubClassOf 'Musculoskeletal disease with cataract' 'X-linked dominant chondrodysplasia punctata' SubClassOf 'Non-rhizomelic chondrodysplasia punctata' 'X-linked dominant chondrodysplasia punctata' SubClassOf 'Rare syndromic dyslipidemia' 'X-linked dominant chondrodysplasia punctata' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'X-linked dominant chondrodysplasia punctata' SubClassOf 'Sterol biosynthesis disorder' 'X-linked dominant chondrodysplasia punctata' SubClassOf 'Musculoskeletal disease with cataract' 'X-linked dominant chondrodysplasia punctata' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 'X-linked dominant chondrodysplasia punctata' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'X-linked dominant chondrodysplasia punctata' SubClassOf 'Non-rhizomelic chondrodysplasia punctata' 'X-linked dominant chondrodysplasia punctata' SubClassOf 'Rare genetic neurological disorder' http://www.ebi.ac.uk/efo/EFO_0007296 hantavirus pulmonary syndrome 'hantavirus pulmonary syndrome' SubClassOf 'viral disease' 'hantavirus pulmonary syndrome' SubClassOf 'has_disease_location' some ('lung' or ('part_of' some 'lung')) 'hantavirus pulmonary syndrome' SubClassOf 'Hantavirus infectious disease' 'hantavirus pulmonary syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024352 'hantavirus pulmonary syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018087 'hantavirus pulmonary syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'hantavirus pulmonary syndrome' SubClassOf 'viral disease' http://www.ebi.ac.uk/efo/EFO_0007295 Hantavirus infectious disease 'Hantavirus infectious disease' SubClassOf 'viral disease' 'Hantavirus infectious disease' SubClassOf 'viral disease' 'Hantavirus infectious disease' SubClassOf 'Bunyaviridae infectious disease' http://www.ebi.ac.uk/efo/EFO_0007299 hemorrhagic fever with renal syndrome 'hemorrhagic fever with renal syndrome' SubClassOf 'viral disease' 'hemorrhagic fever with renal syndrome' SubClassOf 'has_disease_location' some ('kidney' or ('part_of' some 'kidney')) 'hemorrhagic fever with renal syndrome' SubClassOf 'viral disease' http://www.orpha.net/ORDO/Orphanet_96105 Distal trisomy 13q 'Distal trisomy 13q' SubClassOf 'Partial duplication of the long arm of chromosome 13' 'Distal trisomy 13q' SubClassOf 'Partial duplication of the long arm of chromosome 13' http://www.orpha.net/ORDO/Orphanet_98768 Spinocerebellar ataxia type 13 'Spinocerebellar ataxia type 13' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' 'Spinocerebellar ataxia type 13' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' http://www.orpha.net/ORDO/Orphanet_96106 Distal trisomy 16q 'Distal trisomy 16q' SubClassOf 'Partial trisomy of the long arm of chromosome 16' 'Distal trisomy 16q' SubClassOf 'Partial trisomy of the long arm of chromosome 16' http://www.orpha.net/ORDO/Orphanet_98767 Spinocerebellar ataxia type 11 'Spinocerebellar ataxia type 11' SubClassOf 'Autosomal dominant cerebellar ataxia type 3' 'Spinocerebellar ataxia type 11' SubClassOf 'Autosomal dominant cerebellar ataxia type 3' http://www.orpha.net/ORDO/Orphanet_96107 Distal trisomy 20q 'Distal trisomy 20q' SubClassOf 'Partial trisomy of the long arm of chromosome 20' 'Distal trisomy 20q' SubClassOf 'Partial trisomy of the long arm of chromosome 20' http://www.orpha.net/ORDO/Orphanet_98769 Spinocerebellar ataxia type 15/16 'Spinocerebellar ataxia type 15/16' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' 'Spinocerebellar ataxia type 15/16' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' http://www.orpha.net/ORDO/Orphanet_96109 Distal trisomy 22q 'Distal trisomy 22q' SubClassOf 'Partial duplication of the long arm of chromosome 22' 'Distal trisomy 22q' SubClassOf 'Partial duplication of the long arm of chromosome 22' http://purl.obolibrary.org/obo/CHEBI_47381 diclofenac 'diclofenac' SubClassOf 'has_role' some 'anti-inflammatory drug' http://www.orpha.net/ORDO/Orphanet_98771 Spinocerebellar ataxia type 18 'Spinocerebellar ataxia type 18' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' 'Spinocerebellar ataxia type 18' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' http://www.orpha.net/ORDO/Orphanet_98773 Spinocerebellar ataxia type 21 'Spinocerebellar ataxia type 21' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' 'Spinocerebellar ataxia type 21' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' http://www.orpha.net/ORDO/Orphanet_48471 Lissencephaly 'Lissencephaly' SubClassOf 'Cerebral malformation with epilepsy' 'Lissencephaly' SubClassOf 'Genetic syndrome with a central nervous system malformation as major feature' 'Lissencephaly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Lissencephaly' SubClassOf 'Cerebral malformation with epilepsy' 'Lissencephaly' SubClassOf 'Genetic syndrome with a central nervous system malformation as major feature' http://www.orpha.net/ORDO/Orphanet_98772 Spinocerebellar ataxia type 19/22 'Spinocerebellar ataxia type 19/22' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' 'Spinocerebellar ataxia type 19/22' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' http://www.orpha.net/ORDO/Orphanet_96112 Non-distal trisomy 9q 'Non-distal trisomy 9q' SubClassOf 'Partial trisomy of the long arm of chromosome 9' 'Non-distal trisomy 9q' SubClassOf 'Partial trisomy of the long arm of chromosome 9' http://purl.obolibrary.org/obo/ZFA_0000565 pelvic girdle 'pelvic girdle' EquivalentTo 'part_of' some 'pelvic girdle' http://purl.obolibrary.org/obo/CHEBI_34071 1-arachidonoyl-sn-glycerol '1-arachidonoyl-sn-glycerol' SubClassOf 'lipid' '1-arachidonoyl-sn-glycerol' SubClassOf 'lipid' http://www.orpha.net/ORDO/Orphanet_139564 Hereditary sensory and autonomic neuropathy type 1B 'Hereditary sensory and autonomic neuropathy type 1B' SubClassOf 'Autosomal dominant hereditary sensory and autonomic neuropathy' 'Hereditary sensory and autonomic neuropathy type 1B' SubClassOf 'Hereditary sensory and autonomic neuropathy type 1' http://www.orpha.net/ORDO/Orphanet_84132 Desmin-related myopathy with Mallory body-like inclusions 'Desmin-related myopathy with Mallory body-like inclusions' SubClassOf 'Inclusion myopathy' 'Desmin-related myopathy with Mallory body-like inclusions' SubClassOf 'Qualitative or quantitative defects of desmin' 'Desmin-related myopathy with Mallory body-like inclusions' SubClassOf 'Qualitative or quantitative defects of selenoprotein N1' 'Desmin-related myopathy with Mallory body-like inclusions' SubClassOf http://purl.obolibrary.org/obo/MONDO_0011271 'Desmin-related myopathy with Mallory body-like inclusions' SubClassOf 'Inclusion myopathy' http://www.orpha.net/ORDO/Orphanet_3242 Renpenning syndrome 'Renpenning syndrome' SubClassOf 'Syndromic anorectal malformation' 'Renpenning syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Renpenning syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Renpenning syndrome' SubClassOf 'Syndromic anorectal malformation' 'Renpenning syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Renpenning syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Renpenning syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 http://www.orpha.net/ORDO/Orphanet_3241 Deafness-craniofacial syndrome 'Deafness-craniofacial syndrome' SubClassOf 'Syndromic genetic deafness' 'Deafness-craniofacial syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Deafness-craniofacial syndrome' SubClassOf 'Syndromic genetic deafness' 'Deafness-craniofacial syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_295041 Patella aplasia/hypoplasia, bilateral 'Patella aplasia/hypoplasia, bilateral' SubClassOf 'Patella aplasia/hypoplasia' 'Patella aplasia/hypoplasia, bilateral' SubClassOf 'Patella aplasia/hypoplasia' http://www.orpha.net/ORDO/Orphanet_3240 Central nervous system calcification - deafness - tubular acidosis - anemia 'Central nervous system calcification - deafness - tubular acidosis - anemia' SubClassOf 'Syndromic genetic deafness' 'Central nervous system calcification - deafness - tubular acidosis - anemia' SubClassOf 'Primary renal tubular acidosis' 'Central nervous system calcification - deafness - tubular acidosis - anemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Central nervous system calcification - deafness - tubular acidosis - anemia' SubClassOf 'Syndromic genetic deafness' 'Central nervous system calcification - deafness - tubular acidosis - anemia' SubClassOf 'Primary renal tubular acidosis' http://purl.obolibrary.org/obo/CHEBI_46024 trichostatin A 'trichostatin A' SubClassOf 'has_role' some 'antimicrobial agent' http://www.orpha.net/ORDO/Orphanet_295044 Macrodactyly of fingers 'Macrodactyly of fingers' SubClassOf 'Limb overgrowth' 'Macrodactyly of fingers' SubClassOf 'Limb overgrowth' http://www.orpha.net/ORDO/Orphanet_295049 Upper limb hypertrophy 'Upper limb hypertrophy' SubClassOf 'Limb overgrowth' 'Upper limb hypertrophy' SubClassOf 'Limb overgrowth' http://www.orpha.net/ORDO/Orphanet_3248 Distal symphalangism 'Distal symphalangism' SubClassOf 'Joint formation defects' 'Distal symphalangism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000151 'Distal symphalangism' SubClassOf 'Joint formation defects' http://www.orpha.net/ORDO/Orphanet_102283 Multiple congenital anomalies/dysmorphic syndrome-intellectual disability 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019042 http://www.orpha.net/ORDO/Orphanet_295047 Macrodactyly of toes 'Macrodactyly of toes' SubClassOf 'Limb overgrowth' 'Macrodactyly of toes' SubClassOf 'Limb overgrowth' http://www.orpha.net/ORDO/Orphanet_3246 Symphalangism with multiple anomalies of hands and feet 'Symphalangism with multiple anomalies of hands and feet' SubClassOf 'Syndrome with synostosis or other joint formation defect' 'Symphalangism with multiple anomalies of hands and feet' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Symphalangism with multiple anomalies of hands and feet' SubClassOf 'Syndrome with synostosis or other joint formation defect' 'Symphalangism with multiple anomalies of hands and feet' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' http://www.orpha.net/ORDO/Orphanet_98700 Pigmentation disorder with eye involvement 'Pigmentation disorder with eye involvement' SubClassOf 'Genodermatosis with ocular features' 'Pigmentation disorder with eye involvement' SubClassOf 'Genodermatosis with ocular features' http://www.orpha.net/ORDO/Orphanet_85458 Hereditary cerebral hemorrhage with amyloidosis 'Hereditary cerebral hemorrhage with amyloidosis' SubClassOf 'Genetic central nervous system and retinal vascular disease' http://purl.obolibrary.org/obo/CHEBI_62982 ammonium phosphate 'ammonium phosphate' SubClassOf 'has_role' some 'fertilizer' http://www.orpha.net/ORDO/Orphanet_86788 X-linked severe congenital neutropenia 'X-linked severe congenital neutropenia' SubClassOf 'Severe congenital neutropenia' 'X-linked severe congenital neutropenia' SubClassOf 'Severe congenital neutropenia' 'X-linked severe congenital neutropenia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000425 http://www.orpha.net/ORDO/Orphanet_86789 Patella aplasia/hypoplasia 'Patella aplasia/hypoplasia' SubClassOf 'Non-syndromic limb malformation' 'Patella aplasia/hypoplasia' SubClassOf 'Patellar dysostosis' 'Patella aplasia/hypoplasia' SubClassOf 'Non-syndromic limb malformation' 'Patella aplasia/hypoplasia' SubClassOf 'Patellar dysostosis' http://www.orpha.net/ORDO/Orphanet_85450 Familial renal amyloidosis 'Familial renal amyloidosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019724 'Familial renal amyloidosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018634 http://www.orpha.net/ORDO/Orphanet_98709 Ectodermal malformation syndrome associated with ocular features 'Ectodermal malformation syndrome associated with ocular features' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Ectodermal malformation syndrome associated with ocular features' SubClassOf 'eye disease' http://www.orpha.net/ORDO/Orphanet_3255 Filippi syndrome 'Filippi syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Filippi syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Filippi syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Filippi syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Filippi syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Filippi syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 http://www.orpha.net/ORDO/Orphanet_3253 Zlotogora-Ogur syndrome 'Zlotogora-Ogur syndrome' SubClassOf 'Cleft lip/palate - ectodermal dysplasia' 'Zlotogora-Ogur syndrome' SubClassOf 'Orofacial clefting syndrome' 'Zlotogora-Ogur syndrome' SubClassOf 'autosomal recessive disease' 'Zlotogora-Ogur syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000358 'Zlotogora-Ogur syndrome' SubClassOf 'Cleft lip/palate - ectodermal dysplasia' 'Zlotogora-Ogur syndrome' SubClassOf 'Orofacial clefting syndrome' 'Zlotogora-Ogur syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 http://www.orpha.net/ORDO/Orphanet_85451 ATTRV122I amyloidosis 'ATTRV122I amyloidosis' SubClassOf 'cardiac amyloidosis' 'ATTRV122I amyloidosis' SubClassOf 'Familial transthyretin-related amyloidosis' 'ATTRV122I amyloidosis' SubClassOf 'Familial restrictive cardiomyopathy' 'ATTRV122I amyloidosis' SubClassOf 'familial amyloid neuropathy' 'ATTRV122I amyloidosis' SubClassOf 'cardiac amyloidosis' 'ATTRV122I amyloidosis' SubClassOf 'Familial restrictive cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_295053 Amelia of upper limb, unilateral 'Amelia of upper limb, unilateral' SubClassOf 'Amelia of upper limb' 'Amelia of upper limb, unilateral' SubClassOf 'Amelia of upper limb' http://www.orpha.net/ORDO/Orphanet_85453 X-linked reticulate pigmentary disorder with systemic manifestations 'X-linked reticulate pigmentary disorder with systemic manifestations' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'X-linked reticulate pigmentary disorder with systemic manifestations' SubClassOf 'Syndromic corneal dystrophy' 'X-linked reticulate pigmentary disorder with systemic manifestations' SubClassOf 'Syndromic corneal dystrophy' 'X-linked reticulate pigmentary disorder with systemic manifestations' SubClassOf 'Rare genetic neurological disorder' 'X-linked reticulate pigmentary disorder with systemic manifestations' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 'X-linked reticulate pigmentary disorder with systemic manifestations' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018782 'X-linked reticulate pigmentary disorder with systemic manifestations' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015938 'X-linked reticulate pigmentary disorder with systemic manifestations' SubClassOf 'Immune dysregulation disease with immunodeficiency' http://www.orpha.net/ORDO/Orphanet_295051 Lower limb hypertrophy 'Lower limb hypertrophy' SubClassOf 'Limb overgrowth' 'Lower limb hypertrophy' SubClassOf 'Limb overgrowth' http://www.orpha.net/ORDO/Orphanet_3250 Proximal symphalangism 'Proximal symphalangism' SubClassOf 'Syndrome with synostosis or other joint formation defect' 'Proximal symphalangism' SubClassOf 'Syndrome with synostosis or other joint formation defect' 'Proximal symphalangism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000151 'Proximal symphalangism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 http://www.orpha.net/ORDO/Orphanet_98702 Connective tissue disease with eye involvement 'Connective tissue disease with eye involvement' SubClassOf 'connective tissue disease' 'Connective tissue disease with eye involvement' SubClassOf 'eye disease' 'Connective tissue disease with eye involvement' SubClassOf 'connective tissue disease' 'Connective tissue disease with eye involvement' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://www.orpha.net/ORDO/Orphanet_295057 Amelia of lower limb, unilateral 'Amelia of lower limb, unilateral' SubClassOf 'Amelia of lower limb' 'Amelia of lower limb, unilateral' SubClassOf 'Amelia of lower limb' http://www.orpha.net/ORDO/Orphanet_98701 Phakomatosis with eye involvement 'Phakomatosis with eye involvement' SubClassOf 'Genodermatosis with ocular features' 'Phakomatosis with eye involvement' SubClassOf http://purl.obolibrary.org/obo/MONDO_0042983 'Phakomatosis with eye involvement' SubClassOf 'Genodermatosis with ocular features' http://www.orpha.net/ORDO/Orphanet_98704 Onycho-patellar syndrome with eye involvement 'Onycho-patellar syndrome with eye involvement' SubClassOf 'Genodermatosis with ocular features' 'Onycho-patellar syndrome with eye involvement' SubClassOf 'Genodermatosis with ocular features' http://www.orpha.net/ORDO/Orphanet_295055 Amelia of upper limb, bilateral 'Amelia of upper limb, bilateral' SubClassOf 'Amelia of upper limb' 'Amelia of upper limb, bilateral' SubClassOf 'Amelia of upper limb' http://www.orpha.net/ORDO/Orphanet_98703 Disease with potential neoplastic degeneration associated with ocular features 'Disease with potential neoplastic degeneration associated with ocular features' SubClassOf 'Genodermatosis with ocular features' 'Disease with potential neoplastic degeneration associated with ocular features' SubClassOf 'Genodermatosis with ocular features' http://www.orpha.net/ORDO/Orphanet_98706 Oculocutaneous or ocular albinism 'Oculocutaneous or ocular albinism' SubClassOf 'Pigmentation disorder with eye involvement' 'Oculocutaneous or ocular albinism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043209 'Oculocutaneous or ocular albinism' SubClassOf 'Pigmentation disorder with eye involvement' 'Oculocutaneous or ocular albinism' SubClassOf 'Rare genetic neurological disorder' 'Oculocutaneous or ocular albinism' DisjointWith 'Pigmentation disorder with eye involvement, excluding albinism' http://www.orpha.net/ORDO/Orphanet_3259 Syndactyly-polydactyly-ear lobe syndrome 'Syndactyly-polydactyly-ear lobe syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Syndactyly-polydactyly-ear lobe syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' http://www.orpha.net/ORDO/Orphanet_98708 Pigmentation disorder with eye involvement, excluding albinism 'Pigmentation disorder with eye involvement, excluding albinism' SubClassOf 'Pigmentation disorder with eye involvement' 'Pigmentation disorder with eye involvement, excluding albinism' SubClassOf 'Pigmentation disorder with eye involvement' 'Oculocutaneous or ocular albinism' DisjointWith 'Pigmentation disorder with eye involvement, excluding albinism' http://www.orpha.net/ORDO/Orphanet_295059 Amelia of lower limb, bilateral 'Amelia of lower limb, bilateral' SubClassOf 'Amelia of lower limb' 'Amelia of lower limb, bilateral' SubClassOf 'Amelia of lower limb' http://www.orpha.net/ORDO/Orphanet_3258 Cenani-Lenz syndrome 'Cenani-Lenz syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Cenani-Lenz syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' http://www.orpha.net/ORDO/Orphanet_139507 African iron overload 'African iron overload' SubClassOf 'Disorder of iron metabolism and transport' 'African iron overload' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'African iron overload' SubClassOf http://purl.obolibrary.org/obo/MONDO_0006507 http://www.orpha.net/ORDO/Orphanet_98711 Metabolic disease with corneal opacity 'Metabolic disease with corneal opacity' SubClassOf 'Metabolic disease associated with ocular features' 'Metabolic disease with corneal opacity' SubClassOf 'Metabolic disease associated with ocular features' http://www.orpha.net/ORDO/Orphanet_98710 Metabolic disease associated with ocular features 'Metabolic disease associated with ocular features' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Metabolic disease associated with ocular features' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/UBERON_0006603 presumptive mesoderm 'presumptive mesoderm' SubClassOf 'part_of' some 'embryo' 'presumptive mesoderm' SubClassOf http://purl.obolibrary.org/obo/UBERON_0006598 http://www.orpha.net/ORDO/Orphanet_85447 Familial amyloid polyneuropathy 'Familial amyloid polyneuropathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015923 http://purl.obolibrary.org/obo/UBERON_0006601 presumptive ectoderm 'presumptive ectoderm' SubClassOf 'part_of' some 'embryo' 'presumptive ectoderm' SubClassOf http://purl.obolibrary.org/obo/UBERON_0006598 http://www.orpha.net/ORDO/Orphanet_85448 Familial amyloidosis, Finnish type 'Familial amyloidosis, Finnish type' SubClassOf 'Rare hereditary systemic disease with peripheral neuropathy' 'Familial amyloidosis, Finnish type' SubClassOf 'amyloidosis' 'Familial amyloidosis, Finnish type' SubClassOf 'Syndromic corneal dystrophy' 'Familial amyloidosis, Finnish type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018634 'Familial amyloidosis, Finnish type' SubClassOf 'Rare hereditary systemic disease with peripheral neuropathy' 'Familial amyloidosis, Finnish type' SubClassOf 'amyloidosis' 'Familial amyloidosis, Finnish type' SubClassOf 'Syndromic corneal dystrophy' 'Familial amyloidosis, Finnish type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015923 http://www.orpha.net/ORDO/Orphanet_59181 Sorsby's fundus dystrophy 'Sorsby's fundus dystrophy' SubClassOf 'Unclassified primitive or secondary maculopathy' 'Sorsby's fundus dystrophy' SubClassOf 'Unclassified primitive or secondary maculopathy' http://purl.obolibrary.org/obo/UBERON_0006600 presumptive enteric nervous system 'presumptive enteric nervous system' SubClassOf 'develops_from' some 'presumptive neural plate' 'presumptive enteric nervous system' SubClassOf http://purl.obolibrary.org/obo/UBERON_0006598 'presumptive enteric nervous system' SubClassOf 'part_of' some 'embryo' 'presumptive enteric nervous system' SubClassOf 'develops_from' some 'ectoderm' http://www.orpha.net/ORDO/Orphanet_3267 Familial lambdoid synostosis 'Familial lambdoid synostosis' SubClassOf 'Isolated craniosynostosis' 'Familial lambdoid synostosis' SubClassOf 'Isolated craniosynostosis' http://www.orpha.net/ORDO/Orphanet_3266 Humero-radio-ulnar synostosis 'Humero-radio-ulnar synostosis' SubClassOf 'Joint formation defects' 'Humero-radio-ulnar synostosis' SubClassOf 'Joint formation defects' http://www.orpha.net/ORDO/Orphanet_3265 Humero-radial synostosis 'Humero-radial synostosis' SubClassOf 'Joint formation defects' 'Humero-radial synostosis' SubClassOf 'Joint formation defects' http://purl.obolibrary.org/obo/UBERON_0006618 atrial appendage 'atrial appendage' SubClassOf 'part_of' some 'right atrium' 'atrial appendage' SubClassOf 'part_of' some 'left cardiac atrium' 'external ear' DisjointWith 'atrial appendage' http://www.orpha.net/ORDO/Orphanet_85443 AL amyloidosis 'AL amyloidosis' SubClassOf 'amyloidosis' 'AL amyloidosis' SubClassOf 'amyloidosis' 'AL amyloidosis' SubClassOf 'Non-familial restrictive cardiomyopathy' 'AL amyloidosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019724 'AL amyloidosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016179 'AL amyloidosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016330 http://www.orpha.net/ORDO/Orphanet_3263 Syngnathia - cleft palate 'Syngnathia - cleft palate' SubClassOf 'Orofacial clefting syndrome' 'Syngnathia - cleft palate' SubClassOf 'Orofacial clefting syndrome' http://www.orpha.net/ORDO/Orphanet_295063 Humeral agenesis/hypoplasia, bilateral 'Humeral agenesis/hypoplasia, bilateral' SubClassOf 'Humeral agenesis/hypoplasia' 'Humeral agenesis/hypoplasia, bilateral' SubClassOf 'Humeral agenesis/hypoplasia' http://www.orpha.net/ORDO/Orphanet_3262 Syngnathia multiple anomalies 'Syngnathia multiple anomalies' SubClassOf 'Dysostosis with predominant craniofacial involvement' 'Syngnathia multiple anomalies' SubClassOf 'Dysostosis with predominant craniofacial involvement' http://www.orpha.net/ORDO/Orphanet_85442 Short stature - pituitary and cerebellar defects - small sella turcica 'Short stature - pituitary and cerebellar defects - small sella turcica' SubClassOf 'Disease associated with non-acquired combined pituitary hormone deficiency' 'Short stature - pituitary and cerebellar defects - small sella turcica' SubClassOf 'Combined pituitary hormone deficiencies, genetic forms' 'Short stature - pituitary and cerebellar defects - small sella turcica' SubClassOf 'Disease associated with non-acquired combined pituitary hormone deficiency' http://www.orpha.net/ORDO/Orphanet_3261 Autoimmune lymphoproliferative syndrome 'Autoimmune lymphoproliferative syndrome' SubClassOf 'Lymphoproliferative syndrome' 'Autoimmune lymphoproliferative syndrome' SubClassOf 'Immunodeficiency syndrome with autoimmunity' 'Autoimmune lymphoproliferative syndrome' SubClassOf 'Lymphoproliferative syndrome' 'Autoimmune lymphoproliferative syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002459 'Autoimmune lymphoproliferative syndrome' SubClassOf 'Immunodeficiency syndrome with autoimmunity' http://www.orpha.net/ORDO/Orphanet_295061 Humeral agenesis/hypoplasia, unilateral 'Humeral agenesis/hypoplasia, unilateral' SubClassOf 'Humeral agenesis/hypoplasia' 'Humeral agenesis/hypoplasia, unilateral' SubClassOf 'Humeral agenesis/hypoplasia' http://www.orpha.net/ORDO/Orphanet_98713 Metabolic disease with pigmentary retinitis 'Metabolic disease with pigmentary retinitis' SubClassOf 'Metabolic disease associated with ocular features' 'Metabolic disease with pigmentary retinitis' SubClassOf 'Metabolic disease associated with ocular features' http://www.orpha.net/ORDO/Orphanet_98712 Metabolic disease with cataract 'Metabolic disease with cataract' SubClassOf 'Metabolic disease associated with ocular features' 'Metabolic disease with cataract' SubClassOf 'Metabolic disease associated with ocular features' http://www.orpha.net/ORDO/Orphanet_295067 Femoral agenesis/hypoplasia, bilateral 'Femoral agenesis/hypoplasia, bilateral' SubClassOf 'Femoral agenesis/hypoplasia' 'Femoral agenesis/hypoplasia, bilateral' SubClassOf 'Femoral agenesis/hypoplasia' http://www.orpha.net/ORDO/Orphanet_295065 Femoral agenesis/hypoplasia, unilateral 'Femoral agenesis/hypoplasia, unilateral' SubClassOf 'Femoral agenesis/hypoplasia' 'Femoral agenesis/hypoplasia, unilateral' SubClassOf 'Femoral agenesis/hypoplasia' http://www.orpha.net/ORDO/Orphanet_98714 Metabolic disease with macular cherry-red spot 'Metabolic disease with macular cherry-red spot' SubClassOf 'Metabolic disease associated with ocular features' 'Metabolic disease with macular cherry-red spot' SubClassOf 'Metabolic disease associated with ocular features' http://purl.obolibrary.org/obo/CHEBI_73707 gamma-Glu-Gln 'gamma-Glu-Gln' SubClassOf 'amide' 'gamma-Glu-Gln' SubClassOf 'amide' http://purl.obolibrary.org/obo/CHEBI_73705 gamma-Glu-Glu 'gamma-Glu-Glu' SubClassOf 'amide' 'gamma-Glu-Glu' SubClassOf 'amide' http://www.orpha.net/ORDO/Orphanet_295069 Radial hemimelia, unilateral 'Radial hemimelia, unilateral' SubClassOf 'Radial hemimelia' 'Radial hemimelia, unilateral' SubClassOf 'Radial hemimelia' http://www.orpha.net/ORDO/Orphanet_3268 Synostosis - microcephaly - scoliosis 'Synostosis - microcephaly - scoliosis' SubClassOf 'Syndrome with synostosis or other joint formation defect' 'Synostosis - microcephaly - scoliosis' SubClassOf 'Syndrome with synostosis or other joint formation defect' http://www.orpha.net/ORDO/Orphanet_139518 Distal hereditary motor neuropathy type 1 'Distal hereditary motor neuropathy type 1' SubClassOf 'Autosomal dominant distal hereditary motor neuropathy' 'Distal hereditary motor neuropathy type 1' SubClassOf 'Charcot-Marie-Tooth disease' 'Distal hereditary motor neuropathy type 1' SubClassOf 'Autosomal dominant distal hereditary motor neuropathy' 'Distal hereditary motor neuropathy type 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000075 http://www.orpha.net/ORDO/Orphanet_139515 Charcot-Marie-Tooth disease type 4J 'Charcot-Marie-Tooth disease type 4J' SubClassOf 'Charcot-Marie-Tooth disease type 4' 'Charcot-Marie-Tooth disease type 4J' SubClassOf 'Charcot-Marie-Tooth disease type 4' http://www.orpha.net/ORDO/Orphanet_139512 Neuropathy with hearing impairment 'Neuropathy with hearing impairment' SubClassOf 'Autosomal dominant hereditary demyelinating motor and sensory neuropathy' 'Neuropathy with hearing impairment' SubClassOf 'Syndromic genetic deafness' 'Neuropathy with hearing impairment' SubClassOf 'Autosomal dominant hereditary demyelinating motor and sensory neuropathy' 'Neuropathy with hearing impairment' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_295071 Radial hemimelia, bilateral 'Radial hemimelia, bilateral' SubClassOf 'Radial hemimelia' 'Radial hemimelia, bilateral' SubClassOf 'Radial hemimelia' http://www.orpha.net/ORDO/Orphanet_3275 Spondylocarpotarsal synostosis 'Spondylocarpotarsal synostosis' SubClassOf 'Filamin-related bone disorder' 'Spondylocarpotarsal synostosis' SubClassOf 'Spondylodysplastic dysplasia' 'Spondylocarpotarsal synostosis' SubClassOf 'Filamin-related bone disorder' 'Spondylocarpotarsal synostosis' SubClassOf 'Spondylodysplastic dysplasia' http://www.orpha.net/ORDO/Orphanet_295075 Ulnar hemimelia, unilateral 'Ulnar hemimelia, unilateral' SubClassOf 'Ulnar hemimelia' 'Ulnar hemimelia, unilateral' SubClassOf 'Ulnar hemimelia' http://www.orpha.net/ORDO/Orphanet_295073 Ulnar hemimelia, bilateral 'Ulnar hemimelia, bilateral' SubClassOf 'Ulnar hemimelia' 'Ulnar hemimelia, bilateral' SubClassOf 'Ulnar hemimelia' http://www.orpha.net/ORDO/Orphanet_295079 Tibial hemimelia, bilateral 'Tibial hemimelia, bilateral' SubClassOf 'Tibial hemimelia' 'Tibial hemimelia, bilateral' SubClassOf 'Tibial hemimelia' http://www.orpha.net/ORDO/Orphanet_98724 congenital anomaly of the great arteries 'congenital anomaly of the great arteries' SubClassOf 'vascular disease' 'congenital anomaly of the great arteries' SubClassOf 'congenital heart malformation' 'congenital anomaly of the great arteries' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018723 http://purl.obolibrary.org/obo/CHEBI_35366 fatty acid 'fatty acid' SubClassOf 'acid' 'fatty acid' SubClassOf 'acid' http://www.orpha.net/ORDO/Orphanet_295077 Tibial hemimelia, unilateral 'Tibial hemimelia, unilateral' SubClassOf 'Tibial hemimelia' 'Tibial hemimelia, unilateral' SubClassOf 'Tibial hemimelia' http://www.orpha.net/ORDO/Orphanet_139525 Distal hereditary motor neuropathy type 2 'Distal hereditary motor neuropathy type 2' SubClassOf 'Autosomal dominant distal hereditary motor neuropathy' 'Distal hereditary motor neuropathy type 2' SubClassOf 'Autosomal dominant distal hereditary motor neuropathy' http://www.orpha.net/ORDO/Orphanet_98733 Noonan syndrome and Noonan-related syndrome 'Noonan syndrome and Noonan-related syndrome' SubClassOf 'Genetic malformation syndrome with short stature' 'Noonan syndrome and Noonan-related syndrome' SubClassOf 'Syndrome associated with hypertrophic cardiomyopathy' 'Noonan syndrome and Noonan-related syndrome' SubClassOf 'Genetic malformation syndrome with short stature' 'Noonan syndrome and Noonan-related syndrome' SubClassOf 'Syndrome associated with hypertrophic cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_3270 Radio-ulnar synostosis - intellectual disability - hypotonia 'Radio-ulnar synostosis - intellectual disability - hypotonia' SubClassOf 'Syndrome with synostosis or other joint formation defect' 'Radio-ulnar synostosis - intellectual disability - hypotonia' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Radio-ulnar synostosis - intellectual disability - hypotonia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017985 'Radio-ulnar synostosis - intellectual disability - hypotonia' SubClassOf 'developmental disability' 'Radio-ulnar synostosis - intellectual disability - hypotonia' SubClassOf 'Syndrome with synostosis or other joint formation defect' 'Radio-ulnar synostosis - intellectual disability - hypotonia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Radio-ulnar synostosis - intellectual disability - hypotonia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Radio-ulnar synostosis - intellectual disability - hypotonia' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_3322 Hoyeraal-Hreidarsson syndrome 'Hoyeraal-Hreidarsson syndrome' SubClassOf 'Other immunodeficiency syndrome due to defects in adaptive immunity' 'Hoyeraal-Hreidarsson syndrome' SubClassOf 'Rare constitutional medullar aplasia' 'Hoyeraal-Hreidarsson syndrome' SubClassOf 'Genetic syndrome with a cerebellar malformation as major feature' 'Hoyeraal-Hreidarsson syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Hoyeraal-Hreidarsson syndrome' SubClassOf 'Genetic syndrome with a cerebellar malformation as major feature' 'Hoyeraal-Hreidarsson syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0010584 http://www.orpha.net/ORDO/Orphanet_3320 Thrombocytopenia - absent radius 'Thrombocytopenia - absent radius' SubClassOf 'Genetic syndrome with limb reduction defects' 'Thrombocytopenia - absent radius' SubClassOf 'Rare hemorrhagic disorder due to a constitutional thrombocytopenia' 'Thrombocytopenia - absent radius' SubClassOf 'Genetic syndrome with limb reduction defects' 'Thrombocytopenia - absent radius' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000761 'Thrombocytopenia - absent radius' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' 'Thrombocytopenia - absent radius' SubClassOf http://purl.obolibrary.org/obo/MONDO_0009332 'Thrombocytopenia - absent radius' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018795 http://www.orpha.net/ORDO/Orphanet_308520 Glycogen storage disease due to glycogen synthase deficiency 'Glycogen storage disease due to glycogen synthase deficiency' SubClassOf 'Glycogen storage disease' 'Glycogen storage disease due to glycogen synthase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044976 'Glycogen storage disease due to glycogen synthase deficiency' SubClassOf 'Glycogen storage disease' http://www.orpha.net/ORDO/Orphanet_309851 Disorder of manganese transport 'Disorder of manganese transport' SubClassOf 'Disorder of mineral absorption and transport' 'Disorder of manganese transport' SubClassOf 'Disorder of mineral absorption and transport' http://www.orpha.net/ORDO/Orphanet_295002 Hyperphalangy 'Hyperphalangy' SubClassOf 'Non-syndromic polydactyly, syndactyly and/or hyperphalangy' 'Hyperphalangy' SubClassOf 'Non-syndromic polydactyly, syndactyly and/or hyperphalangy' http://www.orpha.net/ORDO/Orphanet_3329 Tibial aplasia - ectrodactyly 'Tibial aplasia - ectrodactyly' SubClassOf 'Orofacial clefting syndrome' 'Tibial aplasia - ectrodactyly' SubClassOf 'Dysostosis with combined reduction defects of upper and lower limbs' 'Tibial aplasia - ectrodactyly' SubClassOf 'Genetic syndrome with limb reduction defects' 'Tibial aplasia - ectrodactyly' SubClassOf 'Orofacial clefting syndrome' 'Tibial aplasia - ectrodactyly' SubClassOf 'Dysostosis with combined reduction defects of upper and lower limbs' 'Tibial aplasia - ectrodactyly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 'Tibial aplasia - ectrodactyly' SubClassOf 'Genetic syndrome with limb reduction defects' http://www.orpha.net/ORDO/Orphanet_295000 Constriction rings syndrome 'Constriction rings syndrome' SubClassOf 'Amniotic bands' 'Constriction rings syndrome' SubClassOf 'Amniotic bands' http://www.orpha.net/ORDO/Orphanet_3328 Absent tibia - polydactyly - arachnoid cyst 'Absent tibia - polydactyly - arachnoid cyst' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Absent tibia - polydactyly - arachnoid cyst' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Absent tibia - polydactyly - arachnoid cyst' SubClassOf 'Genetic syndrome with limb reduction defects' 'Absent tibia - polydactyly - arachnoid cyst' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Absent tibia - polydactyly - arachnoid cyst' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Absent tibia - polydactyly - arachnoid cyst' SubClassOf 'Genetic syndrome with limb reduction defects' http://purl.obolibrary.org/obo/CHEBI_35455 1-naphthyl isothiocyanate '1-naphthyl isothiocyanate' SubClassOf 'has_role' some 'insecticide' http://www.orpha.net/ORDO/Orphanet_3327 Thyrocerebrorenal syndrome 'Thyrocerebrorenal syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Thyrocerebrorenal syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' http://www.orpha.net/ORDO/Orphanet_295006 Preaxial polydactyly of toes 'Preaxial polydactyly of toes' SubClassOf 'Polydactyly' 'Preaxial polydactyly of toes' SubClassOf 'Polydactyly' http://www.orpha.net/ORDO/Orphanet_3326 Thymic-renal-anal-lung dysplasia 'Thymic-renal-anal-lung dysplasia' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Thymic-renal-anal-lung dysplasia' SubClassOf 'Syndromic renal or urinary tract malformation' 'Thymic-renal-anal-lung dysplasia' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Thymic-renal-anal-lung dysplasia' SubClassOf 'Syndromic renal or urinary tract malformation' http://www.orpha.net/ORDO/Orphanet_295004 Central polydactyly of fingers 'Central polydactyly of fingers' SubClassOf 'Polydactyly' 'Central polydactyly of fingers' SubClassOf 'Polydactyly' http://www.orpha.net/ORDO/Orphanet_3324 Familial thrombomodulin anomalies 'Familial thrombomodulin anomalies' SubClassOf 'Rare thrombotic disorder due to a constitutional coagulation factors defect' 'Familial thrombomodulin anomalies' SubClassOf 'Rare thrombotic disorder due to a constitutional coagulation factors defect' http://www.orpha.net/ORDO/Orphanet_3323 Thrombocytopenia - Robin sequence 'Thrombocytopenia - Robin sequence' SubClassOf 'Orofacial clefting syndrome' 'Thrombocytopenia - Robin sequence' SubClassOf 'Orofacial clefting syndrome' http://www.orpha.net/ORDO/Orphanet_96164 Non-distal monosomy 20q 'Non-distal monosomy 20q' SubClassOf 'Partial deletion of the long arm of chromosome 20' 'Non-distal monosomy 20q' SubClassOf 'Partial deletion of the long arm of chromosome 20' http://purl.obolibrary.org/obo/UBERON_0005383 caudate-putamen 'caudate-putamen' SubClassOf 'part_of' some 'corpus striatum' http://purl.obolibrary.org/obo/CHEBI_86910 N-acetyl histidine 'N-acetyl histidine' SubClassOf 'chemical entity' 'N-acetyl histidine' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_96167 Recombinant 8 syndrome 'Recombinant 8 syndrome' SubClassOf 'Complex chromosomal rearrangement' 'Recombinant 8 syndrome' SubClassOf 'Complex chromosomal rearrangement' http://www.orpha.net/ORDO/Orphanet_96168 Monosomy 13q34 'Monosomy 13q34' SubClassOf 'Partial deletion of the long arm of chromosome 13' 'Monosomy 13q34' SubClassOf 'Syndromic anorectal malformation' 'Monosomy 13q34' SubClassOf 'Partial deletion of the long arm of chromosome 13' 'Monosomy 13q34' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020226 'Monosomy 13q34' SubClassOf 'Syndromic anorectal malformation' http://www.orpha.net/ORDO/Orphanet_96169 Koolen-De Vries syndrome 'Koolen-De Vries syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Koolen-De Vries syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome 'Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome' SubClassOf 'Disorder of manganese transport' 'Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome' SubClassOf 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' 'Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome' SubClassOf 'Disorder of manganese transport' 'Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome' SubClassOf 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' 'Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000214 http://www.orpha.net/ORDO/Orphanet_96160 Non-distal monosomy 12q 'Non-distal monosomy 12q' SubClassOf 'Partial deletion of the long arm of chromosome 12' 'Non-distal monosomy 12q' SubClassOf 'Partial deletion of the long arm of chromosome 12' http://www.orpha.net/ORDO/Orphanet_2001 Cleft lip/palate - intestinal malrotation - cardiopathy 'Cleft lip/palate - intestinal malrotation - cardiopathy' SubClassOf 'Orofacial clefting syndrome' 'Cleft lip/palate - intestinal malrotation - cardiopathy' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Cleft lip/palate - intestinal malrotation - cardiopathy' SubClassOf 'Orofacial clefting syndrome' 'Cleft lip/palate - intestinal malrotation - cardiopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 'Cleft lip/palate - intestinal malrotation - cardiopathy' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_3332 Hypoplastic tibiae - postaxial polydactyly 'Hypoplastic tibiae - postaxial polydactyly' SubClassOf 'Dysostosis with combined reduction defects of upper and lower limbs' 'Hypoplastic tibiae - postaxial polydactyly' SubClassOf 'Dysostosis with combined reduction defects of upper and lower limbs' 'Hypoplastic tibiae - postaxial polydactyly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0008572 http://purl.obolibrary.org/obo/BTO_0002842 cholangioma cell 'cholangioma cell' SubClassOf 'develops_from' some 'bile duct' http://purl.obolibrary.org/obo/BTO_0002844 breast invasive ductal carcinoma cell 'breast invasive ductal carcinoma cell' SubClassOf 'bearer_of' some 'invasive ductal carcinoma' 'breast invasive ductal carcinoma cell' SubClassOf 'develops_from' some 'mammary gland' http://purl.obolibrary.org/obo/CHEBI_36791 escitalopram 'escitalopram' SubClassOf 'chemical entity' 'escitalopram' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_73610 Met-Ala 'Met-Ala' SubClassOf 'amide' 'Met-Ala' SubClassOf 'amide' http://www.orpha.net/ORDO/Orphanet_295012 Syndactyly type 6 'Syndactyly type 6' SubClassOf 'Syndactyly' 'Syndactyly type 6' SubClassOf 'Syndactyly' http://www.orpha.net/ORDO/Orphanet_2008 Acro-cardio-facial syndrome 'Acro-cardio-facial syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Acro-cardio-facial syndrome' SubClassOf 'Orofacial clefting syndrome' 'Acro-cardio-facial syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Acro-cardio-facial syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Acro-cardio-facial syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Acro-cardio-facial syndrome' SubClassOf 'Orofacial clefting syndrome' 'Acro-cardio-facial syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 http://www.orpha.net/ORDO/Orphanet_3339 Toriello-Lacassie-Droste syndrome 'Toriello-Lacassie-Droste syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Toriello-Lacassie-Droste syndrome' SubClassOf 'Ectodermal dysplasia syndrome' http://www.orpha.net/ORDO/Orphanet_2007 Alar cartilages hypoplasia - coloboma - telecanthus 'Alar cartilages hypoplasia - coloboma - telecanthus' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Alar cartilages hypoplasia - coloboma - telecanthus' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_295010 Central polydactyly of toes 'Central polydactyly of toes' SubClassOf 'Polydactyly' 'Central polydactyly of toes' SubClassOf 'Polydactyly' http://www.orpha.net/ORDO/Orphanet_3338 Toriello-Carey syndrome 'Toriello-Carey syndrome' SubClassOf 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' 'Toriello-Carey syndrome' SubClassOf 'Orofacial clefting syndrome' 'Toriello-Carey syndrome' SubClassOf 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' 'Toriello-Carey syndrome' SubClassOf 'Orofacial clefting syndrome' 'Toriello-Carey syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007 'Toriello-Carey syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 'Toriello-Carey syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016055 http://www.orpha.net/ORDO/Orphanet_3337 Primary Fanconi syndrome 'Primary Fanconi syndrome' SubClassOf 'renal tubule disease' 'Primary Fanconi syndrome' SubClassOf 'Genetic renal tubular disease' 'Primary Fanconi syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001083 'Primary Fanconi syndrome' SubClassOf 'Genetic renal tubular disease' http://www.orpha.net/ORDO/Orphanet_295016 Camptodactyly of fingers 'Camptodactyly of fingers' SubClassOf 'Congenital deformities of fingers' 'Camptodactyly of fingers' SubClassOf 'Congenital deformities of fingers' http://www.orpha.net/ORDO/Orphanet_2003 Cleft lip/palate - deafness - sacral lipoma 'Cleft lip/palate - deafness - sacral lipoma' SubClassOf 'Syndromic genetic deafness' 'Cleft lip/palate - deafness - sacral lipoma' SubClassOf 'Orofacial clefting syndrome' 'Cleft lip/palate - deafness - sacral lipoma' SubClassOf 'Syndromic genetic deafness' 'Cleft lip/palate - deafness - sacral lipoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 'Cleft lip/palate - deafness - sacral lipoma' SubClassOf 'Orofacial clefting syndrome' http://www.orpha.net/ORDO/Orphanet_295014 Familial isolated clinodactyly of fingers 'Familial isolated clinodactyly of fingers' SubClassOf 'Congenital deformities of fingers' 'Familial isolated clinodactyly of fingers' SubClassOf 'Congenital deformities of fingers' http://purl.obolibrary.org/obo/UBERON_0005396 carotid artery 'carotid artery' SubClassOf 'artery' 'carotid artery' SubClassOf http://purl.obolibrary.org/obo/UBERON_0004573 http://www.orpha.net/ORDO/Orphanet_96175 Ring chromosome 11 'Ring chromosome 11' SubClassOf 'Ring chromosome' 'Ring chromosome 11' SubClassOf 'Ring chromosome' http://www.orpha.net/ORDO/Orphanet_295008 Postaxial polydactyly of toes 'Postaxial polydactyly of toes' SubClassOf 'Polydactyly' 'Postaxial polydactyly of toes' SubClassOf 'Polydactyly' http://www.orpha.net/ORDO/Orphanet_96176 Ring chromosome 13 'Ring chromosome 13' SubClassOf 'Syndromic anorectal malformation' 'Ring chromosome 13' SubClassOf 'Ring chromosome' 'Ring chromosome 13' SubClassOf 'Syndromic anorectal malformation' 'Ring chromosome 13' SubClassOf 'Ring chromosome' http://www.orpha.net/ORDO/Orphanet_96177 Ring chromosome 15 'Ring chromosome 15' SubClassOf 'Ring chromosome' 'Ring chromosome 15' SubClassOf 'Ring chromosome' http://www.orpha.net/ORDO/Orphanet_96178 Ring chromosome 16 'Ring chromosome 16' SubClassOf 'Ring chromosome' 'Ring chromosome 16' SubClassOf 'Ring chromosome' http://purl.obolibrary.org/obo/BTO_0001518 B-lymphoma cell line 'B-lymphoma cell line' SubClassOf 'bearer_of' some 'lymphoma' http://www.orpha.net/ORDO/Orphanet_96179 Maternal uniparental disomy of chromosome 2 'Maternal uniparental disomy of chromosome 2' SubClassOf 'Uniparental disomy of maternal origin' 'Maternal uniparental disomy of chromosome 2' SubClassOf 'Uniparental disomy of maternal origin' http://purl.obolibrary.org/obo/BTO_0001516 BA/F3 cell 'BA/F3 cell' SubClassOf 'derives_from' some ('cell type' and ('part_of' some (('developmental stage' or 'organism part') and ('part_of' some 'Mus')))) 'BA/F3 cell' SubClassOf 'derives_from' some 'BALB/c' http://purl.obolibrary.org/obo/UBERON_0004068 medial nasal prominence 'medial nasal prominence' SubClassOf 'head' 'medial nasal prominence' SubClassOf http://purl.obolibrary.org/obo/UBERON_0009292 'lateral nasal prominence' DisjointWith 'medial nasal prominence' 'medial nasal prominence' SubClassOf 'head' http://www.orpha.net/ORDO/Orphanet_96170 Emanuel syndrome 'Emanuel syndrome' SubClassOf 'Complex chromosomal rearrangement' 'Emanuel syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015216 'Emanuel syndrome' SubClassOf 'Complex chromosomal rearrangement' 'Emanuel syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015880 http://purl.obolibrary.org/obo/UBERON_0004067 lateral nasal prominence 'lateral nasal prominence' SubClassOf 'head' 'lateral nasal prominence' DisjointWith 'medial nasal prominence' 'lateral nasal prominence' SubClassOf 'head' 'lateral nasal prominence' SubClassOf http://purl.obolibrary.org/obo/UBERON_0009292 http://www.orpha.net/ORDO/Orphanet_96171 Ring chromosome 2 'Ring chromosome 2' SubClassOf 'Ring chromosome' 'Ring chromosome 2' SubClassOf 'Ring chromosome' http://www.orpha.net/ORDO/Orphanet_96172 Ring chromosome 3 'Ring chromosome 3' SubClassOf 'Ring chromosome' 'Ring chromosome 3' SubClassOf 'Ring chromosome' http://www.orpha.net/ORDO/Orphanet_96173 Ring chromosome 9 'Ring chromosome 9' SubClassOf 'Ring chromosome' 'Ring chromosome 9' SubClassOf 'Ring chromosome' http://www.orpha.net/ORDO/Orphanet_2013 Cleft palate - large ears - small head 'Cleft palate - large ears - small head' SubClassOf 'Orofacial clefting syndrome' 'Cleft palate - large ears - small head' SubClassOf 'Orofacial clefting syndrome' http://www.orpha.net/ORDO/Orphanet_3344 Weismann-Netter syndrome 'Weismann-Netter syndrome' SubClassOf 'Bent bone dysplasia' 'Weismann-Netter syndrome' SubClassOf 'Bent bone dysplasia' http://www.orpha.net/ORDO/Orphanet_3342 Arterial tortuosity syndrome 'Arterial tortuosity syndrome' SubClassOf 'Cutis laxa' 'Arterial tortuosity syndrome' SubClassOf 'Rare disease with thoracic aortic aneurysm and aortic dissection' 'Arterial tortuosity syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043218 'Arterial tortuosity syndrome' SubClassOf 'Cutis laxa' 'Arterial tortuosity syndrome' SubClassOf 'connective tissue disease' 'Arterial tortuosity syndrome' SubClassOf 'Rare disease with thoracic aortic aneurysm and aortic dissection' 'Arterial tortuosity syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 http://www.orpha.net/ORDO/Orphanet_2010 Cleft palate - stapes fixation - oligodontia 'Cleft palate - stapes fixation - oligodontia' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Cleft palate - stapes fixation - oligodontia' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' http://www.orpha.net/ORDO/Orphanet_3341 Torticollis - keloids - cryptorchidism - renal dysplasia 'Torticollis - keloids - cryptorchidism - renal dysplasia' SubClassOf 'Syndromic urogenital tract malformation' 'Torticollis - keloids - cryptorchidism - renal dysplasia' SubClassOf 'Syndromic urogenital tract malformation' http://www.orpha.net/ORDO/Orphanet_295020 Congenital pseudoarthrosis of the femur 'Congenital pseudoarthrosis of the femur' SubClassOf 'Congenital pseudoarthrosis of the limbs' 'Congenital pseudoarthrosis of the femur' SubClassOf 'Congenital pseudoarthrosis of the limbs' http://www.orpha.net/ORDO/Orphanet_295024 Congenital pseudoarthrosis of the radius 'Congenital pseudoarthrosis of the radius' SubClassOf 'Congenital pseudoarthrosis of the limbs' 'Congenital pseudoarthrosis of the radius' SubClassOf 'Congenital pseudoarthrosis of the limbs' http://www.orpha.net/ORDO/Orphanet_2019 Femur-fibula-ulna complex 'Femur-fibula-ulna complex' SubClassOf 'Dysostosis with combined reduction defects of upper and lower limbs' 'Femur-fibula-ulna complex' SubClassOf 'Dysostosis with combined reduction defects of upper and lower limbs' http://www.orpha.net/ORDO/Orphanet_295022 Congenital pseudoarthrosis of the fibula 'Congenital pseudoarthrosis of the fibula' SubClassOf 'Congenital pseudoarthrosis of the limbs' 'Congenital pseudoarthrosis of the fibula' SubClassOf 'Congenital pseudoarthrosis of the limbs' http://purl.obolibrary.org/obo/NCBITaxon_286 Pseudomonas 'Pseudomonas' SubClassOf 'Bacteria' 'Pseudomonas' SubClassOf 'Bacteria' http://www.orpha.net/ORDO/Orphanet_295028 Tibio-fibular synostosis 'Tibio-fibular synostosis' SubClassOf 'Joint formation defects' 'Tibio-fibular synostosis' SubClassOf 'Joint formation defects' http://www.orpha.net/ORDO/Orphanet_2016 Cleft palate-lateral synechia syndrome 'Cleft palate-lateral synechia syndrome' SubClassOf 'Orofacial clefting syndrome' 'Cleft palate-lateral synechia syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Cleft palate-lateral synechia syndrome' SubClassOf 'Orofacial clefting syndrome' 'Cleft palate-lateral synechia syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Cleft palate-lateral synechia syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 http://www.orpha.net/ORDO/Orphanet_2015 Cleft palate - short stature - vertebral anomalies 'Cleft palate - short stature - vertebral anomalies' SubClassOf 'Orofacial clefting syndrome' 'Cleft palate - short stature - vertebral anomalies' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Cleft palate - short stature - vertebral anomalies' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 'Cleft palate - short stature - vertebral anomalies' SubClassOf 'Orofacial clefting syndrome' 'Cleft palate - short stature - vertebral anomalies' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Cleft palate - short stature - vertebral anomalies' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Cleft palate - short stature - vertebral anomalies' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_295026 Congenital pseudoarthrosis of the ulna 'Congenital pseudoarthrosis of the ulna' SubClassOf 'Congenital pseudoarthrosis of the limbs' 'Congenital pseudoarthrosis of the ulna' SubClassOf 'Congenital pseudoarthrosis of the limbs' http://www.orpha.net/ORDO/Orphanet_96185 Maternal uniparental disomy of chromosome 16 'Maternal uniparental disomy of chromosome 16' SubClassOf 'Syndromic anorectal malformation' 'Maternal uniparental disomy of chromosome 16' SubClassOf 'Uniparental disomy of maternal origin' 'Maternal uniparental disomy of chromosome 16' SubClassOf 'Syndromic anorectal malformation' 'Maternal uniparental disomy of chromosome 16' SubClassOf 'Uniparental disomy of maternal origin' http://www.orpha.net/ORDO/Orphanet_96186 Maternal uniparental disomy of chromosome 20 'Maternal uniparental disomy of chromosome 20' SubClassOf 'Uniparental disomy of maternal origin' 'Maternal uniparental disomy of chromosome 20' SubClassOf 'Uniparental disomy of maternal origin' http://www.orpha.net/ORDO/Orphanet_309839 Disorder of copper metabolism 'Disorder of copper metabolism' SubClassOf 'Disorder of mineral absorption and transport' 'Disorder of copper metabolism' SubClassOf 'Disorder of mineral absorption and transport' http://www.orpha.net/ORDO/Orphanet_96187 Maternal uniparental disomy of chromosome 21 'Maternal uniparental disomy of chromosome 21' SubClassOf 'Uniparental disomy of maternal origin' 'Maternal uniparental disomy of chromosome 21' SubClassOf 'Uniparental disomy of maternal origin' http://www.orpha.net/ORDO/Orphanet_295018 Congenital pseudoarthrosis of the tibia 'Congenital pseudoarthrosis of the tibia' SubClassOf 'Congenital pseudoarthrosis of the limbs' 'Congenital pseudoarthrosis of the tibia' SubClassOf 'Congenital pseudoarthrosis of the limbs' http://www.orpha.net/ORDO/Orphanet_96188 Maternal uniparental disomy of chromosome 22 'Maternal uniparental disomy of chromosome 22' SubClassOf 'Uniparental disomy of maternal origin' 'Maternal uniparental disomy of chromosome 22' SubClassOf 'Uniparental disomy of maternal origin' http://www.orpha.net/ORDO/Orphanet_309833 Disorder of other vitamins and cofactors metabolism and transport 'Disorder of other vitamins and cofactors metabolism and transport' SubClassOf 'Disorder of vitamin and non-protein cofactor absorption and transport ' 'Disorder of other vitamins and cofactors metabolism and transport' SubClassOf 'Disorder of vitamin and non-protein cofactor absorption and transport ' http://purl.obolibrary.org/obo/CHEBI_24785 iminodiacetate 'iminodiacetate' SubClassOf 'chemical entity' 'iminodiacetate' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_309830 Disorder of catecholamine synthesis 'Disorder of catecholamine synthesis' SubClassOf 'Disorder of neurotransmitter metabolism and transport' 'Disorder of catecholamine synthesis' SubClassOf 'Disorder of neurotransmitter metabolism and transport' http://www.orpha.net/ORDO/Orphanet_96180 Maternal uniparental disomy of chromosome 4 'Maternal uniparental disomy of chromosome 4' SubClassOf 'Uniparental disomy of maternal origin' 'Maternal uniparental disomy of chromosome 4' SubClassOf 'Uniparental disomy of maternal origin' http://www.orpha.net/ORDO/Orphanet_96181 Maternal uniparental disomy of chromosome 6 'Maternal uniparental disomy of chromosome 6' SubClassOf 'Uniparental disomy of maternal origin' 'Maternal uniparental disomy of chromosome 6' SubClassOf 'Uniparental disomy of maternal origin' http://www.orpha.net/ORDO/Orphanet_309836 Disorder of mineral absorption and transport 'Disorder of mineral absorption and transport' SubClassOf 'Disorder of metabolite absorption and transport' 'Disorder of mineral absorption and transport' SubClassOf 'Disorder of metabolite absorption and transport' http://www.orpha.net/ORDO/Orphanet_96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 'Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7' SubClassOf 'Uniparental disomy of maternal origin' 'Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7' SubClassOf 'Silver-Russell syndrome' 'Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7' SubClassOf 'Uniparental disomy of maternal origin' 'Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7' SubClassOf 'Silver-Russell syndrome' http://www.orpha.net/ORDO/Orphanet_96183 Maternal uniparental disomy of chromosome 9 'Maternal uniparental disomy of chromosome 9' SubClassOf 'Uniparental disomy of maternal origin' 'Maternal uniparental disomy of chromosome 9' SubClassOf 'Uniparental disomy of maternal origin' http://www.orpha.net/ORDO/Orphanet_96184 Maternal uniparental disomy of chromosome 14 'Maternal uniparental disomy of chromosome 14' SubClassOf 'Uniparental disomy of maternal origin' 'Maternal uniparental disomy of chromosome 14' SubClassOf 'Motor developmental delay due to 14q32.2 paternally expressed gene defect' 'Maternal uniparental disomy of chromosome 14' SubClassOf 'Uniparental disomy of maternal origin' 'Maternal uniparental disomy of chromosome 14' SubClassOf 'Motor developmental delay due to 14q32.2 paternally expressed gene defect' http://www.orpha.net/ORDO/Orphanet_2024 Hereditary gingival fibromatosis 'Hereditary gingival fibromatosis' SubClassOf 'Rare odontal or periodontal disorder' 'Hereditary gingival fibromatosis' SubClassOf 'Rare odontal or periodontal disorder' 'Hereditary gingival fibromatosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021147 'Hereditary gingival fibromatosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018488 'Hereditary gingival fibromatosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002507 http://www.orpha.net/ORDO/Orphanet_3355 Trichoodontoonychial dysplasia 'Trichoodontoonychial dysplasia' SubClassOf 'Ectodermal dysplasia syndrome' 'Trichoodontoonychial dysplasia' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Trichoodontoonychial dysplasia' SubClassOf 'Ectodermal dysplasia syndrome' 'Trichoodontoonychial dysplasia' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' http://www.orpha.net/ORDO/Orphanet_3354 Tricho-oculo-dermo-vertebral syndrome 'Tricho-oculo-dermo-vertebral syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Tricho-oculo-dermo-vertebral syndrome' SubClassOf 'Ectodermal dysplasia syndrome' http://www.orpha.net/ORDO/Orphanet_3353 Trichodermodysplasia - dental alterations 'Trichodermodysplasia - dental alterations' SubClassOf 'Ectodermal dysplasia syndrome' 'Trichodermodysplasia - dental alterations' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Trichodermodysplasia - dental alterations' SubClassOf 'Ectodermal dysplasia syndrome' 'Trichodermodysplasia - dental alterations' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' http://www.orpha.net/ORDO/Orphanet_2021 Fibrochondrogenesis 'Fibrochondrogenesis' SubClassOf 'Mesomelic and rhizo-mesomelic dysplasia' 'Fibrochondrogenesis' SubClassOf 'Type 11 collagen-related bone disorder' 'Fibrochondrogenesis' SubClassOf 'osteochondrodysplasia' 'Fibrochondrogenesis' SubClassOf 'Mesomelic and rhizo-mesomelic dysplasia' 'Fibrochondrogenesis' SubClassOf 'Type 11 collagen-related bone disorder' http://www.orpha.net/ORDO/Orphanet_3352 Tricho-dento-osseous syndrome 'Tricho-dento-osseous syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Tricho-dento-osseous syndrome' SubClassOf 'Primary bone dysplasia with increased bone density' 'Tricho-dento-osseous syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Tricho-dento-osseous syndrome' SubClassOf 'Syndromic hair shaft abnormality' 'Tricho-dento-osseous syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Tricho-dento-osseous syndrome' SubClassOf 'Primary bone dysplasia with increased bone density' 'Tricho-dento-osseous syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 'Tricho-dento-osseous syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Tricho-dento-osseous syndrome' SubClassOf 'Syndromic hair shaft abnormality' http://www.orpha.net/ORDO/Orphanet_2020 Congenital fiber-type disproportion myopathy 'Congenital fiber-type disproportion myopathy' SubClassOf 'Qualitative or quantitative defects of tropomyosin' 'Congenital fiber-type disproportion myopathy' SubClassOf 'Congenital myopathy' 'Congenital fiber-type disproportion myopathy' SubClassOf 'Qualitative or quantitative defects of selenoprotein N1' 'Congenital fiber-type disproportion myopathy' SubClassOf 'Qualitative or quantitative defects of alpha-actin' 'Congenital fiber-type disproportion myopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002921 'Congenital fiber-type disproportion myopathy' SubClassOf 'Qualitative or quantitative defects of tropomyosin' 'Congenital fiber-type disproportion myopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000865 'Congenital fiber-type disproportion myopathy' SubClassOf 'Qualitative or quantitative defects of selenoprotein N1' 'Congenital fiber-type disproportion myopathy' SubClassOf 'Qualitative or quantitative defects of alpha-actin' http://www.orpha.net/ORDO/Orphanet_3351 Trichodental syndrome 'Trichodental syndrome' SubClassOf 'Syndromic hair shaft abnormality' 'Trichodental syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Trichodental syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Trichodental syndrome' SubClassOf 'Syndromic hair shaft abnormality' 'Trichodental syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Trichodental syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' http://www.orpha.net/ORDO/Orphanet_295030 Congenital shoulder dislocation 'Congenital shoulder dislocation' SubClassOf 'Congenital joint dislocations' 'Congenital shoulder dislocation' SubClassOf 'Congenital joint dislocations' http://www.orpha.net/ORDO/Orphanet_295034 Congenital knee dislocation 'Congenital knee dislocation' SubClassOf 'Congenital joint dislocations' 'Congenital knee dislocation' SubClassOf 'Congenital joint dislocations' http://www.orpha.net/ORDO/Orphanet_2029 Multiple non-ossifying fibromatosis 'Multiple non-ossifying fibromatosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 http://www.orpha.net/ORDO/Orphanet_295032 Congenital elbow dislocation 'Congenital elbow dislocation' SubClassOf 'Congenital joint dislocations' 'Congenital elbow dislocation' SubClassOf 'Congenital joint dislocations' http://purl.obolibrary.org/obo/CHEBI_74965 1-stearoyl-2-arachidonoyl-sn-glycero-3-phosphocholine '1-stearoyl-2-arachidonoyl-sn-glycero-3-phosphocholine' SubClassOf 'phospholipid' '1-stearoyl-2-arachidonoyl-sn-glycero-3-phosphocholine' SubClassOf 'phospholipid' http://www.orpha.net/ORDO/Orphanet_2028 Juvenile hyaline fibromatosis 'Juvenile hyaline fibromatosis' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Juvenile hyaline fibromatosis' SubClassOf 'Primary osteolysis' 'Juvenile hyaline fibromatosis' SubClassOf 'Soft Tissue Neoplasm' 'Juvenile hyaline fibromatosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0009229 'Juvenile hyaline fibromatosis' SubClassOf 'Genetic skin tumor' 'Juvenile hyaline fibromatosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018798 'Juvenile hyaline fibromatosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002300 'Juvenile hyaline fibromatosis' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Juvenile hyaline fibromatosis' SubClassOf 'Genetic soft tissue tumor' 'Juvenile hyaline fibromatosis' SubClassOf 'bone neoplasm' http://purl.obolibrary.org/obo/CHEBI_35446 polychlorinated biphenyls 'polychlorinated biphenyls' SubClassOf 'has_role' some 'toxin' http://www.orpha.net/ORDO/Orphanet_2027 Gingival fibromatosis - progressive deafness 'Gingival fibromatosis - progressive deafness' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Gingival fibromatosis - progressive deafness' SubClassOf 'Syndromic genetic deafness' 'Gingival fibromatosis - progressive deafness' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Gingival fibromatosis - progressive deafness' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_295038 Patella aplasia/hypoplasia, unilateral 'Patella aplasia/hypoplasia, unilateral' SubClassOf 'Patella aplasia/hypoplasia' 'Patella aplasia/hypoplasia, unilateral' SubClassOf 'Patella aplasia/hypoplasia' http://www.orpha.net/ORDO/Orphanet_2026 Gingival fibromatosis-hypertrichosis syndrome 'Gingival fibromatosis-hypertrichosis syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Gingival fibromatosis-hypertrichosis syndrome' SubClassOf 'Hypertrichosis' 'Gingival fibromatosis-hypertrichosis syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Gingival fibromatosis-hypertrichosis syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Gingival fibromatosis-hypertrichosis syndrome' SubClassOf 'Hypertrichosis' 'Gingival fibromatosis-hypertrichosis syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' http://www.orpha.net/ORDO/Orphanet_3357 Autosomal dominant trichoodontoonychodysplasia-syndactyly 'Autosomal dominant trichoodontoonychodysplasia-syndactyly' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Autosomal dominant trichoodontoonychodysplasia-syndactyly' SubClassOf 'Ectodermal dysplasia syndrome' 'Autosomal dominant trichoodontoonychodysplasia-syndactyly' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Autosomal dominant trichoodontoonychodysplasia-syndactyly' SubClassOf 'Ectodermal dysplasia syndrome' http://www.orpha.net/ORDO/Orphanet_2025 Gingival fibromatosis - facial dysmorphism 'Gingival fibromatosis - facial dysmorphism' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Gingival fibromatosis - facial dysmorphism' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Gingival fibromatosis - facial dysmorphism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Gingival fibromatosis - facial dysmorphism' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Gingival fibromatosis - facial dysmorphism' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' http://www.orpha.net/ORDO/Orphanet_295036 Congenital patella dislocation 'Congenital patella dislocation' SubClassOf 'Congenital joint dislocations' 'Congenital patella dislocation' SubClassOf 'Congenital joint dislocations' http://purl.obolibrary.org/obo/UBERON_0004086 brain ventricle 'brain ventricle' SubClassOf 'part_of' some 'brain' http://www.orpha.net/ORDO/Orphanet_309842 Disorder of iron metabolism and transport 'Disorder of iron metabolism and transport' SubClassOf 'Disorder of mineral absorption and transport' 'Disorder of iron metabolism and transport' SubClassOf 'Disorder of mineral absorption and transport' http://www.orpha.net/ORDO/Orphanet_96190 Paternal uniparental disomy of chromosome 5 'Paternal uniparental disomy of chromosome 5' SubClassOf 'Uniparental disomy of paternal origin' 'Paternal uniparental disomy of chromosome 5' SubClassOf 'Uniparental disomy of paternal origin' http://www.orpha.net/ORDO/Orphanet_96191 Paternal uniparental disomy of chromosome 6 'Paternal uniparental disomy of chromosome 6' SubClassOf 'Uniparental disomy of paternal origin' 'Paternal uniparental disomy of chromosome 6' SubClassOf 'Uniparental disomy of paternal origin' http://www.orpha.net/ORDO/Orphanet_284385 Familial intrahepatic cholestasis 'Familial intrahepatic cholestasis' SubClassOf 'biliary tract disease' 'Familial intrahepatic cholestasis' SubClassOf 'Genetic biliary tract disease' 'Familial intrahepatic cholestasis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019072 'Familial intrahepatic cholestasis' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0019072 and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) 'Familial intrahepatic cholestasis' SubClassOf 'Inborn errors of metabolism' http://www.orpha.net/ORDO/Orphanet_309848 Disorder of magnesium transport 'Disorder of magnesium transport' SubClassOf 'Disorder of mineral absorption and transport' 'Disorder of magnesium transport' SubClassOf 'Disorder of mineral absorption and transport' http://www.orpha.net/ORDO/Orphanet_96192 Paternal uniparental disomy of chromosome 7 'Paternal uniparental disomy of chromosome 7' SubClassOf 'Uniparental disomy of paternal origin' 'Paternal uniparental disomy of chromosome 7' SubClassOf 'Uniparental disomy of paternal origin' http://www.orpha.net/ORDO/Orphanet_96193 Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 'Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11' SubClassOf 'Uniparental disomy of paternal origin' 'Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11' SubClassOf 'Beckwith-Wiedemann syndrome' 'Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019717 'Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11' SubClassOf 'Uniparental disomy of paternal origin' 'Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11' SubClassOf 'Beckwith-Wiedemann syndrome' http://www.orpha.net/ORDO/Orphanet_96194 Paternal uniparental disomy of chromosome 20 'Paternal uniparental disomy of chromosome 20' SubClassOf 'Uniparental disomy of paternal origin' 'Paternal uniparental disomy of chromosome 20' SubClassOf 'Uniparental disomy of paternal origin' http://www.orpha.net/ORDO/Orphanet_309845 Disorder of zinc metabolism 'Disorder of zinc metabolism' SubClassOf 'Disorder of mineral absorption and transport' 'Disorder of zinc metabolism' SubClassOf 'Disorder of mineral absorption and transport' http://www.orpha.net/ORDO/Orphanet_96195 Paternal uniparental disomy of chromosome 21 'Paternal uniparental disomy of chromosome 21' SubClassOf 'Uniparental disomy of paternal origin' 'Paternal uniparental disomy of chromosome 21' SubClassOf 'Uniparental disomy of paternal origin' http://purl.obolibrary.org/obo/CHEBI_12777 vitamin A 'vitamin A' SubClassOf 'has_role' some 'vitamin' http://www.orpha.net/ORDO/Orphanet_309819 Disorder of pterin metabolism 'Disorder of pterin metabolism' SubClassOf 'Disorder of neurotransmitter metabolism and transport' 'Disorder of pterin metabolism' SubClassOf 'Disorder of neurotransmitter metabolism and transport' http://www.orpha.net/ORDO/Orphanet_96121 7q11.23 microduplication syndrome '7q11.23 microduplication syndrome' SubClassOf 'Partial duplication of the long arm of chromosome 7' '7q11.23 microduplication syndrome' SubClassOf 'Partial duplication of the long arm of chromosome 7' http://www.orpha.net/ORDO/Orphanet_98784 Autosomal dominant nocturnal frontal lobe epilepsy 'Autosomal dominant nocturnal frontal lobe epilepsy' SubClassOf 'Familial partial epilepsy' 'Autosomal dominant nocturnal frontal lobe epilepsy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002612 'Autosomal dominant nocturnal frontal lobe epilepsy' SubClassOf 'Familial partial epilepsy' http://www.orpha.net/ORDO/Orphanet_309816 Disorder of bilirubin metabolism and excretion 'Disorder of bilirubin metabolism and excretion' SubClassOf 'Disorder of porphyrin and haem metabolism' 'Disorder of bilirubin metabolism and excretion' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0024431 and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) 'Disorder of bilirubin metabolism and excretion' SubClassOf 'Disorder of porphyrin and haem metabolism' 'Disorder of bilirubin metabolism and excretion' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024431 http://www.orpha.net/ORDO/Orphanet_96123 Monosomy 22 'Monosomy 22' SubClassOf 'Total autosomal monosomy' 'Monosomy 22' SubClassOf 'Total autosomal monosomy' http://www.orpha.net/ORDO/Orphanet_96126 Distal monosomy 7p 'Distal monosomy 7p' SubClassOf 'Partial deletion of the short arm of chromosome 7' 'Distal monosomy 7p' SubClassOf 'Partial deletion of the short arm of chromosome 7' http://www.orpha.net/ORDO/Orphanet_309810 Disorder of peroxisomal alpha-, beta- and omega-oxidation 'Disorder of peroxisomal alpha-, beta- and omega-oxidation' SubClassOf 'Peroxisomal disease' 'Disorder of peroxisomal alpha-, beta- and omega-oxidation' SubClassOf 'Peroxisomal disease' http://purl.obolibrary.org/obo/UBERON_0006676 muscularis mucosa 'muscularis mucosa' SubClassOf 'smooth muscle' 'muscularis mucosa' SubClassOf http://purl.obolibrary.org/obo/UBERON_0004226 'muscularis mucosa' SubClassOf 'part_of' some 'digestive system' 'muscularis mucosa' SubClassOf 'part_of' some 'mucosa' http://www.orpha.net/ORDO/Orphanet_309813 Disorder of porphyrin and haem metabolism 'Disorder of porphyrin and haem metabolism' SubClassOf 'Inborn errors of metabolism' 'Disorder of porphyrin and haem metabolism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0037821 'Disorder of porphyrin and haem metabolism' SubClassOf 'Inborn errors of metabolism' http://www.orpha.net/ORDO/Orphanet_101009 Autosomal dominant spastic paraplegia type 29 'Autosomal dominant spastic paraplegia type 29' SubClassOf 'Autosomal dominant complex spastic paraplegia' 'Autosomal dominant spastic paraplegia type 29' SubClassOf 'Autosomal dominant complex spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_101007 Autosomal recessive spastic paraplegia type 27 'Autosomal recessive spastic paraplegia type 27' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Autosomal recessive spastic paraplegia type 27' SubClassOf 'Autosomal recessive complex spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_101008 Autosomal recessive spastic paraplegia type 28 'Autosomal recessive spastic paraplegia type 28' SubClassOf 'Autosomal recessive pure spastic paraplegia' 'Autosomal recessive spastic paraplegia type 28' SubClassOf 'Autosomal recessive pure spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_101005 Autosomal recessive spastic paraplegia type 25 'Autosomal recessive spastic paraplegia type 25' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Autosomal recessive spastic paraplegia type 25' SubClassOf 'Autosomal recessive complex spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_101006 Autosomal recessive spastic paraplegia type 26 'Autosomal recessive spastic paraplegia type 26' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Autosomal recessive spastic paraplegia type 26' SubClassOf 'Autosomal recessive complex spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_101003 Autosomal recessive spastic paraplegia type 23 'Autosomal recessive spastic paraplegia type 23' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Autosomal recessive spastic paraplegia type 23' SubClassOf 'Autosomal recessive complex spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_101004 Autosomal recessive spastic paraplegia type 24 'Autosomal recessive spastic paraplegia type 24' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Autosomal recessive spastic paraplegia type 24' SubClassOf 'Autosomal recessive complex spastic paraplegia' http://purl.obolibrary.org/obo/CHEBI_35420 pregnenolone sulfate 'pregnenolone sulfate' SubClassOf 'lipid' 'pregnenolone sulfate' SubClassOf 'lipid' http://www.orpha.net/ORDO/Orphanet_96129 Distal monosomy 19p13.3 'Distal monosomy 19p13.3' SubClassOf 'Partial deletion of the short arm of chromosome 19' 'Distal monosomy 19p13.3' SubClassOf 'Partial deletion of the short arm of chromosome 19' http://www.orpha.net/ORDO/Orphanet_357506 Genetic non-syndromic renal or urinary tract malformation 'Genetic non-syndromic renal or urinary tract malformation' SubClassOf 'Genetic renal or urinary tract malformation' 'Genetic non-syndromic renal or urinary tract malformation' SubClassOf 'Genetic renal or urinary tract malformation' 'Genetic non-syndromic renal or urinary tract malformation' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021128 'Genetic non-syndromic renal or urinary tract malformation' EquivalentTo 'Genetic renal or urinary tract malformation' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021128) http://www.orpha.net/ORDO/Orphanet_98793 Prader-Willi syndrome due to paternal 15q11q13 deletion 'Prader-Willi syndrome due to paternal 15q11q13 deletion' SubClassOf 'Partial deletion of the long arm of chromosome 15' 'Prader-Willi syndrome due to paternal 15q11q13 deletion' SubClassOf 'Prader-Willi syndrome' 'Prader-Willi syndrome due to paternal 15q11q13 deletion' SubClassOf 'Partial deletion of the long arm of chromosome 15' 'Prader-Willi syndrome due to paternal 15q11q13 deletion' SubClassOf 'Prader-Willi syndrome' http://purl.obolibrary.org/obo/HP_0008936 Muscular hypotonia of the trunk 'Muscular hypotonia of the trunk' SubClassOf 'muscular hypotonia' 'Muscular hypotonia of the trunk' SubClassOf 'muscular hypotonia' http://purl.obolibrary.org/obo/CHEBI_35418 N-acetylneuraminate 'N-acetylneuraminate' SubClassOf 'chemical entity' 'N-acetylneuraminate' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15 'Angelman syndrome due to paternal uniparental disomy of chromosome 15' SubClassOf 'Uniparental disomy of paternal origin' 'Angelman syndrome due to paternal uniparental disomy of chromosome 15' SubClassOf 'Angelman syndrome' 'Angelman syndrome due to paternal uniparental disomy of chromosome 15' SubClassOf 'Uniparental disomy of paternal origin' 'Angelman syndrome due to paternal uniparental disomy of chromosome 15' SubClassOf 'Angelman syndrome' http://www.orpha.net/ORDO/Orphanet_309827 Disorder of vitamin and non-protein cofactor absorption and transport  'Disorder of vitamin and non-protein cofactor absorption and transport ' SubClassOf 'Disorder of metabolite absorption and transport' 'Disorder of vitamin and non-protein cofactor absorption and transport ' SubClassOf 'participates_in' some (('vitamin metabolic process' and ('has component' some 'abnormal')) or ('vitamin transport' and ('has component' some 'abnormal')) or ('cofactor transport' and ('has component' some 'abnormal')) or ('cofactor metabolic process' and ('has component' some 'abnormal'))) 'Disorder of vitamin and non-protein cofactor absorption and transport ' SubClassOf 'Disorder of metabolite absorption and transport' http://www.orpha.net/ORDO/Orphanet_98794 Angelman syndrome due to maternal 15q11q13 deletion 'Angelman syndrome due to maternal 15q11q13 deletion' SubClassOf 'Angelman syndrome' 'Angelman syndrome due to maternal 15q11q13 deletion' SubClassOf 'Partial deletion of the long arm of chromosome 15' 'Angelman syndrome due to maternal 15q11q13 deletion' SubClassOf 'Angelman syndrome' 'Angelman syndrome due to maternal 15q11q13 deletion' SubClassOf 'Partial deletion of the long arm of chromosome 15' http://www.orpha.net/ORDO/Orphanet_98797 Isochromosomy Yp 'Isochromosomy Yp' SubClassOf 'Isochromosome Y' 'Isochromosomy Yp' SubClassOf 'Isochromosome Y' http://www.orpha.net/ORDO/Orphanet_96136 Non-distal monosomy 7p 'Non-distal monosomy 7p' SubClassOf 'Partial deletion of the short arm of chromosome 7' 'Non-distal monosomy 7p' SubClassOf 'Partial deletion of the short arm of chromosome 7' http://www.orpha.net/ORDO/Orphanet_98798 Isochromosomy Yq 'Isochromosomy Yq' SubClassOf 'Isochromosome Y' 'Isochromosomy Yq' SubClassOf 'Isochromosome Y' http://www.orpha.net/ORDO/Orphanet_284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia 'Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia' SubClassOf 'Autosomal recessive cerebellar ataxia' 'Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia' SubClassOf 'Autosomal recessive cerebellar ataxia' http://purl.obolibrary.org/obo/UBERON_0004026 caudal ganglionic eminence 'caudal ganglionic eminence' SubClassOf 'embryonic structure' 'caudal ganglionic eminence' SubClassOf 'embryonic structure' 'caudal ganglionic eminence' SubClassOf 'part_of' some 'nervous system' http://www.orpha.net/ORDO/Orphanet_309824 Disorder of metabolite absorption and transport 'Disorder of metabolite absorption and transport' SubClassOf 'Inborn errors of metabolism' 'Disorder of metabolite absorption and transport' SubClassOf 'Inborn errors of metabolism' http://www.orpha.net/ORDO/Orphanet_98791 Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16 'Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16' SubClassOf 'Alpha-thalassemia-related diseases' 'Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16' SubClassOf 'Partial deletion of the short arm of chromosome 16' 'Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000577 'Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16' SubClassOf 'Alpha-thalassemia-related diseases' 'Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16' SubClassOf 'Partial deletion of the short arm of chromosome 16' 'Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 http://www.orpha.net/ORDO/Orphanet_285657 Disorder of folate metabolism and transport 'Disorder of folate metabolism and transport' SubClassOf 'Disorder of vitamin and non-protein cofactor absorption and transport ' 'Disorder of folate metabolism and transport' SubClassOf 'Disorder of vitamin and non-protein cofactor absorption and transport ' 'Disorder of folate metabolism and transport' SubClassOf 'participates_in' some (('folic acid transport' and ('has component' some 'abnormal')) or ('folic acid metabolic process' and ('has component' some 'abnormal'))) http://www.orpha.net/ORDO/Orphanet_3307 Tetrasomy 18p 'Tetrasomy 18p' SubClassOf 'Partial trisomy/tetrasomy of the short arm of chromosome 18' 'Tetrasomy 18p' SubClassOf http://purl.obolibrary.org/obo/MONDO_0030502 'Tetrasomy 18p' SubClassOf 'Partial trisomy/tetrasomy of the short arm of chromosome 18' http://www.orpha.net/ORDO/Orphanet_3306 Duplication/inversion 15q11 'Duplication/inversion 15q11' SubClassOf 'Rare disease with autism' 'Duplication/inversion 15q11' SubClassOf 'Complex chromosomal rearrangement' 'Duplication/inversion 15q11' SubClassOf 'Rare disease with autism' 'Duplication/inversion 15q11' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015652 'Duplication/inversion 15q11' SubClassOf 'Complex chromosomal rearrangement' http://www.orpha.net/ORDO/Orphanet_3305 Tetraploidy 'Tetraploidy' SubClassOf 'Polyploidy' 'Tetraploidy' SubClassOf 'Polyploidy' http://www.orpha.net/ORDO/Orphanet_3304 Fallot complex - intellectual disability - growth delay 'Fallot complex - intellectual disability - growth delay' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Fallot complex - intellectual disability - growth delay' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Fallot complex - intellectual disability - growth delay' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Fallot complex - intellectual disability - growth delay' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_3301 Tetraamelia - multiple malformations 'Tetraamelia - multiple malformations' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Tetraamelia - multiple malformations' SubClassOf 'Genetic syndrome with limb reduction defects' 'Tetraamelia - multiple malformations' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' 'Tetraamelia - multiple malformations' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Tetraamelia - multiple malformations' SubClassOf 'Genetic syndrome with limb reduction defects' http://purl.obolibrary.org/obo/UBERON_0005363 inferior vagus X ganglion 'inferior vagus X ganglion' SubClassOf 'cranial ganglion' 'inferior vagus X ganglion' SubClassOf 'cranial ganglion' 'inferior vagus X ganglion' SubClassOf http://purl.obolibrary.org/obo/UBERON_0005362 http://purl.obolibrary.org/obo/HP_0008947 Infantile muscular hypotonia 'Infantile muscular hypotonia' SubClassOf 'muscular hypotonia' 'Infantile muscular hypotonia' SubClassOf 'muscular hypotonia' http://www.orpha.net/ORDO/Orphanet_96145 Distal monosomy 4q 'Distal monosomy 4q' SubClassOf 'Partial deletion of the long arm of chromosome 4' 'Distal monosomy 4q' SubClassOf 'Partial deletion of the long arm of chromosome 4' http://www.orpha.net/ORDO/Orphanet_96147 Kleefstra syndrome due to 9q34 microdeletion 'Kleefstra syndrome due to 9q34 microdeletion' SubClassOf 'Partial monosomy of the long arm of chromosome 9' 'Kleefstra syndrome due to 9q34 microdeletion' SubClassOf 'Kleefstra syndrome' 'Kleefstra syndrome due to 9q34 microdeletion' SubClassOf 'Partial monosomy of the long arm of chromosome 9' 'Kleefstra syndrome due to 9q34 microdeletion' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015652 'Kleefstra syndrome due to 9q34 microdeletion' SubClassOf 'Kleefstra syndrome' http://www.orpha.net/ORDO/Orphanet_284332 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia 'Infantile-onset autosomal recessive nonprogressive cerebellar ataxia' SubClassOf 'Autosomal recessive cerebellar ataxia' 'Infantile-onset autosomal recessive nonprogressive cerebellar ataxia' SubClassOf 'Autosomal recessive cerebellar ataxia' http://purl.obolibrary.org/obo/UBERON_0005366 olfactory lobe 'olfactory lobe' SubClassOf 'part_of' some 'telencephalon' http://www.orpha.net/ORDO/Orphanet_3310 Tetrasomy 9p 'Tetrasomy 9p' SubClassOf 'Partial trisomy of the short arm of chromosome 9' 'Tetrasomy 9p' SubClassOf 'Partial trisomy of the short arm of chromosome 9' 'Tetrasomy 9p' SubClassOf http://purl.obolibrary.org/obo/MONDO_0030502 http://www.orpha.net/ORDO/Orphanet_284339 Pontocerebellar hypoplasia type 7 'Pontocerebellar hypoplasia type 7' SubClassOf 'Non-syndromic pontocerebellar hypoplasia' 'Pontocerebellar hypoplasia type 7' SubClassOf 'Non-syndromic pontocerebellar hypoplasia' http://www.orpha.net/ORDO/Orphanet_3319 Congenital amegakaryocytic thrombocytopenia 'Congenital amegakaryocytic thrombocytopenia' SubClassOf 'Rare hemorrhagic disorder due to a constitutional thrombocytopenia' 'Congenital amegakaryocytic thrombocytopenia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018796 'Congenital amegakaryocytic thrombocytopenia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001713 http://www.orpha.net/ORDO/Orphanet_96149 Distal monosomy 12q 'Distal monosomy 12q' SubClassOf 'Partial deletion of the long arm of chromosome 12' 'Distal monosomy 12q' SubClassOf 'Partial deletion of the long arm of chromosome 12' http://www.orpha.net/ORDO/Orphanet_3317 Thoracolaryngopelvic dysplasia 'Thoracolaryngopelvic dysplasia' SubClassOf 'Genetic respiratory malformation' 'Thoracolaryngopelvic dysplasia' SubClassOf 'Short rib dysplasia' 'Thoracolaryngopelvic dysplasia' SubClassOf 'Genetic respiratory malformation' 'Thoracolaryngopelvic dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015929 'Thoracolaryngopelvic dysplasia' SubClassOf 'Short rib dysplasia' http://www.orpha.net/ORDO/Orphanet_3316 Thomas syndrome 'Thomas syndrome' SubClassOf 'Rare syndrome with cardiac malformations' 'Thomas syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Thomas syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Thomas syndrome' SubClassOf 'Orofacial clefting syndrome' 'Thomas syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 'Thomas syndrome' SubClassOf 'Rare syndrome with cardiac malformations' 'Thomas syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Thomas syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Thomas syndrome' SubClassOf 'Orofacial clefting syndrome' http://www.orpha.net/ORDO/Orphanet_3315 Thiopurine S-methyltransferase deficiency 'Thiopurine S-methyltransferase deficiency' SubClassOf 'Inborn errors of metabolism' 'Thiopurine S-methyltransferase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044976 'Thiopurine S-methyltransferase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000210 http://www.orpha.net/ORDO/Orphanet_3314 Thiemann disease, familial form 'Thiemann disease, familial form' SubClassOf 'Osteochondrosis of genetic origin' 'Thiemann disease, familial form' SubClassOf 'Osteochondrosis of genetic origin' http://www.orpha.net/ORDO/Orphanet_96152 Distal monosomy 20q 'Distal monosomy 20q' SubClassOf 'Partial deletion of the long arm of chromosome 20' 'Distal monosomy 20q' SubClassOf 'Partial deletion of the long arm of chromosome 20' http://www.orpha.net/ORDO/Orphanet_3309 Tetrasomy 5p 'Tetrasomy 5p' SubClassOf http://purl.obolibrary.org/obo/MONDO_0030502 'Tetrasomy 5p' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020226 'Tetrasomy 5p' SubClassOf 'Partial trisomy/tetrasomy of the short arm of chromosome 5' http://www.orpha.net/ORDO/Orphanet_309803 Rhizomelic chondrodysplasia punctata type 3 'Rhizomelic chondrodysplasia punctata type 3' SubClassOf 'Rhizomelic chondrodysplasia punctata' 'Rhizomelic chondrodysplasia punctata type 3' SubClassOf 'Rhizomelic chondrodysplasia punctata' http://www.orpha.net/ORDO/Orphanet_96150 Distal monosomy 14q 'Distal monosomy 14q' SubClassOf 'Partial deletion of the long arm of chromosome 14' 'Distal monosomy 14q' SubClassOf 'Partial deletion of the long arm of chromosome 14' http://www.orpha.net/ORDO/Orphanet_261629 Alagille syndrome due to a NOTCH2 point mutation 'Alagille syndrome due to a NOTCH2 point mutation' SubClassOf 'Alagille syndrome' 'Alagille syndrome due to a NOTCH2 point mutation' SubClassOf 'Alagille syndrome' http://purl.obolibrary.org/obo/CLO_0014942 GM17119 'GM17119' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17119' SubClassOf 'cultured cell' 'GM17119' SubClassOf 'has_quality' some 'female' http://purl.obolibrary.org/obo/CLO_0014943 GM17113 'GM17113' SubClassOf 'has_quality' some 'female' 'GM17113' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17113' SubClassOf 'cultured cell' http://purl.obolibrary.org/obo/CLO_0014945 GM17114 'GM17114' SubClassOf 'has_quality' some 'male' 'GM17114' SubClassOf 'cultured cell' 'GM17114' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://www.orpha.net/ORDO/Orphanet_250972 Polymicrogyria with optic nerve hypoplasia 'Polymicrogyria with optic nerve hypoplasia' SubClassOf 'Genetic syndrome with a central nervous system malformation as major feature' 'Polymicrogyria with optic nerve hypoplasia' SubClassOf 'Syndromic optic nerve hypoplasia' 'Polymicrogyria with optic nerve hypoplasia' SubClassOf 'Cerebral malformation with epilepsy' 'Polymicrogyria with optic nerve hypoplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018609 'Polymicrogyria with optic nerve hypoplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017120 'Polymicrogyria with optic nerve hypoplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000904 'Polymicrogyria with optic nerve hypoplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Polymicrogyria with optic nerve hypoplasia' SubClassOf 'Syndromic optic nerve hypoplasia' http://www.orpha.net/ORDO/Orphanet_262959 Partial trisomy of the long arm of chromosome 16 'Partial trisomy of the long arm of chromosome 16' SubClassOf 'Partial duplication of chromosome 16' 'Partial trisomy of the long arm of chromosome 16' SubClassOf 'Partial duplication of chromosome 16' http://www.orpha.net/ORDO/Orphanet_199282 Harlequin syndrome 'Harlequin syndrome' SubClassOf 'autonomic nervous system disease' 'Harlequin syndrome' SubClassOf 'autonomic nervous system disease' 'Harlequin syndrome' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://www.orpha.net/ORDO/Orphanet_199285 Hereditary hypercarotenemia and vitamin A deficiency 'Hereditary hypercarotenemia and vitamin A deficiency' SubClassOf 'Disorder of other vitamins and cofactors metabolism and transport' 'Hereditary hypercarotenemia and vitamin A deficiency' SubClassOf 'participates_in' some (('vitamin A metabolic process' and ('has component' some 'abnormal')) and ('carotene metabolic process' and ('has component' some 'abnormal'))) 'Hereditary hypercarotenemia and vitamin A deficiency' SubClassOf 'Disorder of other vitamins and cofactors metabolism and transport' http://www.orpha.net/ORDO/Orphanet_209047 Qualitative or quantitative defects of filamin C 'Qualitative or quantitative defects of filamin C' SubClassOf 'Qualitative or quantitative defects of myofibrillar proteins' 'Qualitative or quantitative defects of filamin C' SubClassOf 'Qualitative or quantitative defects of myofibrillar proteins' http://www.orpha.net/ORDO/Orphanet_209044 Qualitative or quantitative defects of alphaB-cristallin 'Qualitative or quantitative defects of alphaB-cristallin' SubClassOf 'Qualitative or quantitative defects of myofibrillar proteins' 'Qualitative or quantitative defects of alphaB-cristallin' SubClassOf 'Qualitative or quantitative defects of myofibrillar proteins' http://www.orpha.net/ORDO/Orphanet_209041 Qualitative or quantitative defects of desmin 'Qualitative or quantitative defects of desmin' SubClassOf 'Qualitative or quantitative defects of myofibrillar proteins' 'Qualitative or quantitative defects of desmin' SubClassOf 'Qualitative or quantitative defects of myofibrillar proteins' http://purl.obolibrary.org/obo/CLO_0014950 GM17117 'GM17117' SubClassOf 'has_quality' some 'male' 'GM17117' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17117' SubClassOf 'cultured cell' http://purl.obolibrary.org/obo/CLO_0014951 GM17118 'GM17118' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17118' SubClassOf 'cultured cell' 'GM17118' SubClassOf 'has_quality' some 'female' http://purl.obolibrary.org/obo/CLO_0014952 GM17115 'GM17115' SubClassOf 'has_quality' some 'male' 'GM17115' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17115' SubClassOf 'cultured cell' http://purl.obolibrary.org/obo/CHEBI_73699 Val-Gly 'Val-Gly' SubClassOf 'amide' 'Val-Gly' SubClassOf 'amide' http://purl.obolibrary.org/obo/CLO_0014953 GM17116 'GM17116' SubClassOf 'has_quality' some 'female' 'GM17116' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17116' SubClassOf 'cultured cell' http://www.orpha.net/ORDO/Orphanet_209059 Qualitative or quantitative defects of alpha-actin 'Qualitative or quantitative defects of alpha-actin' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' 'Qualitative or quantitative defects of alpha-actin' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' http://www.orpha.net/ORDO/Orphanet_250984 Autosomal recessive Stickler syndrome 'Autosomal recessive Stickler syndrome' SubClassOf 'Stickler syndrome' 'Autosomal recessive Stickler syndrome' SubClassOf 'Multiple epiphyseal dysplasia and pseudoachondroplasia' 'Autosomal recessive Stickler syndrome' SubClassOf 'autosomal recessive disease' 'Autosomal recessive Stickler syndrome' SubClassOf 'Stickler syndrome' 'Autosomal recessive Stickler syndrome' SubClassOf 'Multiple epiphyseal dysplasia and pseudoachondroplasia' http://purl.obolibrary.org/obo/CHEBI_36711 phosphoethanolamine 'phosphoethanolamine' SubClassOf 'phosphate' 'phosphoethanolamine' SubClassOf 'phosphate' http://www.orpha.net/ORDO/Orphanet_261619 Alagille syndrome due to a JAG1 point mutation 'Alagille syndrome due to a JAG1 point mutation' SubClassOf 'Alagille syndrome' 'Alagille syndrome due to a JAG1 point mutation' SubClassOf 'Alagille syndrome' http://www.orpha.net/ORDO/Orphanet_209050 Qualitative or quantitative defects of protein ZASP 'Qualitative or quantitative defects of protein ZASP' SubClassOf 'Qualitative or quantitative defects of myofibrillar proteins' 'Qualitative or quantitative defects of protein ZASP' SubClassOf 'Qualitative or quantitative defects of myofibrillar proteins' http://www.orpha.net/ORDO/Orphanet_262950 Partial duplication of the long arm of chromosome 15 'Partial duplication of the long arm of chromosome 15' SubClassOf 'Partial autosomal trisomy/tetrasomy' 'Partial duplication of the long arm of chromosome 15' SubClassOf 'Partial autosomal trisomy/tetrasomy' http://www.orpha.net/ORDO/Orphanet_199276 Familial multiple lipomatosis 'Familial multiple lipomatosis' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Familial multiple lipomatosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000652 'Familial multiple lipomatosis' SubClassOf 'skin neoplasm' 'Familial multiple lipomatosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019296 'Familial multiple lipomatosis' SubClassOf 'lipoma' http://purl.obolibrary.org/obo/CLO_0014947 GM17111 'GM17111' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17111' SubClassOf 'cultured cell' 'GM17111' SubClassOf 'has_quality' some 'male' http://purl.obolibrary.org/obo/CLO_0014948 GM17112 'GM17112' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17112' SubClassOf 'has_quality' some 'female' 'GM17112' SubClassOf 'cultured cell' http://www.orpha.net/ORDO/Orphanet_199279 Familial angiolipomatosis 'Familial angiolipomatosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019296 'Familial angiolipomatosis' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://www.orpha.net/ORDO/Orphanet_250977 AICA-ribosiduria 'AICA-ribosiduria' SubClassOf 'Genetic macular dystrophy' 'AICA-ribosiduria' SubClassOf 'Disorder of purine metabolism' 'AICA-ribosiduria' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'AICA-ribosiduria' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'AICA-ribosiduria' SubClassOf 'Genetic macular dystrophy' 'AICA-ribosiduria' SubClassOf 'Developmental anomaly of metabolic origin' 'AICA-ribosiduria' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'AICA-ribosiduria' SubClassOf 'Disorder of purine metabolism' 'AICA-ribosiduria' SubClassOf 'Syndromic neurometabolic disease with non-X-linked intellectual disability' 'AICA-ribosiduria' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_209056 Qualitative or quantitative defects of telethonin 'Qualitative or quantitative defects of telethonin' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' 'Qualitative or quantitative defects of telethonin' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' http://www.orpha.net/ORDO/Orphanet_209053 Qualitative or quantitative defects of titin 'Qualitative or quantitative defects of titin' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' 'Qualitative or quantitative defects of titin' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' http://www.orpha.net/ORDO/Orphanet_261600 Alagille syndrome due to 20p12 microdeletion 'Alagille syndrome due to 20p12 microdeletion' SubClassOf 'Partial monosomy of the short arm of chromosome 20' 'Alagille syndrome due to 20p12 microdeletion' SubClassOf 'Alagille syndrome' 'Alagille syndrome due to 20p12 microdeletion' SubClassOf 'Partial monosomy of the short arm of chromosome 20' 'Alagille syndrome due to 20p12 microdeletion' SubClassOf 'Alagille syndrome' http://www.orpha.net/ORDO/Orphanet_262932 Partial duplication of the long arm of chromosome 13 'Partial duplication of the long arm of chromosome 13' SubClassOf 'Partial autosomal trisomy/tetrasomy' 'Partial duplication of the long arm of chromosome 13' SubClassOf 'Partial autosomal trisomy/tetrasomy' http://purl.obolibrary.org/obo/CHEBI_11424 2,3-dihydroxy-3-methylbutanoate '2,3-dihydroxy-3-methylbutanoate' SubClassOf 'chemical entity' '2,3-dihydroxy-3-methylbutanoate' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_262941 Partial duplication of the long arm of chromosome 14 'Partial duplication of the long arm of chromosome 14' SubClassOf 'Partial autosomal trisomy/tetrasomy' 'Partial duplication of the long arm of chromosome 14' SubClassOf 'Partial autosomal trisomy/tetrasomy' http://www.orpha.net/ORDO/Orphanet_262923 Partial duplication of the long arm of chromosome 11 'Partial duplication of the long arm of chromosome 11' SubClassOf 'Partial duplication of chromosome 11' 'Partial duplication of the long arm of chromosome 11' SubClassOf 'Partial duplication of chromosome 11' http://purl.obolibrary.org/obo/CHEBI_83041 10-undecenoate '10-undecenoate' SubClassOf 'lipid' '10-undecenoate' SubClassOf 'lipid' http://purl.obolibrary.org/obo/CHEBI_83040 epiandrosterone sulfate 'epiandrosterone sulfate' SubClassOf 'steroid' 'epiandrosterone sulfate' SubClassOf 'steroid' http://purl.obolibrary.org/obo/CHEBI_83036 7alpha-hydroxy-3-oxo-4-cholestenoic acid '7alpha-hydroxy-3-oxo-4-cholestenoic acid' SubClassOf 'lipid' '7alpha-hydroxy-3-oxo-4-cholestenoic acid' SubClassOf 'lipid' http://purl.obolibrary.org/obo/CHEBI_83037 androsterone sulfate 'androsterone sulfate' SubClassOf 'steroid' 'androsterone sulfate' SubClassOf 'steroid' http://purl.obolibrary.org/obo/CHEBI_83052 10-nonadecenoate '10-nonadecenoate' SubClassOf 'lipid' '10-nonadecenoate' SubClassOf 'lipid' http://purl.obolibrary.org/obo/CHEBI_83047 1-stearoyl-sn-glycero-3-phosphoethanolamine '1-stearoyl-sn-glycero-3-phosphoethanolamine' SubClassOf 'phospholipid' '1-stearoyl-sn-glycero-3-phosphoethanolamine' SubClassOf 'phospholipid' http://purl.obolibrary.org/obo/CHEBI_83046 5-dodecenoate '5-dodecenoate' SubClassOf 'lipid' '5-dodecenoate' SubClassOf 'lipid' http://www.orpha.net/ORDO/Orphanet_199241 Pulmonary capillary hemangiomatosis 'Pulmonary capillary hemangiomatosis' SubClassOf 'Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis' 'Pulmonary capillary hemangiomatosis' SubClassOf 'Pulmonary venoocclusive disease' http://www.orpha.net/ORDO/Orphanet_199247 Corticosteroid-binding globulin deficiency 'Corticosteroid-binding globulin deficiency' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Corticosteroid-binding globulin deficiency' SubClassOf 'adrenal gland disease' http://www.orpha.net/ORDO/Orphanet_50809 Talo-patello-scaphoid osteolysis 'Talo-patello-scaphoid osteolysis' SubClassOf 'Primary osteolysis' 'Talo-patello-scaphoid osteolysis' SubClassOf 'Primary osteolysis' http://www.orpha.net/ORDO/Orphanet_262986 Partial duplication of the long arm of chromosome 19 'Partial duplication of the long arm of chromosome 19' SubClassOf 'Partial duplication of chromosome 19' 'Partial duplication of the long arm of chromosome 19' SubClassOf 'Partial duplication of chromosome 19' http://purl.obolibrary.org/obo/CHEBI_83058 1-linoleoyl-sn-glycero-3-phosphoethanolamine '1-linoleoyl-sn-glycero-3-phosphoethanolamine' SubClassOf 'phospholipid' '1-linoleoyl-sn-glycero-3-phosphoethanolamine' SubClassOf 'phospholipid' http://www.orpha.net/ORDO/Orphanet_262995 Partial trisomy of the long arm of chromosome 20 'Partial trisomy of the long arm of chromosome 20' SubClassOf 'Partial trisomy of chromosome 20' 'Partial trisomy of the long arm of chromosome 20' SubClassOf 'Partial trisomy of chromosome 20' http://www.orpha.net/ORDO/Orphanet_247378 Autosomal recessive secondary polycythemia not associated with VHL gene 'Autosomal recessive secondary polycythemia not associated with VHL gene' SubClassOf 'Congenital secondary polycythemia' 'Autosomal recessive secondary polycythemia not associated with VHL gene' SubClassOf 'Congenital secondary polycythemia' http://www.orpha.net/ORDO/Orphanet_49827 Thiamine-responsive megaloblastic anemia syndrome 'Thiamine-responsive megaloblastic anemia syndrome' SubClassOf 'Syndromic genetic deafness' 'Thiamine-responsive megaloblastic anemia syndrome' SubClassOf 'Disorder of thiamine metabolism and transport' 'Thiamine-responsive megaloblastic anemia syndrome' SubClassOf 'Vitamin B12- and folate-independent constitutional megaloblastic anemia' 'Thiamine-responsive megaloblastic anemia syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000577 'Thiamine-responsive megaloblastic anemia syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015888 'Thiamine-responsive megaloblastic anemia syndrome' SubClassOf 'Syndromic genetic deafness' 'Thiamine-responsive megaloblastic anemia syndrome' SubClassOf 'autosomal recessive disease' 'Thiamine-responsive megaloblastic anemia syndrome' SubClassOf 'Vitamin B12- and folate-independent constitutional megaloblastic anemia' 'Thiamine-responsive megaloblastic anemia syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000152 'Thiamine-responsive megaloblastic anemia syndrome' SubClassOf 'Developmental anomaly of metabolic origin' http://www.ebi.ac.uk/efo/EFO_0008510 Lyme disease 'Lyme disease' SubClassOf 'Borrelia infectious disease' 'Lyme disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000314 'Lyme disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016104 'Lyme disease' SubClassOf 'Borrelia infectious disease' 'Lyme disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0025294 http://www.ebi.ac.uk/efo/EFO_0008511 metopic craniosynostosis 'metopic craniosynostosis' SubClassOf 'Craniosynostosis' 'metopic craniosynostosis' SubClassOf 'Craniosynostosis' http://www.ebi.ac.uk/efo/EFO_0008512 micropapillary urothelial carcinoma 'micropapillary urothelial carcinoma' SubClassOf 'bladder transitional cell carcinoma' 'micropapillary urothelial carcinoma' SubClassOf 'bladder transitional cell carcinoma' http://purl.obolibrary.org/obo/CLO_0014964 GM17110 'GM17110' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17110' SubClassOf 'has_quality' some 'female' 'GM17110' SubClassOf 'cultured cell' http://www.orpha.net/ORDO/Orphanet_261647 Okihiro syndrome due to a point mutation 'Okihiro syndrome due to a point mutation' SubClassOf 'Okihiro syndrome' 'Okihiro syndrome due to a point mutation' SubClassOf 'Okihiro syndrome' http://www.orpha.net/ORDO/Orphanet_250994 1q21.1 microduplication syndrome '1q21.1 microduplication syndrome' SubClassOf 'Partial duplication of the long arm of chromosome 1' '1q21.1 microduplication syndrome' SubClassOf 'Partial duplication of the long arm of chromosome 1' '1q21.1 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000762 http://www.ebi.ac.uk/efo/EFO_0008517 oral lichen planus 'oral lichen planus' SubClassOf 'lichen planus' 'oral lichen planus' SubClassOf 'lichen planus' http://www.ebi.ac.uk/efo/EFO_0008518 polymyalgia rheumatica 'polymyalgia rheumatica' SubClassOf 'myopathy' 'polymyalgia rheumatica' SubClassOf 'rheumatic disease' 'polymyalgia rheumatica' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'polymyalgia rheumatica' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'polymyalgia rheumatica' SubClassOf 'myopathy' http://www.ebi.ac.uk/efo/EFO_0008519 primary hyperparathyroidism 'primary hyperparathyroidism' SubClassOf 'hyperparathyroidism' 'primary hyperparathyroidism' SubClassOf 'hyperparathyroidism' http://www.orpha.net/ORDO/Orphanet_262977 Partial trisomy of the long arm of chromosome 18 'Partial trisomy of the long arm of chromosome 18' SubClassOf 'Partial trisomy/tetrasomy of chromosome 18' 'Partial trisomy of the long arm of chromosome 18' SubClassOf 'Partial trisomy/tetrasomy of chromosome 18' http://www.ebi.ac.uk/efo/EFO_0008513 morphologic finding 'morphologic finding' SubClassOf 'sign or symptom' 'morphologic finding' SubClassOf 'sign or symptom' http://www.ebi.ac.uk/efo/EFO_0008514 neurofibromatosis 'neurofibromatosis' SubClassOf 'genetic disorder' 'neurofibromatosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0042983 'neurofibromatosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016756 'neurofibromatosis' SubClassOf 'genetic disorder' 'neurofibromatosis' SubClassOf 'Inherited cancer-predisposing syndrome' 'neurofibromatosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 'neurofibromatosis' SubClassOf 'Rare genetic neurological disorder' http://www.ebi.ac.uk/efo/EFO_0008515 nodular melanoma 'nodular melanoma' SubClassOf 'cutaneous melanoma' 'nodular melanoma' SubClassOf 'cutaneous melanoma' http://www.ebi.ac.uk/efo/EFO_0008516 non-functioning pituitary adenoma 'non-functioning pituitary adenoma' SubClassOf 'Pituitary Gland Adenoma' 'non-functioning pituitary adenoma' SubClassOf 'Pituitary Gland Adenoma' 'non-functioning pituitary adenoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003603 http://www.orpha.net/ORDO/Orphanet_261652 Kleefstra syndrome due to a point mutation 'Kleefstra syndrome due to a point mutation' SubClassOf 'Kleefstra syndrome' 'Kleefstra syndrome due to a point mutation' SubClassOf 'Kleefstra syndrome' http://purl.obolibrary.org/obo/BTO_0000256 myoblast cell line 'myoblast cell line' EquivalentTo 'derives_from' some ('myoblast' and ('part_of' some ('organism part' and ('part_of' some 'organism')))) 'myoblast cell line' SubClassOf 'derives_from' some 'myoblast' http://www.orpha.net/ORDO/Orphanet_250989 1q21.1 microdeletion syndrome '1q21.1 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 1' '1q21.1 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000761 '1q21.1 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 1' http://www.ebi.ac.uk/efo/EFO_0008500 ductal breast hyperplasia 'ductal breast hyperplasia' SubClassOf 'breast hyperplasia' 'ductal breast hyperplasia' SubClassOf 'breast hyperplasia' http://www.orpha.net/ORDO/Orphanet_261638 Okihiro syndrome due to 20q13 microdeletion 'Okihiro syndrome due to 20q13 microdeletion' SubClassOf 'Partial deletion of the long arm of chromosome 20' 'Okihiro syndrome due to 20q13 microdeletion' SubClassOf 'Okihiro syndrome' 'Okihiro syndrome due to 20q13 microdeletion' SubClassOf 'Partial deletion of the long arm of chromosome 20' 'Okihiro syndrome due to 20q13 microdeletion' SubClassOf 'Okihiro syndrome' http://www.ebi.ac.uk/efo/EFO_0008501 dysplasia 'dysplasia' SubClassOf 'neoplasm' 'dysplasia' SubClassOf 'neoplasm' http://www.orpha.net/ORDO/Orphanet_260305 Autosomal recessive sideroblastic anemia 'Autosomal recessive sideroblastic anemia' SubClassOf 'Constitutional sideroblastic anemia' 'Autosomal recessive sideroblastic anemia' SubClassOf 'Constitutional sideroblastic anemia' 'Autosomal recessive sideroblastic anemia' SubClassOf 'autosomal recessive disease' http://www.orpha.net/ORDO/Orphanet_308552 Glycogen storage disease due to acid maltase deficiency, infantile onset 'Glycogen storage disease due to acid maltase deficiency, infantile onset' SubClassOf 'Glycogen storage disease due to acid maltase deficiency' 'Glycogen storage disease due to acid maltase deficiency, infantile onset' SubClassOf 'Glycogen storage disease due to acid maltase deficiency' http://www.ebi.ac.uk/efo/EFO_0008506 hyperparathyroidism 'hyperparathyroidism' SubClassOf 'parathyroid disease' 'hyperparathyroidism' SubClassOf 'parathyroid disease' http://www.ebi.ac.uk/efo/EFO_0008507 interstitial cystitis 'interstitial cystitis' SubClassOf 'cystitis' 'interstitial cystitis' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'interstitial cystitis' SubClassOf 'chronic cystitis' 'interstitial cystitis' SubClassOf 'connective tissue disease' 'interstitial cystitis' SubClassOf 'cystitis' http://www.ebi.ac.uk/efo/EFO_0008508 large cell medulloblastoma 'large cell medulloblastoma' SubClassOf 'medulloblastoma' 'large cell medulloblastoma' SubClassOf 'medulloblastoma' http://purl.obolibrary.org/obo/CHEBI_1712 3alpha-hydroxy-5beta-pregnan-20-one '3alpha-hydroxy-5beta-pregnan-20-one' SubClassOf 'chemical entity' '3alpha-hydroxy-5beta-pregnan-20-one' SubClassOf 'chemical entity' http://www.ebi.ac.uk/efo/EFO_0008509 lobular breast carcinoma 'lobular breast carcinoma' SubClassOf 'breast carcinoma' 'lobular breast carcinoma' SubClassOf 'breast carcinoma' 'lobular breast carcinoma' SubClassOf 'breast adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0008502 gastric non-cardia carcinoma 'gastric non-cardia carcinoma' SubClassOf 'gastric carcinoma' 'gastric non-cardia carcinoma' SubClassOf 'gastric carcinoma' http://www.orpha.net/ORDO/Orphanet_262968 Partial duplication of the long arm of chromosome 17 'Partial duplication of the long arm of chromosome 17' SubClassOf 'Partial duplication of chromosome 17' 'Partial duplication of the long arm of chromosome 17' SubClassOf 'Partial duplication of chromosome 17' http://www.ebi.ac.uk/efo/EFO_0008503 hepatitis B virus induced hepatocellular carcinoma 'hepatitis B virus induced hepatocellular carcinoma' SubClassOf 'hepatitis virus-related hepatocellular carcinoma' 'hepatitis B virus induced hepatocellular carcinoma' SubClassOf 'hepatitis virus-related hepatocellular carcinoma' http://www.ebi.ac.uk/efo/EFO_0008504 hepatitis C virus induced hepatocellular carcinoma 'hepatitis C virus induced hepatocellular carcinoma' SubClassOf 'hepatitis virus-related hepatocellular carcinoma' 'hepatitis C virus induced hepatocellular carcinoma' SubClassOf 'hepatitis virus-related hepatocellular carcinoma' http://www.ebi.ac.uk/efo/EFO_0008505 hepatitis virus-related hepatocellular carcinoma 'hepatitis virus-related hepatocellular carcinoma' SubClassOf 'hepatocellular carcinoma' 'hepatitis virus-related hepatocellular carcinoma' SubClassOf 'hepatocellular carcinoma' http://www.orpha.net/ORDO/Orphanet_247353 Generalized pustular psoriasis 'Generalized pustular psoriasis' SubClassOf 'Other genetic epidermal disease' 'Generalized pustular psoriasis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019274 'Generalized pustular psoriasis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0013626 'Generalized pustular psoriasis' SubClassOf 'Other genetic epidermal disease' http://www.ebi.ac.uk/efo/EFO_0008410 susceptibility to pneumonia measurement 'susceptibility to pneumonia measurement' SubClassOf 'is_about' some 'infection' 'susceptibility to pneumonia measurement' SubClassOf 'is_about' some 'pneumonia' http://www.ebi.ac.uk/efo/EFO_0009741 experimental scientist 'experimental scientist' SubClassOf 'inheres_in' some 'organization' 'experimental scientist' SubClassOf 'inheres_in' some 'Homo sapiens' http://www.orpha.net/ORDO/Orphanet_139491 Hemochromatosis type 4 'Hemochromatosis type 4' SubClassOf http://purl.obolibrary.org/obo/MONDO_0006507 'Hemochromatosis type 4' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://www.ebi.ac.uk/efo/EFO_0008411 susceptibility to bacterial meningitis measurement 'susceptibility to bacterial meningitis measurement' SubClassOf 'is_about' some 'infection' 'susceptibility to bacterial meningitis measurement' SubClassOf 'is_about' some 'bacterial meningitis' http://www.ebi.ac.uk/efo/EFO_0009742 computational scientist 'computational scientist' SubClassOf 'inheres_in' some 'organization' 'computational scientist' SubClassOf 'inheres_in' some 'Homo sapiens' http://www.orpha.net/ORDO/Orphanet_140481 Autosomal dominant slowed nerve conduction velocity 'Autosomal dominant slowed nerve conduction velocity' SubClassOf 'Autosomal dominant hereditary demyelinating motor and sensory neuropathy' 'Autosomal dominant slowed nerve conduction velocity' SubClassOf 'Autosomal dominant hereditary demyelinating motor and sensory neuropathy' http://www.ebi.ac.uk/efo/EFO_0008412 susceptibility to vaginal yeast infection measurement 'susceptibility to vaginal yeast infection measurement' SubClassOf 'is_about' some 'vulvovaginal candidiasis' 'susceptibility to vaginal yeast infection measurement' SubClassOf 'is_about' some 'infection' http://www.ebi.ac.uk/efo/EFO_0009743 administrator 'administrator' SubClassOf 'inheres_in' some 'organization' 'administrator' SubClassOf 'inheres_in' some 'Homo sapiens' http://www.ebi.ac.uk/efo/EFO_0008413 susceptibility to urinary tract infection measurement 'susceptibility to urinary tract infection measurement' SubClassOf 'is_about' some 'urinary tract infection' 'susceptibility to urinary tract infection measurement' SubClassOf 'is_about' some 'infection' http://www.ebi.ac.uk/efo/EFO_0009740 clinician 'clinician' SubClassOf 'inheres_in' some 'Homo sapiens' 'clinician' SubClassOf 'inheres_in' some 'organization' http://www.ebi.ac.uk/efo/EFO_0008418 susceptibility to rubella infection measurement 'susceptibility to rubella infection measurement' SubClassOf 'is_about' some 'infection' 'susceptibility to rubella infection measurement' SubClassOf 'is_about' some 'rubella' http://www.ebi.ac.uk/efo/EFO_0009749 age at first sexual intercourse measurement 'age at first sexual intercourse measurement' SubClassOf 'reproductive behaviour measurement' 'age at first sexual intercourse measurement' SubClassOf 'reproductive behaviour measurement' http://www.ebi.ac.uk/efo/EFO_0008419 susceptibility to chronic sinus infection measurement 'susceptibility to chronic sinus infection measurement' SubClassOf 'is_about' some 'infection' 'susceptibility to chronic sinus infection measurement' SubClassOf 'is_about' some 'sinusitis' http://www.orpha.net/ORDO/Orphanet_404448 ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder 'ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 'ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 http://www.ebi.ac.uk/efo/EFO_0008414 susceptibility to measles measurement 'susceptibility to measles measurement' SubClassOf 'is_about' some 'infection' 'susceptibility to measles measurement' SubClassOf 'is_about' some 'measles' http://www.orpha.net/ORDO/Orphanet_404443 Tall stature-intellectual disability-facial dysmorphism syndrome 'Tall stature-intellectual disability-facial dysmorphism syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Tall stature-intellectual disability-facial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Tall stature-intellectual disability-facial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Tall stature-intellectual disability-facial dysmorphism syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.ebi.ac.uk/efo/EFO_0008415 susceptibility to hepatitis A infection measurement 'susceptibility to hepatitis A infection measurement' SubClassOf 'is_about' some 'infection' 'susceptibility to hepatitis A infection measurement' SubClassOf 'is_about' some 'hepatitis A' 'susceptibility to hepatitis A infection measurement' SubClassOf 'liver disease biomarker' http://www.ebi.ac.uk/efo/EFO_0008416 susceptibility to rheumatic fever measurement 'susceptibility to rheumatic fever measurement' SubClassOf 'infectious disease biomarker' 'susceptibility to rheumatic fever measurement' SubClassOf 'is_about' some 'rheumatic fever' 'susceptibility to rheumatic fever measurement' SubClassOf 'is_about' some 'infection' http://www.ebi.ac.uk/efo/EFO_0009747 GM25256 'GM25256' SubClassOf 'has_quality' some 'male' 'GM25256' SubClassOf 'derives_from' some ('induced pluripotent stem cell' and ('part_of' some ('skin of body' and (('part_of' some 'Homo sapiens') and ('part_of' some 'leg'))))) http://www.ebi.ac.uk/efo/EFO_0008417 susceptibility to common cold measurement 'susceptibility to common cold measurement' SubClassOf 'is_about' some 'infection' 'susceptibility to common cold measurement' SubClassOf 'is_about' some 'common cold' http://www.ebi.ac.uk/efo/EFO_0009748 response to ketamine 'response to ketamine' SubClassOf 'response to drug' 'response to ketamine' SubClassOf 'response to drug' 'response to ketamine' SubClassOf 'has_input' some 'ketamine' http://www.orpha.net/ORDO/Orphanet_404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 'Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 'Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.ebi.ac.uk/efo/EFO_0009730 polyarticular juvenile idiopathic arthritis 'polyarticular juvenile idiopathic arthritis' SubClassOf 'juvenile idiopathic arthritis' 'polyarticular juvenile idiopathic arthritis' SubClassOf 'juvenile idiopathic arthritis' http://www.ebi.ac.uk/efo/EFO_0008400 susceptibility to chickenpox measurement 'susceptibility to chickenpox measurement' SubClassOf 'is_about' some 'infection' 'susceptibility to chickenpox measurement' SubClassOf 'is_about' some 'chickenpox' http://www.ebi.ac.uk/efo/EFO_0009731 polyarticular juvenile idiopathic arthritis, rheumatoid factor positive 'polyarticular juvenile idiopathic arthritis, rheumatoid factor positive' SubClassOf 'polyarticular juvenile idiopathic arthritis' 'polyarticular juvenile idiopathic arthritis, rheumatoid factor positive' SubClassOf 'polyarticular juvenile idiopathic arthritis' http://www.ebi.ac.uk/efo/EFO_0008401 susceptibility to shingles measurement 'susceptibility to shingles measurement' SubClassOf 'is_about' some 'infection' 'susceptibility to shingles measurement' SubClassOf 'is_about' some 'Herpes Zoster' http://www.ebi.ac.uk/efo/EFO_0009732 enthesitis-related juvenile idiopathic arthritis 'enthesitis-related juvenile idiopathic arthritis' SubClassOf 'juvenile idiopathic arthritis' 'enthesitis-related juvenile idiopathic arthritis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017259 'enthesitis-related juvenile idiopathic arthritis' SubClassOf 'juvenile idiopathic arthritis' 'enthesitis-related juvenile idiopathic arthritis' SubClassOf 'disease has feature' some http://purl.obolibrary.org/obo/MONDO_0024419 http://www.ebi.ac.uk/efo/EFO_0008402 susceptibility to cold sores measurement 'susceptibility to cold sores measurement' SubClassOf 'is_about' some 'Herpes simplex infection' 'susceptibility to cold sores measurement' SubClassOf 'is_about' some 'infection' http://www.ebi.ac.uk/efo/EFO_0009733 psoriasis-related juvenile idiopathic arthritis 'psoriasis-related juvenile idiopathic arthritis' SubClassOf 'juvenile idiopathic arthritis' 'psoriasis-related juvenile idiopathic arthritis' SubClassOf 'psoriatic arthritis' 'psoriasis-related juvenile idiopathic arthritis' SubClassOf 'juvenile idiopathic arthritis' http://purl.obolibrary.org/obo/GO_0030168 platelet activation 'platelet activation' SubClassOf 'part_of' some 'blood coagulation' http://www.ebi.ac.uk/efo/EFO_0008407 susceptibility to Mycobacterium tuberculosis infection measurement 'susceptibility to Mycobacterium tuberculosis infection measurement' SubClassOf 'is_about' some 'infection' 'susceptibility to Mycobacterium tuberculosis infection measurement' SubClassOf 'is_about' some 'Tuberculosis' http://www.ebi.ac.uk/efo/EFO_0009738 pathologist 'pathologist' SubClassOf 'inheres_in' some 'organization' 'pathologist' SubClassOf 'inheres_in' some 'Homo sapiens' http://www.ebi.ac.uk/efo/EFO_0008408 susceptibility to strep throat measurement 'susceptibility to strep throat measurement' SubClassOf 'is_about' some 'streptococcal pharyngitis' 'susceptibility to strep throat measurement' SubClassOf 'is_about' some 'infection' http://www.ebi.ac.uk/efo/EFO_0009739 technician 'technician' SubClassOf 'inheres_in' some 'Homo sapiens' 'technician' SubClassOf 'inheres_in' some 'organization' http://www.orpha.net/ORDO/Orphanet_404437 Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome 'Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome' SubClassOf 'Cerebral malformation with epilepsy' 'Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome' SubClassOf 'Syndrome with microcephaly as major feature' 'Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome' SubClassOf 'Cerebral malformation with epilepsy' 'Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome' SubClassOf 'Syndrome with microcephaly as major feature' http://www.ebi.ac.uk/efo/EFO_0008409 susceptibility to scarlet fever measurement 'susceptibility to scarlet fever measurement' SubClassOf 'infectious disease biomarker' 'susceptibility to scarlet fever measurement' SubClassOf 'is_about' some 'infection' 'susceptibility to scarlet fever measurement' SubClassOf 'is_about' some 'scarlet fever' http://www.ebi.ac.uk/efo/EFO_0008403 susceptibility to mononucleosis measurement 'susceptibility to mononucleosis measurement' SubClassOf 'is_about' some 'infection' 'susceptibility to mononucleosis measurement' SubClassOf 'is_about' some 'infectious mononucleosis' http://www.ebi.ac.uk/efo/EFO_0009734 unspecified juvenile idiopathic arthritis 'unspecified juvenile idiopathic arthritis' SubClassOf 'juvenile idiopathic arthritis' 'unspecified juvenile idiopathic arthritis' SubClassOf 'juvenile idiopathic arthritis' http://www.ebi.ac.uk/efo/EFO_0008404 susceptibility to mumps measurement 'susceptibility to mumps measurement' SubClassOf 'is_about' some 'Mumps virus infectious disease' 'susceptibility to mumps measurement' SubClassOf 'is_about' some 'infection' http://www.ebi.ac.uk/efo/EFO_0008405 susceptibility to hepatitis B infection measurement 'susceptibility to hepatitis B infection measurement' SubClassOf 'liver disease biomarker' 'susceptibility to hepatitis B infection measurement' SubClassOf 'is_about' some 'infection' 'susceptibility to hepatitis B infection measurement' SubClassOf 'is_about' some 'hepatitis B infection' http://www.orpha.net/ORDO/Orphanet_37612 Episodic ataxia type 1 'Episodic ataxia type 1' SubClassOf 'Hereditary episodic ataxia' 'Episodic ataxia type 1' SubClassOf 'Hereditary episodic ataxia' 'Episodic ataxia type 1' SubClassOf 'Genetic peripheral neuropathy' http://www.ebi.ac.uk/efo/EFO_0008406 susceptibility to plantar warts measurement 'susceptibility to plantar warts measurement' SubClassOf 'is_about' some 'infection' 'susceptibility to plantar warts measurement' SubClassOf 'is_about' some 'plantar wart' http://www.ebi.ac.uk/efo/EFO_0007100 iPS-11b 'iPS-11b' SubClassOf 'has_quality' some 'male' 'iPS-11b' SubClassOf 'derives_from' some ('induced pluripotent stem cell' and ('part_of' some ('zone of skin' and ('part_of' some 'Homo sapiens')))) 'iPS-11b' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0008432 lipoprotein-associated phospholipase A(2) change measurement 'lipoprotein-associated phospholipase A(2) change measurement' SubClassOf 'cardiovascular disease biomarker measurement' 'lipoprotein-associated phospholipase A(2) change measurement' SubClassOf 'cardiovascular disease biomarker measurement' 'lipoprotein-associated phospholipase A(2) change measurement' SubClassOf 'is_about' some 'cardiovascular system' 'lipoprotein-associated phospholipase A(2) change measurement' SubClassOf 'is_about' some 'cardiovascular disease' http://www.ebi.ac.uk/efo/EFO_0008433 pursuit maintenance gain measurement 'pursuit maintenance gain measurement' SubClassOf 'eye movement measurement' 'pursuit maintenance gain measurement' SubClassOf 'is_about' some 'mental or behavioural disorder' 'pursuit maintenance gain measurement' SubClassOf 'eye movement measurement' 'pursuit maintenance gain measurement' SubClassOf 'is_about' some 'eye' 'pursuit maintenance gain measurement' SubClassOf 'is_about' some 'psychomotor performance' http://www.ebi.ac.uk/efo/EFO_0008434 initial pursuit acceleration 'initial pursuit acceleration' SubClassOf 'eye movement measurement' 'initial pursuit acceleration' SubClassOf 'is_about' some 'mental or behavioural disorder' 'initial pursuit acceleration' SubClassOf 'eye movement measurement' 'initial pursuit acceleration' SubClassOf 'is_about' some 'psychomotor performance' 'initial pursuit acceleration' SubClassOf 'is_about' some 'eye' http://www.ebi.ac.uk/efo/EFO_0008435 gestational weight gain measurement 'gestational weight gain measurement' SubClassOf 'measurement' 'gestational weight gain measurement' SubClassOf 'measurement' http://www.ebi.ac.uk/efo/EFO_0007104 iPS-17b 'iPS-17b' SubClassOf 'has_quality' some 'female' 'iPS-17b' SubClassOf 'derives_from' some ('induced pluripotent stem cell' and ('part_of' some ('zone of skin' and ('part_of' some 'Homo sapiens')))) 'iPS-17b' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0007103 iPS-17a 'iPS-17a' SubClassOf 'cultured cell' 'iPS-17a' SubClassOf 'derives_from' some ('induced pluripotent stem cell' and ('part_of' some ('zone of skin' and ('part_of' some 'Homo sapiens')))) 'iPS-17a' SubClassOf 'has_quality' some 'female' http://www.ebi.ac.uk/efo/EFO_0007102 iPS-15b 'iPS-15b' SubClassOf 'has_quality' some 'female' 'iPS-15b' SubClassOf 'cultured cell' 'iPS-15b' SubClassOf 'derives_from' some ('induced pluripotent stem cell' and ('part_of' some ('zone of skin' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0008430 IgG monosialylation measurement 'IgG monosialylation measurement' SubClassOf 'serum IgG glycosylation measurement' 'IgG monosialylation measurement' SubClassOf 'is_about' some 'polysaccharide' 'IgG monosialylation measurement' SubClassOf 'serum IgG glycosylation measurement' 'IgG monosialylation measurement' SubClassOf 'is_about' some 'protein N-linked glycosylation' http://www.ebi.ac.uk/efo/EFO_0007101 iPS-11c 'iPS-11c' SubClassOf 'has_quality' some 'male' 'iPS-11c' SubClassOf 'derives_from' some ('induced pluripotent stem cell' and ('part_of' some ('zone of skin' and ('part_of' some 'Homo sapiens')))) 'iPS-11c' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0008431 maximal voluntary ventilation 'maximal voluntary ventilation' SubClassOf 'pulmonary function measurement' 'maximal voluntary ventilation' SubClassOf 'is_about' some 'Abnormality of the respiratory system' 'maximal voluntary ventilation' SubClassOf 'pulmonary function measurement' 'maximal voluntary ventilation' SubClassOf 'is_about' some 'lung' http://www.ebi.ac.uk/efo/EFO_0007108 iPS-20b 'iPS-20b' SubClassOf 'derives_from' some ('induced pluripotent stem cell' and ('part_of' some ('zone of skin' and ('part_of' some 'Homo sapiens')))) 'iPS-20b' SubClassOf 'cultured cell' 'iPS-20b' SubClassOf 'has_quality' some 'male' http://www.ebi.ac.uk/efo/EFO_0007107 iPS-18c 'iPS-18c' SubClassOf 'has_quality' some 'female' 'iPS-18c' SubClassOf 'cultured cell' 'iPS-18c' SubClassOf 'derives_from' some ('induced pluripotent stem cell' and ('part_of' some ('zone of skin' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0007106 iPS-18b 'iPS-18b' SubClassOf 'derives_from' some ('induced pluripotent stem cell' and ('part_of' some ('zone of skin' and ('part_of' some 'Homo sapiens')))) 'iPS-18b' SubClassOf 'has_quality' some 'female' 'iPS-18b' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0007105 iPS-18a 'iPS-18a' SubClassOf 'derives_from' some ('induced pluripotent stem cell' and ('part_of' some ('zone of skin' and ('part_of' some 'Homo sapiens')))) 'iPS-18a' SubClassOf 'has_quality' some 'female' 'iPS-18a' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0008436 late gestational weight gain 'late gestational weight gain' SubClassOf 'gestational weight gain measurement' 'late gestational weight gain' SubClassOf 'gestational weight gain measurement' http://www.ebi.ac.uk/efo/EFO_0008437 early gestational weight gain 'early gestational weight gain' SubClassOf 'gestational weight gain measurement' 'early gestational weight gain' SubClassOf 'gestational weight gain measurement' http://www.ebi.ac.uk/efo/EFO_0008438 growth hormone measurement 'growth hormone measurement' SubClassOf 'hormone measurement' 'growth hormone measurement' SubClassOf 'is_about' some 'endocrine system' 'growth hormone measurement' SubClassOf 'has_role' some 'growth hormone' 'growth hormone measurement' SubClassOf 'is_about' some 'hormone' 'growth hormone measurement' SubClassOf 'hormone measurement' http://www.ebi.ac.uk/efo/EFO_0007109 iPS-27b 'iPS-27b' SubClassOf 'cultured cell' 'iPS-27b' SubClassOf 'has_quality' some 'female' 'iPS-27b' SubClassOf 'derives_from' some ('induced pluripotent stem cell' and ('part_of' some ('zone of skin' and ('part_of' some 'Homo sapiens')))) 'iPS-27b' SubClassOf 'bearer_of' some 'amyotrophic lateral sclerosis' http://purl.obolibrary.org/obo/UBERON_2000422 retroarticular 'retroarticular' SubClassOf http://purl.obolibrary.org/obo/UBERON_0004768 'retroarticular' SubClassOf http://purl.obolibrary.org/obo/UBERON_0002513 http://purl.obolibrary.org/obo/UBERON_2000425 anterior lateral line nerve 'anterior lateral line nerve' SubClassOf http://purl.obolibrary.org/obo/UBERON_0008906 http://www.ebi.ac.uk/efo/EFO_0008421 non-alcoholic fatty liver disease severity measurement 'non-alcoholic fatty liver disease severity measurement' SubClassOf 'measurement' 'non-alcoholic fatty liver disease severity measurement' SubClassOf 'is_about' some 'liver' 'non-alcoholic fatty liver disease severity measurement' SubClassOf 'is_about' some 'non-alcoholic fatty liver disease' http://purl.obolibrary.org/obo/GO_0042170 plastid membrane 'plastid membrane' SubClassOf 'part_of' some 'plastid envelope' http://www.ebi.ac.uk/efo/EFO_0008423 IgG monogalactosylation measurement 'IgG monogalactosylation measurement' SubClassOf 'serum IgG glycosylation measurement' 'IgG monogalactosylation measurement' SubClassOf 'serum IgG glycosylation measurement' 'IgG monogalactosylation measurement' SubClassOf 'is_about' some 'protein N-linked glycosylation' 'IgG monogalactosylation measurement' SubClassOf 'is_about' some 'polysaccharide' http://www.ebi.ac.uk/efo/EFO_0008424 IgG digalactosylation measurement 'IgG digalactosylation measurement' SubClassOf 'serum IgG glycosylation measurement' 'IgG digalactosylation measurement' SubClassOf 'is_about' some 'protein N-linked glycosylation' 'IgG digalactosylation measurement' SubClassOf 'is_about' some 'polysaccharide' 'IgG digalactosylation measurement' SubClassOf 'serum IgG glycosylation measurement' http://www.ebi.ac.uk/efo/EFO_0009750 dissociation measurement 'dissociation measurement' SubClassOf 'psychological measurement' 'dissociation measurement' SubClassOf 'psychological measurement' http://www.ebi.ac.uk/efo/EFO_0008420 parietal cortex measurement 'parietal cortex measurement' SubClassOf 'brain volume measurement' 'parietal cortex measurement' SubClassOf 'is_about' some 'brain' 'parietal cortex measurement' SubClassOf 'brain volume measurement' 'parietal cortex measurement' SubClassOf 'is_about' some 'cognition' 'parietal cortex measurement' SubClassOf 'is_about' some 'schizophrenia' http://www.ebi.ac.uk/efo/EFO_0009751 facial asymmetry measurement 'facial asymmetry measurement' SubClassOf 'measurement' 'facial asymmetry measurement' SubClassOf 'measurement' http://www.ebi.ac.uk/efo/EFO_0008429 IgG disialylation measurement 'IgG disialylation measurement' SubClassOf 'serum IgG glycosylation measurement' 'IgG disialylation measurement' SubClassOf 'is_about' some 'polysaccharide' 'IgG disialylation measurement' SubClassOf 'serum IgG glycosylation measurement' 'IgG disialylation measurement' SubClassOf 'is_about' some 'protein N-linked glycosylation' http://www.ebi.ac.uk/efo/EFO_0008425 IgG galactosylation measurement 'IgG galactosylation measurement' SubClassOf 'serum IgG glycosylation measurement' 'IgG galactosylation measurement' SubClassOf 'is_about' some 'polysaccharide' 'IgG galactosylation measurement' SubClassOf 'is_about' some 'protein N-linked glycosylation' 'IgG galactosylation measurement' SubClassOf 'serum IgG glycosylation measurement' http://www.ebi.ac.uk/efo/EFO_0008426 IgG bisecting N-acetyl glucosamine measurement 'IgG bisecting N-acetyl glucosamine measurement' SubClassOf 'serum IgG glycosylation measurement' 'IgG bisecting N-acetyl glucosamine measurement' SubClassOf 'serum IgG glycosylation measurement' 'IgG bisecting N-acetyl glucosamine measurement' SubClassOf 'is_about' some 'protein N-linked glycosylation' 'IgG bisecting N-acetyl glucosamine measurement' SubClassOf 'is_about' some 'polysaccharide' http://www.ebi.ac.uk/efo/EFO_0008427 IgG fucosylation measurement 'IgG fucosylation measurement' SubClassOf 'serum IgG glycosylation measurement' 'IgG fucosylation measurement' SubClassOf 'is_about' some 'polysaccharide' 'IgG fucosylation measurement' SubClassOf 'serum IgG glycosylation measurement' 'IgG fucosylation measurement' SubClassOf 'is_about' some 'protein N-linked glycosylation' http://www.ebi.ac.uk/efo/EFO_0008428 IgG sialylation measurement 'IgG sialylation measurement' SubClassOf 'serum IgG glycosylation measurement' 'IgG sialylation measurement' SubClassOf 'is_about' some 'protein N-linked glycosylation' 'IgG sialylation measurement' SubClassOf 'serum IgG glycosylation measurement' 'IgG sialylation measurement' SubClassOf 'is_about' some 'polysaccharide' http://purl.obolibrary.org/obo/UBERON_2000414 presumptive cephalic mesoderm 'presumptive cephalic mesoderm' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_2000419 pterosphenoid 'pterosphenoid' SubClassOf http://purl.obolibrary.org/obo/UBERON_0011164 'pterosphenoid' SubClassOf http://purl.obolibrary.org/obo/UBERON_0002513 http://www.ebi.ac.uk/efo/EFO_0008454 short physical performance battery score measurement 'short physical performance battery score measurement' SubClassOf 'measurement' 'short physical performance battery score measurement' SubClassOf 'measurement' http://www.ebi.ac.uk/efo/EFO_0008455 sleep apnea measurement during REM sleep 'sleep apnea measurement during REM sleep' SubClassOf 'is_about' some 'circadian sleep/wake cycle, REM sleep' http://www.ebi.ac.uk/efo/EFO_0008456 sleep apnea measurement during non-REM sleep 'sleep apnea measurement during non-REM sleep' SubClassOf 'is_about' some 'circadian sleep/wake cycle, non-REM sleep' http://www.ebi.ac.uk/efo/EFO_0008457 cannabis dependence measurement 'cannabis dependence measurement' SubClassOf 'mental or behavioural disorder biomarker' 'cannabis dependence measurement' SubClassOf 'is_about' some 'cannabinoid' 'cannabis dependence measurement' SubClassOf 'mental or behavioural disorder biomarker' 'cannabis dependence measurement' SubClassOf 'is_about' some 'cannabis dependence' http://www.orpha.net/ORDO/Orphanet_139450 Microtia - eye coloboma - imperforation of the nasolacrimal duct 'Microtia - eye coloboma - imperforation of the nasolacrimal duct' SubClassOf 'Syndromic developmental defect of the eye' 'Microtia - eye coloboma - imperforation of the nasolacrimal duct' SubClassOf 'Rare eye disease due to a differentiation anomaly' 'Microtia - eye coloboma - imperforation of the nasolacrimal duct' SubClassOf 'Syndromic developmental defect of the eye' 'Microtia - eye coloboma - imperforation of the nasolacrimal duct' SubClassOf 'Rare eye disease due to a differentiation anomaly' http://www.ebi.ac.uk/efo/EFO_0007126 Acanthamoeba keratitis 'Acanthamoeba keratitis' SubClassOf 'parasitic infection' 'Acanthamoeba keratitis' SubClassOf 'keratitis' 'Acanthamoeba keratitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002428 'Acanthamoeba keratitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024315 'Acanthamoeba keratitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023865 'Acanthamoeba keratitis' SubClassOf 'has_disease_location' some ('cornea' or ('part_of' some 'cornea')) 'Acanthamoeba keratitis' SubClassOf 'parasitic infection' 'Acanthamoeba keratitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021747 http://www.ebi.ac.uk/efo/EFO_0008450 fractional excretion of magnesium measurement 'fractional excretion of magnesium measurement' SubClassOf 'measurement' 'fractional excretion of magnesium measurement' SubClassOf 'is_about' some 'magnesium ion homeostasis' 'fractional excretion of magnesium measurement' SubClassOf 'is_about' some 'kidney' 'fractional excretion of magnesium measurement' SubClassOf 'is_about' some 'magnesium' 'fractional excretion of magnesium measurement' SubClassOf 'measurement' http://www.ebi.ac.uk/efo/EFO_0007125 lachrymal gland lesion 'lachrymal gland lesion' SubClassOf 'has part' some ('quality' and ('has component' some 'abnormal') and ('inheres in part of' some 'lacrimal gland')) http://www.ebi.ac.uk/efo/EFO_0008451 activities of daily living score measurement 'activities of daily living score measurement' SubClassOf 'measurement' 'activities of daily living score measurement' SubClassOf 'measurement' http://www.ebi.ac.uk/efo/EFO_0007124 salivary gland lesion 'salivary gland lesion' SubClassOf 'has part' some ('quality' and ('has component' some 'abnormal') and ('inheres in part of' some 'saliva-secreting gland')) http://www.ebi.ac.uk/efo/EFO_0008452 mid-arm muscle circumference measurement 'mid-arm muscle circumference measurement' SubClassOf 'muscle measurement' 'mid-arm muscle circumference measurement' SubClassOf 'muscle measurement' http://www.ebi.ac.uk/efo/EFO_0008453 calf circumference measurement 'calf circumference measurement' SubClassOf 'muscle measurement' 'calf circumference measurement' SubClassOf 'muscle measurement' http://www.ebi.ac.uk/efo/EFO_0007129 acute chest syndrome 'acute chest syndrome' SubClassOf 'lung disease' 'acute chest syndrome' SubClassOf 'lung disease' 'acute chest syndrome' SubClassOf http://purl.obolibrary.org/obo/RO_0004022 some 'Sickle cell anemia' 'acute chest syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 http://www.ebi.ac.uk/efo/EFO_0007128 actinomycosis 'actinomycosis' SubClassOf 'bacterial disease' 'actinomycosis' SubClassOf 'primary Actinomycetales infectious disease' 'actinomycosis' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'actinomycosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000315 'actinomycosis' SubClassOf 'bacterial disease' http://www.ebi.ac.uk/efo/EFO_0007127 actinobacillosis 'actinobacillosis' SubClassOf 'bacterial disease' 'actinobacillosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000315 'actinobacillosis' SubClassOf 'animal disease' 'actinobacillosis' SubClassOf 'Actinobacillus infectious disease' 'actinobacillosis' SubClassOf 'bacterial disease' http://www.ebi.ac.uk/efo/EFO_0008458 tacrolimus measurement 'tacrolimus measurement' SubClassOf 'is_about' some 'immunosuppressive agent' http://www.orpha.net/ORDO/Orphanet_262914 Partial duplication of the long arm of chromosome 10 'Partial duplication of the long arm of chromosome 10' SubClassOf 'Partial duplication of chromosome 10' 'Partial duplication of the long arm of chromosome 10' SubClassOf 'Partial duplication of chromosome 10' http://www.orpha.net/ORDO/Orphanet_404481 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome' SubClassOf 'Autosomal recessive cerebellar ataxia' 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome' SubClassOf 'Monogenic disease with epilepsy' 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome' SubClassOf 'Autosomal recessive cerebellar ataxia' 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome' SubClassOf 'Monogenic disease with epilepsy' http://www.orpha.net/ORDO/Orphanet_140436 Primary intraosseous vascular malformation 'Primary intraosseous vascular malformation' SubClassOf 'Congenital vascular bone syndrome' 'Primary intraosseous vascular malformation' SubClassOf 'Congenital vascular bone syndrome' 'Primary intraosseous vascular malformation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000631 'Primary intraosseous vascular malformation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016223 'Primary intraosseous vascular malformation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024499 http://www.orpha.net/ORDO/Orphanet_139455 Autosomal recessive bestrophinopathy 'Autosomal recessive bestrophinopathy' SubClassOf 'Retinal dystrophy' 'Autosomal recessive bestrophinopathy' SubClassOf 'Retinal dystrophy' 'Autosomal recessive bestrophinopathy' SubClassOf 'macular degeneration' http://www.orpha.net/ORDO/Orphanet_250923 Isolated aniridia 'Isolated aniridia' SubClassOf 'Aniridia' 'Isolated aniridia' SubClassOf 'Non-syndromic developmental defect of the eye' 'Isolated aniridia' EquivalentTo 'Aniridia' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021128) 'Isolated aniridia' SubClassOf 'Aniridia' 'Isolated aniridia' SubClassOf 'Non-syndromic developmental defect of the eye' http://www.ebi.ac.uk/efo/EFO_0007111 iPS-5 'iPS-5' SubClassOf 'derives_from' some ('induced pluripotent stem cell' and ('part_of' some ('zone of skin' and ('part_of' some 'Homo sapiens')))) 'iPS-5' SubClassOf 'cultured cell' 'iPS-5' SubClassOf 'has_quality' some 'male' http://www.ebi.ac.uk/efo/EFO_0007110 iPS-27e 'iPS-27e' SubClassOf 'has_quality' some 'female' 'iPS-27e' SubClassOf 'bearer_of' some 'amyotrophic lateral sclerosis' 'iPS-27e' SubClassOf 'derives_from' some ('induced pluripotent stem cell' and ('part_of' some ('zone of skin' and ('part_of' some 'Homo sapiens')))) 'iPS-27e' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0008446 platelet-to-lymphocyte ratio 'platelet-to-lymphocyte ratio' SubClassOf 'hematological measurement' 'platelet-to-lymphocyte ratio' SubClassOf 'hematological measurement' 'platelet-to-lymphocyte ratio' SubClassOf 'is_about' some 'blood' http://www.ebi.ac.uk/efo/EFO_0007115 NC-NC 'NC-NC' SubClassOf 'derives_from' some ('lymphoblastoid cell line' and ('part_of' some ('blood' and ('part_of' some 'Homo sapiens')))) 'NC-NC' SubClassOf 'cultured cell' 'NC-NC' SubClassOf 'has_quality' some 'female' 'NC-NC' SubClassOf 'bearer_of' some 'Epstein-Barr virus infection' http://www.ebi.ac.uk/efo/EFO_0007114 ML-DmD23-c4 'ML-DmD23-c4' SubClassOf 'derives_from' some ('embryonic cell line' and ('part_of' some ('wing disc' and ('part_of' some 'Drosophila melanogaster')))) 'ML-DmD23-c4' SubClassOf 'has_quality' some 'male' 'ML-DmD23-c4' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0007113 ML-DmD23 'ML-DmD23' SubClassOf 'cultured cell' 'ML-DmD23' SubClassOf 'derives_from' some ('embryonic cell line' and ('part_of' some ('wing disc' and ('part_of' some 'Drosophila melanogaster')))) 'ML-DmD23' SubClassOf 'has_quality' some 'male' http://www.ebi.ac.uk/efo/EFO_0007112 Loucy 'Loucy' SubClassOf 'has_quality' some 'female' 'Loucy' SubClassOf 'derives_from' some ('T cell' and ('part_of' some ('blood' and ('part_of' some 'Homo sapiens')))) 'Loucy' SubClassOf 'cultured cell' 'Loucy' SubClassOf 'bearer_of' some 'T-cell acute lymphoblastic leukemia' http://purl.obolibrary.org/obo/CLO_0013823 GM17198 'GM17198' SubClassOf 'cultured cell' 'GM17198' SubClassOf 'has_quality' some 'female' 'GM17198' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0007119 Sasang constitutional medicine type 'Sasang constitutional medicine type' SubClassOf 'is_about' some 'Sasang constitutional medicine' http://www.orpha.net/ORDO/Orphanet_140456 Autosomal dominant hereditary axonal motor and sensory neuropathy 'Autosomal dominant hereditary axonal motor and sensory neuropathy' SubClassOf 'Hereditary motor and sensory neuropathy' 'Autosomal dominant hereditary axonal motor and sensory neuropathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018775 http://www.ebi.ac.uk/efo/EFO_0007117 carotid artery intima media thickness 'carotid artery intima media thickness' SubClassOf 'is_about' some 'blood vessel' 'carotid artery intima media thickness' SubClassOf 'is_about' some 'carotid artery' http://www.orpha.net/ORDO/Orphanet_140453 Autosomal dominant hereditary demyelinating motor and sensory neuropathy 'Autosomal dominant hereditary demyelinating motor and sensory neuropathy' SubClassOf 'Hereditary motor and sensory neuropathy' 'Autosomal dominant hereditary demyelinating motor and sensory neuropathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018776 http://www.ebi.ac.uk/efo/EFO_0007116 UCSF4 'UCSF4' SubClassOf 'has_quality' some 'female' 'UCSF4' SubClassOf 'cultured cell' 'UCSF4' SubClassOf 'derives_from' some ('embryonic stem cell' and ('part_of' some ('blastocyst' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0008447 neutrophil-to-lymphocyte ratio 'neutrophil-to-lymphocyte ratio' SubClassOf 'hematological measurement' 'neutrophil-to-lymphocyte ratio' SubClassOf 'hematological measurement' 'neutrophil-to-lymphocyte ratio' SubClassOf 'is_about' some 'blood' http://www.orpha.net/ORDO/Orphanet_404476 Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome 'Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome' SubClassOf 'Overgrowth syndrome' 'Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome' SubClassOf 'Overgrowth syndrome' 'Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome' SubClassOf 'Inherited renal cancer-predisposing syndrome' http://www.ebi.ac.uk/efo/EFO_0008449 magnesium:creatinine ratio measurement 'magnesium:creatinine ratio measurement' SubClassOf 'measurement' 'magnesium:creatinine ratio measurement' SubClassOf 'is_about' some 'magnesium ion homeostasis' 'magnesium:creatinine ratio measurement' SubClassOf 'is_about' some 'magnesium' 'magnesium:creatinine ratio measurement' SubClassOf 'is_about' some 'kidney' 'magnesium:creatinine ratio measurement' SubClassOf 'measurement' http://www.orpha.net/ORDO/Orphanet_140450 Hereditary motor and sensory neuropathy 'Hereditary motor and sensory neuropathy' SubClassOf 'Genetic peripheral neuropathy' 'Hereditary motor and sensory neuropathy' SubClassOf 'motor neuron disease' 'Hereditary motor and sensory neuropathy' SubClassOf 'Genetic peripheral neuropathy' 'Hereditary motor and sensory neuropathy' SubClassOf 'Genetic motor neuron disease' 'Hereditary motor and sensory neuropathy' SubClassOf 'has_disease_location' some 'motor neuron' http://www.orpha.net/ORDO/Orphanet_262905 Partial trisomy of the long arm of chromosome 9 'Partial trisomy of the long arm of chromosome 9' SubClassOf 'Partial trisomy/tetrasomy of chromosome 9' 'Partial trisomy of the long arm of chromosome 9' SubClassOf 'Partial trisomy/tetrasomy of chromosome 9' http://www.orpha.net/ORDO/Orphanet_404473 Severe intellectual disability-progressive spastic diplegia syndrome 'Severe intellectual disability-progressive spastic diplegia syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Severe intellectual disability-progressive spastic diplegia syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Severe intellectual disability-progressive spastic diplegia syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Severe intellectual disability-progressive spastic diplegia syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Severe intellectual disability-progressive spastic diplegia syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 http://purl.obolibrary.org/obo/CLO_0013818 GM17197 'GM17197' SubClassOf 'has_quality' some 'female' 'GM17197' SubClassOf 'cultured cell' 'GM17197' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/CLO_0013816 GM17196 'GM17196' SubClassOf 'cultured cell' 'GM17196' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17196' SubClassOf 'has_quality' some 'female' http://www.orpha.net/ORDO/Orphanet_139466 SERKAL syndrome 'SERKAL syndrome' SubClassOf 'Syndrome with 46,XX disorder of sex development' 'SERKAL syndrome' SubClassOf '46,XX gonadal dysgenesis' 'SERKAL syndrome' SubClassOf 'Syndrome with 46,XX disorder of sex development' http://www.orpha.net/ORDO/Orphanet_250932 Autosomal dominant optic atrophy and peripheral neuropathy 'Autosomal dominant optic atrophy and peripheral neuropathy' SubClassOf 'Mitochondrial oxidative phosphorylation disorder with no known mechanism' 'Autosomal dominant optic atrophy and peripheral neuropathy' SubClassOf 'Autosomal dominant optic atrophy' 'Autosomal dominant optic atrophy and peripheral neuropathy' SubClassOf 'Mitochondrial oxidative phosphorylation disorder with no known mechanism' 'Autosomal dominant optic atrophy and peripheral neuropathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Autosomal dominant optic atrophy and peripheral neuropathy' SubClassOf 'Autosomal dominant optic atrophy' http://www.ebi.ac.uk/efo/EFO_0007144 amebiasis 'amebiasis' SubClassOf 'parasitic infection' 'amebiasis' SubClassOf 'parasitic infection' 'amebiasis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002428 http://www.ebi.ac.uk/efo/EFO_0008476 delayed reward discounting measurement 'delayed reward discounting measurement' SubClassOf 'mental or behavioural disorder biomarker' 'delayed reward discounting measurement' SubClassOf 'is_about' some 'obesity' 'delayed reward discounting measurement' SubClassOf 'is_about' some 'attention deficit hyperactivity disorder' 'delayed reward discounting measurement' SubClassOf 'mental or behavioural disorder biomarker' 'delayed reward discounting measurement' SubClassOf 'is_about' some 'mental or behavioural disorder' http://www.ebi.ac.uk/efo/EFO_0007143 alveolar soft part sarcoma 'alveolar soft part sarcoma' SubClassOf 'sarcoma' 'alveolar soft part sarcoma' SubClassOf 'soft tissue sarcoma' 'alveolar soft part sarcoma' SubClassOf 'has_disease_location' some ('alveolar bone' or ('part_of' some 'alveolar bone')) 'alveolar soft part sarcoma' SubClassOf 'sarcoma' http://www.ebi.ac.uk/efo/EFO_0007142 Alphavirus infectious disease 'Alphavirus infectious disease' SubClassOf 'viral disease' 'Alphavirus infectious disease' SubClassOf 'viral disease' 'Alphavirus infectious disease' SubClassOf 'Togaviridae infectious disease' http://www.orpha.net/ORDO/Orphanet_139471 Microphthalmia with brain and digit anomalies 'Microphthalmia with brain and digit anomalies' SubClassOf 'Syndromic developmental defect of the eye' 'Microphthalmia with brain and digit anomalies' SubClassOf 'Syndromic microphthalmia' 'Microphthalmia with brain and digit anomalies' SubClassOf 'Syndromic microphthalmia' http://www.ebi.ac.uk/efo/EFO_0007141 allergic conjunctivitis 'allergic conjunctivitis' SubClassOf 'conjunctivitis' 'allergic conjunctivitis' SubClassOf 'conjunctivitis' 'allergic conjunctivitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002314 'allergic conjunctivitis' SubClassOf 'eye allergy' http://www.ebi.ac.uk/efo/EFO_0007148 aortic valve insufficiency 'aortic valve insufficiency' SubClassOf 'aortic valve disease' 'aortic valve insufficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020674 'aortic valve insufficiency' SubClassOf 'aortic valve disease' http://www.orpha.net/ORDO/Orphanet_36355 P2Y12 defect 'P2Y12 defect' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017142 http://www.ebi.ac.uk/efo/EFO_0007147 anogenital venereal wart 'anogenital venereal wart' SubClassOf 'viral disease' 'anogenital venereal wart' SubClassOf 'human papilloma virus infection' 'anogenital venereal wart' SubClassOf 'has_disease_location' some ('zone of skin' or ('part_of' some 'zone of skin')) 'anogenital venereal wart' SubClassOf 'viral disease' 'anogenital venereal wart' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021682 http://www.ebi.ac.uk/efo/EFO_0008473 insulin response measurement 'insulin response measurement' SubClassOf 'insulin measurement' 'insulin response measurement' SubClassOf 'is_about' some 'glucose homeostasis' 'insulin response measurement' SubClassOf 'is_about' some 'diabetes mellitus' 'insulin response measurement' SubClassOf 'insulin measurement' 'insulin response measurement' SubClassOf 'is_about' some 'endocrine pancreas' http://www.ebi.ac.uk/efo/EFO_0007146 anisakiasis 'anisakiasis' SubClassOf 'parasitic intestinal disease' 'anisakiasis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024271 'anisakiasis' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'anisakiasis' SubClassOf 'Ascaridida infectious disease' http://www.ebi.ac.uk/efo/EFO_0008474 spine bone mineral density change measurement 'spine bone mineral density change measurement' SubClassOf 'spine bone mineral density' 'spine bone mineral density change measurement' SubClassOf 'is_about' some 'bone' 'spine bone mineral density change measurement' SubClassOf 'spine bone mineral density' http://www.ebi.ac.uk/efo/EFO_0007145 ancylostomiasis 'ancylostomiasis' SubClassOf 'parasitic infection' 'ancylostomiasis' SubClassOf 'Strongylida infectious disease' 'ancylostomiasis' SubClassOf 'parasitic infection' http://www.ebi.ac.uk/efo/EFO_0008475 mood instability measurement 'mood instability measurement' SubClassOf 'mental or behavioural disorder biomarker' 'mood instability measurement' SubClassOf 'mental or behavioural disorder biomarker' 'mood instability measurement' SubClassOf 'is_about' some 'mental or behavioural disorder' http://www.orpha.net/ORDO/Orphanet_209027 Qualitative or quantitative defects of protein glycosyltransferase-like 'Qualitative or quantitative defects of protein glycosyltransferase-like' SubClassOf 'Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' 'Qualitative or quantitative defects of protein glycosyltransferase-like' SubClassOf 'Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' http://www.orpha.net/ORDO/Orphanet_404469 Female infertility due to fertilization defect 'Female infertility due to fertilization defect' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Female infertility due to fertilization defect' SubClassOf 'female infertility' http://www.ebi.ac.uk/efo/EFO_0007149 appendicitis 'appendicitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001674 'appendicitis' SubClassOf 'has_disease_location' some ('vermiform appendix' or ('part_of' some 'vermiform appendix')) 'appendicitis' SubClassOf 'colitis' http://www.orpha.net/ORDO/Orphanet_140465 Autosomal dominant distal hereditary motor neuropathy 'Autosomal dominant distal hereditary motor neuropathy' SubClassOf 'Distal hereditary motor neuropathy' 'Autosomal dominant distal hereditary motor neuropathy' SubClassOf 'Distal hereditary motor neuropathy' 'Autosomal dominant distal hereditary motor neuropathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 http://www.orpha.net/ORDO/Orphanet_404466 Female infertility due to zona pellucida defect 'Female infertility due to zona pellucida defect' SubClassOf 'Female infertility due to fertilization defect' 'Female infertility due to zona pellucida defect' SubClassOf 'Female infertility due to fertilization defect' 'Female infertility due to zona pellucida defect' SubClassOf http://purl.obolibrary.org/obo/MONDO_0014769 http://www.orpha.net/ORDO/Orphanet_404463 Multisystemic smooth muscle dysfunction syndrome 'Multisystemic smooth muscle dysfunction syndrome' SubClassOf 'Rare disease with thoracic aortic aneurysm and aortic dissection' 'Multisystemic smooth muscle dysfunction syndrome' SubClassOf 'Genetic central nervous system and retinal vascular disease' 'Multisystemic smooth muscle dysfunction syndrome' SubClassOf 'disease of genitourinary system' 'Multisystemic smooth muscle dysfunction syndrome' SubClassOf 'has_disease_location' some 'smooth muscle' 'Multisystemic smooth muscle dysfunction syndrome' SubClassOf 'Rare disease with thoracic aortic aneurysm and aortic dissection' 'Multisystemic smooth muscle dysfunction syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021189 'Multisystemic smooth muscle dysfunction syndrome' SubClassOf 'Genetic central nervous system and retinal vascular disease' http://www.orpha.net/ORDO/Orphanet_140459 Autosomal recessive hereditary demyelinating motor and sensory neuropathy 'Autosomal recessive hereditary demyelinating motor and sensory neuropathy' SubClassOf 'Hereditary motor and sensory neuropathy' 'Autosomal recessive hereditary demyelinating motor and sensory neuropathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018776 http://www.orpha.net/ORDO/Orphanet_209024 Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase 'Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase' SubClassOf 'Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' 'Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase' SubClassOf 'Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' http://www.ebi.ac.uk/efo/EFO_0007151 Arenavirus hemorrhagic fever 'Arenavirus hemorrhagic fever' SubClassOf 'viral disease' 'Arenavirus hemorrhagic fever' SubClassOf 'Arenaviridae infectious disease' 'Arenavirus hemorrhagic fever' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018087 'Arenavirus hemorrhagic fever' SubClassOf 'viral disease' http://www.ebi.ac.uk/efo/EFO_0007150 Arenaviridae infectious disease 'Arenaviridae infectious disease' SubClassOf 'viral disease' 'Arenaviridae infectious disease' SubClassOf 'viral disease' http://www.orpha.net/ORDO/Orphanet_139474 17q11.2 microduplication syndrome '17q11.2 microduplication syndrome' SubClassOf 'Partial duplication of the long arm of chromosome 17' '17q11.2 microduplication syndrome' SubClassOf 'Partial duplication of the long arm of chromosome 17' '17q11.2 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 '17q11.2 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 http://www.ebi.ac.uk/efo/EFO_0007133 adenomyoma 'adenomyoma' SubClassOf 'reproductive system neoplasm' 'adenomyoma' SubClassOf 'urogenital neoplasm' 'adenomyoma' SubClassOf 'female reproductive system disease' 'adenomyoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000624 'adenomyoma' SubClassOf 'has_disease_location' some ('female reproductive system' or ('part_of' some 'female reproductive system')) http://www.ebi.ac.uk/efo/EFO_0008465 glucagon-like peptide-1 measurement 'glucagon-like peptide-1 measurement' SubClassOf 'hormone measurement' 'glucagon-like peptide-1 measurement' SubClassOf 'is_about' some 'endocrine system' 'glucagon-like peptide-1 measurement' SubClassOf 'is_about' some 'diabetes mellitus' 'glucagon-like peptide-1 measurement' SubClassOf 'hormone measurement' 'glucagon-like peptide-1 measurement' SubClassOf 'is_about' some 'glucose homeostasis' http://www.orpha.net/ORDO/Orphanet_139480 Autosomal recessive spastic paraplegia type 39 'Autosomal recessive spastic paraplegia type 39' SubClassOf 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement' 'Autosomal recessive spastic paraplegia type 39' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Autosomal recessive spastic paraplegia type 39' SubClassOf 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement' 'Autosomal recessive spastic paraplegia type 39' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Autosomal recessive spastic paraplegia type 39' SubClassOf 'Rare syndromic dyslipidemia' http://www.ebi.ac.uk/efo/EFO_0007132 acute hemorrhagic leukoencephalitis 'acute hemorrhagic leukoencephalitis' SubClassOf 'encephalomyelitis' 'acute hemorrhagic leukoencephalitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003337 'acute hemorrhagic leukoencephalitis' SubClassOf 'encephalomyelitis' 'acute hemorrhagic leukoencephalitis' SubClassOf 'has_disease_location' some ('blood vessel' or ('part_of' some 'blood vessel')) 'acute hemorrhagic leukoencephalitis' SubClassOf 'acute disseminated encephalomyelitis' 'acute hemorrhagic leukoencephalitis' SubClassOf 'participates_in' some 'inflammatory response' http://www.ebi.ac.uk/efo/EFO_0008466 matrix metalloproteinase 8 measurement 'matrix metalloproteinase 8 measurement' SubClassOf 'matrix metalloproteinase measurement' 'matrix metalloproteinase 8 measurement' SubClassOf 'is_about' some 'Abnormality of the cardiovascular system' 'matrix metalloproteinase 8 measurement' SubClassOf 'is_about' some 'inflammatory response' 'matrix metalloproteinase 8 measurement' SubClassOf 'matrix metalloproteinase measurement' http://www.ebi.ac.uk/efo/EFO_0007131 acute hemorrhagic conjunctivitis 'acute hemorrhagic conjunctivitis' SubClassOf 'viral disease' 'acute hemorrhagic conjunctivitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024618 'acute hemorrhagic conjunctivitis' SubClassOf 'viral disease' 'acute hemorrhagic conjunctivitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001214 http://www.ebi.ac.uk/efo/EFO_0008467 behavioural inhibitory control measurement 'behavioural inhibitory control measurement' SubClassOf 'mental or behavioural disorder biomarker' 'behavioural inhibitory control measurement' SubClassOf 'mental or behavioural disorder biomarker' 'behavioural inhibitory control measurement' SubClassOf 'is_about' some 'mental or behavioural disorder' 'behavioural inhibitory control measurement' SubClassOf 'is_about' some 'behavior' http://www.ebi.ac.uk/efo/EFO_0007130 acute disseminated encephalomyelitis 'acute disseminated encephalomyelitis' SubClassOf 'encephalomyelitis' 'acute disseminated encephalomyelitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016428 'acute disseminated encephalomyelitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015659 'acute disseminated encephalomyelitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020068 'acute disseminated encephalomyelitis' SubClassOf 'encephalomyelitis' http://www.ebi.ac.uk/efo/EFO_0008468 midregional pro atrial natriuretic peptide measurement 'midregional pro atrial natriuretic peptide measurement' SubClassOf 'hormone measurement' 'midregional pro atrial natriuretic peptide measurement' SubClassOf 'is_about' some 'heart' 'midregional pro atrial natriuretic peptide measurement' SubClassOf 'hormone measurement' http://www.ebi.ac.uk/efo/EFO_0007137 AIDS related complex 'AIDS related complex' SubClassOf 'HIV infection' 'AIDS related complex' SubClassOf 'HIV infection' http://www.ebi.ac.uk/efo/EFO_0007136 agnosia 'agnosia' SubClassOf 'mental or behavioural disorder' 'agnosia' SubClassOf 'mental or behavioural disorder' 'agnosia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024417 'agnosia' SubClassOf 'has_disease_location' some 'central nervous system' http://www.ebi.ac.uk/efo/EFO_0007135 adult-onset Still's disease 'adult-onset Still's disease' SubClassOf 'arthritis' 'adult-onset Still's disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019751 'adult-onset Still's disease' SubClassOf 'disease has feature' some http://purl.obolibrary.org/obo/MONDO_0015540 'adult-onset Still's disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019724 'adult-onset Still's disease' SubClassOf 'arthritis' 'adult-onset Still's disease' SubClassOf 'disease has feature' some http://purl.obolibrary.org/obo/MONDO_0002258 http://www.ebi.ac.uk/efo/EFO_0008463 glucagon measurement 'glucagon measurement' SubClassOf 'hormone measurement' 'glucagon measurement' SubClassOf 'is_about' some 'endocrine pancreas' 'glucagon measurement' SubClassOf 'is_about' some 'diabetes mellitus' 'glucagon measurement' SubClassOf 'is_about' some 'glucose homeostasis' 'glucagon measurement' SubClassOf 'hormone measurement' http://www.ebi.ac.uk/efo/EFO_0007134 adenosarcoma 'adenosarcoma' SubClassOf 'carcinoma' 'adenosarcoma' SubClassOf 'carcinoma' 'adenosarcoma' SubClassOf 'Malignant Mixed Neoplasm' 'adenosarcoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001416 http://www.ebi.ac.uk/efo/EFO_0008464 glucose-dependent insulinotropic peptide measurement 'glucose-dependent insulinotropic peptide measurement' SubClassOf 'hormone measurement' 'glucose-dependent insulinotropic peptide measurement' SubClassOf 'hormone measurement' 'glucose-dependent insulinotropic peptide measurement' SubClassOf 'is_about' some 'glucose homeostasis' 'glucose-dependent insulinotropic peptide measurement' SubClassOf 'is_about' some 'endocrine system' 'glucose-dependent insulinotropic peptide measurement' SubClassOf 'is_about' some 'diabetes mellitus' http://www.orpha.net/ORDO/Orphanet_209038 Qualitative or quantitative defects of myofibrillar proteins 'Qualitative or quantitative defects of myofibrillar proteins' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' 'Qualitative or quantitative defects of myofibrillar proteins' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' http://www.orpha.net/ORDO/Orphanet_140477 Autosomal recessive hereditary sensory and autonomic neuropathy 'Autosomal recessive hereditary sensory and autonomic neuropathy' SubClassOf 'Hereditary sensory and autonomic neuropathy' 'Autosomal recessive hereditary sensory and autonomic neuropathy' SubClassOf 'autosomal recessive disease' 'Autosomal recessive hereditary sensory and autonomic neuropathy' SubClassOf 'Hereditary sensory and autonomic neuropathy' http://www.ebi.ac.uk/efo/EFO_0007139 aleutian mink disease 'aleutian mink disease' SubClassOf 'viral disease' 'aleutian mink disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0025371 'aleutian mink disease' SubClassOf 'has_disease_location' some ('blood vessel' or ('part_of' some 'blood vessel')) 'aleutian mink disease' SubClassOf 'viral disease' http://www.ebi.ac.uk/efo/EFO_0007138 akinetic mutism 'akinetic mutism' SubClassOf 'brain disease' 'akinetic mutism' SubClassOf 'brain disease' http://www.ebi.ac.uk/efo/EFO_0008469 B-type natriuretic peptide to N-terminal pro B-type natriuretic peptide ratio 'B-type natriuretic peptide to N-terminal pro B-type natriuretic peptide ratio' SubClassOf 'hormone measurement' 'B-type natriuretic peptide to N-terminal pro B-type natriuretic peptide ratio' SubClassOf 'is_about' some 'heart' 'B-type natriuretic peptide to N-terminal pro B-type natriuretic peptide ratio' SubClassOf 'hormone measurement' http://www.orpha.net/ORDO/Orphanet_404454 Alacrimia-choreoathetosis-liver dysfunction syndrome 'Alacrimia-choreoathetosis-liver dysfunction syndrome' SubClassOf 'Other metabolic disease' 'Alacrimia-choreoathetosis-liver dysfunction syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Alacrimia-choreoathetosis-liver dysfunction syndrome' SubClassOf 'Other metabolic disease' 'Alacrimia-choreoathetosis-liver dysfunction syndrome' SubClassOf 'Disorder of carbohydrate metabolism' 'Alacrimia-choreoathetosis-liver dysfunction syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0045010 http://www.orpha.net/ORDO/Orphanet_140474 Autosomal dominant hereditary sensory and autonomic neuropathy 'Autosomal dominant hereditary sensory and autonomic neuropathy' SubClassOf 'Hereditary sensory and autonomic neuropathy' 'Autosomal dominant hereditary sensory and autonomic neuropathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 'Autosomal dominant hereditary sensory and autonomic neuropathy' SubClassOf 'Hereditary sensory and autonomic neuropathy' http://www.orpha.net/ORDO/Orphanet_140471 Hereditary sensory and autonomic neuropathy 'Hereditary sensory and autonomic neuropathy' SubClassOf 'Genetic peripheral neuropathy' 'Hereditary sensory and autonomic neuropathy' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0002321 and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) 'Hereditary sensory and autonomic neuropathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002321 'Hereditary sensory and autonomic neuropathy' SubClassOf 'Genetic peripheral neuropathy' http://purl.obolibrary.org/obo/ZFA_0000407 pectoral girdle 'pectoral girdle' SubClassOf 'part_of' some 'skeletal system' http://www.orpha.net/ORDO/Orphanet_404451 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome 'FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 http://www.orpha.net/ORDO/Orphanet_140468 Autosomal recessive distal hereditary motor neuropathy 'Autosomal recessive distal hereditary motor neuropathy' SubClassOf 'Distal hereditary motor neuropathy' 'Autosomal recessive distal hereditary motor neuropathy' SubClassOf 'Distal hereditary motor neuropathy' 'Autosomal recessive distal hereditary motor neuropathy' SubClassOf 'autosomal recessive disease' http://www.ebi.ac.uk/efo/EFO_0008470 dietary potassium intake measurement 'dietary potassium intake measurement' SubClassOf 'diet measurement' 'dietary potassium intake measurement' SubClassOf 'is_about' some 'potassium' 'dietary potassium intake measurement' SubClassOf 'diet measurement' http://www.orpha.net/ORDO/Orphanet_209033 Qualitative or quantitative defects of protein O-mannosyltransferase 2 'Qualitative or quantitative defects of protein O-mannosyltransferase 2' SubClassOf 'Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' 'Qualitative or quantitative defects of protein O-mannosyltransferase 2' SubClassOf 'Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' http://www.ebi.ac.uk/efo/EFO_0007140 allergic bronchopulmonary aspergillosis 'allergic bronchopulmonary aspergillosis' SubClassOf 'aspergillosis' 'allergic bronchopulmonary aspergillosis' SubClassOf 'aspergillosis' 'allergic bronchopulmonary aspergillosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015118 'allergic bronchopulmonary aspergillosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000771 http://www.orpha.net/ORDO/Orphanet_139485 Autosomal recessive ataxia due to ubiquinone deficiency 'Autosomal recessive ataxia due to ubiquinone deficiency' SubClassOf 'Coenzyme Q10 deficiency' 'Autosomal recessive ataxia due to ubiquinone deficiency' SubClassOf 'Autosomal recessive cerebellar ataxia' 'Autosomal recessive ataxia due to ubiquinone deficiency' SubClassOf 'Monogenic disease with epilepsy' 'Autosomal recessive ataxia due to ubiquinone deficiency' SubClassOf 'Coenzyme Q10 deficiency' 'Autosomal recessive ataxia due to ubiquinone deficiency' SubClassOf 'Autosomal recessive cerebellar ataxia' 'Autosomal recessive ataxia due to ubiquinone deficiency' SubClassOf 'Metabolic disease with dementia' 'Autosomal recessive ataxia due to ubiquinone deficiency' EquivalentTo 'Autosomal recessive cerebellar ataxia' and 'Coenzyme Q10 deficiency' http://www.orpha.net/ORDO/Orphanet_209030 Qualitative or quantitative defects of protein O-mannosyltransferase 1 'Qualitative or quantitative defects of protein O-mannosyltransferase 1' SubClassOf 'Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' 'Qualitative or quantitative defects of protein O-mannosyltransferase 1' SubClassOf 'Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' http://www.ebi.ac.uk/efo/EFO_0007166 bartonellosis 'bartonellosis' SubClassOf 'bacterial disease' 'bartonellosis' SubClassOf 'primary Bartonellaceae infectious disease' 'bartonellosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000314 'bartonellosis' SubClassOf 'bacterial disease' http://www.ebi.ac.uk/efo/EFO_0008498 clear cell sarcoma 'clear cell sarcoma' SubClassOf 'soft tissue sarcoma' 'clear cell sarcoma' SubClassOf 'soft tissue sarcoma' http://www.orpha.net/ORDO/Orphanet_3168 Sillence syndrome 'Sillence syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Sillence syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' http://www.ebi.ac.uk/efo/EFO_0007165 Barre-Lieou syndrome 'Barre-Lieou syndrome' SubClassOf 'nervous system disease' 'Barre-Lieou syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Barre-Lieou syndrome' SubClassOf http://purl.obolibrary.org/obo/RO_0004022 some http://purl.obolibrary.org/obo/MONDO_0037747 'Barre-Lieou syndrome' SubClassOf 'nervous system disease' http://www.ebi.ac.uk/efo/EFO_0008499 DNA repair deficiency 'DNA repair deficiency' SubClassOf 'genetic disorder' 'DNA repair deficiency' SubClassOf 'metabolic disease' 'DNA repair deficiency' SubClassOf 'genetic disorder' 'DNA repair deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024297 http://www.orpha.net/ORDO/Orphanet_3167 Siegler-Brewer-Carey syndrome 'Siegler-Brewer-Carey syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015118 http://www.ebi.ac.uk/efo/EFO_0007164 Balkan nephropathy 'Balkan nephropathy' SubClassOf 'nephritis' 'Balkan nephropathy' SubClassOf 'hereditary nephritis' 'Balkan nephropathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001085 http://www.orpha.net/ORDO/Orphanet_3166 Sialuria 'Sialuria' SubClassOf 'Disorder of sialic acid metabolism' 'Sialuria' SubClassOf 'Free sialic acid storage disease' 'Sialuria' SubClassOf 'Disorder of sialic acid metabolism' http://www.ebi.ac.uk/efo/EFO_0007163 balantidiasis 'balantidiasis' SubClassOf 'parasitic intestinal disease' 'balantidiasis' SubClassOf 'bacterial disease' 'balantidiasis' SubClassOf 'Ciliophora infectious disease' 'balantidiasis' SubClassOf 'disease has feature' some 'dysentery' 'balantidiasis' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'balantidiasis' SubClassOf 'parasitic intestinal disease' 'balantidiasis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002428 http://www.ebi.ac.uk/efo/EFO_0008494 Chikungunya encephalitis 'Chikungunya encephalitis' SubClassOf 'viral disease' 'Chikungunya encephalitis' SubClassOf 'viral disease' http://www.orpha.net/ORDO/Orphanet_3164 Omphalocele syndrome, Shprintzen-Goldberg type 'Omphalocele syndrome, Shprintzen-Goldberg type' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Omphalocele syndrome, Shprintzen-Goldberg type' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Omphalocele syndrome, Shprintzen-Goldberg type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015216 'Omphalocele syndrome, Shprintzen-Goldberg type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Omphalocele syndrome, Shprintzen-Goldberg type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 http://www.ebi.ac.uk/efo/EFO_0007169 biliary dyskinesia 'biliary dyskinesia' SubClassOf 'biliary tract disease' 'biliary dyskinesia' SubClassOf 'gallbladder disease' 'biliary dyskinesia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002866 'biliary dyskinesia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002886 'biliary dyskinesia' SubClassOf 'gallbladder disease' 'biliary dyskinesia' SubClassOf 'muscular disease' http://www.ebi.ac.uk/efo/EFO_0008495 childhood supratentorial ependymoma 'childhood supratentorial ependymoma' SubClassOf 'ependymoma' 'childhood supratentorial ependymoma' SubClassOf 'childhood cancer' 'childhood supratentorial ependymoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021191 'childhood supratentorial ependymoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003478 'childhood supratentorial ependymoma' SubClassOf 'ependymoma' 'childhood supratentorial ependymoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020687 http://www.orpha.net/ORDO/Orphanet_3163 SHORT syndrome 'SHORT syndrome' SubClassOf 'Rare insulin-resistance syndrome' 'SHORT syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'SHORT syndrome' SubClassOf 'Syndromic hyperopia' 'SHORT syndrome' SubClassOf 'Rare disease with glaucoma as a major feature' 'SHORT syndrome' SubClassOf 'Genetic lipodystrophy' 'SHORT syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'SHORT syndrome' SubClassOf 'Genetic malformation syndrome with short stature' 'SHORT syndrome' SubClassOf 'Rare insulin-resistance syndrome' 'SHORT syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015333 'SHORT syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'SHORT syndrome' SubClassOf 'Syndromic hyperopia' 'SHORT syndrome' SubClassOf 'Developmental anomaly of metabolic origin' 'SHORT syndrome' SubClassOf 'Rare disease with glaucoma as a major feature' 'SHORT syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007 'SHORT syndrome' SubClassOf 'Genetic lipodystrophy' 'SHORT syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'SHORT syndrome' SubClassOf 'Genetic malformation syndrome with short stature' http://www.ebi.ac.uk/efo/EFO_0007168 berylliosis 'berylliosis' SubClassOf 'pneumoconiosis' 'berylliosis' SubClassOf 'pneumoconiosis' http://www.ebi.ac.uk/efo/EFO_0008496 chronic hepatitis 'chronic hepatitis' SubClassOf 'hepatitis' 'chronic hepatitis' SubClassOf 'hepatitis' 'chronic hepatitis' SubClassOf 'has modifier' some 'chronic' http://www.ebi.ac.uk/efo/EFO_0007167 Bell's palsy 'Bell's palsy' SubClassOf 'palsy' 'Bell's palsy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001835 'Bell's palsy' SubClassOf 'palsy' 'Bell's palsy' SubClassOf 'cranial nerve palsy' 'Bell's palsy' SubClassOf 'facial nerve disease' http://www.ebi.ac.uk/efo/EFO_0008497 chronic lung allograft dysfunction 'chronic lung allograft dysfunction' SubClassOf 'lung disease' 'chronic lung allograft dysfunction' SubClassOf 'has modifier' some 'chronic' 'chronic lung allograft dysfunction' SubClassOf 'lung disease' http://www.orpha.net/ORDO/Orphanet_98614 Conjunctival lymphangiectasia 'Conjunctival lymphangiectasia' SubClassOf 'Conjunctival vascular anomaly' 'Conjunctival lymphangiectasia' SubClassOf 'Conjunctival vascular anomaly' http://www.orpha.net/ORDO/Orphanet_99945 Autosomal dominant Charcot-Marie-Tooth disease type 2L 'Autosomal dominant Charcot-Marie-Tooth disease type 2L' SubClassOf 'Autosomal dominant Charcot-Marie-Tooth disease type 2' 'Autosomal dominant Charcot-Marie-Tooth disease type 2L' SubClassOf 'Autosomal dominant Charcot-Marie-Tooth disease type 2' http://www.orpha.net/ORDO/Orphanet_98613 Conjunctival telangiectasia 'Conjunctival telangiectasia' SubClassOf 'Conjunctival vascular anomaly' 'Conjunctival telangiectasia' SubClassOf 'Conjunctival vascular anomaly' http://www.orpha.net/ORDO/Orphanet_99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K 'Autosomal dominant Charcot-Marie-Tooth disease type 2K' SubClassOf 'Autosomal dominant Charcot-Marie-Tooth disease type 2' 'Autosomal dominant Charcot-Marie-Tooth disease type 2K' SubClassOf 'Autosomal dominant Charcot-Marie-Tooth disease type 2' http://www.orpha.net/ORDO/Orphanet_98616 Conjunctival tumor 'Conjunctival tumor' SubClassOf 'Conjunctival Disorder' 'Conjunctival tumor' SubClassOf 'eye neoplasm' 'Conjunctival tumor' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://www.orpha.net/ORDO/Orphanet_99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 'Autosomal dominant Charcot-Marie-Tooth disease type 2A2' SubClassOf 'Autosomal dominant Charcot-Marie-Tooth disease type 2' 'Autosomal dominant Charcot-Marie-Tooth disease type 2A2' SubClassOf 'Autosomal dominant Charcot-Marie-Tooth disease type 2' http://www.orpha.net/ORDO/Orphanet_98615 Pigmented conjunctival lesion 'Pigmented conjunctival lesion' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Pigmented conjunctival lesion' SubClassOf 'Conjunctival Disorder' http://www.orpha.net/ORDO/Orphanet_99946 Autosomal dominant Charcot-Marie-Tooth disease type 2A1 'Autosomal dominant Charcot-Marie-Tooth disease type 2A1' SubClassOf 'Autosomal dominant Charcot-Marie-Tooth disease type 2' 'Autosomal dominant Charcot-Marie-Tooth disease type 2A1' SubClassOf 'Autosomal dominant Charcot-Marie-Tooth disease type 2' http://www.orpha.net/ORDO/Orphanet_99949 Charcot-Marie-Tooth disease type 4C 'Charcot-Marie-Tooth disease type 4C' SubClassOf 'Charcot-Marie-Tooth disease type 4' 'Charcot-Marie-Tooth disease type 4C' SubClassOf 'Charcot-Marie-Tooth disease type 4' http://www.orpha.net/ORDO/Orphanet_98617 Bulbar conjunctival dermoid or conjunctival dermolipoma 'Bulbar conjunctival dermoid or conjunctival dermolipoma' SubClassOf 'Conjunctival tumor' 'Bulbar conjunctival dermoid or conjunctival dermolipoma' SubClassOf 'Conjunctival tumor' http://www.orpha.net/ORDO/Orphanet_99948 Charcot-Marie-Tooth disease type 4A 'Charcot-Marie-Tooth disease type 4A' SubClassOf 'Charcot-Marie-Tooth disease type 4' 'Charcot-Marie-Tooth disease type 4A' SubClassOf 'Charcot-Marie-Tooth disease type 4' 'Charcot-Marie-Tooth disease type 4A' SubClassOf 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type A' http://www.orpha.net/ORDO/Orphanet_3169 Sirenomelia 'Sirenomelia' SubClassOf 'Syndromic anorectal malformation' 'Sirenomelia' SubClassOf 'Genetic syndrome with limb malformations as a major feature' 'Sirenomelia' SubClassOf 'Familial caudal dysgenesis' http://www.orpha.net/ORDO/Orphanet_99950 Charcot-Marie-Tooth disease type 4D 'Charcot-Marie-Tooth disease type 4D' SubClassOf 'Charcot-Marie-Tooth disease type 4' 'Charcot-Marie-Tooth disease type 4D' SubClassOf 'Charcot-Marie-Tooth disease type 4' http://www.orpha.net/ORDO/Orphanet_98621 Rare hyperopia and astigmatism 'Rare hyperopia and astigmatism' SubClassOf 'Rare genetic refraction anomaly' 'Rare hyperopia and astigmatism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020206 'Rare hyperopia and astigmatism' SubClassOf 'Rare genetic refraction anomaly' http://www.orpha.net/ORDO/Orphanet_99952 Charcot-Marie-Tooth disease type 4F 'Charcot-Marie-Tooth disease type 4F' SubClassOf 'Charcot-Marie-Tooth disease type 4' 'Charcot-Marie-Tooth disease type 4F' SubClassOf 'Charcot-Marie-Tooth disease type 4' http://www.orpha.net/ORDO/Orphanet_98620 Syndromic myopia 'Syndromic myopia' SubClassOf 'Rare genetic refraction anomaly' 'Syndromic myopia' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0001384 and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021127) 'Syndromic myopia' SubClassOf 'Rare genetic refraction anomaly' 'Syndromic myopia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001384 'Syndromic myopia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020206 'Syndromic myopia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 http://www.orpha.net/ORDO/Orphanet_99951 Charcot-Marie-Tooth disease type 4E 'Charcot-Marie-Tooth disease type 4E' SubClassOf 'Charcot-Marie-Tooth disease type 4' 'Charcot-Marie-Tooth disease type 4E' SubClassOf 'Charcot-Marie-Tooth disease type 4' http://www.orpha.net/ORDO/Orphanet_98623 Syndromic keratoconus 'Syndromic keratoconus' SubClassOf 'Keratoconus' 'Syndromic keratoconus' EquivalentTo 'Keratoconus' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021127) 'Syndromic keratoconus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Syndromic keratoconus' SubClassOf 'Keratoconus' http://www.orpha.net/ORDO/Orphanet_99954 Charcot-Marie-Tooth disease type 4H 'Charcot-Marie-Tooth disease type 4H' SubClassOf 'Charcot-Marie-Tooth disease type 4' 'Charcot-Marie-Tooth disease type 4H' SubClassOf 'Charcot-Marie-Tooth disease type 4' http://www.orpha.net/ORDO/Orphanet_98622 Syndromic hyperopia 'Syndromic hyperopia' SubClassOf 'Rare hyperopia and astigmatism' 'Syndromic hyperopia' SubClassOf 'Rare hyperopia and astigmatism' 'Syndromic hyperopia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Syndromic hyperopia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004891 'Syndromic hyperopia' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0004891 and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021127) http://www.orpha.net/ORDO/Orphanet_99953 Charcot-Marie-Tooth disease type 4G 'Charcot-Marie-Tooth disease type 4G' SubClassOf 'Charcot-Marie-Tooth disease type 4' 'Charcot-Marie-Tooth disease type 4G' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002316 'Charcot-Marie-Tooth disease type 4G' SubClassOf 'Charcot-Marie-Tooth disease type 4' http://www.orpha.net/ORDO/Orphanet_139411 Carney triad 'Carney triad' SubClassOf 'Multiple polyglandular tumor' 'Carney triad' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021141 'Carney triad' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021058 'Carney triad' SubClassOf 'disease has feature' some 'extra-adrenal sympathetic paraganglioma' 'Carney triad' SubClassOf 'Multiple polyglandular tumor' 'Carney triad' SubClassOf 'disease has feature' some 'Gastrointestinal stromal tumor' 'Carney triad' SubClassOf 'disease has feature' some http://purl.obolibrary.org/obo/MONDO_0021117 http://www.ebi.ac.uk/efo/EFO_0007173 Blastocystis hominis infectious disease 'Blastocystis hominis infectious disease' SubClassOf 'parasitic intestinal disease' 'Blastocystis hominis infectious disease' SubClassOf 'amebiasis' 'Blastocystis hominis infectious disease' SubClassOf 'parasitic intestinal disease' http://www.ebi.ac.uk/efo/EFO_0007172 blackwater fever 'blackwater fever' SubClassOf 'malaria' 'blackwater fever' SubClassOf 'malaria' http://www.ebi.ac.uk/efo/EFO_0007171 black piedra 'black piedra' SubClassOf 'infectious disease' 'black piedra' SubClassOf 'infectious disease' 'black piedra' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000253 http://www.ebi.ac.uk/efo/EFO_0007170 bird fancier's lung 'bird fancier's lung' SubClassOf 'allergy' 'bird fancier's lung' SubClassOf 'allergy' 'bird fancier's lung' SubClassOf 'extrinsic allergic alveolitis' 'bird fancier's lung' SubClassOf 'has_disease_location' some ('alveolus' or ('part_of' some 'alveolus')) http://www.ebi.ac.uk/efo/EFO_0008487 lateral ventricle volume measurement 'lateral ventricle volume measurement' SubClassOf 'brain volume measurement' 'lateral ventricle volume measurement' SubClassOf 'is_about' some 'telencephalic ventricle' 'lateral ventricle volume measurement' SubClassOf 'is_about' some 'brain' 'lateral ventricle volume measurement' SubClassOf 'brain volume measurement' http://www.ebi.ac.uk/efo/EFO_0007155 ascaridiasis 'ascaridiasis' SubClassOf 'parasitic infection' 'ascaridiasis' SubClassOf 'has_disease_location' some ('intestine' or ('part_of' some 'intestine')) 'ascaridiasis' SubClassOf 'parasitic infection' 'ascaridiasis' SubClassOf 'Ascaridida infectious disease' http://www.ebi.ac.uk/efo/EFO_0007154 ascariasis 'ascariasis' SubClassOf 'parasitic infection' 'ascariasis' SubClassOf 'parasitic infection' 'ascariasis' SubClassOf 'has_disease_location' some ('intestine' or ('part_of' some 'intestine')) 'ascariasis' SubClassOf 'Ascaridida infectious disease' http://www.ebi.ac.uk/efo/EFO_0007153 asbestosis 'asbestosis' SubClassOf 'pneumoconiosis' 'asbestosis' SubClassOf 'pneumoconiosis' http://www.orpha.net/ORDO/Orphanet_3177 Corneal-cerebellar syndrome 'Corneal-cerebellar syndrome' SubClassOf 'Syndromic corneal dystrophy' 'Corneal-cerebellar syndrome' SubClassOf 'Syndromic corneal dystrophy' 'Corneal-cerebellar syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004884 'Corneal-cerebellar syndrome' SubClassOf 'hereditary ataxia' 'Corneal-cerebellar syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0022687 http://www.ebi.ac.uk/efo/EFO_0007152 Arterivirus infectious disease 'Arterivirus infectious disease' SubClassOf 'viral disease' 'Arterivirus infectious disease' SubClassOf 'Nidovirales infectious disease' 'Arterivirus infectious disease' SubClassOf 'viral disease' http://www.orpha.net/ORDO/Orphanet_3176 Spina bifida - hypospadias 'Spina bifida - hypospadias' SubClassOf 'Syndromic urogenital tract malformation' 'Spina bifida - hypospadias' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017120 'Spina bifida - hypospadias' SubClassOf 'Syndromic urogenital tract malformation' http://www.ebi.ac.uk/efo/EFO_0007159 atrophic rhinitis 'atrophic rhinitis' SubClassOf 'respiratory system disease' 'atrophic rhinitis' SubClassOf 'rhinitis' 'atrophic rhinitis' SubClassOf 'respiratory system disease' http://www.orpha.net/ORDO/Orphanet_3175 Spasticity - intellectual disability - X-linked epilepsy 'Spasticity - intellectual disability - X-linked epilepsy' SubClassOf 'X-linked syndromic intellectual disability' 'Spasticity - intellectual disability - X-linked epilepsy' SubClassOf 'ARX-related epileptic encephalopathy' 'Spasticity - intellectual disability - X-linked epilepsy' SubClassOf 'X-linked syndromic intellectual disability' 'Spasticity - intellectual disability - X-linked epilepsy' SubClassOf 'ARX-related epileptic encephalopathy' http://www.ebi.ac.uk/efo/EFO_0007158 Astroviridae infectious disease 'Astroviridae infectious disease' SubClassOf 'viral disease' 'Astroviridae infectious disease' SubClassOf 'viral disease' http://www.ebi.ac.uk/efo/EFO_0008484 response to carbamazepine 'response to carbamazepine' SubClassOf 'is_about' some 'carbamazepine' http://www.ebi.ac.uk/efo/EFO_0007157 aspergillosis 'aspergillosis' SubClassOf 'immune system disease' 'aspergillosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002312 'aspergillosis' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'aspergillosis' SubClassOf 'immune system disease' http://www.orpha.net/ORDO/Orphanet_3173 Infantile spasms - broad thumbs 'Infantile spasms - broad thumbs' SubClassOf 'Epilepsy syndrome' 'Infantile spasms - broad thumbs' SubClassOf 'Epilepsy syndrome' http://www.ebi.ac.uk/efo/EFO_0007156 Ascaridida infectious disease 'Ascaridida infectious disease' SubClassOf 'parasitic infection' 'Ascaridida infectious disease' SubClassOf 'Nematoda infectious disease' 'Ascaridida infectious disease' SubClassOf 'parasitic infection' http://www.orpha.net/ORDO/Orphanet_3172 Eyebrow duplication - syndactyly 'Eyebrow duplication - syndactyly' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Eyebrow duplication - syndactyly' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' http://www.orpha.net/ORDO/Orphanet_98625 Superficial corneal dystrophy 'Superficial corneal dystrophy' SubClassOf 'Corneal dystrophy' 'Superficial corneal dystrophy' SubClassOf 'Corneal dystrophy' http://www.orpha.net/ORDO/Orphanet_99956 Charcot-Marie-Tooth disease type 4B2 'Charcot-Marie-Tooth disease type 4B2' SubClassOf 'Charcot-Marie-Tooth disease type 4' 'Charcot-Marie-Tooth disease type 4B2' SubClassOf 'Charcot-Marie-Tooth disease type 4' http://www.orpha.net/ORDO/Orphanet_99955 Charcot-Marie-Tooth disease type 4B1 'Charcot-Marie-Tooth disease type 4B1' SubClassOf 'Charcot-Marie-Tooth disease type 4' 'Charcot-Marie-Tooth disease type 4B1' SubClassOf 'Charcot-Marie-Tooth disease type 4' http://www.orpha.net/ORDO/Orphanet_98627 Posterior corneal dystrophy 'Posterior corneal dystrophy' SubClassOf 'Corneal dystrophy' 'Posterior corneal dystrophy' SubClassOf 'Corneal dystrophy' http://www.orpha.net/ORDO/Orphanet_98626 Stromal corneal dystrophy 'Stromal corneal dystrophy' SubClassOf 'Corneal dystrophy' 'Stromal corneal dystrophy' SubClassOf 'Corneal dystrophy' http://www.orpha.net/ORDO/Orphanet_36367 Distal monosomy 1q 'Distal monosomy 1q' SubClassOf 'Partial deletion of the long arm of chromosome 1' 'Distal monosomy 1q' SubClassOf 'Rare genetic neurological disorder' 'Distal monosomy 1q' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Distal monosomy 1q' SubClassOf 'Partial deletion of the long arm of chromosome 1' 'Distal monosomy 1q' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 http://www.orpha.net/ORDO/Orphanet_98628 Syndromic corneal dystrophy 'Syndromic corneal dystrophy' SubClassOf 'Corneal dystrophy' 'Syndromic corneal dystrophy' SubClassOf 'Corneal dystrophy' 'Syndromic corneal dystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Syndromic corneal dystrophy' EquivalentTo 'Corneal dystrophy' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021127) http://www.orpha.net/ORDO/Orphanet_99961 Benign recurrent intrahepatic cholestasis type 2 'Benign recurrent intrahepatic cholestasis type 2' SubClassOf 'Benign recurrent intrahepatic cholestasis' 'Benign recurrent intrahepatic cholestasis type 2' SubClassOf 'Benign recurrent intrahepatic cholestasis' http://www.orpha.net/ORDO/Orphanet_99960 Benign recurrent intrahepatic cholestasis type 1 'Benign recurrent intrahepatic cholestasis type 1' SubClassOf 'Benign recurrent intrahepatic cholestasis' 'Benign recurrent intrahepatic cholestasis type 1' SubClassOf 'Progressive familial intrahepatic cholestasis' 'Benign recurrent intrahepatic cholestasis type 1' SubClassOf 'Benign recurrent intrahepatic cholestasis' http://www.orpha.net/ORDO/Orphanet_98632 Glaucoma associated with neural crest cell migration anomaly 'Glaucoma associated with neural crest cell migration anomaly' SubClassOf 'Secondary dysgenetic glaucoma' 'Glaucoma associated with neural crest cell migration anomaly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021635 'Glaucoma associated with neural crest cell migration anomaly' SubClassOf 'Secondary dysgenetic glaucoma' http://www.orpha.net/ORDO/Orphanet_98631 Secondary dysgenetic glaucoma 'Secondary dysgenetic glaucoma' SubClassOf 'Hereditary glaucoma' 'Secondary dysgenetic glaucoma' SubClassOf 'Hereditary glaucoma' http://www.orpha.net/ORDO/Orphanet_98634 Iridogoniodysgenesis 'Iridogoniodysgenesis' SubClassOf 'Glaucoma associated with neural crest cell migration anomaly' 'Iridogoniodysgenesis' SubClassOf 'Glaucoma associated with neural crest cell migration anomaly' http://www.orpha.net/ORDO/Orphanet_98633 Goniodysgenesis 'Goniodysgenesis' SubClassOf 'Glaucoma associated with neural crest cell migration anomaly' 'Goniodysgenesis' SubClassOf 'Glaucoma associated with neural crest cell migration anomaly' http://www.orpha.net/ORDO/Orphanet_47045 Familial cold urticaria 'Familial cold urticaria' SubClassOf 'cold urticaria' 'Familial cold urticaria' SubClassOf 'Cryopyrin-associated periodic syndrome' 'Familial cold urticaria' SubClassOf 'cold urticaria' 'Familial cold urticaria' SubClassOf 'has_disease_location' some ('zone of skin' or ('part_of' some 'zone of skin')) 'Familial cold urticaria' SubClassOf 'Cryopyrin-associated periodic syndrome' 'Familial cold urticaria' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 http://www.ebi.ac.uk/efo/EFO_0008490 ampulla of Vater adenocarcinoma 'ampulla of Vater adenocarcinoma' SubClassOf 'Ampulla of Vater Carcinoma' 'ampulla of Vater adenocarcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002665 'ampulla of Vater adenocarcinoma' SubClassOf 'Duodenal Adenocarcinoma' 'ampulla of Vater adenocarcinoma' SubClassOf 'Ampulla of Vater Carcinoma' http://www.ebi.ac.uk/efo/EFO_0008491 atypical ductal hyperplasia 'atypical ductal hyperplasia' SubClassOf 'ductal breast hyperplasia' 'atypical ductal hyperplasia' SubClassOf 'ductal breast hyperplasia' http://www.ebi.ac.uk/efo/EFO_0008492 breast hyperplasia 'breast hyperplasia' SubClassOf 'breast neoplasm' 'breast hyperplasia' SubClassOf 'breast neoplasm' http://www.ebi.ac.uk/efo/EFO_0008493 cerebral small vessel disease 'cerebral small vessel disease' SubClassOf 'cerebrovascular disorder' 'cerebral small vessel disease' SubClassOf 'cerebrovascular disorder' 'cerebral small vessel disease' SubClassOf 'Genetic central nervous system and retinal vascular disease' http://www.ebi.ac.uk/efo/EFO_0007162 babesiosis 'babesiosis' SubClassOf 'parasitic infection' 'babesiosis' SubClassOf 'parasitic infection' 'babesiosis' SubClassOf 'disease has feature' some http://purl.obolibrary.org/obo/MONDO_0002009 'babesiosis' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'babesiosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002428 http://www.ebi.ac.uk/efo/EFO_0007161 Avulavirus infectious disease 'Avulavirus infectious disease' SubClassOf 'viral disease' 'Avulavirus infectious disease' SubClassOf 'Paramyxoviridae infectious disease' 'Avulavirus infectious disease' SubClassOf 'viral disease' http://www.ebi.ac.uk/efo/EFO_0007160 autoimmune thrombocytopenic purpura 'autoimmune thrombocytopenic purpura' SubClassOf 'autoimmune disease' 'autoimmune thrombocytopenic purpura' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043768 'autoimmune thrombocytopenic purpura' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019098 'autoimmune thrombocytopenic purpura' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004680 'autoimmune thrombocytopenic purpura' SubClassOf 'autoimmune disease' 'autoimmune thrombocytopenic purpura' SubClassOf 'has_disease_location' some 'platelet' http://www.ebi.ac.uk/efo/EFO_0007188 Bunyaviridae infectious disease 'Bunyaviridae infectious disease' SubClassOf 'viral disease' 'Bunyaviridae infectious disease' SubClassOf 'viral disease' http://www.ebi.ac.uk/efo/EFO_0007187 bullous pemphigoid 'bullous pemphigoid' SubClassOf 'bullous skin disease' 'bullous pemphigoid' SubClassOf 'bullous skin disease' 'bullous pemphigoid' SubClassOf 'autoimmune bullous skin disease' http://www.ebi.ac.uk/efo/EFO_0007186 bulbar polio 'bulbar polio' SubClassOf 'motor neuron disease' 'bulbar polio' SubClassOf 'has_disease_location' some 'motor neuron' 'bulbar polio' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000341 'bulbar polio' SubClassOf 'nervous system disease' 'bulbar polio' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015141 http://www.ebi.ac.uk/efo/EFO_0007185 brucellosis 'brucellosis' SubClassOf 'bacterial disease' 'brucellosis' SubClassOf 'bacterial disease' 'brucellosis' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'brucellosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000314 http://www.orpha.net/ORDO/Orphanet_3186 Holoprosencephaly - radial heart renal anomalies 'Holoprosencephaly - radial heart renal anomalies' SubClassOf 'Syndromic renal or urinary tract malformation' 'Holoprosencephaly - radial heart renal anomalies' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Holoprosencephaly - radial heart renal anomalies' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Holoprosencephaly - radial heart renal anomalies' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Holoprosencephaly - radial heart renal anomalies' SubClassOf 'Syndromic renal or urinary tract malformation' 'Holoprosencephaly - radial heart renal anomalies' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_3184 Steatocystoma multiplex - natal teeth 'Steatocystoma multiplex - natal teeth' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Steatocystoma multiplex - natal teeth' SubClassOf 'Genetic sebaceous gland anomaly' 'Steatocystoma multiplex - natal teeth' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Steatocystoma multiplex - natal teeth' SubClassOf 'Genetic sebaceous gland anomaly' http://www.ebi.ac.uk/efo/EFO_0007189 Caliciviridae infectious disease 'Caliciviridae infectious disease' SubClassOf 'viral disease' 'Caliciviridae infectious disease' SubClassOf 'viral disease' http://www.orpha.net/ORDO/Orphanet_98636 Corneoiridogoniodysgenesis 'Corneoiridogoniodysgenesis' SubClassOf 'Glaucoma associated with neural crest cell migration anomaly' 'Corneoiridogoniodysgenesis' SubClassOf 'Glaucoma associated with neural crest cell migration anomaly' http://www.orpha.net/ORDO/Orphanet_98635 Corneogoniodysgenesis 'Corneogoniodysgenesis' SubClassOf 'Glaucoma associated with neural crest cell migration anomaly' 'Corneogoniodysgenesis' SubClassOf 'Glaucoma associated with neural crest cell migration anomaly' http://www.orpha.net/ORDO/Orphanet_98638 Rare disease with glaucoma as a major feature 'Rare disease with glaucoma as a major feature' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Rare disease with glaucoma as a major feature' SubClassOf 'eye disease' http://www.orpha.net/ORDO/Orphanet_98637 Secondary glaucoma due to a proliferation and differentiation anomaly 'Secondary glaucoma due to a proliferation and differentiation anomaly' SubClassOf 'Secondary dysgenetic glaucoma' 'Secondary glaucoma due to a proliferation and differentiation anomaly' SubClassOf 'Secondary dysgenetic glaucoma' http://www.orpha.net/ORDO/Orphanet_35069 Infantile neuroaxonal dystrophy 'Infantile neuroaxonal dystrophy' SubClassOf 'Genetic peripheral neuropathy' 'Infantile neuroaxonal dystrophy' SubClassOf 'PLA2G6-associated neurodegeneration' 'Infantile neuroaxonal dystrophy' SubClassOf 'Genetic peripheral neuropathy' 'Infantile neuroaxonal dystrophy' SubClassOf 'PLA2G6-associated neurodegeneration' http://www.orpha.net/ORDO/Orphanet_98641 Syndromic cataract 'Syndromic cataract' SubClassOf 'cataract' 'Syndromic cataract' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Syndromic cataract' EquivalentTo 'cataract' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021127) 'Syndromic cataract' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://www.orpha.net/ORDO/Orphanet_98643 Systemic disease with cataract 'Systemic disease with cataract' SubClassOf 'Syndromic cataract' 'Systemic disease with cataract' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0015938 and ('disease has feature' some 'cataract') 'Systemic disease with cataract' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015938 'Systemic disease with cataract' SubClassOf 'disease has feature' some 'cataract' 'Systemic disease with cataract' SubClassOf 'Syndromic cataract' http://www.orpha.net/ORDO/Orphanet_98645 Cerebral disease with cataract 'Cerebral disease with cataract' SubClassOf 'Systemic disease with cataract' 'Cerebral disease with cataract' SubClassOf 'Systemic disease with cataract' http://www.orpha.net/ORDO/Orphanet_98644 Cataract associated with a metabolic disease 'Cataract associated with a metabolic disease' SubClassOf 'Systemic disease with cataract' 'Cataract associated with a metabolic disease' SubClassOf 'disease has feature' some 'metabolic disease' 'Cataract associated with a metabolic disease' SubClassOf 'Systemic disease with cataract' http://www.ebi.ac.uk/efo/EFO_0007191 cannabis dependence 'cannabis dependence' SubClassOf 'drug dependence' 'cannabis dependence' SubClassOf 'drug dependence' http://www.ebi.ac.uk/efo/EFO_0007190 campylobacteriosis 'campylobacteriosis' SubClassOf 'bacterial disease' 'campylobacteriosis' SubClassOf 'bacterial disease' 'campylobacteriosis' SubClassOf 'has_disease_location' some ('intestine' or ('part_of' some 'intestine')) 'campylobacteriosis' SubClassOf 'disease has feature' some 'dysentery' 'campylobacteriosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000314 http://www.orpha.net/ORDO/Orphanet_3180 Spondylocamptodactyly syndrome 'Spondylocamptodactyly syndrome' SubClassOf 'Spondylodysplastic dysplasia' 'Spondylocamptodactyly syndrome' SubClassOf 'Spondylodysplastic dysplasia' http://www.ebi.ac.uk/efo/EFO_0007195 cat-scratch disease 'cat-scratch disease' SubClassOf 'bacterial disease' 'cat-scratch disease' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'cat-scratch disease' SubClassOf 'bacterial disease' 'cat-scratch disease' SubClassOf 'bartonellosis' 'cat-scratch disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002052 http://www.ebi.ac.uk/efo/EFO_0007194 Cardiovirus infectious disease 'Cardiovirus infectious disease' SubClassOf 'viral disease' 'Cardiovirus infectious disease' SubClassOf 'Picornaviridae infectious disease' 'Cardiovirus infectious disease' SubClassOf 'viral disease' http://www.ebi.ac.uk/efo/EFO_0007193 carbamoyl phosphate synthetase I deficiency disease 'carbamoyl phosphate synthetase I deficiency disease' SubClassOf 'metabolic disease' 'carbamoyl phosphate synthetase I deficiency disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004739 'carbamoyl phosphate synthetase I deficiency disease' SubClassOf 'metabolic disease' 'carbamoyl phosphate synthetase I deficiency disease' SubClassOf 'Disorder of urea cycle metabolism and ammonia detoxification' http://www.ebi.ac.uk/efo/EFO_0007192 Caplan's syndrome 'Caplan's syndrome' SubClassOf 'pneumoconiosis' 'Caplan's syndrome' SubClassOf 'pneumoconiosis' http://www.ebi.ac.uk/efo/EFO_0007177 border disease 'border disease' SubClassOf 'animal disease' 'border disease' SubClassOf 'animal disease' http://purl.obolibrary.org/obo/CHEBI_35280 L-proline betaine 'L-proline betaine' SubClassOf 'amino acid' 'L-proline betaine' SubClassOf 'amino acid' http://www.ebi.ac.uk/efo/EFO_0007176 bone giant cell tumor 'bone giant cell tumor' SubClassOf 'sarcoma' 'bone giant cell tumor' SubClassOf 'sarcoma' 'bone giant cell tumor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021054 http://www.orpha.net/ORDO/Orphanet_36383 Familial vascular leukoencephalopathy 'Familial vascular leukoencephalopathy' SubClassOf 'Genetic central nervous system and retinal vascular disease' 'Familial vascular leukoencephalopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018790 'Familial vascular leukoencephalopathy' SubClassOf 'brain disease' http://www.ebi.ac.uk/efo/EFO_0007175 blind loop syndrome 'blind loop syndrome' SubClassOf 'has_disease_location' some ('intestine' or ('part_of' some 'intestine')) 'blind loop syndrome' SubClassOf 'digestive system disease' http://www.orpha.net/ORDO/Orphanet_3199 Stimmler syndrome 'Stimmler syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Stimmler syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Stimmler syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Stimmler syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_36382 Familial cervical artery dissections 'Familial cervical artery dissections' SubClassOf 'Genetic central nervous system and retinal vascular disease' 'Familial cervical artery dissections' EquivalentTo 'cervical artery dissection' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) 'Familial cervical artery dissections' SubClassOf 'cervical artery dissection' 'Familial cervical artery dissections' SubClassOf 'Genetic central nervous system and retinal vascular disease' http://www.ebi.ac.uk/efo/EFO_0007174 blastomycosis 'blastomycosis' SubClassOf 'infectious disease' 'blastomycosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000308 'blastomycosis' SubClassOf 'infectious disease' http://www.orpha.net/ORDO/Orphanet_3197 Hereditary hyperekplexia 'Hereditary hyperekplexia' SubClassOf 'Neurometabolic disease' 'Hereditary hyperekplexia' SubClassOf 'Metabolic disease involving other neurotransmitter deficiency' 'Hereditary hyperekplexia' SubClassOf 'Neurometabolic disease' 'Hereditary hyperekplexia' SubClassOf 'Metabolic disease involving other neurotransmitter deficiency' 'Hereditary hyperekplexia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017658 'Hereditary hyperekplexia' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0017658 and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) 'Hereditary hyperekplexia' SubClassOf 'Rare genetic tremor disorder' http://www.orpha.net/ORDO/Orphanet_3196 Steroid dehydrogenase deficiency - dental anomalies 'Steroid dehydrogenase deficiency - dental anomalies' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Steroid dehydrogenase deficiency - dental anomalies' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Steroid dehydrogenase deficiency - dental anomalies' SubClassOf 'Developmental anomaly of metabolic origin' http://www.orpha.net/ORDO/Orphanet_36387 Generalized epilepsy with febrile seizures-plus 'Generalized epilepsy with febrile seizures-plus' SubClassOf 'Infantile epilepsy syndrome' 'Generalized epilepsy with febrile seizures-plus' SubClassOf 'Infantile epilepsy syndrome' 'Generalized epilepsy with febrile seizures-plus' SubClassOf 'generalised epilepsy' http://www.orpha.net/ORDO/Orphanet_36386 Hereditary sensory and autonomic neuropathy type 1 'Hereditary sensory and autonomic neuropathy type 1' SubClassOf 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement' 'Hereditary sensory and autonomic neuropathy type 1' SubClassOf 'Autosomal dominant hereditary sensory and autonomic neuropathy' 'Hereditary sensory and autonomic neuropathy type 1' SubClassOf 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement' 'Hereditary sensory and autonomic neuropathy type 1' SubClassOf 'Autosomal dominant hereditary sensory and autonomic neuropathy' http://www.ebi.ac.uk/efo/EFO_0007178 borna disease 'borna disease' SubClassOf 'encephalomyelitis' 'borna disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024318 'borna disease' SubClassOf 'encephalomyelitis' 'borna disease' SubClassOf 'Mononegavirales infectious disease' http://www.orpha.net/ORDO/Orphanet_3194 Stern-Lubinsky-Durrie syndrome 'Stern-Lubinsky-Durrie syndrome' SubClassOf 'Syndromic corneal dystrophy' 'Stern-Lubinsky-Durrie syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Stern-Lubinsky-Durrie syndrome' SubClassOf 'Syndromic corneal dystrophy' 'Stern-Lubinsky-Durrie syndrome' SubClassOf 'Rare genetic neurological disorder' 'Stern-Lubinsky-Durrie syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Stern-Lubinsky-Durrie syndrome' SubClassOf 'Ectodermal dysplasia syndrome' http://www.orpha.net/ORDO/Orphanet_98647 Cardiac disease with cataract 'Cardiac disease with cataract' SubClassOf 'Systemic disease with cataract' 'Cardiac disease with cataract' SubClassOf 'Systemic disease with cataract' 'Cardiac disease with cataract' SubClassOf 'heart disease' http://www.orpha.net/ORDO/Orphanet_98646 Renal disease with cataract 'Renal disease with cataract' SubClassOf 'Systemic disease with cataract' 'Renal disease with cataract' SubClassOf 'kidney disease' 'Renal disease with cataract' SubClassOf 'Systemic disease with cataract' http://www.orpha.net/ORDO/Orphanet_98649 Dentocutaneous disease with cataract 'Dentocutaneous disease with cataract' SubClassOf 'Systemic disease with cataract' 'Dentocutaneous disease with cataract' SubClassOf 'Systemic disease with cataract' http://www.orpha.net/ORDO/Orphanet_98648 Musculoskeletal disease with cataract 'Musculoskeletal disease with cataract' SubClassOf 'Systemic disease with cataract' 'Musculoskeletal disease with cataract' SubClassOf 'Systemic disease with cataract' 'Musculoskeletal disease with cataract' SubClassOf 'musculoskeletal system disease' http://www.orpha.net/ORDO/Orphanet_98650 Craniofacial anomaly with cataract 'Craniofacial anomaly with cataract' SubClassOf 'Systemic disease with cataract' 'Craniofacial anomaly with cataract' SubClassOf 'Systemic disease with cataract' http://www.orpha.net/ORDO/Orphanet_165707 Syndromic urogenital tract malformation 'Syndromic urogenital tract malformation' SubClassOf 'Genetic urogenital tract malformation' 'Syndromic urogenital tract malformation' EquivalentTo 'Genetic urogenital tract malformation' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021127) 'Syndromic urogenital tract malformation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Syndromic urogenital tract malformation' SubClassOf 'Genetic urogenital tract malformation' 'Syndromic urogenital tract malformation' SubClassOf 'disease of genitourinary system' http://www.orpha.net/ORDO/Orphanet_98652 Lens size anomaly 'Lens size anomaly' SubClassOf 'Genetic lens and zonula anomaly' 'Lens size anomaly' SubClassOf 'Genetic lens and zonula anomaly' http://www.orpha.net/ORDO/Orphanet_404493 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency' SubClassOf 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome' 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency' SubClassOf 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome' http://www.orpha.net/ORDO/Orphanet_98653 Lens position anomaly 'Lens position anomaly' SubClassOf 'Genetic lens and zonula anomaly' 'Lens position anomaly' SubClassOf 'lens disease' 'Lens position anomaly' SubClassOf 'Genetic lens and zonula anomaly' http://www.orpha.net/ORDO/Orphanet_98655 Lens shape anomaly 'Lens shape anomaly' SubClassOf 'Genetic lens and zonula anomaly' 'Lens shape anomaly' SubClassOf 'Genetic lens and zonula anomaly' http://www.ebi.ac.uk/efo/EFO_0007180 bovine respiratory disease complex 'bovine respiratory disease complex' SubClassOf 'respiratory system disease' 'bovine respiratory disease complex' SubClassOf 'respiratory system disease' http://www.orpha.net/ORDO/Orphanet_139444 Leukoencephalopathy with bilateral anterior temporal lobe cysts 'Leukoencephalopathy with bilateral anterior temporal lobe cysts' SubClassOf 'Leukodystrophy' 'Leukoencephalopathy with bilateral anterior temporal lobe cysts' SubClassOf 'Leukodystrophy' http://www.orpha.net/ORDO/Orphanet_3193 Supravalvular aortic stenosis 'Supravalvular aortic stenosis' SubClassOf 'Genetic cardiac anomaly' 'Supravalvular aortic stenosis' SubClassOf 'aortic stenosis' 'Supravalvular aortic stenosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020286 'Supravalvular aortic stenosis' SubClassOf 'Genetic cardiac anomaly' http://www.orpha.net/ORDO/Orphanet_3191 Subaortic stenosis - short stature 'Subaortic stenosis - short stature' SubClassOf 'Syndromic corneal dystrophy' 'Subaortic stenosis - short stature' SubClassOf 'Syndromic corneal dystrophy' http://www.orpha.net/ORDO/Orphanet_139447 Progressive cavitating leukoencephalopathy 'Progressive cavitating leukoencephalopathy' SubClassOf 'Leukodystrophy' 'Progressive cavitating leukoencephalopathy' SubClassOf 'Leukodystrophy' http://www.ebi.ac.uk/efo/EFO_0007184 bronchopneumonia 'bronchopneumonia' SubClassOf 'pneumonia' 'bronchopneumonia' SubClassOf 'pneumonia' http://www.ebi.ac.uk/efo/EFO_0007183 bronchiolitis obliterans 'bronchiolitis obliterans' SubClassOf 'interstitial lung disease' 'bronchiolitis obliterans' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002465 'bronchiolitis obliterans' SubClassOf 'pneumonia' 'bronchiolitis obliterans' SubClassOf 'interstitial lung disease' http://www.orpha.net/ORDO/Orphanet_139441 Hypomyelination with atrophy of basal ganglia and cerebellum 'Hypomyelination with atrophy of basal ganglia and cerebellum' SubClassOf 'Leukodystrophy' 'Hypomyelination with atrophy of basal ganglia and cerebellum' SubClassOf 'Leukodystrophy' http://www.ebi.ac.uk/efo/EFO_0007182 Brill-Zinsser disease 'Brill-Zinsser disease' SubClassOf 'typhus' 'Brill-Zinsser disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019362 http://www.ebi.ac.uk/efo/EFO_0007181 bovine virus diarrhea-mucosal disease 'bovine virus diarrhea-mucosal disease' SubClassOf 'animal disease' 'bovine virus diarrhea-mucosal disease' SubClassOf 'animal disease' http://www.orpha.net/ORDO/Orphanet_3124 Saccharopinuria 'Saccharopinuria' SubClassOf 'Disorder of lysine and hydroxylysine metabolism' 'Saccharopinuria' SubClassOf 'Disorder of lysine and hydroxylysine metabolism' http://www.orpha.net/ORDO/Orphanet_60041 Congenital heart block 'Congenital heart block' SubClassOf 'Genetic cardiac rhythm disease' 'Congenital heart block' SubClassOf 'Genetic cardiac rhythm disease' 'Congenital heart block' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000465 http://www.orpha.net/ORDO/Orphanet_60040 Megalencephaly-capillary malformation-polymicrogyria syndrome 'Megalencephaly-capillary malformation-polymicrogyria syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Megalencephaly-capillary malformation-polymicrogyria syndrome' SubClassOf 'Overgrowth syndrome' 'Megalencephaly-capillary malformation-polymicrogyria syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Megalencephaly-capillary malformation-polymicrogyria syndrome' SubClassOf 'Overgrowth syndrome' 'Megalencephaly-capillary malformation-polymicrogyria syndrome' SubClassOf 'Genetic vascular anomaly' 'Megalencephaly-capillary malformation-polymicrogyria syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 'Megalencephaly-capillary malformation-polymicrogyria syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019293 'Megalencephaly-capillary malformation-polymicrogyria syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018719 http://purl.obolibrary.org/obo/UBERON_0007808 adipose tissue of abdominal region 'adipose tissue of abdominal region' SubClassOf 'part_of' some 'abdomen' 'adipose tissue of abdominal region' EquivalentTo 'adipose tissue' and ('part_of' some 'abdomen') http://www.orpha.net/ORDO/Orphanet_3121 Ruvalcaba syndrome 'Ruvalcaba syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Ruvalcaba syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Ruvalcaba syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Ruvalcaba syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Ruvalcaba syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 http://www.orpha.net/ORDO/Orphanet_99901 Acyl-CoA dehydrogenase 9 deficiency 'Acyl-CoA dehydrogenase 9 deficiency' SubClassOf 'Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy' 'Acyl-CoA dehydrogenase 9 deficiency' SubClassOf 'Exercise intolerance with lactic acidosis' 'Acyl-CoA dehydrogenase 9 deficiency' SubClassOf 'Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy' 'Acyl-CoA dehydrogenase 9 deficiency' SubClassOf 'Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy' 'Acyl-CoA dehydrogenase 9 deficiency' SubClassOf 'Mitochondrial disease with hypertrophic cardiomyopathy' 'Acyl-CoA dehydrogenase 9 deficiency' SubClassOf 'Exercise intolerance with lactic acidosis' 'Acyl-CoA dehydrogenase 9 deficiency' SubClassOf 'Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy' http://purl.obolibrary.org/obo/CHEBI_50885 fludrocortisone 'fludrocortisone' SubClassOf 'has_role' some 'hormone role' http://www.orpha.net/ORDO/Orphanet_99900 Long chain acyl-CoA dehydrogenase deficiency 'Long chain acyl-CoA dehydrogenase deficiency' SubClassOf 'Metabolic disease due to other fatty acid oxidation disorder' 'Long chain acyl-CoA dehydrogenase deficiency' SubClassOf 'Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy' 'Long chain acyl-CoA dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044976 'Long chain acyl-CoA dehydrogenase deficiency' SubClassOf 'Metabolic disease due to other fatty acid oxidation disorder' 'Long chain acyl-CoA dehydrogenase deficiency' SubClassOf 'Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_3129 Sarcosinemia 'Sarcosinemia' SubClassOf 'Disorder of serine or glycine metabolism' 'Sarcosinemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044976 'Sarcosinemia' SubClassOf 'Disorder of serine or glycine metabolism' 'Sarcosinemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0045020 http://www.orpha.net/ORDO/Orphanet_3128 Sakati-Nyhan syndrome 'Sakati-Nyhan syndrome' SubClassOf 'Syndromic craniosynostosis' 'Sakati-Nyhan syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000078 'Sakati-Nyhan syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007 http://www.orpha.net/ORDO/Orphanet_284271 Autosomal recessive cerebellar ataxia - psychomotor retardation 'Autosomal recessive cerebellar ataxia - psychomotor retardation' SubClassOf 'Autosomal recessive syndromic cerebellar ataxia' 'Autosomal recessive cerebellar ataxia - psychomotor retardation' SubClassOf 'Autosomal recessive syndromic cerebellar ataxia' http://www.orpha.net/ORDO/Orphanet_85336 X-linked neurodegenerative syndrome, Hamel type 'X-linked neurodegenerative syndrome, Hamel type' SubClassOf 'Genetic neurodegenerative disease' 'X-linked neurodegenerative syndrome, Hamel type' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked neurodegenerative syndrome, Hamel type' SubClassOf 'Genetic neurodegenerative disease' 'X-linked neurodegenerative syndrome, Hamel type' SubClassOf 'X-linked syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_85338 X-linked intellectual disability - ataxia - apraxia 'X-linked intellectual disability - ataxia - apraxia' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability - ataxia - apraxia' SubClassOf 'X-linked cerebellar ataxia' 'X-linked intellectual disability - ataxia - apraxia' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability - ataxia - apraxia' SubClassOf 'X-linked cerebellar ataxia' http://www.ebi.ac.uk/efo/EFO_0007199 central nervous system tuberculosis 'central nervous system tuberculosis' SubClassOf 'Tuberculosis' 'central nervous system tuberculosis' SubClassOf 'central nervous system disease' 'central nervous system tuberculosis' SubClassOf 'disease has feature' some http://purl.obolibrary.org/obo/MONDO_0019843 'central nervous system tuberculosis' SubClassOf 'central nervous system infection' 'central nervous system tuberculosis' SubClassOf 'Tuberculosis' 'central nervous system tuberculosis' SubClassOf 'has_disease_location' some ('central nervous system' or ('part_of' some 'central nervous system')) 'central nervous system tuberculosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000368 http://www.orpha.net/ORDO/Orphanet_3135 Familial Scheuermann disease 'Familial Scheuermann disease' SubClassOf 'Osteochondrosis of genetic origin' 'Familial Scheuermann disease' SubClassOf 'Osteochondrosis of genetic origin' http://www.ebi.ac.uk/efo/EFO_0007198 central nervous system AIDS arteritis 'central nervous system AIDS arteritis' SubClassOf 'HIV infection' 'central nervous system AIDS arteritis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002095 'central nervous system AIDS arteritis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024318 'central nervous system AIDS arteritis' SubClassOf 'central nervous system cancer' 'central nervous system AIDS arteritis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003346 'central nervous system AIDS arteritis' SubClassOf 'HIV infection' http://www.orpha.net/ORDO/Orphanet_3134 SCARF syndrome 'SCARF syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'SCARF syndrome' SubClassOf 'Syndromic craniosynostosis' 'SCARF syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'SCARF syndrome' SubClassOf 'Cutis laxa' 'SCARF syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'SCARF syndrome' SubClassOf 'Syndromic craniosynostosis' 'SCARF syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'SCARF syndrome' SubClassOf 'Cutis laxa' http://www.ebi.ac.uk/efo/EFO_0007197 cecal benign neoplasm 'cecal benign neoplasm' SubClassOf 'benign neoplasm' 'cecal benign neoplasm' SubClassOf 'benign neoplasm' http://www.orpha.net/ORDO/Orphanet_3133 Say-Field-Coldwell syndrome 'Say-Field-Coldwell syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Say-Field-Coldwell syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' http://www.orpha.net/ORDO/Orphanet_85331 X-linked intellectual disability - hypogonadism - ichthyosis - obesity - short stature 'X-linked intellectual disability - hypogonadism - ichthyosis - obesity - short stature' SubClassOf 'Autosomal ichthyosis syndrome with other associated signs' 'X-linked intellectual disability - hypogonadism - ichthyosis - obesity - short stature' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability - hypogonadism - ichthyosis - obesity - short stature' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'X-linked intellectual disability - hypogonadism - ichthyosis - obesity - short stature' SubClassOf 'Autosomal ichthyosis syndrome with other associated signs' 'X-linked intellectual disability - hypogonadism - ichthyosis - obesity - short stature' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability - hypogonadism - ichthyosis - obesity - short stature' SubClassOf 'X-linked ichthyosis syndrome' 'X-linked intellectual disability - hypogonadism - ichthyosis - obesity - short stature' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.ebi.ac.uk/efo/EFO_0007196 Cauda equina syndrome 'Cauda equina syndrome' SubClassOf 'peripheral nervous system disease' 'Cauda equina syndrome' SubClassOf 'peripheral nervous system disease' 'Cauda equina syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 http://www.orpha.net/ORDO/Orphanet_3132 Say-Barber-Miller syndrome 'Say-Barber-Miller syndrome' SubClassOf 'Other immunodeficiency syndrome with predominantly antibody defects' 'Say-Barber-Miller syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Say-Barber-Miller syndrome' SubClassOf 'Other immunodeficiency syndrome with predominantly antibody defects' 'Say-Barber-Miller syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Say-Barber-Miller syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Say-Barber-Miller syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 http://www.orpha.net/ORDO/Orphanet_85330 X-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis 'X-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis' SubClassOf 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' 'X-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis' SubClassOf 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' 'X-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016055 http://www.orpha.net/ORDO/Orphanet_35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency 'T-B+ severe combined immunodeficiency due to JAK3 deficiency' SubClassOf 'T-B+ severe combined immunodeficiency' 'T-B+ severe combined immunodeficiency due to JAK3 deficiency' SubClassOf 'T-B+ severe combined immunodeficiency' http://www.orpha.net/ORDO/Orphanet_85332 X-linked intellectual disability-retinitis pigmentosa syndrome 'X-linked intellectual disability-retinitis pigmentosa syndrome' SubClassOf 'Partial monosomy of the short arm of chromosome X' 'X-linked intellectual disability-retinitis pigmentosa syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability-retinitis pigmentosa syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000761 'X-linked intellectual disability-retinitis pigmentosa syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'X-linked intellectual disability-retinitis pigmentosa syndrome' SubClassOf 'Partial monosomy of the short arm of chromosome X' 'X-linked intellectual disability-retinitis pigmentosa syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_85335 Fried syndrome 'Fried syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Fried syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Fried syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Fried syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Fried syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_85334 X-linked neurodegenerative syndrome, Bertini type 'X-linked neurodegenerative syndrome, Bertini type' SubClassOf 'Genetic neurodegenerative disease' 'X-linked neurodegenerative syndrome, Bertini type' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked neurodegenerative syndrome, Bertini type' SubClassOf 'Genetic neurodegenerative disease' 'X-linked neurodegenerative syndrome, Bertini type' SubClassOf 'X-linked syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_3138 Ulnar-mammary syndrome 'Ulnar-mammary syndrome' SubClassOf 'Syndromic anorectal malformation' 'Ulnar-mammary syndrome' SubClassOf 'Genetic syndrome with limb reduction defects' 'Ulnar-mammary syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007 'Ulnar-mammary syndrome' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' 'Ulnar-mammary syndrome' SubClassOf 'Syndromic anorectal malformation' 'Ulnar-mammary syndrome' SubClassOf 'Genetic syndrome with limb reduction defects' 'Ulnar-mammary syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015853 http://www.orpha.net/ORDO/Orphanet_3137 Alpha-N-acetylgalactosaminidase deficiency 'Alpha-N-acetylgalactosaminidase deficiency' SubClassOf 'Neurometabolic disease' 'Alpha-N-acetylgalactosaminidase deficiency' SubClassOf 'Oligosaccharidosis' 'Alpha-N-acetylgalactosaminidase deficiency' SubClassOf 'Neurometabolic disease' 'Alpha-N-acetylgalactosaminidase deficiency' SubClassOf 'Oligosaccharidosis' 'Alpha-N-acetylgalactosaminidase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016397 'Alpha-N-acetylgalactosaminidase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044976 'Alpha-N-acetylgalactosaminidase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 http://purl.obolibrary.org/obo/CHEBI_59219 caerulein 'caerulein' EquivalentTo 'has_role' some 'drug' http://www.orpha.net/ORDO/Orphanet_85326 X-linked intellectual disability, Stoll type 'X-linked intellectual disability, Stoll type' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'X-linked intellectual disability, Stoll type' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability, Stoll type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'X-linked intellectual disability, Stoll type' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'X-linked intellectual disability, Stoll type' SubClassOf 'X-linked syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_284289 Adult-onset autosomal recessive cerebellar ataxia 'Adult-onset autosomal recessive cerebellar ataxia' SubClassOf 'Autosomal recessive cerebellar ataxia' 'Adult-onset autosomal recessive cerebellar ataxia' SubClassOf 'Autosomal recessive cerebellar ataxia' http://www.orpha.net/ORDO/Orphanet_85325 X-linked intellectual disability, Stevenson type 'X-linked intellectual disability, Stevenson type' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability, Stevenson type' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'X-linked intellectual disability, Stevenson type' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability, Stevenson type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'X-linked intellectual disability, Stevenson type' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_85328 X-linked intellectual disability, Turner type 'X-linked intellectual disability, Turner type' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability, Turner type' SubClassOf 'X-linked syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_85327 X-linked intellectual disability - acromegaly - hyperactivity 'X-linked intellectual disability - acromegaly - hyperactivity' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability - acromegaly - hyperactivity' SubClassOf 'X-linked syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_85329 X-linked intellectual disability - hypotonia - facial dysmorphism - aggressive behavior 'X-linked intellectual disability - hypotonia - facial dysmorphism - aggressive behavior' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability - hypotonia - facial dysmorphism - aggressive behavior' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'X-linked intellectual disability - hypotonia - facial dysmorphism - aggressive behavior' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability - hypotonia - facial dysmorphism - aggressive behavior' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'X-linked intellectual disability - hypotonia - facial dysmorphism - aggressive behavior' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_3145 Nephrogenic diabetes insipidus - intracranial calcification 'Nephrogenic diabetes insipidus - intracranial calcification' SubClassOf 'Genetic renal tubular disease' 'Nephrogenic diabetes insipidus - intracranial calcification' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Nephrogenic diabetes insipidus - intracranial calcification' SubClassOf 'Genetic renal tubular disease' 'Nephrogenic diabetes insipidus - intracranial calcification' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019744 http://www.orpha.net/ORDO/Orphanet_3144 Schneckenbecken dysplasia 'Schneckenbecken dysplasia' SubClassOf 'Congenital disorder of glycosylation-related bone disorder' 'Schneckenbecken dysplasia' SubClassOf 'Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis' 'Schneckenbecken dysplasia' SubClassOf 'Spondylodysplastic dysplasia' 'Schneckenbecken dysplasia' SubClassOf 'Congenital disorder of glycosylation-related bone disorder' 'Schneckenbecken dysplasia' SubClassOf 'Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis' 'Schneckenbecken dysplasia' SubClassOf 'osteochondrodysplasia' 'Schneckenbecken dysplasia' SubClassOf 'Spondylodysplastic dysplasia' http://www.orpha.net/ORDO/Orphanet_85320 X-linked intellectual disability - macrocephaly - macroorchidism 'X-linked intellectual disability - macrocephaly - macroorchidism' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability - macrocephaly - macroorchidism' SubClassOf 'X-linked syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_85322 X-linked intellectual disability, Pai type 'X-linked intellectual disability, Pai type' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability, Pai type' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'X-linked intellectual disability, Pai type' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability, Pai type' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'X-linked intellectual disability, Pai type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 http://www.orpha.net/ORDO/Orphanet_85321 Deafness - intellectual disability, Martin-Probst type 'Deafness - intellectual disability, Martin-Probst type' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Deafness - intellectual disability, Martin-Probst type' SubClassOf 'Syndromic genetic deafness' 'Deafness - intellectual disability, Martin-Probst type' SubClassOf 'X-linked syndromic intellectual disability' 'Deafness - intellectual disability, Martin-Probst type' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Deafness - intellectual disability, Martin-Probst type' SubClassOf 'Syndromic genetic deafness' 'Deafness - intellectual disability, Martin-Probst type' SubClassOf 'X-linked syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_85324 X-linked intellectual disability, Shrimpton type 'X-linked intellectual disability, Shrimpton type' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability, Shrimpton type' SubClassOf 'X-linked syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_85323 X-linked intellectual disability, Seemanova type 'X-linked intellectual disability, Seemanova type' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability, Seemanova type' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/CHEBI_50867 ciprofibrate 'ciprofibrate' SubClassOf 'has_role' some 'drug role' http://www.orpha.net/ORDO/Orphanet_98601 Eyebrow/eyelashes pigmentation anomaly 'Eyebrow/eyelashes pigmentation anomaly' SubClassOf 'Rare eyebrow/eyelashes anomaly' 'Eyebrow/eyelashes pigmentation anomaly' SubClassOf 'pigmentation disease' 'Eyebrow/eyelashes pigmentation anomaly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 'Eyebrow/eyelashes pigmentation anomaly' SubClassOf 'Rare eyebrow/eyelashes anomaly' http://www.orpha.net/ORDO/Orphanet_98600 Eyebrow/eyelashes distichiasis 'Eyebrow/eyelashes distichiasis' SubClassOf 'Rare eyebrow/eyelashes anomaly' 'Eyebrow/eyelashes distichiasis' SubClassOf 'Rare eyebrow/eyelashes anomaly' http://www.orpha.net/ORDO/Orphanet_60015 Parietal foramina 'Parietal foramina' SubClassOf 'Cleidocranial dysplasia and isolated cranial ossification defect' 'Parietal foramina' SubClassOf 'Cleidocranial dysplasia and isolated cranial ossification defect' 'Parietal foramina' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020018 'Parietal foramina' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 'Parietal foramina' SubClassOf 'Neural tube defect' http://www.orpha.net/ORDO/Orphanet_85317 X-linked intellectual disability - hypogammaglobulinemia - progressive neurological deterioration 'X-linked intellectual disability - hypogammaglobulinemia - progressive neurological deterioration' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'X-linked intellectual disability - hypogammaglobulinemia - progressive neurological deterioration' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability - hypogammaglobulinemia - progressive neurological deterioration' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'X-linked intellectual disability - hypogammaglobulinemia - progressive neurological deterioration' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'X-linked intellectual disability - hypogammaglobulinemia - progressive neurological deterioration' SubClassOf 'X-linked syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_85319 X-linked intellectual disability - epilepsy - progressive joint contractures - dysmorphism 'X-linked intellectual disability - epilepsy - progressive joint contractures - dysmorphism' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability - epilepsy - progressive joint contractures - dysmorphism' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'X-linked intellectual disability - epilepsy - progressive joint contractures - dysmorphism' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability - epilepsy - progressive joint contractures - dysmorphism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'X-linked intellectual disability - epilepsy - progressive joint contractures - dysmorphism' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_85318 X-linked intellectual disability - precocious puberty - obesity 'X-linked intellectual disability - precocious puberty - obesity' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability - precocious puberty - obesity' SubClassOf 'X-linked syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_3157 Septo-optic dysplasia 'Septo-optic dysplasia' SubClassOf 'Genetic syndrome with a central nervous system malformation as major feature' 'Septo-optic dysplasia' SubClassOf 'Syndromic optic nerve hypoplasia' 'Septo-optic dysplasia' SubClassOf 'Rare eye disease due to a differentiation anomaly' 'Septo-optic dysplasia' SubClassOf 'Syndromic developmental defect of the eye' 'Septo-optic dysplasia' SubClassOf 'Nervous system anomaly with eye involvement' 'Septo-optic dysplasia' SubClassOf 'Disease associated with non-acquired combined pituitary hormone deficiency' 'Septo-optic dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018609 'Septo-optic dysplasia' SubClassOf 'Combined pituitary hormone deficiencies, genetic forms' 'Septo-optic dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017120 'Septo-optic dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000429 'Septo-optic dysplasia' SubClassOf 'Rare eye disease due to a differentiation anomaly' 'Septo-optic dysplasia' SubClassOf 'Syndromic optic nerve hypoplasia' 'Septo-optic dysplasia' SubClassOf 'Syndromic developmental defect of the eye' 'Septo-optic dysplasia' SubClassOf 'Nervous system anomaly with eye involvement' 'Septo-optic dysplasia' SubClassOf 'Disease associated with non-acquired combined pituitary hormone deficiency' http://www.orpha.net/ORDO/Orphanet_60030 Loeys-Dietz syndrome 'Loeys-Dietz syndrome' SubClassOf 'Marfan and Marfan-related disorder' 'Loeys-Dietz syndrome' SubClassOf 'Rare disease with thoracic aortic aneurysm and aortic dissection' 'Loeys-Dietz syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 'Loeys-Dietz syndrome' SubClassOf 'Marfan and Marfan-related disorder' 'Loeys-Dietz syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Loeys-Dietz syndrome' SubClassOf 'Rare disease with thoracic aortic aneurysm and aortic dissection' http://www.orpha.net/ORDO/Orphanet_3156 Senior-Loken syndrome 'Senior-Loken syndrome' SubClassOf 'ciliopathy' 'Senior-Loken syndrome' SubClassOf 'Genetic vitreous-retinal disease' 'Senior-Loken syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019744 'Senior-Loken syndrome' SubClassOf 'ciliopathy' 'Senior-Loken syndrome' SubClassOf 'autosomal recessive disease' 'Senior-Loken syndrome' SubClassOf 'Genetic renal tubular disease' 'Senior-Loken syndrome' SubClassOf 'Genetic vitreous-retinal disease' 'Senior-Loken syndrome' SubClassOf 'has_disease_location' some 'cilium' http://purl.obolibrary.org/obo/CHEBI_48558 roxindole 'roxindole' SubClassOf 'has_role' some 'alpha-adrenergic antagonist' 'roxindole' SubClassOf 'has_role' some 'serotonergic drug' http://www.orpha.net/ORDO/Orphanet_3152 Sclerosteosis 'Sclerosteosis' SubClassOf 'Primary bone dysplasia with increased bone density' 'Sclerosteosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002185 'Sclerosteosis' SubClassOf 'Primary bone dysplasia with increased bone density' http://www.orpha.net/ORDO/Orphanet_3151 Multiple sclerosis - ichthyosis - factor VIII deficiency 'Multiple sclerosis - ichthyosis - factor VIII deficiency' SubClassOf 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' 'Multiple sclerosis - ichthyosis - factor VIII deficiency' SubClassOf 'Autosomal ichthyosis syndrome with other associated signs' 'Multiple sclerosis - ichthyosis - factor VIII deficiency' SubClassOf 'Rare hemorrhagic disorder due to a constitutional coagulation factors defect' 'Multiple sclerosis - ichthyosis - factor VIII deficiency' SubClassOf 'Autosomal ichthyosis syndrome with other associated signs' http://www.orpha.net/ORDO/Orphanet_35099 Isolated brachycephaly 'Isolated brachycephaly' SubClassOf 'Isolated craniosynostosis' 'Isolated brachycephaly' SubClassOf 'Craniostenosis associated with a strabismus' 'Isolated brachycephaly' SubClassOf 'Isolated craniosynostosis' 'Isolated brachycephaly' SubClassOf 'Rare genetic neurological disorder' 'Isolated brachycephaly' SubClassOf 'Craniostenosis associated with a strabismus' 'Isolated brachycephaly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 http://www.orpha.net/ORDO/Orphanet_35098 Isolated plagiocephaly 'Isolated plagiocephaly' SubClassOf 'Isolated craniosynostosis' 'Isolated plagiocephaly' SubClassOf 'Craniostenosis associated with a strabismus' 'Isolated plagiocephaly' SubClassOf 'Isolated craniosynostosis' 'Isolated plagiocephaly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Isolated plagiocephaly' SubClassOf 'Craniostenosis associated with a strabismus' 'Isolated plagiocephaly' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_98603 Secretory apparatus of the lacrimal system anomaly 'Secretory apparatus of the lacrimal system anomaly' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Secretory apparatus of the lacrimal system anomaly' SubClassOf 'lacrimal apparatus disease' http://www.orpha.net/ORDO/Orphanet_98605 Excretory apparatus of the lacrimal system anomaly 'Excretory apparatus of the lacrimal system anomaly' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Excretory apparatus of the lacrimal system anomaly' SubClassOf 'lacrimal apparatus disease' http://www.orpha.net/ORDO/Orphanet_99936 Autosomal dominant Charcot-Marie-Tooth disease type 2B 'Autosomal dominant Charcot-Marie-Tooth disease type 2B' SubClassOf 'Autosomal dominant Charcot-Marie-Tooth disease type 2' 'Autosomal dominant Charcot-Marie-Tooth disease type 2B' SubClassOf 'Autosomal dominant Charcot-Marie-Tooth disease type 2' http://www.orpha.net/ORDO/Orphanet_98604 Congenital alacrima 'Congenital alacrima' SubClassOf 'Secretory apparatus of the lacrimal system anomaly' 'Congenital alacrima' SubClassOf 'Secretory apparatus of the lacrimal system anomaly' http://purl.obolibrary.org/obo/CHEBI_50855 antiatherogenic agent 'antiatherogenic agent' SubClassOf 'inheres_in' some 'chemical entity' http://www.orpha.net/ORDO/Orphanet_99938 Autosomal dominant Charcot-Marie-Tooth disease type 2D 'Autosomal dominant Charcot-Marie-Tooth disease type 2D' SubClassOf 'Autosomal dominant Charcot-Marie-Tooth disease type 2' 'Autosomal dominant Charcot-Marie-Tooth disease type 2D' SubClassOf 'Autosomal dominant Charcot-Marie-Tooth disease type 2' http://www.orpha.net/ORDO/Orphanet_98606 Syndromic orbital border hypoplasia 'Syndromic orbital border hypoplasia' SubClassOf 'Excretory apparatus of the lacrimal system anomaly' 'Syndromic orbital border hypoplasia' SubClassOf 'Excretory apparatus of the lacrimal system anomaly' http://www.orpha.net/ORDO/Orphanet_99937 Autosomal dominant Charcot-Marie-Tooth disease type 2C 'Autosomal dominant Charcot-Marie-Tooth disease type 2C' SubClassOf 'Autosomal dominant Charcot-Marie-Tooth disease type 2' 'Autosomal dominant Charcot-Marie-Tooth disease type 2C' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002316 'Autosomal dominant Charcot-Marie-Tooth disease type 2C' SubClassOf 'Autosomal dominant Charcot-Marie-Tooth disease type 2' http://www.orpha.net/ORDO/Orphanet_98609 EEC syndrome and related syndrome 'EEC syndrome and related syndrome' SubClassOf 'Anomaly of the secretory and excretory apparatus of the lacrimal system' 'EEC syndrome and related syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'EEC syndrome and related syndrome' SubClassOf 'Anomaly of the secretory and excretory apparatus of the lacrimal system' 'EEC syndrome and related syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'EEC syndrome and related syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 http://www.orpha.net/ORDO/Orphanet_98608 Anomaly of the secretory and excretory apparatus of the lacrimal system 'Anomaly of the secretory and excretory apparatus of the lacrimal system' SubClassOf 'lacrimal apparatus disease' 'Anomaly of the secretory and excretory apparatus of the lacrimal system' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://www.orpha.net/ORDO/Orphanet_99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E 'Autosomal dominant Charcot-Marie-Tooth disease type 2E' SubClassOf 'Autosomal dominant Charcot-Marie-Tooth disease type 2' 'Autosomal dominant Charcot-Marie-Tooth disease type 2E' SubClassOf 'Autosomal dominant Charcot-Marie-Tooth disease type 2' http://www.orpha.net/ORDO/Orphanet_99941 Autosomal dominant Charcot-Marie-Tooth disease type 2G 'Autosomal dominant Charcot-Marie-Tooth disease type 2G' SubClassOf 'Autosomal dominant Charcot-Marie-Tooth disease type 2' 'Autosomal dominant Charcot-Marie-Tooth disease type 2G' SubClassOf 'Autosomal dominant Charcot-Marie-Tooth disease type 2' http://www.orpha.net/ORDO/Orphanet_99940 Autosomal dominant Charcot-Marie-Tooth disease type 2F 'Autosomal dominant Charcot-Marie-Tooth disease type 2F' SubClassOf 'Autosomal dominant Charcot-Marie-Tooth disease type 2' 'Autosomal dominant Charcot-Marie-Tooth disease type 2F' SubClassOf 'Autosomal dominant Charcot-Marie-Tooth disease type 2' http://www.orpha.net/ORDO/Orphanet_139406 Encephalopathy due to prosaposin deficiency 'Encephalopathy due to prosaposin deficiency' SubClassOf 'Neurometabolic disease' 'Encephalopathy due to prosaposin deficiency' SubClassOf 'Sphingolipidosis' 'Encephalopathy due to prosaposin deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018299 'Encephalopathy due to prosaposin deficiency' SubClassOf 'Neurometabolic disease' http://www.orpha.net/ORDO/Orphanet_98612 Conjunctival hemangioma or hemolymphangioma 'Conjunctival hemangioma or hemolymphangioma' SubClassOf 'Conjunctival vascular anomaly' 'Conjunctival hemangioma or hemolymphangioma' SubClassOf 'Conjunctival vascular anomaly' http://www.orpha.net/ORDO/Orphanet_99943 Autosomal dominant Charcot-Marie-Tooth disease type 2J 'Autosomal dominant Charcot-Marie-Tooth disease type 2J' SubClassOf 'Autosomal dominant Charcot-Marie-Tooth disease type 2' 'Autosomal dominant Charcot-Marie-Tooth disease type 2J' SubClassOf 'Autosomal dominant Charcot-Marie-Tooth disease type 2' 'Autosomal dominant Charcot-Marie-Tooth disease type 2J' SubClassOf 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type D' http://www.orpha.net/ORDO/Orphanet_98611 Conjunctival vascular anomaly 'Conjunctival vascular anomaly' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Conjunctival vascular anomaly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001174 http://www.orpha.net/ORDO/Orphanet_99942 Autosomal dominant Charcot-Marie-Tooth disease type 2I 'Autosomal dominant Charcot-Marie-Tooth disease type 2I' SubClassOf 'Autosomal dominant Charcot-Marie-Tooth disease type 2' 'Autosomal dominant Charcot-Marie-Tooth disease type 2I' SubClassOf 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type D' 'Autosomal dominant Charcot-Marie-Tooth disease type 2I' SubClassOf 'Autosomal dominant Charcot-Marie-Tooth disease type 2' http://www.orpha.net/ORDO/Orphanet_60025 Pulmonary alveolar microlithiasis 'Pulmonary alveolar microlithiasis' SubClassOf 'lung disease' 'Pulmonary alveolar microlithiasis' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://www.orpha.net/ORDO/Orphanet_35093 Isolated scaphocephaly 'Isolated scaphocephaly' SubClassOf 'Isolated craniosynostosis' 'Isolated scaphocephaly' SubClassOf 'Craniostenosis associated with a strabismus' 'Isolated scaphocephaly' SubClassOf 'Isolated craniosynostosis' 'Isolated scaphocephaly' SubClassOf 'Craniostenosis associated with a strabismus' 'Isolated scaphocephaly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Isolated scaphocephaly' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_3201 Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence 'Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence' SubClassOf 'Orofacial clefting syndrome' 'Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence' SubClassOf 'Orofacial clefting syndrome' 'Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 http://www.orpha.net/ORDO/Orphanet_3208 Isolated succinate-CoQ reductase deficiency 'Isolated succinate-CoQ reductase deficiency' SubClassOf 'Isolated oxidative phosphorylation complex disorder' 'Isolated succinate-CoQ reductase deficiency' SubClassOf 'Mitochondrial myopathy' 'Isolated succinate-CoQ reductase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000066 'Isolated succinate-CoQ reductase deficiency' SubClassOf 'Isolated oxidative phosphorylation complex disorder' 'Isolated succinate-CoQ reductase deficiency' SubClassOf 'Mitochondrial myopathy' http://www.orpha.net/ORDO/Orphanet_3207 White matter hypoplasia - corpus callosum agenesis - intellectual disability 'White matter hypoplasia - corpus callosum agenesis - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016055 'White matter hypoplasia - corpus callosum agenesis - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'White matter hypoplasia - corpus callosum agenesis - intellectual disability' SubClassOf 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' http://purl.obolibrary.org/obo/CHEBI_10033 warfarin 'warfarin' SubClassOf 'has_role' some 'drug role' 'warfarin' SubClassOf 'has_role' some 'anticoagulant' http://www.orpha.net/ORDO/Orphanet_3206 Stüve-Wiedemann syndrome 'Stüve-Wiedemann syndrome' SubClassOf 'Bent bone dysplasia' 'Stüve-Wiedemann syndrome' SubClassOf 'Bent bone dysplasia' http://www.orpha.net/ORDO/Orphanet_3205 Sturge-Weber syndrome 'Sturge-Weber syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Sturge-Weber syndrome' SubClassOf 'Syndrome or malformation associated with head and neck malformations' 'Sturge-Weber syndrome' SubClassOf 'Cerebral diseases of vascular origin with epilepsy' 'Sturge-Weber syndrome' SubClassOf 'Genetic vascular anomaly' 'Sturge-Weber syndrome' SubClassOf 'Rare disease with glaucoma as a major feature' 'Sturge-Weber syndrome' SubClassOf 'Neurocutaneous syndrome with epilepsy' 'Sturge-Weber syndrome' SubClassOf 'Syndrome or malformation associated with head and neck malformations' 'Sturge-Weber syndrome' SubClassOf 'disease has feature' some 'Conjunctival hemangioma or hemolymphangioma' 'Sturge-Weber syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Sturge-Weber syndrome' SubClassOf 'Cerebral diseases of vascular origin with epilepsy' 'Sturge-Weber syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 'Sturge-Weber syndrome' SubClassOf 'brain neoplasm' 'Sturge-Weber syndrome' SubClassOf 'Genetic neurovascular malformation' 'Sturge-Weber syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018719 'Sturge-Weber syndrome' SubClassOf 'disease has feature' some 'Palpebral tumor with a vascular malformation' 'Sturge-Weber syndrome' SubClassOf 'Rare disease with glaucoma as a major feature' 'Sturge-Weber syndrome' SubClassOf 'Neurocutaneous syndrome with epilepsy' http://www.orpha.net/ORDO/Orphanet_3204 Stormorken-Sjaastad-Langslet syndrome 'Stormorken-Sjaastad-Langslet syndrome' SubClassOf 'Rare hemorrhagic disorder due to a constitutional thrombocytopenia' 'Stormorken-Sjaastad-Langslet syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018795 http://www.orpha.net/ORDO/Orphanet_3203 Overhydrated hereditary stomatocytosis 'Overhydrated hereditary stomatocytosis' SubClassOf 'Hereditary stomatocytosis' 'Overhydrated hereditary stomatocytosis' SubClassOf 'Hereditary stomatocytosis' http://www.orpha.net/ORDO/Orphanet_3202 Dehydrated hereditary stomatocytosis 'Dehydrated hereditary stomatocytosis' SubClassOf 'Hereditary stomatocytosis' 'Dehydrated hereditary stomatocytosis' SubClassOf 'Hereditary stomatocytosis' http://purl.obolibrary.org/obo/CHEBI_36659 3-(4-hydroxyphenyl)lactate '3-(4-hydroxyphenyl)lactate' SubClassOf 'chemical entity' '3-(4-hydroxyphenyl)lactate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/UBERON_0006595 presumptive endoderm 'presumptive endoderm' SubClassOf 'animal component' 'presumptive endoderm' SubClassOf 'part_of' some 'embryo' 'presumptive endoderm' SubClassOf http://purl.obolibrary.org/obo/UBERON_0006598 http://purl.obolibrary.org/obo/CHEBI_62946 ammonium sulfate 'ammonium sulfate' SubClassOf 'has_role' some 'fertilizer' http://purl.obolibrary.org/obo/UBERON_0006596 presumptive blood 'presumptive blood' SubClassOf 'part_of' some 'embryo' 'presumptive blood' SubClassOf http://purl.obolibrary.org/obo/UBERON_0006598 http://purl.obolibrary.org/obo/UBERON_0006599 presumptive hypochord 'presumptive hypochord' SubClassOf http://purl.obolibrary.org/obo/UBERON_0006598 'presumptive hypochord' SubClassOf 'part_of' some 'embryo' http://purl.obolibrary.org/obo/CHEBI_23359 colchicine 'colchicine' SubClassOf 'has_role' some 'drug role' http://purl.obolibrary.org/obo/UBERON_0006597 quadrate 'quadrate' SubClassOf http://purl.obolibrary.org/obo/UBERON_0011597 'quadrate' SubClassOf http://purl.obolibrary.org/obo/UBERON_0002513 http://www.orpha.net/ORDO/Orphanet_284232 Autosomal dominant Charcot-Marie-Tooth disease type 2O 'Autosomal dominant Charcot-Marie-Tooth disease type 2O' SubClassOf 'Autosomal dominant Charcot-Marie-Tooth disease type 2' 'Autosomal dominant Charcot-Marie-Tooth disease type 2O' SubClassOf 'Autosomal dominant Charcot-Marie-Tooth disease type 2' http://www.orpha.net/ORDO/Orphanet_3210 Summitt syndrome 'Summitt syndrome' SubClassOf 'Syndromic craniosynostosis' 'Summitt syndrome' SubClassOf 'Syndromic craniosynostosis' http://www.orpha.net/ORDO/Orphanet_3219 Fountain syndrome 'Fountain syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Fountain syndrome' SubClassOf 'Syndromic genetic deafness' 'Fountain syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Fountain syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Fountain syndrome' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_3218 Deafness - epiphyseal dysplasia - short stature 'Deafness - epiphyseal dysplasia - short stature' SubClassOf 'Syndromic genetic deafness' 'Deafness - epiphyseal dysplasia - short stature' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_3217 Deafness - small bowel diverticulosis - neuropathy 'Deafness - small bowel diverticulosis - neuropathy' SubClassOf 'Syndromic genetic deafness' 'Deafness - small bowel diverticulosis - neuropathy' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_3214 Deaf blind hypopigmentation syndrome, Yemenite type 'Deaf blind hypopigmentation syndrome, Yemenite type' SubClassOf 'Genetic hypopigmentation of the skin' 'Deaf blind hypopigmentation syndrome, Yemenite type' SubClassOf 'Syndromic genetic deafness' 'Deaf blind hypopigmentation syndrome, Yemenite type' SubClassOf 'Genetic hypopigmentation of the skin' 'Deaf blind hypopigmentation syndrome, Yemenite type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 'Deaf blind hypopigmentation syndrome, Yemenite type' SubClassOf 'Syndromic genetic deafness' http://purl.obolibrary.org/obo/CLO_0012496 ND03432 'ND03432' SubClassOf 'cultured cell' 'ND03432' SubClassOf 'has_quality' some 'female' 'ND03432' SubClassOf 'bearer_of' some 'Parkinson's disease' 'ND03432' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://www.orpha.net/ORDO/Orphanet_96055 Tetrasomy 21 'Tetrasomy 21' SubClassOf 'Partial autosomal trisomy/tetrasomy' 'Tetrasomy 21' SubClassOf http://purl.obolibrary.org/obo/MONDO_0030502 'Tetrasomy 21' SubClassOf 'Partial autosomal trisomy/tetrasomy' http://www.orpha.net/ORDO/Orphanet_96059 Mosaic trisomy 4 'Mosaic trisomy 4' SubClassOf 'Total autosomal trisomy' 'Mosaic trisomy 4' SubClassOf 'Total autosomal trisomy' http://www.orpha.net/ORDO/Orphanet_308655 Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form 'Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form' SubClassOf 'Glycogen storage disease due to glycogen branching enzyme deficiency' 'Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form' SubClassOf 'Glycogen storage disease due to glycogen branching enzyme deficiency' http://purl.obolibrary.org/obo/CHEBI_23366 compatible osmolytes role 'compatible osmolytes role' SubClassOf 'inheres_in' some 'chemical entity' http://www.orpha.net/ORDO/Orphanet_284247 Familial retinal arterial macroaneurysm 'Familial retinal arterial macroaneurysm' SubClassOf 'Genetic vitreous-retinal disease' 'Familial retinal arterial macroaneurysm' SubClassOf 'Rare syndrome with cardiac malformations' 'Familial retinal arterial macroaneurysm' SubClassOf 'Genetic vitreous-retinal disease' 'Familial retinal arterial macroaneurysm' SubClassOf 'Rare syndrome with cardiac malformations' 'Familial retinal arterial macroaneurysm' SubClassOf 'Genetic central nervous system and retinal vascular disease' http://www.orpha.net/ORDO/Orphanet_261584 Familial adenomatous polyposis due to 5q22.2 microdeletion 'Familial adenomatous polyposis due to 5q22.2 microdeletion' SubClassOf 'Familial adenomatous polyposis' 'Familial adenomatous polyposis due to 5q22.2 microdeletion' SubClassOf 'Partial deletion of the long arm of chromosome 5' 'Familial adenomatous polyposis due to 5q22.2 microdeletion' SubClassOf 'Familial adenomatous polyposis' 'Familial adenomatous polyposis due to 5q22.2 microdeletion' SubClassOf 'Partial deletion of the long arm of chromosome 5' http://purl.obolibrary.org/obo/BTO_0001630 obsolete_right ventricle 'obsolete_right ventricle' SubClassOf 'obsolete class' 'obsolete_right ventricle' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/CLO_0013793 GM17191 'GM17191' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17191' SubClassOf 'has_quality' some 'female' 'GM17191' SubClassOf 'cultured cell' http://www.orpha.net/ORDO/Orphanet_3222 Phosphoribosylpyrophosphate synthetase superactivity 'Phosphoribosylpyrophosphate synthetase superactivity' SubClassOf 'Syndromic neurometabolic disease with X-linked intellectual disability' 'Phosphoribosylpyrophosphate synthetase superactivity' SubClassOf 'Disorder of purine metabolism' 'Phosphoribosylpyrophosphate synthetase superactivity' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'Phosphoribosylpyrophosphate synthetase superactivity' SubClassOf 'Syndromic neurometabolic disease with X-linked intellectual disability' 'Phosphoribosylpyrophosphate synthetase superactivity' SubClassOf 'Disorder of purine metabolism' 'Phosphoribosylpyrophosphate synthetase superactivity' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044976 'Phosphoribosylpyrophosphate synthetase superactivity' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' http://www.orpha.net/ORDO/Orphanet_3221 Generalized resistance to thyroid hormone 'Generalized resistance to thyroid hormone' SubClassOf 'Hyperthyroidism' 'Generalized resistance to thyroid hormone' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Generalized resistance to thyroid hormone' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001328 http://purl.obolibrary.org/obo/CLO_0013790 GM17189 'GM17189' SubClassOf 'cultured cell' 'GM17189' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17189' SubClassOf 'has_quality' some 'female' http://www.orpha.net/ORDO/Orphanet_3220 Deafness - enamel hypoplasia - nail defects 'Deafness - enamel hypoplasia - nail defects' SubClassOf 'Ectodermal dysplasia syndrome' 'Deafness - enamel hypoplasia - nail defects' SubClassOf 'Syndromic genetic deafness' 'Deafness - enamel hypoplasia - nail defects' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Deafness - enamel hypoplasia - nail defects' SubClassOf 'Ectodermal dysplasia syndrome' 'Deafness - enamel hypoplasia - nail defects' SubClassOf 'Syndromic genetic deafness' 'Deafness - enamel hypoplasia - nail defects' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' http://purl.obolibrary.org/obo/CLO_0013798 GM17194 'GM17194' SubClassOf 'has_quality' some 'female' 'GM17194' SubClassOf 'cultured cell' 'GM17194' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/CLO_0013797 GM17195 'GM17195' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17195' SubClassOf 'cultured cell' 'GM17195' SubClassOf 'has_quality' some 'female' http://purl.obolibrary.org/obo/CLO_0013796 GM17192 'GM17192' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17192' SubClassOf 'has_quality' some 'female' 'GM17192' SubClassOf 'cultured cell' http://www.orpha.net/ORDO/Orphanet_3226 Deafness - lymphedema - leukemia 'Deafness - lymphedema - leukemia' SubClassOf 'Syndromic lymphedema' 'Deafness - lymphedema - leukemia' SubClassOf 'Syndromic genetic deafness' 'Deafness - lymphedema - leukemia' SubClassOf 'skin neoplasm' 'Deafness - lymphedema - leukemia' SubClassOf 'Syndromic lymphedema' 'Deafness - lymphedema - leukemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0009332 'Deafness - lymphedema - leukemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0042982 'Deafness - lymphedema - leukemia' SubClassOf 'Conjunctival tumor' 'Deafness - lymphedema - leukemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018722 'Deafness - lymphedema - leukemia' SubClassOf 'Syndromic genetic deafness' 'Deafness - lymphedema - leukemia' SubClassOf 'Genetic tumor of hematopoietic and lymphoid tissues' 'Deafness - lymphedema - leukemia' SubClassOf 'Milroy disease' 'Deafness - lymphedema - leukemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018729 'Deafness - lymphedema - leukemia' SubClassOf 'Genetic eye tumor' http://purl.obolibrary.org/obo/CLO_0013795 GM17193 'GM17193' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17193' SubClassOf 'has_quality' some 'female' 'GM17193' SubClassOf 'cultured cell' http://www.orpha.net/ORDO/Orphanet_3225 Hearing loss - familial salivary gland insensitivity to aldosterone 'Hearing loss - familial salivary gland insensitivity to aldosterone' SubClassOf 'Syndromic genetic deafness' 'Hearing loss - familial salivary gland insensitivity to aldosterone' SubClassOf 'Syndromic genetic deafness' http://purl.obolibrary.org/obo/CLO_0013794 GM17190 'GM17190' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17190' SubClassOf 'has_quality' some 'female' 'GM17190' SubClassOf 'cultured cell' http://www.orpha.net/ORDO/Orphanet_3224 Deafness - genital anomalies - metacarpal and metatarsal synostosis 'Deafness - genital anomalies - metacarpal and metatarsal synostosis' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Deafness - genital anomalies - metacarpal and metatarsal synostosis' SubClassOf 'Syndromic genetic deafness' 'Deafness - genital anomalies - metacarpal and metatarsal synostosis' SubClassOf 'Syndromic urogenital tract malformation' 'Deafness - genital anomalies - metacarpal and metatarsal synostosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Deafness - genital anomalies - metacarpal and metatarsal synostosis' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Deafness - genital anomalies - metacarpal and metatarsal synostosis' SubClassOf 'Syndromic genetic deafness' 'Deafness - genital anomalies - metacarpal and metatarsal synostosis' SubClassOf 'Syndromic urogenital tract malformation' http://purl.obolibrary.org/obo/UBERON_0005284 obsolete_brain vasculatures 'obsolete_brain vasculatures' SubClassOf 'obsolete class' 'obsolete_brain vasculatures' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_96068 Mosaic trisomy 22 'Mosaic trisomy 22' SubClassOf 'Total autosomal trisomy' 'Mosaic trisomy 22' SubClassOf 'Total autosomal trisomy' http://www.orpha.net/ORDO/Orphanet_96069 Distal trisomy 1p36 'Distal trisomy 1p36' SubClassOf 'Partial duplication of the short arm of chromosome 1' 'Distal trisomy 1p36' SubClassOf 'Partial duplication of the short arm of chromosome 1' http://purl.obolibrary.org/obo/UBERON_0005281 ventricular system 'ventricular system' SubClassOf 'anatomical system' http://www.orpha.net/ORDO/Orphanet_308621 Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form 'Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form' SubClassOf 'Glycogen storage disease due to glycogen branching enzyme deficiency' 'Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form' SubClassOf 'Glycogen storage disease due to glycogen branching enzyme deficiency' http://www.orpha.net/ORDO/Orphanet_96060 Mosaic trisomy 5 'Mosaic trisomy 5' SubClassOf 'Total autosomal trisomy' 'Mosaic trisomy 5' SubClassOf 'Total autosomal trisomy' http://www.orpha.net/ORDO/Orphanet_261572 Blepharophimosis - epicanthus inversus - ptosis due to a point mutation 'Blepharophimosis - epicanthus inversus - ptosis due to a point mutation' SubClassOf 'Blepharophimosis - epicanthus inversus - ptosis' 'Blepharophimosis - epicanthus inversus - ptosis due to a point mutation' SubClassOf 'Blepharophimosis - epicanthus inversus - ptosis' http://www.orpha.net/ORDO/Orphanet_96061 Mosaic trisomy 8 'Mosaic trisomy 8' SubClassOf 'Total autosomal trisomy' 'Mosaic trisomy 8' SubClassOf 'Total autosomal trisomy' http://purl.obolibrary.org/obo/BTO_0000332 culture condition:dark-grown cell 'culture condition:dark-grown cell' EquivalentTo 'etiolation' http://www.orpha.net/ORDO/Orphanet_247262 Hyperphosphatasia-intellectual disability syndrome 'Hyperphosphatasia-intellectual disability syndrome' SubClassOf 'Congenital disorder of glycosylation-related bone disorder' 'Hyperphosphatasia-intellectual disability syndrome' SubClassOf 'Syndrome with brachydactyly' 'Hyperphosphatasia-intellectual disability syndrome' SubClassOf 'Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' 'Hyperphosphatasia-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Hyperphosphatasia-intellectual disability syndrome' SubClassOf 'Congenital disorder of glycosylation-related bone disorder' 'Hyperphosphatasia-intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Hyperphosphatasia-intellectual disability syndrome' SubClassOf 'Syndrome with brachydactyly' 'Hyperphosphatasia-intellectual disability syndrome' SubClassOf 'Rare syndromic dyslipidemia' 'Hyperphosphatasia-intellectual disability syndrome' SubClassOf 'Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' http://www.orpha.net/ORDO/Orphanet_96063 Mosaic trisomy 10 'Mosaic trisomy 10' SubClassOf 'Total autosomal trisomy' 'Mosaic trisomy 10' SubClassOf 'Total autosomal trisomy' http://www.orpha.net/ORDO/Orphanet_3233 Cochleosaccular degeneration - cataract 'Cochleosaccular degeneration - cataract' SubClassOf 'Syndromic cataract' 'Cochleosaccular degeneration - cataract' SubClassOf 'Syndromic genetic deafness' 'Cochleosaccular degeneration - cataract' SubClassOf 'Syndromic cataract' 'Cochleosaccular degeneration - cataract' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_3232 Deafness - ear malformation - facial palsy 'Deafness - ear malformation - facial palsy' SubClassOf 'Syndromic genetic deafness' 'Deafness - ear malformation - facial palsy' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_3231 Deafness-onychodystrophy syndrome 'Deafness-onychodystrophy syndrome' SubClassOf 'Syndromic genetic deafness' 'Deafness-onychodystrophy syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Deafness-onychodystrophy syndrome' SubClassOf 'Syndromic nail anomaly' 'Deafness-onychodystrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Deafness-onychodystrophy syndrome' SubClassOf 'Syndromic genetic deafness' 'Deafness-onychodystrophy syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Deafness-onychodystrophy syndrome' SubClassOf 'Syndromic nail anomaly' http://www.orpha.net/ORDO/Orphanet_3230 Deafness - oligodontia 'Deafness - oligodontia' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Deafness - oligodontia' SubClassOf 'Syndromic genetic deafness' 'Deafness - oligodontia' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Deafness - oligodontia' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_262887 Partial duplication of the long arm of chromosome 7 'Partial duplication of the long arm of chromosome 7' SubClassOf 'Partial duplication of chromosome 7' 'Partial duplication of the long arm of chromosome 7' SubClassOf 'Partial duplication of chromosome 7' http://www.orpha.net/ORDO/Orphanet_3239 Deafness - vitiligo - achalasia 'Deafness - vitiligo - achalasia' SubClassOf 'Syndromic genetic deafness' 'Deafness - vitiligo - achalasia' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_3238 Cardiospondylocarpofacial syndrome 'Cardiospondylocarpofacial syndrome' SubClassOf 'Syndromic genetic deafness' 'Cardiospondylocarpofacial syndrome' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_3237 Multiple synostoses syndrome 'Multiple synostoses syndrome' SubClassOf 'Syndromic genetic deafness' 'Multiple synostoses syndrome' SubClassOf 'Syndrome with synostosis or other joint formation defect' 'Multiple synostoses syndrome' SubClassOf 'Syndromic genetic deafness' 'Multiple synostoses syndrome' SubClassOf 'Syndrome with synostosis or other joint formation defect' http://www.orpha.net/ORDO/Orphanet_3236 Conductive deafness - ptosis - skeletal anomalies 'Conductive deafness - ptosis - skeletal anomalies' SubClassOf 'Ectodermal dysplasia syndrome' 'Conductive deafness - ptosis - skeletal anomalies' SubClassOf 'Ectodermal dysplasia syndrome' http://www.orpha.net/ORDO/Orphanet_3235 Progressive deafness with stapes fixation 'Progressive deafness with stapes fixation' SubClassOf 'Syndromic genetic deafness' 'Progressive deafness with stapes fixation' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_96076 Beckwith-Wiedemann syndrome due to 11p15 microduplication 'Beckwith-Wiedemann syndrome due to 11p15 microduplication' SubClassOf 'Beckwith-Wiedemann syndrome' 'Beckwith-Wiedemann syndrome due to 11p15 microduplication' SubClassOf 'Partial duplication of the short arm of chromosome 11' 'Beckwith-Wiedemann syndrome due to 11p15 microduplication' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019717 'Beckwith-Wiedemann syndrome due to 11p15 microduplication' SubClassOf 'Beckwith-Wiedemann syndrome' 'Beckwith-Wiedemann syndrome due to 11p15 microduplication' SubClassOf 'Partial duplication of the short arm of chromosome 11' http://www.orpha.net/ORDO/Orphanet_96078 16p13.3 microduplication syndrome '16p13.3 microduplication syndrome' SubClassOf 'Partial duplication of the short arm of chromosome 16' '16p13.3 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000762 '16p13.3 microduplication syndrome' SubClassOf 'Partial duplication of the short arm of chromosome 16' http://www.orpha.net/ORDO/Orphanet_262896 Partial duplication of the long arm of chromosome 8 'Partial duplication of the long arm of chromosome 8' SubClassOf 'Partial duplication of chromosome 8' 'Partial duplication of the long arm of chromosome 8' SubClassOf 'Partial duplication of chromosome 8' http://www.orpha.net/ORDO/Orphanet_96070 Distal trisomy 2p 'Distal trisomy 2p' SubClassOf 'Partial duplication of the short arm of chromosome 2' 'Distal trisomy 2p' SubClassOf 'Partial duplication of the short arm of chromosome 2' 'Distal trisomy 2p' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020226 http://www.orpha.net/ORDO/Orphanet_308638 Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form 'Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form' SubClassOf 'Glycogen storage disease due to glycogen branching enzyme deficiency' 'Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form' SubClassOf 'Glycogen storage disease due to glycogen branching enzyme deficiency' http://www.orpha.net/ORDO/Orphanet_96071 Distal trisomy 3p 'Distal trisomy 3p' SubClassOf 'Partial duplication of the short arm of chromosome 3' 'Distal trisomy 3p' SubClassOf 'Partial duplication of the short arm of chromosome 3' http://www.orpha.net/ORDO/Orphanet_96072 4p16.3 microduplication syndrome '4p16.3 microduplication syndrome' SubClassOf 'Partial duplication of the short arm of chromosome 4' '4p16.3 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019717 '4p16.3 microduplication syndrome' SubClassOf 'Partial duplication of the short arm of chromosome 4' http://www.orpha.net/ORDO/Orphanet_96074 Distal trisomy 7p 'Distal trisomy 7p' SubClassOf 'Partial duplication of the short arm of chromosome 7' 'Distal trisomy 7p' SubClassOf 'Partial duplication of the short arm of chromosome 7' http://www.orpha.net/ORDO/Orphanet_84096 Unknown leukodystrophy 'Unknown leukodystrophy' SubClassOf 'Leukodystrophy' 'Unknown leukodystrophy' SubClassOf 'Leukodystrophy' http://www.orpha.net/ORDO/Orphanet_98658 Color-vision disease 'Color-vision disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001941 http://www.orpha.net/ORDO/Orphanet_99989 Intermediate DEND syndrome 'Intermediate DEND syndrome' SubClassOf 'DEND syndrome' 'Intermediate DEND syndrome' SubClassOf 'DEND syndrome' http://www.orpha.net/ORDO/Orphanet_98657 Genetic vitreous-retinal disease 'Genetic vitreous-retinal disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 'Genetic vitreous-retinal disease' SubClassOf 'retinopathy' 'Genetic vitreous-retinal disease' SubClassOf 'vitreous body disease' 'Genetic vitreous-retinal disease' SubClassOf 'has_disease_location' some 'eye' 'Genetic vitreous-retinal disease' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_84090 Fibronectin glomerulopathy 'Fibronectin glomerulopathy' SubClassOf 'Primary glomerular disease' 'Fibronectin glomerulopathy' SubClassOf 'Primary glomerular disease' http://www.orpha.net/ORDO/Orphanet_84093 Hereditary thermosensitive neuropathy 'Hereditary thermosensitive neuropathy' SubClassOf 'Autosomal dominant hereditary demyelinating motor and sensory neuropathy' 'Hereditary thermosensitive neuropathy' SubClassOf 'Autosomal dominant hereditary demyelinating motor and sensory neuropathy' http://www.orpha.net/ORDO/Orphanet_98661 Syndromic retinitis pigmentosa 'Syndromic retinitis pigmentosa' SubClassOf 'Retinal dystrophy' 'Syndromic retinitis pigmentosa' SubClassOf 'Retinitis pigmentosa' 'Syndromic retinitis pigmentosa' EquivalentTo 'Retinitis pigmentosa' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021127) 'Syndromic retinitis pigmentosa' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 http://www.orpha.net/ORDO/Orphanet_98662 Unclassified familial retinal dystrophy 'Unclassified familial retinal dystrophy' SubClassOf 'Retinal dystrophy' 'Unclassified familial retinal dystrophy' SubClassOf 'Retinal dystrophy' http://purl.obolibrary.org/obo/CL_0002032 hematopoietic oligopotent progenitor cell 'hematopoietic oligopotent progenitor cell' SubClassOf 'located_in' some 'hematopoietic system' http://www.orpha.net/ORDO/Orphanet_98665 Colobomatous and areolar dystrophy 'Colobomatous and areolar dystrophy' SubClassOf 'Genetic macular dystrophy' 'Colobomatous and areolar dystrophy' SubClassOf 'Genetic macular dystrophy' http://www.orpha.net/ORDO/Orphanet_98664 Genetic macular dystrophy 'Genetic macular dystrophy' SubClassOf 'Retinal dystrophy' 'Genetic macular dystrophy' SubClassOf 'Retinal dystrophy' http://www.orpha.net/ORDO/Orphanet_98667 Disease predisposing to age-related macular degeneration 'Disease predisposing to age-related macular degeneration' SubClassOf 'Genetic vitreous-retinal disease' 'Disease predisposing to age-related macular degeneration' SubClassOf 'disease has feature' some 'age-related macular degeneration' 'Disease predisposing to age-related macular degeneration' SubClassOf 'Genetic vitreous-retinal disease' http://www.orpha.net/ORDO/Orphanet_98666 Unclassified primitive or secondary maculopathy 'Unclassified primitive or secondary maculopathy' SubClassOf 'Genetic macular dystrophy' 'Unclassified primitive or secondary maculopathy' SubClassOf 'Genetic macular dystrophy' http://purl.obolibrary.org/obo/CL_0002031 hematopoietic lineage restricted progenitor cell 'hematopoietic lineage restricted progenitor cell' SubClassOf 'located_in' some 'hematopoietic system' http://www.orpha.net/ORDO/Orphanet_308604 Glycogen storage disease due to acid maltase deficiency, adult onset 'Glycogen storage disease due to acid maltase deficiency, adult onset' SubClassOf 'Glycogen storage disease due to acid maltase deficiency' 'Glycogen storage disease due to acid maltase deficiency, adult onset' SubClassOf 'Glycogen storage disease due to acid maltase deficiency' http://www.orpha.net/ORDO/Orphanet_98669 Congenital vitreoretinal dysplasia 'Congenital vitreoretinal dysplasia' SubClassOf 'Vitreoretinopathy' 'Congenital vitreoretinal dysplasia' SubClassOf 'Vitreoretinopathy' http://www.orpha.net/ORDO/Orphanet_98668 Vitreoretinopathy 'Vitreoretinopathy' SubClassOf 'Genetic vitreous-retinal disease' 'Vitreoretinopathy' SubClassOf 'Genetic vitreous-retinal disease' http://www.orpha.net/ORDO/Orphanet_84081 Senior-Boichis syndrome 'Senior-Boichis syndrome' SubClassOf 'Genetic renal tubular disease' 'Senior-Boichis syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019744 http://www.orpha.net/ORDO/Orphanet_98672 Autosomal dominant optic atrophy 'Autosomal dominant optic atrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004884 'Autosomal dominant optic atrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043878 'Autosomal dominant optic atrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 'Autosomal dominant optic atrophy' SubClassOf 'Optic neuropathy' http://www.orpha.net/ORDO/Orphanet_97340 Hunter-McAlpine craniosynostosis 'Hunter-McAlpine craniosynostosis' SubClassOf 'Syndromic craniosynostosis' 'Hunter-McAlpine craniosynostosis' SubClassOf 'Syndromic craniosynostosis' http://www.orpha.net/ORDO/Orphanet_98671 Optic neuropathy 'Optic neuropathy' SubClassOf 'eye disease' 'Optic neuropathy' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://www.orpha.net/ORDO/Orphanet_98673 Autosomal dominant optic atrophy, classic type 'Autosomal dominant optic atrophy, classic type' SubClassOf 'Mitochondrial oxidative phosphorylation disorder with no known mechanism' 'Autosomal dominant optic atrophy, classic type' SubClassOf 'Autosomal dominant optic atrophy' 'Autosomal dominant optic atrophy, classic type' SubClassOf 'Mitochondrial oxidative phosphorylation disorder with no known mechanism' 'Autosomal dominant optic atrophy, classic type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Autosomal dominant optic atrophy, classic type' SubClassOf 'Autosomal dominant optic atrophy' http://www.orpha.net/ORDO/Orphanet_98676 Autosomal recessive isolated optic atrophy 'Autosomal recessive isolated optic atrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003608 'Autosomal recessive isolated optic atrophy' SubClassOf 'Optic neuropathy' 'Autosomal recessive isolated optic atrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004884 http://purl.obolibrary.org/obo/CHEBI_25982 phenylacetylglutamine 'phenylacetylglutamine' SubClassOf 'chemical entity' 'phenylacetylglutamine' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_98670 Vitreoretinal degeneration 'Vitreoretinal degeneration' SubClassOf 'Vitreoretinopathy' 'Vitreoretinal degeneration' SubClassOf 'Genetic neurodegenerative disease' 'Vitreoretinal degeneration' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001377 'Vitreoretinal degeneration' SubClassOf 'Vitreoretinopathy' http://www.orpha.net/ORDO/Orphanet_98683 Syndrome with a symptomatic strabismus 'Syndrome with a symptomatic strabismus' SubClassOf 'Rare strabismus and restriction syndrome' 'Syndrome with a symptomatic strabismus' SubClassOf 'Rare strabismus and restriction syndrome' http://www.orpha.net/ORDO/Orphanet_98682 Essential strabismus 'Essential strabismus' SubClassOf 'Rare strabismus and restriction syndrome' 'Essential strabismus' SubClassOf 'Rare strabismus and restriction syndrome' http://www.orpha.net/ORDO/Orphanet_98685 Oculomotor palsy 'Oculomotor palsy' SubClassOf 'Genetic neuro-ophthalmological disease' 'Oculomotor palsy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003546 'Oculomotor palsy' SubClassOf 'cranial nerve palsy' 'Oculomotor palsy' SubClassOf 'Genetic neuro-ophthalmological disease' http://www.orpha.net/ORDO/Orphanet_98684 Craniostenosis associated with a strabismus 'Craniostenosis associated with a strabismus' SubClassOf 'Syndrome with a symptomatic strabismus' 'Craniostenosis associated with a strabismus' SubClassOf 'Syndrome with a symptomatic strabismus' http://purl.obolibrary.org/obo/BTO_0001629 obsolete_left ventricle 'obsolete_left ventricle' SubClassOf 'obsolete class' 'obsolete_left ventricle' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_98687 Supranuclear oculomotor palsy 'Supranuclear oculomotor palsy' SubClassOf 'Oculomotor palsy' 'Supranuclear oculomotor palsy' SubClassOf 'Oculomotor palsy' http://www.orpha.net/ORDO/Orphanet_98686 Congenital trochlear nerve palsy 'Congenital trochlear nerve palsy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001146 http://www.orpha.net/ORDO/Orphanet_98689 Myopathy with eye involvement 'Myopathy with eye involvement' SubClassOf 'Genetic neuro-ophthalmological disease' 'Myopathy with eye involvement' SubClassOf 'Genetic neuro-ophthalmological disease' 'Myopathy with eye involvement' SubClassOf 'myopathy' http://www.orpha.net/ORDO/Orphanet_98688 Oculomotor apraxia or related oculomotor disease 'Oculomotor apraxia or related oculomotor disease' SubClassOf 'Genetic neuro-ophthalmological disease' 'Oculomotor apraxia or related oculomotor disease' SubClassOf 'Genetic neuro-ophthalmological disease' http://purl.obolibrary.org/obo/CHEBI_24621 hormone 'hormone' EquivalentTo 'has_role' some 'hormone role' http://www.orpha.net/ORDO/Orphanet_98681 Rare strabismus and restriction syndrome 'Rare strabismus and restriction syndrome' SubClassOf 'Genetic neuro-ophthalmological disease' 'Rare strabismus and restriction syndrome' SubClassOf 'Abnormal eye movements' http://www.orpha.net/ORDO/Orphanet_84064 Syndromic diarrhea 'Syndromic diarrhea' SubClassOf 'Genetic intractable diarrhea of infancy' 'Syndromic diarrhea' SubClassOf 'Genetic parenchymatous liver disease' 'Syndromic diarrhea' SubClassOf 'Genetic intractable diarrhea of infancy' 'Syndromic diarrhea' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018782 'Syndromic diarrhea' SubClassOf 'Genetic parenchymatous liver disease' 'Syndromic diarrhea' SubClassOf 'Immune dysregulation disease with immunodeficiency' http://purl.obolibrary.org/obo/CLO_0036460 GM06944 'GM06944' SubClassOf 'cultured cell' 'GM06944' SubClassOf 'derives_from' some ('fibroblast' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'GM06944' SubClassOf 'has_quality' some 'female' http://purl.obolibrary.org/obo/UBERON_0005253 head mesenchyme 'head mesenchyme' SubClassOf 'part_of' some 'head' http://www.orpha.net/ORDO/Orphanet_98694 Spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly 'Spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly' SubClassOf 'Nervous system anomaly with eye involvement' 'Spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly' SubClassOf 'Nervous system anomaly with eye involvement' http://www.orpha.net/ORDO/Orphanet_97362 Bilateral renal hypoplasia 'Bilateral renal hypoplasia' SubClassOf 'Renal hypoplasia' 'Bilateral renal hypoplasia' SubClassOf 'Renal hypoplasia' http://purl.obolibrary.org/obo/CHEBI_185922 5-fluorouridine '5-fluorouridine' SubClassOf 'has_role' some 'mutagen' http://www.orpha.net/ORDO/Orphanet_98693 Spinocerebellar ataxia with oculomotor anomaly 'Spinocerebellar ataxia with oculomotor anomaly' SubClassOf 'Nervous system anomaly with eye involvement' 'Spinocerebellar ataxia with oculomotor anomaly' SubClassOf 'Nervous system anomaly with eye involvement' http://www.orpha.net/ORDO/Orphanet_97363 Unilateral multicystic dysplastic kidney 'Unilateral multicystic dysplastic kidney' SubClassOf 'Multicystic dysplastic kidney' 'Unilateral multicystic dysplastic kidney' SubClassOf 'Multicystic dysplastic kidney' http://www.orpha.net/ORDO/Orphanet_98696 Genodermatosis with ocular features 'Genodermatosis with ocular features' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Genodermatosis with ocular features' SubClassOf 'eye disease' http://www.orpha.net/ORDO/Orphanet_97364 Bilateral multicystic dysplastic kidney 'Bilateral multicystic dysplastic kidney' SubClassOf 'Multicystic dysplastic kidney' 'Bilateral multicystic dysplastic kidney' SubClassOf 'Multicystic dysplastic kidney' http://www.orpha.net/ORDO/Orphanet_98695 Mitochondrial disease with eye involvement 'Mitochondrial disease with eye involvement' SubClassOf 'Metabolic disease associated with ocular features' 'Mitochondrial disease with eye involvement' SubClassOf 'Metabolic disease associated with ocular features' http://www.orpha.net/ORDO/Orphanet_98698 Ichthyosis associated with ocular features 'Ichthyosis associated with ocular features' SubClassOf 'Genetic keratinization disorder associated with ocular features' 'Ichthyosis associated with ocular features' SubClassOf 'Genetic keratinization disorder associated with ocular features' http://www.orpha.net/ORDO/Orphanet_98697 Genetic keratinization disorder associated with ocular features 'Genetic keratinization disorder associated with ocular features' SubClassOf 'Genodermatosis with ocular features' 'Genetic keratinization disorder associated with ocular features' SubClassOf 'Genodermatosis with ocular features' http://purl.obolibrary.org/obo/BTO_0001616 colorectal cancer cell line 'colorectal cancer cell line' EquivalentTo 'cultured cell' and ('bearer_of' some 'colorectal cancer') 'colorectal cancer cell line' SubClassOf 'derives from/develops from' some 'colorectal cancer cell' http://purl.obolibrary.org/obo/BTO_0001615 colorectal cancer cell 'colorectal cancer cell' SubClassOf 'bearer_of' some 'colorectal cancer' http://purl.obolibrary.org/obo/CHEBI_85533 trans-4-hydroxy-L-proline betaine 'trans-4-hydroxy-L-proline betaine' SubClassOf 'chemical entity' 'trans-4-hydroxy-L-proline betaine' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_98699 Syndromic ichthyosis associated with ocular features 'Syndromic ichthyosis associated with ocular features' SubClassOf 'Genetic keratinization disorder associated with ocular features' 'Syndromic ichthyosis associated with ocular features' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Syndromic ichthyosis associated with ocular features' EquivalentTo 'Ichthyosis associated with ocular features' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021127) 'Syndromic ichthyosis associated with ocular features' SubClassOf 'Ichthyosis associated with ocular features' http://www.orpha.net/ORDO/Orphanet_97369 Renal tubular dysgenesis of genetic origin 'Renal tubular dysgenesis of genetic origin' SubClassOf 'Genetic non-syndromic renal or urinary tract malformation' 'Renal tubular dysgenesis of genetic origin' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0017609 and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) 'Renal tubular dysgenesis of genetic origin' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017609 'Renal tubular dysgenesis of genetic origin' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003847 http://www.orpha.net/ORDO/Orphanet_98692 Nervous system anomaly with eye involvement 'Nervous system anomaly with eye involvement' SubClassOf 'Genetic neuro-ophthalmological disease' 'Nervous system anomaly with eye involvement' SubClassOf 'Genetic neuro-ophthalmological disease' http://www.orpha.net/ORDO/Orphanet_97360 Robinow syndrome 'Robinow syndrome' SubClassOf 'Genetic malformation syndrome with short stature' 'Robinow syndrome' SubClassOf 'Mesomelic and rhizo-mesomelic dysplasia' 'Robinow syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007 'Robinow syndrome' SubClassOf 'Genetic malformation syndrome with short stature' 'Robinow syndrome' SubClassOf 'Mesomelic and rhizo-mesomelic dysplasia' 'Robinow syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 http://purl.obolibrary.org/obo/UBERON_0005256 trunk mesenchyme 'trunk mesenchyme' SubClassOf 'part_of' some 'trunk' http://www.orpha.net/ORDO/Orphanet_98691 Abnormal eye movements 'Abnormal eye movements' SubClassOf 'Genetic neuro-ophthalmological disease' 'Abnormal eye movements' SubClassOf 'Genetic neuro-ophthalmological disease' http://www.orpha.net/ORDO/Orphanet_97361 Unilateral renal hypoplasia 'Unilateral renal hypoplasia' SubClassOf 'Renal hypoplasia' 'Unilateral renal hypoplasia' SubClassOf 'Renal hypoplasia' http://www.orpha.net/ORDO/Orphanet_261501 Atypical Norrie disease due to monosomy Xp11.3 'Atypical Norrie disease due to monosomy Xp11.3' SubClassOf 'Partial monosomy of the short arm of chromosome X' 'Atypical Norrie disease due to monosomy Xp11.3' SubClassOf 'Partial monosomy of the short arm of chromosome X' http://www.orpha.net/ORDO/Orphanet_262833 Partial duplication of the long arm of chromosome 1 'Partial duplication of the long arm of chromosome 1' SubClassOf 'Partial duplication of chromosome 1' 'Partial duplication of the long arm of chromosome 1' SubClassOf 'Partial duplication of chromosome 1' http://www.orpha.net/ORDO/Orphanet_320370 Autosomal recessive spastic paraplegia type 43 'Autosomal recessive spastic paraplegia type 43' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Autosomal recessive spastic paraplegia type 43' SubClassOf 'Autosomal recessive complex spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_320375 Autosomal recessive spastic paraplegia type 55 'Autosomal recessive spastic paraplegia type 55' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Autosomal recessive spastic paraplegia type 55' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Autosomal recessive spastic paraplegia type 55' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Autosomal recessive spastic paraplegia type 55' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Autosomal recessive spastic paraplegia type 55' SubClassOf 'Autosomal recessive complex spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_262842 Partial duplication of the long arm of chromosome 2 'Partial duplication of the long arm of chromosome 2' SubClassOf 'Partial duplication of chromosome 2' 'Partial duplication of the long arm of chromosome 2' SubClassOf 'Partial duplication of chromosome 2' http://purl.obolibrary.org/obo/PO_0006023 bundle sheath 'bundle sheath' SubClassOf 'vascular leaf' 'bundle sheath' SubClassOf 'vascular leaf' http://purl.obolibrary.org/obo/CHEBI_24606 homoarginine 'homoarginine' SubClassOf 'amino acid' 'homoarginine' SubClassOf 'amino acid' http://purl.obolibrary.org/obo/CHEBI_2948 azathioprine 'azathioprine' SubClassOf 'has_role' some 'antineoplastic agent' 'azathioprine' SubClassOf 'has_role' some 'antimetabolite role' http://www.orpha.net/ORDO/Orphanet_320360 Maternally-inherited spastic paraplegia 'Maternally-inherited spastic paraplegia' SubClassOf 'Complex hereditary spastic paraplegia' 'Maternally-inherited spastic paraplegia' SubClassOf 'Complex hereditary spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_211240 Genetic vascular anomaly 'Genetic vascular anomaly' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0019063 and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) 'Genetic vascular anomaly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021147 'Genetic vascular anomaly' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Genetic vascular anomaly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019063 'Genetic vascular anomaly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003847 http://purl.obolibrary.org/obo/GO_0006486 protein glycosylation 'protein glycosylation' SubClassOf 'part_of' some 'glycoprotein biosynthetic process' http://purl.obolibrary.org/obo/PO_0006036 root epidermis 'root epidermis' SubClassOf 'root' 'root epidermis' SubClassOf 'root' http://www.orpha.net/ORDO/Orphanet_320365 Autosomal dominant spastic paraplegia type 36 'Autosomal dominant spastic paraplegia type 36' SubClassOf 'Autosomal dominant complex spastic paraplegia' 'Autosomal dominant spastic paraplegia type 36' SubClassOf 'Autosomal dominant complex spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_262812 Partial trisomy/tetrasomy of the short arm of chromosome 18 'Partial trisomy/tetrasomy of the short arm of chromosome 18' SubClassOf 'Partial trisomy/tetrasomy of chromosome 18' 'Partial trisomy/tetrasomy of the short arm of chromosome 18' SubClassOf 'Partial trisomy/tetrasomy of chromosome 18' http://purl.obolibrary.org/obo/CHEBI_2955 azithromycin 'azithromycin' SubClassOf 'has_role' some 'antimicrobial agent' http://purl.obolibrary.org/obo/CHEBI_474053 cefazolin 'cefazolin' SubClassOf 'has_role' some 'antimicrobial agent' http://www.orpha.net/ORDO/Orphanet_320350 Pure or complex X-linked spastic paraplegia 'Pure or complex X-linked spastic paraplegia' SubClassOf 'Pure or complex hereditary spastic paraplegia' 'Pure or complex X-linked spastic paraplegia' SubClassOf 'Pure or complex hereditary spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_320355 Autosomal dominant spastic paraplegia type 41 'Autosomal dominant spastic paraplegia type 41' SubClassOf 'Autosomal dominant pure spastic paraplegia' 'Autosomal dominant spastic paraplegia type 41' SubClassOf 'Autosomal dominant pure spastic paraplegia' http://purl.obolibrary.org/obo/CL_0002092 bone marrow cell 'bone marrow cell' SubClassOf 'part_of' some 'bone marrow' http://www.orpha.net/ORDO/Orphanet_262803 Partial duplication of the short arm of chromosome 17 'Partial duplication of the short arm of chromosome 17' SubClassOf 'Partial duplication of chromosome 17' 'Partial duplication of the short arm of chromosome 17' SubClassOf 'Partial duplication of chromosome 17' http://www.orpha.net/ORDO/Orphanet_320342 Pure or complex autosomal dominant spastic paraplegia 'Pure or complex autosomal dominant spastic paraplegia' SubClassOf 'Pure or complex hereditary spastic paraplegia' 'Pure or complex autosomal dominant spastic paraplegia' SubClassOf 'Pure or complex hereditary spastic paraplegia' http://purl.obolibrary.org/obo/PO_0006057 cotyledon abaxial epidermis 'cotyledon abaxial epidermis' SubClassOf 'cotyledon' 'cotyledon abaxial epidermis' SubClassOf 'cotyledon' http://www.orpha.net/ORDO/Orphanet_320346 Pure or complex autosomal recessive spastic paraplegia 'Pure or complex autosomal recessive spastic paraplegia' SubClassOf 'Pure or complex hereditary spastic paraplegia' 'Pure or complex autosomal recessive spastic paraplegia' SubClassOf 'Pure or complex hereditary spastic paraplegia' http://purl.obolibrary.org/obo/PO_0006058 cotyledon adaxial epidermis 'cotyledon adaxial epidermis' SubClassOf 'cotyledon' 'cotyledon adaxial epidermis' SubClassOf 'cotyledon' http://www.ebi.ac.uk/efo/EFO_0009700 visual perception measurement 'visual perception measurement' SubClassOf 'brain measurement' 'visual perception measurement' SubClassOf 'brain measurement' 'visual perception measurement' SubClassOf 'is_about' some 'visual perception' http://www.orpha.net/ORDO/Orphanet_308684 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form 'Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form' SubClassOf 'Glycogen storage disease due to glycogen branching enzyme deficiency' 'Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form' SubClassOf 'Glycogen storage disease due to glycogen branching enzyme deficiency' http://www.ebi.ac.uk/efo/EFO_0009705 small intestine enteropathy 'small intestine enteropathy' SubClassOf 'digestive system disease' 'small intestine enteropathy' SubClassOf 'digestive system disease' 'small intestine enteropathy' SubClassOf 'has_disease_location' some ('digestive system' or ('part_of' some 'digestive system')) http://www.ebi.ac.uk/efo/EFO_0009706 latent autoimmune diabetes in adults 'latent autoimmune diabetes in adults' SubClassOf 'type I diabetes mellitus' 'latent autoimmune diabetes in adults' SubClassOf 'type I diabetes mellitus' 'latent autoimmune diabetes in adults' SubClassOf 'autoimmune disease' http://purl.obolibrary.org/obo/CLO_0013777 GM17188 'GM17188' SubClassOf 'cultured cell' 'GM17188' SubClassOf 'has_quality' some 'female' 'GM17188' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0009707 fractures, ununited 'fractures, ununited' SubClassOf 'bone fracture' 'fractures, ununited' SubClassOf 'bone fracture' http://www.orpha.net/ORDO/Orphanet_262878 Partial duplication of the long arm of chromosome 6 'Partial duplication of the long arm of chromosome 6' SubClassOf 'Partial duplication of chromosome 6' 'Partial duplication of the long arm of chromosome 6' SubClassOf 'Partial duplication of chromosome 6' http://purl.obolibrary.org/obo/CLO_0013775 GM17187 'GM17187' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17187' SubClassOf 'has_quality' some 'female' 'GM17187' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0009701 visceral:total adipose tissue ratio 'visceral:total adipose tissue ratio' SubClassOf 'adipose tissue measurement' 'visceral:total adipose tissue ratio' SubClassOf 'adipose tissue measurement' http://www.ebi.ac.uk/efo/EFO_0009702 intra-individual reaction time variability measurement 'intra-individual reaction time variability measurement' SubClassOf 'cognitive function measurement' 'intra-individual reaction time variability measurement' SubClassOf 'cognitive function measurement' 'intra-individual reaction time variability measurement' SubClassOf 'is_about' some 'cognition' http://www.ebi.ac.uk/efo/EFO_0009703 red blood cell folate measurement 'red blood cell folate measurement' SubClassOf 'folic acid measurement' 'red blood cell folate measurement' SubClassOf 'folic acid measurement' http://www.ebi.ac.uk/efo/EFO_0009704 radiation-induced brain injury 'radiation-induced brain injury' SubClassOf 'radiation-induced disorder' 'radiation-induced brain injury' SubClassOf 'has_disease_location' some ('brain' or ('part_of' some 'brain')) 'radiation-induced brain injury' SubClassOf 'radiation-induced disorder' http://www.ebi.ac.uk/efo/EFO_0009709 metastatic neoplasm 'metastatic neoplasm' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024882 http://www.orpha.net/ORDO/Orphanet_319332 Autosomal recessive myogenic arthrogryposis multiplex congenita 'Autosomal recessive myogenic arthrogryposis multiplex congenita' SubClassOf 'Congenital muscular dystrophy' 'Autosomal recessive myogenic arthrogryposis multiplex congenita' SubClassOf 'Arthrogryposis multiplex congenita' 'Autosomal recessive myogenic arthrogryposis multiplex congenita' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Autosomal recessive myogenic arthrogryposis multiplex congenita' SubClassOf 'Congenital muscular dystrophy' 'Autosomal recessive myogenic arthrogryposis multiplex congenita' SubClassOf 'Arthrogryposis multiplex congenita' http://www.orpha.net/ORDO/Orphanet_320335 Pure or complex hereditary spastic paraplegia 'Pure or complex hereditary spastic paraplegia' SubClassOf 'Hereditary spastic paraplegia' 'Pure or complex hereditary spastic paraplegia' SubClassOf 'Hereditary spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_320332 X-linked pure spastic paraplegia 'X-linked pure spastic paraplegia' SubClassOf 'Pure hereditary spastic paraplegia' 'X-linked pure spastic paraplegia' SubClassOf 'Pure hereditary spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_261552 Mowat-Wilson syndrome due to a ZEB2 point mutation 'Mowat-Wilson syndrome due to a ZEB2 point mutation' SubClassOf 'Mowat-Wilson syndrome' 'Mowat-Wilson syndrome due to a ZEB2 point mutation' SubClassOf 'Mowat-Wilson syndrome' http://purl.obolibrary.org/obo/CLO_0013781 GM17185 'GM17185' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17185' SubClassOf 'has_quality' some 'female' 'GM17185' SubClassOf 'cultured cell' http://www.orpha.net/ORDO/Orphanet_261537 Mowat-Wilson syndrome due to monosomy 2q22 'Mowat-Wilson syndrome due to monosomy 2q22' SubClassOf 'Mowat-Wilson syndrome' 'Mowat-Wilson syndrome due to monosomy 2q22' SubClassOf 'Partial deletion of the long arm of chromosome 2' 'Mowat-Wilson syndrome due to monosomy 2q22' SubClassOf 'Mowat-Wilson syndrome' 'Mowat-Wilson syndrome due to monosomy 2q22' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015652 'Mowat-Wilson syndrome due to monosomy 2q22' SubClassOf 'Partial deletion of the long arm of chromosome 2' http://www.orpha.net/ORDO/Orphanet_261534 49,XXXYY syndrome '49,XXXYY syndrome' SubClassOf 'X and Y chromosomal anomaly' '49,XXXYY syndrome' SubClassOf 'X and Y chromosomal anomaly' http://www.orpha.net/ORDO/Orphanet_262869 Partial trisomy of the long arm of chromosome 5 'Partial trisomy of the long arm of chromosome 5' SubClassOf 'Partial trisomy/tetrasomy of chromosome 5' 'Partial trisomy of the long arm of chromosome 5' SubClassOf 'Partial trisomy/tetrasomy of chromosome 5' http://purl.obolibrary.org/obo/CLO_0013784 GM17186 'GM17186' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17186' SubClassOf 'has_quality' some 'female' 'GM17186' SubClassOf 'cultured cell' http://www.orpha.net/ORDO/Orphanet_96097 Distal trisomy 5q 'Distal trisomy 5q' SubClassOf 'Partial trisomy of the long arm of chromosome 5' 'Distal trisomy 5q' SubClassOf 'Partial trisomy of the long arm of chromosome 5' http://www.orpha.net/ORDO/Orphanet_96098 Distal trisomy 6q 'Distal trisomy 6q' SubClassOf 'Partial duplication of the long arm of chromosome 6' 'Distal trisomy 6q' SubClassOf 'Partial duplication of the long arm of chromosome 6' http://www.orpha.net/ORDO/Orphanet_319340 Carney complex-trismus-pseudocamptodactyly syndrome 'Carney complex-trismus-pseudocamptodactyly syndrome' SubClassOf 'Genetic cardiac tumor' 'Carney complex-trismus-pseudocamptodactyly syndrome' SubClassOf 'Genetic hyperpigmentation of the skin' 'Carney complex-trismus-pseudocamptodactyly syndrome' SubClassOf 'Heart-hand syndrome' 'Carney complex-trismus-pseudocamptodactyly syndrome' SubClassOf 'skin neoplasm' 'Carney complex-trismus-pseudocamptodactyly syndrome' SubClassOf 'Heart-hand syndrome' 'Carney complex-trismus-pseudocamptodactyly syndrome' SubClassOf 'Carney complex' http://purl.obolibrary.org/obo/HP_0007565 Multiple cafe-au-lait spots 'Multiple cafe-au-lait spots' SubClassOf 'Cafe-au-lait spot' 'Multiple cafe-au-lait spots' SubClassOf 'Cafe-au-lait spot' http://purl.obolibrary.org/obo/BTO_0001679 obsolete_Th2-cell 'obsolete_Th2-cell' SubClassOf 'obsolete class' 'obsolete_Th2-cell' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/BTO_0001678 obsolete_Th1-cell 'obsolete_Th1-cell' SubClassOf 'obsolete class' 'obsolete_Th1-cell' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_308698 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form 'Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form' SubClassOf 'Glycogen storage disease due to glycogen branching enzyme deficiency' 'Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form' SubClassOf 'Glycogen storage disease due to glycogen branching enzyme deficiency' http://www.orpha.net/ORDO/Orphanet_96092 8p inverted duplication/deletion syndrome '8p inverted duplication/deletion syndrome' SubClassOf 'Complex chromosomal rearrangement' '8p inverted duplication/deletion syndrome' SubClassOf 'Complex chromosomal rearrangement' http://www.orpha.net/ORDO/Orphanet_96094 Distal trisomy 2q 'Distal trisomy 2q' SubClassOf 'Partial duplication of the long arm of chromosome 2' 'Distal trisomy 2q' SubClassOf 'Partial duplication of the long arm of chromosome 2' http://www.orpha.net/ORDO/Orphanet_96095 3q26 microduplication syndrome '3q26 microduplication syndrome' SubClassOf 'Partial duplication of the long arm of chromosome 3' '3q26 microduplication syndrome' SubClassOf 'Partial duplication of the long arm of chromosome 3' '3q26 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020226 http://www.orpha.net/ORDO/Orphanet_96096 Distal trisomy 4q 'Distal trisomy 4q' SubClassOf 'Partial duplication of the long arm of chromosome 4' 'Distal trisomy 4q' SubClassOf 'Partial duplication of the long arm of chromosome 4' http://www.orpha.net/ORDO/Orphanet_261529 Ring chromosome Y 'Ring chromosome Y' SubClassOf 'Chromosome Y structural anomaly' 'Ring chromosome Y' SubClassOf 'Chromosome Y structural anomaly' http://www.orpha.net/ORDO/Orphanet_261524 Paternal uniparental disomy of chromosome X 'Paternal uniparental disomy of chromosome X' SubClassOf 'Uniparental disomy of chromosome X' 'Paternal uniparental disomy of chromosome X' SubClassOf 'Uniparental disomy of chromosome X' http://purl.obolibrary.org/obo/CLO_0013755 GM17181 'GM17181' SubClassOf 'has_quality' some 'female' 'GM17181' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17181' SubClassOf 'cultured cell' http://purl.obolibrary.org/obo/CLO_0013754 GM17182 'GM17182' SubClassOf 'has_quality' some 'female' 'GM17182' SubClassOf 'cultured cell' 'GM17182' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/CLO_0013753 GM17183 'GM17183' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17183' SubClassOf 'has_quality' some 'female' 'GM17183' SubClassOf 'cultured cell' http://purl.obolibrary.org/obo/CLO_0013752 GM17184 'GM17184' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17184' SubClassOf 'has_quality' some 'female' 'GM17184' SubClassOf 'cultured cell' http://purl.obolibrary.org/obo/CLO_0013751 GM17180 'GM17180' SubClassOf 'has_quality' some 'female' 'GM17180' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17180' SubClassOf 'cultured cell' http://www.orpha.net/ORDO/Orphanet_262860 Partial duplication of the long arm of chromosome 4 'Partial duplication of the long arm of chromosome 4' SubClassOf 'Partial duplication of chromosome 4' 'Partial duplication of the long arm of chromosome 4' SubClassOf 'Partial duplication of chromosome 4' 'Partial duplication of the long arm of chromosome 4' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000762 http://purl.obolibrary.org/obo/PO_0006001 phyllome 'phyllome' SubClassOf 'shoot system' 'phyllome' SubClassOf 'shoot system' http://www.orpha.net/ORDO/Orphanet_320317 Cleft lip/palate - ectodermal dysplasia 'Cleft lip/palate - ectodermal dysplasia' SubClassOf 'Ectodermal dysplasia syndrome' 'Cleft lip/palate - ectodermal dysplasia' SubClassOf 'Ectodermal dysplasia syndrome' http://www.orpha.net/ORDO/Orphanet_261519 Maternal uniparental disomy of chromosome X 'Maternal uniparental disomy of chromosome X' SubClassOf 'Uniparental disomy of chromosome X' 'Maternal uniparental disomy of chromosome X' SubClassOf 'Uniparental disomy of chromosome X' http://www.orpha.net/ORDO/Orphanet_308670 Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form 'Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form' SubClassOf 'Glycogen storage disease due to glycogen branching enzyme deficiency' 'Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form' SubClassOf 'Glycogen storage disease due to glycogen branching enzyme deficiency' http://www.ebi.ac.uk/efo/EFO_0009718 peak expiratory flow 'peak expiratory flow' SubClassOf 'pulmonary function measurement' http://www.orpha.net/ORDO/Orphanet_319328 Inherited renal cancer-predisposing syndrome 'Inherited renal cancer-predisposing syndrome' SubClassOf 'Inherited cancer-predisposing syndrome' 'Inherited renal cancer-predisposing syndrome' SubClassOf 'kidney disease' 'Inherited renal cancer-predisposing syndrome' SubClassOf 'Inherited cancer-predisposing syndrome' http://www.ebi.ac.uk/efo/EFO_0009714 chronic disease 'chronic disease' SubClassOf 'has modifier' some 'chronic' http://www.orpha.net/ORDO/Orphanet_262851 Partial duplication of the long arm of chromosome 3 'Partial duplication of the long arm of chromosome 3' SubClassOf 'Partial duplication of chromosome 3' 'Partial duplication of the long arm of chromosome 3' SubClassOf 'Partial duplication of chromosome 3' http://www.ebi.ac.uk/efo/EFO_0007441 placenta disease 'placenta disease' SubClassOf 'female reproductive system disease' 'placenta disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002654 'placenta disease' SubClassOf 'pregnancy disorder' 'placenta disease' EquivalentTo 'has_disease_location' some ('placenta' or ('part_of' some 'placenta')) http://www.ebi.ac.uk/efo/EFO_0008773 ICE 'ICE' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0007440 placenta accreta 'placenta accreta' SubClassOf 'placenta disease' 'placenta accreta' SubClassOf 'placenta disease' http://www.ebi.ac.uk/efo/EFO_0008774 iCLIP 'iCLIP' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008775 icSHAPE 'icSHAPE' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.orpha.net/ORDO/Orphanet_261902 Partial deletion of the short arm of chromosome 6 'Partial deletion of the short arm of chromosome 6' SubClassOf 'Partial deletion of chromosome 6' 'Partial deletion of the short arm of chromosome 6' SubClassOf 'Partial deletion of chromosome 6' http://www.ebi.ac.uk/efo/EFO_0008776 iDES 'iDES' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0007445 Plasmodium vivax malaria 'Plasmodium vivax malaria' SubClassOf 'malaria' 'Plasmodium vivax malaria' SubClassOf 'malaria' http://www.ebi.ac.uk/efo/EFO_0007444 Plasmodium falciparum malaria 'Plasmodium falciparum malaria' SubClassOf 'malaria' 'Plasmodium falciparum malaria' SubClassOf 'malaria' http://www.ebi.ac.uk/efo/EFO_0008770 HTGTS 'HTGTS' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://purl.obolibrary.org/obo/CHEBI_73048 O-[(4Z)-decenoyl]carnitine 'O-[(4Z)-decenoyl]carnitine' SubClassOf 'chemical entity' 'O-[(4Z)-decenoyl]carnitine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/UBERON_0005945 neurocranial trabecula 'neurocranial trabecula' SubClassOf 'cartilage element of chondrocranium' 'neurocranial trabecula' SubClassOf 'cartilage element of chondrocranium' 'neurocranial trabecula' SubClassOf 'part_of' some 'olfactory region' http://www.ebi.ac.uk/efo/EFO_0007443 placental insufficiency 'placental insufficiency' SubClassOf 'placenta disease' 'placental insufficiency' SubClassOf 'placenta disease' 'placental insufficiency' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://www.ebi.ac.uk/efo/EFO_0008771 HydEn-seq 'HydEn-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0007442 placenta praevia 'placenta praevia' SubClassOf 'placenta disease' 'placenta praevia' SubClassOf 'placenta disease' http://www.ebi.ac.uk/efo/EFO_0008772 hyRAD 'hyRAD' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0007449 pneumonic pasteurellosis 'pneumonic pasteurellosis' SubClassOf 'bacterial disease' 'pneumonic pasteurellosis' SubClassOf 'bacterial disease' http://www.ebi.ac.uk/efo/EFO_0007448 pneumocystosis 'pneumocystosis' SubClassOf 'immune system disease' 'pneumocystosis' SubClassOf 'fungal lung infectious disease' 'pneumocystosis' SubClassOf 'pneumonia' 'pneumocystosis' SubClassOf 'immune system disease' 'pneumocystosis' SubClassOf 'Pneumocystis infectious disease' 'pneumocystosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002312 'pneumocystosis' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://www.ebi.ac.uk/efo/EFO_0007447 Pneumocystis infectious disease 'Pneumocystis infectious disease' SubClassOf 'infectious disease' 'Pneumocystis infectious disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002041 'Pneumocystis infectious disease' SubClassOf 'infectious disease' http://www.ebi.ac.uk/efo/EFO_0007446 pleural tuberculosis 'pleural tuberculosis' SubClassOf 'Tuberculosis' 'pleural tuberculosis' SubClassOf 'pleurisy' 'pleural tuberculosis' SubClassOf 'Tuberculosis' 'pleural tuberculosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024355 'pleural tuberculosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000368 http://www.ebi.ac.uk/efo/EFO_0008777 Ig-Seq 'Ig-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008778 IMS-MDA 'IMS-MDA' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008779 in-cell SHAPE-Seq 'in-cell SHAPE-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.orpha.net/ORDO/Orphanet_247604 Juvenile primary lateral sclerosis 'Juvenile primary lateral sclerosis' SubClassOf 'Genetic motor neuron disease' 'Juvenile primary lateral sclerosis' SubClassOf 'Primary lateral sclerosis' http://www.ebi.ac.uk/efo/EFO_0007430 persian gulf syndrome 'persian gulf syndrome' SubClassOf 'disease' 'persian gulf syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 http://www.ebi.ac.uk/efo/EFO_0008762 hi-CLIP 'hi-CLIP' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008763 Hi-SCL 'Hi-SCL' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008764 Histone meth. 'Histone meth.' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008765 HiTS-Flip 'HiTS-Flip' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0007434 pharyngoconjunctival fever 'pharyngoconjunctival fever' SubClassOf 'viral disease' 'pharyngoconjunctival fever' SubClassOf 'has_disease_location' some ('chordate pharynx' or ('part_of' some 'chordate pharynx')) 'pharyngoconjunctival fever' SubClassOf 'viral disease' 'pharyngoconjunctival fever' SubClassOf 'has_disease_location' some ('conjunctiva' or ('part_of' some 'conjunctiva')) 'pharyngoconjunctival fever' SubClassOf 'disease has feature' some http://purl.obolibrary.org/obo/MONDO_0002258 'pharyngoconjunctival fever' SubClassOf 'disease has feature' some 'conjunctivitis' 'pharyngoconjunctival fever' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043479 http://www.ebi.ac.uk/efo/EFO_0007433 phagocyte bactericidal dysfunction 'phagocyte bactericidal dysfunction' SubClassOf 'immune system disease' 'phagocyte bactericidal dysfunction' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024627 'phagocyte bactericidal dysfunction' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003778 'phagocyte bactericidal dysfunction' SubClassOf 'immune system disease' 'phagocyte bactericidal dysfunction' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004805 http://www.ebi.ac.uk/efo/EFO_0007432 Pestivirus infectious disease 'Pestivirus infectious disease' SubClassOf 'viral disease' 'Pestivirus infectious disease' SubClassOf 'viral disease' 'Pestivirus infectious disease' SubClassOf 'Flaviviridae infectious disease' http://www.ebi.ac.uk/efo/EFO_0008760 GUIDE-seq 'GUIDE-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0007431 peste des petits ruminants infectious disease 'peste des petits ruminants infectious disease' SubClassOf 'viral disease' 'peste des petits ruminants infectious disease' SubClassOf 'Morbillivirus infectious disease' 'peste des petits ruminants infectious disease' SubClassOf 'viral disease' 'peste des petits ruminants infectious disease' SubClassOf 'animal disease' http://www.ebi.ac.uk/efo/EFO_0008761 HELP-Seq 'HELP-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.orpha.net/ORDO/Orphanet_209335 Adult-onset proximal spinal muscular atrophy, autosomal dominant 'Adult-onset proximal spinal muscular atrophy, autosomal dominant' SubClassOf 'Autosomal dominant proximal spinal muscular atrophy' 'Adult-onset proximal spinal muscular atrophy, autosomal dominant' SubClassOf 'Autosomal dominant proximal spinal muscular atrophy' http://www.ebi.ac.uk/efo/EFO_0007438 Picornaviridae infectious disease 'Picornaviridae infectious disease' SubClassOf 'viral disease' 'Picornaviridae infectious disease' SubClassOf 'viral disease' http://www.ebi.ac.uk/efo/EFO_0007437 Phlebotomus fever 'Phlebotomus fever' SubClassOf 'viral disease' 'Phlebotomus fever' SubClassOf 'viral disease' http://www.ebi.ac.uk/efo/EFO_0007436 phencyclidine abuse 'phencyclidine abuse' SubClassOf 'drug dependence' 'phencyclidine abuse' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002491 'phencyclidine abuse' SubClassOf 'drug dependence' http://www.ebi.ac.uk/efo/EFO_0007435 obsolete_pharynx 'obsolete_pharynx' SubClassOf 'obsolete class' 'obsolete_pharynx' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0008766 HITS-RAP 'HITS-RAP' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008767 hMeDIP-seq 'hMeDIP-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008768 HT-ChIP 'HT-ChIP' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0007439 pityriasis versicolor 'pityriasis versicolor' SubClassOf 'infectious disease' 'pityriasis versicolor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024294 'pityriasis versicolor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024268 'pityriasis versicolor' SubClassOf 'exanthem' 'pityriasis versicolor' SubClassOf 'infectious disease' http://www.ebi.ac.uk/efo/EFO_0008769 HT-SELEX 'HT-SELEX' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://purl.obolibrary.org/obo/CHEBI_73067 O-palmitoylcarnitine 'O-palmitoylcarnitine' SubClassOf 'chemical entity' 'O-palmitoylcarnitine' SubClassOf 'chemical entity' http://dbpedia.org/resource/Republic_of_Ireland Republic of Ireland 'Republic of Ireland' SubClassOf 'country' 'Republic of Ireland' SubClassOf 'country' http://www.ebi.ac.uk/efo/EFO_0007463 renal tuberculosis 'renal tuberculosis' SubClassOf 'kidney disease' 'renal tuberculosis' SubClassOf 'Tuberculosis' 'renal tuberculosis' SubClassOf 'has_disease_location' some ('kidney' or ('part_of' some 'kidney')) 'renal tuberculosis' SubClassOf 'urinary tract infection' 'renal tuberculosis' SubClassOf 'kidney disease' 'renal tuberculosis' SubClassOf 'urogenital tuberculosis' 'renal tuberculosis' SubClassOf 'Tuberculosis' http://www.ebi.ac.uk/efo/EFO_0008795 MARIO 'MARIO' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0007462 REM sleep behavior disorder 'REM sleep behavior disorder' SubClassOf 'Sleep Disorder' 'REM sleep behavior disorder' SubClassOf 'Sleep Disorder' 'REM sleep behavior disorder' SubClassOf 'mental or behavioural disorder' http://www.ebi.ac.uk/efo/EFO_0008796 MARS-seq 'MARS-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0007461 recurrent pneumonia 'recurrent pneumonia' SubClassOf 'pneumonia' 'recurrent pneumonia' SubClassOf 'pneumonia' 'recurrent pneumonia' SubClassOf 'has_disease_location' some ('respiratory system' or ('part_of' some 'respiratory system')) http://www.ebi.ac.uk/efo/EFO_0008797 MATQ-seq 'MATQ-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0007460 reactive arthritis 'reactive arthritis' SubClassOf 'arthritis' 'reactive arthritis' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'reactive arthritis' SubClassOf 'arthritis' http://www.ebi.ac.uk/efo/EFO_0008798 MBDCap-Seq 'MBDCap-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0007467 Reye syndrome 'Reye syndrome' SubClassOf 'central nervous system disease' 'Reye syndrome' SubClassOf 'brain disease' 'Reye syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015938 'Reye syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Reye syndrome' SubClassOf 'has_disease_location' some ('brain' or ('part_of' some 'brain')) 'Reye syndrome' SubClassOf 'brain disease' http://www.ebi.ac.uk/efo/EFO_0008791 MAF 'MAF' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0007466 retroperitoneal cancer 'retroperitoneal cancer' SubClassOf 'carcinoma' 'retroperitoneal cancer' SubClassOf 'has_disease_location' some ('retroperitoneum' or ('part_of' some 'retroperitoneum')) 'retroperitoneal cancer' SubClassOf 'cancer' 'retroperitoneal cancer' SubClassOf 'carcinoma' 'retroperitoneal cancer' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024645 http://www.ebi.ac.uk/efo/EFO_0008792 MAINE-Seq 'MAINE-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0007465 Respirovirus infectious disease 'Respirovirus infectious disease' SubClassOf 'viral disease' 'Respirovirus infectious disease' SubClassOf 'Paramyxoviridae infectious disease' 'Respirovirus infectious disease' SubClassOf 'viral disease' http://www.ebi.ac.uk/efo/EFO_0008793 MALBAC 'MALBAC' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://purl.obolibrary.org/obo/UBERON_0003307 floor plate of midbrain 'floor plate of midbrain' SubClassOf 'embryonic structure' 'floor plate of midbrain' SubClassOf 'floor plate neural tube' 'floor plate of midbrain' SubClassOf 'embryonic structure' 'floor plate of midbrain' SubClassOf 'part_of' some 'midbrain' 'floor plate of midbrain' SubClassOf 'part_of' some 'floor plate' http://www.ebi.ac.uk/efo/EFO_0007464 Reoviridae infectious disease 'Reoviridae infectious disease' SubClassOf 'viral disease' 'Reoviridae infectious disease' SubClassOf 'viral disease' http://www.ebi.ac.uk/efo/EFO_0008794 MARDI 'MARDI' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://purl.obolibrary.org/obo/CHEBI_86387 3-methyladipate(2-) '3-methyladipate(2-)' SubClassOf 'chemical entity' '3-methyladipate(2-)' SubClassOf 'chemical entity' http://www.ebi.ac.uk/efo/EFO_0007469 Rhabdoviridae infectious disease 'Rhabdoviridae infectious disease' SubClassOf 'viral disease' 'Rhabdoviridae infectious disease' SubClassOf 'Mononegavirales infectious disease' 'Rhabdoviridae infectious disease' SubClassOf 'viral disease' http://www.ebi.ac.uk/efo/EFO_0007468 Rhabditida infectious disease 'Rhabditida infectious disease' SubClassOf 'parasitic infection' 'Rhabditida infectious disease' SubClassOf 'parasitic infection' 'Rhabditida infectious disease' SubClassOf 'Nematoda infectious disease' http://www.ebi.ac.uk/efo/EFO_0008799 MCC-Seq 'MCC-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.orpha.net/ORDO/Orphanet_402364 Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly 'Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly' SubClassOf 'Syndrome with microcephaly as major feature' 'Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly' SubClassOf 'Syndrome with microcephaly as major feature' http://www.orpha.net/ORDO/Orphanet_209341 Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures 'Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures' SubClassOf 'Autosomal dominant childhood-onset proximal spinal muscular atrophy' 'Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures' SubClassOf 'Autosomal dominant childhood-onset proximal spinal muscular atrophy' 'Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures' SubClassOf 'Genetic neurodegenerative disease' http://www.ebi.ac.uk/efo/EFO_0007470 rhinoscleroma 'rhinoscleroma' SubClassOf 'bacterial disease' 'rhinoscleroma' SubClassOf 'has_disease_location' some ('respiratory system' or ('part_of' some 'respiratory system')) 'rhinoscleroma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0030603 'rhinoscleroma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000314 'rhinoscleroma' SubClassOf 'bacterial disease' http://purl.obolibrary.org/obo/CHEBI_73074 O-stearoylcarnitine 'O-stearoylcarnitine' SubClassOf 'chemical entity' 'O-stearoylcarnitine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_73072 O-linoleoylcarnitine 'O-linoleoylcarnitine' SubClassOf 'chemical entity' 'O-linoleoylcarnitine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_86392 4-guanidinobutanoate '4-guanidinobutanoate' SubClassOf 'chemical entity' '4-guanidinobutanoate' SubClassOf 'chemical entity' http://www.ebi.ac.uk/efo/EFO_0007452 post-thrombotic syndrome 'post-thrombotic syndrome' SubClassOf 'vascular disease' 'post-thrombotic syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000945 'post-thrombotic syndrome' SubClassOf 'vascular disease' http://www.ebi.ac.uk/efo/EFO_0008784 LAM-HTGTS 'LAM-HTGTS' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0007451 Polyomavirus infectious disease 'Polyomavirus infectious disease' SubClassOf 'viral disease' 'Polyomavirus infectious disease' SubClassOf 'viral disease' http://www.ebi.ac.uk/efo/EFO_0008785 LIANTI 'LIANTI' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0007450 poliomyelitis 'poliomyelitis' SubClassOf 'central nervous system disease' 'poliomyelitis' SubClassOf 'viral disease' 'poliomyelitis' SubClassOf 'viral disease' 'poliomyelitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020683 'poliomyelitis' SubClassOf 'Myelitis' 'poliomyelitis' SubClassOf 'has_disease_location' some ('motor neuron' or ('part_of' some 'motor neuron')) 'poliomyelitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024318 'poliomyelitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003182 'poliomyelitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024618 'poliomyelitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020129 http://www.ebi.ac.uk/efo/EFO_0008786 LM-Seq 'LM-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008787 Look-Seq 'Look-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://purl.obolibrary.org/obo/UBERON_0004648 esophagus muscularis mucosa 'esophagus muscularis mucosa' SubClassOf 'part_of' some 'esophagus mucosa' 'esophagus muscularis mucosa' EquivalentTo 'muscularis mucosa' and ('part_of' some 'esophagus') 'esophagus muscularis mucosa' SubClassOf 'part_of' some 'esophagus' http://www.ebi.ac.uk/efo/EFO_0007456 pseudomyxoma peritonei 'pseudomyxoma peritonei' SubClassOf 'appendiceal neoplasm' 'pseudomyxoma peritonei' SubClassOf 'appendiceal neoplasm' http://www.ebi.ac.uk/efo/EFO_0008780 inDrop 'inDrop' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0007455 progressive multifocal leukoencephalopathy 'progressive multifocal leukoencephalopathy' SubClassOf 'viral disease' 'progressive multifocal leukoencephalopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019956 'progressive multifocal leukoencephalopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020067 'progressive multifocal leukoencephalopathy' SubClassOf 'viral disease' http://www.ebi.ac.uk/efo/EFO_0008781 ini-seq 'ini-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0007454 postpoliomyelitis syndrome 'postpoliomyelitis syndrome' SubClassOf 'viral disease' 'postpoliomyelitis syndrome' SubClassOf 'participates_in' some 'Atrophy' 'postpoliomyelitis syndrome' SubClassOf 'viral disease' 'postpoliomyelitis syndrome' SubClassOf 'poliomyelitis' 'postpoliomyelitis syndrome' SubClassOf 'has_disease_location' some ('musculature of body' or ('part_of' some 'musculature of body')) 'postpoliomyelitis syndrome' SubClassOf 'has_disease_location' some 'muscle cell' http://www.ebi.ac.uk/efo/EFO_0008782 INSeq 'INSeq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0007453 postpartum depression 'postpartum depression' SubClassOf 'unipolar depression' 'postpartum depression' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002050 'postpartum depression' SubClassOf 'unipolar depression' http://www.ebi.ac.uk/efo/EFO_0008783 IVT-SAPAS 'IVT-SAPAS' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0007458 pulmonary blastoma 'pulmonary blastoma' SubClassOf 'lung disease' 'pulmonary blastoma' SubClassOf 'carcinoma' 'pulmonary blastoma' SubClassOf 'respiratory system neoplasm' 'pulmonary blastoma' SubClassOf 'carcinoma' 'pulmonary blastoma' SubClassOf 'has_disease_location' some ('lung' or ('part_of' some 'lung')) 'pulmonary blastoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015119 'pulmonary blastoma' SubClassOf 'blastoma' 'pulmonary blastoma' SubClassOf 'Lung Sarcomatoid Carcinoma' http://www.ebi.ac.uk/efo/EFO_0007457 pseudorabies 'pseudorabies' SubClassOf 'viral disease' 'pseudorabies' SubClassOf 'has_disease_location' some ('peripheral nervous system' or ('part_of' some 'peripheral nervous system')) 'pseudorabies' SubClassOf 'viral disease' http://www.ebi.ac.uk/efo/EFO_0008788 m1A mapping 'm1A mapping' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008789 M6A-RIP 'M6A-RIP' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008790 m6A-seq 'm6A-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0007485 silicosis 'silicosis' SubClassOf 'pneumoconiosis' 'silicosis' SubClassOf 'pneumoconiosis' http://www.ebi.ac.uk/efo/EFO_0007484 sick building syndrome 'sick building syndrome' SubClassOf 'allergy' 'sick building syndrome' SubClassOf 'has_disease_location' some ('alveolus' or ('part_of' some 'alveolus')) 'sick building syndrome' SubClassOf 'extrinsic allergic alveolitis' 'sick building syndrome' SubClassOf 'allergy' http://www.orpha.net/ORDO/Orphanet_261947 Partial deletion of the short arm of chromosome 11 'Partial deletion of the short arm of chromosome 11' SubClassOf 'Partial deletion of chromosome 11' 'Partial deletion of the short arm of chromosome 11' SubClassOf 'Partial deletion of chromosome 11' http://www.ebi.ac.uk/efo/EFO_0007483 sex cord-gonadal stromal tumor 'sex cord-gonadal stromal tumor' SubClassOf 'carcinoma' 'sex cord-gonadal stromal tumor' SubClassOf 'carcinoma' 'sex cord-gonadal stromal tumor' SubClassOf 'has_disease_location' some ('reproductive system' or ('part_of' some 'reproductive system')) http://www.ebi.ac.uk/efo/EFO_0007482 setariasis 'setariasis' SubClassOf 'skin disease' 'setariasis' SubClassOf 'Nematoda infectious disease' 'setariasis' SubClassOf 'skin disease' 'setariasis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016075 http://www.ebi.ac.uk/efo/EFO_0007489 sphenoid sinusitis 'sphenoid sinusitis' SubClassOf 'sinusitis' 'sphenoid sinusitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023369 'sphenoid sinusitis' SubClassOf 'sinusitis' http://www.ebi.ac.uk/efo/EFO_0007488 sparganosis 'sparganosis' SubClassOf 'parasitic infection' 'sparganosis' SubClassOf 'parasitic infection' 'sparganosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0042488 http://www.ebi.ac.uk/efo/EFO_0007487 skeletal tuberculosis 'skeletal tuberculosis' SubClassOf 'Tuberculosis' 'skeletal tuberculosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000368 'skeletal tuberculosis' SubClassOf 'Tuberculosis' 'skeletal tuberculosis' SubClassOf 'has_disease_location' some 'bone' http://www.ebi.ac.uk/efo/EFO_0007486 sinusitis 'sinusitis' SubClassOf 'respiratory system disease' 'sinusitis' SubClassOf 'respiratory system disease' 'sinusitis' SubClassOf 'paranasal sinus disease' 'sinusitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021166 http://purl.obolibrary.org/obo/CHEBI_50370 parasympatholytic 'parasympatholytic' SubClassOf 'inheres_in' some 'chemical entity' http://www.orpha.net/ORDO/Orphanet_221016 Rothmund-Thomson syndrome type 2 'Rothmund-Thomson syndrome type 2' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Rothmund-Thomson syndrome type 2' SubClassOf 'Disease with potential neoplastic degeneration associated with ocular features' 'Rothmund-Thomson syndrome type 2' SubClassOf 'Rothmund-Thomson syndrome' 'Rothmund-Thomson syndrome type 2' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Rothmund-Thomson syndrome type 2' SubClassOf 'Disease with potential neoplastic degeneration associated with ocular features' 'Rothmund-Thomson syndrome type 2' SubClassOf 'Rothmund-Thomson syndrome' http://www.ebi.ac.uk/efo/EFO_0007492 splenic tuberculosis 'splenic tuberculosis' SubClassOf 'Tuberculosis' 'splenic tuberculosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043424 'splenic tuberculosis' SubClassOf 'Tuberculosis' 'splenic tuberculosis' SubClassOf 'has_disease_location' some ('spleen' or ('part_of' some 'spleen')) http://www.ebi.ac.uk/efo/EFO_0007491 spleen cancer 'spleen cancer' SubClassOf 'splenic disease' 'spleen cancer' SubClassOf 'carcinoma' 'spleen cancer' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002516 'spleen cancer' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000612 'spleen cancer' SubClassOf 'has_disease_location' some ('spleen' or ('part_of' some 'spleen')) 'spleen cancer' SubClassOf 'carcinoma' 'spleen cancer' SubClassOf http://purl.obolibrary.org/obo/MONDO_0036696 http://dbpedia.org/resource/Iran Iran 'Iran' SubClassOf 'country' 'Iran' SubClassOf 'country' http://www.ebi.ac.uk/efo/EFO_0007490 spinal stenosis 'spinal stenosis' SubClassOf 'bone disease' 'spinal stenosis' SubClassOf 'bone disease' 'spinal stenosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000812 'spinal stenosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000834 http://www.ebi.ac.uk/efo/EFO_0007474 Roseolovirus infectious disease 'Roseolovirus infectious disease' SubClassOf 'viral disease' 'Roseolovirus infectious disease' SubClassOf 'viral disease' 'Roseolovirus infectious disease' SubClassOf 'Herpesviridae infectious disease' http://www.ebi.ac.uk/efo/EFO_0007473 Ritter's disease 'Ritter's disease' SubClassOf 'bacterial disease' 'Ritter's disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024295 'Ritter's disease' SubClassOf 'Staphylococcus aureus infection' 'Ritter's disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000315 'Ritter's disease' SubClassOf 'bacterial disease' http://www.ebi.ac.uk/efo/EFO_0007472 rickettsial pneumonia 'rickettsial pneumonia' SubClassOf 'pneumonia' 'rickettsial pneumonia' SubClassOf 'pneumonia' 'rickettsial pneumonia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0041850 'rickettsial pneumonia' SubClassOf 'Rickettsiaceae infectious disease' http://www.ebi.ac.uk/efo/EFO_0007471 rhinosporidiosis 'rhinosporidiosis' SubClassOf 'parasitic infection' 'rhinosporidiosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000307 'rhinosporidiosis' SubClassOf 'parasitic infection' http://www.ebi.ac.uk/efo/EFO_0007478 scirrhous adenocarcinoma 'scirrhous adenocarcinoma' SubClassOf 'adenocarcinoma' 'scirrhous adenocarcinoma' SubClassOf 'adenocarcinoma' 'scirrhous adenocarcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002176 'scirrhous adenocarcinoma' SubClassOf 'has_disease_location' some 'stromal cell' http://www.ebi.ac.uk/efo/EFO_0007477 scarlet fever 'scarlet fever' SubClassOf 'respiratory system disease' 'scarlet fever' SubClassOf 'disease has feature' some 'exanthem' 'scarlet fever' SubClassOf 'has_disease_location' some ('respiratory system' or ('part_of' some 'respiratory system')) 'scarlet fever' SubClassOf 'streptococcal infection' 'scarlet fever' SubClassOf 'respiratory system disease' http://www.ebi.ac.uk/efo/EFO_0007476 sarcocystosis 'sarcocystosis' SubClassOf 'parasitic infection' 'sarcocystosis' SubClassOf 'coccidiosis' 'sarcocystosis' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'sarcocystosis' SubClassOf 'parasitic infection' http://www.ebi.ac.uk/efo/EFO_0007475 Salmonella gastroenteritis 'Salmonella gastroenteritis' SubClassOf 'bacterial disease' 'Salmonella gastroenteritis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043424 'Salmonella gastroenteritis' SubClassOf 'gastroenteritis' 'Salmonella gastroenteritis' SubClassOf 'bacterial disease' 'Salmonella gastroenteritis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000827 http://www.ebi.ac.uk/efo/EFO_0007479 screw worm infectious disease 'screw worm infectious disease' SubClassOf 'parasitic infection' 'screw worm infectious disease' SubClassOf 'myiasis' 'screw worm infectious disease' SubClassOf 'parasitic infection' http://purl.obolibrary.org/obo/UBERON_2001200 corpuscles of Stannius 'corpuscles of Stannius' SubClassOf 'endocrine gland' http://www.orpha.net/ORDO/Orphanet_261938 Partial deletion of the short arm of chromosome 10 'Partial deletion of the short arm of chromosome 10' SubClassOf 'Partial deletion of chromosome 10' 'Partial deletion of the short arm of chromosome 10' SubClassOf 'Partial deletion of chromosome 10' http://www.orpha.net/ORDO/Orphanet_221008 Rothmund-Thomson syndrome type 1 'Rothmund-Thomson syndrome type 1' SubClassOf 'Rothmund-Thomson syndrome' 'Rothmund-Thomson syndrome type 1' SubClassOf 'Rothmund-Thomson syndrome' http://purl.obolibrary.org/obo/CHEBI_49375 dasatinib 'dasatinib' SubClassOf 'has_role' some 'antineoplastic agent' http://purl.obolibrary.org/obo/PO_0008016 vegetative shoot apical meristem 'vegetative shoot apical meristem' SubClassOf 'shoot apical meristem' 'vegetative shoot apical meristem' SubClassOf 'shoot apical meristem' http://www.orpha.net/ORDO/Orphanet_247651 Infantile hypophosphatasia 'Infantile hypophosphatasia' SubClassOf 'Hypophosphatasia' 'Infantile hypophosphatasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020014 'Infantile hypophosphatasia' SubClassOf 'Hypophosphatasia' http://www.ebi.ac.uk/efo/EFO_0007481 septicemic plague 'septicemic plague' SubClassOf 'Yersinia pestis infectious disease' 'septicemic plague' SubClassOf 'Yersinia pestis infectious disease' 'septicemic plague' SubClassOf 'hematologic disease' 'septicemic plague' SubClassOf 'has_disease_location' some ('blood' or ('part_of' some 'blood')) http://www.ebi.ac.uk/efo/EFO_0007480 scrub typhus 'scrub typhus' SubClassOf 'typhus' 'scrub typhus' SubClassOf 'typhus' http://www.orpha.net/ORDO/Orphanet_209370 Severe neonatal-onset encephalopathy with microcephaly 'Severe neonatal-onset encephalopathy with microcephaly' SubClassOf 'Monogenic disease with epilepsy' 'Severe neonatal-onset encephalopathy with microcephaly' SubClassOf 'Neonatal epilepsy syndrome' 'Severe neonatal-onset encephalopathy with microcephaly' SubClassOf 'Monogenic disease with epilepsy' 'Severe neonatal-onset encephalopathy with microcephaly' SubClassOf 'Neonatal epilepsy syndrome' http://purl.obolibrary.org/obo/CHEBI_48028 HC toxin 'HC toxin' SubClassOf 'has_role' some 'toxin' http://www.orpha.net/ORDO/Orphanet_261920 Partial deletion of the short arm of chromosome 8 'Partial deletion of the short arm of chromosome 8' SubClassOf 'Partial deletion of chromosome 8' 'Partial deletion of the short arm of chromosome 8' SubClassOf 'Partial deletion of chromosome 8' http://www.orpha.net/ORDO/Orphanet_330197 Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' SubClassOf 'Rare genetic neurological disorder' 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019042 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 http://www.orpha.net/ORDO/Orphanet_261929 Partial deletion of the short arm of chromosome 9 'Partial deletion of the short arm of chromosome 9' SubClassOf 'Partial deletion of chromosome 9' 'Partial deletion of the short arm of chromosome 9' SubClassOf 'Partial deletion of chromosome 9' http://www.orpha.net/ORDO/Orphanet_221039 Hereditary sclerosing poikiloderma, Weary type 'Hereditary sclerosing poikiloderma, Weary type' SubClassOf 'Hereditary poikiloderma' 'Hereditary sclerosing poikiloderma, Weary type' SubClassOf 'Hereditary poikiloderma' http://www.orpha.net/ORDO/Orphanet_247623 Perinatal lethal hypophosphatasia 'Perinatal lethal hypophosphatasia' SubClassOf 'Hypophosphatasia' 'Perinatal lethal hypophosphatasia' SubClassOf 'Infantile hypophosphatasia' http://www.ebi.ac.uk/efo/EFO_0007496 staphylococcal pneumonia 'staphylococcal pneumonia' SubClassOf 'pneumonia' 'staphylococcal pneumonia' SubClassOf 'pneumonia' 'staphylococcal pneumonia' SubClassOf 'bacterial pneumonia' 'staphylococcal pneumonia' SubClassOf 'staphylococcal skin infections' http://www.ebi.ac.uk/efo/EFO_0007495 St. Louis encephalitis 'St. Louis encephalitis' SubClassOf 'viral disease' 'St. Louis encephalitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015659 'St. Louis encephalitis' SubClassOf 'viral disease' 'St. Louis encephalitis' SubClassOf 'Flaviviridae infectious disease' 'St. Louis encephalitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020601 http://www.orpha.net/ORDO/Orphanet_329191 Tall stature - scoliosis - macrodactyly of the great toes 'Tall stature - scoliosis - macrodactyly of the great toes' SubClassOf 'Dysostosis with predominant vertebral and costal involvement' 'Tall stature - scoliosis - macrodactyly of the great toes' SubClassOf 'Dysostosis with predominant vertebral and costal involvement' http://www.ebi.ac.uk/efo/EFO_0007494 sporotrichosis 'sporotrichosis' SubClassOf 'infectious disease' 'sporotrichosis' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'sporotrichosis' SubClassOf 'infectious disease' 'sporotrichosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002041 http://www.ebi.ac.uk/efo/EFO_0007493 spondylolisthesis 'spondylolisthesis' SubClassOf 'bone disease' 'spondylolisthesis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000836 'spondylolisthesis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 'spondylolisthesis' SubClassOf 'bone disease' http://www.orpha.net/ORDO/Orphanet_261911 Partial deletion of the short arm of chromosome 7 'Partial deletion of the short arm of chromosome 7' SubClassOf 'Partial deletion of chromosome 7' 'Partial deletion of the short arm of chromosome 7' SubClassOf 'Partial deletion of chromosome 7' http://www.ebi.ac.uk/efo/EFO_0007499 streptococcal pneumonia 'streptococcal pneumonia' SubClassOf 'pneumonia' 'streptococcal pneumonia' SubClassOf 'bacterial pneumonia' 'streptococcal pneumonia' SubClassOf 'pneumococcal infection' 'streptococcal pneumonia' SubClassOf 'pneumonia' http://www.ebi.ac.uk/efo/EFO_0007498 Stiff-Person syndrome 'Stiff-Person syndrome' SubClassOf 'movement disorder' 'Stiff-Person syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015916 'Stiff-Person syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Stiff-Person syndrome' SubClassOf 'movement disorder' 'Stiff-Person syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015888 http://www.ebi.ac.uk/efo/EFO_0007497 staphyloenterotoxemia 'staphyloenterotoxemia' SubClassOf 'bacterial disease' 'staphyloenterotoxemia' SubClassOf 'bacterial disease' 'staphyloenterotoxemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000314 'staphyloenterotoxemia' SubClassOf 'staphylococcal skin infections' 'staphyloenterotoxemia' SubClassOf 'has_disease_location' some ('intestine' or ('part_of' some 'intestine')) http://www.orpha.net/ORDO/Orphanet_329195 Developmental delay with autism spectrum disorder and gait instability 'Developmental delay with autism spectrum disorder and gait instability' SubClassOf 'Rare disease with autism' 'Developmental delay with autism spectrum disorder and gait instability' SubClassOf 'Rare disease with autism' 'Developmental delay with autism spectrum disorder and gait instability' SubClassOf 'Autosomal recessive non-syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_247638 Prenatal benign hypophosphatasia 'Prenatal benign hypophosphatasia' SubClassOf 'Hypophosphatasia' 'Prenatal benign hypophosphatasia' SubClassOf 'Hypophosphatasia' http://www.orpha.net/ORDO/Orphanet_101150 Autosomal recessive dopa-responsive dystonia 'Autosomal recessive dopa-responsive dystonia' SubClassOf 'Disorder of pterin metabolism' 'Autosomal recessive dopa-responsive dystonia' SubClassOf 'Disorder of tyrosine metabolism' 'Autosomal recessive dopa-responsive dystonia' SubClassOf 'Dopa-responsive dystonia' 'Autosomal recessive dopa-responsive dystonia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100064 'Autosomal recessive dopa-responsive dystonia' SubClassOf 'Disorder of pterin metabolism' 'Autosomal recessive dopa-responsive dystonia' SubClassOf 'Dopa-responsive dystonia' 'Autosomal recessive dopa-responsive dystonia' SubClassOf 'Disorder of tyrosine metabolism' 'Autosomal recessive dopa-responsive dystonia' SubClassOf 'autosomal recessive disease' 'Autosomal recessive dopa-responsive dystonia' SubClassOf 'Cerebral organic aciduria' http://www.orpha.net/ORDO/Orphanet_306507 LAMB2-related infantile-onset nephrotic syndrome 'LAMB2-related infantile-onset nephrotic syndrome' SubClassOf 'Congenital and infantile nephrotic syndrome' 'LAMB2-related infantile-onset nephrotic syndrome' SubClassOf 'Congenital and infantile nephrotic syndrome' 'LAMB2-related infantile-onset nephrotic syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002350 http://purl.obolibrary.org/obo/CHEBI_24040 flavin adenine dinucleotide 'flavin adenine dinucleotide' SubClassOf 'chemical entity' 'flavin adenine dinucleotide' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/UBERON_0002031 epithelium of bronchus 'epithelium of bronchus' SubClassOf 'epithelium' 'epithelium of bronchus' SubClassOf 'part_of' some 'bronchus' 'epithelium of bronchus' SubClassOf http://purl.obolibrary.org/obo/UBERON_0004815 http://www.orpha.net/ORDO/Orphanet_307837 Focal palmoplantar keratoderma 'Focal palmoplantar keratoderma' SubClassOf 'Hereditary palmoplantar keratoderma' 'Focal palmoplantar keratoderma' SubClassOf 'Hereditary palmoplantar keratoderma' http://purl.obolibrary.org/obo/CHEBI_63632 topotecan 'topotecan' SubClassOf 'has_role' some 'antineoplastic agent' 'topotecan' SubClassOf 'has_role' some 'topoisomerase I inhibitor' http://purl.obolibrary.org/obo/UBERON_0002037 cerebellum 'cerebellum' SubClassOf 'part_of' some 'hindbrain' 'cerebellum' SubClassOf 'part_of' some 'brain' 'cerebellum' SubClassOf 'develops_from' some 'hindbrain' http://purl.obolibrary.org/obo/UBERON_0002038 substantia nigra 'substantia nigra' SubClassOf 'part_of' some 'basal ganglion' 'substantia nigra' SubClassOf 'part_of' some 'midbrain' http://www.orpha.net/ORDO/Orphanet_306504 Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome 'Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome' SubClassOf 'Basement membrane disease' 'Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome' SubClassOf 'Junctional epidermolysis bullosa' 'Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome' SubClassOf 'Basement membrane disease' 'Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome' SubClassOf 'Junctional epidermolysis bullosa' 'Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017016 http://purl.obolibrary.org/obo/UBERON_0002034 suprachiasmatic nucleus 'suprachiasmatic nucleus' SubClassOf 'part_of' some 'hypothalamus' 'suprachiasmatic nucleus' SubClassOf 'part_of' some 'preoptic area' http://www.orpha.net/ORDO/Orphanet_306519 Familial primary hypomagnesemia with hypocalcuria 'Familial primary hypomagnesemia with hypocalcuria' SubClassOf 'Familial primary hypomagnesemia' 'Familial primary hypomagnesemia with hypocalcuria' SubClassOf 'Familial primary hypomagnesemia' http://www.orpha.net/ORDO/Orphanet_306516 Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis 'Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis' SubClassOf 'Familial primary hypomagnesemia' 'Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis' SubClassOf 'Familial primary hypomagnesemia' http://purl.obolibrary.org/obo/UBERON_0002048 lung 'lung' SubClassOf 'develops_from' some 'primordium' 'lung' SubClassOf 'part_of' some 'respiratory system' 'lung' SubClassOf 'develops_from' some 'endoderm' http://www.orpha.net/ORDO/Orphanet_306511 Autosomal recessive spastic paraplegia type 48 'Autosomal recessive spastic paraplegia type 48' SubClassOf 'Pure or complex autosomal recessive spastic paraplegia' 'Autosomal recessive spastic paraplegia type 48' SubClassOf 'Neurometabolic disease' 'Autosomal recessive spastic paraplegia type 48' SubClassOf 'Lysosomal disease' 'Autosomal recessive spastic paraplegia type 48' SubClassOf 'Pure or complex autosomal recessive spastic paraplegia' http://purl.obolibrary.org/obo/UBERON_0002049 vasculature 'vasculature' SubClassOf 'composed primarily of' some 'vessel' 'vasculature' SubClassOf 'part_of' some 'cardiovascular system' http://purl.obolibrary.org/obo/UBERON_0002043 dorsal raphe nucleus 'dorsal raphe nucleus' SubClassOf 'part_of' some 'brainstem' 'dorsal raphe nucleus' SubClassOf 'part_of' some 'midbrain' 'dorsal raphe nucleus' SubClassOf 'develops_from' some 'midbrain basal plate' http://www.orpha.net/ORDO/Orphanet_307846 Isolated focal palmoplantar keratoderma 'Isolated focal palmoplantar keratoderma' SubClassOf 'Focal palmoplantar keratoderma' 'Isolated focal palmoplantar keratoderma' SubClassOf 'Focal palmoplantar keratoderma' 'Isolated focal palmoplantar keratoderma' EquivalentTo 'Focal palmoplantar keratoderma' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021128) 'Isolated focal palmoplantar keratoderma' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021128 http://purl.obolibrary.org/obo/UBERON_0002046 thyroid gland 'thyroid gland' SubClassOf 'gland' 'thyroid gland' SubClassOf 'develops_from' some 'primordium' 'thyroid gland' SubClassOf 'develops_from' some 'endoderm' 'thyroid gland' SubClassOf 'part_of' some 'endocrine system' 'thyroid gland' SubClassOf 'develops_from' some 'endocrine system' 'thyroid gland' SubClassOf 'develops_from' some 'pharyngeal pouch 2' 'thyroid gland' SubClassOf 'endocrine gland' http://purl.obolibrary.org/obo/CHEBI_36005 docosahexaenoic acid 'docosahexaenoic acid' SubClassOf 'fatty acid' 'docosahexaenoic acid' SubClassOf 'fatty acid' http://purl.obolibrary.org/obo/CHEBI_36006 icosapentaenoic acid 'icosapentaenoic acid' SubClassOf 'fatty acid' 'icosapentaenoic acid' SubClassOf 'fatty acid' http://purl.obolibrary.org/obo/UBERON_0002050 embryonic structure 'embryonic structure' SubClassOf 'part_of' some 'embryo' http://purl.obolibrary.org/obo/UBERON_0002051 epithelium of bronchiole 'epithelium of bronchiole' SubClassOf 'epithelium of bronchus' 'epithelium of bronchiole' SubClassOf 'part_of' some 'bronchiole' 'epithelium of bronchiole' SubClassOf http://purl.obolibrary.org/obo/UBERON_0003350 http://purl.obolibrary.org/obo/UBERON_0002058 ciliary ganglion 'ciliary ganglion' SubClassOf 'ganglion' 'ciliary ganglion' SubClassOf 'develops_from' some 'presumptive neural plate' 'ciliary ganglion' SubClassOf 'part_of' some 'parasympathetic nervous system' 'ciliary ganglion' SubClassOf http://purl.obolibrary.org/obo/UBERON_0035783 'ciliary ganglion' SubClassOf 'cranial ganglion' http://purl.obolibrary.org/obo/CHEBI_63613 nevirapine 'nevirapine' SubClassOf 'has_role' some 'antiviral' http://purl.obolibrary.org/obo/CHEBI_40992 N-acetyl-L-alanine 'N-acetyl-L-alanine' SubClassOf 'chemical entity' 'N-acetyl-L-alanine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_63609 mefloquine 'mefloquine' SubClassOf 'has_role' some 'antimalarial' http://purl.obolibrary.org/obo/BTO_0000849 melanoma cell line 'melanoma cell line' EquivalentTo 'cultured cell' and ('bearer_of' some 'melanoma') http://www.orpha.net/ORDO/Orphanet_164736 Familial advanced sleep-phase syndrome 'Familial advanced sleep-phase syndrome' SubClassOf 'Rare genetic neurological disorder' 'Familial advanced sleep-phase syndrome' SubClassOf 'Rare genetic neurological disorder' 'Familial advanced sleep-phase syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024361 http://purl.obolibrary.org/obo/HP_0006610 Wide intermamillary distance 'Wide intermamillary distance' SubClassOf 'abnormality of the breast' 'Wide intermamillary distance' SubClassOf 'abnormality of the breast' http://purl.obolibrary.org/obo/UBERON_0002060 femoral artery 'femoral artery' SubClassOf 'artery' 'femoral artery' SubClassOf http://purl.obolibrary.org/obo/UBERON_0004573 http://purl.obolibrary.org/obo/UBERON_0002066 umbilical vein 'umbilical vein' SubClassOf http://purl.obolibrary.org/obo/UBERON_0010260 http://purl.obolibrary.org/obo/UBERON_0002067 dermis 'dermis' SubClassOf 'part_of' some 'skin of body' 'dermis' SubClassOf 'develops_from' some 'mesoderm' http://purl.obolibrary.org/obo/UBERON_2001297 vagal placode 1 'vagal placode 1' SubClassOf 'zebrafish embryonic structure' 'vagal placode 1' SubClassOf 'epibranchial placode' http://purl.obolibrary.org/obo/UBERON_2001298 vagal placode 2 'vagal placode 2' SubClassOf 'zebrafish embryonic structure' 'vagal placode 2' SubClassOf 'epibranchial placode' http://purl.obolibrary.org/obo/UBERON_2001299 vagal placode 3 'vagal placode 3' SubClassOf 'zebrafish embryonic structure' 'vagal placode 3' SubClassOf 'epibranchial placode' http://purl.obolibrary.org/obo/CHEBI_27992 trans-4-hydroxy-D-proline 'trans-4-hydroxy-D-proline' SubClassOf 'amino acid' 'trans-4-hydroxy-D-proline' SubClassOf 'amino acid' http://www.orpha.net/ORDO/Orphanet_64755 Becker nevus syndrome 'Becker nevus syndrome' SubClassOf 'Genetic skin tumor' 'Becker nevus syndrome' SubClassOf 'Malformation syndrome with hamartosis' 'Becker nevus syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015853 'Becker nevus syndrome' SubClassOf 'Genetic skin tumor' 'Becker nevus syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000383 'Becker nevus syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000620 'Becker nevus syndrome' SubClassOf 'Malformation syndrome with hamartosis' 'Becker nevus syndrome' SubClassOf 'melanocytic nevus' 'Becker nevus syndrome' SubClassOf 'Genetic gynecological tumor' http://www.orpha.net/ORDO/Orphanet_63442 Angel-shaped phalango-epiphyseal dysplasia 'Angel-shaped phalango-epiphyseal dysplasia' SubClassOf 'Acromelic dysplasia' 'Angel-shaped phalango-epiphyseal dysplasia' SubClassOf 'Acromelic dysplasia' http://purl.obolibrary.org/obo/UBERON_2001280 branchiostegal ray 3 'branchiostegal ray 3' SubClassOf http://purl.obolibrary.org/obo/UBERON_2000476 http://www.orpha.net/ORDO/Orphanet_63440 Isolated oxycephaly 'Isolated oxycephaly' SubClassOf 'Isolated craniosynostosis' 'Isolated oxycephaly' SubClassOf 'Craniostenosis associated with a strabismus' 'Isolated oxycephaly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Isolated oxycephaly' SubClassOf 'Isolated craniosynostosis' 'Isolated oxycephaly' SubClassOf 'Rare genetic neurological disorder' 'Isolated oxycephaly' SubClassOf 'Craniostenosis associated with a strabismus' http://purl.obolibrary.org/obo/UBERON_2001281 branchiostegal ray 2 'branchiostegal ray 2' SubClassOf http://purl.obolibrary.org/obo/UBERON_2000476 http://purl.obolibrary.org/obo/UBERON_2001286 caudal vein plexus 'caudal vein plexus' SubClassOf http://purl.obolibrary.org/obo/UBERON_0010204 http://www.orpha.net/ORDO/Orphanet_307804 Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature 'Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature' SubClassOf 'Disease with diffuse palmoplantar keratoderma as a major feature' 'Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature' SubClassOf 'autosomal recessive disease' 'Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature' SubClassOf 'Disease with diffuse palmoplantar keratoderma as a major feature' http://purl.obolibrary.org/obo/UBERON_0002005 enteric nervous system 'enteric nervous system' SubClassOf 'part_of' some 'peripheral nervous system' 'enteric nervous system' SubClassOf 'develops_from' some 'presumptive neural plate' http://dbpedia.org/resource/Philippines Philippines 'Philippines' SubClassOf 'country' 'Philippines' SubClassOf 'country' http://purl.obolibrary.org/obo/UBERON_2001279 branchiostegal ray 1 'branchiostegal ray 1' SubClassOf http://purl.obolibrary.org/obo/UBERON_2000476 http://www.orpha.net/ORDO/Orphanet_64739 Ovarian hyperstimulation syndrome 'Ovarian hyperstimulation syndrome' SubClassOf 'ovarian disease' 'Ovarian hyperstimulation syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015875 'Ovarian hyperstimulation syndrome' SubClassOf 'ovarian disease' 'Ovarian hyperstimulation syndrome' SubClassOf 'has_disease_location' some 'female gonad' http://www.orpha.net/ORDO/Orphanet_64734 Iridocorneal endothelial syndrome 'Iridocorneal endothelial syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Iridocorneal endothelial syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Iridocorneal endothelial syndrome' SubClassOf 'disease has feature' some 'glaucoma' http://purl.obolibrary.org/obo/UBERON_0002012 pulmonary artery 'pulmonary artery' SubClassOf 'develops_from' some 'pharyngeal arch artery' 'pulmonary artery' SubClassOf http://purl.obolibrary.org/obo/UBERON_0013768 'pulmonary artery' SubClassOf 'develops_from' some 'heart' 'pulmonary artery' DisjointWith http://purl.obolibrary.org/obo/UBERON_0004573 http://www.orpha.net/ORDO/Orphanet_64752 Hereditary sensory and autonomic neuropathy type 5 'Hereditary sensory and autonomic neuropathy type 5' SubClassOf 'Autosomal recessive hereditary sensory and autonomic neuropathy' 'Hereditary sensory and autonomic neuropathy type 5' SubClassOf 'Autosomal recessive hereditary sensory and autonomic neuropathy' http://www.orpha.net/ORDO/Orphanet_64754 Nevus comedonicus syndrome 'Nevus comedonicus syndrome' SubClassOf 'Genetic skin tumor' 'Nevus comedonicus syndrome' SubClassOf 'melanocytic nevus' 'Nevus comedonicus syndrome' SubClassOf 'Genetic skin tumor' http://www.orpha.net/ORDO/Orphanet_64753 Spinocerebellar ataxia with axonal neuropathy type 2 'Spinocerebellar ataxia with axonal neuropathy type 2' SubClassOf 'Oculomotor apraxia or related oculomotor disease' 'Spinocerebellar ataxia with axonal neuropathy type 2' SubClassOf 'Genetic peripheral neuropathy' 'Spinocerebellar ataxia with axonal neuropathy type 2' SubClassOf 'Autosomal recessive cerebellar ataxia due to a DNA repair defect' 'Spinocerebellar ataxia with axonal neuropathy type 2' SubClassOf 'Oculomotor apraxia or related oculomotor disease' 'Spinocerebellar ataxia with axonal neuropathy type 2' SubClassOf 'Genetic peripheral neuropathy' 'Spinocerebellar ataxia with axonal neuropathy type 2' SubClassOf 'Autosomal recessive cerebellar ataxia due to a DNA repair defect' http://purl.obolibrary.org/obo/CHEBI_38637 tyrosine kinase inhibitor 'tyrosine kinase inhibitor' SubClassOf 'inheres_in' some 'chemical entity' http://www.orpha.net/ORDO/Orphanet_64749 Charcot-Marie-Tooth disease type 4 'Charcot-Marie-Tooth disease type 4' SubClassOf 'Charcot-Marie-Tooth disease' 'Charcot-Marie-Tooth disease type 4' SubClassOf 'Autosomal recessive hereditary demyelinating motor and sensory neuropathy' 'Charcot-Marie-Tooth disease type 4' SubClassOf 'Autosomal recessive hereditary demyelinating motor and sensory neuropathy' http://www.orpha.net/ORDO/Orphanet_64748 Dejerine-Sottas syndrome 'Dejerine-Sottas syndrome' SubClassOf 'Hereditary motor and sensory neuropathy' 'Dejerine-Sottas syndrome' SubClassOf 'Autosomal recessive hereditary demyelinating motor and sensory neuropathy' 'Dejerine-Sottas syndrome' SubClassOf 'Autosomal dominant hereditary demyelinating motor and sensory neuropathy' http://purl.obolibrary.org/obo/UBERON_0002028 hindbrain 'hindbrain' SubClassOf 'develops_from' some 'presumptive hindbrain' 'hindbrain' SubClassOf 'part_of' some 'brain' http://purl.obolibrary.org/obo/UBERON_0002021 occipital lobe 'occipital lobe' SubClassOf 'part_of' some 'cerebral cortex' http://www.orpha.net/ORDO/Orphanet_64747 X-linked Charcot-Marie-Tooth disease 'X-linked Charcot-Marie-Tooth disease' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked Charcot-Marie-Tooth disease' SubClassOf 'Charcot-Marie-Tooth disease' 'X-linked Charcot-Marie-Tooth disease' SubClassOf 'Syndromic genetic deafness' 'X-linked Charcot-Marie-Tooth disease' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked Charcot-Marie-Tooth disease' SubClassOf 'Charcot-Marie-Tooth disease' 'X-linked Charcot-Marie-Tooth disease' SubClassOf 'Syndromic genetic deafness' 'X-linked Charcot-Marie-Tooth disease' SubClassOf 'Hereditary motor and sensory neuropathy' http://www.orpha.net/ORDO/Orphanet_64746 Autosomal dominant Charcot-Marie-Tooth disease type 2 'Autosomal dominant Charcot-Marie-Tooth disease type 2' SubClassOf 'Charcot-Marie-Tooth disease' 'Autosomal dominant Charcot-Marie-Tooth disease type 2' SubClassOf 'Autosomal dominant hereditary axonal motor and sensory neuropathy' 'Autosomal dominant Charcot-Marie-Tooth disease type 2' SubClassOf 'Autosomal dominant hereditary axonal motor and sensory neuropathy' http://purl.obolibrary.org/obo/CLO_0014788 GM02783 'GM02783' SubClassOf 'has_quality' some 'male' 'GM02783' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM02783' SubClassOf 'cultured cell' http://www.orpha.net/ORDO/Orphanet_295243 Macrodactyly of toes, unilateral 'Macrodactyly of toes, unilateral' SubClassOf 'Macrodactyly of toes' 'Macrodactyly of toes, unilateral' SubClassOf 'Macrodactyly of toes' http://www.orpha.net/ORDO/Orphanet_295241 Macrodactyly of fingers, bilateral 'Macrodactyly of fingers, bilateral' SubClassOf 'Macrodactyly of fingers' 'Macrodactyly of fingers, bilateral' SubClassOf 'Macrodactyly of fingers' http://www.orpha.net/ORDO/Orphanet_99429 Complete androgen insensitivity syndrome 'Complete androgen insensitivity syndrome' SubClassOf 'Androgen insensitivity syndrome' 'Complete androgen insensitivity syndrome' SubClassOf 'Androgen insensitivity syndrome' http://www.orpha.net/ORDO/Orphanet_295245 Macrodactyly of toes, bilateral 'Macrodactyly of toes, bilateral' SubClassOf 'Macrodactyly of toes' 'Macrodactyly of toes, bilateral' SubClassOf 'Macrodactyly of toes' http://www.orpha.net/ORDO/Orphanet_295239 Macrodactyly of fingers, unilateral 'Macrodactyly of fingers, unilateral' SubClassOf 'Macrodactyly of fingers' 'Macrodactyly of fingers, unilateral' SubClassOf 'Macrodactyly of fingers' http://www.orpha.net/ORDO/Orphanet_329228 Microcephalic primordial dwarfism due to ZNF335 deficiency 'Microcephalic primordial dwarfism due to ZNF335 deficiency' SubClassOf 'Microcephalic primordial dwarfism' 'Microcephalic primordial dwarfism due to ZNF335 deficiency' SubClassOf 'Autosomal recessive primary microcephaly' 'Microcephalic primordial dwarfism due to ZNF335 deficiency' SubClassOf 'Microcephalic primordial dwarfism' http://purl.obolibrary.org/obo/CHEBI_3750 clofibrate 'clofibrate' SubClassOf ('has_role' some 'antilipemic drug') and ('has_role' some 'anticholesteremic drug') http://www.orpha.net/ORDO/Orphanet_329224 Intellectual disability - craniofacial dysmorphism - cryptorchidism 'Intellectual disability - craniofacial dysmorphism - cryptorchidism' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Intellectual disability - craniofacial dysmorphism - cryptorchidism' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Intellectual disability - craniofacial dysmorphism - cryptorchidism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Intellectual disability - craniofacial dysmorphism - cryptorchidism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Intellectual disability - craniofacial dysmorphism - cryptorchidism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 http://www.orpha.net/ORDO/Orphanet_306588 Autosomal dominant Opitz G/BBB syndrome 'Autosomal dominant Opitz G/BBB syndrome' SubClassOf 'Opitz G/BBB syndrome' 'Autosomal dominant Opitz G/BBB syndrome' SubClassOf 'Opitz G/BBB syndrome' 'Autosomal dominant Opitz G/BBB syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 http://www.orpha.net/ORDO/Orphanet_329211 Autosomal dominant neovascular inflammatory vitreoretinopathy 'Autosomal dominant neovascular inflammatory vitreoretinopathy' SubClassOf 'Vitreoretinal degeneration' 'Autosomal dominant neovascular inflammatory vitreoretinopathy' SubClassOf 'Vitreoretinal degeneration' http://www.orpha.net/ORDO/Orphanet_330206 Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome' 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015161 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome' 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0015161 and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) http://purl.obolibrary.org/obo/CHEBI_3766 clozapine 'clozapine' SubClassOf 'has_role' some 'adrenergic antagonist' 'clozapine' SubClassOf 'has_role' some 'histamine antagonist' 'clozapine' SubClassOf ('has_role' some 'antipsychotic drug') and ('has_role' some 'adrenergic antagonist') and ('has_role' some 'histamine antagonist') and ('has_role' some 'serotonergic antagonist') and ('has_role' some 'dopaminergic antagonist') and ('has_role' some 'muscarinic antagonist') 'clozapine' SubClassOf 'has_role' some 'serotonergic antagonist' 'clozapine' SubClassOf 'has_role' some 'dopaminergic antagonist' 'clozapine' SubClassOf 'has_role' some 'antipsychotic drug' 'clozapine' SubClassOf 'has_role' some 'muscarinic antagonist' http://purl.obolibrary.org/obo/CHEBI_3764 clotrimazole 'clotrimazole' SubClassOf 'has_role' some 'fungicide' http://www.orpha.net/ORDO/Orphanet_306597 X-linked Opitz G/BBB syndrome 'X-linked Opitz G/BBB syndrome' SubClassOf 'Opitz G/BBB syndrome' 'X-linked Opitz G/BBB syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000425 'X-linked Opitz G/BBB syndrome' SubClassOf 'Opitz G/BBB syndrome' http://www.orpha.net/ORDO/Orphanet_63454 Patterned dystrophy of the retinal pigment epithelium 'Patterned dystrophy of the retinal pigment epithelium' SubClassOf 'Genetic macular dystrophy' 'Patterned dystrophy of the retinal pigment epithelium' SubClassOf 'Genetic macular dystrophy' http://www.orpha.net/ORDO/Orphanet_98127 Autosomal anomaly 'Autosomal anomaly' SubClassOf 'Chromosomal anomaly' 'Autosomal anomaly' SubClassOf 'Chromosomal anomaly' http://www.orpha.net/ORDO/Orphanet_63446 Acrocapitofemoral dysplasia 'Acrocapitofemoral dysplasia' SubClassOf 'Acromelic dysplasia' 'Acrocapitofemoral dysplasia' SubClassOf 'Acromelic dysplasia' 'Acrocapitofemoral dysplasia' SubClassOf 'osteochondrodysplasia' http://www.orpha.net/ORDO/Orphanet_98132 Partial autosomal trisomy/tetrasomy 'Partial autosomal trisomy/tetrasomy' SubClassOf 'Autosomal trisomy' 'Partial autosomal trisomy/tetrasomy' SubClassOf 'Autosomal trisomy' http://purl.obolibrary.org/obo/CHEBI_2453 acyclovir 'acyclovir' SubClassOf 'has_role' some 'drug role' http://www.orpha.net/ORDO/Orphanet_306577 Sodium channelopathy-related small fiber neuropathy 'Sodium channelopathy-related small fiber neuropathy' SubClassOf 'Genetic peripheral neuropathy' 'Sodium channelopathy-related small fiber neuropathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021016 'Sodium channelopathy-related small fiber neuropathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 'Sodium channelopathy-related small fiber neuropathy' SubClassOf 'Genetic peripheral neuropathy' http://purl.obolibrary.org/obo/NCBITaxon_72740 Sporisorium reilianum f. sp. zeae 'Sporisorium reilianum f. sp. zeae' SubClassOf 'Fungi' 'Sporisorium reilianum f. sp. zeae' SubClassOf 'Fungi' http://www.orpha.net/ORDO/Orphanet_98131 Total autosomal trisomy 'Total autosomal trisomy' SubClassOf 'Autosomal trisomy' 'Total autosomal trisomy' SubClassOf 'Autosomal trisomy' http://www.orpha.net/ORDO/Orphanet_98130 Autosomal trisomy 'Autosomal trisomy' SubClassOf 'Autosomal anomaly' 'Autosomal trisomy' SubClassOf 'Autosomal anomaly' http://www.orpha.net/ORDO/Orphanet_307871 Disease with focal palmoplantar keratoderma as a major feature 'Disease with focal palmoplantar keratoderma as a major feature' SubClassOf 'Focal palmoplantar keratoderma' 'Disease with focal palmoplantar keratoderma as a major feature' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Focal palmoplantar keratoderma' 'Disease with focal palmoplantar keratoderma as a major feature' SubClassOf 'Focal palmoplantar keratoderma' 'Disease with focal palmoplantar keratoderma as a major feature' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Focal palmoplantar keratoderma') http://www.orpha.net/ORDO/Orphanet_295203 Congenital vertical talus, bilateral 'Congenital vertical talus, bilateral' SubClassOf 'Congenital vertical talus' 'Congenital vertical talus, bilateral' SubClassOf 'Congenital vertical talus' http://www.orpha.net/ORDO/Orphanet_295201 Congenital vertical talus, unilateral 'Congenital vertical talus, unilateral' SubClassOf 'Congenital vertical talus' 'Congenital vertical talus, unilateral' SubClassOf 'Congenital vertical talus' http://purl.obolibrary.org/obo/UBERON_0002073 hair follicle 'hair follicle' SubClassOf 'develops_from' some 'primordium' 'hair follicle' SubClassOf 'develops_from' some 'epidermis' 'hair follicle' SubClassOf 'part_of' some 'epidermis' http://www.orpha.net/ORDO/Orphanet_306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome 'Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome' SubClassOf 'Orofacial clefting syndrome' 'Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome' SubClassOf 'Frontonasal dysplasia' 'Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome' SubClassOf 'Orofacial clefting syndrome' 'Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome' SubClassOf 'Frontonasal dysplasia' 'Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 http://www.orpha.net/ORDO/Orphanet_306547 Porencephaly-microcephaly-bilateral congenital cataract syndrome 'Porencephaly-microcephaly-bilateral congenital cataract syndrome' SubClassOf 'Genetic syndrome with a central nervous system malformation as major feature' 'Porencephaly-microcephaly-bilateral congenital cataract syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017120 'Porencephaly-microcephaly-bilateral congenital cataract syndrome' SubClassOf 'Rare genetic neurological disorder' http://purl.obolibrary.org/obo/UBERON_0002078 right atrium 'right atrium' SubClassOf 'heart component' 'right atrium' SubClassOf 'cardiac atrium' 'right atrium' SubClassOf 'part_of' some 'heart' http://purl.obolibrary.org/obo/UBERON_0002079 left cardiac atrium 'left cardiac atrium' SubClassOf 'cardiac atrium' 'left cardiac atrium' SubClassOf 'cardiac atrium' http://www.orpha.net/ORDO/Orphanet_306550 FADD-related immunodeficiency 'FADD-related immunodeficiency' SubClassOf 'Immunodeficiency syndrome with autoimmunity' 'FADD-related immunodeficiency' SubClassOf 'Immunodeficiency syndrome with autoimmunity' http://www.orpha.net/ORDO/Orphanet_295211 Humero-radial synostosis, bilateral 'Humero-radial synostosis, bilateral' SubClassOf 'Humero-radial synostosis' 'Humero-radial synostosis, bilateral' SubClassOf 'Humero-radial synostosis' http://www.orpha.net/ORDO/Orphanet_295215 Humero-ulnar synostosis, bilateral 'Humero-ulnar synostosis, bilateral' SubClassOf 'Humero-ulnar synostosis' 'Humero-ulnar synostosis, bilateral' SubClassOf 'Humero-ulnar synostosis' http://www.orpha.net/ORDO/Orphanet_295213 Humero-ulnar synostosis, unilateral 'Humero-ulnar synostosis, unilateral' SubClassOf 'Humero-ulnar synostosis' 'Humero-ulnar synostosis, unilateral' SubClassOf 'Humero-ulnar synostosis' http://www.orpha.net/ORDO/Orphanet_75497 X-linked Ehlers-Danlos syndrome 'X-linked Ehlers-Danlos syndrome' SubClassOf 'Ehlers-Danlos syndrome' 'X-linked Ehlers-Danlos syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000425 'X-linked Ehlers-Danlos syndrome' SubClassOf 'Ehlers-Danlos syndrome' http://www.orpha.net/ORDO/Orphanet_295207 Humero-radio-ulnar synostosis, bilateral 'Humero-radio-ulnar synostosis, bilateral' SubClassOf 'Humero-radio-ulnar synostosis' 'Humero-radio-ulnar synostosis, bilateral' SubClassOf 'Humero-radio-ulnar synostosis' http://www.orpha.net/ORDO/Orphanet_75496 Ehlers-Danlos syndrome, progeroid type 'Ehlers-Danlos syndrome, progeroid type' SubClassOf 'Primary bone dysplasia with decreased bone density' 'Ehlers-Danlos syndrome, progeroid type' SubClassOf 'Congenital disorder of glycosylation with skin involvement' 'Ehlers-Danlos syndrome, progeroid type' SubClassOf 'Disorder of O-xylosylglycan synthesis' 'Ehlers-Danlos syndrome, progeroid type' SubClassOf 'Congenital disorder of glycosylation-related bone disorder' 'Ehlers-Danlos syndrome, progeroid type' SubClassOf 'Ehlers-Danlos syndrome' 'Ehlers-Danlos syndrome, progeroid type' SubClassOf 'Congenital disorder of glycosylation with skin involvement' 'Ehlers-Danlos syndrome, progeroid type' SubClassOf 'Primary bone dysplasia with decreased bone density' 'Ehlers-Danlos syndrome, progeroid type' SubClassOf 'Disorder of O-xylosylglycan synthesis' 'Ehlers-Danlos syndrome, progeroid type' SubClassOf 'Congenital disorder of glycosylation-related bone disorder' 'Ehlers-Danlos syndrome, progeroid type' SubClassOf 'Ehlers-Danlos syndrome' http://purl.obolibrary.org/obo/CHEBI_3723 citalopram 'citalopram' SubClassOf 'has_role' some 'antidepressant' http://www.orpha.net/ORDO/Orphanet_295205 Humero-radio-ulnar synostosis, unilateral 'Humero-radio-ulnar synostosis, unilateral' SubClassOf 'Humero-radio-ulnar synostosis' 'Humero-radio-ulnar synostosis, unilateral' SubClassOf 'Humero-radio-ulnar synostosis' http://purl.obolibrary.org/obo/UBERON_0002081 cardiac atrium 'cardiac atrium' SubClassOf 'part_of' some 'heart' http://purl.obolibrary.org/obo/UBERON_0002082 cardiac ventricle 'cardiac ventricle' SubClassOf 'part_of' some 'heart' http://www.orpha.net/ORDO/Orphanet_295209 Humero-radial synostosis, unilateral 'Humero-radial synostosis, unilateral' SubClassOf 'Humero-radial synostosis' 'Humero-radial synostosis, unilateral' SubClassOf 'Humero-radial synostosis' http://www.orpha.net/ORDO/Orphanet_306558 Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome 'Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome' SubClassOf 'Cerebral malformation with epilepsy' 'Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome' SubClassOf 'Syndrome with microcephaly as major feature' 'Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome' SubClassOf 'Inborn errors of metabolism' 'Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015888 'Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome' SubClassOf 'Cerebral malformation with epilepsy' 'Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome' SubClassOf 'Syndrome with microcephaly as major feature' 'Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome' SubClassOf 'Developmental anomaly of metabolic origin' http://purl.obolibrary.org/obo/CHEBI_26711 sodium cholate 'sodium cholate' SubClassOf 'has_role' some 'personality trait' http://www.orpha.net/ORDO/Orphanet_295221 Madelung deformity, unilateral 'Madelung deformity, unilateral' SubClassOf 'Madelung deformity' 'Madelung deformity, unilateral' SubClassOf 'Madelung deformity' http://www.orpha.net/ORDO/Orphanet_295225 Congenital elbow dislocation, unilateral 'Congenital elbow dislocation, unilateral' SubClassOf 'Congenital elbow dislocation' 'Congenital elbow dislocation, unilateral' SubClassOf 'Congenital elbow dislocation' http://www.orpha.net/ORDO/Orphanet_295223 Madelung deformity, bilateral 'Madelung deformity, bilateral' SubClassOf 'Madelung deformity' 'Madelung deformity, bilateral' SubClassOf 'Madelung deformity' http://www.orpha.net/ORDO/Orphanet_295219 Radio-ulnar synostosis, bilateral 'Radio-ulnar synostosis, bilateral' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017985 http://www.orpha.net/ORDO/Orphanet_295217 Radio-ulnar synostosis, unilateral 'Radio-ulnar synostosis, unilateral' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017985 http://www.orpha.net/ORDO/Orphanet_306527 Isolated hereditary congenital facial paralysis 'Isolated hereditary congenital facial paralysis' SubClassOf 'Paralytic facial malformation' 'Isolated hereditary congenital facial paralysis' SubClassOf 'Cranial nerve and nuclear aplasia' 'Isolated hereditary congenital facial paralysis' SubClassOf 'Paralytic facial malformation' 'Isolated hereditary congenital facial paralysis' SubClassOf 'Cranial nerve and nuclear aplasia' http://purl.obolibrary.org/obo/UBERON_0002097 skin of body 'skin of body' SubClassOf 'part_of' some 'integumental system' 'skin of body' SubClassOf 'develops_from' some 'ectoderm' 'skin of body' SubClassOf 'develops_from' some 'integumental system' http://purl.obolibrary.org/obo/UBERON_0002090 postcranial axial skeleton 'postcranial axial skeleton' SubClassOf 'part_of' some 'skeletal system' 'postcranial axial skeleton' SubClassOf 'part_of' some 'skeleton' 'postcranial axial skeleton' SubClassOf 'develops_from' some 'presomitic mesoderm' 'postcranial axial skeleton' EquivalentTo 'part_of' some 'postcranial axial skeleton' http://www.orpha.net/ORDO/Orphanet_99413 Turner syndrome due to structural X chromosome anomalies 'Turner syndrome due to structural X chromosome anomalies' SubClassOf 'Turner syndrome' 'Turner syndrome due to structural X chromosome anomalies' SubClassOf 'Turner syndrome' http://purl.obolibrary.org/obo/UBERON_0002091 appendicular skeleton 'appendicular skeleton' SubClassOf 'part_of' some 'skeletal system' 'appendicular skeleton' SubClassOf 'part_of' some 'skeleton' http://www.orpha.net/ORDO/Orphanet_306522 Familial primary hypomagnesemia with normocalcuria 'Familial primary hypomagnesemia with normocalcuria' SubClassOf 'Familial primary hypomagnesemia' 'Familial primary hypomagnesemia with normocalcuria' SubClassOf 'Familial primary hypomagnesemia' http://www.orpha.net/ORDO/Orphanet_295232 Congenital genu flexum 'Congenital genu flexum' SubClassOf 'Congenital knee dislocation' 'Congenital genu flexum' SubClassOf 'Congenital knee dislocation' http://www.orpha.net/ORDO/Orphanet_295237 Congenital patella dislocation, bilateral 'Congenital patella dislocation, bilateral' SubClassOf 'Congenital patella dislocation' 'Congenital patella dislocation, bilateral' SubClassOf 'Congenital patella dislocation' http://www.orpha.net/ORDO/Orphanet_295234 Congenital patella dislocation, unilateral 'Congenital patella dislocation, unilateral' SubClassOf 'Congenital patella dislocation' 'Congenital patella dislocation, unilateral' SubClassOf 'Congenital patella dislocation' http://www.orpha.net/ORDO/Orphanet_295229 Congenital genu recurvatum 'Congenital genu recurvatum' SubClassOf 'Congenital knee dislocation' 'Congenital genu recurvatum' SubClassOf 'Congenital knee dislocation' http://purl.obolibrary.org/obo/CHEBI_3745 clindamycin 'clindamycin' SubClassOf 'has_role' some 'antimicrobial agent' http://www.orpha.net/ORDO/Orphanet_306539 Hereditary acrokeratotic poikiloderma of Kindler-Weary 'Hereditary acrokeratotic poikiloderma of Kindler-Weary' SubClassOf 'Genetic photodermatosis' 'Hereditary acrokeratotic poikiloderma of Kindler-Weary' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019304 'Hereditary acrokeratotic poikiloderma of Kindler-Weary' SubClassOf 'Genetic photodermatosis' http://www.orpha.net/ORDO/Orphanet_295227 Congenital elbow dislocation, bilateral 'Congenital elbow dislocation, bilateral' SubClassOf 'Congenital elbow dislocation' 'Congenital elbow dislocation, bilateral' SubClassOf 'Congenital elbow dislocation' http://www.orpha.net/ORDO/Orphanet_306530 Congenital hereditary facial paralysis with variable hearing loss 'Congenital hereditary facial paralysis with variable hearing loss' SubClassOf 'Cranial nerve and nuclear aplasia' 'Congenital hereditary facial paralysis with variable hearing loss' SubClassOf 'Paralytic facial malformation' 'Congenital hereditary facial paralysis with variable hearing loss' SubClassOf 'Cranial nerve and nuclear aplasia' 'Congenital hereditary facial paralysis with variable hearing loss' SubClassOf 'Paralytic facial malformation' http://purl.obolibrary.org/obo/CLO_0026789 GM15385 'GM15385' SubClassOf 'cultured cell' 'GM15385' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/CLO_0026786 GM15386 'GM15386' SubClassOf 'cultured cell' 'GM15386' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://www.orpha.net/ORDO/Orphanet_261866 Partial deletion of the short arm of chromosome 2 'Partial deletion of the short arm of chromosome 2' SubClassOf 'Partial deletion of chromosome 2' 'Partial deletion of the short arm of chromosome 2' SubClassOf 'Partial deletion of chromosome 2' http://www.orpha.net/ORDO/Orphanet_261857 Partial deletion of the short arm of chromosome 1 'Partial deletion of the short arm of chromosome 1' SubClassOf 'Partial deletion of chromosome 1' 'Partial deletion of the short arm of chromosome 1' SubClassOf 'Partial deletion of chromosome 1' http://purl.obolibrary.org/obo/CHEBI_474180 caspofungin 'caspofungin' SubClassOf 'has_role' some 'fungicide' http://www.orpha.net/ORDO/Orphanet_247573 Adult-onset citrullinemia type I 'Adult-onset citrullinemia type I' SubClassOf 'Citrullinemia type I' 'Adult-onset citrullinemia type I' SubClassOf 'Citrullinemia type I' http://www.orpha.net/ORDO/Orphanet_98196 Malformation syndrome with hamartosis 'Malformation syndrome with hamartosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019755 'Malformation syndrome with hamartosis' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://www.ebi.ac.uk/efo/EFO_0008710 Digital RNA 'Digital RNA' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.orpha.net/ORDO/Orphanet_261846 Partial deletion of chromosome 20 'Partial deletion of chromosome 20' SubClassOf 'Partial autosomal monosomy' 'Partial deletion of chromosome 20' SubClassOf 'Partial autosomal monosomy' http://www.ebi.ac.uk/efo/EFO_0008715 Dnase I SIM 'Dnase I SIM' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008716 DNase-Seq 'DNase-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008717 DNaseI-Seq 'DNaseI-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008718 DP-Seq 'DP-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008711 DIP-seq 'DIP-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008712 DLAF 'DLAF' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008713 DMS-MapSeq 'DMS-MapSeq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008714 DMS-Seq 'DMS-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008719 dRNA-Seq 'dRNA-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.orpha.net/ORDO/Orphanet_247546 Acute neonatal citrullinemia type I 'Acute neonatal citrullinemia type I' SubClassOf 'Citrullinemia type I' 'Acute neonatal citrullinemia type I' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020683 'Acute neonatal citrullinemia type I' SubClassOf 'Citrullinemia type I' http://purl.obolibrary.org/obo/CHEBI_88956 Pyro-L-glutaminyl-L-glutamine 'Pyro-L-glutaminyl-L-glutamine' SubClassOf 'chemical entity' 'Pyro-L-glutaminyl-L-glutamine' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_261836 Partial deletion of chromosome 18 'Partial deletion of chromosome 18' SubClassOf 'Partial autosomal monosomy' 'Partial deletion of chromosome 18' SubClassOf 'Partial autosomal monosomy' http://www.orpha.net/ORDO/Orphanet_261831 Partial deletion of chromosome 17 'Partial deletion of chromosome 17' SubClassOf 'Partial autosomal monosomy' 'Partial deletion of chromosome 17' SubClassOf 'Partial autosomal monosomy' http://www.ebi.ac.uk/efo/EFO_0008704 DamID 'DamID' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008705 DAP-seq 'DAP-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008706 DArTSeq 'DArTSeq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008707 ddRADseq 'ddRADseq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008700 CREST-seq 'CREST-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008701 CROP-Seq 'CROP-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008702 CrY2H-seq 'CrY2H-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008703 CytoSeq 'CytoSeq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008708 DeepCAGE 'DeepCAGE' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008709 Digenome-seq 'Digenome-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.orpha.net/ORDO/Orphanet_261841 Partial deletion of chromosome 19 'Partial deletion of chromosome 19' SubClassOf 'Partial autosomal monosomy' 'Partial deletion of chromosome 19' SubClassOf 'Partial autosomal monosomy' http://www.ebi.ac.uk/efo/EFO_0008730 EnIGMA 'EnIGMA' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008731 EPIG-Seq 'EPIG-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008732 epiGBS 'epiGBS' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0007401 oligohydramnios 'oligohydramnios' SubClassOf 'placenta disease' 'oligohydramnios' SubClassOf 'placenta disease' http://www.ebi.ac.uk/efo/EFO_0007400 oesophagostomiasis 'oesophagostomiasis' SubClassOf 'parasitic infection' 'oesophagostomiasis' SubClassOf 'Strongylida infectious disease' 'oesophagostomiasis' SubClassOf 'parasitic infection' 'oesophagostomiasis' SubClassOf 'has_disease_location' some ('intestine' or ('part_of' some 'intestine')) http://www.ebi.ac.uk/efo/EFO_0007405 optic neuritis 'optic neuritis' SubClassOf 'eye disease' 'optic neuritis' SubClassOf 'encephalomyelitis' 'optic neuritis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002135 'optic neuritis' SubClassOf 'has_disease_location' some ('optic nerve' or ('part_of' some 'optic nerve')) 'optic neuritis' SubClassOf 'eye disease' http://www.ebi.ac.uk/efo/EFO_0008737 FAST-iCLIP 'FAST-iCLIP' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0007404 opisthorchiasis 'opisthorchiasis' SubClassOf 'parasitic infection' 'opisthorchiasis' SubClassOf 'parasitic infection' 'opisthorchiasis' SubClassOf 'Helminthiasis' http://www.ebi.ac.uk/efo/EFO_0008738 FAST-SeqS 'FAST-SeqS' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0007403 ophthalmic herpes zoster 'ophthalmic herpes zoster' SubClassOf 'Herpes Zoster' 'ophthalmic herpes zoster' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020010 'ophthalmic herpes zoster' SubClassOf 'Herpes Zoster' http://www.ebi.ac.uk/efo/EFO_0008739 fC-CET 'fC-CET' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0007402 onchocerciasis 'onchocerciasis' SubClassOf 'skin disease' 'onchocerciasis' SubClassOf 'skin disease' 'onchocerciasis' SubClassOf 'Nematoda infectious disease' 'onchocerciasis' SubClassOf 'disease has feature' some http://purl.obolibrary.org/obo/MONDO_0001941 'onchocerciasis' SubClassOf 'disease has feature' some 'exanthem' 'onchocerciasis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016075 http://www.ebi.ac.uk/efo/EFO_0007409 ornithine carbamoyltransferase deficiency 'ornithine carbamoyltransferase deficiency' SubClassOf 'urogenital tuberculosis' 'ornithine carbamoyltransferase deficiency' SubClassOf 'Syndromic neurometabolic disease with X-linked intellectual disability' 'ornithine carbamoyltransferase deficiency' SubClassOf 'has_disease_location' some ('genitourinary system' or ('part_of' some 'genitourinary system')) 'ornithine carbamoyltransferase deficiency' SubClassOf 'Cerebral organic aciduria' 'ornithine carbamoyltransferase deficiency' SubClassOf 'Disorder of urea cycle metabolism and ammonia detoxification' 'ornithine carbamoyltransferase deficiency' SubClassOf 'urogenital tuberculosis' 'ornithine carbamoyltransferase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004739 http://www.ebi.ac.uk/efo/EFO_0008733 eWGA 'eWGA' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0007408 orbital cancer 'orbital cancer' SubClassOf 'bone neoplasm' 'orbital cancer' SubClassOf 'bone neoplasm' http://www.ebi.ac.uk/efo/EFO_0008734 ezRAD 'ezRAD' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0007407 oral tuberculosis 'oral tuberculosis' SubClassOf 'gastrointestinal tuberculosis' 'oral tuberculosis' SubClassOf 'has_disease_location' some ('mouth' or ('part_of' some 'mouth')) 'oral tuberculosis' SubClassOf 'gastrointestinal tuberculosis' 'oral tuberculosis' SubClassOf 'mouth disease' http://www.ebi.ac.uk/efo/EFO_0008735 FACS-seq 'FACS-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://purl.obolibrary.org/obo/NCBITaxon_1480153 Marchantia polymorpha subsp. polymorpha 'Marchantia polymorpha subsp. polymorpha' SubClassOf 'Viridiplantae' 'Marchantia polymorpha subsp. polymorpha' SubClassOf 'Viridiplantae' http://www.ebi.ac.uk/efo/EFO_0007406 oral candidiasis 'oral candidiasis' SubClassOf 'infectious disease' 'oral candidiasis' SubClassOf 'mouth disease' 'oral candidiasis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043424 'oral candidiasis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002026 'oral candidiasis' SubClassOf 'infectious disease' http://www.orpha.net/ORDO/Orphanet_98142 Partial autosomal monosomy 'Partial autosomal monosomy' SubClassOf 'Autosomal monosomy' 'Partial autosomal monosomy' SubClassOf 'Autosomal monosomy' http://purl.obolibrary.org/obo/FBbt_00004914 female accessory gland 'female accessory gland' SubClassOf 'part_of' some 'female reproductive system' http://www.orpha.net/ORDO/Orphanet_98141 Total autosomal monosomy 'Total autosomal monosomy' SubClassOf 'Autosomal monosomy' 'Total autosomal monosomy' SubClassOf 'Autosomal monosomy' http://www.ebi.ac.uk/efo/EFO_0008720 DroNc-Seq 'DroNc-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://purl.obolibrary.org/obo/CHEBI_73018 tiglylglycine 'tiglylglycine' SubClassOf 'chemical entity' 'tiglylglycine' SubClassOf 'chemical entity' http://www.ebi.ac.uk/efo/EFO_0008721 Drop-ChIP 'Drop-ChIP' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://purl.obolibrary.org/obo/CHEBI_73017 O-isobutyrylcarnitine 'O-isobutyrylcarnitine' SubClassOf 'chemical entity' 'O-isobutyrylcarnitine' SubClassOf 'chemical entity' http://www.ebi.ac.uk/efo/EFO_0008726 dsRNA-Seq 'dsRNA-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.orpha.net/ORDO/Orphanet_329255 Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency 'Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency' SubClassOf 'Blepharophimosis-intellectual disability syndrome' 'Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency' SubClassOf 'Blepharophimosis-intellectual disability syndrome' http://www.ebi.ac.uk/efo/EFO_0008727 Duplex-Seq 'Duplex-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008728 EC-seq 'EC-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://purl.obolibrary.org/obo/CHEBI_74348 1-[(4Z,7Z,10Z,13Z,16Z)-docosapentaenoyl]-sn-glycero-3-phosphocholine '1-[(4Z,7Z,10Z,13Z,16Z)-docosapentaenoyl]-sn-glycero-3-phosphocholine' SubClassOf 'phospholipid' '1-[(4Z,7Z,10Z,13Z,16Z)-docosapentaenoyl]-sn-glycero-3-phosphocholine' SubClassOf 'phospholipid' http://www.ebi.ac.uk/efo/EFO_0008729 END-seq 'END-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.orpha.net/ORDO/Orphanet_329252 Spondylocostal dysostosis - hypospadias - intellectual disability 'Spondylocostal dysostosis - hypospadias - intellectual disability' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Spondylocostal dysostosis - hypospadias - intellectual disability' SubClassOf 'Dysostosis with predominant vertebral and costal involvement' 'Spondylocostal dysostosis - hypospadias - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Spondylocostal dysostosis - hypospadias - intellectual disability' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Spondylocostal dysostosis - hypospadias - intellectual disability' SubClassOf 'Dysostosis with predominant vertebral and costal involvement' 'Spondylocostal dysostosis - hypospadias - intellectual disability' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 http://www.ebi.ac.uk/efo/EFO_0008722 Drop-Seq 'Drop-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008723 Droplet-CirSeq 'Droplet-CirSeq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008724 DSB-seq 'DSB-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008725 DSBCapture 'DSBCapture' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.orpha.net/ORDO/Orphanet_98155 Gonosome anomaly 'Gonosome anomaly' SubClassOf 'Chromosomal anomaly' 'Gonosome anomaly' SubClassOf 'Chromosomal anomaly' http://www.orpha.net/ORDO/Orphanet_98154 Uniparental disomy of paternal origin 'Uniparental disomy of paternal origin' SubClassOf 'Autosomal uniparental disomy' 'Uniparental disomy of paternal origin' SubClassOf 'Autosomal uniparental disomy' http://www.orpha.net/ORDO/Orphanet_98157 Gonosome structural anomaly 'Gonosome structural anomaly' SubClassOf 'Gonosome anomaly' 'Gonosome structural anomaly' SubClassOf 'Gonosome anomaly' http://www.orpha.net/ORDO/Orphanet_98156 Gonosome number anomaly 'Gonosome number anomaly' SubClassOf 'Gonosome anomaly' 'Gonosome number anomaly' SubClassOf 'Gonosome anomaly' http://www.orpha.net/ORDO/Orphanet_98159 Chromosome X structural anomaly 'Chromosome X structural anomaly' SubClassOf 'Gonosome structural anomaly' 'Chromosome X structural anomaly' SubClassOf 'Gonosome structural anomaly' http://www.orpha.net/ORDO/Orphanet_98158 Chromosome Y structural anomaly 'Chromosome Y structural anomaly' SubClassOf 'Gonosome structural anomaly' 'Chromosome Y structural anomaly' SubClassOf 'Gonosome structural anomaly' http://www.orpha.net/ORDO/Orphanet_329258 Autosomal dominant Charcot-Marie-Tooth disease type 2Q 'Autosomal dominant Charcot-Marie-Tooth disease type 2Q' SubClassOf 'Autosomal dominant Charcot-Marie-Tooth disease type 2' 'Autosomal dominant Charcot-Marie-Tooth disease type 2Q' SubClassOf 'Autosomal dominant Charcot-Marie-Tooth disease type 2' http://purl.obolibrary.org/obo/CHEBI_73024 O-acetylcarnitine 'O-acetylcarnitine' SubClassOf 'chemical entity' 'O-acetylcarnitine' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/NCBITaxon_33154 Opisthokonta 'Opisthokonta' SubClassOf 'Eukaryota' 'Opisthokonta' SubClassOf 'Eukaryota' http://www.orpha.net/ORDO/Orphanet_98153 Uniparental disomy of maternal origin 'Uniparental disomy of maternal origin' SubClassOf 'Autosomal uniparental disomy' 'Uniparental disomy of maternal origin' SubClassOf 'Autosomal uniparental disomy' http://www.orpha.net/ORDO/Orphanet_98152 Autosomal uniparental disomy 'Autosomal uniparental disomy' SubClassOf 'Autosomal anomaly' 'Autosomal uniparental disomy' SubClassOf 'Autosomal anomaly' http://www.ebi.ac.uk/efo/EFO_0008751 G4-seq 'G4-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008752 GMUCT 1.0 'GMUCT 1.0' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008753 GMUCT 2.0 'GMUCT 2.0' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008754 GRIL-seq 'GRIL-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0007423 parotitis 'parotitis' SubClassOf 'parotid disease' 'parotitis' SubClassOf 'participates_in' some 'inflammatory response' 'parotitis' SubClassOf 'parotid disease' 'parotitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021166 http://www.ebi.ac.uk/efo/EFO_0007422 parotid disease 'parotid disease' SubClassOf 'salivary gland disease' 'parotid disease' SubClassOf 'has_disease_location' some ('parotid gland' or ('part_of' some 'parotid gland')) 'parotid disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044987 'parotid disease' SubClassOf 'salivary gland disease' http://purl.obolibrary.org/obo/CHEBI_73026 2-methylbutyrylcarnitine '2-methylbutyrylcarnitine' SubClassOf 'chemical entity' '2-methylbutyrylcarnitine' SubClassOf 'chemical entity' http://www.ebi.ac.uk/efo/EFO_0007421 paronychia 'paronychia' SubClassOf 'skin disease' 'paronychia' SubClassOf 'skin disease' 'paronychia' SubClassOf 'has_disease_location' some ('nail' or ('part_of' some 'nail')) 'paronychia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002884 http://purl.obolibrary.org/obo/CHEBI_73025 O-isovalerylcarnitine 'O-isovalerylcarnitine' SubClassOf 'chemical entity' 'O-isovalerylcarnitine' SubClassOf 'chemical entity' http://www.ebi.ac.uk/efo/EFO_0007420 paratyphoid fever 'paratyphoid fever' SubClassOf 'bacterial disease' 'paratyphoid fever' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019331 'paratyphoid fever' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000314 'paratyphoid fever' SubClassOf 'has_disease_location' some ('intestine' or ('part_of' some 'intestine')) 'paratyphoid fever' SubClassOf 'bacterial disease' http://www.ebi.ac.uk/efo/EFO_0008750 G4 ChIP-seq 'G4 ChIP-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0007427 pericarditis 'pericarditis' SubClassOf 'heart disease' 'pericarditis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021166 'pericarditis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000474 'pericarditis' SubClassOf 'heart disease' 'pericarditis' SubClassOf 'has_disease_location' some ('pericardium' or ('part_of' some 'pericardium')) http://www.ebi.ac.uk/efo/EFO_0008759 GTI-Seq 'GTI-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0007426 pericardial tuberculosis 'pericardial tuberculosis' SubClassOf 'heart disease' 'pericardial tuberculosis' SubClassOf 'Tuberculosis' 'pericardial tuberculosis' SubClassOf 'has_disease_location' some 'pericardium' 'pericardial tuberculosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000368 'pericardial tuberculosis' SubClassOf 'pericarditis' 'pericardial tuberculosis' SubClassOf 'Tuberculosis' http://www.ebi.ac.uk/efo/EFO_0007425 peanut allergic reaction 'peanut allergic reaction' SubClassOf 'food allergy' 'peanut allergic reaction' SubClassOf 'food allergy' 'peanut allergic reaction' SubClassOf 'allergy' 'peanut allergic reaction' SubClassOf 'nut allergic reaction' http://www.orpha.net/ORDO/Orphanet_329242 Congenital chronic diarrhea with protein-losing enteropathy 'Congenital chronic diarrhea with protein-losing enteropathy' SubClassOf 'Genetic intractable diarrhea of infancy' 'Congenital chronic diarrhea with protein-losing enteropathy' SubClassOf 'Genetic intractable diarrhea of infancy' 'Congenital chronic diarrhea with protein-losing enteropathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000824 http://www.ebi.ac.uk/efo/EFO_0007424 pasteurellosis 'pasteurellosis' SubClassOf 'bacterial disease' 'pasteurellosis' SubClassOf 'bacterial disease' http://www.ebi.ac.uk/efo/EFO_0008755 GRIP 'GRIP' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008756 GRO-CAP 'GRO-CAP' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0007429 peritonsillar abscess 'peritonsillar abscess' SubClassOf 'digestive system disease' 'peritonsillar abscess' SubClassOf 'bacterial disease' 'peritonsillar abscess' SubClassOf 'respiratory system disease' 'peritonsillar abscess' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043424 'peritonsillar abscess' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044986 'peritonsillar abscess' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020592 'peritonsillar abscess' SubClassOf 'bacterial disease' 'peritonsillar abscess' SubClassOf 'has_disease_location' some ('tonsil' or ('part_of' some 'tonsil')) 'peritonsillar abscess' SubClassOf 'abscess' http://www.ebi.ac.uk/efo/EFO_0008757 gSELEX-Seq 'gSELEX-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0007428 periodic limb movement disorder 'periodic limb movement disorder' SubClassOf 'movement disorder' 'periodic limb movement disorder' SubClassOf 'movement disorder' 'periodic limb movement disorder' SubClassOf 'Sleep Disorder' http://www.ebi.ac.uk/efo/EFO_0008758 GT-seq 'GT-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.orpha.net/ORDO/Orphanet_329249 Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency 'Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency' SubClassOf 'Genetic non-syndromic obesity' 'Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency' SubClassOf 'Genetic non-syndromic obesity' http://purl.obolibrary.org/obo/CHEBI_73034 O-succinylcarnitine 'O-succinylcarnitine' SubClassOf 'chemical entity' 'O-succinylcarnitine' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_247585 Citrullinemia type II 'Citrullinemia type II' SubClassOf 'Citrin deficiency' 'Citrullinemia type II' SubClassOf 'Citrin deficiency' http://www.orpha.net/ORDO/Orphanet_261893 Partial deletion of the short arm of chromosome 5 'Partial deletion of the short arm of chromosome 5' SubClassOf 'Partial deletion of chromosome 5' 'Partial deletion of the short arm of chromosome 5' SubClassOf 'Partial deletion of chromosome 5' http://www.orpha.net/ORDO/Orphanet_247582 Citrin deficiency 'Citrin deficiency' SubClassOf 'Citrullinemia' 'Citrin deficiency' SubClassOf 'Citrullinemia' http://www.ebi.ac.uk/efo/EFO_0008740 fC-Seal 'fC-Seal' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://purl.obolibrary.org/obo/HP_0005280 Depressed nasal bridge 'Depressed nasal bridge' SubClassOf 'abnormality of the nose' 'Depressed nasal bridge' SubClassOf 'abnormality of the nose' http://www.ebi.ac.uk/efo/EFO_0008741 fCAB-Seq 'fCAB-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008742 obsolete_FISSEQ 'obsolete_FISSEQ' SubClassOf 'obsolete class' 'obsolete_FISSEQ' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0008743 FiT-Seq 'FiT-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0007412 ossifying fibroma 'ossifying fibroma' SubClassOf 'bone neoplasm' 'ossifying fibroma' SubClassOf 'bone neoplasm' http://www.ebi.ac.uk/efo/EFO_0007411 Orthomyxoviridae infectious disease 'Orthomyxoviridae infectious disease' SubClassOf 'viral disease' 'Orthomyxoviridae infectious disease' SubClassOf 'viral disease' http://www.ebi.ac.uk/efo/EFO_0007410 ornithosis 'ornithosis' SubClassOf 'bacterial disease' 'ornithosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000314 'ornithosis' SubClassOf 'bacterial disease' http://www.orpha.net/ORDO/Orphanet_261875 Partial deletion of the short arm of chromosome 3 'Partial deletion of the short arm of chromosome 3' SubClassOf 'Partial deletion of chromosome 3' 'Partial deletion of the short arm of chromosome 3' SubClassOf 'Partial deletion of chromosome 3' http://www.ebi.ac.uk/efo/EFO_0007416 pancreatic endocrine carcinoma 'pancreatic endocrine carcinoma' SubClassOf 'pancreatic carcinoma' 'pancreatic endocrine carcinoma' SubClassOf 'Malignant Pancreatic Neoplasm' 'pancreatic endocrine carcinoma' SubClassOf 'pancreatic carcinoma' 'pancreatic endocrine carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002120 'pancreatic endocrine carcinoma' SubClassOf 'Digestive System Carcinoma' 'pancreatic endocrine carcinoma' SubClassOf 'islet cell tumor' http://www.ebi.ac.uk/efo/EFO_0008748 FRT-Seq 'FRT-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0007415 otitis media with effusion 'otitis media with effusion' SubClassOf 'Otitis media' 'otitis media with effusion' SubClassOf 'Otitis media' 'otitis media with effusion' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021206 http://www.ebi.ac.uk/efo/EFO_0008749 Fusion-seq 'Fusion-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0007414 ostertagiasis 'ostertagiasis' SubClassOf 'parasitic infection' 'ostertagiasis' SubClassOf 'trichostrongyloidiasis' 'ostertagiasis' SubClassOf 'parasitic infection' http://www.ebi.ac.uk/efo/EFO_0007413 osteitis fibrosa 'osteitis fibrosa' SubClassOf 'bone disease' 'osteitis fibrosa' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000837 'osteitis fibrosa' SubClassOf 'bone disease' http://www.ebi.ac.uk/efo/EFO_0008744 FlowSeq 'FlowSeq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0007419 Paramyxoviridae infectious disease 'Paramyxoviridae infectious disease' SubClassOf 'viral disease' 'Paramyxoviridae infectious disease' SubClassOf 'viral disease' 'Paramyxoviridae infectious disease' SubClassOf 'Mononegavirales infectious disease' http://www.ebi.ac.uk/efo/EFO_0008745 Frag-seq 'Frag-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0007418 paragonimiasis 'paragonimiasis' SubClassOf 'parasitic infection' 'paragonimiasis' SubClassOf 'Helminthiasis' 'paragonimiasis' SubClassOf 'parasitic infection' http://www.ebi.ac.uk/efo/EFO_0008746 FREQ-Seq 'FREQ-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0007417 paracoccidioidomycosis 'paracoccidioidomycosis' SubClassOf 'infectious disease' 'paracoccidioidomycosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000308 'paracoccidioidomycosis' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'paracoccidioidomycosis' SubClassOf 'infectious disease' http://www.ebi.ac.uk/efo/EFO_0008747 FRISCR 'FRISCR' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.orpha.net/ORDO/Orphanet_329235 X-linked central congenital hypothyroidism with late-onset testicular enlargement 'X-linked central congenital hypothyroidism with late-onset testicular enlargement' SubClassOf 'Central congenital hypothyroidism' 'X-linked central congenital hypothyroidism with late-onset testicular enlargement' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000425 'X-linked central congenital hypothyroidism with late-onset testicular enlargement' SubClassOf 'Central congenital hypothyroidism' 'X-linked central congenital hypothyroidism with late-onset testicular enlargement' SubClassOf 'Syndromic hypothyroidism' http://www.orpha.net/ORDO/Orphanet_247598 Neonatal intrahepatic cholestasis due to citrin deficiency 'Neonatal intrahepatic cholestasis due to citrin deficiency' SubClassOf 'Citrin deficiency' 'Neonatal intrahepatic cholestasis due to citrin deficiency' SubClassOf 'Citrin deficiency' http://www.orpha.net/ORDO/Orphanet_261884 Partial deletion of the short arm of chromosome 4 'Partial deletion of the short arm of chromosome 4' SubClassOf 'Partial deletion of chromosome 4' 'Partial deletion of the short arm of chromosome 4' SubClassOf 'Partial deletion of chromosome 4' http://purl.obolibrary.org/obo/CHEBI_73040 O-glutarylcarnitine 'O-glutarylcarnitine' SubClassOf 'chemical entity' 'O-glutarylcarnitine' SubClassOf 'chemical entity' http://www.ebi.ac.uk/efo/EFO_0007320 hypodermyiasis 'hypodermyiasis' SubClassOf 'parasitic infection' 'hypodermyiasis' SubClassOf 'parasitic infection' 'hypodermyiasis' SubClassOf 'myiasis' http://www.ebi.ac.uk/efo/EFO_0008652 AHT-ChIP-Seq 'AHT-ChIP-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.orpha.net/ORDO/Orphanet_199318 15q13.3 microdeletion syndrome '15q13.3 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 15' '15q13.3 microdeletion syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '15q13.3 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 15' '15q13.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000761 '15q13.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020016 '15q13.3 microdeletion syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '15q13.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015652 '15q13.3 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 http://www.ebi.ac.uk/efo/EFO_0008653 ARS-Seq 'ARS-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008654 Bar-Seq 'Bar-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'genomic DNA')) http://www.ebi.ac.uk/efo/EFO_0008655 Barcode-Seq 'Barcode-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0007324 inclusion conjunctivitis 'inclusion conjunctivitis' SubClassOf 'bacterial conjunctivitis' 'inclusion conjunctivitis' SubClassOf 'bacterial disease' 'inclusion conjunctivitis' SubClassOf 'Chlamydia trachomatis infectious disease' 'inclusion conjunctivitis' SubClassOf 'bacterial conjunctivitis' 'inclusion conjunctivitis' SubClassOf 'bacterial disease' http://www.ebi.ac.uk/efo/EFO_0007323 inclusion body myositis 'inclusion body myositis' SubClassOf 'myositis' 'inclusion body myositis' SubClassOf 'myositis' http://www.ebi.ac.uk/efo/EFO_0007322 idiopathic CD4-positive T-lymphocytopenia 'idiopathic CD4-positive T-lymphocytopenia' SubClassOf 'immune system disease' 'idiopathic CD4-positive T-lymphocytopenia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003783 'idiopathic CD4-positive T-lymphocytopenia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003780 'idiopathic CD4-positive T-lymphocytopenia' SubClassOf 'immune system disease' http://www.ebi.ac.uk/efo/EFO_0008650 Advanved Chia-PET 'Advanved Chia-PET' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0007321 hypopharynx cancer 'hypopharynx cancer' SubClassOf 'pharynx cancer' 'hypopharynx cancer' SubClassOf 'pharynx cancer' 'hypopharynx cancer' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021358 http://www.ebi.ac.uk/efo/EFO_0008651 AGO-CLIP 'AGO-CLIP' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.orpha.net/ORDO/Orphanet_209203 Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase - 'Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' 'Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' http://www.ebi.ac.uk/efo/EFO_0007328 influenza 'influenza' SubClassOf 'respiratory system disease' 'influenza' SubClassOf 'viral disease' 'influenza' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024352 'influenza' SubClassOf 'has_disease_location' some 'respiratory system' 'influenza' SubClassOf 'Orthomyxoviridae infectious disease' 'influenza' SubClassOf 'viral disease' 'influenza' SubClassOf 'has phenotype' some 'influenza infection' http://www.ebi.ac.uk/efo/EFO_0007327 infectious myxomatosis 'infectious myxomatosis' SubClassOf 'animal disease' 'infectious myxomatosis' SubClassOf 'animal disease' http://www.ebi.ac.uk/efo/EFO_0007326 infectious mononucleosis 'infectious mononucleosis' SubClassOf 'viral disease' 'infectious mononucleosis' SubClassOf 'viral disease' 'infectious mononucleosis' SubClassOf 'Epstein-Barr virus infection' 'infectious mononucleosis' SubClassOf 'has_disease_location' some ('chordate pharynx' or ('part_of' some 'chordate pharynx')) http://www.ebi.ac.uk/efo/EFO_0007325 infectious ectromelia 'infectious ectromelia' SubClassOf 'animal disease' 'infectious ectromelia' SubClassOf 'animal disease' 'infectious ectromelia' SubClassOf 'has_disease_location' some ('zone of skin' or ('part_of' some 'zone of skin')) http://www.ebi.ac.uk/efo/EFO_0008656 BisChIP-Seq 'BisChIP-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008657 BLESS 'BLESS' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008658 BrdU-CLIP 'BrdU-CLIP' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0007329 interdigitating dendritic cell sarcoma 'interdigitating dendritic cell sarcoma' SubClassOf 'sarcoma' 'interdigitating dendritic cell sarcoma' SubClassOf 'has_disease_location' some 'dendritic cell' 'interdigitating dendritic cell sarcoma' SubClassOf 'sarcoma' 'interdigitating dendritic cell sarcoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004380 http://www.ebi.ac.uk/efo/EFO_0008659 Break-seq 'Break-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://purl.obolibrary.org/obo/CHEBI_63599 fludarabine phosphate 'fludarabine phosphate' SubClassOf 'has_role' some 'immunosuppressive agent' 'fludarabine phosphate' SubClassOf 'has_role' some 'prodrug role' 'fludarabine phosphate' SubClassOf 'has_role' some 'antineoplastic agent' 'fludarabine phosphate' SubClassOf 'has_role' some 'antimetabolite role' 'fludarabine phosphate' SubClassOf 'has_role' some 'antiviral' http://www.orpha.net/ORDO/Orphanet_199326 Isolated autosomal dominant hypomagnesemia, Glaudemans type 'Isolated autosomal dominant hypomagnesemia, Glaudemans type' SubClassOf 'Familial primary hypomagnesemia with normocalcuria' 'Isolated autosomal dominant hypomagnesemia, Glaudemans type' SubClassOf 'Familial primary hypomagnesemia with normocalcuria' http://www.ebi.ac.uk/efo/EFO_0008641 3’-end-seq '3’-end-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008642 3’NT method '3’NT method' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008643 3′-Seq '3′-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008644 3P-Seq '3P-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0007313 HIV-associated nephropathy 'HIV-associated nephropathy' SubClassOf 'kidney disease' 'HIV-associated nephropathy' EquivalentTo 'AIDS-related disease' and ('disease has feature' some 'kidney disease') 'HIV-associated nephropathy' SubClassOf 'viral disease' 'HIV-associated nephropathy' SubClassOf 'has_disease_location' some ('kidney' or ('part_of' some 'kidney')) 'HIV-associated nephropathy' SubClassOf 'kidney neoplasm' 'HIV-associated nephropathy' SubClassOf 'disease has feature' some 'kidney disease' 'HIV-associated nephropathy' SubClassOf 'focal segmental glomerulosclerosis' http://www.ebi.ac.uk/efo/EFO_0007312 HIV wasting syndrome 'HIV wasting syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000621 'HIV wasting syndrome' SubClassOf 'HIV infection' http://www.ebi.ac.uk/efo/EFO_0007311 HIV enteropathy 'HIV enteropathy' EquivalentTo 'AIDS-related disease' and ('disease has feature' some 'intestinal disease') 'HIV enteropathy' SubClassOf 'disease has feature' some 'intestinal disease' http://www.ebi.ac.uk/efo/EFO_0007310 histoplasmosis 'histoplasmosis' SubClassOf 'infectious disease' 'histoplasmosis' SubClassOf 'infectious disease' 'histoplasmosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000308 'histoplasmosis' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://www.ebi.ac.uk/efo/EFO_0008640 3'T-fill '3'T-fill' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0007317 hymenolepiasis 'hymenolepiasis' SubClassOf 'parasitic infection' 'hymenolepiasis' SubClassOf 'Helminthiasis' 'hymenolepiasis' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'hymenolepiasis' SubClassOf 'disease has feature' some http://purl.obolibrary.org/obo/MONDO_0002280 'hymenolepiasis' SubClassOf 'parasitic infection' 'hymenolepiasis' SubClassOf 'has_disease_location' some ('digestive system' or ('part_of' some 'digestive system')) http://www.ebi.ac.uk/efo/EFO_0008649 Aba-seq 'Aba-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0007316 Human T-lymphotropic virus 1 infectious disease 'Human T-lymphotropic virus 1 infectious disease' SubClassOf 'viral disease' 'Human T-lymphotropic virus 1 infectious disease' SubClassOf 'viral disease' 'Human T-lymphotropic virus 1 infectious disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021184 http://www.ebi.ac.uk/efo/EFO_0007315 hordeolum 'hordeolum' SubClassOf 'has_disease_location' some ('eyelid' or ('part_of' some 'eyelid')) 'hordeolum' SubClassOf 'disease has feature' some 'blepharitis' 'hordeolum' SubClassOf 'skin disease' http://www.ebi.ac.uk/efo/EFO_0007314 hookworm infectious disease 'hookworm infectious disease' SubClassOf 'infectious disease' 'hookworm infectious disease' SubClassOf 'infectious disease' http://www.ebi.ac.uk/efo/EFO_0008645 3-Seq '3-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008646 4sUDRB-seq '4sUDRB-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0007319 hyperprolactinemia 'hyperprolactinemia' SubClassOf 'metabolic disease' 'hyperprolactinemia' SubClassOf 'has_disease_location' some ('blood' or ('part_of' some 'blood')) 'hyperprolactinemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024297 'hyperprolactinemia' SubClassOf 'metabolic disease' 'hyperprolactinemia' SubClassOf 'hyperpituitarism' http://www.ebi.ac.uk/efo/EFO_0008647 5’-GRO-seq '5’-GRO-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0007318 hyperinsulinemic hypoglycemia 'hyperinsulinemic hypoglycemia' SubClassOf 'Disorder of carbohydrate metabolism' 'hyperinsulinemic hypoglycemia' SubClassOf 'Disorder of carbohydrate metabolism' http://www.ebi.ac.uk/efo/EFO_0008648 5PSeq '5PSeq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.orpha.net/ORDO/Orphanet_199310 Tetragametic chimerism 'Tetragametic chimerism' SubClassOf 'X and Y chromosomal anomaly' 'Tetragametic chimerism' SubClassOf 'Sex chromosome disorder of sex development' 'Tetragametic chimerism' SubClassOf 'Syndrome with disorder of sex development of gynecological interest' 'Tetragametic chimerism' SubClassOf 'X and Y chromosomal anomaly' 'Tetragametic chimerism' SubClassOf 'Sex chromosome disorder of sex development' 'Tetragametic chimerism' SubClassOf 'Syndrome with disorder of sex development of gynecological interest' http://www.orpha.net/ORDO/Orphanet_199315 Familial clubfoot with or without associated lower limb anomalies 'Familial clubfoot with or without associated lower limb anomalies' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' 'Familial clubfoot with or without associated lower limb anomalies' SubClassOf 'Genetic syndrome with limb malformations as a major feature' 'Familial clubfoot with or without associated lower limb anomalies' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' 'Familial clubfoot with or without associated lower limb anomalies' SubClassOf 'Genetic syndrome with limb malformations as a major feature' http://www.ebi.ac.uk/efo/EFO_0007342 legionellosis 'legionellosis' SubClassOf 'bacterial disease' 'legionellosis' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'legionellosis' SubClassOf 'bacterial disease' 'legionellosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000314 http://www.ebi.ac.uk/efo/EFO_0008674 Capture-HiC 'Capture-HiC' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0007341 obsolete_Legg-Calve-Perthes Disease 'obsolete_Legg-Calve-Perthes Disease' SubClassOf 'obsolete class' 'obsolete_Legg-Calve-Perthes Disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0008675 CaptureSeq 'CaptureSeq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0007340 latent syphilis 'latent syphilis' SubClassOf 'syphilis' 'latent syphilis' SubClassOf 'syphilis' http://www.ebi.ac.uk/efo/EFO_0008676 CAST-ChIP 'CAST-ChIP' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008677 CATCH-IT 'CATCH-IT' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0007346 lipoatrophic diabetes 'lipoatrophic diabetes' SubClassOf 'type II diabetes mellitus' 'lipoatrophic diabetes' SubClassOf 'type II diabetes mellitus' http://www.ebi.ac.uk/efo/EFO_0008670 caMAB-seq 'caMAB-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0007345 lipid pneumonia 'lipid pneumonia' SubClassOf 'pneumonia' 'lipid pneumonia' SubClassOf 'pneumonia' 'lipid pneumonia' SubClassOf 'Pneumonia, Aspiration' http://www.ebi.ac.uk/efo/EFO_0008671 CAP-seq 'CAP-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0007344 leptospirosis 'leptospirosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000314 http://www.ebi.ac.uk/efo/EFO_0008672 Capp-Seq 'Capp-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.orpha.net/ORDO/Orphanet_209224 Qualitative or quantitative defects of myotilin 'Qualitative or quantitative defects of myotilin' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' 'Qualitative or quantitative defects of myotilin' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' http://www.ebi.ac.uk/efo/EFO_0007343 Legionnaires' disease 'Legionnaires' disease' SubClassOf 'bacterial disease' 'Legionnaires' disease' SubClassOf 'bacterial disease' 'Legionnaires' disease' SubClassOf 'legionellosis' 'Legionnaires' disease' SubClassOf 'bacterial pneumonia' http://www.ebi.ac.uk/efo/EFO_0008673 CapSeq 'CapSeq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0007349 lumpy skin disease 'lumpy skin disease' SubClassOf 'viral disease' 'lumpy skin disease' SubClassOf 'viral disease' 'lumpy skin disease' SubClassOf 'has_disease_location' some ('zone of skin' or ('part_of' some 'zone of skin')) http://purl.obolibrary.org/obo/CHEBI_50266 prodrug role 'prodrug role' SubClassOf 'inheres_in' some 'chemical entity' http://www.ebi.ac.uk/efo/EFO_0007348 louping ill 'louping ill' SubClassOf 'animal disease' 'louping ill' SubClassOf 'Flaviviridae infectious disease' 'louping ill' SubClassOf http://purl.obolibrary.org/obo/MONDO_0025294 'louping ill' SubClassOf 'animal disease' http://www.ebi.ac.uk/efo/EFO_0007347 listeriosis 'listeriosis' SubClassOf 'bacterial disease' 'listeriosis' SubClassOf 'bacterial disease' 'listeriosis' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'listeriosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000314 http://www.ebi.ac.uk/efo/EFO_0008678 CATCH-seq 'CATCH-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008679 CEL-Seq 'CEL-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.orpha.net/ORDO/Orphanet_101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness 'Autosomal recessive Charcot-Marie-Tooth disease with hoarseness' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019601 'Autosomal recessive Charcot-Marie-Tooth disease with hoarseness' SubClassOf 'Autosomal dominant Charcot-Marie-Tooth disease type 2' http://www.orpha.net/ORDO/Orphanet_101092 Hyper-IgM syndrome type 5 'Hyper-IgM syndrome type 5' SubClassOf 'Hyper-IgM syndrome without susceptibility to opportunistic infections' 'Hyper-IgM syndrome type 5' SubClassOf 'Hyper-IgM syndrome without susceptibility to opportunistic infections' http://www.orpha.net/ORDO/Orphanet_101090 Hyper-IgM syndrome type 3 'Hyper-IgM syndrome type 3' SubClassOf 'Hyper-IgM syndrome with susceptibility to opportunistic infections' 'Hyper-IgM syndrome type 3' SubClassOf 'Hyper-IgM syndrome with susceptibility to opportunistic infections' http://www.orpha.net/ORDO/Orphanet_101091 Hyper-IgM syndrome type 4 'Hyper-IgM syndrome type 4' SubClassOf 'Hyper-IgM syndrome without susceptibility to opportunistic infections' 'Hyper-IgM syndrome type 4' SubClassOf 'Hyper-IgM syndrome without susceptibility to opportunistic infections' http://www.ebi.ac.uk/efo/EFO_0008680 ChAP-seq 'ChAP-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0007331 islet cell tumor 'islet cell tumor' SubClassOf 'pancreatic neoplasm' 'islet cell tumor' SubClassOf 'has_disease_location' some ('islet of Langerhans' or ('part_of' some 'islet of Langerhans')) 'islet cell tumor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018520 'islet cell tumor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015078 'islet cell tumor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001933 http://www.ebi.ac.uk/efo/EFO_0008663 BruDRB-seq 'BruDRB-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0007330 intestinal cancer 'intestinal cancer' SubClassOf 'carcinoma' 'intestinal cancer' SubClassOf 'digestive system disease' 'intestinal cancer' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002516 'intestinal cancer' SubClassOf 'has_disease_location' some ('intestine' or ('part_of' some 'intestine')) 'intestinal cancer' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021118 'intestinal cancer' SubClassOf 'carcinoma' http://www.ebi.ac.uk/efo/EFO_0008664 BruUV-Seq 'BruUV-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008665 BS-Seq 'BS-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008666 BSAS 'BSAS' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0007335 Kluver-Bucy syndrome 'Kluver-Bucy syndrome' SubClassOf 'mental or behavioural disorder' 'Kluver-Bucy syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Kluver-Bucy syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001162 'Kluver-Bucy syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015659 'Kluver-Bucy syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020067 'Kluver-Bucy syndrome' SubClassOf 'mental or behavioural disorder' 'Kluver-Bucy syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019956 http://www.ebi.ac.uk/efo/EFO_0007334 obsolete_Klippel-Trenaunay syndrome 'obsolete_Klippel-Trenaunay syndrome' SubClassOf 'obsolete class' 'obsolete_Klippel-Trenaunay syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0008660 BRIC-seq 'BRIC-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0007333 jaw cancer 'jaw cancer' SubClassOf 'mouth neoplasm' 'jaw cancer' SubClassOf 'bone neoplasm' 'jaw cancer' SubClassOf 'bone neoplasm' 'jaw cancer' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002132 'jaw cancer' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002516 'jaw cancer' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021580 http://www.ebi.ac.uk/efo/EFO_0008661 Bru-Seq 'Bru-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0007332 Japanese encephalitis 'Japanese encephalitis' SubClassOf 'encephalomyelitis' 'Japanese encephalitis' SubClassOf 'Flaviviridae infectious disease' 'Japanese encephalitis' SubClassOf 'has_disease_location' some ('brain' or ('part_of' some 'brain')) 'Japanese encephalitis' SubClassOf 'encephalomyelitis' 'Japanese encephalitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015659 'Japanese encephalitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020601 http://www.ebi.ac.uk/efo/EFO_0008662 BruChase-Seq 'BruChase-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0007339 late congenital syphilis 'late congenital syphilis' SubClassOf 'congenital syphilis' 'late congenital syphilis' SubClassOf 'congenital syphilis' http://www.ebi.ac.uk/efo/EFO_0007338 Lassa fever 'Lassa fever' SubClassOf 'viral disease' 'Lassa fever' SubClassOf 'viral disease' 'Lassa fever' SubClassOf 'Arenavirus hemorrhagic fever' 'Lassa fever' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044750 http://www.ebi.ac.uk/efo/EFO_0007337 laryngeal tuberculosis 'laryngeal tuberculosis' SubClassOf 'respiratory system disease' 'laryngeal tuberculosis' SubClassOf 'Tuberculosis' 'laryngeal tuberculosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024355 'laryngeal tuberculosis' SubClassOf 'has_disease_location' some ('larynx' or ('part_of' some 'larynx')) 'laryngeal tuberculosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002647 'laryngeal tuberculosis' SubClassOf 'Tuberculosis' http://www.ebi.ac.uk/efo/EFO_0007336 Langerhans cell sarcoma 'Langerhans cell sarcoma' SubClassOf 'sarcoma' 'Langerhans cell sarcoma' SubClassOf 'has_disease_location' some 'Langerhans cell' 'Langerhans cell sarcoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020082 'Langerhans cell sarcoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004380 'Langerhans cell sarcoma' SubClassOf 'sarcoma' http://www.ebi.ac.uk/efo/EFO_0008667 BSPP 'BSPP' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008668 CAB-Seq 'CAB-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008669 CAGEscan 'CAGEscan' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0007364 meningoencephalitis 'meningoencephalitis' SubClassOf 'central nervous system disease' 'meningoencephalitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019956 'meningoencephalitis' SubClassOf 'nervous system disease' 'meningoencephalitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020067 'meningoencephalitis' SubClassOf 'has_disease_location' some ('central nervous system' or ('part_of' some 'central nervous system')) http://www.ebi.ac.uk/efo/EFO_0008696 COPRO-seq 'COPRO-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0007363 meibomian cyst 'meibomian cyst' SubClassOf 'blepharitis' 'meibomian cyst' SubClassOf 'has_disease_location' some ('eyelid' or ('part_of' some 'eyelid')) 'meibomian cyst' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004917 http://www.ebi.ac.uk/efo/EFO_0008697 cP-RNA-Seq 'cP-RNA-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.orpha.net/ORDO/Orphanet_261826 Partial deletion of chromosome 16 'Partial deletion of chromosome 16' SubClassOf 'Partial autosomal monosomy' 'Partial deletion of chromosome 16' SubClassOf 'Partial autosomal monosomy' http://www.ebi.ac.uk/efo/EFO_0007362 mediastinal cancer 'mediastinal cancer' SubClassOf 'carcinoma' 'mediastinal cancer' SubClassOf 'carcinoma' 'mediastinal cancer' SubClassOf 'has_disease_location' some ('mediastinum' or ('part_of' some 'mediastinum')) 'mediastinal cancer' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003274 'mediastinal cancer' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021386 http://www.ebi.ac.uk/efo/EFO_0008698 CPT-seq 'CPT-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0007361 maxillary sinusitis 'maxillary sinusitis' SubClassOf 'sinusitis' 'maxillary sinusitis' SubClassOf 'mouth disease' 'maxillary sinusitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023369 'maxillary sinusitis' SubClassOf 'sinusitis' http://www.ebi.ac.uk/efo/EFO_0008699 CRE-Seq 'CRE-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0007368 miliary tuberculosis 'miliary tuberculosis' SubClassOf 'Tuberculosis' 'miliary tuberculosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000368 'miliary tuberculosis' SubClassOf 'Tuberculosis' http://www.ebi.ac.uk/efo/EFO_0008692 CLaP 'CLaP' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0007367 middle lobe syndrome 'middle lobe syndrome' SubClassOf 'lung disease' 'middle lobe syndrome' SubClassOf 'lung disease' http://www.ebi.ac.uk/efo/EFO_0008693 CLASH 'CLASH' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://purl.obolibrary.org/obo/CLO_0014900 GM17104 'GM17104' SubClassOf 'has_quality' some 'male' 'GM17104' SubClassOf 'cultured cell' 'GM17104' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0007366 microsporidiosis 'microsporidiosis' SubClassOf 'immune system disease' 'microsporidiosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002312 'microsporidiosis' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'microsporidiosis' SubClassOf 'participates_in' some 'infection' 'microsporidiosis' SubClassOf 'parasitic infection' 'microsporidiosis' SubClassOf 'immune system disease' http://www.ebi.ac.uk/efo/EFO_0008694 ClickSeq 'ClickSeq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.orpha.net/ORDO/Orphanet_261821 Partial deletion of the long arm of chromosome 12 'Partial deletion of the long arm of chromosome 12' SubClassOf 'Partial deletion of chromosome 12' 'Partial deletion of the long arm of chromosome 12' SubClassOf 'Partial deletion of chromosome 12' http://purl.obolibrary.org/obo/CLO_0014901 GM17105 'GM17105' SubClassOf 'has_quality' some 'male' 'GM17105' SubClassOf 'cultured cell' 'GM17105' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0007365 mesoblastic nephroma 'mesoblastic nephroma' SubClassOf 'kidney neoplasm' 'mesoblastic nephroma' SubClassOf 'kidney neoplasm' http://www.ebi.ac.uk/efo/EFO_0008695 CNV-Seq 'CNV-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.orpha.net/ORDO/Orphanet_165985 Diazoxide-sensitive diffuse hyperinsulinism 'Diazoxide-sensitive diffuse hyperinsulinism' SubClassOf 'Congenital isolated hyperinsulinism' 'Diazoxide-sensitive diffuse hyperinsulinism' SubClassOf 'Congenital isolated hyperinsulinism' http://www.ebi.ac.uk/efo/EFO_0007369 milk allergic reaction 'milk allergic reaction' SubClassOf 'food allergy' 'milk allergic reaction' SubClassOf 'allergy' 'milk allergic reaction' SubClassOf 'food allergy' http://purl.obolibrary.org/obo/CHEBI_50249 anticoagulant 'anticoagulant' SubClassOf 'inheres_in' some 'chemical entity' http://www.orpha.net/ORDO/Orphanet_247525 Citrullinemia type I 'Citrullinemia type I' SubClassOf 'Citrullinemia' 'Citrullinemia type I' SubClassOf 'Citrullinemia' http://www.orpha.net/ORDO/Orphanet_247522 Primary ciliary dyskinesia - retinitis pigmentosa 'Primary ciliary dyskinesia - retinitis pigmentosa' SubClassOf 'Syndromic retinitis pigmentosa' 'Primary ciliary dyskinesia - retinitis pigmentosa' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015118 'Primary ciliary dyskinesia - retinitis pigmentosa' SubClassOf http://purl.obolibrary.org/obo/MONDO_0010227 'Primary ciliary dyskinesia - retinitis pigmentosa' SubClassOf 'Syndromic retinitis pigmentosa' 'Primary ciliary dyskinesia - retinitis pigmentosa' SubClassOf 'has_disease_location' some 'cilium' http://www.ebi.ac.uk/efo/EFO_0007371 Miller Fisher syndrome 'Miller Fisher syndrome' SubClassOf 'Guillain-Barre syndrome' 'Miller Fisher syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016494 'Miller Fisher syndrome' SubClassOf 'Guillain-Barre syndrome' 'Miller Fisher syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002427 'Miller Fisher syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000568 http://www.ebi.ac.uk/efo/EFO_0007370 milker's nodule 'milker's nodule' SubClassOf 'viral disease' 'milker's nodule' SubClassOf 'viral disease' 'milker's nodule' SubClassOf 'has_disease_location' some ('zone of skin' or ('part_of' some 'zone of skin')) http://www.ebi.ac.uk/efo/EFO_0007353 lymphogranuloma venereum 'lymphogranuloma venereum' SubClassOf 'bacterial disease' 'lymphogranuloma venereum' SubClassOf 'granuloma inguinale' 'lymphogranuloma venereum' SubClassOf 'lymphatic system disease' 'lymphogranuloma venereum' SubClassOf 'Chlamydia trachomatis infectious disease' 'lymphogranuloma venereum' SubClassOf 'bacterial disease' http://www.ebi.ac.uk/efo/EFO_0008685 ChIP-BS-seq 'ChIP-BS-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.orpha.net/ORDO/Orphanet_261816 Partial deletion of chromosome 11 'Partial deletion of chromosome 11' SubClassOf 'Partial autosomal monosomy' 'Partial deletion of chromosome 11' SubClassOf 'Partial autosomal monosomy' http://www.ebi.ac.uk/efo/EFO_0007352 lymphatic system disease 'lymphatic system disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044986 'lymphatic system disease' EquivalentTo 'has_disease_location' some ('lymphatic part of lymphoid system' or ('part_of' some 'lymphatic part of lymphoid system')) http://www.ebi.ac.uk/efo/EFO_0008686 ChIPmentation 'ChIPmentation' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0007351 lymphangitis 'lymphangitis' SubClassOf 'hematologic disease' 'lymphangitis' SubClassOf 'lymphatic system disease' 'lymphangitis' SubClassOf 'hematologic disease' 'lymphangitis' SubClassOf 'vasculitis' http://www.ebi.ac.uk/efo/EFO_0008687 ChIRP 'ChIRP' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0007350 lymph node tuberculosis 'lymph node tuberculosis' SubClassOf 'Tuberculosis' 'lymph node tuberculosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000368 'lymph node tuberculosis' SubClassOf 'Tuberculosis' 'lymph node tuberculosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004928 'lymph node tuberculosis' SubClassOf 'has_disease_location' some 'lymph node' http://www.ebi.ac.uk/efo/EFO_0008688 CIP-TAP 'CIP-TAP' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0007357 mansonelliasis 'mansonelliasis' SubClassOf 'skin disease' 'mansonelliasis' SubClassOf 'skin disease' 'mansonelliasis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016075 http://www.ebi.ac.uk/efo/EFO_0008681 CHART 'CHART' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0007356 mandibular cancer 'mandibular cancer' SubClassOf 'digestive system disease' 'mandibular cancer' SubClassOf 'skeletal system disease' 'mandibular cancer' SubClassOf 'head and neck neoplasia' 'mandibular cancer' SubClassOf 'jaw cancer' 'mandibular cancer' SubClassOf 'has_disease_location' some ('mandible' or ('part_of' some 'mandible')) 'mandibular cancer' SubClassOf 'neoplasm' http://www.ebi.ac.uk/efo/EFO_0008682 ChEC-seq 'ChEC-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'genomic DNA')) http://www.orpha.net/ORDO/Orphanet_261811 Partial deletion of chromosome 10 'Partial deletion of chromosome 10' SubClassOf 'Partial autosomal monosomy' 'Partial deletion of chromosome 10' SubClassOf 'Partial autosomal monosomy' http://www.ebi.ac.uk/efo/EFO_0007355 male reproductive organ cancer 'male reproductive organ cancer' SubClassOf 'urogenital neoplasm' 'male reproductive organ cancer' SubClassOf 'carcinoma' 'male reproductive organ cancer' SubClassOf 'male reproductive system disease' 'male reproductive organ cancer' SubClassOf 'has_disease_location' some ('male reproductive system' or ('part_of' some 'male reproductive system')) 'male reproductive organ cancer' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024582 'male reproductive organ cancer' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002149 'male reproductive organ cancer' SubClassOf 'carcinoma' http://www.ebi.ac.uk/efo/EFO_0008683 Chem-Seq 'Chem-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0007354 obsolete_Lynch syndrome 'obsolete_Lynch syndrome' SubClassOf 'obsolete class' 'obsolete_Lynch syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0008684 Chia-PET 'Chia-PET' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0007359 mast-cell leukemia 'mast-cell leukemia' SubClassOf 'leukemia' 'mast-cell leukemia' SubClassOf 'leukemia' 'mast-cell leukemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016586 http://www.ebi.ac.uk/efo/EFO_0007358 Marburg hemorrhagic fever 'Marburg hemorrhagic fever' SubClassOf 'viral disease' 'Marburg hemorrhagic fever' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018087 'Marburg hemorrhagic fever' SubClassOf 'Filoviridae infectious disease' 'Marburg hemorrhagic fever' SubClassOf 'viral disease' http://www.ebi.ac.uk/efo/EFO_0008689 Circle-Seq 'Circle-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://purl.obolibrary.org/obo/ZFA_0000669 head kidney 'head kidney' SubClassOf 'part_of' some 'endocrine system' 'head kidney' SubClassOf 'part_of' some 'hematopoietic system' 'head kidney' SubClassOf 'part_of' some 'kidney' http://purl.obolibrary.org/obo/CLO_0014902 GM17106 'GM17106' SubClassOf 'has_quality' some 'male' 'GM17106' SubClassOf 'cultured cell' 'GM17106' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/CLO_0014903 GM17107 'GM17107' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17107' SubClassOf 'cultured cell' 'GM17107' SubClassOf 'has_quality' some 'male' http://www.ebi.ac.uk/efo/EFO_0008690 CIRS-seq 'CIRS-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008691 CirSeq 'CirSeq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0007360 maxillary neoplasm 'maxillary neoplasm' SubClassOf 'head and neck neoplasia' 'maxillary neoplasm' SubClassOf 'skeletal system disease' 'maxillary neoplasm' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021580 'maxillary neoplasm' SubClassOf 'has_disease_location' some ('palatoquadrate arch' or ('part_of' some 'palatoquadrate arch')) 'maxillary neoplasm' SubClassOf 'neoplasm' http://www.ebi.ac.uk/efo/EFO_0007386 Mycobacterium avium complex disease 'Mycobacterium avium complex disease' SubClassOf 'bacterial disease' 'Mycobacterium avium complex disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000314 'Mycobacterium avium complex disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020590 'Mycobacterium avium complex disease' SubClassOf 'bacterial disease' http://www.ebi.ac.uk/efo/EFO_0007385 mushroom workers' lung 'mushroom workers' lung' SubClassOf 'allergy' 'mushroom workers' lung' SubClassOf 'allergy' 'mushroom workers' lung' SubClassOf 'extrinsic allergic alveolitis' 'mushroom workers' lung' SubClassOf 'has_disease_location' some ('alveolus' or ('part_of' some 'alveolus')) http://www.ebi.ac.uk/efo/EFO_0007384 muscle cancer 'muscle cancer' SubClassOf 'carcinoma' 'muscle cancer' SubClassOf 'has_disease_location' some ('musculature of body' or ('part_of' some 'musculature of body')) 'muscle cancer' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000637 'muscle cancer' SubClassOf 'carcinoma' http://www.ebi.ac.uk/efo/EFO_0007383 Mumps virus infectious disease 'Mumps virus infectious disease' SubClassOf 'viral disease' 'Mumps virus infectious disease' SubClassOf 'Paramyxoviridae infectious disease' 'Mumps virus infectious disease' SubClassOf 'viral disease' http://www.orpha.net/ORDO/Orphanet_261801 Partial deletion of chromosome 8 'Partial deletion of chromosome 8' SubClassOf 'Partial autosomal monosomy' 'Partial deletion of chromosome 8' SubClassOf 'Partial autosomal monosomy' http://www.ebi.ac.uk/efo/EFO_0007389 myiasis 'myiasis' SubClassOf 'parasitic infection' 'myiasis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002875 'myiasis' SubClassOf 'parasitic infection' 'myiasis' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://www.ebi.ac.uk/efo/EFO_0007388 myelophthisic anemia 'myelophthisic anemia' SubClassOf 'hematologic disease' 'myelophthisic anemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0012197 'myelophthisic anemia' SubClassOf 'hematologic disease' http://www.ebi.ac.uk/efo/EFO_0007387 Mycoplasma pneumoniae pneumonia 'Mycoplasma pneumoniae pneumonia' SubClassOf 'pneumonia' 'Mycoplasma pneumoniae pneumonia' SubClassOf 'bacterial pneumonia' 'Mycoplasma pneumoniae pneumonia' SubClassOf 'pneumonia' http://purl.obolibrary.org/obo/CHEBI_50223 (+)-dexrazoxane '(+)-dexrazoxane' SubClassOf 'has_role' some 'antineoplastic agent' '(+)-dexrazoxane' SubClassOf 'has_role' some 'immunosuppressive agent' '(+)-dexrazoxane' SubClassOf 'has_role' some 'cardiovascular drug' http://www.orpha.net/ORDO/Orphanet_261806 Partial deletion of chromosome 9 'Partial deletion of chromosome 9' SubClassOf 'Partial autosomal monosomy' 'Partial deletion of chromosome 9' SubClassOf 'Partial autosomal monosomy' http://www.ebi.ac.uk/efo/EFO_0007393 neuroaspergillosis 'neuroaspergillosis' SubClassOf 'immune system disease' 'neuroaspergillosis' SubClassOf 'aspergillosis' 'neuroaspergillosis' SubClassOf 'immune system disease' 'neuroaspergillosis' SubClassOf 'has_disease_location' some ('central nervous system' or ('part_of' some 'central nervous system')) http://purl.obolibrary.org/obo/CHEBI_62205 3-methylxanthine '3-methylxanthine' SubClassOf 'chemical entity' '3-methylxanthine' SubClassOf 'chemical entity' http://www.ebi.ac.uk/efo/EFO_0007392 nervous system cancer 'nervous system cancer' SubClassOf 'carcinoma' 'nervous system cancer' SubClassOf 'nervous system disease' 'nervous system cancer' SubClassOf 'carcinoma' 'nervous system cancer' SubClassOf 'cancer' 'nervous system cancer' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021248 'nervous system cancer' SubClassOf 'has_disease_location' some ('nervous system' or ('part_of' some 'nervous system')) http://www.ebi.ac.uk/efo/EFO_0007391 Nematoda infectious disease 'Nematoda infectious disease' SubClassOf 'parasitic infection' 'Nematoda infectious disease' SubClassOf 'Helminthiasis' 'Nematoda infectious disease' SubClassOf 'parasitic infection' http://www.ebi.ac.uk/efo/EFO_0007390 necatoriasis 'necatoriasis' SubClassOf 'parasitic infection' 'necatoriasis' SubClassOf 'has_disease_location' some ('small intestine' or ('part_of' some 'small intestine')) 'necatoriasis' SubClassOf 'Helminthiasis' 'necatoriasis' SubClassOf 'parasitic infection' http://www.ebi.ac.uk/efo/EFO_0007375 molluscum contagiosum 'molluscum contagiosum' SubClassOf 'viral disease' 'molluscum contagiosum' SubClassOf 'viral disease' 'molluscum contagiosum' SubClassOf 'has_disease_location' some ('zone of skin' or ('part_of' some 'zone of skin')) http://www.ebi.ac.uk/efo/EFO_0007374 mixed connective tissue disease 'mixed connective tissue disease' SubClassOf 'rheumatic disease' 'mixed connective tissue disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000774 'mixed connective tissue disease' SubClassOf 'has_disease_location' some 'connective tissue' 'mixed connective tissue disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000589 'mixed connective tissue disease' SubClassOf 'skeletal system disease' 'mixed connective tissue disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019724 'mixed connective tissue disease' SubClassOf 'rheumatic disease' 'mixed connective tissue disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016663 'mixed connective tissue disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015928 'mixed connective tissue disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016177 http://purl.obolibrary.org/obo/CHEBI_38593 fenazaquin 'fenazaquin' SubClassOf 'has_role' some 'drug role' http://www.ebi.ac.uk/efo/EFO_0007373 mixed cell type cancer 'mixed cell type cancer' SubClassOf 'carcinoma' 'mixed cell type cancer' SubClassOf 'carcinoma' http://www.ebi.ac.uk/efo/EFO_0007372 mitral valve stenosis 'mitral valve stenosis' SubClassOf 'mitral valve disease' 'mitral valve stenosis' SubClassOf 'heart disease' 'mitral valve stenosis' SubClassOf 'mitral valve disease' 'mitral valve stenosis' SubClassOf 'has_disease_location' some ('mitral valve' or ('part_of' some 'mitral valve')) http://www.ebi.ac.uk/efo/EFO_0007379 mucocutaneous Leishmaniasis 'mucocutaneous Leishmaniasis' SubClassOf 'Leishmaniasis' 'mucocutaneous Leishmaniasis' SubClassOf 'Leishmaniasis' http://www.ebi.ac.uk/efo/EFO_0007378 mucinous cystadenocarcinoma 'mucinous cystadenocarcinoma' SubClassOf 'cystadenocarcinoma' 'mucinous cystadenocarcinoma' SubClassOf 'mucinous carcinoma' 'mucinous cystadenocarcinoma' SubClassOf 'cystadenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0007377 Morbillivirus infectious disease 'Morbillivirus infectious disease' SubClassOf 'viral disease' 'Morbillivirus infectious disease' SubClassOf 'viral disease' 'Morbillivirus infectious disease' SubClassOf 'Paramyxoviridae infectious disease' http://www.ebi.ac.uk/efo/EFO_0007376 Mononegavirales infectious disease 'Mononegavirales infectious disease' SubClassOf 'viral disease' 'Mononegavirales infectious disease' SubClassOf 'viral disease' http://www.orpha.net/ORDO/Orphanet_165991 Exercise-induced hyperinsulinism 'Exercise-induced hyperinsulinism' SubClassOf 'Disorder of carbohydrate absorption and transport' 'Exercise-induced hyperinsulinism' SubClassOf 'Diazoxide-sensitive diffuse hyperinsulinism' 'Exercise-induced hyperinsulinism' SubClassOf 'hyperinsulinemic hypoglycemia' 'Exercise-induced hyperinsulinism' SubClassOf 'Disorder of carbohydrate absorption and transport' 'Exercise-induced hyperinsulinism' SubClassOf 'Diazoxide-sensitive diffuse hyperinsulinism' http://www.orpha.net/ORDO/Orphanet_165994 Selective pituitary resistance to thyroid hormone 'Selective pituitary resistance to thyroid hormone' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001328 'Selective pituitary resistance to thyroid hormone' SubClassOf 'Hyperthyroidism' 'Selective pituitary resistance to thyroid hormone' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://www.orpha.net/ORDO/Orphanet_165988 Diazoxide-resistant diffuse hyperinsulinism 'Diazoxide-resistant diffuse hyperinsulinism' SubClassOf 'Diazoxide-resistant hyperinsulinism' 'Diazoxide-resistant diffuse hyperinsulinism' SubClassOf 'Diazoxide-resistant hyperinsulinism' http://www.orpha.net/ORDO/Orphanet_247511 Autosomal dominant secondary polycythemia 'Autosomal dominant secondary polycythemia' SubClassOf 'Congenital secondary polycythemia' 'Autosomal dominant secondary polycythemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 'Autosomal dominant secondary polycythemia' SubClassOf 'Congenital secondary polycythemia' http://www.ebi.ac.uk/efo/EFO_0007382 multiple chemical sensitivity 'multiple chemical sensitivity' SubClassOf 'immune system disease' 'multiple chemical sensitivity' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'multiple chemical sensitivity' SubClassOf 'immune system disease' http://www.ebi.ac.uk/efo/EFO_0007381 multidrug-resistant tuberculosis 'multidrug-resistant tuberculosis' SubClassOf 'Tuberculosis' 'multidrug-resistant tuberculosis' SubClassOf 'Tuberculosis' 'multidrug-resistant tuberculosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0041806 http://www.ebi.ac.uk/efo/EFO_0007380 mucormycosis 'mucormycosis' SubClassOf 'infectious disease' 'mucormycosis' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'mucormycosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002312 http://www.orpha.net/ORDO/Orphanet_177926 Symptomatic form of hemophilia A in female carriers 'Symptomatic form of hemophilia A in female carriers' SubClassOf 'Hemophilia A' 'Symptomatic form of hemophilia A in female carriers' SubClassOf 'Hemophilia A' http://www.orpha.net/ORDO/Orphanet_177929 Symptomatic form of hemophilia B in female carriers 'Symptomatic form of hemophilia B in female carriers' SubClassOf 'Hemophilia B' 'Symptomatic form of hemophilia B in female carriers' SubClassOf 'Hemophilia B' http://www.orpha.net/ORDO/Orphanet_101033 Peters anomaly - cataract 'Peters anomaly - cataract' SubClassOf 'Peters anomaly' 'Peters anomaly - cataract' SubClassOf 'Peters anomaly' http://www.orpha.net/ORDO/Orphanet_101030 Subependymal nodular heterotopia 'Subependymal nodular heterotopia' SubClassOf 'Nodular neuronal heterotopia' 'Subependymal nodular heterotopia' SubClassOf 'Nodular neuronal heterotopia' http://purl.obolibrary.org/obo/CL_2000074 splenocyte 'splenocyte' EquivalentTo 'leukocyte' and ('part_of' some 'spleen') 'splenocyte' SubClassOf 'part_of' some 'spleen' http://purl.obolibrary.org/obo/CHEBI_25255 methyl methanesulfonate 'methyl methanesulfonate' SubClassOf 'has_role' some 'alkylating agent role' http://www.ebi.ac.uk/efo/EFO_0007397 nocardiosis 'nocardiosis' SubClassOf 'infectious disease' 'nocardiosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000316 'nocardiosis' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'nocardiosis' SubClassOf 'infectious disease' http://www.ebi.ac.uk/efo/EFO_0007396 Nidovirales infectious disease 'Nidovirales infectious disease' SubClassOf 'viral disease' 'Nidovirales infectious disease' SubClassOf 'viral disease' http://www.ebi.ac.uk/efo/EFO_0007395 Newcastle disease 'Newcastle disease' SubClassOf 'viral disease' 'Newcastle disease' SubClassOf 'Avulavirus infectious disease' 'Newcastle disease' SubClassOf 'viral disease' http://www.ebi.ac.uk/efo/EFO_0007394 neuroschistosomiasis 'neuroschistosomiasis' SubClassOf 'parasitic infection' 'neuroschistosomiasis' SubClassOf 'central nervous system infection' 'neuroschistosomiasis' SubClassOf 'schistosomiasis' 'neuroschistosomiasis' SubClassOf 'parasitic infection' http://www.orpha.net/ORDO/Orphanet_101049 Familial hypocalciuric hypercalcemia type 2 'Familial hypocalciuric hypercalcemia type 2' SubClassOf 'Familial hypocalciuric hypercalcemia' 'Familial hypocalciuric hypercalcemia type 2' SubClassOf 'Familial hypocalciuric hypercalcemia' http://www.ebi.ac.uk/efo/EFO_0007399 ocular toxoplasmosis 'ocular toxoplasmosis' SubClassOf 'eye disease' 'ocular toxoplasmosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020947 'ocular toxoplasmosis' SubClassOf 'eye disease' 'ocular toxoplasmosis' SubClassOf 'toxoplasmosis' http://www.ebi.ac.uk/efo/EFO_0007398 ocular onchocerciasis 'ocular onchocerciasis' SubClassOf 'eye disease' 'ocular onchocerciasis' SubClassOf 'eye disease' 'ocular onchocerciasis' SubClassOf 'onchocerciasis' 'ocular onchocerciasis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020947 http://www.orpha.net/ORDO/Orphanet_101046 Autosomal dominant epilepsy with auditory features 'Autosomal dominant epilepsy with auditory features' SubClassOf 'Familial partial epilepsy' 'Autosomal dominant epilepsy with auditory features' SubClassOf 'temporal lobe epilepsy' 'Autosomal dominant epilepsy with auditory features' SubClassOf 'Familial partial epilepsy' http://purl.obolibrary.org/obo/UBERON_0016552 phlegm 'phlegm' SubClassOf 'animal component' 'phlegm' SubClassOf http://purl.obolibrary.org/obo/UBERON_0000912 http://www.orpha.net/ORDO/Orphanet_101041 Familial hypofibrinogenemia 'Familial hypofibrinogenemia' SubClassOf 'Congenital fibrinogen deficiency' 'Familial hypofibrinogenemia' SubClassOf 'Familial afibrinogenemia' http://www.orpha.net/ORDO/Orphanet_102373 Primary glomerular disease 'Primary glomerular disease' SubClassOf 'glomerular disease' http://purl.obolibrary.org/obo/UBERON_2001129 pharyngeal pouches 2-6 'pharyngeal pouches 2-6' SubClassOf 'pharyngeal pouch' http://www.orpha.net/ORDO/Orphanet_307967 Punctate palmoplantar keratoderma 'Punctate palmoplantar keratoderma' SubClassOf 'Hereditary palmoplantar keratoderma' 'Punctate palmoplantar keratoderma' SubClassOf 'palmoplantar keratosis' 'Punctate palmoplantar keratoderma' SubClassOf 'Hereditary palmoplantar keratoderma' 'Punctate palmoplantar keratoderma' SubClassOf 'palmoplantar keratosis' http://www.orpha.net/ORDO/Orphanet_177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 'Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2' SubClassOf 'Prader-Willi syndrome due to paternal 15q11q13 deletion' 'Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2' SubClassOf 'Prader-Willi syndrome due to paternal 15q11q13 deletion' http://www.orpha.net/ORDO/Orphanet_177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 'Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1' SubClassOf 'Prader-Willi syndrome due to paternal 15q11q13 deletion' 'Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1' SubClassOf 'Prader-Willi syndrome due to paternal 15q11q13 deletion' http://www.orpha.net/ORDO/Orphanet_101016 Romano-Ward syndrome 'Romano-Ward syndrome' SubClassOf 'Familial long QT syndrome' 'Romano-Ward syndrome' SubClassOf 'Familial long QT syndrome' http://www.orpha.net/ORDO/Orphanet_177907 Prader-Willi syndrome due to translocation 'Prader-Willi syndrome due to translocation' SubClassOf 'Prader-Willi syndrome' 'Prader-Willi syndrome due to translocation' SubClassOf 'Prader-Willi syndrome' http://www.orpha.net/ORDO/Orphanet_101010 Autosomal recessive spastic paraplegia type 30 'Autosomal recessive spastic paraplegia type 30' SubClassOf 'Pure or complex autosomal recessive spastic paraplegia' 'Autosomal recessive spastic paraplegia type 30' SubClassOf 'Pure or complex autosomal dominant spastic paraplegia' 'Autosomal recessive spastic paraplegia type 30' SubClassOf 'Pure or complex autosomal recessive spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_101011 Autosomal dominant spastic paraplegia type 31 'Autosomal dominant spastic paraplegia type 31' SubClassOf 'Pure or complex autosomal dominant spastic paraplegia' 'Autosomal dominant spastic paraplegia type 31' SubClassOf 'Pure or complex autosomal dominant spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_307936 Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome 'Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome' SubClassOf 'Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature' 'Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome' SubClassOf 'Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature' http://purl.obolibrary.org/obo/CHEBI_27891 S-sulfo-L-cysteine 'S-sulfo-L-cysteine' SubClassOf 'amino acid' 'S-sulfo-L-cysteine' SubClassOf 'amino acid' http://www.orpha.net/ORDO/Orphanet_177910 Prader-Willi syndrome due to imprinting mutation 'Prader-Willi syndrome due to imprinting mutation' SubClassOf 'Prader-Willi syndrome' 'Prader-Willi syndrome due to imprinting mutation' SubClassOf 'Prader-Willi syndrome' http://purl.obolibrary.org/obo/CHEBI_27899 cisplatin 'cisplatin' SubClassOf ('has_role' some 'mutagen') and ('has_role' some 'antineoplastic agent') http://www.orpha.net/ORDO/Orphanet_101029 Sub-cortical nodular heterotopia 'Sub-cortical nodular heterotopia' SubClassOf 'Nodular neuronal heterotopia' 'Sub-cortical nodular heterotopia' SubClassOf 'Nodular neuronal heterotopia' http://www.orpha.net/ORDO/Orphanet_101028 Transaldolase deficiency 'Transaldolase deficiency' SubClassOf 'Disorder of pentose phosphate metabolism' 'Transaldolase deficiency' SubClassOf 'Disorder of pentose phosphate metabolism' http://www.orpha.net/ORDO/Orphanet_306617 X-linked complicated spastic paraplegia type 1 'X-linked complicated spastic paraplegia type 1' SubClassOf 'L1 syndrome' 'X-linked complicated spastic paraplegia type 1' SubClassOf 'L1 syndrome' 'X-linked complicated spastic paraplegia type 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020605 http://www.orpha.net/ORDO/Orphanet_295163 Postaxial polydactyly type A, unilateral 'Postaxial polydactyly type A, unilateral' SubClassOf 'Postaxial polydactyly type A' 'Postaxial polydactyly type A, unilateral' SubClassOf 'Postaxial polydactyly type A' http://www.orpha.net/ORDO/Orphanet_295161 Polysyndactyly, bilateral 'Polysyndactyly, bilateral' SubClassOf 'Polysyndactyly' 'Polysyndactyly, bilateral' SubClassOf 'Polysyndactyly' http://www.orpha.net/ORDO/Orphanet_101078 X-linked Charcot-Marie-Tooth disease type 4 'X-linked Charcot-Marie-Tooth disease type 4' SubClassOf 'X-linked Charcot-Marie-Tooth disease' 'X-linked Charcot-Marie-Tooth disease type 4' SubClassOf 'X-linked Charcot-Marie-Tooth disease' http://www.orpha.net/ORDO/Orphanet_295167 Postaxial polydactyly type B, unilateral 'Postaxial polydactyly type B, unilateral' SubClassOf 'Postaxial polydactyly type B' 'Postaxial polydactyly type B, unilateral' SubClassOf 'Postaxial polydactyly type B' http://www.orpha.net/ORDO/Orphanet_101076 X-linked Charcot-Marie-Tooth disease type 2 'X-linked Charcot-Marie-Tooth disease type 2' SubClassOf 'X-linked Charcot-Marie-Tooth disease' 'X-linked Charcot-Marie-Tooth disease type 2' SubClassOf 'X-linked Charcot-Marie-Tooth disease' http://www.orpha.net/ORDO/Orphanet_295165 Postaxial polydactyly type A, bilateral 'Postaxial polydactyly type A, bilateral' SubClassOf 'Postaxial polydactyly type A' 'Postaxial polydactyly type A, bilateral' SubClassOf 'Postaxial polydactyly type A' http://www.orpha.net/ORDO/Orphanet_101077 X-linked Charcot-Marie-Tooth disease type 3 'X-linked Charcot-Marie-Tooth disease type 3' SubClassOf 'X-linked Charcot-Marie-Tooth disease' 'X-linked Charcot-Marie-Tooth disease type 3' SubClassOf 'X-linked Charcot-Marie-Tooth disease' http://www.orpha.net/ORDO/Orphanet_101075 X-linked Charcot-Marie-Tooth disease type 1 'X-linked Charcot-Marie-Tooth disease type 1' SubClassOf 'Hereditary motor and sensory neuropathy' 'X-linked Charcot-Marie-Tooth disease type 1' SubClassOf 'X-linked Charcot-Marie-Tooth disease' 'X-linked Charcot-Marie-Tooth disease type 1' SubClassOf 'X-linked Charcot-Marie-Tooth disease' http://www.orpha.net/ORDO/Orphanet_295169 Postaxial polydactyly type B, bilateral 'Postaxial polydactyly type B, bilateral' SubClassOf 'Postaxial polydactyly type B' 'Postaxial polydactyly type B, bilateral' SubClassOf 'Postaxial polydactyly type B' http://www.orpha.net/ORDO/Orphanet_101070 Bilateral frontoparietal polymicrogyria 'Bilateral frontoparietal polymicrogyria' SubClassOf 'Bilateral polymicrogyria' 'Bilateral frontoparietal polymicrogyria' SubClassOf 'Bilateral polymicrogyria' http://www.orpha.net/ORDO/Orphanet_101071 Unilateral hemispheric polymicrogyria 'Unilateral hemispheric polymicrogyria' SubClassOf 'Unilateral polymicrogyria' 'Unilateral hemispheric polymicrogyria' SubClassOf 'Unilateral polymicrogyria' http://www.orpha.net/ORDO/Orphanet_89937 Autosomal dominant hypophosphatemic rickets 'Autosomal dominant hypophosphatemic rickets' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000044 'Autosomal dominant hypophosphatemic rickets' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 http://www.orpha.net/ORDO/Orphanet_89936 X-linked hypophosphatemia 'X-linked hypophosphatemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000044 'X-linked hypophosphatemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000425 http://purl.obolibrary.org/obo/CHEBI_2341 AACOCF3 'AACOCF3' SubClassOf 'has_role' some 'phospholipase A2 inhibitor' http://www.orpha.net/ORDO/Orphanet_89938 Infantile Bartter syndrome with sensorineural deafness 'Infantile Bartter syndrome with sensorineural deafness' SubClassOf 'Bartter syndrome' 'Infantile Bartter syndrome with sensorineural deafness' SubClassOf 'Syndromic genetic deafness' 'Infantile Bartter syndrome with sensorineural deafness' SubClassOf 'Bartter syndrome' 'Infantile Bartter syndrome with sensorineural deafness' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_295173 Central polydactyly of fingers, bilateral 'Central polydactyly of fingers, bilateral' SubClassOf 'Central polydactyly of fingers' 'Central polydactyly of fingers, bilateral' SubClassOf 'Central polydactyly of fingers' http://www.orpha.net/ORDO/Orphanet_295171 Central polydactyly of fingers, unilateral 'Central polydactyly of fingers, unilateral' SubClassOf 'Central polydactyly of fingers' 'Central polydactyly of fingers, unilateral' SubClassOf 'Central polydactyly of fingers' http://www.orpha.net/ORDO/Orphanet_101089 Hyper-IgM syndrome type 2 'Hyper-IgM syndrome type 2' SubClassOf 'Hyper-IgM syndrome without susceptibility to opportunistic infections' 'Hyper-IgM syndrome type 2' SubClassOf 'autosomal recessive disease' 'Hyper-IgM syndrome type 2' SubClassOf 'Hyper-IgM syndrome without susceptibility to opportunistic infections' http://www.orpha.net/ORDO/Orphanet_295177 Preaxial polydactyly of toes, bilateral 'Preaxial polydactyly of toes, bilateral' SubClassOf 'Preaxial polydactyly of toes' 'Preaxial polydactyly of toes, bilateral' SubClassOf 'Preaxial polydactyly of toes' http://www.orpha.net/ORDO/Orphanet_101088 X-linked hyper-IgM syndrome 'X-linked hyper-IgM syndrome' SubClassOf 'Hyper-IgM syndrome with susceptibility to opportunistic infections' 'X-linked hyper-IgM syndrome' SubClassOf 'Hyper-IgM syndrome with susceptibility to opportunistic infections' 'X-linked hyper-IgM syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000425 http://www.orpha.net/ORDO/Orphanet_295175 Preaxial polydactyly of toes, unilateral 'Preaxial polydactyly of toes, unilateral' SubClassOf 'Preaxial polydactyly of toes' 'Preaxial polydactyly of toes, unilateral' SubClassOf 'Preaxial polydactyly of toes' http://www.orpha.net/ORDO/Orphanet_101085 Charcot-Marie-Tooth disease type 1F 'Charcot-Marie-Tooth disease type 1F' SubClassOf 'Charcot-Marie-Tooth disease type 1' 'Charcot-Marie-Tooth disease type 1F' SubClassOf 'Charcot-Marie-Tooth disease type 1' http://purl.obolibrary.org/obo/CHEBI_39867 valproic acid 'valproic acid' SubClassOf 'has_role' some 'antimanic drug' http://www.orpha.net/ORDO/Orphanet_101083 Charcot-Marie-Tooth disease type 1C 'Charcot-Marie-Tooth disease type 1C' SubClassOf 'Charcot-Marie-Tooth disease type 1' 'Charcot-Marie-Tooth disease type 1C' SubClassOf 'Charcot-Marie-Tooth disease type 1' http://www.orpha.net/ORDO/Orphanet_101084 Charcot-Marie-Tooth disease type 1D 'Charcot-Marie-Tooth disease type 1D' SubClassOf 'Charcot-Marie-Tooth disease type 1' 'Charcot-Marie-Tooth disease type 1D' SubClassOf 'Charcot-Marie-Tooth disease type 1' http://www.orpha.net/ORDO/Orphanet_295179 Postaxial polydactyly of toes, unilateral 'Postaxial polydactyly of toes, unilateral' SubClassOf 'Postaxial polydactyly of toes' 'Postaxial polydactyly of toes, unilateral' SubClassOf 'Postaxial polydactyly of toes' http://www.orpha.net/ORDO/Orphanet_101081 Charcot-Marie-Tooth disease type 1A 'Charcot-Marie-Tooth disease type 1A' SubClassOf 'Charcot-Marie-Tooth disease type 1' 'Charcot-Marie-Tooth disease type 1A' SubClassOf 'Partial duplication of the short arm of chromosome 17' 'Charcot-Marie-Tooth disease type 1A' SubClassOf 'Charcot-Marie-Tooth disease type 1' 'Charcot-Marie-Tooth disease type 1A' SubClassOf 'Partial duplication of the short arm of chromosome 17' 'Charcot-Marie-Tooth disease type 1A' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 http://purl.obolibrary.org/obo/UBERON_0005870 olfactory pit 'olfactory pit' SubClassOf 'part_of' some 'embryo' 'olfactory pit' SubClassOf 'develops_from' some 'olfactory placode' 'olfactory pit' SubClassOf 'part_of' some 'olfactory apparatus' http://www.orpha.net/ORDO/Orphanet_101082 Charcot-Marie-Tooth disease type 1B 'Charcot-Marie-Tooth disease type 1B' SubClassOf 'Charcot-Marie-Tooth disease type 1' 'Charcot-Marie-Tooth disease type 1B' SubClassOf 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type D' 'Charcot-Marie-Tooth disease type 1B' SubClassOf 'Charcot-Marie-Tooth disease type 1' http://purl.obolibrary.org/obo/CHEBI_27881 resveratrol 'resveratrol' SubClassOf 'has_role' some 'toxin' http://www.orpha.net/ORDO/Orphanet_295181 Postaxial polydactyly of toes, bilateral 'Postaxial polydactyly of toes, bilateral' SubClassOf 'Postaxial polydactyly of toes' 'Postaxial polydactyly of toes, bilateral' SubClassOf 'Postaxial polydactyly of toes' http://purl.obolibrary.org/obo/UBERON_0016540 occipital cortex 'occipital cortex' SubClassOf 'part_of' some 'occipital lobe' http://www.orpha.net/ORDO/Orphanet_295185 Central polydactyly of toes, bilateral 'Central polydactyly of toes, bilateral' SubClassOf 'Central polydactyly of toes' 'Central polydactyly of toes, bilateral' SubClassOf 'Central polydactyly of toes' http://www.orpha.net/ORDO/Orphanet_37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome 'Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome' SubClassOf 'malabsorption syndrome' 'Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome' SubClassOf 'Immunodeficiency syndrome with autoimmunity' 'Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome' SubClassOf 'Genetic intractable diarrhea of infancy' 'Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome' SubClassOf 'Immunodeficiency syndrome with autoimmunity' 'Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017278 'Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019787 'Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome' SubClassOf 'Genetic intractable diarrhea of infancy' http://www.orpha.net/ORDO/Orphanet_295183 Central polydactyly of toes, unilateral 'Central polydactyly of toes, unilateral' SubClassOf 'Central polydactyly of toes' 'Central polydactyly of toes, unilateral' SubClassOf 'Central polydactyly of toes' http://www.orpha.net/ORDO/Orphanet_295189 Zygodactyly type 2 'Zygodactyly type 2' SubClassOf 'Syndactyly type 1' 'Zygodactyly type 2' SubClassOf 'Syndactyly type 1' http://www.orpha.net/ORDO/Orphanet_295187 Zygodactyly type 1 'Zygodactyly type 1' SubClassOf 'Syndactyly type 1' 'Zygodactyly type 1' SubClassOf 'Syndactyly type 1' http://purl.obolibrary.org/obo/UBERON_2001156 posterior lateral line placode 'posterior lateral line placode' SubClassOf 'zebrafish embryonic structure' 'posterior lateral line placode' SubClassOf http://purl.obolibrary.org/obo/UBERON_0003067 'posterior lateral line placode' DisjointWith 'anterior lateral line placode' http://www.orpha.net/ORDO/Orphanet_101050 Familial hypocalciuric hypercalcemia type 3 'Familial hypocalciuric hypercalcemia type 3' SubClassOf 'Familial hypocalciuric hypercalcemia' 'Familial hypocalciuric hypercalcemia type 3' SubClassOf 'Familial hypocalciuric hypercalcemia' http://purl.obolibrary.org/obo/CHEBI_2365 (+)-abscisic acid '(+)-abscisic acid' SubClassOf 'has_role' some 'phytohormone' http://purl.obolibrary.org/obo/CHEBI_2360 abacavir 'abacavir' SubClassOf 'has_role' some 'drug role' http://purl.obolibrary.org/obo/CHEBI_15891 taurine 'taurine' SubClassOf 'chemical entity' 'taurine' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_295191 Zygodactyly type 3 'Zygodactyly type 3' SubClassOf 'Syndactyly type 1' 'Zygodactyly type 3' SubClassOf 'Syndactyly type 1' http://www.orpha.net/ORDO/Orphanet_295195 Synpolydactyly type 1 'Synpolydactyly type 1' SubClassOf 'Syndactyly type 2' 'Synpolydactyly type 1' SubClassOf 'Syndactyly type 2' 'Synpolydactyly type 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000722 http://www.orpha.net/ORDO/Orphanet_295193 Zygodactyly type 4 'Zygodactyly type 4' SubClassOf 'Syndactyly type 1' 'Zygodactyly type 4' SubClassOf 'Syndactyly type 1' http://www.orpha.net/ORDO/Orphanet_101068 Congenital stromal corneal dystrophy 'Congenital stromal corneal dystrophy' SubClassOf 'Stromal corneal dystrophy' 'Congenital stromal corneal dystrophy' SubClassOf 'Stromal corneal dystrophy' http://www.orpha.net/ORDO/Orphanet_295199 Synpolydactyly type 3 'Synpolydactyly type 3' SubClassOf 'Syndactyly type 2' 'Synpolydactyly type 3' SubClassOf 'Syndactyly type 2' 'Synpolydactyly type 3' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000722 http://purl.obolibrary.org/obo/UBERON_2001142 tooth 5V 'tooth 5V' SubClassOf http://purl.obolibrary.org/obo/UBERON_2000694 http://www.orpha.net/ORDO/Orphanet_295197 Synpolydactyly type 2 'Synpolydactyly type 2' SubClassOf 'Syndactyly type 2' 'Synpolydactyly type 2' SubClassOf 'Syndactyly type 2' 'Synpolydactyly type 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000722 http://purl.obolibrary.org/obo/UBERON_2001143 tooth 4V 'tooth 4V' SubClassOf http://purl.obolibrary.org/obo/UBERON_2000694 http://www.orpha.net/ORDO/Orphanet_101063 Situs inversus totalis 'Situs inversus totalis' SubClassOf 'Genetic cardiac anomaly' 'Situs inversus totalis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018677 'Situs inversus totalis' SubClassOf 'Genetic cardiac anomaly' http://purl.obolibrary.org/obo/UBERON_2001145 tooth 3V 'tooth 3V' SubClassOf http://purl.obolibrary.org/obo/UBERON_2000694 http://purl.obolibrary.org/obo/CL_2000018 endothelial cell of coronary artery 'endothelial cell of coronary artery' EquivalentTo 'endothelial cell' and ('part_of' some 'coronary artery') 'endothelial cell of coronary artery' SubClassOf 'part_of' some 'coronary artery' http://www.orpha.net/ORDO/Orphanet_64686 Tolosa-Hunt syndrome 'Tolosa-Hunt syndrome' SubClassOf 'Rare strabismus and restriction syndrome' 'Tolosa-Hunt syndrome' SubClassOf 'ocular motility disease' 'Tolosa-Hunt syndrome' SubClassOf 'Rare strabismus and restriction syndrome' 'Tolosa-Hunt syndrome' SubClassOf 'Nuclear oculomotor paralysis' 'Tolosa-Hunt syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 http://www.orpha.net/ORDO/Orphanet_356961 SLC35A2-CDG 'SLC35A2-CDG' SubClassOf 'Congenital disorder of glycosylation with developmental anomaly' 'SLC35A2-CDG' SubClassOf 'Disorder of multiple glycosylation' 'SLC35A2-CDG' SubClassOf 'Genetic syndrome with a central nervous system malformation as major feature' 'SLC35A2-CDG' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' 'SLC35A2-CDG' SubClassOf 'congenital disorder of glycosylation type II' 'SLC35A2-CDG' SubClassOf 'Congenital disorder of glycosylation with developmental anomaly' 'SLC35A2-CDG' SubClassOf 'Disorder of multiple glycosylation' 'SLC35A2-CDG' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017120 'SLC35A2-CDG' SubClassOf 'Monogenic disease with epilepsy' 'SLC35A2-CDG' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' http://www.orpha.net/ORDO/Orphanet_90970 Primary lipodystrophy 'Primary lipodystrophy' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Primary lipodystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019296 http://www.orpha.net/ORDO/Orphanet_295122 Split hand, bilateral 'Split hand, bilateral' SubClassOf 'Split hand' 'Split hand, bilateral' SubClassOf 'Split hand' http://www.orpha.net/ORDO/Orphanet_295120 Split hand, unilateral 'Split hand, unilateral' SubClassOf 'Split hand' 'Split hand, unilateral' SubClassOf 'Split hand' http://www.orpha.net/ORDO/Orphanet_295126 Split foot, bilateral 'Split foot, bilateral' SubClassOf 'Split foot' 'Split foot, bilateral' SubClassOf 'Split foot' http://purl.obolibrary.org/obo/CHEBI_15963 ribitol 'ribitol' SubClassOf 'carbohydrate' 'ribitol' SubClassOf 'carbohydrate' http://www.orpha.net/ORDO/Orphanet_295124 Split foot, unilateral 'Split foot, unilateral' SubClassOf 'Split foot' 'Split foot, unilateral' SubClassOf 'Split foot' http://www.orpha.net/ORDO/Orphanet_295118 Adactyly of foot, bilateral 'Adactyly of foot, bilateral' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018563 http://purl.obolibrary.org/obo/HP_0007754 Macular dystrophy 'Macular dystrophy' SubClassOf 'abnormal morphology of the posterior segment of the globe' 'Macular dystrophy' SubClassOf 'abnormal morphology of the posterior segment of the globe' http://www.orpha.net/ORDO/Orphanet_88642 Channelopathy-associated congenital insensitivity to pain 'Channelopathy-associated congenital insensitivity to pain' SubClassOf 'Autosomal recessive hereditary sensory and autonomic neuropathy' 'Channelopathy-associated congenital insensitivity to pain' SubClassOf 'Autosomal recessive hereditary sensory and autonomic neuropathy' http://purl.obolibrary.org/obo/CHEBI_27958 cocaine 'cocaine' SubClassOf 'has_role' some 'drug role' http://www.orpha.net/ORDO/Orphanet_295130 Brachydactyly of fingers, bilateral 'Brachydactyly of fingers, bilateral' SubClassOf 'Brachydactyly of fingers' 'Brachydactyly of fingers, bilateral' SubClassOf 'Brachydactyly of fingers' http://www.orpha.net/ORDO/Orphanet_88644 Autosomal recessive ataxia, Beauce type 'Autosomal recessive ataxia, Beauce type' SubClassOf 'Autosomal recessive cerebellar ataxia' 'Autosomal recessive ataxia, Beauce type' SubClassOf 'Autosomal recessive cerebellar ataxia' http://www.orpha.net/ORDO/Orphanet_88643 Obesity - colitis - hypothyroidism - cardiac hypertrophy - developmental delay 'Obesity - colitis - hypothyroidism - cardiac hypertrophy - developmental delay' SubClassOf 'Syndromic hypothyroidism' 'Obesity - colitis - hypothyroidism - cardiac hypertrophy - developmental delay' SubClassOf 'Syndromic hypothyroidism' http://www.orpha.net/ORDO/Orphanet_295134 Brachydactyly of toes, bilateral 'Brachydactyly of toes, bilateral' SubClassOf 'Brachydactyly of toes' 'Brachydactyly of toes, bilateral' SubClassOf 'Brachydactyly of toes' http://www.orpha.net/ORDO/Orphanet_329332 Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome 'Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome' SubClassOf 'Syndrome with microcephaly as major feature' 'Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome' SubClassOf 'Syndrome with microcephaly as major feature' 'Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_295132 Brachydactyly of toes, unilateral 'Brachydactyly of toes, unilateral' SubClassOf 'Brachydactyly of toes' 'Brachydactyly of toes, unilateral' SubClassOf 'Brachydactyly of toes' http://www.orpha.net/ORDO/Orphanet_75327 North Carolina macular dystrophy 'North Carolina macular dystrophy' SubClassOf 'Colobomatous and areolar dystrophy' 'North Carolina macular dystrophy' SubClassOf 'Colobomatous and areolar dystrophy' http://www.orpha.net/ORDO/Orphanet_75326 Retinal arterial tortuosity 'Retinal arterial tortuosity' SubClassOf 'Genetic central nervous system and retinal vascular disease' 'Retinal arterial tortuosity' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018790 http://www.orpha.net/ORDO/Orphanet_295138 Symbrachydactyly of hand and foot, bilateral 'Symbrachydactyly of hand and foot, bilateral' SubClassOf 'Symbrachydactyly of hands and feet' 'Symbrachydactyly of hand and foot, bilateral' SubClassOf 'Symbrachydactyly of hands and feet' http://purl.obolibrary.org/obo/CHEBI_3638 chloroquine 'chloroquine' SubClassOf 'has_role' some 'drug role' http://www.orpha.net/ORDO/Orphanet_356978 D,L-2-hydroxyglutaric aciduria 'D,L-2-hydroxyglutaric aciduria' SubClassOf '2-hydroxyglutaric aciduria' 'D,L-2-hydroxyglutaric aciduria' SubClassOf '2-hydroxyglutaric aciduria' http://www.orpha.net/ORDO/Orphanet_295136 Symbrachydactyly of hand and foot, unilateral 'Symbrachydactyly of hand and foot, unilateral' SubClassOf 'Symbrachydactyly of hands and feet' 'Symbrachydactyly of hand and foot, unilateral' SubClassOf 'Symbrachydactyly of hands and feet' http://purl.obolibrary.org/obo/CHEBI_3647 chlorpromazine 'chlorpromazine' SubClassOf 'has_role' some 'phenothiazine antipsychotic drug' http://www.orpha.net/ORDO/Orphanet_295128 Brachydactyly of fingers, unilateral 'Brachydactyly of fingers, unilateral' SubClassOf 'Brachydactyly of fingers' 'Brachydactyly of fingers, unilateral' SubClassOf 'Brachydactyly of fingers' http://www.orpha.net/ORDO/Orphanet_329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy 'Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy' SubClassOf 'Mitochondrial myopathy' 'Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy' SubClassOf 'Neurometabolic disease' 'Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy' SubClassOf 'Syndromic genetic deafness' 'Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA' 'Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy' SubClassOf 'Mitochondrial myopathy' 'Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy' SubClassOf 'Neurometabolic disease' 'Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA' 'Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_99324 Paternal uniparental disomy of chromosome 13 'Paternal uniparental disomy of chromosome 13' SubClassOf 'Uniparental disomy of paternal origin' 'Paternal uniparental disomy of chromosome 13' SubClassOf 'Uniparental disomy of paternal origin' http://www.orpha.net/ORDO/Orphanet_88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency 'Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency' SubClassOf 'Classic organic aciduria' 'Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency' SubClassOf 'Neurometabolic disease' 'Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency' SubClassOf 'Cerebral organic aciduria' 'Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency' SubClassOf 'Classic organic aciduria' 'Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency' SubClassOf 'Neurometabolic disease' 'Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0037870 'Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency' SubClassOf 'Disorder of branched-chain amino acid metabolism' http://www.orpha.net/ORDO/Orphanet_88637 Hypomyelination - hypogonadotropic hypogonadism - hypodontia 'Hypomyelination - hypogonadotropic hypogonadism - hypodontia' SubClassOf 'Rare disorder with hypogonadotropic hypogonadism' 'Hypomyelination - hypogonadotropic hypogonadism - hypodontia' SubClassOf 'Rare disorder with hypogonadotropic hypogonadism' http://www.orpha.net/ORDO/Orphanet_88630 Terminal osseous dysplasia - pigmentary defects 'Terminal osseous dysplasia - pigmentary defects' SubClassOf 'Acromelic dysplasia' 'Terminal osseous dysplasia - pigmentary defects' SubClassOf 'Genetic hyperpigmentation of the skin' 'Terminal osseous dysplasia - pigmentary defects' SubClassOf 'Filamin-related bone disorder' 'Terminal osseous dysplasia - pigmentary defects' SubClassOf 'Acromelic dysplasia' 'Terminal osseous dysplasia - pigmentary defects' SubClassOf 'Genetic hyperpigmentation of the skin' 'Terminal osseous dysplasia - pigmentary defects' SubClassOf 'Filamin-related bone disorder' http://purl.obolibrary.org/obo/CLO_0014887 GM17109 'GM17109' SubClassOf 'has_quality' some 'male' 'GM17109' SubClassOf 'cultured cell' 'GM17109' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://www.orpha.net/ORDO/Orphanet_88635 Myopathy due to calsequestrin and SERCA1 protein overload 'Myopathy due to calsequestrin and SERCA1 protein overload' SubClassOf 'Qualitative or quantitative defects of protein SERCA1' 'Myopathy due to calsequestrin and SERCA1 protein overload' SubClassOf 'Genetic skeletal muscle disease' 'Myopathy due to calsequestrin and SERCA1 protein overload' SubClassOf 'Qualitative or quantitative defects of protein SERCA1' 'Myopathy due to calsequestrin and SERCA1 protein overload' SubClassOf 'Genetic skeletal muscle disease' http://www.orpha.net/ORDO/Orphanet_295140 Hyperphalangy, unilateral 'Hyperphalangy, unilateral' SubClassOf 'Hyperphalangy' 'Hyperphalangy, unilateral' SubClassOf 'Hyperphalangy' http://purl.obolibrary.org/obo/CLO_0014889 GM17108 'GM17108' SubClassOf 'cultured cell' 'GM17108' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17108' SubClassOf 'has_quality' some 'male' http://www.orpha.net/ORDO/Orphanet_88632 Familial ocular anterior segment mesenchymal dysgenesis 'Familial ocular anterior segment mesenchymal dysgenesis' SubClassOf 'Rare eye disease due to a differentiation anomaly' 'Familial ocular anterior segment mesenchymal dysgenesis' SubClassOf 'Rare eye disease due to a differentiation anomaly' http://purl.obolibrary.org/obo/UBERON_2001073 axial vasculature 'axial vasculature' SubClassOf 'vasculature' http://www.orpha.net/ORDO/Orphanet_99329 48,XYYY syndrome '48,XYYY syndrome' SubClassOf 'Male infertility due to gonadal dysgenesis' '48,XYYY syndrome' SubClassOf 'Y chromosome number anomaly' '48,XYYY syndrome' SubClassOf 'Syndromic urogenital tract malformation' '48,XYYY syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 '48,XYYY syndrome' SubClassOf 'Male infertility due to gonadal dysgenesis' '48,XYYY syndrome' SubClassOf 'Rare genetic neurological disorder' '48,XYYY syndrome' SubClassOf 'Y chromosome number anomaly' '48,XYYY syndrome' SubClassOf 'Syndromic urogenital tract malformation' '48,XYYY syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 http://www.orpha.net/ORDO/Orphanet_295144 Polydactyly of a biphalangeal thumb, unilateral 'Polydactyly of a biphalangeal thumb, unilateral' SubClassOf 'Polydactyly of a biphalangeal thumb' 'Polydactyly of a biphalangeal thumb, unilateral' SubClassOf 'Polydactyly of a biphalangeal thumb' http://www.orpha.net/ORDO/Orphanet_295142 Hyperphalangy, bilateral 'Hyperphalangy, bilateral' SubClassOf 'Hyperphalangy' 'Hyperphalangy, bilateral' SubClassOf 'Hyperphalangy' http://www.orpha.net/ORDO/Orphanet_295148 Polydactyly of a triphalangeal thumb, unilateral 'Polydactyly of a triphalangeal thumb, unilateral' SubClassOf 'Polydactyly of a triphalangeal thumb' 'Polydactyly of a triphalangeal thumb, unilateral' SubClassOf 'Polydactyly of a triphalangeal thumb' http://www.orpha.net/ORDO/Orphanet_295146 Polydactyly of a biphalangeal thumb, bilateral 'Polydactyly of a biphalangeal thumb, bilateral' SubClassOf 'Polydactyly of a biphalangeal thumb' 'Polydactyly of a biphalangeal thumb, bilateral' SubClassOf 'Polydactyly of a biphalangeal thumb' http://www.orpha.net/ORDO/Orphanet_329329 Autosomal recessive frontotemporal pachygyria 'Autosomal recessive frontotemporal pachygyria' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015572 http://www.orpha.net/ORDO/Orphanet_75325 Osteosclerosis - ichthyosis - premature ovarian failure 'Osteosclerosis - ichthyosis - premature ovarian failure' SubClassOf 'Autosomal ichthyosis syndrome with other associated signs' 'Osteosclerosis - ichthyosis - premature ovarian failure' SubClassOf 'Non-acquired premature ovarian failure' 'Osteosclerosis - ichthyosis - premature ovarian failure' SubClassOf 'Primary bone dysplasia with increased bone density' 'Osteosclerosis - ichthyosis - premature ovarian failure' SubClassOf 'Rare female infertility due to an anomaly of ovarian function of genetic origin' 'Osteosclerosis - ichthyosis - premature ovarian failure' SubClassOf 'Autosomal ichthyosis syndrome with other associated signs' 'Osteosclerosis - ichthyosis - premature ovarian failure' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 'Osteosclerosis - ichthyosis - premature ovarian failure' SubClassOf 'Non-acquired premature ovarian failure' 'Osteosclerosis - ichthyosis - premature ovarian failure' SubClassOf 'Primary bone dysplasia with increased bone density' 'Osteosclerosis - ichthyosis - premature ovarian failure' SubClassOf 'Rare female infertility due to an anomaly of ovarian function of genetic origin' http://www.orpha.net/ORDO/Orphanet_329324 Inverse Klippel-Trénaunay syndrome 'Inverse Klippel-Trénaunay syndrome' SubClassOf 'Congenital vascular bone syndrome' 'Inverse Klippel-Trénaunay syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018718 'Inverse Klippel-Trénaunay syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024499 'Inverse Klippel-Trénaunay syndrome' SubClassOf 'Congenital vascular bone syndrome' http://www.orpha.net/ORDO/Orphanet_88628 Posterior column ataxia - retinitis pigmentosa 'Posterior column ataxia - retinitis pigmentosa' SubClassOf 'Autosomal recessive degenerative and progressive cerebellar ataxia' 'Posterior column ataxia - retinitis pigmentosa' SubClassOf 'Autosomal recessive degenerative and progressive cerebellar ataxia' http://purl.obolibrary.org/obo/CHEBI_3650 chlorpropamide 'chlorpropamide' SubClassOf 'has_role' some 'drug role' http://www.orpha.net/ORDO/Orphanet_99330 49,XYYYY syndrome '49,XYYYY syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' '49,XYYYY syndrome' SubClassOf 'Y chromosome number anomaly' '49,XYYYY syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' '49,XYYYY syndrome' SubClassOf 'Y chromosome number anomaly' http://www.orpha.net/ORDO/Orphanet_88629 Tritanopia 'Tritanopia' SubClassOf 'Color-vision disease' 'Tritanopia' SubClassOf 'Color-vision disease' http://purl.obolibrary.org/obo/CLO_0014896 GM17102 'GM17102' SubClassOf 'has_quality' some 'male' 'GM17102' SubClassOf 'cultured cell' 'GM17102' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/CLO_0014898 GM17103 'GM17103' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17103' SubClassOf 'has_quality' some 'male' 'GM17103' SubClassOf 'cultured cell' http://www.orpha.net/ORDO/Orphanet_295152 Polydactyly of an index finger, unilateral 'Polydactyly of an index finger, unilateral' SubClassOf 'Polydactyly of an index finger' 'Polydactyly of an index finger, unilateral' SubClassOf 'Polydactyly of an index finger' http://www.orpha.net/ORDO/Orphanet_295150 Polydactyly of a triphalangeal thumb, bilateral 'Polydactyly of a triphalangeal thumb, bilateral' SubClassOf 'Polydactyly of a triphalangeal thumb' 'Polydactyly of a triphalangeal thumb, bilateral' SubClassOf 'Polydactyly of a triphalangeal thumb' http://www.orpha.net/ORDO/Orphanet_88621 Ichthyosis prematurity syndrome 'Ichthyosis prematurity syndrome' SubClassOf 'Autosomal ichthyosis syndrome with other associated signs' 'Ichthyosis prematurity syndrome' SubClassOf 'Autosomal ichthyosis syndrome with other associated signs' 'Ichthyosis prematurity syndrome' SubClassOf 'pneumonitis' http://purl.obolibrary.org/obo/UBERON_2001063 posterior caudal vein 'posterior caudal vein' SubClassOf http://purl.obolibrary.org/obo/UBERON_0003481 http://www.orpha.net/ORDO/Orphanet_356996 Intellectual disability - hypotonia - spasticity - sleep disorder 'Intellectual disability - hypotonia - spasticity - sleep disorder' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Intellectual disability - hypotonia - spasticity - sleep disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 http://www.orpha.net/ORDO/Orphanet_295154 Polydactyly of an index finger, bilateral 'Polydactyly of an index finger, bilateral' SubClassOf 'Polydactyly of an index finger' 'Polydactyly of an index finger, bilateral' SubClassOf 'Polydactyly of an index finger' http://www.orpha.net/ORDO/Orphanet_295159 Polysyndactyly, unilateral 'Polysyndactyly, unilateral' SubClassOf 'Polysyndactyly' 'Polysyndactyly, unilateral' SubClassOf 'Polysyndactyly' http://www.orpha.net/ORDO/Orphanet_49042 Dentinogenesis imperfecta 'Dentinogenesis imperfecta' SubClassOf 'Hereditary dentin defect' 'Dentinogenesis imperfecta' SubClassOf 'tooth disease' 'Dentinogenesis imperfecta' SubClassOf 'Hereditary dentin defect' http://www.orpha.net/ORDO/Orphanet_329314 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency 'Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency' SubClassOf 'Multiple mitochondrial DNA deletion syndrome' 'Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency' SubClassOf 'Mitochondrial myopathy' 'Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency' SubClassOf 'Multiple mitochondrial DNA deletion syndrome' 'Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000090 http://www.orpha.net/ORDO/Orphanet_88616 Autosomal recessive non-syndromic intellectual disability 'Autosomal recessive non-syndromic intellectual disability' SubClassOf 'autosomal recessive disease' 'Autosomal recessive non-syndromic intellectual disability' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000509 http://www.orpha.net/ORDO/Orphanet_88619 Familial acute necrotizing encephalopathy 'Familial acute necrotizing encephalopathy' SubClassOf 'Rare genetic neurological disorder' 'Familial acute necrotizing encephalopathy' SubClassOf 'Rare genetic neurological disorder' 'Familial acute necrotizing encephalopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000166 http://www.orpha.net/ORDO/Orphanet_329319 Hereditary thrombocytosis with transverse limb defect 'Hereditary thrombocytosis with transverse limb defect' SubClassOf 'Rare thrombotic disorder due to a constitutional platelet anomaly' 'Hereditary thrombocytosis with transverse limb defect' SubClassOf 'Genetic syndrome with limb reduction defects' 'Hereditary thrombocytosis with transverse limb defect' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' 'Hereditary thrombocytosis with transverse limb defect' SubClassOf 'Rare thrombotic disorder due to a constitutional platelet anomaly' 'Hereditary thrombocytosis with transverse limb defect' SubClassOf 'Genetic syndrome with limb reduction defects' 'Hereditary thrombocytosis with transverse limb defect' SubClassOf http://purl.obolibrary.org/obo/MONDO_0009332 http://www.orpha.net/ORDO/Orphanet_88618 Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency 'Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency' SubClassOf 'Disorder of methionine cycle and sulfur amino acid metabolism' 'Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency' SubClassOf 'Cerebral organic aciduria' 'Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000351 http://purl.obolibrary.org/obo/CHEBI_27905 phenyl hydrogen sulfate 'phenyl hydrogen sulfate' SubClassOf 'chemical entity' 'phenyl hydrogen sulfate' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency 'Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency' SubClassOf 'Glycogen storage disease due to lactate dehydrogenase deficiency' 'Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency' SubClassOf 'Muscular glycogenosis' 'Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency' SubClassOf 'Glycogen storage disease due to lactate dehydrogenase deficiency' 'Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency' SubClassOf 'Muscular glycogenosis' http://www.orpha.net/ORDO/Orphanet_306661 familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome 'familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome' SubClassOf 'Genetic skin tumor' 'familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome' SubClassOf 'Rare genetic parathyroid disease and phosphocalcic metabolism disorder' 'familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019061 'familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002123 'familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021360 http://www.orpha.net/ORDO/Orphanet_101111 Spinocerebellar ataxia type 25 'Spinocerebellar ataxia type 25' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' 'Spinocerebellar ataxia type 25' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' http://www.orpha.net/ORDO/Orphanet_101112 Spinocerebellar ataxia type 26 'Spinocerebellar ataxia type 26' SubClassOf 'Autosomal dominant cerebellar ataxia type 3' 'Spinocerebellar ataxia type 26' SubClassOf 'Autosomal dominant cerebellar ataxia type 3' http://www.orpha.net/ORDO/Orphanet_101110 Spinocerebellar ataxia type 20 'Spinocerebellar ataxia type 20' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' 'Spinocerebellar ataxia type 20' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' http://purl.obolibrary.org/obo/HP_0007716 Intraocular melanoma 'Intraocular melanoma' SubClassOf 'Abnormality of the eye' 'Intraocular melanoma' SubClassOf 'Abnormality of the eye' http://purl.obolibrary.org/obo/NCBITaxon_33208 Metazoa 'Metazoa' SubClassOf 'Opisthokonta' 'Metazoa' SubClassOf 'Opisthokonta' http://dbpedia.org/resource/United_States United States 'United States' SubClassOf 'country' 'United States' SubClassOf 'country' http://www.orpha.net/ORDO/Orphanet_75389 Brain malformation - congenital heart disease - postaxial polydactyly 'Brain malformation - congenital heart disease - postaxial polydactyly' SubClassOf 'Rare syndrome with cardiac malformations' 'Brain malformation - congenital heart disease - postaxial polydactyly' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Brain malformation - congenital heart disease - postaxial polydactyly' SubClassOf 'Rare syndrome with cardiac malformations' 'Brain malformation - congenital heart disease - postaxial polydactyly' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Brain malformation - congenital heart disease - postaxial polydactyly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Brain malformation - congenital heart disease - postaxial polydactyly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 http://www.orpha.net/ORDO/Orphanet_307995 Marginal papular palmoplantar keratoderma 'Marginal papular palmoplantar keratoderma' SubClassOf 'Isolated punctate palmoplantar keratoderma' 'Marginal papular palmoplantar keratoderma' SubClassOf 'Isolated punctate palmoplantar keratoderma' http://www.orpha.net/ORDO/Orphanet_284435 Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency 'Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency' SubClassOf 'Glycogen storage disease due to lactate dehydrogenase deficiency' 'Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency' SubClassOf 'Glycogen storage disease due to lactate dehydrogenase deficiency' http://www.orpha.net/ORDO/Orphanet_306669 Hemiparkinsonism-hemiatrophy syndrome 'Hemiparkinsonism-hemiatrophy syndrome' SubClassOf 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' 'Hemiparkinsonism-hemiatrophy syndrome' SubClassOf 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_75382 Oguchi disease 'Oguchi disease' SubClassOf 'Retinal dystrophy' 'Oguchi disease' SubClassOf 'Congenital stationary night blindness' http://www.orpha.net/ORDO/Orphanet_75381 Cystoid macular dystrophy 'Cystoid macular dystrophy' SubClassOf 'Unclassified primitive or secondary maculopathy' 'Cystoid macular dystrophy' SubClassOf 'Unclassified primitive or secondary maculopathy' 'Cystoid macular dystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003005 http://www.orpha.net/ORDO/Orphanet_329308 Fatty acid hydroxylase-associated neurodegeneration 'Fatty acid hydroxylase-associated neurodegeneration' SubClassOf 'Neurodegeneration with brain iron accumulation' 'Fatty acid hydroxylase-associated neurodegeneration' SubClassOf 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement' 'Fatty acid hydroxylase-associated neurodegeneration' SubClassOf 'Neurodegeneration with brain iron accumulation' 'Fatty acid hydroxylase-associated neurodegeneration' SubClassOf 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement' 'Fatty acid hydroxylase-associated neurodegeneration' SubClassOf 'Autosomal recessive complex spastic paraplegia' 'Fatty acid hydroxylase-associated neurodegeneration' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004884 'Fatty acid hydroxylase-associated neurodegeneration' SubClassOf 'Rare syndromic dyslipidemia' 'Fatty acid hydroxylase-associated neurodegeneration' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018609 'Fatty acid hydroxylase-associated neurodegeneration' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001835 http://www.orpha.net/ORDO/Orphanet_75376 Familial drusen 'Familial drusen' SubClassOf 'Disease predisposing to age-related macular degeneration' 'Familial drusen' SubClassOf 'Familial flecked retinopathy' 'Familial drusen' SubClassOf 'retinal drusen' 'Familial drusen' SubClassOf 'Disease predisposing to age-related macular degeneration' 'Familial drusen' SubClassOf 'Familial flecked retinopathy' http://www.orpha.net/ORDO/Orphanet_75374 Bradyopsia 'Bradyopsia' SubClassOf 'Genetic vitreous-retinal disease' 'Bradyopsia' SubClassOf 'Genetic vitreous-retinal disease' http://www.orpha.net/ORDO/Orphanet_75373 Progressive bifocal chorioretinal atrophy 'Progressive bifocal chorioretinal atrophy' SubClassOf 'Retinal dystrophy' 'Progressive bifocal chorioretinal atrophy' SubClassOf 'Retinal dystrophy' http://www.orpha.net/ORDO/Orphanet_75378 Oligocone trichromacy 'Oligocone trichromacy' SubClassOf 'Retinal dystrophy' 'Oligocone trichromacy' SubClassOf 'Retinal dystrophy' http://www.orpha.net/ORDO/Orphanet_75377 Central areolar choroidal dystrophy 'Central areolar choroidal dystrophy' SubClassOf 'Colobomatous and areolar dystrophy' 'Central areolar choroidal dystrophy' SubClassOf 'Colobomatous and areolar dystrophy' 'Central areolar choroidal dystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001898 http://www.orpha.net/ORDO/Orphanet_306674 Kufor-Rakeb syndrome 'Kufor-Rakeb syndrome' SubClassOf 'Abnormal eye movements' 'Kufor-Rakeb syndrome' SubClassOf 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' 'Kufor-Rakeb syndrome' SubClassOf 'Neurodegeneration with brain iron accumulation' 'Kufor-Rakeb syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000828 'Kufor-Rakeb syndrome' SubClassOf 'Abnormal eye movements' 'Kufor-Rakeb syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004884 'Kufor-Rakeb syndrome' SubClassOf 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' 'Kufor-Rakeb syndrome' SubClassOf 'Neurodegeneration with brain iron accumulation' http://www.orpha.net/ORDO/Orphanet_295101 Acheiria, unilateral 'Acheiria, unilateral' SubClassOf 'Acheiria' 'Acheiria, unilateral' SubClassOf 'Acheiria' http://www.orpha.net/ORDO/Orphanet_295105 Apodia, unilateral 'Apodia, unilateral' SubClassOf 'Apodia' 'Apodia, unilateral' SubClassOf 'Apodia' http://www.orpha.net/ORDO/Orphanet_295103 Acheiria, bilateral 'Acheiria, bilateral' SubClassOf 'Acheiria' 'Acheiria, bilateral' SubClassOf 'Acheiria' http://purl.obolibrary.org/obo/CHEBI_3614 chlorhexidine 'chlorhexidine' SubClassOf 'has_role' some 'drug role' 'chlorhexidine' SubClassOf 'has_role' some 'antibacterial drug' http://www.orpha.net/ORDO/Orphanet_101108 Spinocerebellar ataxia type 23 'Spinocerebellar ataxia type 23' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' 'Spinocerebellar ataxia type 23' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' http://www.orpha.net/ORDO/Orphanet_101109 Spinocerebellar ataxia type 28 'Spinocerebellar ataxia type 28' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Spinocerebellar ataxia type 28' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' 'Spinocerebellar ataxia type 28' SubClassOf 'Metabolic disease with dementia' 'Spinocerebellar ataxia type 28' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Spinocerebellar ataxia type 28' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' http://www.orpha.net/ORDO/Orphanet_88661 Amelogenesis imperfecta 'Amelogenesis imperfecta' SubClassOf 'Rare odontal or periodontal disorder' 'Amelogenesis imperfecta' SubClassOf 'Rare odontal or periodontal disorder' 'Amelogenesis imperfecta' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018488 'Amelogenesis imperfecta' SubClassOf 'Dental enamel hypoplasia' http://www.orpha.net/ORDO/Orphanet_101104 Marin-Amat syndrome 'Marin-Amat syndrome' SubClassOf 'Marcus-Gunn syndrome' 'Marin-Amat syndrome' SubClassOf 'Marcus-Gunn syndrome' http://www.orpha.net/ORDO/Orphanet_101102 Charcot-Marie-Tooth disease type 2H 'Charcot-Marie-Tooth disease type 2H' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019601 'Charcot-Marie-Tooth disease type 2H' SubClassOf 'Autosomal dominant Charcot-Marie-Tooth disease type 2' http://www.orpha.net/ORDO/Orphanet_295112 Congenital absence/hypoplasia of thumb, bilateral 'Congenital absence/hypoplasia of thumb, bilateral' SubClassOf 'Congenital absence/hypoplasia of thumb' 'Congenital absence/hypoplasia of thumb, bilateral' SubClassOf 'Congenital absence/hypoplasia of thumb' http://www.orpha.net/ORDO/Orphanet_101101 Charcot-Marie-Tooth disease type 2B2 'Charcot-Marie-Tooth disease type 2B2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019601 'Charcot-Marie-Tooth disease type 2B2' SubClassOf 'Autosomal dominant Charcot-Marie-Tooth disease type 2' http://www.orpha.net/ORDO/Orphanet_295110 Congenital absence/hypoplasia of thumb, unilateral 'Congenital absence/hypoplasia of thumb, unilateral' SubClassOf 'Congenital absence/hypoplasia of thumb' 'Congenital absence/hypoplasia of thumb, unilateral' SubClassOf 'Congenital absence/hypoplasia of thumb' http://www.orpha.net/ORDO/Orphanet_295116 Adactyly of foot, unilateral 'Adactyly of foot, unilateral' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018563 http://www.orpha.net/ORDO/Orphanet_88660 Pseudohyperaldosteronism type 2 'Pseudohyperaldosteronism type 2' SubClassOf 'Genetic hypertension' 'Pseudohyperaldosteronism type 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024664 'Pseudohyperaldosteronism type 2' SubClassOf 'Genetic hypertension' http://www.orpha.net/ORDO/Orphanet_295114 Congenital absence/hypoplasia of fingers excluding thumb, bilateral 'Congenital absence/hypoplasia of fingers excluding thumb, bilateral' SubClassOf 'Congenital absence/hypoplasia of fingers excluding thumb' 'Congenital absence/hypoplasia of fingers excluding thumb, bilateral' SubClassOf 'Congenital absence/hypoplasia of fingers excluding thumb' http://purl.obolibrary.org/obo/CHEBI_15930 atrazine 'atrazine' SubClassOf 'has_role' some 'agrochemical role' http://purl.obolibrary.org/obo/CHEBI_4953 exemestane 'exemestane' SubClassOf 'has_role' some 'antineoplastic agent' http://purl.obolibrary.org/obo/CHEBI_15929 methyl (-)-jasmonate 'methyl (-)-jasmonate' SubClassOf 'has_role' some 'hormone role' http://www.orpha.net/ORDO/Orphanet_295107 Apodia, bilateral 'Apodia, bilateral' SubClassOf 'Apodia' 'Apodia, bilateral' SubClassOf 'Apodia' http://www.orpha.net/ORDO/Orphanet_88659 Autosomal dominant progressive nephropathy with hypertension 'Autosomal dominant progressive nephropathy with hypertension' SubClassOf 'Genetic hypertension' 'Autosomal dominant progressive nephropathy with hypertension' SubClassOf 'Genetic hypertension' http://purl.obolibrary.org/obo/CHEBI_27902 tetracycline 'tetracycline' SubClassOf 'has_role' some 'antimicrobial agent' http://www.orpha.net/ORDO/Orphanet_210163 Congenital lethal myopathy, Compton-North type 'Congenital lethal myopathy, Compton-North type' SubClassOf 'Congenital myopathy' 'Congenital lethal myopathy, Compton-North type' SubClassOf 'Congenital myopathy' http://www.orpha.net/ORDO/Orphanet_98074 Gonadal dysgenesis of gynecological interest 'Gonadal dysgenesis of gynecological interest' SubClassOf 'Genetic disorder of sex development of gynecological interest' 'Gonadal dysgenesis of gynecological interest' SubClassOf 'Genetic disorder of sex development of gynecological interest' http://www.orpha.net/ORDO/Orphanet_284408 Glycerol kinase deficiency, infantile form 'Glycerol kinase deficiency, infantile form' SubClassOf 'Syndromic neurometabolic disease with X-linked intellectual disability' 'Glycerol kinase deficiency, infantile form' SubClassOf 'Glycerol kinase deficiency' 'Glycerol kinase deficiency, infantile form' SubClassOf 'Syndromic neurometabolic disease with X-linked intellectual disability' http://purl.obolibrary.org/obo/CHEBI_15901 5,6-dihydrouracil '5,6-dihydrouracil' SubClassOf 'chemical entity' '5,6-dihydrouracil' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_209182 Qualitative or quantitative defects of nebulin 'Qualitative or quantitative defects of nebulin' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' 'Qualitative or quantitative defects of nebulin' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' http://www.orpha.net/ORDO/Orphanet_284411 Glycerol kinase deficiency, juvenile form 'Glycerol kinase deficiency, juvenile form' SubClassOf 'Isolated glycerol kinase deficiency' 'Glycerol kinase deficiency, juvenile form' SubClassOf 'Isolated glycerol kinase deficiency' http://www.orpha.net/ORDO/Orphanet_209188 Qualitative or quantitative defects of emerin 'Qualitative or quantitative defects of emerin' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' 'Qualitative or quantitative defects of emerin' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' http://www.orpha.net/ORDO/Orphanet_209185 Qualitative or quantitative defects of beta-myosin heavy chain (MYH7) 'Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' 'Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' http://www.orpha.net/ORDO/Orphanet_98087 Syndrome with 46,XY disorder of sex development 'Syndrome with 46,XY disorder of sex development' SubClassOf 'Genetic 46,XY disorder of sex development' 'Syndrome with 46,XY disorder of sex development' SubClassOf 'Genetic 46,XY disorder of sex development' http://www.orpha.net/ORDO/Orphanet_98086 46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue '46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue' SubClassOf '46,XY disorder of sex development of gynecological interest' '46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue' SubClassOf '46,XY disorder of sex development due to impaired androgen production' '46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue' SubClassOf '46,XY disorder of sex development of gynecological interest' '46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue' SubClassOf '46,XY disorder of sex development due to impaired androgen production' http://www.orpha.net/ORDO/Orphanet_284414 Glycerol kinase deficiency, adult form 'Glycerol kinase deficiency, adult form' SubClassOf 'Isolated glycerol kinase deficiency' 'Glycerol kinase deficiency, adult form' SubClassOf 'Isolated glycerol kinase deficiency' http://www.orpha.net/ORDO/Orphanet_284417 Phosphoserine aminotransferase deficiency 'Phosphoserine aminotransferase deficiency' SubClassOf 'Neurometabolic disorder due to serine deficiency' 'Phosphoserine aminotransferase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Phosphoserine aminotransferase deficiency' SubClassOf 'Neurometabolic disorder due to serine deficiency' http://www.orpha.net/ORDO/Orphanet_98099 Autosomal recessive syndromic cerebellar ataxia 'Autosomal recessive syndromic cerebellar ataxia' SubClassOf 'Autosomal recessive cerebellar ataxia' 'Autosomal recessive syndromic cerebellar ataxia' SubClassOf 'Autosomal recessive cerebellar ataxia' http://www.orpha.net/ORDO/Orphanet_209193 Qualitative or quantitative defects of selenoprotein N1 'Qualitative or quantitative defects of selenoprotein N1' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' 'Qualitative or quantitative defects of selenoprotein N1' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' http://purl.obolibrary.org/obo/CHEBI_4911 etoposide 'etoposide' SubClassOf 'has_role' some 'antineoplastic agent' http://purl.obolibrary.org/obo/CLO_0014806 GM02767 'GM02767' SubClassOf 'derives_from' some ('fibroblast' and ('part_of' some ('organism part' and ('part_of' some 'Homo sapiens')))) 'GM02767' SubClassOf 'has_quality' some 'female' 'GM02767' SubClassOf 'cultured cell' http://www.orpha.net/ORDO/Orphanet_209199 Qualitative or quantitative defects of protein SERCA1 'Qualitative or quantitative defects of protein SERCA1' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' 'Qualitative or quantitative defects of protein SERCA1' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' http://www.orpha.net/ORDO/Orphanet_98096 Autosomal recessive metabolic cerebellar ataxia 'Autosomal recessive metabolic cerebellar ataxia' SubClassOf 'Autosomal recessive cerebellar ataxia' 'Autosomal recessive metabolic cerebellar ataxia' SubClassOf 'Autosomal recessive cerebellar ataxia' http://www.orpha.net/ORDO/Orphanet_209196 Qualitative or quantitative defects of plectin 'Qualitative or quantitative defects of plectin' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' 'Qualitative or quantitative defects of plectin' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' http://www.orpha.net/ORDO/Orphanet_98095 Autosomal recessive congenital cerebellar ataxia 'Autosomal recessive congenital cerebellar ataxia' SubClassOf 'Autosomal recessive cerebellar ataxia' 'Autosomal recessive congenital cerebellar ataxia' SubClassOf 'Autosomal recessive cerebellar ataxia' http://www.orpha.net/ORDO/Orphanet_98098 Autosomal recessive degenerative and progressive cerebellar ataxia 'Autosomal recessive degenerative and progressive cerebellar ataxia' SubClassOf 'Autosomal recessive cerebellar ataxia' 'Autosomal recessive degenerative and progressive cerebellar ataxia' SubClassOf 'Autosomal recessive cerebellar ataxia' http://www.orpha.net/ORDO/Orphanet_75392 Ehlers-Danlos syndrome, periodontitis type 'Ehlers-Danlos syndrome, periodontitis type' SubClassOf 'Ehlers-Danlos syndrome' 'Ehlers-Danlos syndrome, periodontitis type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020014 'Ehlers-Danlos syndrome, periodontitis type' SubClassOf 'Ehlers-Danlos syndrome' http://www.orpha.net/ORDO/Orphanet_98097 Autosomal recessive cerebellar ataxia due to a DNA repair defect 'Autosomal recessive cerebellar ataxia due to a DNA repair defect' SubClassOf 'Autosomal recessive cerebellar ataxia' 'Autosomal recessive cerebellar ataxia due to a DNA repair defect' SubClassOf 'Autosomal recessive cerebellar ataxia' 'Autosomal recessive cerebellar ataxia due to a DNA repair defect' SubClassOf 'Metabolic disease with dementia' 'Autosomal recessive cerebellar ataxia due to a DNA repair defect' SubClassOf 'Developmental anomaly of metabolic origin' 'Autosomal recessive cerebellar ataxia due to a DNA repair defect' SubClassOf 'DNA repair deficiency' http://www.orpha.net/ORDO/Orphanet_75391 Immunodeficiency with natural-killer cell deficiency and adrenal insufficiency 'Immunodeficiency with natural-killer cell deficiency and adrenal insufficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018035 'Immunodeficiency with natural-killer cell deficiency and adrenal insufficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021094 http://www.ebi.ac.uk/efo/EFO_0008610 ocular cicatricial pemphigoid 'ocular cicatricial pemphigoid' SubClassOf 'mucous membrane pemphigoid' 'ocular cicatricial pemphigoid' SubClassOf 'mucous membrane pemphigoid' http://www.ebi.ac.uk/efo/EFO_0008611 localised cicatricial pemphigoid 'localised cicatricial pemphigoid' SubClassOf 'mucous membrane pemphigoid' 'localised cicatricial pemphigoid' SubClassOf 'mucous membrane pemphigoid' http://www.ebi.ac.uk/efo/EFO_0008618 Medullary Cystic Kidney Disease Type II 'Medullary Cystic Kidney Disease Type II' SubClassOf 'Cystic Kidney Disease' 'Medullary Cystic Kidney Disease Type II' SubClassOf 'Autosomal dominant medullary cystic kidney disease with or without hyperuricemia' http://www.ebi.ac.uk/efo/EFO_0008612 vegetating cicatricial pemphigoid 'vegetating cicatricial pemphigoid' SubClassOf 'mucous membrane pemphigoid' 'vegetating cicatricial pemphigoid' SubClassOf 'mucous membrane pemphigoid' http://www.ebi.ac.uk/efo/EFO_0008613 pemphigus vegetans 'pemphigus vegetans' SubClassOf 'pemphigus vulgaris' 'pemphigus vegetans' SubClassOf 'pemphigus vulgaris' http://www.ebi.ac.uk/efo/EFO_0008615 Cystic Kidney Disease 'Cystic Kidney Disease' SubClassOf 'kidney disease' 'Cystic Kidney Disease' SubClassOf 'kidney disease' http://www.orpha.net/ORDO/Orphanet_261796 Partial deletion of chromosome 7 'Partial deletion of chromosome 7' SubClassOf 'Partial autosomal monosomy' 'Partial deletion of chromosome 7' SubClassOf 'Partial autosomal monosomy' http://www.orpha.net/ORDO/Orphanet_261791 Partial deletion of chromosome 6 'Partial deletion of chromosome 6' SubClassOf 'Partial autosomal monosomy' 'Partial deletion of chromosome 6' SubClassOf 'Partial autosomal monosomy' http://www.orpha.net/ORDO/Orphanet_261776 Partial deletion of chromosome 3 'Partial deletion of chromosome 3' SubClassOf 'Partial autosomal monosomy' 'Partial deletion of chromosome 3' SubClassOf 'Partial autosomal monosomy' http://www.ebi.ac.uk/efo/EFO_0008605 IgG/IgA pemphigus 'IgG/IgA pemphigus' SubClassOf 'pemphigus' 'IgG/IgA pemphigus' SubClassOf 'pemphigus' http://www.ebi.ac.uk/efo/EFO_0008606 pemphigus herpetiformis 'pemphigus herpetiformis' SubClassOf 'pemphigus' 'pemphigus herpetiformis' SubClassOf 'pemphigus' http://www.ebi.ac.uk/efo/EFO_0008607 drug-induced pemphigus 'drug-induced pemphigus' SubClassOf 'pemphigus' 'drug-induced pemphigus' SubClassOf 'pemphigus' http://www.ebi.ac.uk/efo/EFO_0008608 radiotherapy-induced pemphigus 'radiotherapy-induced pemphigus' SubClassOf 'pemphigus' 'radiotherapy-induced pemphigus' SubClassOf 'pemphigus' http://www.ebi.ac.uk/efo/EFO_0008601 pemphigus foliaceus 'pemphigus foliaceus' SubClassOf 'pemphigus' 'pemphigus foliaceus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018745 'pemphigus foliaceus' SubClassOf 'pemphigus' http://www.ebi.ac.uk/efo/EFO_0008602 paraneoplastic pemphigus 'paraneoplastic pemphigus' SubClassOf 'pemphigus' 'paraneoplastic pemphigus' SubClassOf 'autoimmune bullous skin disease' 'paraneoplastic pemphigus' SubClassOf 'pemphigus' 'paraneoplastic pemphigus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021073 http://www.ebi.ac.uk/efo/EFO_0008603 pemphigus erythematosus 'pemphigus erythematosus' SubClassOf 'pemphigus' 'pemphigus erythematosus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018745 'pemphigus erythematosus' SubClassOf 'pemphigus' http://www.ebi.ac.uk/efo/EFO_0008604 IgA pemphigus 'IgA pemphigus' SubClassOf 'pemphigus' 'IgA pemphigus' SubClassOf 'pemphigus' http://www.orpha.net/ORDO/Orphanet_199351 Adult-onset dystonia-parkinsonism 'Adult-onset dystonia-parkinsonism' SubClassOf 'PLA2G6-associated neurodegeneration' 'Adult-onset dystonia-parkinsonism' SubClassOf 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' 'Adult-onset dystonia-parkinsonism' SubClassOf 'Persistent combined dystonia' 'Adult-onset dystonia-parkinsonism' SubClassOf 'Hereditary late-onset Parkinson disease' 'Adult-onset dystonia-parkinsonism' SubClassOf 'PLA2G6-associated neurodegeneration' 'Adult-onset dystonia-parkinsonism' SubClassOf 'Persistent combined dystonia' http://www.orpha.net/ORDO/Orphanet_199354 CARASIL 'CARASIL' SubClassOf 'Genetic central nervous system and retinal vascular disease' 'CARASIL' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018831 http://www.orpha.net/ORDO/Orphanet_261786 Partial deletion of chromosome 5 'Partial deletion of chromosome 5' SubClassOf 'Partial autosomal monosomy' 'Partial deletion of chromosome 5' SubClassOf 'Partial autosomal monosomy' http://www.orpha.net/ORDO/Orphanet_99361 Familial medullary thyroid carcinoma 'Familial medullary thyroid carcinoma' SubClassOf 'Multiple endocrine neoplasia type 2' 'Familial medullary thyroid carcinoma' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0015277 and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) 'Familial medullary thyroid carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015277 'Familial medullary thyroid carcinoma' SubClassOf 'Multiple endocrine neoplasia type 2' 'Familial medullary thyroid carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0025511 http://www.orpha.net/ORDO/Orphanet_261781 Partial deletion of chromosome 4 'Partial deletion of chromosome 4' SubClassOf 'Partial autosomal monosomy' 'Partial deletion of chromosome 4' SubClassOf 'Partial autosomal monosomy' http://www.ebi.ac.uk/efo/EFO_0007302 hepatic tuberculosis 'hepatic tuberculosis' SubClassOf 'gastrointestinal tuberculosis' 'hepatic tuberculosis' SubClassOf 'gastrointestinal tuberculosis' 'hepatic tuberculosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000369 'hepatic tuberculosis' SubClassOf 'endocrine tuberculosis' 'hepatic tuberculosis' SubClassOf 'has_disease_location' some ('liver' or ('part_of' some 'liver')) http://www.ebi.ac.uk/efo/EFO_0007301 Hepadnaviridae infectious disease 'Hepadnaviridae infectious disease' SubClassOf 'viral disease' 'Hepadnaviridae infectious disease' SubClassOf 'viral disease' http://www.ebi.ac.uk/efo/EFO_0007300 Henipavirus infectious disease 'Henipavirus infectious disease' SubClassOf 'viral disease' 'Henipavirus infectious disease' SubClassOf 'viral disease' 'Henipavirus infectious disease' SubClassOf 'Paramyxoviridae infectious disease' http://www.orpha.net/ORDO/Orphanet_261766 Partial deletion of chromosome 1 'Partial deletion of chromosome 1' SubClassOf 'Partial autosomal monosomy' 'Partial deletion of chromosome 1' SubClassOf 'Partial autosomal monosomy' http://purl.obolibrary.org/obo/NCBITaxon_1324865 Brassica carinata x Brassica rapa 'Brassica carinata x Brassica rapa' SubClassOf 'Viridiplantae' 'Brassica carinata x Brassica rapa' SubClassOf 'Viridiplantae' http://www.ebi.ac.uk/efo/EFO_0007306 herpangina 'herpangina' SubClassOf 'viral disease' 'herpangina' SubClassOf 'has_disease_location' some ('mouth' or ('part_of' some 'mouth')) 'herpangina' SubClassOf 'coxsackievirus infectious disease' 'herpangina' SubClassOf 'viral disease' http://www.ebi.ac.uk/efo/EFO_0008638 2b-RAD '2b-RAD' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0007305 hepatitis A 'hepatitis A' SubClassOf 'viral human hepatitis infection' 'hepatitis A' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024294 'hepatitis A' SubClassOf 'viral human hepatitis infection' 'hepatitis A' SubClassOf 'Picornaviridae infectious disease' http://www.ebi.ac.uk/efo/EFO_0008639 2P-Seq '2P-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://purl.obolibrary.org/obo/CHEBI_75568 1-monolinolein '1-monolinolein' SubClassOf 'lipid' '1-monolinolein' SubClassOf 'lipid' http://www.ebi.ac.uk/efo/EFO_0007304 hepatitis D 'hepatitis D' SubClassOf 'viral human hepatitis infection' 'hepatitis D' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021674 'hepatitis D' SubClassOf http://purl.obolibrary.org/obo/RO_0004022 some 'hepatitis B infection' 'hepatitis D' SubClassOf 'hepatitis B infection' 'hepatitis D' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'hepatitis D' SubClassOf 'viral human hepatitis infection' http://purl.obolibrary.org/obo/UBERON_6005037 tracheal primordium 'tracheal primordium' SubClassOf 'embryonic structure' 'tracheal primordium' SubClassOf 'primordium' http://www.ebi.ac.uk/efo/EFO_0007303 hepatitis E 'hepatitis E' SubClassOf 'viral human hepatitis infection' 'hepatitis E' SubClassOf 'viral human hepatitis infection' 'hepatitis E' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024294 http://www.ebi.ac.uk/efo/EFO_0007309 Herpesviridae infectious disease 'Herpesviridae infectious disease' SubClassOf 'viral disease' 'Herpesviridae infectious disease' SubClassOf 'viral disease' http://www.ebi.ac.uk/efo/EFO_0007308 Herpes simplex virus keratitis 'Herpes simplex virus keratitis' SubClassOf 'Herpes simplex infection' 'Herpes simplex virus keratitis' SubClassOf 'keratitis' 'Herpes simplex virus keratitis' SubClassOf 'has_disease_location' some ('cornea' or ('part_of' some 'cornea')) 'Herpes simplex virus keratitis' SubClassOf 'Herpes simplex infection' 'Herpes simplex virus keratitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004609 'Herpes simplex virus keratitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023865 'Herpes simplex virus keratitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020950 http://www.ebi.ac.uk/efo/EFO_0007307 Herpes simplex virus gingivostomatitis 'Herpes simplex virus gingivostomatitis' SubClassOf 'Herpes simplex infection' 'Herpes simplex virus gingivostomatitis' SubClassOf 'stomatitis' 'Herpes simplex virus gingivostomatitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004609 'Herpes simplex virus gingivostomatitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043424 'Herpes simplex virus gingivostomatitis' SubClassOf 'Herpes simplex infection' http://www.orpha.net/ORDO/Orphanet_356947 3q26q27 microdeletion syndrome '3q26q27 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 3' '3q26q27 microdeletion syndrome' SubClassOf 'Partial deletion of the long arm of chromosome 3' http://www.orpha.net/ORDO/Orphanet_199343 EAST syndrome 'EAST syndrome' SubClassOf 'Syndromic genetic deafness' 'EAST syndrome' SubClassOf 'Genetic renal tubular disease' 'EAST syndrome' SubClassOf 'Channelopathy with epilepsy' 'EAST syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'EAST syndrome' SubClassOf 'Syndromic genetic deafness' 'EAST syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019744 'EAST syndrome' SubClassOf 'Genetic renal tubular disease' 'EAST syndrome' SubClassOf 'hereditary ataxia' 'EAST syndrome' SubClassOf 'Channelopathy with epilepsy' http://purl.obolibrary.org/obo/HP_0006487 Bowing of the long bones 'Bowing of the long bones' SubClassOf 'abnormality of the skeletal system' 'Bowing of the long bones' SubClassOf 'abnormality of the skeletal system' http://www.orpha.net/ORDO/Orphanet_261771 Partial deletion of chromosome 2 'Partial deletion of chromosome 2' SubClassOf 'Partial autosomal monosomy' 'Partial deletion of chromosome 2' SubClassOf 'Partial autosomal monosomy' http://www.orpha.net/ORDO/Orphanet_199348 Thiamine-responsive encephalopathy 'Thiamine-responsive encephalopathy' SubClassOf 'Monogenic disease with epilepsy' 'Thiamine-responsive encephalopathy' SubClassOf 'Monogenic disease with epilepsy' 'Thiamine-responsive encephalopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015656 http://www.orpha.net/ORDO/Orphanet_199329 Congenital myopathy, Paradas type 'Congenital myopathy, Paradas type' SubClassOf 'Qualitative or quantitative defects of dysferlin' 'Congenital myopathy, Paradas type' SubClassOf 'Congenital muscular dystrophy' 'Congenital myopathy, Paradas type' SubClassOf 'Qualitative or quantitative defects of dysferlin' 'Congenital myopathy, Paradas type' SubClassOf 'Congenital muscular dystrophy' http://www.ebi.ac.uk/efo/EFO_0008622 female genital tract polyp 'female genital tract polyp' SubClassOf 'has_disease_location' some ('female reproductive system' or ('part_of' some 'female reproductive system')) http://www.ebi.ac.uk/efo/EFO_0008623 dysthymic disorder 'dysthymic disorder' SubClassOf 'mood disorder' 'dysthymic disorder' SubClassOf 'mood disorder' http://www.ebi.ac.uk/efo/EFO_0008624 vitreous body disease 'vitreous body disease' SubClassOf 'eye disease' 'vitreous body disease' SubClassOf 'connective tissue disease' 'vitreous body disease' SubClassOf 'eye disease' http://www.orpha.net/ORDO/Orphanet_98056 Rare genetic renal disease 'Rare genetic renal disease' SubClassOf 'has_disease_location' some 'renal system' http://www.orpha.net/ORDO/Orphanet_199332 Endocrine-cerebro-osteodysplasia syndrome 'Endocrine-cerebro-osteodysplasia syndrome' SubClassOf 'Dysostosis with limb and face anomalies as a major feature' 'Endocrine-cerebro-osteodysplasia syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome' 'Endocrine-cerebro-osteodysplasia syndrome' SubClassOf 'Dysostosis with limb and face anomalies as a major feature' 'Endocrine-cerebro-osteodysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043009 http://www.orpha.net/ORDO/Orphanet_199337 Pancreatic insufficiency - anemia - hyperostosis 'Pancreatic insufficiency - anemia - hyperostosis' SubClassOf 'Cleidocranial dysplasia and isolated cranial ossification defect' 'Pancreatic insufficiency - anemia - hyperostosis' SubClassOf 'Constitutional dyserythropoietic anemia' 'Pancreatic insufficiency - anemia - hyperostosis' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' 'Pancreatic insufficiency - anemia - hyperostosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001684 'Pancreatic insufficiency - anemia - hyperostosis' SubClassOf 'Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder' 'Pancreatic insufficiency - anemia - hyperostosis' SubClassOf 'Cleidocranial dysplasia and isolated cranial ossification defect' 'Pancreatic insufficiency - anemia - hyperostosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 'Pancreatic insufficiency - anemia - hyperostosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000577 'Pancreatic insufficiency - anemia - hyperostosis' SubClassOf 'Congenital dyserythropoietic anemia' 'Pancreatic insufficiency - anemia - hyperostosis' SubClassOf 'Isolated cytochrome C oxidase deficiency' 'Pancreatic insufficiency - anemia - hyperostosis' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' http://www.orpha.net/ORDO/Orphanet_98054 Rare genetic cardiac disease 'Rare genetic cardiac disease' SubClassOf 'has_disease_location' some 'cardiovascular system' http://www.ebi.ac.uk/efo/EFO_0006352 laryngeal squamous cell carcinoma 'laryngeal squamous cell carcinoma' SubClassOf 'head and neck squamous cell carcinoma' 'laryngeal squamous cell carcinoma' SubClassOf 'laryngeal neoplasm' 'laryngeal squamous cell carcinoma' SubClassOf 'head and neck squamous cell carcinoma' 'laryngeal squamous cell carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002358 'laryngeal squamous cell carcinoma' SubClassOf 'carcinoma' and ('has_disease_location' some ('larynx' or ('part_of' some 'larynx'))) http://purl.obolibrary.org/obo/GO_0044462 external encapsulating structure part 'external encapsulating structure part' SubClassOf 'part_of' some 'external encapsulating structure' 'external encapsulating structure part' EquivalentTo 'cellular component' and ('part_of' some 'external encapsulating structure') http://purl.obolibrary.org/obo/GO_0044464 cell part 'cell part' SubClassOf 'part_of' some 'cell' 'cell part' EquivalentTo 'cellular component' and ('part_of' some 'cell') http://www.ebi.ac.uk/efo/EFO_0006356 501A '501A' SubClassOf 'cultured cell' '501A' SubClassOf 'bearer_of' some 'melanoma' http://www.ebi.ac.uk/efo/EFO_0007687 microRNA profiling by RT-PCR 'microRNA profiling by RT-PCR' SubClassOf 'has_participant' some 'array' http://www.ebi.ac.uk/efo/EFO_0006355 143B '143B' SubClassOf 'cultured cell' '143B' SubClassOf 'derives_from' some ('osteoblast' and ('part_of' some ('bone' and ('part_of' some 'Homo sapiens')))) '143B' SubClassOf 'has_quality' some 'female' '143B' SubClassOf 'bearer_of' some 'osteosarcoma' http://www.ebi.ac.uk/efo/EFO_0006354 105KC '105KC' SubClassOf 'bearer_of' some 'chondrosarcoma' '105KC' SubClassOf 'derives_from' some ('chondrocyte' and ('part_of' some ('cartilage' and ('part_of' some 'Homo sapiens')))) '105KC' SubClassOf 'cultured cell' '105KC' SubClassOf 'has_quality' some 'male' http://www.ebi.ac.uk/efo/EFO_0006359 624 mel '624 mel' SubClassOf 'bearer_of' some 'melanoma' '624 mel' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0006358 59M '59M' SubClassOf 'cultured cell' '59M' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('female gonad' and ('part_of' some 'Homo sapiens')))) '59M' SubClassOf 'bearer_of' some 'ovarian carcinoma' '59M' SubClassOf 'has_quality' some 'female' http://www.ebi.ac.uk/efo/EFO_0007689 3C '3C' SubClassOf 'has_participant' some 'array' http://www.ebi.ac.uk/efo/EFO_0006357 537 MEL '537 MEL' SubClassOf 'cultured cell' '537 MEL' SubClassOf 'bearer_of' some 'melanoma' http://www.ebi.ac.uk/efo/EFO_0007690 4C '4C' SubClassOf 'has_participant' some 'array' http://www.ebi.ac.uk/efo/EFO_0006341 transferrin measurement 'transferrin measurement' SubClassOf 'is_about' some 'protein' 'transferrin measurement' SubClassOf 'is_about' some ('iron' and ('has_role' some 'biomarker')) http://www.ebi.ac.uk/efo/EFO_0006345 response to phenytoin 'response to phenytoin' SubClassOf 'is_about' some 'phenytoin' http://www.ebi.ac.uk/efo/EFO_0006343 chronic periodontitis 'chronic periodontitis' SubClassOf 'periodontitis' 'chronic periodontitis' SubClassOf 'has modifier' some 'chronic' 'chronic periodontitis' SubClassOf 'periodontitis' http://purl.obolibrary.org/obo/GO_0044456 synapse part 'synapse part' SubClassOf 'part_of' some 'synapse' 'synapse part' EquivalentTo 'cellular component' and ('part_of' some 'synapse') http://www.ebi.ac.uk/efo/EFO_0006342 aggressive periodontitis 'aggressive periodontitis' SubClassOf 'periodontitis' 'aggressive periodontitis' SubClassOf 'chronic periodontitis' 'aggressive periodontitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003847 http://www.ebi.ac.uk/efo/EFO_0006348 pulmonary artery-aorta diameter ratio measurement 'pulmonary artery-aorta diameter ratio measurement' SubClassOf ('is_about' some 'aorta') and ('is_about' some 'pulmonary artery') 'pulmonary artery-aorta diameter ratio measurement' SubClassOf ('is_about' some 'chronic obstructive pulmonary disease') or ('is_about' some 'pulmonary arterial hypertension') 'pulmonary artery-aorta diameter ratio measurement' SubClassOf 'is_about' some 'cardiovascular system' http://www.ebi.ac.uk/efo/EFO_0007679 oppositional defiant disorder measurement 'oppositional defiant disorder measurement' SubClassOf 'is_about' some 'oppositional defiant disorder' 'oppositional defiant disorder measurement' SubClassOf 'is_about' some 'mental or behavioural disorder' http://www.ebi.ac.uk/efo/EFO_0006347 pulmonary artery enlargement 'pulmonary artery enlargement' SubClassOf ('is_about' some 'aorta') and ('is_about' some 'pulmonary artery') 'pulmonary artery enlargement' SubClassOf 'has_about_it' some 'pulmonary artery-aorta diameter ratio measurement' 'pulmonary artery enlargement' SubClassOf 'is_about' some 'cardiovascular system' http://www.orpha.net/ORDO/Orphanet_52901 Isolated follicle stimulating hormone deficiency 'Isolated follicle stimulating hormone deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018555 http://www.ebi.ac.uk/efo/EFO_0006346 severe cutaneous adverse reaction 'severe cutaneous adverse reaction' SubClassOf 'skin disease' 'severe cutaneous adverse reaction' SubClassOf 'skin disease' http://www.ebi.ac.uk/efo/EFO_0005016 454 Sequencing '454 Sequencing' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) '454 Sequencing' SubClassOf 'has_participant' some 'sequencer' http://www.ebi.ac.uk/efo/EFO_0007677 LDL peak particle diameter measurement 'LDL peak particle diameter measurement' SubClassOf 'is_about' some 'lipoprotein' http://www.ebi.ac.uk/efo/EFO_0006374 COLO 699 'COLO 699' SubClassOf 'cultured cell' 'COLO 699' SubClassOf 'bearer_of' some 'lung adenocarcinoma' 'COLO 699' SubClassOf 'has_quality' some 'female' http://www.orpha.net/ORDO/Orphanet_284804 Ocular albinism 'Ocular albinism' SubClassOf 'Oculocutaneous or ocular albinism' 'Ocular albinism' SubClassOf 'Disorder of melanin metabolism' 'Ocular albinism' SubClassOf 'Oculocutaneous or ocular albinism' 'Ocular albinism' SubClassOf 'Disorder of melanin metabolism' http://www.ebi.ac.uk/efo/EFO_0005043 cardiac troponin T measurement 'cardiac troponin T measurement' SubClassOf 'is_about' some 'cardiovascular disease' 'cardiac troponin T measurement' SubClassOf 'is_about' some 'protein' 'cardiac troponin T measurement' SubClassOf 'is_about' some 'heart' http://www.ebi.ac.uk/efo/EFO_0006373 COLO 680N 'COLO 680N' SubClassOf 'has_quality' some 'female' 'COLO 680N' SubClassOf 'bearer_of' some 'squamous cell carcinoma' 'COLO 680N' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('esophagus' and ('part_of' some 'Homo sapiens')))) 'COLO 680N' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0005040 obsolete_response to temozolomide 'obsolete_response to temozolomide' SubClassOf 'obsolete class' 'obsolete_response to temozolomide' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0006372 COLO 679 'COLO 679' SubClassOf 'has_quality' some 'female' 'COLO 679' SubClassOf 'cultured cell' 'COLO 679' SubClassOf 'bearer_of' some 'melanoma' http://www.ebi.ac.uk/efo/EFO_0006371 COLO 678 'COLO 678' SubClassOf 'bearer_of' some 'colorectal cancer' 'COLO 678' SubClassOf 'has_quality' some 'male' 'COLO 678' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0005046 cutaneous Leishmaniasis 'cutaneous Leishmaniasis' SubClassOf 'Leishmaniasis' 'cutaneous Leishmaniasis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024610 'cutaneous Leishmaniasis' SubClassOf 'Leishmaniasis' http://www.ebi.ac.uk/efo/EFO_0006378 COLO 800 'COLO 800' SubClassOf 'bearer_of' some 'melanoma' 'COLO 800' SubClassOf 'derives_from' some ('fibroblast' and ('part_of' some ('zone of skin' and ('part_of' some 'Homo sapiens')))) 'COLO 800' SubClassOf 'has_quality' some 'male' 'COLO 800' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0005047 erythrocyte measurement 'erythrocyte measurement' EquivalentTo 'is_about' some 'erythrocyte' http://www.ebi.ac.uk/efo/EFO_0006377 COLO 792 'COLO 792' SubClassOf 'cultured cell' 'COLO 792' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('zone of skin' and ('part_of' some 'Homo sapiens')))) 'COLO 792' SubClassOf 'has_quality' some 'male' 'COLO 792' SubClassOf 'bearer_of' some 'melanoma' http://purl.obolibrary.org/obo/UBERON_0005725 olfactory system 'olfactory system' SubClassOf 'anatomical system' 'olfactory system' SubClassOf http://purl.obolibrary.org/obo/UBERON_0005726 http://www.ebi.ac.uk/efo/EFO_0005044 Leishmaniasis 'Leishmaniasis' SubClassOf 'parasitic infection' 'Leishmaniasis' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Leishmaniasis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002428 http://www.ebi.ac.uk/efo/EFO_0006376 COLO 783 'COLO 783' SubClassOf 'bearer_of' some 'melanoma' 'COLO 783' SubClassOf 'cultured cell' 'COLO 783' SubClassOf 'has_quality' some 'female' 'COLO 783' SubClassOf 'derives_from' some ('fibroblast' and ('part_of' some ('zone of skin' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0005045 visceral Leishmaniasis 'visceral Leishmaniasis' SubClassOf 'Leishmaniasis' 'visceral Leishmaniasis' SubClassOf 'Leishmaniasis' http://www.ebi.ac.uk/efo/EFO_0006375 COLO 741 'COLO 741' SubClassOf 'cultured cell' 'COLO 741' SubClassOf 'bearer_of' some 'colorectal cancer' 'COLO 741' SubClassOf 'has_quality' some 'female' http://www.ebi.ac.uk/efo/EFO_0006379 COLO 849 'COLO 849' SubClassOf 'derives_from' some ('fibroblast' and ('part_of' some ('zone of skin' and ('part_of' some 'Homo sapiens')))) 'COLO 849' SubClassOf 'cultured cell' 'COLO 849' SubClassOf 'has_quality' some 'male' 'COLO 849' SubClassOf 'bearer_of' some 'melanoma' http://www.orpha.net/ORDO/Orphanet_247827 Ectodermal dysplasia - cutaneous syndactyly syndrome 'Ectodermal dysplasia - cutaneous syndactyly syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Ectodermal dysplasia - cutaneous syndactyly syndrome' SubClassOf 'Ectodermal dysplasia - syndactyly syndrome' http://www.orpha.net/ORDO/Orphanet_247820 Ectodermal dysplasia - syndactyly syndrome 'Ectodermal dysplasia - syndactyly syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Ectodermal dysplasia - syndactyly syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Ectodermal dysplasia - syndactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021002 'Ectodermal dysplasia - syndactyly syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Ectodermal dysplasia - syndactyly syndrome' SubClassOf 'Ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/UBERON_0005721 pronephric mesoderm 'pronephric mesoderm' SubClassOf 'zebrafish component' 'pronephric mesoderm' SubClassOf 'develops_from' some 'presumptive pronephric mesoderm' 'pronephric mesoderm' SubClassOf 'part_of' some 'mesoderm' 'pronephric mesoderm' SubClassOf 'part_of' some 'trunk mesenchyme' 'pronephric mesoderm' SubClassOf 'develops_from' some 'mesoderm' 'pronephric mesoderm' SubClassOf http://purl.obolibrary.org/obo/UBERON_0006598 'pronephric mesoderm' SubClassOf 'mesoderm' http://www.ebi.ac.uk/efo/EFO_0006381 COLO 857 'COLO 857' SubClassOf 'bearer_of' some 'melanoma' 'COLO 857' SubClassOf 'has_quality' some 'male' 'COLO 857' SubClassOf 'cultured cell' 'COLO 857' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('zone of skin' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0006380 COLO 853 'COLO 853' SubClassOf 'bearer_of' some 'melanoma' 'COLO 853' SubClassOf 'cultured cell' 'COLO 853' SubClassOf 'has_quality' some 'male' 'COLO 853' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('zone of skin' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0006363 C170 'C170' SubClassOf 'cultured cell' 'C170' SubClassOf 'bearer_of' some 'colorectal cancer' http://www.ebi.ac.uk/efo/EFO_0005032 IP-seq 'IP-seq' SubClassOf 'has_participant' some 'high throughput sequencer' http://www.ebi.ac.uk/efo/EFO_0006362 A2780 'A2780' SubClassOf 'cultured cell' 'A2780' SubClassOf 'bearer_of' some 'ovarian carcinoma' http://www.ebi.ac.uk/efo/EFO_0007693 Hi-C 'Hi-C' SubClassOf 'has_participant' some 'sequencer' http://www.orpha.net/ORDO/Orphanet_284814 Disorder of phenylalanine metabolism 'Disorder of phenylalanine metabolism' SubClassOf 'Disorder of phenylalanin or tyrosine metabolism' 'Disorder of phenylalanine metabolism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004736 'Disorder of phenylalanine metabolism' SubClassOf 'Disorder of phenylalanin or tyrosine metabolism' http://www.ebi.ac.uk/efo/EFO_0006361 A2058 'A2058' SubClassOf 'cultured cell' 'A2058' SubClassOf 'has_quality' some 'male' 'A2058' SubClassOf 'bearer_of' some 'melanoma' http://www.ebi.ac.uk/efo/EFO_0007692 5C '5C' SubClassOf 'has_participant' some 'sequencer' http://www.ebi.ac.uk/efo/EFO_0006360 928 mel '928 mel' SubClassOf 'bearer_of' some 'melanoma' '928 mel' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0007691 Capture-C 'Capture-C' SubClassOf 'has_participant' some 'sequencer' http://www.ebi.ac.uk/efo/EFO_0005035 hippocampal volume 'hippocampal volume' SubClassOf 'is_about' some 'volume' 'hippocampal volume' SubClassOf 'is_about' some 'hippocampus' 'hippocampal volume' SubClassOf 'is_about' some 'mental or behavioural disorder' http://www.ebi.ac.uk/efo/EFO_0006367 CI-1 'CI-1' SubClassOf 'cultured cell' 'CI-1' SubClassOf 'bearer_of' some 'lymphoma' 'CI-1' SubClassOf 'has_quality' some 'female' http://www.ebi.ac.uk/efo/EFO_0007698 GBA carrier status 'GBA carrier status' SubClassOf 'is_about' some 'Parkinson's disease' http://www.orpha.net/ORDO/Orphanet_284811 Syndromic oculocutaneous albinism 'Syndromic oculocutaneous albinism' SubClassOf 'Genetic hypopigmentation of the skin' 'Syndromic oculocutaneous albinism' SubClassOf 'Oculocutaneous or ocular albinism' 'Syndromic oculocutaneous albinism' SubClassOf 'Oculocutaneous albinism' 'Syndromic oculocutaneous albinism' EquivalentTo 'Oculocutaneous albinism' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021127) 'Syndromic oculocutaneous albinism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 http://www.ebi.ac.uk/efo/EFO_0005036 platelet measurement 'platelet measurement' EquivalentTo 'measurement' and ('is_about' some 'platelet') http://www.ebi.ac.uk/efo/EFO_0006366 CAL 27 'CAL 27' SubClassOf 'bearer_of' some 'squamous cell carcinoma' 'CAL 27' SubClassOf 'has_quality' some 'male' 'CAL 27' SubClassOf 'cultured cell' 'CAL 27' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('tongue' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0007697 left superior temporal gyrus grey matter volume measurement 'left superior temporal gyrus grey matter volume measurement' SubClassOf 'is_about' some 'schizophrenia' 'left superior temporal gyrus grey matter volume measurement' SubClassOf 'is_about' some 'superior temporal gyrus' 'left superior temporal gyrus grey matter volume measurement' SubClassOf 'is_about' some 'brain' http://www.ebi.ac.uk/efo/EFO_0005033 RIP 'RIP' SubClassOf 'part_of' some 'nucleic acid library construction protocol' http://www.ebi.ac.uk/efo/EFO_0006365 C4-2B 'C4-2B' SubClassOf 'derives_from' some ('LNCAP' and ('part_of' some ('prostate gland' and ('part_of' some 'Homo sapiens')))) 'C4-2B' SubClassOf 'cultured cell' 'C4-2B' SubClassOf 'bearer_of' some 'prostate carcinoma' 'C4-2B' SubClassOf 'has_quality' some 'male' http://purl.obolibrary.org/obo/CHEBI_61276 scopolamine methobromide 'scopolamine methobromide' SubClassOf 'has_role' some 'antispasmodic' 'scopolamine methobromide' SubClassOf 'has_role' some 'muscarinic antagonist' 'scopolamine methobromide' SubClassOf 'has_role' some 'parasympatholytic' 'scopolamine methobromide' SubClassOf 'has_role' some 'antiemetic' http://www.ebi.ac.uk/efo/EFO_0006364 C32 'C32' SubClassOf 'has_quality' some 'male' 'C32' SubClassOf 'cultured cell' 'C32' SubClassOf 'bearer_of' some 'melanoma' http://www.ebi.ac.uk/efo/EFO_0005039 hippocampal atrophy 'hippocampal atrophy' SubClassOf 'has_disease_location' some 'hippocampus' http://www.ebi.ac.uk/efo/EFO_0005037 aortic root size 'aortic root size' SubClassOf 'is_about' some 'aorta' 'aortic root size' SubClassOf 'is_about' some 'aortic disease' http://www.ebi.ac.uk/efo/EFO_0006369 CL-34 'CL-34' SubClassOf 'bearer_of' some 'colorectal cancer' 'CL-34' SubClassOf 'cultured cell' 'CL-34' SubClassOf 'has_quality' some 'female' http://www.ebi.ac.uk/efo/EFO_0006368 CL-11 'CL-11' SubClassOf 'cultured cell' 'CL-11' SubClassOf 'bearer_of' some 'colorectal cancer' http://www.ebi.ac.uk/efo/EFO_0007699 eye movement measurement 'eye movement measurement' SubClassOf 'is_about' some 'eye' http://www.orpha.net/ORDO/Orphanet_284818 Disorder of tyrosine metabolism 'Disorder of tyrosine metabolism' SubClassOf 'Disorder of phenylalanin or tyrosine metabolism' 'Disorder of tyrosine metabolism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004736 'Disorder of tyrosine metabolism' SubClassOf 'Disorder of phenylalanin or tyrosine metabolism' http://www.orpha.net/ORDO/Orphanet_210571 Dystonia 16 'Dystonia 16' SubClassOf 'Persistent combined dystonia' 'Dystonia 16' SubClassOf 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' 'Dystonia 16' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000478 'Dystonia 16' SubClassOf 'Persistent combined dystonia' 'Dystonia 16' SubClassOf 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_247834 Occult macular dystrophy 'Occult macular dystrophy' SubClassOf 'Genetic macular dystrophy' 'Occult macular dystrophy' SubClassOf 'Genetic macular dystrophy' 'Occult macular dystrophy' SubClassOf 'macular degeneration' http://www.ebi.ac.uk/efo/EFO_0006370 CL-40 'CL-40' SubClassOf 'bearer_of' some 'colorectal cancer' 'CL-40' SubClassOf 'cultured cell' 'CL-40' SubClassOf 'has_quality' some 'female' http://www.ebi.ac.uk/efo/EFO_0006396 G112 'G112' SubClassOf 'cultured cell' 'G112' SubClassOf 'derives_from' some ('glial cell' and ('part_of' some ('brain' and ('part_of' some 'Homo sapiens')))) 'G112' SubClassOf 'bearer_of' some 'glioma' http://www.ebi.ac.uk/efo/EFO_0006395 G111 'G111' SubClassOf 'bearer_of' some 'glioma' 'G111' SubClassOf 'cultured cell' 'G111' SubClassOf 'derives_from' some ('glial cell' and ('part_of' some ('brain' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0006394 G-361 'G-361' SubClassOf 'bearer_of' some 'melanoma' 'G-361' SubClassOf 'cultured cell' 'G-361' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('zone of skin' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0006393 Farage 'Farage' SubClassOf 'bearer_of' some 'lymphoma' 'Farage' SubClassOf 'cultured cell' 'Farage' SubClassOf 'has_quality' some 'female' 'Farage' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('blood' and ('part_of' some 'Homo sapiens')))) http://www.orpha.net/ORDO/Orphanet_51608 Generalized arterial calcification of infancy 'Generalized arterial calcification of infancy' SubClassOf 'vascular disease' 'Generalized arterial calcification of infancy' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Generalized arterial calcification of infancy' SubClassOf 'has_disease_location' some 'aorta' http://www.ebi.ac.uk/efo/EFO_0006399 G121 'G121' SubClassOf 'bearer_of' some 'glioma' 'G121' SubClassOf 'cultured cell' 'G121' SubClassOf 'derives_from' some ('glial cell' and ('part_of' some ('brain' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0006398 G120 'G120' SubClassOf 'cultured cell' 'G120' SubClassOf 'bearer_of' some 'glioma' 'G120' SubClassOf 'derives_from' some ('glial cell' and ('part_of' some ('brain' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0006397 G118 'G118' SubClassOf 'bearer_of' some 'glioma' 'G118' SubClassOf 'derives_from' some ('glial cell' and ('part_of' some ('brain' and ('part_of' some 'Homo sapiens')))) 'G118' SubClassOf 'cultured cell' http://www.orpha.net/ORDO/Orphanet_163684 Leukoencephalopathy - dystonia - motor neuropathy 'Leukoencephalopathy - dystonia - motor neuropathy' SubClassOf 'Peroxisomal beta-oxidation disorder' 'Leukoencephalopathy - dystonia - motor neuropathy' SubClassOf 'Leukodystrophy' 'Leukoencephalopathy - dystonia - motor neuropathy' SubClassOf 'Peroxisomal beta-oxidation disorder' 'Leukoencephalopathy - dystonia - motor neuropathy' SubClassOf 'Leukodystrophy' http://www.orpha.net/ORDO/Orphanet_163681 Cortical dysplasia - focal epilepsy syndrome 'Cortical dysplasia - focal epilepsy syndrome' SubClassOf 'Epilepsy syndrome' 'Cortical dysplasia - focal epilepsy syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Cortical dysplasia - focal epilepsy syndrome' SubClassOf 'Epilepsy syndrome' http://purl.obolibrary.org/obo/UBERON_2000120 lateral line ganglion 'lateral line ganglion' SubClassOf 'cranial ganglion' http://purl.obolibrary.org/obo/UBERON_2000125 mandibular lateral line neuromast 'mandibular lateral line neuromast' SubClassOf 'zebrafish component' 'mandibular lateral line neuromast' SubClassOf 'neuromast' http://www.orpha.net/ORDO/Orphanet_199642 Isolated congenital microcephaly 'Isolated congenital microcephaly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001149 'Isolated congenital microcephaly' SubClassOf 'Rare genetic neurological disorder' 'Isolated congenital microcephaly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016054 http://www.ebi.ac.uk/efo/EFO_0005072 array reporter 'array reporter' SubClassOf 'part_of' some 'array' http://www.orpha.net/ORDO/Orphanet_199647 Isolated encephalocele 'Isolated encephalocele' SubClassOf 'Cephalocele' 'Isolated encephalocele' SubClassOf 'Cephalocele' http://www.ebi.ac.uk/efo/EFO_0005053 internal carotid intimal medial thickness 'internal carotid intimal medial thickness' SubClassOf 'is_about' some 'cardiovascular disease' http://www.ebi.ac.uk/efo/EFO_0006385 COV504 'COV504' SubClassOf 'cultured cell' 'COV504' SubClassOf 'derives_from' some ('polygonal cell' and ('part_of' some ('female gonad' and ('part_of' some 'Homo sapiens')))) 'COV504' SubClassOf 'has_quality' some 'female' 'COV504' SubClassOf 'bearer_of' some 'ovarian serous adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0005054 QRS complex 'QRS complex' SubClassOf ('is_about' some 'myocardial infarction') or ('is_about' some 'cardiac arrhythmia') 'QRS complex' SubClassOf 'is_about' some 'cardiovascular system' http://www.ebi.ac.uk/efo/EFO_0006384 COV434 'COV434' SubClassOf 'cultured cell' 'COV434' SubClassOf 'has_quality' some 'female' 'COV434' SubClassOf 'derives_from' some ('polygonal cell' and ('part_of' some ('female gonad' and ('part_of' some 'Homo sapiens')))) 'COV434' SubClassOf 'bearer_of' some 'ovarian granulosa tumour' http://www.orpha.net/ORDO/Orphanet_199627 Atypical autism 'Atypical autism' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Atypical autism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000594 http://www.ebi.ac.uk/efo/EFO_0005051 454 GS 20 standard manufacturer's protocol '454 GS 20 standard manufacturer's protocol' SubClassOf 'is_about' some '454 GS 20 sequencer' http://www.ebi.ac.uk/efo/EFO_0006383 COV362 'COV362' SubClassOf 'derives_from' some ('polygonal cell' and ('part_of' some ('female gonad' and ('part_of' some 'Homo sapiens')))) 'COV362' SubClassOf 'cultured cell' 'COV362' SubClassOf 'has_quality' some 'female' 'COV362' SubClassOf 'bearer_of' some 'endometrioid carcinoma' http://www.ebi.ac.uk/efo/EFO_0005052 nervous system measurement 'nervous system measurement' EquivalentTo 'measurement' and ('is_about' some 'nervous system') http://www.ebi.ac.uk/efo/EFO_0006382 COV318 'COV318' SubClassOf 'derives_from' some ('polygonal cell' and ('part_of' some ('female gonad' and ('part_of' some 'Homo sapiens')))) 'COV318' SubClassOf 'bearer_of' some 'ovarian serous adenocarcinoma' 'COV318' SubClassOf 'has_quality' some 'female' 'COV318' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0005057 myoglobin measurement 'myoglobin measurement' SubClassOf ('is_about' some 'myocardial infarction') or ('is_about' some 'muscular disease') http://www.ebi.ac.uk/efo/EFO_0006389 DLD1 'DLD1' SubClassOf 'cancer cell line' 'DLD1' SubClassOf 'colorectal cancer cell line' 'DLD1' SubClassOf 'has_quality' some 'male' 'DLD1' SubClassOf 'cultured cell' 'DLD1' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('colon' and ('part_of' some 'Homo sapiens')))) 'DLD1' SubClassOf 'bearer_of' some 'colorectal adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0006388 cystic renal cell carcinoma 'cystic renal cell carcinoma' SubClassOf 'renal cell carcinoma' 'cystic renal cell carcinoma' SubClassOf 'renal cell carcinoma' http://www.ebi.ac.uk/efo/EFO_0005055 QRS duration 'QRS duration' SubClassOf 'is_about' some 'cardiovascular system' http://www.ebi.ac.uk/efo/EFO_0006387 cystadenocarcinoma 'cystadenocarcinoma' SubClassOf 'adenocarcinoma' 'cystadenocarcinoma' SubClassOf 'adenocarcinoma' 'cystadenocarcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021077 http://www.ebi.ac.uk/efo/EFO_0006386 COV644 'COV644' SubClassOf 'cancer cell line' 'COV644' SubClassOf 'cultured cell' 'COV644' SubClassOf 'ovarian cancer cell lines' 'COV644' SubClassOf 'has_quality' some 'female' 'COV644' SubClassOf 'bearer_of' some 'ovarian mucinous adenocarcinoma' 'COV644' SubClassOf 'derives_from' some ('polygonal cell' and ('part_of' some ('female gonad' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0005059 acylcarnitine measurement 'acylcarnitine measurement' SubClassOf 'is_about' some 'Disorder of carnitine cycle and carnitine transport' http://www.orpha.net/ORDO/Orphanet_163668 Spondyloepiphyseal dysplasia, MacDermot type 'Spondyloepiphyseal dysplasia, MacDermot type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Spondyloepiphyseal dysplasia, MacDermot type' SubClassOf 'Syndromic genetic deafness' 'Spondyloepiphyseal dysplasia, MacDermot type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Spondyloepiphyseal dysplasia, MacDermot type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 'Spondyloepiphyseal dysplasia, MacDermot type' SubClassOf 'Syndromic genetic deafness' http://www.ebi.ac.uk/efo/EFO_0006392 FA6 'FA6' SubClassOf 'cancer cell line' 'FA6' SubClassOf 'bearer_of' some 'pancreatic ductal adenocarcinoma' 'FA6' SubClassOf 'cultured cell' 'FA6' SubClassOf 'breast adenocarcinoma cell line' 'FA6' SubClassOf 'has_quality' some 'female' http://www.ebi.ac.uk/efo/EFO_0006391 dopaminergic neuroblastoma 'dopaminergic neuroblastoma' SubClassOf 'neuroblastoma' 'dopaminergic neuroblastoma' SubClassOf 'neuroblastoma' http://www.ebi.ac.uk/efo/EFO_0006390 DMS 454 'DMS 454' SubClassOf 'cultured cell' 'DMS 454' SubClassOf 'has_quality' some 'male' 'DMS 454' SubClassOf 'derives_from' some ('polygonal cell' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) 'DMS 454' SubClassOf 'bearer_of' some 'small cell lung carcinoma' http://www.ebi.ac.uk/efo/EFO_0005086 Illumina HiSeq 2000 standard manufacturer's protocol 'Illumina HiSeq 2000 standard manufacturer's protocol' SubClassOf 'is_about' some 'Illumina HiSeq 2000' http://www.ebi.ac.uk/efo/EFO_0005087 Illumina MiSeq standard manufacturer's protocol 'Illumina MiSeq standard manufacturer's protocol' SubClassOf 'is_about' some 'Illumina MiSeq' http://www.ebi.ac.uk/efo/EFO_0005084 Illumina Genome Analyzer IIx standard manufacturer's protocol 'Illumina Genome Analyzer IIx standard manufacturer's protocol' SubClassOf 'is_about' some 'Illumina Genome Analyzer IIx' http://www.ebi.ac.uk/efo/EFO_0005085 Illumina HiSeq 1000 standard manufacturer's protocol 'Illumina HiSeq 1000 standard manufacturer's protocol' SubClassOf 'is_about' some 'Illumina HiSeq 1000' http://www.ebi.ac.uk/efo/EFO_0005088 testicular carcinoma 'testicular carcinoma' SubClassOf 'testicular disease' 'testicular carcinoma' SubClassOf 'urogenital neoplasm' 'testicular carcinoma' SubClassOf 'carcinoma' 'testicular carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021348 'testicular carcinoma' SubClassOf 'male reproductive organ cancer' 'testicular carcinoma' SubClassOf 'has_disease_location' some ('testis' or ('part_of' some 'testis')) http://www.ebi.ac.uk/efo/EFO_0005089 whole-brain volume 'whole-brain volume' SubClassOf 'is_about' some 'brain' 'whole-brain volume' SubClassOf 'is_about' some 'volume' http://purl.obolibrary.org/obo/UBERON_2001431 primitive olfactory epithelium 'primitive olfactory epithelium' SubClassOf http://purl.obolibrary.org/obo/UBERON_0010371 http://www.orpha.net/ORDO/Orphanet_247868 NLRP12-associated hereditary periodic fever syndrome 'NLRP12-associated hereditary periodic fever syndrome' SubClassOf 'Hereditary periodic fever syndrome' 'NLRP12-associated hereditary periodic fever syndrome' SubClassOf 'Familial cold urticaria' http://www.ebi.ac.uk/efo/EFO_0005090 basophil count 'basophil count' SubClassOf 'is_about' some 'basophil' 'basophil count' SubClassOf 'is_about' some 'blood cell' 'basophil count' SubClassOf 'is_about' some 'inflammatory response' http://www.ebi.ac.uk/efo/EFO_0005093 hip circumference 'hip circumference' SubClassOf 'is_about' some 'bone' http://www.ebi.ac.uk/efo/EFO_0005094 P wave duration 'P wave duration' SubClassOf 'is_about' some 'cardiovascular system' http://www.ebi.ac.uk/efo/EFO_0005091 monocyte count 'monocyte count' SubClassOf 'is_about' some 'monocyte' 'monocyte count' SubClassOf ('is_about' some 'leukemia') or ('is_about' some 'infectious disease') 'monocyte count' SubClassOf 'is_about' some 'blood cell' http://www.ebi.ac.uk/efo/EFO_0005092 entorhinal cortical volume 'entorhinal cortical volume' SubClassOf 'is_about' some 'brain' 'entorhinal cortical volume' SubClassOf 'is_about' some 'volume' http://www.orpha.net/ORDO/Orphanet_163690 Hypotonia - cystinuria syndrome 'Hypotonia - cystinuria syndrome' SubClassOf 'Hypotonia - cystinuria type 1' 'Hypotonia - cystinuria syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Hypotonia - cystinuria syndrome' SubClassOf 'Hypotonia - cystinuria type 1' http://www.orpha.net/ORDO/Orphanet_163693 2p21 microdeletion syndrome '2p21 microdeletion syndrome' SubClassOf 'Hypotonia - cystinuria type 1' '2p21 microdeletion syndrome' SubClassOf 'Hypotonia - cystinuria syndrome' http://www.orpha.net/ORDO/Orphanet_163696 Action myoclonus - renal failure syndrome 'Action myoclonus - renal failure syndrome' SubClassOf 'Epilepsy syndrome' 'Action myoclonus - renal failure syndrome' SubClassOf 'Primary glomerular disease' 'Action myoclonus - renal failure syndrome' SubClassOf 'Primary glomerular disease' 'Action myoclonus - renal failure syndrome' SubClassOf 'Progressive myoclonic epilepsy' http://www.ebi.ac.uk/efo/EFO_0005082 Illumina Genome Analyzer standard manufacturer's protocol 'Illumina Genome Analyzer standard manufacturer's protocol' SubClassOf 'is_about' some 'Illumina Genome Analyzer' http://www.ebi.ac.uk/efo/EFO_0005083 Illumina Genome Analyzer II standard manufacturer's protocol 'Illumina Genome Analyzer II standard manufacturer's protocol' SubClassOf 'is_about' some 'Illumina Genome Analyzer II' http://www.ebi.ac.uk/efo/EFO_0005080 CC16 measurement 'CC16 measurement' SubClassOf 'is_about' some 'respiratory system disease' http://www.ebi.ac.uk/efo/EFO_0005081 surfactant protein D measurement 'surfactant protein D measurement' SubClassOf 'is_about' some 'lung disease' http://purl.obolibrary.org/obo/CHEBI_36261 taurodeoxycholate 'taurodeoxycholate' SubClassOf 'chemical entity' 'taurodeoxycholate' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_100069 Semantic dementia 'Semantic dementia' SubClassOf 'Frontotemporal dementia' 'Semantic dementia' SubClassOf 'Behavioral variant of frontotemporal dementia' 'Semantic dementia' SubClassOf 'Progressive non-fluent aphasia' http://www.orpha.net/ORDO/Orphanet_369881 2p21 microdeletion syndrome without cystinuria '2p21 microdeletion syndrome without cystinuria' SubClassOf 'Homozygous 2p21 microdeletion syndrome' '2p21 microdeletion syndrome without cystinuria' SubClassOf 'Homozygous 2p21 microdeletion syndrome' http://www.orpha.net/ORDO/Orphanet_163634 Maffucci syndrome 'Maffucci syndrome' SubClassOf 'skin neoplasm' 'Maffucci syndrome' SubClassOf 'Malformation syndrome with hamartosis' 'Maffucci syndrome' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'Maffucci syndrome' SubClassOf 'Inherited cancer-predisposing syndrome' 'Maffucci syndrome' SubClassOf 'Overgrowth syndrome' 'Maffucci syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024499 'Maffucci syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018729 'Maffucci syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019293 'Maffucci syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 'Maffucci syndrome' SubClassOf 'Malformation syndrome with hamartosis' 'Maffucci syndrome' SubClassOf 'Genetic skin tumor' 'Maffucci syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016235 'Maffucci syndrome' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'Maffucci syndrome' SubClassOf 'Overgrowth syndrome' 'Maffucci syndrome' SubClassOf 'Inherited cancer-predisposing syndrome' http://www.orpha.net/ORDO/Orphanet_140997 Orofaciodigital syndrome 'Orofaciodigital syndrome' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Orofaciodigital syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Orofaciodigital syndrome' SubClassOf 'Syndrome or malformation associated with head and neck malformations' 'Orofaciodigital syndrome' SubClassOf 'Oromandibular-limb anomalies syndrome' 'Orofaciodigital syndrome' SubClassOf 'Genetic branchial arch or oral-acral syndrome' 'Orofaciodigital syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 'Orofaciodigital syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Orofaciodigital syndrome' SubClassOf 'Syndrome or malformation associated with head and neck malformations' 'Orofaciodigital syndrome' SubClassOf 'Oromandibular-limb anomalies syndrome' http://www.orpha.net/ORDO/Orphanet_369886 Homozygous 2p21 microdeletion syndrome 'Homozygous 2p21 microdeletion syndrome' SubClassOf 'Partial deletion of the short arm of chromosome 2' 'Homozygous 2p21 microdeletion syndrome' SubClassOf 'Partial deletion of the short arm of chromosome 2' http://purl.obolibrary.org/obo/UBERON_0003126 trachea 'trachea' SubClassOf 'develops_from' some 'primordium' 'trachea' SubClassOf 'develops_from' some 'endoderm' 'trachea' SubClassOf 'develops_from' some 'digestive system' 'trachea' SubClassOf 'part_of' some 'respiratory system' http://www.orpha.net/ORDO/Orphanet_88924 Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis 'Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis' SubClassOf 'Partial deletion of the short arm of chromosome 16' 'Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis' SubClassOf 'has_disease_location' some 'kidney' 'Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis' SubClassOf 'Familial cystic renal disease' 'Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis' SubClassOf 'Partial deletion of the short arm of chromosome 16' http://purl.obolibrary.org/obo/UBERON_0003128 cranium 'cranium' SubClassOf 'part_of' some 'head' 'cranium' SubClassOf 'part_of' some 'skeletal system' http://purl.obolibrary.org/obo/UBERON_0003124 chorion 'chorion' SubClassOf 'develops_from' some 'mesoderm' http://purl.obolibrary.org/obo/UBERON_0004454 tarsal region 'tarsal region' SubClassOf 'part_of' some 'hindlimb' http://www.ebi.ac.uk/efo/EFO_0005097 obsolete_bronchiole 'obsolete_bronchiole' SubClassOf 'obsolete class' 'obsolete_bronchiole' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0005098 obsolete_cortical collecting duct 'obsolete_cortical collecting duct' SubClassOf 'obsolete class' 'obsolete_cortical collecting duct' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0005095 PR segment 'PR segment' SubClassOf 'is_about' some 'cardiovascular system' http://www.ebi.ac.uk/efo/EFO_0005096 obsolete_abdominal wall 'obsolete_abdominal wall' SubClassOf 'obsolete class' 'obsolete_abdominal wall' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0005099 obsolete_stele 'obsolete_stele' SubClassOf 'obsolete class' 'obsolete_stele' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_100071 Mosaic trisomy 3 'Mosaic trisomy 3' SubClassOf 'Total autosomal trisomy' 'Mosaic trisomy 3' SubClassOf 'Total autosomal trisomy' http://www.orpha.net/ORDO/Orphanet_163631 Bile acid synthesis defect with cholestasis and malabsorption 'Bile acid synthesis defect with cholestasis and malabsorption' SubClassOf 'Familial intrahepatic cholestasis' 'Bile acid synthesis defect with cholestasis and malabsorption' SubClassOf 'Disorder of bile acid synthesis' 'Bile acid synthesis defect with cholestasis and malabsorption' SubClassOf 'Familial intrahepatic cholestasis' 'Bile acid synthesis defect with cholestasis and malabsorption' SubClassOf 'Disorder of bile acid synthesis' http://www.orpha.net/ORDO/Orphanet_100070 Progressive non-fluent aphasia 'Progressive non-fluent aphasia' SubClassOf 'Frontotemporal neurodegeneration with movement disorder' 'Progressive non-fluent aphasia' SubClassOf 'Frontotemporal dementia' 'Progressive non-fluent aphasia' SubClassOf 'Frontotemporal neurodegeneration with movement disorder' 'Progressive non-fluent aphasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0011842 http://www.orpha.net/ORDO/Orphanet_88919 Autosomal recessive Alport syndrome 'Autosomal recessive Alport syndrome' SubClassOf 'Alport syndrome' 'Autosomal recessive Alport syndrome' SubClassOf 'autosomal recessive disease' 'Autosomal recessive Alport syndrome' SubClassOf 'Alport syndrome' http://www.orpha.net/ORDO/Orphanet_369873 Obesity due to SIM1 deficiency 'Obesity due to SIM1 deficiency' SubClassOf 'Genetic non-syndromic obesity' 'Obesity due to SIM1 deficiency' SubClassOf 'Genetic non-syndromic obesity' http://purl.obolibrary.org/obo/CHEBI_24297 glucuronate 'glucuronate' SubClassOf 'chemical entity' 'glucuronate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_49575 diazepam 'diazepam' SubClassOf 'has_role' some 'drug role' http://www.orpha.net/ORDO/Orphanet_88918 Autosomal dominant Alport syndrome 'Autosomal dominant Alport syndrome' SubClassOf 'Alport syndrome' 'Autosomal dominant Alport syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 'Autosomal dominant Alport syndrome' SubClassOf 'Alport syndrome' http://www.orpha.net/ORDO/Orphanet_88917 X-linked Alport syndrome 'X-linked Alport syndrome' SubClassOf 'Alport syndrome' 'X-linked Alport syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000425 'X-linked Alport syndrome' SubClassOf 'Alport syndrome' http://www.orpha.net/ORDO/Orphanet_100047 Esophageal duplication cyst 'Esophageal duplication cyst' SubClassOf 'Duplication of the esophagus' 'Esophageal duplication cyst' SubClassOf 'Duplication of the esophagus' http://www.orpha.net/ORDO/Orphanet_100046 Autosomal dominant intermediate Charcot-Marie-Tooth disease type D 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type D' SubClassOf 'Autosomal dominant intermediate Charcot-Marie-Tooth disease' 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type D' SubClassOf 'Autosomal dominant intermediate Charcot-Marie-Tooth disease' http://www.orpha.net/ORDO/Orphanet_100049 Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies 'Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017016 http://www.orpha.net/ORDO/Orphanet_100048 Tubular duplication of the esophagus 'Tubular duplication of the esophagus' SubClassOf 'Duplication of the esophagus' 'Tubular duplication of the esophagus' SubClassOf 'Duplication of the esophagus' http://www.orpha.net/ORDO/Orphanet_100043 Autosomal dominant intermediate Charcot-Marie-Tooth disease type A 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type A' SubClassOf 'Autosomal dominant intermediate Charcot-Marie-Tooth disease' 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type A' SubClassOf 'Autosomal dominant intermediate Charcot-Marie-Tooth disease' http://www.orpha.net/ORDO/Orphanet_163662 Spondyloepiphyseal dysplasia, Reardon type 'Spondyloepiphyseal dysplasia, Reardon type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Spondyloepiphyseal dysplasia, Reardon type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' http://purl.obolibrary.org/obo/UBERON_2001471 posterior lateral line system 'anterior lateral line system' DisjointWith 'posterior lateral line system' 'posterior lateral line system' SubClassOf 'lateral line system' http://www.orpha.net/ORDO/Orphanet_100045 Autosomal dominant intermediate Charcot-Marie-Tooth disease type C 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type C' SubClassOf 'Autosomal dominant intermediate Charcot-Marie-Tooth disease' 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type C' SubClassOf 'Autosomal dominant intermediate Charcot-Marie-Tooth disease' http://www.orpha.net/ORDO/Orphanet_100044 Autosomal dominant intermediate Charcot-Marie-Tooth disease type B 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type B' SubClassOf 'Autosomal dominant intermediate Charcot-Marie-Tooth disease' 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type B' SubClassOf 'Autosomal dominant intermediate Charcot-Marie-Tooth disease' http://www.orpha.net/ORDO/Orphanet_163665 Spondyloepiphyseal dysplasia tarda, Kohn type 'Spondyloepiphyseal dysplasia tarda, Kohn type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Spondyloepiphyseal dysplasia tarda, Kohn type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Spondyloepiphyseal dysplasia tarda, Kohn type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Spondyloepiphyseal dysplasia tarda, Kohn type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 http://purl.obolibrary.org/obo/BTO_0001948 JURKAT E-6.1 cell 'JURKAT E-6.1 cell' SubClassOf 'has_quality' some 'male' 'JURKAT E-6.1 cell' SubClassOf 'derives_from' some ('cell type' and ('part_of' some (('developmental stage' or 'organism part') and ('part_of' some 'Homo sapiens')))) 'JURKAT E-6.1 cell' SubClassOf 'derives_from' some 'Jurkat' http://purl.obolibrary.org/obo/CHEBI_24265 gluconate 'gluconate' SubClassOf 'chemical entity' 'gluconate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/UBERON_0003143 pupa 'pupa' SubClassOf 'whole organism' http://purl.obolibrary.org/obo/CHEBI_36252 glycochenodeoxycholate 'glycochenodeoxycholate' SubClassOf 'chemical entity' 'glycochenodeoxycholate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_37585 sodium dihydrogenphosphate 'sodium dihydrogenphosphate' SubClassOf 'chemical entity' 'sodium dihydrogenphosphate' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_100054 Hereditary angioedema type 3 'Hereditary angioedema type 3' SubClassOf 'Hereditary angioedema' 'Hereditary angioedema type 3' SubClassOf 'Hereditary angioedema' http://www.orpha.net/ORDO/Orphanet_51636 WHIM syndrome 'WHIM syndrome' SubClassOf 'Constitutional neutropenia with extra-haematopoietic manifestations' 'WHIM syndrome' SubClassOf 'Other immunodeficiency syndromes due to defects in innate immunity' 'WHIM syndrome' SubClassOf 'Constitutional neutropenia with extra-haematopoietic manifestations' 'WHIM syndrome' SubClassOf 'Other immunodeficiency syndromes due to defects in innate immunity' http://purl.obolibrary.org/obo/CHEBI_36257 taurocholate 'taurocholate' SubClassOf 'chemical entity' 'taurocholate' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_100050 Hereditary angioedema type 1 'Hereditary angioedema type 1' SubClassOf 'Hereditary angioedema' 'Hereditary angioedema type 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0007117 http://www.orpha.net/ORDO/Orphanet_163654 Spondyloepiphyseal dysplasia, Cantu type 'Spondyloepiphyseal dysplasia, Cantu type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Spondyloepiphyseal dysplasia, Cantu type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_100051 Hereditary angioedema type 2 'Hereditary angioedema type 2' SubClassOf 'Hereditary angioedema' 'Hereditary angioedema type 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0007117 http://purl.obolibrary.org/obo/UBERON_2000136 otic lateral line neuromast 'otic lateral line neuromast' SubClassOf 'zebrafish component' 'otic lateral line neuromast' SubClassOf 'neuromast' http://www.orpha.net/ORDO/Orphanet_369891 Cardiac anomalies-developmental delay-facial dysmorphism syndrome 'Cardiac anomalies-developmental delay-facial dysmorphism syndrome' SubClassOf 'Genetic cardiac anomaly' 'Cardiac anomalies-developmental delay-facial dysmorphism syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Cardiac anomalies-developmental delay-facial dysmorphism syndrome' SubClassOf 'Rare syndrome with cardiac malformations' 'Cardiac anomalies-developmental delay-facial dysmorphism syndrome' SubClassOf 'Genetic cardiac anomaly' 'Cardiac anomalies-developmental delay-facial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Cardiac anomalies-developmental delay-facial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Cardiac anomalies-developmental delay-facial dysmorphism syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Cardiac anomalies-developmental delay-facial dysmorphism syndrome' SubClassOf 'Rare syndrome with cardiac malformations' http://purl.obolibrary.org/obo/UBERON_0003153 head capsule 'head capsule' SubClassOf 'head' 'head capsule' SubClassOf 'head' http://purl.obolibrary.org/obo/UBERON_2001468 anterior lateral line system 'anterior lateral line system' DisjointWith 'posterior lateral line system' 'anterior lateral line system' SubClassOf 'lateral line system' http://www.orpha.net/ORDO/Orphanet_369894 Early infantile epileptic encephalopathy without suppression burst 'Early infantile epileptic encephalopathy without suppression burst' SubClassOf 'Neonatal epilepsy syndrome' 'Early infantile epileptic encephalopathy without suppression burst' SubClassOf 'Monogenic disease with epilepsy' 'Early infantile epileptic encephalopathy without suppression burst' SubClassOf 'Infantile epilepsy syndrome' 'Early infantile epileptic encephalopathy without suppression burst' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Early infantile epileptic encephalopathy without suppression burst' SubClassOf 'Early infantile epileptic encephalopathy' 'Early infantile epileptic encephalopathy without suppression burst' SubClassOf 'Infantile epilepsy syndrome' 'Early infantile epileptic encephalopathy without suppression burst' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Early infantile epileptic encephalopathy without suppression burst' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.orpha.net/ORDO/Orphanet_163649 Spondyloepiphyseal dysplasia, Nishimura type 'Spondyloepiphyseal dysplasia, Nishimura type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Spondyloepiphyseal dysplasia, Nishimura type' SubClassOf 'Orofacial clefting syndrome' 'Spondyloepiphyseal dysplasia, Nishimura type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Spondyloepiphyseal dysplasia, Nishimura type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 'Spondyloepiphyseal dysplasia, Nishimura type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023603 'Spondyloepiphyseal dysplasia, Nishimura type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Spondyloepiphyseal dysplasia, Nishimura type' SubClassOf 'Orofacial clefting syndrome' 'Spondyloepiphyseal dysplasia, Nishimura type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 http://www.orpha.net/ORDO/Orphanet_369897 Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies 'Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies' SubClassOf 'Mitochondrial DNA depletion syndrome, encephalomyopathic form' 'Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies' SubClassOf 'Mitochondrial DNA depletion syndrome, encephalomyopathic form' http://www.orpha.net/ORDO/Orphanet_140957 Autosomal dominant macrothrombocytopenia 'Autosomal dominant macrothrombocytopenia' SubClassOf 'Inherited giant platelet disorder' 'Autosomal dominant macrothrombocytopenia' SubClassOf 'Inherited giant platelet disorder' http://www.orpha.net/ORDO/Orphanet_140952 Syndactyly - telecanthus - anogenital and renal malformations 'Syndactyly - telecanthus - anogenital and renal malformations' SubClassOf 'Syndromic anorectal malformation' 'Syndactyly - telecanthus - anogenital and renal malformations' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Syndactyly - telecanthus - anogenital and renal malformations' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Syndactyly - telecanthus - anogenital and renal malformations' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Syndactyly - telecanthus - anogenital and renal malformations' SubClassOf 'Syndromic anorectal malformation' 'Syndactyly - telecanthus - anogenital and renal malformations' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.orpha.net/ORDO/Orphanet_86309 DPAGT1-CDG 'DPAGT1-CDG' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' 'DPAGT1-CDG' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'DPAGT1-CDG' SubClassOf 'Disorder of protein N-glycosylation' 'DPAGT1-CDG' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' 'DPAGT1-CDG' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'DPAGT1-CDG' SubClassOf 'Disorder of protein N-glycosylation' 'DPAGT1-CDG' SubClassOf 'congenital disorder of glycosylation type I' http://purl.obolibrary.org/obo/CHEBI_36234 chenodeoxycholate 'chenodeoxycholate' SubClassOf 'chemical entity' 'chenodeoxycholate' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_49382 Achromatopsia 'Achromatopsia' SubClassOf 'Color-vision disease' 'Achromatopsia' SubClassOf 'Syndromic myopia' 'Achromatopsia' SubClassOf 'Color-vision disease' 'Achromatopsia' SubClassOf 'disease has feature' some http://purl.obolibrary.org/obo/MONDO_0001020 'Achromatopsia' SubClassOf 'Syndromic myopia' http://www.orpha.net/ORDO/Orphanet_247806 APC-related attenuated familial adenomatous polyposis 'APC-related attenuated familial adenomatous polyposis' SubClassOf 'Attenuated familial adenomatous polyposis' 'APC-related attenuated familial adenomatous polyposis' SubClassOf 'Attenuated familial adenomatous polyposis' http://www.orpha.net/ORDO/Orphanet_140969 Saldino-Mainzer syndrome 'Saldino-Mainzer syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Saldino-Mainzer syndrome' SubClassOf 'Acromelic dysplasia' 'Saldino-Mainzer syndrome' SubClassOf 'Syndromic retinitis pigmentosa' 'Saldino-Mainzer syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0014284 'Saldino-Mainzer syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0014618 'Saldino-Mainzer syndrome' SubClassOf 'Acromelic dysplasia' 'Saldino-Mainzer syndrome' SubClassOf 'Familial cystic renal disease' 'Saldino-Mainzer syndrome' SubClassOf 'Syndromic retinitis pigmentosa' http://www.orpha.net/ORDO/Orphanet_247815 Autosomal recessive ataxia due to PEX10 deficiency 'Autosomal recessive ataxia due to PEX10 deficiency' SubClassOf 'Autosomal recessive metabolic cerebellar ataxia' 'Autosomal recessive ataxia due to PEX10 deficiency' SubClassOf 'Autosomal recessive metabolic cerebellar ataxia' http://www.orpha.net/ORDO/Orphanet_140966 Palmoplantar keratoderma, Nagashima type 'Palmoplantar keratoderma, Nagashima type' SubClassOf 'Autosomal recessive isolated diffuse palmoplantar keratoderma' 'Palmoplantar keratoderma, Nagashima type' SubClassOf 'Autosomal recessive isolated diffuse palmoplantar keratoderma' http://www.orpha.net/ORDO/Orphanet_140963 Bilateral microtia - deafness - cleft palate 'Bilateral microtia - deafness - cleft palate' SubClassOf 'Syndromic genetic deafness' 'Bilateral microtia - deafness - cleft palate' SubClassOf 'Orofacial clefting syndrome' 'Bilateral microtia - deafness - cleft palate' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 'Bilateral microtia - deafness - cleft palate' SubClassOf 'Orofacial clefting syndrome' 'Bilateral microtia - deafness - cleft palate' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_88950 Autosomal dominant medullary cystic kidney disease with hyperuricemia 'Autosomal dominant medullary cystic kidney disease with hyperuricemia' SubClassOf 'Autosomal dominant medullary cystic kidney disease with or without hyperuricemia' 'Autosomal dominant medullary cystic kidney disease with hyperuricemia' SubClassOf 'Autosomal dominant medullary cystic kidney disease with or without hyperuricemia' http://purl.obolibrary.org/obo/CHEBI_50505 sweetening agent role 'sweetening agent role' SubClassOf 'inheres_in' some 'chemical entity' http://www.orpha.net/ORDO/Orphanet_235832 Congenital vascular bone syndrome 'Congenital vascular bone syndrome' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Congenital vascular bone syndrome' SubClassOf 'bone disease' http://www.orpha.net/ORDO/Orphanet_140976 RHYNS syndrome 'RHYNS syndrome' SubClassOf 'Syndromic retinitis pigmentosa' 'RHYNS syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019744 'RHYNS syndrome' SubClassOf 'Syndromic retinitis pigmentosa' 'RHYNS syndrome' SubClassOf 'Genetic renal tubular disease' http://purl.obolibrary.org/obo/BTO_0001903 logarithmic phase culture 'logarithmic phase culture' SubClassOf 'participates_in' some 'experimental process' http://www.orpha.net/ORDO/Orphanet_88949 Autosomal dominant medullary cystic kidney disease without hyperuricemia 'Autosomal dominant medullary cystic kidney disease without hyperuricemia' SubClassOf 'Autosomal dominant medullary cystic kidney disease with or without hyperuricemia' 'Autosomal dominant medullary cystic kidney disease without hyperuricemia' SubClassOf 'Autosomal dominant medullary cystic kidney disease with or without hyperuricemia' http://www.orpha.net/ORDO/Orphanet_210548 Macrocephaly-autism syndrome 'Macrocephaly-autism syndrome' SubClassOf 'Genetic syndrome with a central nervous system malformation as major feature' 'Macrocephaly-autism syndrome' SubClassOf 'Rare disease with autism' 'Macrocephaly-autism syndrome' SubClassOf 'Rare disease with autism' 'Macrocephaly-autism syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 'Macrocephaly-autism syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017120 http://purl.obolibrary.org/obo/CHEBI_38870 inhalation anaesthetic 'inhalation anaesthetic' SubClassOf 'inheres_in' some 'chemical entity' http://www.orpha.net/ORDO/Orphanet_88940 Pseudohypoaldosteronism type 2C 'Pseudohypoaldosteronism type 2C' SubClassOf 'Pseudohypoaldosteronism type 2' 'Pseudohypoaldosteronism type 2C' SubClassOf 'Pseudohypoaldosteronism type 2' http://purl.obolibrary.org/obo/UBERON_2000175 posterior lateral line nerve 'posterior lateral line nerve' SubClassOf http://purl.obolibrary.org/obo/UBERON_0008906 http://www.orpha.net/ORDO/Orphanet_100094 Multiple polyglandular tumor 'Multiple polyglandular tumor' SubClassOf 'disease has feature' some http://purl.obolibrary.org/obo/MONDO_0002082 'Multiple polyglandular tumor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015126 http://purl.obolibrary.org/obo/CHEBI_38877 intravenous anaesthetic 'intravenous anaesthetic' SubClassOf 'inheres_in' some 'chemical entity' http://www.orpha.net/ORDO/Orphanet_140989 Primary central nervous system vasculitis 'Primary central nervous system vasculitis' SubClassOf 'Genetic central nervous system and retinal vascular disease' 'Primary central nervous system vasculitis' SubClassOf 'Genetic central nervous system and retinal vascular disease' 'Primary central nervous system vasculitis' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'Primary central nervous system vasculitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015489 http://www.orpha.net/ORDO/Orphanet_88939 Pseudohypoaldosteronism type 2B 'Pseudohypoaldosteronism type 2B' SubClassOf 'Pseudohypoaldosteronism type 2' 'Pseudohypoaldosteronism type 2B' SubClassOf 'Pseudohypoaldosteronism type 2' http://www.orpha.net/ORDO/Orphanet_88938 Pseudohypoaldosteronism type 2A 'Pseudohypoaldosteronism type 2A' SubClassOf 'Pseudohypoaldosteronism type 2' 'Pseudohypoaldosteronism type 2A' SubClassOf 'Pseudohypoaldosteronism type 2' http://purl.obolibrary.org/obo/UBERON_0003112 olfactory region 'olfactory region' SubClassOf 'develops_from' some 'head mesenchyme' 'olfactory region' SubClassOf 'develops_from' some 'skeletal system' 'olfactory region' SubClassOf 'part_of' some 'cranium' 'olfactory region' SubClassOf 'develops_from' some 'paraxial mesoderm' http://purl.obolibrary.org/obo/CLO_0013210 GM17279 'GM17279' SubClassOf 'has_quality' some 'female' 'GM17279' SubClassOf 'cultured cell' 'GM17279' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://www.orpha.net/ORDO/Orphanet_269190 Encephaloclastic disorder 'Encephaloclastic disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016054 http://www.orpha.net/ORDO/Orphanet_101435 Rare genetic eye disease 'Rare genetic eye disease' SubClassOf 'has_disease_location' some ('eye' or ('part_of' some 'eye')) http://purl.obolibrary.org/obo/CLO_0013214 GM17272 'GM17272' SubClassOf 'cultured cell' 'GM17272' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17272' SubClassOf 'has_quality' some 'male' http://purl.obolibrary.org/obo/CLO_0013213 GM17271 'GM17271' SubClassOf 'cultured cell' 'GM17271' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17271' SubClassOf 'has_quality' some 'male' http://purl.obolibrary.org/obo/CLO_0013212 GM17270 'GM17270' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17270' SubClassOf 'cultured cell' 'GM17270' SubClassOf 'has_quality' some 'male' http://www.orpha.net/ORDO/Orphanet_99672 Fried's tooth and nail syndrome 'Fried's tooth and nail syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Fried's tooth and nail syndrome' SubClassOf 'Ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/CHEBI_63916 iloprost 'iloprost' SubClassOf 'has_role' some 'drug role' http://purl.obolibrary.org/obo/CHEBI_63918 artesunate 'artesunate' SubClassOf 'has_role' some 'drug role' http://purl.obolibrary.org/obo/CHEBI_2666 amitriptyline 'amitriptyline' SubClassOf 'has_role' some 'adrenergic uptake inhibitor' http://purl.obolibrary.org/obo/CLO_0013208 GM17277 'GM17277' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17277' SubClassOf 'has_quality' some 'female' 'GM17277' SubClassOf 'cultured cell' http://www.orpha.net/ORDO/Orphanet_319651 Constitutional megaloblastic anemia with severe neurologic disease 'Constitutional megaloblastic anemia with severe neurologic disease' SubClassOf 'Constitutional megaloblastic anemia due to folate metabolism disorder' 'Constitutional megaloblastic anemia with severe neurologic disease' SubClassOf 'Disorder of folate metabolism and transport' 'Constitutional megaloblastic anemia with severe neurologic disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016406 'Constitutional megaloblastic anemia with severe neurologic disease' SubClassOf 'Cerebral organic aciduria' 'Constitutional megaloblastic anemia with severe neurologic disease' SubClassOf 'Constitutional megaloblastic anemia due to folate metabolism disorder' 'Constitutional megaloblastic anemia with severe neurologic disease' SubClassOf 'Disorder of folate metabolism and transport' http://www.orpha.net/ORDO/Orphanet_369920 Pontocerebellar hypoplasia type 9 'Pontocerebellar hypoplasia type 9' SubClassOf 'Non-syndromic pontocerebellar hypoplasia' 'Pontocerebellar hypoplasia type 9' SubClassOf 'Non-syndromic pontocerebellar hypoplasia' http://purl.obolibrary.org/obo/CHEBI_26986 threonine 'threonine' SubClassOf 'amino acid' 'threonine' SubClassOf 'amino acid' http://www.orpha.net/ORDO/Orphanet_98349 Autosomal dominant isolated diffuse palmoplantar keratoderma 'Autosomal dominant isolated diffuse palmoplantar keratoderma' SubClassOf 'Isolated diffuse palmoplantar keratoderma' 'Autosomal dominant isolated diffuse palmoplantar keratoderma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 'Autosomal dominant isolated diffuse palmoplantar keratoderma' SubClassOf 'Isolated diffuse palmoplantar keratoderma' http://purl.obolibrary.org/obo/CHEBI_36314 glycerophosphoethanolamine 'glycerophosphoethanolamine' SubClassOf 'phospholipid' 'glycerophosphoethanolamine' SubClassOf 'phospholipid' http://www.orpha.net/ORDO/Orphanet_98353 Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature 'Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature' SubClassOf 'Disease with focal palmoplantar keratoderma as a major feature' 'Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature' SubClassOf 'Disease with focal palmoplantar keratoderma as a major feature' 'Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 http://www.orpha.net/ORDO/Orphanet_98352 Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' SubClassOf 'Disease with diffuse palmoplantar keratoderma as a major feature' 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' SubClassOf 'Disease with diffuse palmoplantar keratoderma as a major feature' 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 http://www.orpha.net/ORDO/Orphanet_98357 Autosomal recessive disease with focal palmoplantar keratoderma as a major feature 'Autosomal recessive disease with focal palmoplantar keratoderma as a major feature' SubClassOf 'Disease with focal palmoplantar keratoderma as a major feature' 'Autosomal recessive disease with focal palmoplantar keratoderma as a major feature' SubClassOf 'Disease with focal palmoplantar keratoderma as a major feature' 'Autosomal recessive disease with focal palmoplantar keratoderma as a major feature' SubClassOf 'autosomal recessive disease' http://www.orpha.net/ORDO/Orphanet_99688 Dermotrichic syndrome 'Dermotrichic syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Dermotrichic syndrome' SubClassOf 'Ectodermal dysplasia syndrome' http://www.orpha.net/ORDO/Orphanet_98356 Autosomal recessive isolated diffuse palmoplantar keratoderma 'Autosomal recessive isolated diffuse palmoplantar keratoderma' SubClassOf 'Isolated diffuse palmoplantar keratoderma' 'Autosomal recessive isolated diffuse palmoplantar keratoderma' SubClassOf 'autosomal recessive disease' 'Autosomal recessive isolated diffuse palmoplantar keratoderma' SubClassOf 'Isolated diffuse palmoplantar keratoderma' http://purl.obolibrary.org/obo/CHEBI_2676 amoxicillin 'amoxicillin' SubClassOf 'has_role' some 'antimicrobial agent' http://purl.obolibrary.org/obo/BTO_0000664 obsolete_K-562 cell 'obsolete_K-562 cell' SubClassOf 'obsolete class' 'obsolete_K-562 cell' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_369913 Combined oxidative phosphorylation defect type 17 'Combined oxidative phosphorylation defect type 17' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Combined oxidative phosphorylation defect type 17' SubClassOf 'Mitochondrial disease with hypertrophic cardiomyopathy' 'Combined oxidative phosphorylation defect type 17' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Combined oxidative phosphorylation defect type 17' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000732 'Combined oxidative phosphorylation defect type 17' SubClassOf 'Mitochondrial disease with hypertrophic cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_369939 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome 'Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome' SubClassOf 'Syndromic genetic deafness' 'Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome' SubClassOf 'Rare disorder with dystonia and other neurologic or systemic manifestation' 'Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome' SubClassOf 'Syndromic genetic deafness' 'Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000761 'Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome' SubClassOf 'Rare disorder with dystonia and other neurologic or systemic manifestation' http://purl.obolibrary.org/obo/CHEBI_25629 octadecanoate 'octadecanoate' SubClassOf 'lipid' 'octadecanoate' SubClassOf 'lipid' http://www.orpha.net/ORDO/Orphanet_88993 Esophageal malformation 'Esophageal malformation' SubClassOf 'Genetic digestive tract malformation' 'Esophageal malformation' SubClassOf 'Genetic digestive tract malformation' http://purl.obolibrary.org/obo/BTO_0000690 brain cancer cell line 'brain cancer cell line' SubClassOf 'cultured cell' and ('bearer_of' some 'cancer') http://www.orpha.net/ORDO/Orphanet_370927 SSR4-CDG 'SSR4-CDG' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' 'SSR4-CDG' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'SSR4-CDG' SubClassOf 'Disorder of protein N-glycosylation' 'SSR4-CDG' SubClassOf 'Developmental anomaly of metabolic origin' 'SSR4-CDG' SubClassOf 'congenital disorder of glycosylation type I' 'SSR4-CDG' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' 'SSR4-CDG' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'SSR4-CDG' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'SSR4-CDG' SubClassOf 'Disorder of protein N-glycosylation' http://purl.obolibrary.org/obo/CHEBI_38940 sunitinib 'sunitinib' SubClassOf 'has_role' some 'antineoplastic agent' http://www.orpha.net/ORDO/Orphanet_370921 STT3A-CDG 'STT3A-CDG' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'STT3A-CDG' SubClassOf 'Disorder of protein N-glycosylation' 'STT3A-CDG' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' 'STT3A-CDG' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'STT3A-CDG' SubClassOf 'Disorder of protein N-glycosylation' 'STT3A-CDG' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' 'STT3A-CDG' SubClassOf 'congenital disorder of glycosylation type I' http://purl.obolibrary.org/obo/CHEBI_379896 methyltrienolone 'methyltrienolone' SubClassOf 'has_role' some 'hormone role' http://www.orpha.net/ORDO/Orphanet_370924 STT3B-CDG 'STT3B-CDG' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' 'STT3B-CDG' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'STT3B-CDG' SubClassOf 'Disorder of protein N-glycosylation' 'STT3B-CDG' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' 'STT3B-CDG' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'STT3B-CDG' SubClassOf 'congenital disorder of glycosylation type I' 'STT3B-CDG' SubClassOf 'Disorder of protein N-glycosylation' http://www.orpha.net/ORDO/Orphanet_98364 Rare constitutional hemolytic anemia due to a red cell membrane anomaly 'Rare constitutional hemolytic anemia due to a red cell membrane anomaly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003689 'Rare constitutional hemolytic anemia due to a red cell membrane anomaly' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://www.orpha.net/ORDO/Orphanet_98366 Constitutional hemolytic anemia due to acanthocytosis 'Constitutional hemolytic anemia due to acanthocytosis' SubClassOf 'Rare constitutional hemolytic anemia due to a red cell membrane anomaly' 'Constitutional hemolytic anemia due to acanthocytosis' SubClassOf 'Rare constitutional hemolytic anemia due to a red cell membrane anomaly' http://www.orpha.net/ORDO/Orphanet_98365 Hereditary stomatocytosis 'Hereditary stomatocytosis' SubClassOf 'Rare constitutional hemolytic anemia due to a red cell membrane anomaly' 'Hereditary stomatocytosis' SubClassOf 'Rare constitutional hemolytic anemia due to a red cell membrane anomaly' http://www.orpha.net/ORDO/Orphanet_98369 Rare constitutional hemolytic anemia due to an enzyme disorder 'Rare constitutional hemolytic anemia due to an enzyme disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020585 'Rare constitutional hemolytic anemia due to an enzyme disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004139 'Rare constitutional hemolytic anemia due to an enzyme disorder' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://www.orpha.net/ORDO/Orphanet_369942 CADDS 'CADDS' SubClassOf 'Neurometabolic disease' 'CADDS' SubClassOf 'Developmental anomaly of metabolic origin' 'CADDS' SubClassOf 'Peroxisomal disease' 'CADDS' SubClassOf 'Leukodystrophy' 'CADDS' SubClassOf 'Neurometabolic disease' 'CADDS' SubClassOf 'Developmental anomaly of metabolic origin' 'CADDS' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'CADDS' SubClassOf 'Leukodystrophy' 'CADDS' SubClassOf 'Peroxisomal disease' http://purl.obolibrary.org/obo/CHEBI_2682 amphotericin B 'amphotericin B' SubClassOf 'has_role' some 'antimicrobial agent' http://www.orpha.net/ORDO/Orphanet_98360 Constitutional anemia due to iron metabolism disorder 'Constitutional anemia due to iron metabolism disorder' SubClassOf 'Constitutional deficiency anemia' 'Constitutional anemia due to iron metabolism disorder' SubClassOf 'Constitutional deficiency anemia' http://purl.obolibrary.org/obo/CHEBI_49603 lapatinib 'lapatinib' SubClassOf 'has_role' some 'antineoplastic agent' http://www.orpha.net/ORDO/Orphanet_98362 Constitutional sideroblastic anemia 'Constitutional sideroblastic anemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015194 http://www.orpha.net/ORDO/Orphanet_369929 Aldosterone-producing adenoma with seizures and neurological abnormalities 'Aldosterone-producing adenoma with seizures and neurological abnormalities' SubClassOf 'Genetic hyperaldosteronism' 'Aldosterone-producing adenoma with seizures and neurological abnormalities' SubClassOf 'Familial hyperaldosteronism' 'Aldosterone-producing adenoma with seizures and neurological abnormalities' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016507 http://purl.obolibrary.org/obo/UBERON_2000090 apical ectodermal ridge dorsal fin 'apical ectodermal ridge dorsal fin' SubClassOf http://purl.obolibrary.org/obo/UBERON_0004356 http://www.orpha.net/ORDO/Orphanet_308993 Glycerol kinase deficiency 'Glycerol kinase deficiency' SubClassOf 'Disorder of glycerol metabolism' 'Glycerol kinase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044976 'Glycerol kinase deficiency' SubClassOf 'Disorder of glycerol metabolism' http://purl.obolibrary.org/obo/UBERON_2000096 cardinal system 'cardinal system' SubClassOf http://purl.obolibrary.org/obo/UBERON_0004537 http://purl.obolibrary.org/obo/CLO_0013204 GM17278 'GM17278' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) 'GM17278' SubClassOf 'has_quality' some 'male' 'GM17278' SubClassOf 'cultured cell' http://purl.obolibrary.org/obo/CLO_0013202 GM17275 'GM17275' SubClassOf 'cultured cell' 'GM17275' SubClassOf 'has_quality' some 'female' 'GM17275' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('peripheral vein' and ('part_of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/CHEBI_11009 (R)-3-phenyllactate '(R)-3-phenyllactate' SubClassOf 'chemical entity' '(R)-3-phenyllactate' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_98374 Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder 'Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder' SubClassOf 'Rare constitutional hemolytic anemia due to an enzyme disorder' 'Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder' SubClassOf 'anemia due to enzyme disorder' 'Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder' SubClassOf 'metabolic disease' 'Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder' SubClassOf 'Rare constitutional hemolytic anemia due to an enzyme disorder' 'Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024297 http://www.orpha.net/ORDO/Orphanet_319640 Retinal macular dystrophy type 2 'Retinal macular dystrophy type 2' SubClassOf 'Genetic macular dystrophy' 'Retinal macular dystrophy type 2' SubClassOf 'Genetic macular dystrophy' http://purl.obolibrary.org/obo/CHEBI_25646 octanoate 'octanoate' SubClassOf 'lipid' 'octanoate' SubClassOf 'lipid' http://www.orpha.net/ORDO/Orphanet_98370 Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies 'Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies' SubClassOf 'Rare constitutional hemolytic anemia due to an enzyme disorder' 'Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies' SubClassOf 'anemia due to enzyme disorder' 'Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies' SubClassOf 'Rare constitutional hemolytic anemia due to an enzyme disorder' 'Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies' SubClassOf http://purl.obolibrary.org/obo/MONDO_0056803 http://www.orpha.net/ORDO/Orphanet_98372 Hemolytic anemia due to a disorder of glycolytic enzymes 'Hemolytic anemia due to a disorder of glycolytic enzymes' SubClassOf 'Rare constitutional hemolytic anemia due to an enzyme disorder' 'Hemolytic anemia due to a disorder of glycolytic enzymes' SubClassOf 'Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder' 'Hemolytic anemia due to a disorder of glycolytic enzymes' SubClassOf http://purl.obolibrary.org/obo/MONDO_0037792 'Hemolytic anemia due to a disorder of glycolytic enzymes' SubClassOf http://purl.obolibrary.org/obo/MONDO_0045022 http://www.orpha.net/ORDO/Orphanet_308998 Disorder of glyoxylate metabolism 'Disorder of glyoxylate metabolism' SubClassOf 'Disorder of carbohydrate metabolism' 'Disorder of glyoxylate metabolism' SubClassOf 'Disorder of carbohydrate metabolism' http://www.orpha.net/ORDO/Orphanet_370943 Autism spectrum disorder-epilepsy-arthrogryposis syndrome 'Autism spectrum disorder-epilepsy-arthrogryposis syndrome' SubClassOf 'Disorder of protein N-glycosylation' 'Autism spectrum disorder-epilepsy-arthrogryposis syndrome' SubClassOf 'Distal arthrogryposis' 'Autism spectrum disorder-epilepsy-arthrogryposis syndrome' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' 'Autism spectrum disorder-epilepsy-arthrogryposis syndrome' SubClassOf 'Rare disease with autism' 'Autism spectrum disorder-epilepsy-arthrogryposis syndrome' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'Autism spectrum disorder-epilepsy-arthrogryposis syndrome' SubClassOf 'Congenital disorder of glycosylation with developmental anomaly' 'Autism spectrum disorder-epilepsy-arthrogryposis syndrome' SubClassOf 'Disorder of protein N-glycosylation' 'Autism spectrum disorder-epilepsy-arthrogryposis syndrome' SubClassOf 'Distal arthrogryposis' 'Autism spectrum disorder-epilepsy-arthrogryposis syndrome' SubClassOf 'Rare disease with autism' 'Autism spectrum disorder-epilepsy-arthrogryposis syndrome' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' 'Autism spectrum disorder-epilepsy-arthrogryposis syndrome' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'Autism spectrum disorder-epilepsy-arthrogryposis syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Autism spectrum disorder-epilepsy-arthrogryposis syndrome' SubClassOf 'Congenital disorder of glycosylation with developmental anomaly' http://www.orpha.net/ORDO/Orphanet_319612 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency 'X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency' SubClassOf 'X-linked mendelian susceptibility to mycobacterial diseases' 'X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency' SubClassOf 'X-linked mendelian susceptibility to mycobacterial diseases' http://www.orpha.net/ORDO/Orphanet_284790 Qualitative or quantitative defects of tropomyosin 'Qualitative or quantitative defects of tropomyosin' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' 'Qualitative or quantitative defects of tropomyosin' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' http://www.orpha.net/ORDO/Orphanet_369962 Methylmalonic acidemia with homocystinuria, type cblX 'Methylmalonic acidemia with homocystinuria, type cblX' SubClassOf 'Methylmalonic acidemia with homocystinuria' 'Methylmalonic acidemia with homocystinuria, type cblX' SubClassOf 'Cerebral organic aciduria' 'Methylmalonic acidemia with homocystinuria, type cblX' SubClassOf 'Methylmalonic acidemia with homocystinuria' 'Methylmalonic acidemia with homocystinuria, type cblX' SubClassOf 'X-linked non-syndromic intellectual disability' http://purl.obolibrary.org/obo/BTO_0001967 cervical cancer cell line 'cervical cancer cell line' EquivalentTo 'cultured cell' and ('bearer_of' some 'cervical carcinoma') http://www.orpha.net/ORDO/Orphanet_370938 Salt-and-pepper syndrome 'Salt-and-pepper syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018274 'Salt-and-pepper syndrome' SubClassOf 'Monogenic disease with epilepsy' 'Salt-and-pepper syndrome' SubClassOf 'Genetic pigmentation anomaly of the skin' 'Salt-and-pepper syndrome' SubClassOf 'autosomal recessive disease' http://www.orpha.net/ORDO/Orphanet_98306 Familial partial lipodystrophy 'Familial partial lipodystrophy' SubClassOf 'lipodystrophy' 'Familial partial lipodystrophy' SubClassOf 'Genetic lipodystrophy' 'Familial partial lipodystrophy' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0027767 and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) 'Familial partial lipodystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021106 'Familial partial lipodystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0027767 'Familial partial lipodystrophy' SubClassOf 'lipodystrophy' 'Familial partial lipodystrophy' SubClassOf 'Genetic lipodystrophy' http://www.orpha.net/ORDO/Orphanet_98305 Genetic lipodystrophy 'Genetic lipodystrophy' SubClassOf 'Primary lipodystrophy' 'Genetic lipodystrophy' SubClassOf 'Inborn errors of metabolism' 'Genetic lipodystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 'Genetic lipodystrophy' SubClassOf 'lipodystrophy' 'Genetic lipodystrophy' EquivalentTo 'lipodystrophy' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) 'Genetic lipodystrophy' SubClassOf 'Primary lipodystrophy' http://www.orpha.net/ORDO/Orphanet_319623 X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency 'X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency' SubClassOf 'X-linked mendelian susceptibility to mycobacterial diseases' 'X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency' SubClassOf 'X-linked mendelian susceptibility to mycobacterial diseases' http://www.orpha.net/ORDO/Orphanet_370930 XYLT1-CDG 'XYLT1-CDG' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'XYLT1-CDG' SubClassOf 'Congenital disorder of glycosylation with developmental anomaly' 'XYLT1-CDG' SubClassOf 'Disorder of O-xylosylglycan synthesis' 'XYLT1-CDG' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'XYLT1-CDG' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'XYLT1-CDG' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'XYLT1-CDG' SubClassOf 'Congenital disorder of glycosylation with developmental anomaly' 'XYLT1-CDG' SubClassOf 'Disorder of O-xylosylglycan synthesis' 'XYLT1-CDG' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' http://www.orpha.net/ORDO/Orphanet_370933 ST3GAL5-CDG 'ST3GAL5-CDG' SubClassOf 'Rare syndromic dyslipidemia' http://www.orpha.net/ORDO/Orphanet_99642 Spondyloepimetaphyseal dysplasia, Handigodu type 'Spondyloepimetaphyseal dysplasia, Handigodu type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' 'Spondyloepimetaphyseal dysplasia, Handigodu type' SubClassOf 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia' http://www.orpha.net/ORDO/Orphanet_98313 Male infertility due to gonadal dysgenesis 'Male infertility due to gonadal dysgenesis' SubClassOf 'Male infertility due to gonadal dysgenesis or sperm disorder' 'Male infertility due to gonadal dysgenesis' SubClassOf 'Male infertility due to gonadal dysgenesis or sperm disorder' http://www.orpha.net/ORDO/Orphanet_369950 Intellectual disability-seizures-macrocephaly-obesity syndrome 'Intellectual disability-seizures-macrocephaly-obesity syndrome' SubClassOf 'Complex chromosomal rearrangement' 'Intellectual disability-seizures-macrocephaly-obesity syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Intellectual disability-seizures-macrocephaly-obesity syndrome' SubClassOf 'Syndromic obesity' 'Intellectual disability-seizures-macrocephaly-obesity syndrome' SubClassOf 'Complex chromosomal rearrangement' 'Intellectual disability-seizures-macrocephaly-obesity syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Intellectual disability-seizures-macrocephaly-obesity syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Intellectual disability-seizures-macrocephaly-obesity syndrome' SubClassOf 'Syndromic obesity' 'Intellectual disability-seizures-macrocephaly-obesity syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 http://www.orpha.net/ORDO/Orphanet_99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria 'Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' http://www.orpha.net/ORDO/Orphanet_99645 Dappled diaphyseal dysplasia 'Dappled diaphyseal dysplasia' SubClassOf 'Chondrodysplasia punctata' 'Dappled diaphyseal dysplasia' SubClassOf 'Chondrodysplasia punctata' http://www.orpha.net/ORDO/Orphanet_369955 Methylmalonic acidemia with homocystinuria, type cblJ 'Methylmalonic acidemia with homocystinuria, type cblJ' SubClassOf 'Methylmalonic acidemia with homocystinuria' 'Methylmalonic acidemia with homocystinuria, type cblJ' SubClassOf 'Methylmalonic acidemia with homocystinuria' http://www.ebi.ac.uk/efo/EFO_0008913 scRNA-seq 'scRNA-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008914 scRRBS 'scRRBS' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.orpha.net/ORDO/Orphanet_99647 Cheirospondyloenchondromatosis 'Cheirospondyloenchondromatosis' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' 'Cheirospondyloenchondromatosis' SubClassOf 'Primary bone dysplasia with disorganized development of skeletal components' http://purl.obolibrary.org/obo/CHEBI_2637 amikacin 'amikacin' SubClassOf 'has_role' some 'antimicrobial agent' http://www.ebi.ac.uk/efo/EFO_0008915 scTHS-seq 'scTHS-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008916 scWGBS 'scWGBS' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.orpha.net/ORDO/Orphanet_370968 Congenital muscular dystrophy with intellectual disability 'Congenital muscular dystrophy with intellectual disability' SubClassOf 'Congenital muscular dystrophy due to dystroglycanopathy' 'Congenital muscular dystrophy with intellectual disability' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'Congenital muscular dystrophy with intellectual disability' SubClassOf 'Disorder of O-mannosylglycan synthesis' 'Congenital muscular dystrophy with intellectual disability' SubClassOf 'Congenital muscular dystrophy due to dystroglycanopathy' 'Congenital muscular dystrophy with intellectual disability' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'Congenital muscular dystrophy with intellectual disability' SubClassOf 'Disorder of O-mannosylglycan synthesis' http://www.ebi.ac.uk/efo/EFO_0008910 SCMDA 'SCMDA' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008911 scMT-Seq 'scMT-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008912 scRC-Seq 'scRC-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://purl.obolibrary.org/obo/GO_0007420 brain development 'brain development' SubClassOf 'part_of' some 'central nervous system development' http://www.ebi.ac.uk/efo/EFO_0008917 SELEX 'SELEX' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008918 SELEX-seq 'SELEX-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008919 Seq-Well 'Seq-Well' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.orpha.net/ORDO/Orphanet_370959 Congenital muscular dystrophy with cerebellar involvement 'Congenital muscular dystrophy with cerebellar involvement' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'Congenital muscular dystrophy with cerebellar involvement' SubClassOf 'Congenital muscular dystrophy due to dystroglycanopathy' 'Congenital muscular dystrophy with cerebellar involvement' SubClassOf 'Disorder of O-mannosylglycan synthesis' 'Congenital muscular dystrophy with cerebellar involvement' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'Congenital muscular dystrophy with cerebellar involvement' SubClassOf 'Congenital muscular dystrophy due to dystroglycanopathy' 'Congenital muscular dystrophy with cerebellar involvement' SubClassOf 'Disorder of O-mannosylglycan synthesis' http://www.ebi.ac.uk/efo/EFO_0008902 SAPAS 'SAPAS' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.orpha.net/ORDO/Orphanet_370953 Congenital muscular dystrophy due to dystroglycanopathy 'Congenital muscular dystrophy due to dystroglycanopathy' SubClassOf 'Congenital muscular dystrophy' 'Congenital muscular dystrophy due to dystroglycanopathy' SubClassOf 'Congenital muscular dystrophy' http://www.ebi.ac.uk/efo/EFO_0008903 SC3-seq 'SC3-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008904 scATAC-seq (Microfluidics) 'scATAC-seq (Microfluidics)' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008905 scBS-seq 'scBS-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.orpha.net/ORDO/Orphanet_319600 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency 'Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency' SubClassOf 'Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency' 'Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency' SubClassOf 'Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency' http://www.ebi.ac.uk/efo/EFO_0008900 RRBS 'RRBS' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.orpha.net/ORDO/Orphanet_319605 X-linked mendelian susceptibility to mycobacterial diseases 'X-linked mendelian susceptibility to mycobacterial diseases' SubClassOf 'Mendelian susceptibility to mycobacterial diseases' 'X-linked mendelian susceptibility to mycobacterial diseases' SubClassOf 'Mendelian susceptibility to mycobacterial diseases' http://www.ebi.ac.uk/efo/EFO_0008901 Safe-SeqS 'Safe-SeqS' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.orpha.net/ORDO/Orphanet_369970 Microcornea-myopic chorioretinal atrophy-telecanthus syndrome 'Microcornea-myopic chorioretinal atrophy-telecanthus syndrome' SubClassOf 'Retinal dystrophy' 'Microcornea-myopic chorioretinal atrophy-telecanthus syndrome' SubClassOf 'Genetic developmental defect of the eye' 'Microcornea-myopic chorioretinal atrophy-telecanthus syndrome' SubClassOf 'Retinal dystrophy' 'Microcornea-myopic chorioretinal atrophy-telecanthus syndrome' SubClassOf 'Genetic developmental defect of the eye' http://www.ebi.ac.uk/efo/EFO_0008906 scChIP-seq 'scChIP-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008907 scDNase-seq 'scDNase-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008908 SCI-seq 'SCI-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008909 SCL-exo 'SCL-exo' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.orpha.net/ORDO/Orphanet_282166 Inherited Creutzfeldt-Jakob disease 'Inherited Creutzfeldt-Jakob disease' SubClassOf 'Miscellaneous movement disorder due to genetic neurodegenerative disease' 'Inherited Creutzfeldt-Jakob disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017234 'Inherited Creutzfeldt-Jakob disease' EquivalentTo 'Creutzfeldt Jacob Disease' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) 'Inherited Creutzfeldt-Jakob disease' SubClassOf 'Creutzfeldt Jacob Disease' 'Inherited Creutzfeldt-Jakob disease' SubClassOf 'Miscellaneous movement disorder due to genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_369979 Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome 'Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' http://www.ebi.ac.uk/efo/EFO_0008930 Smart-Seq 'Smart-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.orpha.net/ORDO/Orphanet_330050 Lethal encephalopathy due to mitochondrial and peroxisomal fission defect 'Lethal encephalopathy due to mitochondrial and peroxisomal fission defect' SubClassOf 'Neurometabolic disease' 'Lethal encephalopathy due to mitochondrial and peroxisomal fission defect' SubClassOf 'Mitochondrial oxidative phosphorylation disorder with no known mechanism' 'Lethal encephalopathy due to mitochondrial and peroxisomal fission defect' SubClassOf 'Neurometabolic disease' 'Lethal encephalopathy due to mitochondrial and peroxisomal fission defect' SubClassOf http://purl.obolibrary.org/obo/MONDO_0054865 http://www.orpha.net/ORDO/Orphanet_330054 Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay 'Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay' SubClassOf 'Syndromic genetic deafness' 'Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay' SubClassOf 'Mitochondrial myopathy' 'Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay' SubClassOf 'Syndromic cataract' 'Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' 'Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay' SubClassOf 'Syndromic genetic deafness' 'Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay' SubClassOf 'Mitochondrial myopathy' 'Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay' SubClassOf 'Syndromic cataract' 'Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' http://www.ebi.ac.uk/efo/EFO_0008935 smMIP 'smMIP' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008936 SMORE-Seq 'SMORE-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://purl.obolibrary.org/obo/CHEBI_74534 Leu-Gly 'Leu-Gly' SubClassOf 'amide' 'Leu-Gly' SubClassOf 'amide' http://www.ebi.ac.uk/efo/EFO_0007601 MN1 'MN1' SubClassOf 'derives_from' some ('motor neuron' and ('part_of' some ('spinal cord' and ('part_of' some 'Mus musculus')))) 'MN1' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0008937 snDrop-seq 'snDrop-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0007600 L1-S8R 'L1-S8R' SubClassOf 'derives_from' some ('induced pluripotent stem cell' and ('part_of' some ('bone marrow' and ('part_of' some 'Homo sapiens')))) 'L1-S8R' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0008938 SNES 'SNES' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://purl.obolibrary.org/obo/CHEBI_3901 cosyntropin 'cosyntropin' SubClassOf 'has_role' some 'diagnostic agent' http://www.ebi.ac.uk/efo/EFO_0008931 Smart-seq2 'Smart-seq2' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008932 SMDB 'SMDB' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008933 SMiLE-seq 'SMiLE-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008934 SMIT 'SMIT' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008939 snmC-seq 'snmC-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.orpha.net/ORDO/Orphanet_330041 Autosomal dominant methemoglobinemia 'Autosomal dominant methemoglobinemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002280 'Autosomal dominant methemoglobinemia' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'Autosomal dominant methemoglobinemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019050 http://www.ebi.ac.uk/efo/EFO_0008924 Simul-seq 'Simul-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008925 Single cell ATAC-seq (cell index) 'Single cell ATAC-seq (cell index)' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008926 SITE-Seq 'SITE-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008927 SLAF-Seq 'SLAF-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008920 SeqZip 'SeqZip' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008921 SHAPE-MaP 'SHAPE-MaP' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008922 SHAPE-Seq 'SHAPE-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008923 SiMSen-Seq 'SiMSen-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008928 SLBS 'SLBS' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008929 SMA 'SMA' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://purl.obolibrary.org/obo/PO_0007001 early whole plant fruit ripening stage 'early whole plant fruit ripening stage' SubClassOf 'whole plant fruit ripening stage' 'early whole plant fruit ripening stage' SubClassOf 'whole plant fruit ripening stage' http://www.ebi.ac.uk/efo/EFO_0008950 ssRNA-seq 'ssRNA-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008951 STATseq 'STATseq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008952 Strand-seq 'Strand-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0007621 bone mineral content measurement 'bone mineral content measurement' SubClassOf 'is_about' some 'bone fracture' 'bone mineral content measurement' SubClassOf 'is_about' some 'bone disease' http://www.ebi.ac.uk/efo/EFO_0007620 volumetric bone mineral density 'volumetric bone mineral density' SubClassOf 'is_about' some 'bone disease' 'volumetric bone mineral density' SubClassOf 'is_about' some 'bone fracture' http://www.orpha.net/ORDO/Orphanet_330032 Hemoglobin Lepore - beta-thalassemia 'Hemoglobin Lepore - beta-thalassemia' SubClassOf 'Beta-thalassemia associated with another hemoglobin anomaly' 'Hemoglobin Lepore - beta-thalassemia' SubClassOf 'Beta-thalassemia associated with another hemoglobin anomaly' http://www.ebi.ac.uk/efo/EFO_0008957 T-WGBS 'T-WGBS' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008958 TAB-Seq 'TAB-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008959 TaDa 'TaDa' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://purl.obolibrary.org/obo/CHEBI_85210 N-acetyl-D-methionine 'N-acetyl-D-methionine' SubClassOf 'acid' 'N-acetyl-D-methionine' SubClassOf 'acid' http://www.ebi.ac.uk/efo/EFO_0007629 hemoglobin A1 measurement 'hemoglobin A1 measurement' SubClassOf 'is_about' some 'protein' http://www.ebi.ac.uk/efo/EFO_0008953 STRT 'STRT' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0007628 gas trapping measurement 'gas trapping measurement' SubClassOf 'is_about' some 'respiratory system disease' http://www.ebi.ac.uk/efo/EFO_0008954 STRT-seq-2i 'STRT-seq-2i' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0007627 airway imaging measurement 'airway imaging measurement' SubClassOf 'is_about' some 'respiratory system disease' http://www.ebi.ac.uk/efo/EFO_0008955 Structure-Seq 'Structure-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0007626 emphysema imaging measurement 'emphysema imaging measurement' SubClassOf 'is_about' some 'respiratory system disease' http://www.ebi.ac.uk/efo/EFO_0008956 SUPeR-seq 'SUPeR-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://purl.obolibrary.org/obo/PO_0007014 booting stage 'booting stage' SubClassOf 'IL.00 inflorescence just visible stage' 'booting stage' SubClassOf 'IL.00 inflorescence just visible stage' http://www.ebi.ac.uk/efo/EFO_0008940 snRNA-seq 'snRNA-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008941 sNuc-Seq 'sNuc-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0007610 RWPE2 'RWPE2' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('prostate gland' and ('part_of' some 'Homo sapiens')))) 'RWPE2' SubClassOf 'has_quality' some 'male' http://purl.obolibrary.org/obo/PO_0007029 whole plant fruit formation stage 30 to 50% 'whole plant fruit formation stage 30 to 50%' SubClassOf 'whole plant fruit formation stage' 'whole plant fruit formation stage 30 to 50%' SubClassOf 'whole plant fruit formation stage' http://www.ebi.ac.uk/efo/EFO_0008946 SPLAT 'SPLAT' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008947 sRNA-Seq 'sRNA-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008948 SS3-Seq 'SS3-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0007611 SU-DHL-2 'SU-DHL-2' SubClassOf 'has_quality' some 'female' 'SU-DHL-2' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('lymph node' and ('part_of' some 'Homo sapiens')))) 'SU-DHL-2' SubClassOf 'cultured cell' 'SU-DHL-2' SubClassOf 'bearer_of' some 'lymphoma' http://www.ebi.ac.uk/efo/EFO_0008949 SSB-Seq 'SSB-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008942 Sono-Seq 'Sono-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008943 SPARE 'SPARE' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008944 SpDamID 'SpDamID' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0007615 thrombus formation measurement 'thrombus formation measurement' SubClassOf 'is_about' some 'platelet' http://www.ebi.ac.uk/efo/EFO_0008945 SPET-seq 'SPET-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.orpha.net/ORDO/Orphanet_330029 Hypotrichosis-deafness syndrome 'Hypotrichosis-deafness syndrome' SubClassOf 'Syndromic genetic deafness' 'Hypotrichosis-deafness syndrome' SubClassOf 'Syndromic nail anomaly' 'Hypotrichosis-deafness syndrome' SubClassOf 'Erythrokeratoderma variabilis progressiva' 'Hypotrichosis-deafness syndrome' SubClassOf 'Syndromic genetic deafness' 'Hypotrichosis-deafness syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021034 'Hypotrichosis-deafness syndrome' SubClassOf 'Syndromic nail anomaly' 'Hypotrichosis-deafness syndrome' SubClassOf 'Erythrokeratoderma variabilis progressiva' http://www.orpha.net/ORDO/Orphanet_247798 MUTYH-related attenuated familial adenomatous polyposis 'MUTYH-related attenuated familial adenomatous polyposis' SubClassOf 'Attenuated familial adenomatous polyposis' 'MUTYH-related attenuated familial adenomatous polyposis' SubClassOf 'Attenuated familial adenomatous polyposis' 'MUTYH-related attenuated familial adenomatous polyposis' SubClassOf 'autosomal recessive disease' 'MUTYH-related attenuated familial adenomatous polyposis' SubClassOf 'Familial adenomatous polyposis' http://purl.obolibrary.org/obo/PO_0007027 whole plant fruit formation stage 70% to final size 'whole plant fruit formation stage 70% to final size' SubClassOf 'whole plant fruit formation stage' 'whole plant fruit formation stage 70% to final size' SubClassOf 'whole plant fruit formation stage' http://www.orpha.net/ORDO/Orphanet_247794 Juvenile cataract - microcornea - renal glucosuria 'Juvenile cataract - microcornea - renal glucosuria' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'Juvenile cataract - microcornea - renal glucosuria' SubClassOf 'Syndromic cataract' 'Juvenile cataract - microcornea - renal glucosuria' SubClassOf 'Disorder of carbohydrate absorption and transport' 'Juvenile cataract - microcornea - renal glucosuria' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'Juvenile cataract - microcornea - renal glucosuria' SubClassOf 'Syndromic cataract' 'Juvenile cataract - microcornea - renal glucosuria' SubClassOf 'Disorder of carbohydrate absorption and transport' 'Juvenile cataract - microcornea - renal glucosuria' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_282124 Partial deletion of chromosome 12 'Partial deletion of chromosome 12' SubClassOf 'Partial autosomal monosomy' 'Partial deletion of chromosome 12' SubClassOf 'Partial autosomal monosomy' http://www.orpha.net/ORDO/Orphanet_284786 Qualitative or quantitative defects of troponin 'Qualitative or quantitative defects of troponin' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' 'Qualitative or quantitative defects of troponin' SubClassOf 'Qualitative or quantitative protein defects in neuromuscular diseases' http://www.orpha.net/ORDO/Orphanet_247790 FTH1-related iron overload 'FTH1-related iron overload' SubClassOf 'Disorder of iron metabolism and transport' 'FTH1-related iron overload' SubClassOf http://purl.obolibrary.org/obo/MONDO_0006507 'FTH1-related iron overload' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 http://www.ebi.ac.uk/efo/EFO_0008971 TIVA 'TIVA' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008972 TL-seq 'TL-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008973 TN-Seq 'TN-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008974 Tomo-Seq 'Tomo-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0006311 obsolete_age-related cataract 'obsolete_age-related cataract' SubClassOf 'obsolete class' 'obsolete_age-related cataract' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/GO_0044422 organelle part 'organelle part' EquivalentTo 'cellular component' and ('part_of' some 'organelle') 'organelle part' SubClassOf 'part_of' some 'organelle' http://www.ebi.ac.uk/efo/EFO_0006310 obsolete_hyperopia 'obsolete_hyperopia' SubClassOf 'obsolete class' 'obsolete_hyperopia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MA_0000191 hippocampus 'hippocampus' EquivalentTo 'part_of' some 'hippocampus' 'hippocampus' SubClassOf 'part_of' some 'forebrain' http://www.ebi.ac.uk/efo/EFO_0008970 TIF-Seq 'TIF-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008979 Tuba-seq 'Tuba-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0006315 thiopurine immunosuppressant-induced pancreatitis 'thiopurine immunosuppressant-induced pancreatitis' SubClassOf 'pancreatitis' 'thiopurine immunosuppressant-induced pancreatitis' SubClassOf 'pancreatitis' http://www.ebi.ac.uk/efo/EFO_0007646 amyloid plaque accumulation rate 'amyloid plaque accumulation rate' SubClassOf 'is_about' some 'Alzheimer's disease' 'amyloid plaque accumulation rate' SubClassOf 'is_about' some 'brain' http://www.ebi.ac.uk/efo/EFO_0007645 longitudinal alcohol consumption measurement 'longitudinal alcohol consumption measurement' SubClassOf 'is_about' some 'alcohol drinking' http://www.ebi.ac.uk/efo/EFO_0006313 chemotherapy-induced oral mucositis 'chemotherapy-induced oral mucositis' SubClassOf 'oral mucositis' 'chemotherapy-induced oral mucositis' SubClassOf 'disease' 'chemotherapy-induced oral mucositis' SubClassOf 'stomatitis' 'chemotherapy-induced oral mucositis' SubClassOf 'oral mucositis' 'chemotherapy-induced oral mucositis' SubClassOf 'has_disease_location' some 'mucosa' 'chemotherapy-induced oral mucositis' SubClassOf 'has_disease_location' some ('head' or ('part_of' some 'head')) http://www.ebi.ac.uk/efo/EFO_0008975 TRAP-Seq 'TRAP-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0006319 HIV viral set point measurement 'HIV viral set point measurement' SubClassOf 'is_about' some 'HIV-1 infection' http://www.ebi.ac.uk/efo/EFO_0008976 TRIBE 'TRIBE' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0006318 breast ductal adenocarcinoma 'breast ductal adenocarcinoma' SubClassOf 'breast neoplasm' 'breast ductal adenocarcinoma' SubClassOf 'has_disease_location' some 'mammary gland' http://www.ebi.ac.uk/efo/EFO_0007649 renal elimination rate measurement 'renal elimination rate measurement' SubClassOf 'is_about' some 'renal system' 'renal elimination rate measurement' SubClassOf 'is_about' some 'kidney disease' http://www.ebi.ac.uk/efo/EFO_0008977 TruePrime 'TruePrime' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008978 TSS Sequencing 'TSS Sequencing' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008960 TAIL-seq 'TAIL-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008961 TAmC-Seq 'TAmC-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008962 TARDIS 'TARDIS' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008963 TATL-seq 'TATL-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0006301 Swiss5 'Swiss5' SubClassOf 'cultured cell' 'Swiss5' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0006300 Swiss3 'Swiss3' SubClassOf 'cultured cell' 'Swiss3' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0006305 T87 'T87' SubClassOf 'cultured cell' 'T87' SubClassOf 'bearer_of' some 'normal' http://www.ebi.ac.uk/efo/EFO_0007636 attention function measurement 'attention function measurement' SubClassOf 'is_about' some 'attention deficit hyperactivity disorder' http://www.ebi.ac.uk/efo/EFO_0008968 Term-Seq 'Term-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0006304 T265 'T265' SubClassOf 'derives_from' some ('Schwann cell' and ('part_of' some ('peripheral nervous system' and ('part_of' some 'Homo sapiens')))) 'T265' SubClassOf 'bearer_of' some 'malignant peripheral nerve sheath tumor' 'T265' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0008969 THS-seq 'THS-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0006303 Swiss9 'Swiss9' SubClassOf 'cultured cell' 'Swiss9' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0006302 Swiss8 'Swiss8' SubClassOf 'cultured cell' 'Swiss8' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0006309 plasma plasminogen measurement 'plasma plasminogen measurement' SubClassOf 'is_about' some 'protein' http://www.ebi.ac.uk/efo/EFO_0008964 TC-Seq 'TC-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0006308 V6.5 'V6.5' SubClassOf 'cultured cell' 'V6.5' SubClassOf 'has_quality' some 'male' 'V6.5' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0006307 UKE1 'UKE1' SubClassOf 'cultured cell' 'UKE1' SubClassOf 'bearer_of' some 'acute myeloid leukemia' 'UKE1' SubClassOf 'has_quality' some 'female' http://www.ebi.ac.uk/efo/EFO_0008966 TCR Chain Paring 'TCR Chain Paring' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0006306 TUBO 'TUBO' SubClassOf 'has_quality' some 'female' 'TUBO' SubClassOf 'bearer_of' some 'breast carcinoma' 'TUBO' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0008967 TCR-LA-MC PCR 'TCR-LA-MC PCR' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.orpha.net/ORDO/Orphanet_98396 Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder 'Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder' SubClassOf 'Constitutional deficiency anemia' 'Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder' SubClassOf 'Constitutional deficiency anemia' 'Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000424 'Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001700 http://www.ebi.ac.uk/efo/EFO_0008993 Ex-FISH 'Ex-FISH' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0007660 neuroticism measurement 'neuroticism measurement' SubClassOf 'is_about' some 'mental or behavioural disorder' http://www.ebi.ac.uk/efo/EFO_0008994 spatial transcriptomics 'spatial transcriptomics' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008995 10X sequencing '10X sequencing' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0005002 lysine measurement 'lysine measurement' SubClassOf 'is_about' some 'lysine' http://www.ebi.ac.uk/efo/EFO_0006334 total iron binding capacity 'total iron binding capacity' SubClassOf 'is_about' some ('iron' and ('has_role' some 'biomarker')) 'total iron binding capacity' SubClassOf 'is_about' some 'abnormality of iron homeostasis' http://www.ebi.ac.uk/efo/EFO_0006333 transferrin saturation measurement 'transferrin saturation measurement' SubClassOf 'is_about' some ('iron' and ('has_role' some 'biomarker')) 'transferrin saturation measurement' SubClassOf 'is_about' some 'abnormality of iron homeostasis' http://www.ebi.ac.uk/efo/EFO_0008990 FISSEQ 'FISSEQ' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://purl.obolibrary.org/obo/GO_0044444 cytoplasmic part 'cytoplasmic part' SubClassOf 'part_of' some 'cytoplasm' 'cytoplasmic part' EquivalentTo 'cellular component' and ('part_of' some 'cytoplasm') http://www.ebi.ac.uk/efo/EFO_0005000 leptin measurement 'leptin measurement' SubClassOf 'is_about' some 'obesity' 'leptin measurement' SubClassOf 'is_about' some 'leptin' http://www.ebi.ac.uk/efo/EFO_0006332 serum iron measurement 'serum iron measurement' SubClassOf 'is_about' some ('iron' and ('has_role' some 'biomarker')) 'serum iron measurement' SubClassOf 'is_about' some 'hereditary hemochromatosis type 1' http://www.ebi.ac.uk/efo/EFO_0007663 childhood aggressive behaviour measurement 'childhood aggressive behaviour measurement' SubClassOf 'is_about' some 'aggressive behavior' 'childhood aggressive behaviour measurement' SubClassOf 'is_about' some 'mental or behavioural disorder' http://www.ebi.ac.uk/efo/EFO_0008991 seqFISH 'seqFISH' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0005001 phenylalanine measurement 'phenylalanine measurement' SubClassOf 'is_about' some 'Phenylketonuria' 'phenylalanine measurement' SubClassOf 'is_about' some 'phenylalanine' http://www.ebi.ac.uk/efo/EFO_0006331 selenium measurement 'selenium measurement' SubClassOf 'is_about' some 'selenium' http://www.ebi.ac.uk/efo/EFO_0008992 MERFISH 'MERFISH' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0006338 pit and fissure surface dental caries 'pit and fissure surface dental caries' SubClassOf 'dental caries' 'pit and fissure surface dental caries' SubClassOf 'dental caries' http://www.ebi.ac.uk/efo/EFO_0006337 response to allopurinol 'response to allopurinol' SubClassOf 'is_about' some 'allopurinol' http://www.orpha.net/ORDO/Orphanet_319675 Microcephalic primordial dwarfism, Dauber type 'Microcephalic primordial dwarfism, Dauber type' SubClassOf 'Microcephalic primordial dwarfism' 'Microcephalic primordial dwarfism, Dauber type' SubClassOf 'Seckel syndrome' http://www.orpha.net/ORDO/Orphanet_319678 Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease 'Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease' SubClassOf 'Mitochondrial disease with hypertrophic cardiomyopathy' 'Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease' SubClassOf 'Coenzyme Q10 deficiency' 'Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease' SubClassOf 'Mitochondrial disease with hypertrophic cardiomyopathy' 'Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease' SubClassOf 'Coenzyme Q10 deficiency' http://www.ebi.ac.uk/efo/EFO_0008997 synovitis 'synovitis' SubClassOf 'has_disease_location' some ('synovial membrane' or ('part_of' some 'synovial membrane')) http://www.ebi.ac.uk/efo/EFO_0006339 smooth surface dental caries 'smooth surface dental caries' SubClassOf 'dental caries' 'smooth surface dental caries' SubClassOf 'dental caries' http://www.orpha.net/ORDO/Orphanet_319671 Microcephalic primordial dwarfism, Alazami type 'Microcephalic primordial dwarfism, Alazami type' SubClassOf 'Microcephalic primordial dwarfism' 'Microcephalic primordial dwarfism, Alazami type' SubClassOf 'Microcephalic primordial dwarfism' http://purl.obolibrary.org/obo/GO_0044435 plastid part 'plastid part' EquivalentTo 'cellular component' and ('part_of' some 'plastid') 'plastid part' SubClassOf 'part_of' some 'plastid' http://www.orpha.net/ORDO/Orphanet_369902 Orofaciodigital syndrome type 14 'Orofaciodigital syndrome type 14' SubClassOf 'Orofaciodigital syndrome' 'Orofaciodigital syndrome type 14' SubClassOf 'Orofaciodigital syndrome' 'Orofaciodigital syndrome type 14' SubClassOf 'Syndrome with microcephaly as major feature' 'Orofaciodigital syndrome type 14' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Orofaciodigital syndrome type 14' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 http://www.ebi.ac.uk/efo/EFO_0007650 soluble interleukin-2 receptor subunit alpha measurement 'soluble interleukin-2 receptor subunit alpha measurement' SubClassOf 'is_about' some 'interleukin' http://www.ebi.ac.uk/efo/EFO_0008982 VirCapSeq-VERT 'VirCapSeq-VERT' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008983 VirScan 'VirScan' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008984 WGA-X 'WGA-X' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://purl.obolibrary.org/obo/GO_0044430 cytoskeletal part 'cytoskeletal part' EquivalentTo 'cellular component' and ('part_of' some 'cytoskeleton') 'cytoskeletal part' SubClassOf 'part_of' some 'cytoskeleton' http://www.ebi.ac.uk/efo/EFO_0008985 WGBS 'WGBS' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://purl.obolibrary.org/obo/GO_0044433 cytoplasmic vesicle part 'cytoplasmic vesicle part' SubClassOf 'part_of' some 'cytoplasmic vesicle' 'cytoplasmic vesicle part' EquivalentTo 'cellular component' and ('part_of' some 'cytoplasmic vesicle') http://www.ebi.ac.uk/efo/EFO_0008980 UMI Method 'UMI Method' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://purl.obolibrary.org/obo/GO_0044434 chloroplast part 'chloroplast part' EquivalentTo 'cellular component' and ('part_of' some 'chloroplast') 'chloroplast part' SubClassOf 'part_of' some 'chloroplast' http://www.ebi.ac.uk/efo/EFO_0008981 VDJ-Seq 'VDJ-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0007657 cerebrospinal fluid clusterin measurement 'cerebrospinal fluid clusterin measurement' SubClassOf 'is_about' some 'Alzheimer's disease' http://www.ebi.ac.uk/efo/EFO_0007656 plasma clusterin measurement 'plasma clusterin measurement' SubClassOf 'is_about' some 'Alzheimer's disease' http://www.ebi.ac.uk/efo/EFO_0007655 clusterin measurement 'clusterin measurement' SubClassOf 'is_about' some 'lipoprotein' 'clusterin measurement' SubClassOf 'is_about' some 'glycoprotein' http://www.ebi.ac.uk/efo/EFO_0008986 X-ChIP-seq 'X-ChIP-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008987 YAMAT-Seq 'YAMAT-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008988 Ψ-seq 'Ψ-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008989 ISS 'ISS' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://purl.obolibrary.org/obo/GO_0044424 intracellular part 'intracellular part' EquivalentTo 'cellular component' and ('part_of' some 'intracellular') 'intracellular part' SubClassOf 'part_of' some 'intracellular' http://purl.obolibrary.org/obo/GO_0044425 membrane part 'membrane part' SubClassOf 'part_of' some 'membrane' 'membrane part' EquivalentTo 'cellular component' and ('part_of' some 'membrane') http://purl.obolibrary.org/obo/GO_0044428 nuclear part 'nuclear part' SubClassOf 'part_of' some 'nucleus' 'nuclear part' EquivalentTo 'cellular component' and ('part_of' some 'nucleus') http://purl.obolibrary.org/obo/GO_0044429 mitochondrial part 'mitochondrial part' SubClassOf 'part_of' some 'mitochondrion' 'mitochondrial part' EquivalentTo 'cellular component' and ('part_of' some 'mitochondrion') http://www.ebi.ac.uk/efo/EFO_0008894 RICC-seq 'RICC-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008895 RIL-seq 'RIL-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008896 RNA-Seq 'RNA-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008897 RNAtag-Seq 'RNAtag-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008890 rG4-seq 'rG4-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008891 Ribo-Seq 'Ribo-Seq' SubClassOf 'DNA assay' 'Ribo-Seq' SubClassOf 'RNA assay' 'Ribo-Seq' SubClassOf 'assay by sequencer' 'Ribo-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008892 RiboMeth-seq 'RiboMeth-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008893 Ribose-seq 'Ribose-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://purl.obolibrary.org/obo/UBERON_6007435 obsolete_endocrine system components 'obsolete_endocrine system components' SubClassOf 'obsolete class' 'obsolete_endocrine system components' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0008898 RNET-seq 'RNET-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008899 RPL 'RPL' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008883 RBBS 'RBBS' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008884 RBNS 'RBNS' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008885 RC-Seq 'RC-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008886 RedBS-Seq 'RedBS-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0007555 high content screening stage 'high content screening stage' SubClassOf 'is_about' some 'high content analysis of cells' http://www.ebi.ac.uk/efo/EFO_0008880 RAP 'RAP' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008881 Rapture 'Rapture' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008882 RARseq 'RARseq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.orpha.net/ORDO/Orphanet_163596 Hb Bart's hydrops fetalis 'Hb Bart's hydrops fetalis' SubClassOf 'Alpha-thalassemia' 'Hb Bart's hydrops fetalis' SubClassOf 'Alpha-thalassemia' 'Hb Bart's hydrops fetalis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000577 'Hb Bart's hydrops fetalis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015193 http://www.ebi.ac.uk/efo/EFO_0008887 Rep-Seq 'Rep-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008888 RepeatSeq 'RepeatSeq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008889 Repli-Seq 'Repli-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0007584 blood zinc measurement 'blood zinc measurement' SubClassOf 'is_about' some 'Zinc' http://purl.obolibrary.org/obo/UBERON_0005609 iliac artery 'iliac artery' SubClassOf 'artery' 'iliac artery' SubClassOf http://purl.obolibrary.org/obo/UBERON_0004573 'iliac artery' DisjointWith http://purl.obolibrary.org/obo/UBERON_0005628 http://www.ebi.ac.uk/efo/EFO_0007589 etiolation 'culture condition:dark-grown cell' EquivalentTo 'etiolation' http://www.ebi.ac.uk/efo/EFO_0007591 bone mineral accretion measurement 'bone mineral accretion measurement' SubClassOf 'is_about' some 'bone' 'bone mineral accretion measurement' SubClassOf 'is_about' some 'bone density' http://www.ebi.ac.uk/efo/EFO_0007576 blood cadmium measurement 'blood cadmium measurement' SubClassOf 'is_about' some 'cadmium' http://www.ebi.ac.uk/efo/EFO_0007575 blood aluminium measurement 'blood aluminium measurement' SubClassOf 'is_about' some 'aluminium' http://www.ebi.ac.uk/efo/EFO_0007579 blood chromium measurement 'blood chromium measurement' SubClassOf 'is_about' some 'chromium' http://purl.obolibrary.org/obo/CHEBI_50498 vaccenate(1-) 'vaccenate(1-)' SubClassOf 'lipid' 'vaccenate(1-)' SubClassOf 'lipid' http://www.ebi.ac.uk/efo/EFO_0007578 blood copper measurement 'blood copper measurement' SubClassOf 'is_about' some 'copper' http://www.orpha.net/ORDO/Orphanet_247709 Multiple endocrine neoplasia type 2B 'Multiple endocrine neoplasia type 2B' SubClassOf 'Multiple endocrine neoplasia type 2' 'Multiple endocrine neoplasia type 2B' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019116 'Multiple endocrine neoplasia type 2B' SubClassOf 'Multiple endocrine neoplasia type 2' 'Multiple endocrine neoplasia type 2B' SubClassOf 'renal carcinoma' 'Multiple endocrine neoplasia type 2B' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000426 'Multiple endocrine neoplasia type 2B' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002814 'Multiple endocrine neoplasia type 2B' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002095 http://purl.obolibrary.org/obo/CHEBI_295975 choline phosphate(1-) 'choline phosphate(1-)' SubClassOf 'chemical entity' 'choline phosphate(1-)' SubClassOf 'chemical entity' http://www.ebi.ac.uk/efo/EFO_0006275 ES-E14TG2a 'ES-E14TG2a' SubClassOf 'cultured cell' 'ES-E14TG2a' SubClassOf 'part_of' some 'embryo' 'ES-E14TG2a' SubClassOf 'derives_from' some 'embryonic stem cell' 'ES-E14TG2a' SubClassOf 'part_of' some 'Mus musculus' 'ES-E14TG2a' SubClassOf 'bearer_of' some 'normal' http://www.ebi.ac.uk/efo/EFO_0006274 DT40 'DT40' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('blood' and ('part_of' some 'Gallus gallus')))) 'DT40' SubClassOf 'bearer_of' some 'AVL induced bursal lymphoma' 'DT40' SubClassOf 'cultured cell' 'DT40' SubClassOf 'has_quality' some 'female' http://www.ebi.ac.uk/efo/EFO_0006273 CGR8 'CGR8' SubClassOf 'cultured cell' 'CGR8' SubClassOf 'bearer_of' some 'normal' http://www.ebi.ac.uk/efo/EFO_0006279 HPAF1 'HPAF1' SubClassOf 'bearer_of' some 'normal' 'HPAF1' SubClassOf 'cultured cell' 'HPAF1' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('saliva-secreting gland' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0006278 GM5659 'GM5659' SubClassOf 'bearer_of' some 'normal' 'GM5659' SubClassOf 'derives_from' some ('fibroblast' and ('part_of' some ('skin of body' and ('part_of' some 'Homo sapiens')))) 'GM5659' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0006277 GM15851 'GM15851' SubClassOf 'bearer_of' some 'normal' 'GM15851' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('blood' and ('part_of' some 'Homo sapiens')))) 'GM15851' SubClassOf 'has_quality' some 'male' 'GM15851' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0006276 GM15850 'GM15850' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('blood' and ('part_of' some 'Homo sapiens')))) 'GM15850' SubClassOf 'has_quality' some 'male' 'GM15850' SubClassOf 'bearer_of' some 'Friedreich ataxia' 'GM15850' SubClassOf 'cultured cell' http://www.orpha.net/ORDO/Orphanet_221139 Combined immunodeficiency with facio-oculo-skeletal anomalies 'Combined immunodeficiency with facio-oculo-skeletal anomalies' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043007 'Combined immunodeficiency with facio-oculo-skeletal anomalies' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018035 http://www.orpha.net/ORDO/Orphanet_247765 X-linked cerebellar ataxia 'X-linked cerebellar ataxia' SubClassOf 'hereditary ataxia' 'X-linked cerebellar ataxia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000425 http://www.ebi.ac.uk/efo/EFO_0006282 KM12 'KM12' SubClassOf 'cancer cell line' 'KM12' SubClassOf 'colorectal cancer cell line' 'KM12' SubClassOf 'cultured cell' 'KM12' SubClassOf 'bearer_of' some 'colorectal adenocarcinoma' 'KM12' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('colon' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0006281 JinB8 'JinB8' SubClassOf 'bearer_of' some 'leukemia' 'JinB8' SubClassOf 'has_quality' some 'male' 'JinB8' SubClassOf 'cultured cell' 'JinB8' SubClassOf 'derives_from' some ('T cell' and ('part_of' some ('blood' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0006280 HPAM1 'HPAM1' SubClassOf 'cultured cell' 'HPAM1' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('saliva-secreting gland' and ('part_of' some 'Homo sapiens')))) 'HPAM1' SubClassOf 'bearer_of' some 'normal' http://www.ebi.ac.uk/efo/EFO_0007593 chromatid break measurement 'chromatid break measurement' SubClassOf 'is_about' some 'DNA' 'chromatid break measurement' SubClassOf 'is_about' some 'genome' http://www.ebi.ac.uk/efo/EFO_0007592 response to bleomycin 'response to bleomycin' SubClassOf 'is_about' some 'bleomycin' http://www.ebi.ac.uk/efo/EFO_0006268 A431 'A431' SubClassOf 'has_quality' some 'female' 'A431' SubClassOf 'cultured cell' 'A431' SubClassOf 'bearer_of' some 'squamous cell carcinoma' 'A431' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('skin of body' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0007599 L1-S8 'L1-S8' SubClassOf 'derives_from' some ('induced pluripotent stem cell' and ('part_of' some ('bone marrow' and ('part_of' some 'Homo sapiens')))) 'L1-S8' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0006267 obsolete_90-8TL 'obsolete_90-8TL' SubClassOf 'obsolete class' 'obsolete_90-8TL' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0007598 HAP-1 'HAP-1' SubClassOf 'cultured cell' 'HAP-1' SubClassOf 'has_quality' some 'male' 'HAP-1' SubClassOf 'bearer_of' some 'chronic myelogenous leukemia' http://www.ebi.ac.uk/efo/EFO_0006266 sum of skinfolds 'sum of skinfolds' SubClassOf 'is_about' some 'adipose tissue' http://www.ebi.ac.uk/efo/EFO_0006269 ACH-3P 'ACH-3P' SubClassOf 'bearer_of' some 'normal' 'ACH-3P' SubClassOf 'derives_from' some ('trophoblast cell' and ('part_of' some ('placenta' and ('part_of' some 'Homo sapiens')))) 'ACH-3P' SubClassOf 'cultured cell' http://www.orpha.net/ORDO/Orphanet_221126 Fowler syndrome 'Fowler syndrome' SubClassOf 'Genetic syndrome with a central nervous system malformation as major feature' 'Fowler syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017120 'Fowler syndrome' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_221120 Pseudoaminopterin syndrome 'Pseudoaminopterin syndrome' SubClassOf 'Syndromic craniosynostosis' 'Pseudoaminopterin syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Pseudoaminopterin syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 'Pseudoaminopterin syndrome' SubClassOf 'Syndromic craniosynostosis' 'Pseudoaminopterin syndrome' SubClassOf 'Rare genetic neurological disorder' 'Pseudoaminopterin syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Pseudoaminopterin syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.ebi.ac.uk/efo/EFO_0006271 ARPE-19 'ARPE-19' SubClassOf 'bearer_of' some 'normal' 'ARPE-19' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('retina' and ('part_of' some 'Homo sapiens')))) 'ARPE-19' SubClassOf 'cultured cell' 'ARPE-19' SubClassOf 'has_quality' some 'male' http://www.ebi.ac.uk/efo/EFO_0006270 AG04450 'AG04450' SubClassOf 'bearer_of' some 'normal' 'AG04450' SubClassOf 'has_quality' some 'male' 'AG04450' SubClassOf 'cultured cell' 'AG04450' SubClassOf 'derives_from' some ('fibroblast' and ('part_of' some ('lung' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0006297 Swiss19 'Swiss19' SubClassOf 'cultured cell' 'Swiss19' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0006296 STS26T 'STS26T' SubClassOf 'bearer_of' some 'malignant peripheral nerve sheath tumor' 'STS26T' SubClassOf 'cultured cell' 'STS26T' SubClassOf 'derives_from' some ('Schwann cell' and ('part_of' some ('peripheral nervous system' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0006295 ST88-14 'ST88-14' SubClassOf 'derives_from' some ('Schwann cell' and ('part_of' some ('peripheral nervous system' and ('part_of' some 'Homo sapiens')))) 'ST88-14' SubClassOf 'bearer_of' some 'malignant peripheral nerve sheath tumor' 'ST88-14' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0006294 SHEP 'SHEP' SubClassOf 'bearer_of' some 'neuroblastoma' 'SHEP' SubClassOf 'derives_from' some ('epithelial cell' and ('part_of' some ('bone marrow' and ('part_of' some 'Homo sapiens')))) 'SHEP' SubClassOf 'cultured cell' 'SHEP' SubClassOf 'has_quality' some 'female' http://purl.obolibrary.org/obo/CHEBI_36165 pimelate(2-) 'pimelate(2-)' SubClassOf 'chemical entity' 'pimelate(2-)' SubClassOf 'chemical entity' http://www.ebi.ac.uk/efo/EFO_0006299 Swiss22 'Swiss22' SubClassOf 'cultured cell' 'Swiss22' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0006298 Swiss2 'Swiss2' SubClassOf 'cultured cell' 'Swiss2' SubClassOf 'cultured cell' http://purl.obolibrary.org/obo/CHEBI_50469 phospholipase A2 inhibitor 'phospholipase A2 inhibitor' SubClassOf 'inheres_in' some 'chemical entity' http://purl.obolibrary.org/obo/UBERON_2001312 dorsal anterior lateral line ganglion 'dorsal anterior lateral line ganglion' SubClassOf 'zebrafish component' 'dorsal anterior lateral line ganglion' SubClassOf 'cranial ganglion' 'dorsal anterior lateral line ganglion' SubClassOf 'develops_from' some 'lateral line system' 'dorsal anterior lateral line ganglion' SubClassOf 'develops_from' some 'neurogenic placode' 'dorsal anterior lateral line ganglion' SubClassOf 'anterior lateral line ganglion' 'dorsal anterior lateral line ganglion' SubClassOf 'part_of' some 'lateral line system' http://purl.obolibrary.org/obo/UBERON_2001313 ventral anterior lateral line ganglion 'ventral anterior lateral line ganglion' SubClassOf 'zebrafish component' 'ventral anterior lateral line ganglion' SubClassOf 'anterior lateral line ganglion' http://purl.obolibrary.org/obo/UBERON_2001314 posterior lateral line ganglion 'posterior lateral line ganglion' SubClassOf 'zebrafish component' 'posterior lateral line ganglion' DisjointWith 'anterior lateral line ganglion' 'posterior lateral line ganglion' SubClassOf 'lateral line ganglion' http://purl.obolibrary.org/obo/UBERON_2001316 anterior lateral line placode 'anterior lateral line placode' SubClassOf 'zebrafish embryonic structure' 'anterior lateral line placode' SubClassOf http://purl.obolibrary.org/obo/UBERON_0003067 'posterior lateral line placode' DisjointWith 'anterior lateral line placode' http://purl.obolibrary.org/obo/GO_0031090 organelle membrane 'organelle membrane' SubClassOf 'part_of' some 'membrane-bounded organelle' http://www.orpha.net/ORDO/Orphanet_221150 Pitt-Hopkins-like syndrome 'Pitt-Hopkins-like syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Pitt-Hopkins-like syndrome' SubClassOf 'Cortical dysplasia - focal epilepsy syndrome' 'Pitt-Hopkins-like syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002320 'Pitt-Hopkins-like syndrome' SubClassOf 'Monogenic disease with epilepsy' 'Pitt-Hopkins-like syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000508 http://purl.obolibrary.org/obo/UBERON_0006908 fast muscle tissue 'fast muscle tissue' SubClassOf 'skeletal muscle tissue' http://www.ebi.ac.uk/efo/EFO_0006286 MGC-803 'MGC-803' SubClassOf 'cultured cell' 'MGC-803' SubClassOf 'bearer_of' some 'gastric carcinoma' http://www.ebi.ac.uk/efo/EFO_0006285 MEC2 'MEC2' SubClassOf 'bearer_of' some 'chronic lymphocytic leukemia' 'MEC2' SubClassOf 'cultured cell' 'MEC2' SubClassOf 'has_quality' some 'male' 'MEC2' SubClassOf 'derives_from' some ('B cell' and ('part_of' some ('blood' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0006284 LOXIMVI 'LOXIMVI' SubClassOf 'bearer_of' some 'melanoma' 'LOXIMVI' SubClassOf 'cultured cell' 'LOXIMVI' SubClassOf 'has_quality' some 'male' http://www.ebi.ac.uk/efo/EFO_0006283 KOPT-K1 'KOPT-K1' SubClassOf 'derives_from' some ('T cell' and ('part_of' some ('blood' and ('part_of' some 'Homo sapiens')))) 'KOPT-K1' SubClassOf 'bearer_of' some 'T-cell acute lymphoblastic leukemia' 'KOPT-K1' SubClassOf 'cultured cell' http://purl.obolibrary.org/obo/UBERON_0006904 head mesenchyme from mesoderm 'head mesenchyme from mesoderm' SubClassOf 'head mesenchyme' 'head mesenchyme from mesoderm' SubClassOf 'develops_from' some 'axial mesoderm' 'head mesenchyme from mesoderm' SubClassOf 'head mesenchyme' 'head mesenchyme from mesoderm' SubClassOf 'develops_from' some 'mesoderm' 'head mesenchyme from mesoderm' EquivalentTo 'head mesenchyme' and ('develops_from' some 'mesoderm') http://www.ebi.ac.uk/efo/EFO_0006289 OCI-AML3 'OCI-AML3' SubClassOf 'has_quality' some 'male' 'OCI-AML3' SubClassOf 'bearer_of' some 'acute myeloid leukemia' 'OCI-AML3' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0006288 NF90-8 'NF90-8' SubClassOf 'cultured cell' 'NF90-8' SubClassOf 'bearer_of' some 'malignant peripheral nerve sheath tumor' 'NF90-8' SubClassOf 'bearer_of' some 'Neurofibromatosis type 1' http://www.ebi.ac.uk/efo/EFO_0006287 Mono Mac 6 'Mono Mac 6' SubClassOf 'cultured cell' 'Mono Mac 6' SubClassOf 'derives_from' some ('monocyte' and ('part_of' some ('blood' and ('part_of' some 'Homo sapiens')))) 'Mono Mac 6' SubClassOf 'bearer_of' some 'acute monocytic leukemia' 'Mono Mac 6' SubClassOf 'has_quality' some 'male' http://purl.obolibrary.org/obo/UBERON_2001300 vagal placode 4 'vagal placode 4' SubClassOf 'zebrafish embryonic structure' 'vagal placode 4' SubClassOf 'epibranchial placode' http://purl.obolibrary.org/obo/UBERON_2001302 vagal ganglion 1 'vagal ganglion 1' SubClassOf http://purl.obolibrary.org/obo/UBERON_0009127 http://purl.obolibrary.org/obo/UBERON_2001303 vagal ganglion 2 'vagal ganglion 2' SubClassOf http://purl.obolibrary.org/obo/UBERON_0009127 http://purl.obolibrary.org/obo/UBERON_2001304 vagal ganglion 3 'vagal ganglion 3' SubClassOf http://purl.obolibrary.org/obo/UBERON_0009127 http://purl.obolibrary.org/obo/UBERON_2001305 vagal ganglion 4 'vagal ganglion 4' SubClassOf http://purl.obolibrary.org/obo/UBERON_0009127 http://www.orpha.net/ORDO/Orphanet_221145 Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies 'Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies' SubClassOf 'Cutis laxa' 'Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies' SubClassOf 'Cutis laxa' 'Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies' SubClassOf 'autosomal recessive disease' http://www.ebi.ac.uk/efo/EFO_0006293 SGC-7901 'SGC-7901' SubClassOf 'cultured cell' 'SGC-7901' SubClassOf 'has_quality' some 'female' 'SGC-7901' SubClassOf 'cultured cell' 'SGC-7901' SubClassOf 'bearer_of' some 'stomach neoplasm' http://www.ebi.ac.uk/efo/EFO_0006292 S462 'S462' SubClassOf 'cultured cell' 'S462' SubClassOf 'bearer_of' some 'malignant peripheral nerve sheath tumor' 'S462' SubClassOf 'derives_from' some ('Schwann cell' and ('part_of' some ('peripheral nervous system' and ('part_of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0006291 PLC/PRF/5 'PLC/PRF/5' SubClassOf 'has_quality' some 'male' 'PLC/PRF/5' SubClassOf 'cultured cell' 'PLC/PRF/5' SubClassOf 'bearer_of' some 'hepatocellular carcinoma' http://purl.obolibrary.org/obo/CHEBI_36149 2-hydroxyglutarate(1-) '2-hydroxyglutarate(1-)' SubClassOf 'chemical entity' '2-hydroxyglutarate(1-)' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_75501 Ehlers-Danlos syndrome, fibronectinemic type 'Ehlers-Danlos syndrome, fibronectinemic type' SubClassOf 'Ehlers-Danlos syndrome' 'Ehlers-Danlos syndrome, fibronectinemic type' SubClassOf 'Ehlers-Danlos syndrome' 'Ehlers-Danlos syndrome, fibronectinemic type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017142 'Ehlers-Danlos syndrome, fibronectinemic type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0009332 http://purl.obolibrary.org/obo/CHEBI_62423 (2-hydroxyphenyl)acetate '(2-hydroxyphenyl)acetate' SubClassOf 'chemical entity' '(2-hydroxyphenyl)acetate' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_307711 Disease with diffuse palmoplantar keratoderma as a major feature 'Disease with diffuse palmoplantar keratoderma as a major feature' SubClassOf 'Diffuse palmoplantar keratoderma' 'Disease with diffuse palmoplantar keratoderma as a major feature' SubClassOf 'Diffuse palmoplantar keratoderma' http://www.orpha.net/ORDO/Orphanet_369992 Severe dermatitis-multiple allergies-metabolic wasting syndrome 'Severe dermatitis-multiple allergies-metabolic wasting syndrome' SubClassOf 'Other immunodeficiency syndrome due to defects in adaptive immunity' 'Severe dermatitis-multiple allergies-metabolic wasting syndrome' SubClassOf 'Other genetic epidermal disease' 'Severe dermatitis-multiple allergies-metabolic wasting syndrome' SubClassOf 'allergy' 'Severe dermatitis-multiple allergies-metabolic wasting syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 'Severe dermatitis-multiple allergies-metabolic wasting syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019274 'Severe dermatitis-multiple allergies-metabolic wasting syndrome' SubClassOf 'Hyper-IgE syndrome' 'Severe dermatitis-multiple allergies-metabolic wasting syndrome' SubClassOf 'Other genetic epidermal disease' http://www.orpha.net/ORDO/Orphanet_370980 Congenital muscular dystrophy without intellectual disability 'Congenital muscular dystrophy without intellectual disability' SubClassOf 'Congenital muscular dystrophy due to dystroglycanopathy' 'Congenital muscular dystrophy without intellectual disability' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 'Congenital muscular dystrophy without intellectual disability' SubClassOf 'Disorder of O-mannosylglycan synthesis' 'Congenital muscular dystrophy without intellectual disability' SubClassOf 'Congenital muscular dystrophy due to dystroglycanopathy' 'Congenital muscular dystrophy without intellectual disability' SubClassOf 'Congenital disorder of glycosylation with neurological involvement' 'Congenital muscular dystrophy without intellectual disability' SubClassOf 'Disorder of O-mannosylglycan synthesis' http://www.orpha.net/ORDO/Orphanet_369999 Diffuse palmoplantar keratoderma with painful fissures 'Diffuse palmoplantar keratoderma with painful fissures' SubClassOf 'Autosomal dominant isolated diffuse palmoplantar keratoderma' 'Diffuse palmoplantar keratoderma with painful fissures' SubClassOf 'Autosomal dominant isolated diffuse palmoplantar keratoderma' http://purl.obolibrary.org/obo/CHEBI_38786 phosmet 'phosmet' SubClassOf 'has_role' some 'agrochemical role' http://purl.obolibrary.org/obo/UBERON_0003027 cingulate cortex 'cingulate cortex' SubClassOf 'part_of' some 'cerebral cortex' http://purl.obolibrary.org/obo/CHEBI_24148 galactonate 'galactonate' SubClassOf 'chemical entity' 'galactonate' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy 'Muscle-eye-brain disease with bilateral multicystic leucodystrophy' SubClassOf 'Primary qualitative or quantitative defects of alpha-dystroglycan' 'Muscle-eye-brain disease with bilateral multicystic leucodystrophy' SubClassOf 'Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies' 'Muscle-eye-brain disease with bilateral multicystic leucodystrophy' SubClassOf 'Primary qualitative or quantitative defects of alpha-dystroglycan' 'Muscle-eye-brain disease with bilateral multicystic leucodystrophy' SubClassOf 'Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies' http://purl.obolibrary.org/obo/UBERON_0004363 aortic arch pharyngeal arch artery 'pharyngeal arch artery' SubClassOf 'artery' 'pharyngeal arch artery' SubClassOf 'embryonic structure' 'pharyngeal arch artery' SubClassOf 'part_of' some 'chordate pharynx' 'pharyngeal arch artery' SubClassOf http://purl.obolibrary.org/obo/UBERON_0003469 'pharyngeal arch artery' SubClassOf 'artery' 'pharyngeal arch artery' SubClassOf 'part_of' some 'embryo' 'pharyngeal arch artery' SubClassOf http://purl.obolibrary.org/obo/UBERON_0006598 'pharyngeal arch artery' SubClassOf http://purl.obolibrary.org/obo/UBERON_0003496 'pharyngeal arch artery' SubClassOf 'part_of' some 'pharyngeal arch' 'pharyngeal arch artery' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_2000083 ventral mesoderm 'ventral mesoderm' SubClassOf 'zebrafish component' 'ventral mesoderm' SubClassOf 'mesoderm' http://www.orpha.net/ORDO/Orphanet_223713 Mitochondrial oxidative phosphorylation disorder 'Mitochondrial oxidative phosphorylation disorder' SubClassOf 'Mitochondrial disease' 'Mitochondrial oxidative phosphorylation disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004069 'Mitochondrial oxidative phosphorylation disorder' SubClassOf 'Disorder of purine or pyrimidine metabolism' http://purl.obolibrary.org/obo/CHEBI_24127 fungicide 'fungicide' SubClassOf 'inheres_in' some 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_36110 pipecolate 'pipecolate' SubClassOf 'chemical entity' 'pipecolate' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/UBERON_2000072 somite 1 'somite 1' SubClassOf http://purl.obolibrary.org/obo/UBERON_0002329 http://purl.obolibrary.org/obo/UBERON_2000073 somite 5 'somite 5' SubClassOf http://purl.obolibrary.org/obo/UBERON_0002329 http://www.orpha.net/ORDO/Orphanet_51577 Cobblestone lissencephaly 'Cobblestone lissencephaly' SubClassOf 'Lissencephaly' 'Cobblestone lissencephaly' SubClassOf 'Lissencephaly' http://purl.obolibrary.org/obo/CHEBI_2596 alliin 'alliin' SubClassOf 'amino acid' 'alliin' SubClassOf 'amino acid' http://www.orpha.net/ORDO/Orphanet_87503 Mal de Meleda 'Mal de Meleda' SubClassOf 'Autosomal recessive isolated diffuse palmoplantar keratoderma' 'Mal de Meleda' SubClassOf 'Autosomal recessive isolated diffuse palmoplantar keratoderma' http://purl.obolibrary.org/obo/UBERON_0006965 vascular cord 'vascular cord' SubClassOf 'part_of' some 'cardiovascular system' 'vascular cord' SubClassOf 'part_of' some 'embryo' http://purl.obolibrary.org/obo/UBERON_2001391 anterior lateral line ganglion 'anterior lateral line ganglion' SubClassOf 'zebrafish component' 'posterior lateral line ganglion' DisjointWith 'anterior lateral line ganglion' 'anterior lateral line ganglion' SubClassOf 'lateral line ganglion' http://purl.obolibrary.org/obo/CHEBI_37415 alpha-amanitin 'alpha-amanitin' SubClassOf 'has_role' some 'toxin' http://purl.obolibrary.org/obo/CHEBI_26764 steroid hormone 'steroid hormone' SubClassOf 'has_role' some 'hormone role' http://purl.obolibrary.org/obo/CHEBI_25434 bis(2-chloroethyl) sulfide 'bis(2-chloroethyl) sulfide' SubClassOf 'has_role' some 'alkylating agent role' http://purl.obolibrary.org/obo/CHEBI_25435 mutagen 'mutagen' SubClassOf 'inheres_in' some 'chemical entity' http://www.orpha.net/ORDO/Orphanet_140874 Joubert syndrome and related disorders 'Joubert syndrome and related disorders' SubClassOf 'Autosomal recessive congenital cerebellar ataxia' 'Joubert syndrome and related disorders' SubClassOf 'Autosomal recessive congenital cerebellar ataxia' http://www.orpha.net/ORDO/Orphanet_75508 Angioosteohypotrophic syndrome 'Angioosteohypotrophic syndrome' SubClassOf 'Congenital vascular bone syndrome' 'Angioosteohypotrophic syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016235 'Angioosteohypotrophic syndrome' SubClassOf 'Congenital vascular bone syndrome' http://purl.obolibrary.org/obo/UBERON_2000058 polster 'polster' SubClassOf 'embryonic structure' http://www.orpha.net/ORDO/Orphanet_306462 Congenital sucrase-isomaltase deficiency without starch intolerance 'Congenital sucrase-isomaltase deficiency without starch intolerance' SubClassOf 'Congenital sucrase-isomaltase deficiency' 'Congenital sucrase-isomaltase deficiency without starch intolerance' SubClassOf 'Congenital sucrase-isomaltase deficiency' 'Congenital sucrase-isomaltase deficiency without starch intolerance' DisjointWith 'Congenital sucrase-isomaltase deficiency with starch and lactose intolerance' http://purl.obolibrary.org/obo/UBERON_0003086 caudal artery 'caudal artery' SubClassOf 'artery' 'caudal artery' SubClassOf http://purl.obolibrary.org/obo/UBERON_0003513 'caudal artery' SubClassOf http://purl.obolibrary.org/obo/UBERON_0003524 'caudal artery' SubClassOf http://purl.obolibrary.org/obo/UBERON_0004573 http://purl.obolibrary.org/obo/UBERON_0003083 trunk neural crest 'trunk neural crest' SubClassOf 'develops_from' some 'presumptive neural plate' 'trunk neural crest' SubClassOf 'part_of' some 'embryonic structure' 'trunk neural crest' SubClassOf 'develops_from' some 'ectoderm' http://purl.obolibrary.org/obo/BTO_0000797 colonic cancer cell line 'colonic cancer cell line' EquivalentTo 'cultured cell' and ('bearer_of' some 'colonic neoplasm') http://www.orpha.net/ORDO/Orphanet_140917 Stapes ankylosis with broad thumbs and toes 'Stapes ankylosis with broad thumbs and toes' SubClassOf 'Syndromic genetic deafness' 'Stapes ankylosis with broad thumbs and toes' SubClassOf 'Syndromic genetic deafness' http://www.orpha.net/ORDO/Orphanet_306474 Congenital sucrase-isomaltase deficiency with starch and lactose intolerance 'Congenital sucrase-isomaltase deficiency with starch and lactose intolerance' SubClassOf 'Congenital sucrase-isomaltase deficiency' 'Congenital sucrase-isomaltase deficiency with starch and lactose intolerance' SubClassOf 'Congenital sucrase-isomaltase deficiency' 'Congenital sucrase-isomaltase deficiency without starch intolerance' DisjointWith 'Congenital sucrase-isomaltase deficiency with starch and lactose intolerance' http://www.orpha.net/ORDO/Orphanet_294049 Reunion Island's Larsen syndrome 'Reunion Island's Larsen syndrome' SubClassOf 'Primary bone dysplasia with multiple joint dislocations' 'Reunion Island's Larsen syndrome' SubClassOf 'Disorder of multiple glycosylation' 'Reunion Island's Larsen syndrome' SubClassOf 'Primary bone dysplasia with multiple joint dislocations' 'Reunion Island's Larsen syndrome' SubClassOf 'Congenital disorder of glycosylation-related bone disorder' http://www.orpha.net/ORDO/Orphanet_140922 Autosomal recessive limb-girdle muscular dystrophy type 2J 'Autosomal recessive limb-girdle muscular dystrophy type 2J' SubClassOf 'Qualitative or quantitative defects of titin' 'Autosomal recessive limb-girdle muscular dystrophy type 2J' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' 'Autosomal recessive limb-girdle muscular dystrophy type 2J' SubClassOf 'Qualitative or quantitative defects of titin' 'Autosomal recessive limb-girdle muscular dystrophy type 2J' SubClassOf 'Autosomal recessive limb-girdle muscular dystrophy' http://purl.obolibrary.org/obo/CHEBI_2555 aldicarb 'aldicarb' SubClassOf 'has_role' some 'insecticide' http://purl.obolibrary.org/obo/UBERON_0003099 cranial neural crest 'cranial neural crest' SubClassOf 'part_of' some 'embryonic structure' 'cranial neural crest' SubClassOf 'develops_from' some 'presumptive neural plate' 'cranial neural crest' SubClassOf 'develops_from' some 'ectoderm' http://www.orpha.net/ORDO/Orphanet_140927 Benign familial neonatal-infantile seizures 'Benign familial neonatal-infantile seizures' SubClassOf 'Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes' 'Benign familial neonatal-infantile seizures' SubClassOf 'Benign partial infantile seizures' 'Benign familial neonatal-infantile seizures' SubClassOf 'Benign familial infantile epilepsy' http://www.orpha.net/ORDO/Orphanet_140936 Lelis syndrome 'Lelis syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Lelis syndrome' SubClassOf 'Ectodermal dysplasia syndrome' http://www.orpha.net/ORDO/Orphanet_75563 X-linked sideroblastic anemia 'X-linked sideroblastic anemia' SubClassOf 'Constitutional sideroblastic anemia' 'X-linked sideroblastic anemia' SubClassOf 'Disorder of porphyrin and haem metabolism' 'X-linked sideroblastic anemia' SubClassOf 'Constitutional sideroblastic anemia' 'X-linked sideroblastic anemia' SubClassOf 'Disorder of porphyrin and haem metabolism' 'X-linked sideroblastic anemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000425 http://www.orpha.net/ORDO/Orphanet_140933 Linear atrophoderma of Moulin 'Linear atrophoderma of Moulin' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018798 'Linear atrophoderma of Moulin' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021154 http://www.orpha.net/ORDO/Orphanet_98249 Ehlers-Danlos syndrome 'Ehlers-Danlos syndrome' SubClassOf 'Malformation syndrome with connective tissue involvement' 'Ehlers-Danlos syndrome' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Ehlers-Danlos syndrome' SubClassOf 'Genetic dermis elastic tissue disorder' 'Ehlers-Danlos syndrome' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'Ehlers-Danlos syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'Ehlers-Danlos syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024255 'Ehlers-Danlos syndrome' SubClassOf 'Malformation syndrome with connective tissue involvement' 'Ehlers-Danlos syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015938 'Ehlers-Danlos syndrome' SubClassOf 'Genetic dermis elastic tissue disorder' 'Ehlers-Danlos syndrome' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Ehlers-Danlos syndrome' SubClassOf 'Rare genetic systemic or rheumatologic disease' http://www.orpha.net/ORDO/Orphanet_307773 Autosomal dominant diffuse mutilating palmoplantar keratoderma 'Autosomal dominant diffuse mutilating palmoplantar keratoderma' SubClassOf 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' 'Autosomal dominant diffuse mutilating palmoplantar keratoderma' SubClassOf 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' http://purl.obolibrary.org/obo/CHEBI_3892 adrenocorticotropic hormone 'adrenocorticotropic hormone' SubClassOf 'has_role' some 'hormone role' http://www.orpha.net/ORDO/Orphanet_306446 Congenital sucrase-isomaltase deficiency with minimal starch tolerance 'Congenital sucrase-isomaltase deficiency with minimal starch tolerance' SubClassOf 'Congenital sucrase-isomaltase deficiency' 'Congenital sucrase-isomaltase deficiency with minimal starch tolerance' SubClassOf 'Congenital sucrase-isomaltase deficiency' http://www.orpha.net/ORDO/Orphanet_294060 Multiple pterygium syndrome 'Multiple pterygium syndrome' SubClassOf 'Arthrogryposis syndrome' 'Multiple pterygium syndrome' SubClassOf 'Arthrogryposis syndrome' http://www.orpha.net/ORDO/Orphanet_98258 Infantile epilepsy syndrome 'Infantile epilepsy syndrome' SubClassOf 'Epilepsy syndrome' 'Infantile epilepsy syndrome' SubClassOf 'Epilepsy syndrome' http://www.orpha.net/ORDO/Orphanet_140944 CLOVE syndrome 'CLOVE syndrome' SubClassOf 'Genetic skin tumor' 'CLOVE syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000629 'CLOVE syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0016235 'CLOVE syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 'CLOVE syndrome' SubClassOf 'Genetic skin tumor' 'CLOVE syndrome' SubClassOf 'melanocytic nevus' 'CLOVE syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019296 'CLOVE syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018729 http://www.orpha.net/ORDO/Orphanet_98257 Neonatal epilepsy syndrome 'Neonatal epilepsy syndrome' SubClassOf 'Epilepsy syndrome' 'Neonatal epilepsy syndrome' SubClassOf 'Epilepsy syndrome' http://www.orpha.net/ORDO/Orphanet_140941 Short stature due to primary acid-labile subunit deficiency 'Short stature due to primary acid-labile subunit deficiency' SubClassOf 'Growth hormone insensitivity syndrome' 'Short stature due to primary acid-labile subunit deficiency' SubClassOf 'Growth hormone insensitivity syndrome' http://www.orpha.net/ORDO/Orphanet_98259 Childhood-onset epilepsy syndrome 'Childhood-onset epilepsy syndrome' SubClassOf 'Epilepsy syndrome' 'Childhood-onset epilepsy syndrome' SubClassOf 'Epilepsy syndrome' http://www.orpha.net/ORDO/Orphanet_101351 Familial isolated congenital asplenia 'Familial isolated congenital asplenia' SubClassOf 'Non-syndromic visceral malformation' 'Familial isolated congenital asplenia' SubClassOf 'Non-syndromic visceral malformation' 'Familial isolated congenital asplenia' SubClassOf 'Other immunodeficiency syndromes due to defects in innate immunity' http://purl.obolibrary.org/obo/UBERON_0003040 central gray substance of midbrain 'central gray substance of midbrain' SubClassOf 'brain' 'central gray substance of midbrain' SubClassOf 'brain' http://www.orpha.net/ORDO/Orphanet_100032 Hypocalcified amelogenesis imperfecta 'Hypocalcified amelogenesis imperfecta' SubClassOf 'Amelogenesis imperfecta' 'Hypocalcified amelogenesis imperfecta' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003847 'Hypocalcified amelogenesis imperfecta' SubClassOf 'Amelogenesis imperfecta' http://www.orpha.net/ORDO/Orphanet_100031 Hypoplastic amelogenesis imperfecta 'Hypoplastic amelogenesis imperfecta' SubClassOf 'Amelogenesis imperfecta' 'Hypoplastic amelogenesis imperfecta' SubClassOf 'Amelogenesis imperfecta' http://www.orpha.net/ORDO/Orphanet_100034 Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism 'Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism' SubClassOf 'Amelogenesis imperfecta' 'Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003847 'Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism' SubClassOf 'Amelogenesis imperfecta' http://purl.obolibrary.org/obo/CHEBI_2504 aflatoxin B1 'aflatoxin B1' SubClassOf 'has_role' some 'toxin' http://www.orpha.net/ORDO/Orphanet_100033 Hypomaturation amelogenesis imperfecta 'Hypomaturation amelogenesis imperfecta' SubClassOf 'Amelogenesis imperfecta' 'Hypomaturation amelogenesis imperfecta' SubClassOf 'Amelogenesis imperfecta' http://purl.obolibrary.org/obo/UBERON_0003053 ventricular zone 'ventricular zone' SubClassOf 'part_of' some 'brain' http://purl.obolibrary.org/obo/UBERON_0003050 olfactory placode 'olfactory placode' SubClassOf 'embryonic structure' 'olfactory placode' SubClassOf 'part_of' some 'embryo' 'olfactory placode' SubClassOf 'develops_from' some 'ectoderm' 'olfactory placode' SubClassOf 'neurogenic placode' http://purl.obolibrary.org/obo/UBERON_0003059 presomitic mesoderm 'presomitic mesoderm' SubClassOf 'animal component' 'presomitic mesoderm' SubClassOf 'part_of' some 'paraxial mesoderm' 'presomitic mesoderm' SubClassOf http://purl.obolibrary.org/obo/UBERON_0006598 'presomitic mesoderm' SubClassOf 'develops_from' some 'presumptive segmental plate' http://purl.obolibrary.org/obo/BTO_0000740 myeloid leukemia cell line 'myeloid leukemia cell line' SubClassOf 'cultured cell' and ('bearer_of' some 'leukemia') http://purl.obolibrary.org/obo/UBERON_0003058 hypochord 'hypochord' SubClassOf 'part_of' some 'endoderm' http://www.orpha.net/ORDO/Orphanet_307766 Curly hair-acral keratoderma-caries syndrome 'Curly hair-acral keratoderma-caries syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Curly hair-acral keratoderma-caries syndrome' SubClassOf 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' 'Curly hair-acral keratoderma-caries syndrome' SubClassOf 'Ectodermal dysplasia syndrome' 'Curly hair-acral keratoderma-caries syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Curly hair-acral keratoderma-caries syndrome' SubClassOf 'Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature' http://www.orpha.net/ORDO/Orphanet_306436 Congenital sucrase-isomaltase deficiency with starch intolerance 'Congenital sucrase-isomaltase deficiency with starch intolerance' SubClassOf 'Congenital sucrase-isomaltase deficiency' 'Congenital sucrase-isomaltase deficiency with starch intolerance' SubClassOf 'Congenital sucrase-isomaltase deficiency' http://www.orpha.net/ORDO/Orphanet_100006 Hereditary cerebral hemorrhage with amyloidosis, Dutch type 'Hereditary cerebral hemorrhage with amyloidosis, Dutch type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0011583 http://www.orpha.net/ORDO/Orphanet_100008 Hereditary cerebral hemorrhage with amyloidosis, Icelandic type 'Hereditary cerebral hemorrhage with amyloidosis, Icelandic type' SubClassOf 'cerebral amyloid angiopathy' http://www.orpha.net/ORDO/Orphanet_101330 Porphyria cutanea tarda 'Porphyria cutanea tarda' SubClassOf 'Chronic hepatic porphyria' 'Porphyria cutanea tarda' SubClassOf 'Chronic hepatic porphyria' 'Porphyria cutanea tarda' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002406 http://www.orpha.net/ORDO/Orphanet_294016 Microcephaly-capillary malformation syndrome 'Microcephaly-capillary malformation syndrome' SubClassOf 'Syndrome with microcephaly as major feature' 'Microcephaly-capillary malformation syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0043218 'Microcephaly-capillary malformation syndrome' SubClassOf 'Syndrome with microcephaly as major feature' 'Microcephaly-capillary malformation syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018719 http://purl.obolibrary.org/obo/UBERON_0003065 ciliary marginal zone 'ciliary marginal zone' SubClassOf 'part_of' some 'retina' http://www.orpha.net/ORDO/Orphanet_98203 Combined dystonia 'Combined dystonia' SubClassOf 'Rare genetic dystonia' 'Combined dystonia' SubClassOf 'Rare genetic dystonia' http://purl.obolibrary.org/obo/UBERON_0003061 blood island 'blood island' SubClassOf http://purl.obolibrary.org/obo/UBERON_0006598 'blood island' SubClassOf 'part_of' some 'embryo' 'blood island' SubClassOf 'develops_from' some 'mesoderm' http://purl.obolibrary.org/obo/UBERON_0003069 otic placode 'otic placode' SubClassOf 'neurogenic placode' 'otic placode' SubClassOf http://purl.obolibrary.org/obo/UBERON_0003067 'otic placode' SubClassOf 'part_of' some 'sensory system' http://purl.obolibrary.org/obo/UBERON_0003068 axial mesoderm 'axial mesoderm' SubClassOf 'part_of' some 'mesoderm' 'axial mesoderm' SubClassOf 'part_of' some 'embryo' 'axial mesoderm' SubClassOf 'embryonic structure' 'axial mesoderm' SubClassOf 'develops_from' some 'mesoderm' http://www.orpha.net/ORDO/Orphanet_100014 Lissencephaly with cerebellar hypoplasia type D 'Lissencephaly with cerebellar hypoplasia type D' SubClassOf 'Lissencephaly with cerebellar hypoplasia' 'Lissencephaly with cerebellar hypoplasia type D' SubClassOf 'Lissencephaly with cerebellar hypoplasia' http://www.orpha.net/ORDO/Orphanet_100013 Lissencephaly with cerebellar hypoplasia type C 'Lissencephaly with cerebellar hypoplasia type C' SubClassOf 'Lissencephaly with cerebellar hypoplasia' 'Lissencephaly with cerebellar hypoplasia type C' SubClassOf 'Lissencephaly with cerebellar hypoplasia' http://www.orpha.net/ORDO/Orphanet_100016 Lissencephaly with cerebellar hypoplasia type F 'Lissencephaly with cerebellar hypoplasia type F' SubClassOf 'Lissencephaly with cerebellar hypoplasia' 'Lissencephaly with cerebellar hypoplasia type F' SubClassOf 'Lissencephaly with cerebellar hypoplasia' http://www.orpha.net/ORDO/Orphanet_100015 Lissencephaly with cerebellar hypoplasia type E 'Lissencephaly with cerebellar hypoplasia type E' SubClassOf 'Lissencephaly with cerebellar hypoplasia' 'Lissencephaly with cerebellar hypoplasia type E' SubClassOf 'Lissencephaly with cerebellar hypoplasia' http://www.orpha.net/ORDO/Orphanet_294023 Neonatal inflammatory skin and bowel disease 'Neonatal inflammatory skin and bowel disease' SubClassOf 'Other genetic epidermal disease' 'Neonatal inflammatory skin and bowel disease' SubClassOf 'inflammatory bowel disease' 'Neonatal inflammatory skin and bowel disease' SubClassOf 'Other genetic epidermal disease' 'Neonatal inflammatory skin and bowel disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019274 'Neonatal inflammatory skin and bowel disease' SubClassOf 'Autoinflammatory syndrome with immune deficiency' http://www.orpha.net/ORDO/Orphanet_100012 Lissencephaly with cerebellar hypoplasia type B 'Lissencephaly with cerebellar hypoplasia type B' SubClassOf 'Lissencephaly with cerebellar hypoplasia' 'Lissencephaly with cerebellar hypoplasia type B' SubClassOf 'Lissencephaly with cerebellar hypoplasia' http://www.orpha.net/ORDO/Orphanet_100011 Lissencephaly with cerebellar hypoplasia type A 'Lissencephaly with cerebellar hypoplasia type A' SubClassOf 'Lissencephaly with cerebellar hypoplasia' 'Lissencephaly with cerebellar hypoplasia type A' SubClassOf 'Lissencephaly with cerebellar hypoplasia' http://www.orpha.net/ORDO/Orphanet_294026 2q31.1 microduplication syndrome '2q31.1 microduplication syndrome' SubClassOf 'Partial duplication of the long arm of chromosome 2' '2q31.1 microduplication syndrome' SubClassOf 'Partial duplication of the long arm of chromosome 2' http://purl.obolibrary.org/obo/UBERON_0003073 lens placode 'lens placode' SubClassOf 'primordium' 'lens placode' SubClassOf 'part_of' some 'ectoderm' 'lens placode' SubClassOf http://purl.obolibrary.org/obo/UBERON_0002546 'lens placode' SubClassOf 'part_of' some 'head' 'lens placode' SubClassOf http://purl.obolibrary.org/obo/UBERON_0006598 'lens placode' SubClassOf 'develops_from' some 'ectoderm' 'lens placode' SubClassOf 'develops_from' some 'presumptive neural plate' 'lens placode' SubClassOf 'develops_from' some 'primordium' 'lens placode' SubClassOf http://purl.obolibrary.org/obo/UBERON_0011814 http://purl.obolibrary.org/obo/UBERON_0003070 trigeminal placode 'trigeminal placode' SubClassOf 'neurogenic placode' 'trigeminal placode' SubClassOf http://purl.obolibrary.org/obo/UBERON_0003067 http://purl.obolibrary.org/obo/UBERON_0003071 optic primordium 'optic primordium' SubClassOf 'primordium' 'optic primordium' SubClassOf http://purl.obolibrary.org/obo/UBERON_0010371 'optic primordium' SubClassOf http://purl.obolibrary.org/obo/UBERON_0006598 'optic primordium' SubClassOf http://purl.obolibrary.org/obo/UBERON_0000490 http://purl.obolibrary.org/obo/UBERON_0003078 epibranchial placode 'epibranchial placode' SubClassOf 'embryonic structure' 'epibranchial placode' SubClassOf 'neurogenic placode' 'epibranchial placode' SubClassOf 'part_of' some 'peripheral nervous system' 'epibranchial placode' SubClassOf 'part_of' some 'embryo' 'epibranchial placode' SubClassOf 'neurogenic placode' http://purl.obolibrary.org/obo/UBERON_0003077 paraxial mesoderm 'paraxial mesoderm' SubClassOf 'part_of' some 'mesoderm' 'paraxial mesoderm' SubClassOf 'develops_from' some 'presumptive paraxial mesoderm' http://www.orpha.net/ORDO/Orphanet_140908 Brachydactyly type B2 'Brachydactyly type B2' SubClassOf 'Syndrome with brachydactyly' 'Brachydactyly type B2' SubClassOf 'Syndrome with brachydactyly' http://www.orpha.net/ORDO/Orphanet_140905 Hyperlipidemia due to hepatic triglyceride lipase deficiency 'Hyperlipidemia due to hepatic triglyceride lipase deficiency' SubClassOf 'Hyperalphalipoproteinemia' 'Hyperlipidemia due to hepatic triglyceride lipase deficiency' SubClassOf 'Hyperalphalipoproteinemia' http://purl.obolibrary.org/obo/UBERON_0003079 floor plate 'floor plate' SubClassOf 'develops_from' some 'skeletal system' 'floor plate' SubClassOf 'develops_from' some 'chordamesoderm' 'floor plate' SubClassOf 'develops_from' some 'presumptive floor plate' 'floor plate' SubClassOf 'part_of' some 'nervous system' 'floor plate' SubClassOf 'part_of' some 'embryo' http://www.ebi.ac.uk/efo/EFO_0008814 MIPSTR 'MIPSTR' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008815 MiR‐CLIP 'MiR‐CLIP' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008816 MIRA 'MIRA' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008817 MitoRCA-seq 'MitoRCA-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008810 middRAD 'middRAD' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008811 MiGS 'MiGS' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008812 MINCE-seq 'MINCE-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008813 Mint-ChIP 'Mint-ChIP' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008818 miTRAP 'miTRAP' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008819 mNET-seq 'mNET-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.orpha.net/ORDO/Orphanet_221054 Acrocephalopolydactyly 'Acrocephalopolydactyly' SubClassOf 'Syndromic craniosynostosis' 'Acrocephalopolydactyly' SubClassOf 'Syndromic craniosynostosis' http://www.orpha.net/ORDO/Orphanet_247685 Odontohypophosphatasia 'Odontohypophosphatasia' SubClassOf 'Hypophosphatasia' 'Odontohypophosphatasia' SubClassOf 'Adult hypophosphatasia' http://www.orpha.net/ORDO/Orphanet_261992 Partial monosomy of the short arm of chromosome 20 'Partial monosomy of the short arm of chromosome 20' SubClassOf 'Partial deletion of chromosome 20' 'Partial monosomy of the short arm of chromosome 20' SubClassOf 'Partial deletion of chromosome 20' http://www.orpha.net/ORDO/Orphanet_261974 Partial deletion of the short arm of chromosome 18 'Partial deletion of the short arm of chromosome 18' SubClassOf 'Partial deletion of chromosome 18' 'Partial deletion of the short arm of chromosome 18' SubClassOf 'Partial deletion of chromosome 18' http://www.ebi.ac.uk/efo/EFO_0008803 MeRIP-Seq 'MeRIP-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.orpha.net/ORDO/Orphanet_329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy 'Congenital muscular dystrophy with intellectual disability and severe epilepsy' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' 'Congenital muscular dystrophy with intellectual disability and severe epilepsy' SubClassOf 'Disorder of multiple glycosylation' 'Congenital muscular dystrophy with intellectual disability and severe epilepsy' SubClassOf 'Congenital muscular dystrophy due to dystroglycanopathy' 'Congenital muscular dystrophy with intellectual disability and severe epilepsy' SubClassOf 'Congenital disorder of glycosylation with hepatic involvement' 'Congenital muscular dystrophy with intellectual disability and severe epilepsy' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'Congenital muscular dystrophy with intellectual disability and severe epilepsy' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' 'Congenital muscular dystrophy with intellectual disability and severe epilepsy' SubClassOf 'congenital disorder of glycosylation type I' 'Congenital muscular dystrophy with intellectual disability and severe epilepsy' SubClassOf 'Disorder of multiple glycosylation' 'Congenital muscular dystrophy with intellectual disability and severe epilepsy' SubClassOf 'Congenital muscular dystrophy due to dystroglycanopathy' 'Congenital muscular dystrophy with intellectual disability and severe epilepsy' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'Congenital muscular dystrophy with intellectual disability and severe epilepsy' SubClassOf 'Congenital disorder of glycosylation with hepatic involvement' http://www.ebi.ac.uk/efo/EFO_0008804 Methyl-seq 'Methyl-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008805 MethylCap-Seq 'MethylCap-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008806 miCLIP-m5A 'miCLIP-m5A' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008800 MDA 'MDA' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008801 MDS 'MDS' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008802 ME-Scan-SVA 'ME-Scan-SVA' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008807 miCLIP-m6A 'miCLIP-m6A' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008808 Micro-C XL 'Micro-C XL' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008809 MIDAS 'MIDAS' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.orpha.net/ORDO/Orphanet_221046 Poikiloderma with neutropenia 'Poikiloderma with neutropenia' SubClassOf 'Constitutional neutropenia with extra-haematopoietic manifestations' 'Poikiloderma with neutropenia' SubClassOf 'Hereditary poikiloderma' 'Poikiloderma with neutropenia' SubClassOf 'disease has feature' some http://purl.obolibrary.org/obo/MONDO_0001475 'Poikiloderma with neutropenia' SubClassOf 'Hereditary poikiloderma' 'Poikiloderma with neutropenia' SubClassOf 'Constitutional neutropenia with extra-haematopoietic manifestations' http://www.orpha.net/ORDO/Orphanet_247698 Multiple endocrine neoplasia type 2A 'Multiple endocrine neoplasia type 2A' SubClassOf 'Multiple endocrine neoplasia type 2' 'Multiple endocrine neoplasia type 2A' SubClassOf 'Multiple endocrine neoplasia type 2B' http://www.orpha.net/ORDO/Orphanet_261983 Partial deletion of the short arm of chromosome 19 'Partial deletion of the short arm of chromosome 19' SubClassOf 'Partial deletion of chromosome 19' 'Partial deletion of the short arm of chromosome 19' SubClassOf 'Partial deletion of chromosome 19' http://www.orpha.net/ORDO/Orphanet_221043 Hereditary sclerosing poikiloderma with tendon and pulmonary involvement 'Hereditary sclerosing poikiloderma with tendon and pulmonary involvement' SubClassOf 'Hereditary poikiloderma' 'Hereditary sclerosing poikiloderma with tendon and pulmonary involvement' SubClassOf http://purl.obolibrary.org/obo/MONDO_0017027 'Hereditary sclerosing poikiloderma with tendon and pulmonary involvement' SubClassOf 'Hereditary poikiloderma' http://www.orpha.net/ORDO/Orphanet_247691 Retinal vasculopathy and cerebral leukodystrophy 'Retinal vasculopathy and cerebral leukodystrophy' SubClassOf 'Genetic central nervous system and retinal vascular disease' 'Retinal vasculopathy and cerebral leukodystrophy' SubClassOf 'Retinal dystrophy' 'Retinal vasculopathy and cerebral leukodystrophy' SubClassOf 'disease has feature' some 'Retinal dystrophy' 'Retinal vasculopathy and cerebral leukodystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100014 'Retinal vasculopathy and cerebral leukodystrophy' SubClassOf 'Basement membrane disease' 'Retinal vasculopathy and cerebral leukodystrophy' SubClassOf 'cerebral small vessel disease' 'Retinal vasculopathy and cerebral leukodystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000603 'Retinal vasculopathy and cerebral leukodystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018782 'Retinal vasculopathy and cerebral leukodystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015939 'Retinal vasculopathy and cerebral leukodystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018751 'Retinal vasculopathy and cerebral leukodystrophy' SubClassOf 'Retinal dystrophy' 'Retinal vasculopathy and cerebral leukodystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002311 http://www.ebi.ac.uk/efo/EFO_0008830 NOME-Seq 'NOME-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008831 NS-seq 'NS-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0007500 Strongylida infectious disease 'Strongylida infectious disease' SubClassOf 'parasitic infection' 'Strongylida infectious disease' SubClassOf 'Rhabditida infectious disease' 'Strongylida infectious disease' SubClassOf 'parasitic infection' http://www.orpha.net/ORDO/Orphanet_261965 Partial monosomy of the short arm of chromosome 17 'Partial monosomy of the short arm of chromosome 17' SubClassOf 'Partial deletion of chromosome 17' 'Partial monosomy of the short arm of chromosome 17' SubClassOf 'Partial deletion of chromosome 17' http://www.ebi.ac.uk/efo/EFO_0007504 syphilis 'syphilis' SubClassOf 'bacterial disease' 'syphilis' SubClassOf 'Treponema infectious disease' 'syphilis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000314 'syphilis' SubClassOf 'bacterial disease' http://www.ebi.ac.uk/efo/EFO_0008836 Nucleo-Seq 'Nucleo-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0007503 suppurative otitis media 'suppurative otitis media' SubClassOf 'Otitis media' 'suppurative otitis media' SubClassOf 'Otitis media' http://www.ebi.ac.uk/efo/EFO_0008837 OK-Seq 'OK-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0007502 subacute sclerosing panencephalitis 'subacute sclerosing panencephalitis' SubClassOf 'viral disease' 'subacute sclerosing panencephalitis' SubClassOf 'central nervous system disease' 'subacute sclerosing panencephalitis' SubClassOf 'has_disease_location' some ('brain' or ('part_of' some 'brain')) 'subacute sclerosing panencephalitis' SubClassOf 'viral disease' 'subacute sclerosing panencephalitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020069 'subacute sclerosing panencephalitis' SubClassOf 'measles' 'subacute sclerosing panencephalitis' SubClassOf 'viral encephalitis' 'subacute sclerosing panencephalitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015659 http://www.ebi.ac.uk/efo/EFO_0008838 ORGANIC 'ORGANIC' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0007501 strongyloidiasis 'strongyloidiasis' SubClassOf 'parasitic infection' 'strongyloidiasis' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'strongyloidiasis' SubClassOf 'Strongylida infectious disease' 'strongyloidiasis' SubClassOf 'parasitic infection' http://www.ebi.ac.uk/efo/EFO_0008839 OS-Seq 'OS-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0007508 tick infestation 'tick infestation' SubClassOf 'parasitic infection' 'tick infestation' SubClassOf 'parasitic infection' 'tick infestation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002875 http://www.ebi.ac.uk/efo/EFO_0008832 NSCR 'NSCR' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0007507 thoracic outlet syndrome 'thoracic outlet syndrome' SubClassOf 'vascular disease' 'thoracic outlet syndrome' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'thoracic outlet syndrome' SubClassOf 'vascular disease' 'thoracic outlet syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 http://www.ebi.ac.uk/efo/EFO_0008833 nuc-ChIP-seq 'nuc-ChIP-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0007506 theileriasis 'theileriasis' SubClassOf 'parasitic infection' 'theileriasis' SubClassOf 'parasitic infection' 'theileriasis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002428 http://www.ebi.ac.uk/efo/EFO_0008834 nucleosome sequencing 'nucleosome sequencing' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0007505 tabes dorsalis 'tabes dorsalis' SubClassOf 'nervous system disease' 'tabes dorsalis' SubClassOf 'nervous system disease' 'tabes dorsalis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020010 'tabes dorsalis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004944 http://www.ebi.ac.uk/efo/EFO_0008835 nuc-seq 'nuc-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0007509 tick paralysis 'tick paralysis' SubClassOf 'nervous system disease' 'tick paralysis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020010 'tick paralysis' SubClassOf 'nervous system disease' 'tick paralysis' SubClassOf 'tick infestation' http://www.orpha.net/ORDO/Orphanet_247667 Childhood-onset hypophosphatasia 'Childhood-onset hypophosphatasia' SubClassOf 'Hypophosphatasia' 'Childhood-onset hypophosphatasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020014 'Childhood-onset hypophosphatasia' SubClassOf 'Hypophosphatasia' http://www.ebi.ac.uk/efo/EFO_0008820 Mosaic-Seq 'Mosaic-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.orpha.net/ORDO/Orphanet_261956 Partial deletion of the short arm of chromosome 16 'Partial deletion of the short arm of chromosome 16' SubClassOf 'Partial deletion of chromosome 16' 'Partial deletion of the short arm of chromosome 16' SubClassOf 'Partial deletion of chromosome 16' http://www.ebi.ac.uk/efo/EFO_0008825 Nanogrid RNA-Seq 'Nanogrid RNA-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008826 NET-Seq 'NET-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008827 NG Capture-C 'NG Capture-C' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008828 Nm-seq 'Nm-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008821 MPE-seq 'MPE-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008822 MPRA 'MPRA' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008823 Mseek 'Mseek' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008824 NanoCAGE 'NanoCAGE' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008829 NOIR 'NOIR' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.orpha.net/ORDO/Orphanet_247676 Adult hypophosphatasia 'Adult hypophosphatasia' SubClassOf 'Hypophosphatasia' 'Adult hypophosphatasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020014 'Adult hypophosphatasia' SubClassOf 'Hypophosphatasia' http://www.orpha.net/ORDO/Orphanet_221061 Hereditary cerebral cavernous malformation 'Hereditary cerebral cavernous malformation' SubClassOf 'Genetic neurovascular malformation' 'Hereditary cerebral cavernous malformation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000820 'Hereditary cerebral cavernous malformation' SubClassOf 'Genetic neurovascular malformation' 'Hereditary cerebral cavernous malformation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018730 'Hereditary cerebral cavernous malformation' SubClassOf 'Genetic central nervous system and retinal vascular disease' 'Hereditary cerebral cavernous malformation' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0000820 and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021152) http://www.ebi.ac.uk/efo/EFO_0008850 PAS-Seq 'PAS-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008851 PAT-Seq 'PAT-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008852 PAT–ChIP 'PAT–ChIP' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008853 Patch-seq 'Patch-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0007522 trichostrongyloidiasis 'trichostrongyloidiasis' SubClassOf 'parasitic infection' 'trichostrongyloidiasis' SubClassOf 'Strongylida infectious disease' 'trichostrongyloidiasis' SubClassOf 'parasitic infection' http://www.ebi.ac.uk/efo/EFO_0007521 Trichomonas vaginitis 'Trichomonas vaginitis' SubClassOf 'trichomoniasis' 'Trichomonas vaginitis' SubClassOf 'urinary system disease' 'Trichomonas vaginitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021681 'Trichomonas vaginitis' SubClassOf 'trichomoniasis' 'Trichomonas vaginitis' SubClassOf 'has_disease_location' some ('vagina' or ('part_of' some 'vagina')) http://www.ebi.ac.uk/efo/EFO_0007520 trichinosis 'trichinosis' SubClassOf 'parasitic infection' 'trichinosis' SubClassOf 'Enoplea infectious disease' 'trichinosis' SubClassOf 'parasitic infection' http://purl.obolibrary.org/obo/GO_0033646 host intracellular part 'host intracellular part' SubClassOf 'part_of' some 'intracellular region of host' http://www.ebi.ac.uk/efo/EFO_0007526 trombiculiasis 'trombiculiasis' SubClassOf 'parasitic infection' 'trombiculiasis' SubClassOf 'parasitic infection' 'trombiculiasis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004389 http://www.ebi.ac.uk/efo/EFO_0008858 PE RAD-Seq 'PE RAD-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0007525 tricuspid valve stenosis 'tricuspid valve stenosis' SubClassOf 'tricuspid valve disease' 'tricuspid valve stenosis' SubClassOf 'tricuspid valve disease' 'tricuspid valve stenosis' SubClassOf 'aortic disease' 'tricuspid valve stenosis' SubClassOf 'has_disease_location' some ('aortic valve' or ('part_of' some 'aortic valve')) http://www.ebi.ac.uk/efo/EFO_0008859 PEAT 'PEAT' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0007524 trichuriasis 'trichuriasis' SubClassOf 'parasitic infection' 'trichuriasis' SubClassOf 'disease has feature' some http://purl.obolibrary.org/obo/MONDO_0001357 'trichuriasis' SubClassOf 'has_disease_location' some ('intestine' or ('part_of' some 'intestine')) 'trichuriasis' SubClassOf 'disease has feature' some 'dysentery' 'trichuriasis' SubClassOf 'parasitic infection' 'trichuriasis' SubClassOf 'Enoplea infectious disease' http://www.ebi.ac.uk/efo/EFO_0007523 trichostrongylosis 'trichostrongylosis' SubClassOf 'parasitic infection' 'trichostrongylosis' SubClassOf 'trichostrongyloidiasis' 'trichostrongylosis' SubClassOf 'parasitic infection' http://www.ebi.ac.uk/efo/EFO_0008854 PB-seq 'PB-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0007529 tuberculous peritonitis 'tuberculous peritonitis' SubClassOf 'gastrointestinal tuberculosis' 'tuberculous peritonitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000369 'tuberculous peritonitis' SubClassOf 'gastrointestinal tuberculosis' http://www.ebi.ac.uk/efo/EFO_0008855 PBAT 'PBAT' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0007528 tuberculous empyema 'tuberculous empyema' SubClassOf 'empyema' 'tuberculous empyema' SubClassOf 'pleural empyema' 'tuberculous empyema' SubClassOf 'pleural tuberculosis' 'tuberculous empyema' SubClassOf 'empyema' http://www.ebi.ac.uk/efo/EFO_0008856 PD-Seq 'PD-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0007527 tropical spastic paraparesis 'tropical spastic paraparesis' SubClassOf 'viral disease' 'tropical spastic paraparesis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020010 'tropical spastic paraparesis' SubClassOf 'Human T-lymphotropic virus 1 infectious disease' 'tropical spastic paraparesis' SubClassOf 'has_disease_location' some ('spinal cord' or ('part_of' some 'spinal cord')) 'tropical spastic paraparesis' SubClassOf 'viral disease' http://www.ebi.ac.uk/efo/EFO_0008857 PDZ-Seq 'PDZ-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.orpha.net/ORDO/Orphanet_98267 Genetic non-syndromic obesity 'Genetic non-syndromic obesity' SubClassOf 'Genetic obesity' 'Genetic non-syndromic obesity' EquivalentTo 'Genetic obesity' and ('has modifier' some http://purl.obolibrary.org/obo/MONDO_0021128) 'Genetic non-syndromic obesity' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021128 'Genetic non-syndromic obesity' SubClassOf 'Genetic obesity' http://www.orpha.net/ORDO/Orphanet_98261 Progressive myoclonic epilepsy 'Progressive myoclonic epilepsy' SubClassOf 'Adolescent-onset epilepsy syndrome' 'Progressive myoclonic epilepsy' SubClassOf 'Childhood-onset epilepsy syndrome' 'Progressive myoclonic epilepsy' SubClassOf 'Adolescent-onset epilepsy syndrome' 'Progressive myoclonic epilepsy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100036 'Progressive myoclonic epilepsy' SubClassOf 'Childhood-onset epilepsy syndrome' http://www.orpha.net/ORDO/Orphanet_98260 Adolescent-onset epilepsy syndrome 'Adolescent-onset epilepsy syndrome' SubClassOf 'Epilepsy syndrome' 'Adolescent-onset epilepsy syndrome' SubClassOf 'Epilepsy syndrome' http://www.ebi.ac.uk/efo/EFO_0008840 oxBS-Seq 'oxBS-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008841 PAIR 'PAIR' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008842 Paired VH:VL Antibody Repertoire Analysis 'Paired VH:VL Antibody Repertoire Analysis' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0007511 tinea favosa 'tinea favosa' SubClassOf 'infectious disease' 'tinea favosa' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021201 'tinea favosa' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000254 http://www.ebi.ac.uk/efo/EFO_0007510 tinea 'tinea' SubClassOf 'infectious disease' 'tinea' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021201 'tinea' SubClassOf 'infectious disease' http://www.ebi.ac.uk/efo/EFO_0007515 toxascariasis 'toxascariasis' SubClassOf 'parasitic infection' 'toxascariasis' SubClassOf 'Ascaridida infectious disease' 'toxascariasis' SubClassOf 'parasitic infection' http://www.ebi.ac.uk/efo/EFO_0008847 PARIS 'PARIS' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0007514 Torovirus infectious disease 'Torovirus infectious disease' SubClassOf 'viral disease' 'Torovirus infectious disease' SubClassOf 'Coronaviridae infectious disease' 'Torovirus infectious disease' SubClassOf 'viral disease' http://www.ebi.ac.uk/efo/EFO_0008848 PARS 'PARS' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0007513 Togaviridae infectious disease 'Togaviridae infectious disease' SubClassOf 'viral disease' 'Togaviridae infectious disease' SubClassOf 'viral disease' http://www.ebi.ac.uk/efo/EFO_0008849 PARTE 'PARTE' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0007512 tinea pedis 'tinea pedis' SubClassOf 'skin disease' 'tinea pedis' SubClassOf 'skin disease' 'tinea pedis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044989 'tinea pedis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004678 http://www.ebi.ac.uk/efo/EFO_0007519 trench fever 'trench fever' SubClassOf 'bacterial disease' 'trench fever' SubClassOf 'bacterial disease' 'trench fever' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'trench fever' SubClassOf 'bartonellosis' http://www.ebi.ac.uk/efo/EFO_0008843 PAL-seq 'PAL-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0007518 tracheitis 'tracheitis' SubClassOf 'bacterial disease' 'tracheitis' SubClassOf 'respiratory system disease' 'tracheitis' SubClassOf 'has_disease_location' some ('trachea' or ('part_of' some 'trachea')) 'tracheitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024355 'tracheitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002567 'tracheitis' SubClassOf 'bacterial disease' 'tracheitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021925 http://www.ebi.ac.uk/efo/EFO_0008844 PAPERCLIP 'PAPERCLIP' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0007517 toxoplasmosis 'toxoplasmosis' SubClassOf 'parasitic infection' 'toxoplasmosis' SubClassOf 'coccidiosis' 'toxoplasmosis' SubClassOf 'parasitic infection' http://www.ebi.ac.uk/efo/EFO_0008845 PAR-CLIP 'PAR-CLIP' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0007516 toxocariasis 'toxocariasis' SubClassOf 'parasitic infection' 'toxocariasis' SubClassOf 'has modifier' some http://purl.obolibrary.org/obo/MONDO_0021136 'toxocariasis' SubClassOf 'parasitic infection' 'toxocariasis' SubClassOf 'disease has feature' some http://purl.obolibrary.org/obo/MONDO_0001941 'toxocariasis' SubClassOf 'Ascaridida infectious disease' http://www.ebi.ac.uk/efo/EFO_0008846 PARE-Seq 'PARE-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://purl.obolibrary.org/obo/GO_0033643 host cell part 'host cell part' EquivalentTo 'cellular component' and ('part_of' some 'host cell') 'host cell part' SubClassOf 'part_of' some 'host cell' http://www.ebi.ac.uk/efo/EFO_0008872 Pseudo-seq 'Pseudo-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008873 PSI-seq 'PSI-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008874 PTB-Seq 'PTB-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.orpha.net/ORDO/Orphanet_103912 Epithelio-exfoliative colitis - deafness 'Epithelio-exfoliative colitis - deafness' SubClassOf 'Congenital enteropathy involving intestinal mucosa development' 'Epithelio-exfoliative colitis - deafness' SubClassOf 'Congenital enteropathy involving intestinal mucosa development' http://www.ebi.ac.uk/efo/EFO_0008875 Pu-seq 'Pu-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0007544 Waterhouse-Friderichsen syndrome 'Waterhouse-Friderichsen syndrome' SubClassOf 'adrenal gland disease' 'Waterhouse-Friderichsen syndrome' SubClassOf 'adrenal gland disease' 'Waterhouse-Friderichsen syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019801 'Waterhouse-Friderichsen syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 http://www.orpha.net/ORDO/Orphanet_103910 Congenital enterocyte heparan sulfate deficiency 'Congenital enterocyte heparan sulfate deficiency' SubClassOf 'Congenital enteropathy involving intestinal mucosa development' 'Congenital enterocyte heparan sulfate deficiency' SubClassOf 'Congenital enteropathy involving intestinal mucosa development' http://www.ebi.ac.uk/efo/EFO_0007543 vulvovaginal candidiasis 'vulvovaginal candidiasis' SubClassOf 'infectious disease' 'vulvovaginal candidiasis' SubClassOf 'female reproductive system disease' 'vulvovaginal candidiasis' SubClassOf 'infectious disease' 'vulvovaginal candidiasis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023557 'vulvovaginal candidiasis' SubClassOf 'vulvovaginitis' 'vulvovaginal candidiasis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000879 http://www.ebi.ac.uk/efo/EFO_0007542 visna 'visna' SubClassOf 'central nervous system disease' 'visna' SubClassOf 'animal disease' 'visna' SubClassOf 'has_disease_location' some ('brain' or ('part_of' some 'brain')) 'visna' SubClassOf 'animal disease' 'visna' SubClassOf 'central nervous system cancer' 'visna' SubClassOf 'Lentivirus Infections' 'visna' SubClassOf 'brain neoplasm' http://www.ebi.ac.uk/efo/EFO_0008870 Profiler 'Profiler' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0007541 viral pneumonia 'viral pneumonia' SubClassOf 'pneumonia' 'viral pneumonia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024352 'viral pneumonia' SubClassOf 'pneumonia' http://www.ebi.ac.uk/efo/EFO_0008871 ProP-PD 'ProP-PD' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0007548 yaws 'yaws' SubClassOf 'bacterial disease' 'yaws' SubClassOf 'bacterial disease' 'yaws' SubClassOf 'syphilis' http://www.ebi.ac.uk/efo/EFO_0007547 Wissler's syndrome 'Wissler's syndrome' SubClassOf 'disease' 'Wissler's syndrome' SubClassOf 'rheumatic fever' 'Wissler's syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002254 http://www.ebi.ac.uk/efo/EFO_0007546 Western equine encephalitis 'Western equine encephalitis' SubClassOf 'encephalomyelitis' 'Western equine encephalitis' SubClassOf 'encephalomyelitis' 'Western equine encephalitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020601 'Western equine encephalitis' SubClassOf 'Alphavirus infectious disease' 'Western equine encephalitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015659 http://www.ebi.ac.uk/efo/EFO_0007545 West Nile encephalitis 'West Nile encephalitis' SubClassOf 'viral disease' 'West Nile encephalitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002282 'West Nile encephalitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020601 'West Nile encephalitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015659 'West Nile encephalitis' SubClassOf 'has_participant' some 'West Nile virus' 'West Nile encephalitis' SubClassOf 'viral disease' http://www.ebi.ac.uk/efo/EFO_0008876 Pvu-Seal-seq 'Pvu-Seal-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008877 Quartz-Seq 'Quartz-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008878 restriction-site associated DNA sequencing 'restriction-site associated DNA sequencing' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0007549 Zollinger-Ellison Syndrome 'Zollinger-Ellison Syndrome' SubClassOf 'neoplasm' 'Zollinger-Ellison Syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021058 'Zollinger-Ellison Syndrome' SubClassOf 'disease has feature' some 'pancreatic neuroendocrine tumor' 'Zollinger-Ellison Syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001770 'Zollinger-Ellison Syndrome' SubClassOf 'disease has feature' some http://purl.obolibrary.org/obo/MONDO_0015063 'Zollinger-Ellison Syndrome' SubClassOf 'disease has feature' some 'gastric ulcer' 'Zollinger-Ellison Syndrome' SubClassOf 'neoplasm' 'Zollinger-Ellison Syndrome' SubClassOf 'islet cell tumor' http://www.ebi.ac.uk/efo/EFO_0008879 RAD-tag 'RAD-tag' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.orpha.net/ORDO/Orphanet_103909 Diarrhea-vomiting due to trehalase deficiency 'Diarrhea-vomiting due to trehalase deficiency' SubClassOf 'Disorder of carbohydrate absorption and transport' 'Diarrhea-vomiting due to trehalase deficiency' SubClassOf 'Congenital intestinal disease due to an enzymatic defect' 'Diarrhea-vomiting due to trehalase deficiency' SubClassOf 'Metabolic disease with intestinal involvement' 'Diarrhea-vomiting due to trehalase deficiency' SubClassOf 'Disorder of carbohydrate absorption and transport' 'Diarrhea-vomiting due to trehalase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044976 'Diarrhea-vomiting due to trehalase deficiency' SubClassOf 'Congenital intestinal disease due to an enzymatic defect' http://www.orpha.net/ORDO/Orphanet_306486 Congenital sucrase-isomaltase deficiency without sucrose intolerance 'Congenital sucrase-isomaltase deficiency without sucrose intolerance' SubClassOf 'Congenital sucrase-isomaltase deficiency' 'Congenital sucrase-isomaltase deficiency without sucrose intolerance' SubClassOf 'Congenital sucrase-isomaltase deficiency' http://www.orpha.net/ORDO/Orphanet_103908 Congenital sodium diarrhea 'Congenital sodium diarrhea' SubClassOf 'Congenital intestinal transport defect' 'Congenital sodium diarrhea' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000824 'Congenital sodium diarrhea' SubClassOf 'Congenital intestinal transport defect' http://www.orpha.net/ORDO/Orphanet_103907 Chronic diarrhea due to glucoamylase deficiency 'Chronic diarrhea due to glucoamylase deficiency' SubClassOf 'Disorder of carbohydrate absorption and transport' 'Chronic diarrhea due to glucoamylase deficiency' SubClassOf 'Congenital intestinal disease due to an enzymatic defect' 'Chronic diarrhea due to glucoamylase deficiency' SubClassOf 'Disorder of carbohydrate absorption and transport' 'Chronic diarrhea due to glucoamylase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044976 'Chronic diarrhea due to glucoamylase deficiency' SubClassOf 'Congenital intestinal disease due to an enzymatic defect' 'Chronic diarrhea due to glucoamylase deficiency' SubClassOf 'Metabolic disease with intestinal involvement' 'Chronic diarrhea due to glucoamylase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0044751 http://www.ebi.ac.uk/efo/EFO_0008861 PhIP-seq 'PhIP-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0008862 PIP-Seq 'PIP-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008863 PLATE-Seq 'PLATE-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008864 PMA 'PMA' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0007533 vasomotor rhinitis 'vasomotor rhinitis' SubClassOf 'allergic rhinitis' 'vasomotor rhinitis' SubClassOf 'allergic rhinitis' http://www.ebi.ac.uk/efo/EFO_0007532 uterine corpus cancer 'uterine corpus cancer' SubClassOf 'uterine carcinoma' 'uterine corpus cancer' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002715 'uterine corpus cancer' SubClassOf 'uterine carcinoma' 'uterine corpus cancer' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021254 http://www.ebi.ac.uk/efo/EFO_0007531 urogenital tuberculosis 'urogenital tuberculosis' SubClassOf 'Tuberculosis' 'urogenital tuberculosis' SubClassOf 'disease of genitourinary system' 'urogenital tuberculosis' SubClassOf 'Tuberculosis' 'urogenital tuberculosis' SubClassOf 'has_disease_location' some 'genitourinary system' 'urogenital tuberculosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000368 http://www.ebi.ac.uk/efo/EFO_0007530 urinary schistosomiasis 'urinary schistosomiasis' SubClassOf 'parasitic infection' 'urinary schistosomiasis' SubClassOf 'bladder disease' 'urinary schistosomiasis' SubClassOf 'schistosomiasis' 'urinary schistosomiasis' SubClassOf 'parasitic infection' 'urinary schistosomiasis' SubClassOf 'urinary tract infection' 'urinary schistosomiasis' SubClassOf 'has_disease_location' some ('urinary bladder' or ('part_of' some 'urinary bladder')) http://www.ebi.ac.uk/efo/EFO_0008860 Perturb-Seq 'Perturb-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0007537 vestibular neuronitis 'vestibular neuronitis' SubClassOf 'head and neck disorder' 'vestibular neuronitis' SubClassOf 'auditory system disease' 'vestibular neuronitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001563 'vestibular neuronitis' SubClassOf 'head and neck disorder' 'vestibular neuronitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002122 'vestibular neuronitis' SubClassOf 'has_disease_location' some ('internal ear' or ('part_of' some 'internal ear')) http://www.ebi.ac.uk/efo/EFO_0008869 PRO-seq 'PRO-seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0007536 vesicoureteral reflux 'vesicoureteral reflux' SubClassOf 'bladder disease' 'vesicoureteral reflux' SubClassOf 'bladder disease' 'vesicoureteral reflux' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001926 'vesicoureteral reflux' SubClassOf 'has_disease_location' some ('ureter' or ('part_of' some 'ureter')) http://www.ebi.ac.uk/efo/EFO_0007535 verrucous carcinoma 'verrucous carcinoma' SubClassOf 'squamous cell carcinoma' 'verrucous carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002979 'verrucous carcinoma' SubClassOf 'squamous cell carcinoma' http://www.ebi.ac.uk/efo/EFO_0007534 Venezuelan equine encephalitis 'Venezuelan equine encephalitis' SubClassOf 'encephalomyelitis' 'Venezuelan equine encephalitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0018087 'Venezuelan equine encephalitis' SubClassOf 'Alphavirus infectious disease' 'Venezuelan equine encephalitis' SubClassOf 'encephalomyelitis' 'Venezuelan equine encephalitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024318 http://www.ebi.ac.uk/efo/EFO_0008865 Pol II CLIP 'Pol II CLIP' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0008866 Poly(A)-ClickSeq 'Poly(A)-ClickSeq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.ebi.ac.uk/efo/EFO_0007539 viral hemorrhagic septicemia 'viral hemorrhagic septicemia' SubClassOf 'animal disease' 'viral hemorrhagic septicemia' SubClassOf 'Rhabdoviridae infectious disease' 'viral hemorrhagic septicemia' SubClassOf 'animal disease' 'viral hemorrhagic septicemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024934 http://www.ebi.ac.uk/efo/EFO_0008867 Pool-Seq 'Pool-Seq' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'DNA')) http://www.ebi.ac.uk/efo/EFO_0007538 viral encephalitis 'viral encephalitis' SubClassOf 'encephalomyelitis' 'viral encephalitis' SubClassOf 'encephalomyelitis' 'viral encephalitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019956 'viral encephalitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024318 'viral encephalitis' SubClassOf 'has_disease_location' some ('brain' or ('part_of' some 'brain')) 'viral encephalitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020067 http://www.ebi.ac.uk/efo/EFO_0008868 PRO-cap 'PRO-cap' SubClassOf 'realizes' some ('analyte role' and ('role_of' some 'RNA')) http://www.orpha.net/ORDO/Orphanet_269008 Isolated focal cortical dysplasia type IIb 'Isolated focal cortical dysplasia type IIb' SubClassOf 'Isolated focal cortical dysplasia type II' 'Isolated focal cortical dysplasia type IIb' SubClassOf 'Isolated focal cortical dysplasia type II' http://purl.obolibrary.org/obo/CHEBI_86468 dimethylarginine 'dimethylarginine' SubClassOf 'chemical entity' 'dimethylarginine' SubClassOf 'chemical entity' http://www.orpha.net/ORDO/Orphanet_269001 Isolated focal cortical dysplasia type IIa 'Isolated focal cortical dysplasia type IIa' SubClassOf 'Isolated focal cortical dysplasia type II' 'Isolated focal cortical dysplasia type IIa' SubClassOf 'Isolated focal cortical dysplasia type II' http://www.orpha.net/ORDO/Orphanet_306498 PTEN hamartoma tumor syndrome 'PTEN hamartoma tumor syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'PTEN hamartoma tumor syndrome' SubClassOf 'Malformation syndrome with hamartosis' 'PTEN hamartoma tumor syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'PTEN hamartoma tumor syndrome' SubClassOf 'Malformation syndrome with hamartosis' http://purl.obolibrary.org/obo/UBERON_0002447 palatine gland 'palatine gland' SubClassOf 'minor salivary gland' 'palatine gland' SubClassOf 'mucous gland' http://purl.obolibrary.org/obo/UBERON_0014410 fibularis quartus 'fibularis quartus' SubClassOf 'peroneus' http://purl.obolibrary.org/obo/UBERON_0002443 choroidal blood vessel 'choroidal blood vessel' SubClassOf 'head blood vessel' http://purl.obolibrary.org/obo/UBERON_0002445 ulnare 'ulnare' SubClassOf 'proximal carpal bone' http://purl.obolibrary.org/obo/UBERON_0002446 patella 'patella' SubClassOf 'sesamoid bone' 'patella' SubClassOf 'leg bone' http://purl.obolibrary.org/obo/UBERON_0002440 inferior cervical ganglion 'inferior cervical ganglion' SubClassOf 'cervical ganglion' http://purl.obolibrary.org/obo/UBERON_0002441 cervicothoracic ganglion 'cervicothoracic ganglion' SubClassOf 'cervical ganglion' http://purl.obolibrary.org/obo/UBERON_0002458 spinal artery 'spinal artery' SubClassOf 'systemic artery' http://purl.obolibrary.org/obo/UBERON_0002459 inferior palpebral vein 'inferior palpebral vein' SubClassOf 'palpebral vein' http://purl.obolibrary.org/obo/UBERON_0002454 dorsal metacarpal artery 'dorsal metacarpal artery' SubClassOf 'artery' http://purl.obolibrary.org/obo/UBERON_0002455 common plantar digital arteries 'common plantar digital arteries' SubClassOf 'plantar digital artery' http://purl.obolibrary.org/obo/UBERON_0002456 internal thoracic artery 'internal thoracic artery' SubClassOf 'systemic artery' http://purl.obolibrary.org/obo/UBERON_0002457 intersomitic artery 'intersomitic artery' SubClassOf 'intersegmental vessel' 'intersomitic artery' SubClassOf 'artery' http://purl.obolibrary.org/obo/UBERON_0002451 endometrial gland 'endometrial gland' SubClassOf 'female reproductive gland' 'endometrial gland' SubClassOf 'mucous gland' http://purl.obolibrary.org/obo/UBERON_0002460 vesical vein 'vesical vein' SubClassOf 'vein' http://purl.obolibrary.org/obo/UBERON_0002465 lymphoid system 'lymphoid system' SubClassOf 'anatomical system' http://purl.obolibrary.org/obo/UBERON_0002461 anterior abdominal wall muscle 'anterior abdominal wall muscle' SubClassOf 'muscle of abdomen' http://purl.obolibrary.org/obo/UBERON_0002462 erector spinae muscle group 'erector spinae muscle group' SubClassOf 'axial muscle' 'erector spinae muscle group' SubClassOf 'muscle of vertebral column' http://purl.obolibrary.org/obo/UBERON_0002463 muscle of posterior compartment of hindlimb stylopod 'muscle of posterior compartment of hindlimb stylopod' SubClassOf 'hindlimb stylopod muscle' http://purl.obolibrary.org/obo/UBERON_0002409 pericardial fluid 'pericardial fluid' SubClassOf 'secretion of serous gland' http://purl.obolibrary.org/obo/UBERON_0002403 internal intercostal muscle 'internal intercostal muscle' SubClassOf 'intercostal muscle' http://purl.obolibrary.org/obo/UBERON_0002404 transversus thoracis 'transversus thoracis' SubClassOf 'chest muscle' http://purl.obolibrary.org/obo/UBERON_0002419 skin gland 'skin gland' SubClassOf 'gland of integumental system' http://purl.obolibrary.org/obo/UBERON_0002414 lumbar vertebra 'lumbar vertebra' SubClassOf 'bone of dorsum' 'lumbar vertebra' SubClassOf 'abdominal segment bone' 'lumbar vertebra' SubClassOf 'vertebra' http://purl.obolibrary.org/obo/UBERON_0014401 renal venous blood vessel 'renal venous blood vessel' SubClassOf 'venous blood vessel' 'renal venous blood vessel' SubClassOf 'kidney blood vessel' http://purl.obolibrary.org/obo/UBERON_0014405 nymph stage 'nymph stage' SubClassOf 'larval stage' http://purl.obolibrary.org/obo/UBERON_0002413 cervical vertebra 'cervical vertebra' SubClassOf 'trunk or cervical vertebra' 'cervical vertebra' SubClassOf 'neck bone' 'cervical vertebra' SubClassOf 'bone of dorsum' http://purl.obolibrary.org/obo/UBERON_0002429 cervical lymph node 'cervical lymph node' SubClassOf 'lymph node' http://purl.obolibrary.org/obo/UBERON_0002426 chest muscle 'chest muscle' SubClassOf 'thoracic segment muscle' http://purl.obolibrary.org/obo/UBERON_0002427 arm skin 'arm skin' SubClassOf 'forelimb skin' http://purl.obolibrary.org/obo/UBERON_0002422 fourth ventricle 'fourth ventricle' SubClassOf 'brain ventricle' http://purl.obolibrary.org/obo/UBERON_0002424 oral epithelium 'oral epithelium' SubClassOf 'epithelium of mucosa' 'oral epithelium' SubClassOf 'digestive tract epithelium' http://purl.obolibrary.org/obo/UBERON_2002109 uroneural 2 'uroneural 2' SubClassOf 'uroneural' http://purl.obolibrary.org/obo/UBERON_0014490 middle phalanx of digit 4 'middle phalanx of digit 4' SubClassOf 'middle phalanx' http://purl.obolibrary.org/obo/UBERON_0014491 middle phalanx of digit 5 'middle phalanx of digit 5' SubClassOf 'middle phalanx' http://purl.obolibrary.org/obo/UBERON_2002141 annular ligament 'annular ligament' SubClassOf 'skeletal ligament' http://purl.obolibrary.org/obo/UBERON_0014464 renal fat pad 'renal fat pad' SubClassOf 'abdominal fat pad' http://purl.obolibrary.org/obo/UBERON_0014463 cardiac ganglion 'cardiac ganglion' SubClassOf 'parasympathetic ganglion' http://purl.obolibrary.org/obo/UBERON_2002147 arrector muscle 'arrector muscle' SubClassOf 'skeletal muscle organ' http://purl.obolibrary.org/obo/MONDO_0021501 benign neoplasm of small intestine 'benign neoplasm of small intestine' SubClassOf 'intestinal benign neoplasm' 'benign neoplasm of small intestine' SubClassOf 'small intestine neoplasm' http://purl.obolibrary.org/obo/UBERON_0002478 orbitosphenoid 'orbitosphenoid' SubClassOf 'facial bone' 'orbitosphenoid' SubClassOf 'endochondral bone' 'orbitosphenoid' SubClassOf 'neurocranium bone' http://purl.obolibrary.org/obo/UBERON_0002475 saphenous nerve 'saphenous nerve' SubClassOf 'leg nerve' http://purl.obolibrary.org/obo/UBERON_0014453 gustatory epithelium of palate 'gustatory epithelium of palate' SubClassOf 'gustatory epithelium' 'gustatory epithelium of palate' SubClassOf 'oral epithelium' http://purl.obolibrary.org/obo/UBERON_0014452 gustatory epithelium of tongue 'gustatory epithelium of tongue' SubClassOf 'epithelium of tongue' 'gustatory epithelium of tongue' SubClassOf 'gustatory epithelium' http://purl.obolibrary.org/obo/UBERON_2002132 hypural 7 'hypural 7' SubClassOf 'hypural' http://purl.obolibrary.org/obo/UBERON_0014458 female bulbospongiosus muscle 'female bulbospongiosus muscle' SubClassOf 'bulbospongiosus muscle' http://purl.obolibrary.org/obo/UBERON_0014455 subcutaneous abdominal adipose tissue 'subcutaneous abdominal adipose tissue' SubClassOf 'adipose tissue of abdominal region' 'subcutaneous abdominal adipose tissue' SubClassOf 'subcutaneous adipose tissue' http://purl.obolibrary.org/obo/UBERON_0002489 coronal suture 'coronal suture' SubClassOf 'cranial suture' http://purl.obolibrary.org/obo/UBERON_0014483 distal phalanx of digit 1 'distal phalanx of digit 1' SubClassOf 'distal phalanx' http://purl.obolibrary.org/obo/UBERON_0014482 ischial callosity 'ischial callosity' SubClassOf 'skin of pelvis' http://purl.obolibrary.org/obo/UBERON_0014481 sex skin 'sex skin' SubClassOf 'zone of skin' http://purl.obolibrary.org/obo/UBERON_0014480 blood feather 'blood feather' SubClassOf 'feather' http://purl.obolibrary.org/obo/UBERON_0014487 distal phalanx of digit 5 'distal phalanx of digit 5' SubClassOf 'distal phalanx' http://purl.obolibrary.org/obo/UBERON_0014486 distal phalanx of digit 4 'distal phalanx of digit 4' SubClassOf 'distal phalanx' http://purl.obolibrary.org/obo/UBERON_0014485 distal phalanx of digit 3 'distal phalanx of digit 3' SubClassOf 'distal phalanx' http://purl.obolibrary.org/obo/UBERON_0014484 distal phalanx of digit 2 'distal phalanx of digit 2' SubClassOf 'distal phalanx' http://purl.obolibrary.org/obo/UBERON_2002123 neural arch 5 'neural arch 5' SubClassOf 'neural arch' http://purl.obolibrary.org/obo/UBERON_2002122 pouch scale 'pouch scale' SubClassOf 'dermal scale' http://purl.obolibrary.org/obo/UBERON_0014489 middle phalanx of digit 3 'middle phalanx of digit 3' SubClassOf 'middle phalanx' http://purl.obolibrary.org/obo/UBERON_0014488 middle phalanx of digit 2 'middle phalanx of digit 2' SubClassOf 'middle phalanx' http://purl.obolibrary.org/obo/UBERON_0002490 frontal suture 'frontal suture' SubClassOf 'cranial suture' http://purl.obolibrary.org/obo/UBERON_2002127 myorhabdoid bone 'myorhabdoid bone' SubClassOf 'intermuscular bone' http://purl.obolibrary.org/obo/UBERON_0002491 lambdoid suture 'lambdoid suture' SubClassOf 'cranial suture' http://purl.obolibrary.org/obo/UBERON_0002492 sagittal suture 'sagittal suture' SubClassOf 'cranial suture' http://purl.obolibrary.org/obo/UBERON_0002493 uterine artery 'uterine artery' SubClassOf 'ovarian artery' 'uterine artery' SubClassOf 'genital artery' http://purl.obolibrary.org/obo/MONDO_0021525 benign neoplasm of corpus uteri 'benign neoplasm of corpus uteri' SubClassOf 'corpus uteri neoplasm' 'benign neoplasm of corpus uteri' SubClassOf 'uterine benign neoplasm' http://purl.obolibrary.org/obo/UBERON_0002495 long bone 'long bone' SubClassOf 'bone' http://purl.obolibrary.org/obo/MONDO_0021511 benign neoplasm of adrenal gland 'benign neoplasm of adrenal gland' SubClassOf 'adrenal gland neoplasm' 'benign neoplasm of adrenal gland' SubClassOf 'benign endocrine neoplasm' http://purl.obolibrary.org/obo/UBERON_2002112 preural 3 vertebra 'preural 3 vertebra' SubClassOf 'preural vertebra' http://purl.obolibrary.org/obo/UBERON_0014479 elephant trunk 'elephant trunk' SubClassOf 'appendage' 'trunk' DisjointWith 'elephant trunk' http://purl.obolibrary.org/obo/UBERON_2002115 uroneural 3 'uroneural 3' SubClassOf 'uroneural' http://purl.obolibrary.org/obo/UBERON_2002062 branched caudal fin ray 'branched caudal fin ray' SubClassOf 'caudal fin lepidotrichium' http://purl.obolibrary.org/obo/UBERON_2002061 predorsal vertebra 'predorsal vertebra' SubClassOf 'vertebra' http://purl.obolibrary.org/obo/UBERON_2002064 uroneural 1 'uroneural 1' SubClassOf 'uroneural' http://purl.obolibrary.org/obo/MONDO_0008565 familial thyroglossal duct cyst 'familial thyroglossal duct cyst' SubClassOf 'genetic otorhinolaryngologic disease' 'familial thyroglossal duct cyst' SubClassOf 'Thyroglossal Duct Cyst' 'familial thyroglossal duct cyst' SubClassOf 'head and neck neoplasia' 'familial thyroglossal duct cyst' SubClassOf 'congenital thyroid malformation without hypothyroidism' 'familial thyroglossal duct cyst' EquivalentTo 'Thyroglossal Duct Cyst' and ('has modifier' some 'inherited') 'familial thyroglossal duct cyst' SubClassOf 'thyroid tumor' 'familial thyroglossal duct cyst' SubClassOf 'cysts and fistulae of the face and oral cavity' http://purl.obolibrary.org/obo/UBERON_2002065 ural centrum 1 'ural centrum 1' SubClassOf 'ural centrum' 'ural centrum 1' SubClassOf 'bone of dorsum' http://purl.obolibrary.org/obo/MONDO_0021545 myomatous neoplasm 'myomatous neoplasm' SubClassOf 'mesenchymal cell neoplasm' 'myomatous neoplasm' SubClassOf 'muscle tissue disease' http://purl.obolibrary.org/obo/MONDO_0021533 intestinal neuroendocrine tumor G1 'intestinal neuroendocrine tumor G1' SubClassOf 'digestive system neuroendocrine tumor, grade 1/2' 'intestinal neuroendocrine tumor G1' SubClassOf 'carcinoid tumor' 'intestinal neuroendocrine tumor G1' SubClassOf 'intestinal neuroendocrine neoplasm' 'intestinal neuroendocrine tumor G1' SubClassOf 'has modifier' some 'tumor grade 1, general grading system' http://purl.obolibrary.org/obo/UBERON_2002053 bony plate 'bony plate' SubClassOf 'dermal bone' http://purl.obolibrary.org/obo/UBERON_2002055 vertebra 6 - vertebra 7 joint 'vertebra 6 - vertebra 7 joint' SubClassOf 'skeletal joint' http://purl.obolibrary.org/obo/UBERON_2002054 vertebra 5-vertebra 6 joint 'vertebra 5-vertebra 6 joint' SubClassOf 'skeletal joint' http://purl.obolibrary.org/obo/UBERON_2002056 hypural 6 'hypural 6' SubClassOf 'hypural' http://purl.obolibrary.org/obo/MONDO_0008572 tibia, hypoplasia or aplasia of, with polydactyly 'tibia, hypoplasia or aplasia of, with polydactyly' SubClassOf 'inherited genetic disease' http://purl.obolibrary.org/obo/UBERON_2002059 posttemporal-parietal joint 'posttemporal-parietal joint' SubClassOf 'skeletal joint' http://purl.obolibrary.org/obo/UBERON_2002058 Weberian complex centrum 'Weberian complex centrum' SubClassOf 'bony vertebral centrum' http://purl.obolibrary.org/obo/MONDO_0021539 hamartoma of skin appendage 'hamartoma of skin appendage' SubClassOf 'hamartoma' 'hamartoma of skin appendage' SubClassOf 'epidermal appendage tumor' http://purl.obolibrary.org/obo/UBERON_2002040 inter-coracoid joint 'inter-coracoid joint' SubClassOf 'joint of girdle' http://purl.obolibrary.org/obo/MONDO_0021553 transverse myelitis 'transverse myelitis' SubClassOf 'has modifier' some 'rare' 'transverse myelitis' SubClassOf 'Myelitis' http://purl.obolibrary.org/obo/UBERON_2002033 prootic-pterosphenoid joint 'prootic-pterosphenoid joint' SubClassOf 'skeletal joint' http://purl.obolibrary.org/obo/UBERON_2002032 lateral ethmoid-frontal joint 'lateral ethmoid-frontal joint' SubClassOf 'skeletal joint' http://purl.obolibrary.org/obo/MONDO_0008596 trichorhinophalangeal syndrome type I 'trichorhinophalangeal syndrome type I' SubClassOf 'autosomal dominant disease' 'trichorhinophalangeal syndrome type I' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/UBERON_2002034 prootic-exoccipital joint 'prootic-exoccipital joint' SubClassOf 'skeletal joint' http://purl.obolibrary.org/obo/UBERON_2002038 basioccipital-exoccipital joint 'basioccipital-exoccipital joint' SubClassOf 'skeletal joint' http://purl.obolibrary.org/obo/MONDO_0021581 connective tissue neoplasm 'connective tissue neoplasm' SubClassOf 'neoplasm' 'connective tissue neoplasm' SubClassOf 'connective tissue disease' http://purl.obolibrary.org/obo/MONDO_0021582 lentigo 'lentigo' SubClassOf 'benign neoplasm of skin' http://purl.obolibrary.org/obo/MONDO_0021583 melanocytic skin neoplasm 'melanocytic skin neoplasm' SubClassOf 'melanocytic neoplasm' 'melanocytic skin neoplasm' SubClassOf 'skin neoplasm' http://purl.obolibrary.org/obo/MONDO_0021580 neoplasm of jaw 'neoplasm of jaw' SubClassOf 'skull neoplasm' 'neoplasm of jaw' SubClassOf 'disease of facial skeleton' 'neoplasm of jaw' SubClassOf 'mouth neoplasm' 'neoplasm of jaw' SubClassOf 'digestive system neoplasm' http://purl.obolibrary.org/obo/UBERON_2002092 rostral cartilage 'rostral cartilage' SubClassOf 'cartilage element of chondrocranium' http://purl.obolibrary.org/obo/UBERON_2002082 basal fulcrum 'basal fulcrum' SubClassOf 'fulcrum' http://purl.obolibrary.org/obo/UBERON_2002084 pleurostyle 'pleurostyle' SubClassOf 'uroneural' http://purl.obolibrary.org/obo/UBERON_2002083 fringing fulcrum 'fringing fulcrum' SubClassOf 'fulcrum' http://purl.obolibrary.org/obo/UBERON_2002086 pelvic axillary process 'pelvic axillary process' SubClassOf 'dermal bone' 'pelvic axillary process' SubClassOf 'bone of pelvic complex' 'pelvic axillary process' SubClassOf 'bone of free limb or fin' 'pelvic axillary process' SubClassOf 'fin bone' http://purl.obolibrary.org/obo/UBERON_2002085 ural centrum 'ural centrum' SubClassOf 'endochondral bone' 'ural centrum' SubClassOf 'fin bone' http://purl.obolibrary.org/obo/UBERON_2002088 interhaemal bone 'interhaemal bone' SubClassOf 'endochondral bone' http://purl.obolibrary.org/obo/UBERON_2002087 pectoral axillary process 'pectoral axillary process' SubClassOf 'fin bone' 'pectoral axillary process' SubClassOf 'bone of pectoral complex' 'pectoral axillary process' SubClassOf 'bone of free limb or fin' 'pectoral axillary process' SubClassOf 'dermal bone' http://purl.obolibrary.org/obo/UBERON_2002089 gular plate 'gular plate' SubClassOf 'dermal bone' http://purl.obolibrary.org/obo/UBERON_2002077 lateropterygium 'lateropterygium' SubClassOf 'bone of pelvic complex' 'lateropterygium' SubClassOf 'endochondral bone' 'lateropterygium' SubClassOf 'bone of free limb or fin' 'lateropterygium' SubClassOf 'fin bone' http://purl.obolibrary.org/obo/UBERON_2002079 leptocephalous larva 'leptocephalous larva' SubClassOf 'larva' http://purl.obolibrary.org/obo/UBERON_2002078 hypural plate 'hypural plate' SubClassOf 'endochondral bone' 'hypural plate' SubClassOf 'fin bone' http://purl.obolibrary.org/obo/UBERON_0002506 iris epithelium 'iris epithelium' SubClassOf 'atypical epithelium' 'iris epithelium' SubClassOf 'eye epithelium' http://purl.obolibrary.org/obo/UBERON_0002507 abdominal lymph node 'abdominal lymph node' SubClassOf 'lymph node' http://purl.obolibrary.org/obo/UBERON_0002508 celiac lymph node 'celiac lymph node' SubClassOf 'visceral abdominal lymph node' http://purl.obolibrary.org/obo/UBERON_0002505 spiral modiolar artery 'spiral modiolar artery' SubClassOf 'artery' 'spiral modiolar artery' SubClassOf 'head blood vessel' http://purl.obolibrary.org/obo/UBERON_0002500 zygomatic arch 'zygomatic arch' SubClassOf 'facial bone' 'zygomatic arch' SubClassOf 'neurocranium bone' http://purl.obolibrary.org/obo/UBERON_6016022 abdominal histoblast primordium 'abdominal histoblast primordium' SubClassOf 'embryonic structure' 'abdominal histoblast primordium' SubClassOf 'primordium' http://purl.obolibrary.org/obo/UBERON_0004989 mucosa of appendix 'mucosa of appendix' SubClassOf 'cecum mucosa' http://purl.obolibrary.org/obo/UBERON_0004988 mucosa of cystic duct 'mucosa of cystic duct' SubClassOf 'mucosa of biliary tree' http://purl.obolibrary.org/obo/UBERON_0002329 somite 'somite' SubClassOf 'epithelial vesicle' http://purl.obolibrary.org/obo/UBERON_0004985 mucosa of ejaculatory duct 'mucosa of ejaculatory duct' SubClassOf 'reproductive system mucosa' http://purl.obolibrary.org/obo/UBERON_0004984 mucosa of seminal vesicle 'mucosa of seminal vesicle' SubClassOf 'reproductive system mucosa' http://purl.obolibrary.org/obo/UBERON_0002324 muscle of back 'muscle of back' SubClassOf 'skeletal muscle of trunk' http://purl.obolibrary.org/obo/UBERON_0004987 mucosa of laryngopharynx 'mucosa of laryngopharynx' SubClassOf 'pharyngeal mucosa' http://purl.obolibrary.org/obo/UBERON_0002325 epithelium of urethra 'epithelium of urethra' SubClassOf 'endo-epithelium' 'epithelium of urethra' SubClassOf 'meso-epithelium' 'epithelium of urethra' SubClassOf 'epithelial tube' http://purl.obolibrary.org/obo/UBERON_0004986 mucosa of deferent duct 'mucosa of deferent duct' SubClassOf 'reproductive system mucosa' http://purl.obolibrary.org/obo/UBERON_0004980 mucosa of ureter 'mucosa of ureter' SubClassOf 'mucosa' http://purl.obolibrary.org/obo/UBERON_0004983 mucosa of vagina 'mucosa of vagina' SubClassOf 'reproductive system mucosa' http://purl.obolibrary.org/obo/UBERON_0004982 mucosa of epiglottis 'mucosa of epiglottis' SubClassOf 'mucosa of laryngopharynx' http://purl.obolibrary.org/obo/UBERON_0004999 mucosa of biliary tree 'mucosa of biliary tree' SubClassOf 'mucosa' http://purl.obolibrary.org/obo/UBERON_0002339 epithelium of lobar bronchus 'epithelium of lobar bronchus' SubClassOf 'lung epithelium' 'epithelium of lobar bronchus' SubClassOf 'epithelium of bronchus' http://purl.obolibrary.org/obo/UBERON_0004990 mucosa of ascending colon 'mucosa of ascending colon' SubClassOf 'colonic mucosa' http://purl.obolibrary.org/obo/UBERON_0004996 mucosa of cardia of stomach 'mucosa of cardia of stomach' SubClassOf 'mucosa of stomach' http://purl.obolibrary.org/obo/UBERON_0004995 mucosa of body of stomach 'mucosa of body of stomach' SubClassOf 'mucosa of stomach' http://purl.obolibrary.org/obo/UBERON_0002335 macula densa 'macula densa' SubClassOf 'nephron epithelium' http://purl.obolibrary.org/obo/UBERON_0004998 mucosa of pylorus 'mucosa of pylorus' SubClassOf 'mucosa of stomach' http://purl.obolibrary.org/obo/UBERON_0004997 mucosa of pyloric antrum 'mucosa of pyloric antrum' SubClassOf 'mucosa of pylorus' http://purl.obolibrary.org/obo/UBERON_0004992 mucosa of descending colon 'mucosa of descending colon' SubClassOf 'colonic mucosa' http://purl.obolibrary.org/obo/UBERON_0002330 exocrine system 'circulatory system' DisjointWith 'exocrine system' 'reproductive system' DisjointWith 'exocrine system' 'exocrine system' SubClassOf 'anatomical system' 'biliary system' DisjointWith 'exocrine system' 'exocrine system' DisjointWith 'integumental system' 'exocrine system' DisjointWith 'hepatobiliary system' 'renal system' DisjointWith 'exocrine system' 'exocrine system' DisjointWith 'hematopoietic system' 'skeletal system' DisjointWith 'exocrine system' 'gustatory system' DisjointWith 'exocrine system' 'musculoskeletal system' DisjointWith 'exocrine system' 'exocrine system' DisjointWith 'immune system' 'respiratory system' DisjointWith 'exocrine system' 'endocrine system' DisjointWith 'exocrine system' 'nervous system' DisjointWith 'exocrine system' 'exocrine system' DisjointWith 'entire sense organ system' 'digestive system' DisjointWith 'exocrine system' http://purl.obolibrary.org/obo/UBERON_0004991 mucosa of transverse colon 'mucosa of transverse colon' SubClassOf 'colonic mucosa' http://purl.obolibrary.org/obo/UBERON_0004994 mucosa of fundus of stomach 'mucosa of fundus of stomach' SubClassOf 'mucosa of stomach' http://purl.obolibrary.org/obo/UBERON_0004993 mucosa of sigmoid colon 'mucosa of sigmoid colon' SubClassOf 'colonic mucosa' http://purl.obolibrary.org/obo/UBERON_0002346 neurectoderm 'neurectoderm' SubClassOf 'germ layer' http://purl.obolibrary.org/obo/UBERON_0002347 thoracic vertebra 'thoracic vertebra' SubClassOf 'bone of dorsum' 'thoracic vertebra' SubClassOf 'thoracic segment bone' 'thoracic vertebra' SubClassOf 'vertebra' http://purl.obolibrary.org/obo/UBERON_0002340 epithelium of main bronchus 'epithelium of main bronchus' SubClassOf 'epithelium of bronchus' http://purl.obolibrary.org/obo/UBERON_0002341 epithelium of segmental bronchus 'epithelium of segmental bronchus' SubClassOf 'lung epithelium' 'epithelium of segmental bronchus' SubClassOf 'epithelium of bronchus' http://purl.obolibrary.org/obo/UBERON_0002342 neural crest 'neural crest' SubClassOf 'germ layer / neural crest' http://purl.obolibrary.org/obo/UBERON_0002343 abdomen musculature 'abdomen musculature' SubClassOf 'musculature of trunk' http://purl.obolibrary.org/obo/UBERON_0016927 mucus cocoon 'mucus cocoon' SubClassOf 'mucus' http://purl.obolibrary.org/obo/UBERON_0016926 mucus body coating 'mucus body coating' SubClassOf 'skin mucus' http://purl.obolibrary.org/obo/UBERON_0016910 frenulum of lip 'frenulum of lip' SubClassOf 'mucosa of lip' 'frenulum of lip' SubClassOf 'oral frenulum' http://purl.obolibrary.org/obo/UBERON_0016918 upper vermilion 'upper vermilion' SubClassOf 'vermilion' 'upper vermilion' SubClassOf 'skin of upper lip' http://purl.obolibrary.org/obo/UBERON_0016919 lower vermilion 'lower vermilion' SubClassOf 'skin of lower lip' 'lower vermilion' SubClassOf 'vermilion' http://purl.obolibrary.org/obo/UBERON_0016912 frenulum of upper lip 'frenulum of upper lip' SubClassOf 'mucosa of upper lip' 'frenulum of upper lip' SubClassOf 'frenulum of lip' http://purl.obolibrary.org/obo/UBERON_0016913 frenulum of lower lip 'frenulum of lower lip' SubClassOf 'mucosa of lower lip' 'frenulum of lower lip' SubClassOf 'frenulum of lip' http://purl.obolibrary.org/obo/UBERON_0016915 vermilion 'vermilion' SubClassOf 'skin of head' http://purl.obolibrary.org/obo/UBERON_0016943 lower premolar tooth 'lower premolar tooth' SubClassOf 'premolar tooth' 'lower premolar tooth' SubClassOf 'tooth of lower jaw' http://purl.obolibrary.org/obo/UBERON_0016944 upper premolar tooth 'upper premolar tooth' SubClassOf 'tooth of upper jaw' 'upper premolar tooth' SubClassOf 'premolar tooth' http://purl.obolibrary.org/obo/UBERON_0002306 nasal mucus 'nasal mucus' SubClassOf 'respiratory system mucus' http://purl.obolibrary.org/obo/UBERON_0002307 choroid plexus of lateral ventricle 'choroid plexus of lateral ventricle' SubClassOf 'choroid plexus' http://purl.obolibrary.org/obo/UBERON_0014380 flexor digitorum brevis muscle 'flexor digitorum brevis muscle' SubClassOf 'intrinsic muscle of pes' http://purl.obolibrary.org/obo/UBERON_0014388 kidney collecting duct epithelium 'kidney collecting duct epithelium' SubClassOf 'simple cuboidal epithelium' 'kidney collecting duct epithelium' SubClassOf 'nephron epithelium' http://purl.obolibrary.org/obo/UBERON_0002399 lesser omentum 'lesser omentum' SubClassOf 'omentum' http://purl.obolibrary.org/obo/UBERON_0002395 talus 'talus' SubClassOf 'proximal tarsal bone' http://purl.obolibrary.org/obo/UBERON_0002396 vomer 'vomer' SubClassOf 'irregular bone' 'vomer' SubClassOf 'bone of upper jaw' 'vomer' SubClassOf 'palate bone' http://purl.obolibrary.org/obo/UBERON_0002397 maxilla 'maxilla' SubClassOf 'intramembranous bone' 'maxilla' SubClassOf 'dermal bone' 'maxilla' SubClassOf 'bone of upper jaw' 'maxilla' SubClassOf 'pneumatized bone' http://purl.obolibrary.org/obo/UBERON_0014377 hypothenar muscle 'hypothenar muscle' SubClassOf 'intrinsic muscle of manus' http://purl.obolibrary.org/obo/UBERON_0014376 thenar muscle 'thenar muscle' SubClassOf 'intrinsic muscle of manus' http://purl.obolibrary.org/obo/UBERON_0014375 intrinsic muscle of manus 'intrinsic muscle of manus' SubClassOf 'muscle of manus' 'intrinsic muscle of manus' SubClassOf 'intrinsic muscle' http://purl.obolibrary.org/obo/UBERON_0014379 adductor hallucis muscle 'adductor hallucis muscle' SubClassOf 'intrinsic muscle of pes' http://purl.obolibrary.org/obo/UBERON_0014378 intrinsic muscle of pes 'intrinsic muscle of pes' SubClassOf 'muscle of pes' 'intrinsic muscle of pes' SubClassOf 'intrinsic muscle' http://purl.obolibrary.org/obo/UBERON_0014391 palmar/plantar sweat gland 'palmar/plantar sweat gland' SubClassOf 'eccrine sweat gland' http://purl.obolibrary.org/obo/UBERON_0014395 proximal mesopodial bone 'proximal mesopodial bone' SubClassOf 'mesopodium bone' http://purl.obolibrary.org/obo/UBERON_0014394 uterine fat pad 'uterine fat pad' SubClassOf 'fat pad' http://purl.obolibrary.org/obo/UBERON_0014393 sweat of axilla 'sweat of axilla' SubClassOf 'sweat' http://purl.obolibrary.org/obo/UBERON_0014392 sweat of palm 'sweat of palm' SubClassOf 'sweat' http://purl.obolibrary.org/obo/UBERON_0014396 interscapular fat pad 'interscapular fat pad' SubClassOf 'fat pad' http://purl.obolibrary.org/obo/UBERON_2002020 hypomaxilla 'hypomaxilla' SubClassOf 'dermal bone' 'hypomaxilla' SubClassOf 'bone of upper jaw' http://purl.obolibrary.org/obo/UBERON_2002022 dermethmoid 'dermethmoid' SubClassOf 'dermal bone' 'dermethmoid' SubClassOf 'neurocranium bone' http://purl.obolibrary.org/obo/UBERON_2002023 second preethmoid 'second preethmoid' SubClassOf 'neurocranium bone' 'second preethmoid' SubClassOf 'endochondral bone' http://purl.obolibrary.org/obo/UBERON_2002026 pectoral fin proximal radial bone 1 'pectoral fin proximal radial bone 1' SubClassOf 'pectoral fin proximal radial bone' http://purl.obolibrary.org/obo/UBERON_2002028 pectoral fin proximal radial bone 3 'pectoral fin proximal radial bone 3' SubClassOf 'pectoral fin proximal radial bone' http://purl.obolibrary.org/obo/UBERON_2002027 pectoral fin proximal radial bone 2 'pectoral fin proximal radial bone 2' SubClassOf 'pectoral fin proximal radial bone' http://purl.obolibrary.org/obo/UBERON_2002029 pectoral fin proximal radial bone 4 'pectoral fin proximal radial bone 4' SubClassOf 'pectoral fin proximal radial bone' http://purl.obolibrary.org/obo/UBERON_2002010 hyoideomandibular nerve 'hyoideomandibular nerve' SubClassOf 'nerve' http://purl.obolibrary.org/obo/UBERON_2002015 pharyngobranchial tooth plate 'pharyngobranchial tooth plate' SubClassOf 'pharyngeal tooth plate' http://purl.obolibrary.org/obo/UBERON_2002016 pharyngobranchial 4 tooth plate 'pharyngobranchial 4 tooth plate' SubClassOf 'pharyngobranchial tooth plate' http://purl.obolibrary.org/obo/UBERON_2002019 pterotic-posttemporal-supracleithrum 'pterotic-posttemporal-supracleithrum' SubClassOf 'endochondral bone' 'pterotic-posttemporal-supracleithrum' SubClassOf 'dermal bone' 'pterotic-posttemporal-supracleithrum' SubClassOf 'pectoral girdle bone' http://purl.obolibrary.org/obo/UBERON_0002361 pia mater 'pia mater' SubClassOf 'leptomeninx' http://purl.obolibrary.org/obo/UBERON_0002366 bulbo-urethral gland 'bulbo-urethral gland' SubClassOf 'male urethral gland' 'bulbo-urethral gland' SubClassOf 'seminal fluid secreting gland' 'bulbo-urethral gland' SubClassOf 'male accessory sex gland' http://purl.obolibrary.org/obo/UBERON_0002362 arachnoid mater 'arachnoid mater' SubClassOf 'leptomeninx' http://purl.obolibrary.org/obo/UBERON_0002363 dura mater 'dura mater' SubClassOf 'meninx' http://purl.obolibrary.org/obo/UBERON_0002365 exocrine gland 'exocrine gland' SubClassOf 'gland' http://purl.obolibrary.org/obo/MONDO_0021400 polyp of colon 'polyp of colon' SubClassOf 'polyp of large intestine' 'polyp of colon' SubClassOf 'colonic neoplasm' http://purl.obolibrary.org/obo/UBERON_2002005 canal plate 'canal plate' SubClassOf 'dermal bone' http://purl.obolibrary.org/obo/UBERON_2002007 supraneural 4 bone 'supraneural 4 bone' SubClassOf 'supraneural bone' http://purl.obolibrary.org/obo/UBERON_2002009 medial cartilage of palatine 'medial cartilage of palatine' SubClassOf 'pharyngeal arch cartilage' http://purl.obolibrary.org/obo/UBERON_0002377 muscle of neck 'muscle of neck' SubClassOf 'craniocervical muscle' http://purl.obolibrary.org/obo/UBERON_0002378 muscle of abdomen 'muscle of abdomen' SubClassOf 'abdominal segment muscle' http://purl.obolibrary.org/obo/UBERON_0002379 perineal muscle 'perineal muscle' SubClassOf 'muscle of pelvis' http://purl.obolibrary.org/obo/UBERON_0002375 cricoid cartilage 'cricoid cartilage' SubClassOf 'laryngeal cartilage' http://purl.obolibrary.org/obo/UBERON_0002380 trapezius muscle 'trapezius muscle' SubClassOf 'muscle of shoulder' http://purl.obolibrary.org/obo/UBERON_0002382 rectus abdominis muscle 'rectus abdominis muscle' SubClassOf 'anterior abdominal wall muscle' 'rectus abdominis muscle' SubClassOf 'axial muscle' http://purl.obolibrary.org/obo/UBERON_0002383 supraspinatus muscle 'supraspinatus muscle' SubClassOf 'scapular muscle' 'supraspinatus muscle' SubClassOf 'pectoral complex muscle' 'supraspinatus muscle' SubClassOf 'muscle of shoulder' http://purl.obolibrary.org/obo/UBERON_0002389 manual digit 'manual digit' SubClassOf 'digit' http://purl.obolibrary.org/obo/MONDO_0021416 polyp of gallbladder 'polyp of gallbladder' SubClassOf 'gallbladder neoplasm' 'polyp of gallbladder' SubClassOf 'polyp' http://purl.obolibrary.org/obo/MONDO_0021440 benign neoplasm of skin 'benign neoplasm of skin' SubClassOf 'skin neoplasm' 'benign neoplasm of skin' SubClassOf 'integumentary system benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0021460 benign neoplasm of salivary gland 'benign neoplasm of salivary gland' SubClassOf 'Mixed Tumor of the Salivary Gland' 'benign neoplasm of salivary gland' SubClassOf 'benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0021463 benign neoplasm of parathyroid gland 'benign neoplasm of parathyroid gland' SubClassOf 'benign endocrine neoplasm' 'benign neoplasm of parathyroid gland' SubClassOf 'tumor of parathyroid gland' http://purl.obolibrary.org/obo/MONDO_0021468 benign neoplasm of adrenal medulla 'benign neoplasm of adrenal medulla' SubClassOf 'benign neoplasm of adrenal gland' 'benign neoplasm of adrenal medulla' SubClassOf 'adrenal medulla neoplasm' http://purl.obolibrary.org/obo/MONDO_0021450 benign neoplasm of heart 'benign neoplasm of heart' SubClassOf 'thoracic benign neoplasm' 'benign neoplasm of heart' SubClassOf 'cardiovascular organ benign neoplasm' 'benign neoplasm of heart' SubClassOf 'Heart neoplasm' http://purl.obolibrary.org/obo/MONDO_0021451 benign neoplasm of brain 'benign neoplasm of brain' SubClassOf 'central nervous system organ benign neoplasm' 'benign neoplasm of brain' SubClassOf 'brain neoplasm' http://purl.obolibrary.org/obo/MONDO_0021452 benign neoplasm of cornea 'benign neoplasm of cornea' SubClassOf 'integumentary system benign neoplasm' 'benign neoplasm of cornea' SubClassOf 'cornea neoplasm' 'benign neoplasm of cornea' SubClassOf 'benign neoplasm of eye' http://purl.obolibrary.org/obo/MONDO_0021454 benign neoplasm of eye 'benign neoplasm of eye' SubClassOf 'sensory organ benign neoplasm' 'benign neoplasm of eye' SubClassOf 'eye neoplasm' http://purl.obolibrary.org/obo/MONDO_0021489 benign neoplasm of sweat gland 'benign neoplasm of sweat gland' SubClassOf 'sweat gland neoplasm' 'benign neoplasm of sweat gland' SubClassOf 'benign neoplasm of skin' http://purl.obolibrary.org/obo/MONDO_0021490 benign neoplasm of sebaceous gland 'benign neoplasm of sebaceous gland' SubClassOf 'benign neoplasm of skin' 'benign neoplasm of sebaceous gland' SubClassOf 'sebaceous gland neoplasm' http://purl.obolibrary.org/obo/UBERON_0004859 eye gland 'eye gland' SubClassOf 'gland' http://purl.obolibrary.org/obo/UBERON_0004852 cardiovascular system endothelium 'cardiovascular system endothelium' SubClassOf 'endothelium' http://purl.obolibrary.org/obo/UBERON_0004850 lymph node endothelium 'lymph node endothelium' SubClassOf 'endothelium' http://purl.obolibrary.org/obo/UBERON_0002209 fibrous joint 'fibrous joint' SubClassOf 'nonsynovial joint' http://purl.obolibrary.org/obo/UBERON_0002208 sternebra 'sternebra' SubClassOf 'thoracic segment bone' 'sternebra' SubClassOf 'endochondral bone' http://purl.obolibrary.org/obo/UBERON_0002201 vasculature of trunk 'vasculature of trunk' SubClassOf 'vasculature' http://purl.obolibrary.org/obo/UBERON_0004864 vasculature of retina 'vasculature of retina' SubClassOf 'vasculature of eye' 'vasculature of retina' SubClassOf 'vasculature of central nervous system plus retina' http://purl.obolibrary.org/obo/UBERON_0004866 actinopterygian frontal bone 'actinopterygian frontal bone' SubClassOf 'neurocranium bone' 'actinopterygian frontal bone' SubClassOf 'dermal bone' http://purl.obolibrary.org/obo/UBERON_0002204 musculoskeletal system 'musculoskeletal system' DisjointWith 'biliary system' 'musculoskeletal system' DisjointWith 'hematopoietic system' 'musculoskeletal system' DisjointWith 'integumental system' 'respiratory system' DisjointWith 'musculoskeletal system' 'musculoskeletal system' DisjointWith 'entire sense organ system' 'musculoskeletal system' DisjointWith 'immune system' 'reproductive system' DisjointWith 'musculoskeletal system' 'endocrine system' DisjointWith 'musculoskeletal system' 'nervous system' DisjointWith 'musculoskeletal system' 'circulatory system' DisjointWith 'musculoskeletal system' 'musculoskeletal system' DisjointWith 'hepatobiliary system' 'musculoskeletal system' SubClassOf 'anatomical system' 'renal system' DisjointWith 'musculoskeletal system' 'gustatory system' DisjointWith 'musculoskeletal system' 'musculoskeletal system' DisjointWith 'exocrine system' 'skeletal system' DisjointWith 'musculoskeletal system' 'digestive system' DisjointWith 'musculoskeletal system' http://purl.obolibrary.org/obo/UBERON_0004865 actinopterygian parietal bone 'actinopterygian parietal bone' SubClassOf 'intramembranous bone' 'actinopterygian parietal bone' SubClassOf 'dermal bone' 'actinopterygian parietal bone' SubClassOf 'neurocranium bone' http://purl.obolibrary.org/obo/UBERON_0004862 left lung alveolus 'left lung alveolus' SubClassOf 'alveolus of lung' http://purl.obolibrary.org/obo/UBERON_0004861 right lung alveolus 'right lung alveolus' SubClassOf 'alveolus of lung' http://purl.obolibrary.org/obo/UBERON_0002216 symphysis 'symphysis' SubClassOf 'cartilaginous joint' 'symphysis' SubClassOf 'fibrous joint' http://purl.obolibrary.org/obo/UBERON_0004879 marginal zone of embryo 'marginal zone of embryo' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0002217 synovial joint 'synovial joint' DisjointWith 'nonsynovial joint' 'synovial joint' SubClassOf 'skeletal joint' http://purl.obolibrary.org/obo/UBERON_0004878 distal visceral endoderm 'distal visceral endoderm' SubClassOf 'visceral endoderm' http://purl.obolibrary.org/obo/UBERON_0002218 tympanic ring 'tympanic ring' SubClassOf 'intramembranous bone' 'tympanic ring' SubClassOf 'head bone' http://purl.obolibrary.org/obo/UBERON_0004875 nephrogenic cord 'nephrogenic cord' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0002213 cartilaginous joint 'cartilaginous joint' SubClassOf 'nonsynovial joint' http://purl.obolibrary.org/obo/UBERON_0004874 somatopleure 'somatopleure' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0004877 visceral endoderm 'visceral endoderm' SubClassOf 'extraembryonic tissue' http://purl.obolibrary.org/obo/UBERON_0002215 synchondrosis 'synchondrosis' DisjointWith 'suture' 'synchondrosis' SubClassOf 'cartilaginous joint' 'synchondrosis' SubClassOf 'fibrous joint' http://purl.obolibrary.org/obo/UBERON_0004876 urogenital fold 'urogenital fold' SubClassOf 'presumptive structure' http://purl.obolibrary.org/obo/UBERON_0004871 somatic layer of lateral plate mesoderm 'somatic layer of lateral plate mesoderm' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0004870 superficial cervical lymph node 'superficial cervical lymph node' SubClassOf 'peripheral lymph node' 'superficial cervical lymph node' SubClassOf 'superficial lymph node' 'superficial cervical lymph node' SubClassOf 'cervical lymph node' http://purl.obolibrary.org/obo/UBERON_0002210 syndesmosis 'syndesmosis' SubClassOf 'cartilaginous joint' 'syndesmosis' SubClassOf 'fibrous joint' http://purl.obolibrary.org/obo/UBERON_0004873 splanchnopleure 'splanchnopleure' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0004872 splanchnic layer of lateral plate mesoderm 'splanchnic layer of lateral plate mesoderm' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0004889 lobar bronchus vasculature 'lobar bronchus vasculature' SubClassOf 'lung vasculature' http://purl.obolibrary.org/obo/UBERON_0002229 interparietal bone 'interparietal bone' SubClassOf 'neurocranium bone' 'interparietal bone' SubClassOf 'dermal bone' http://purl.obolibrary.org/obo/UBERON_0016853 interdigital gland 'interdigital gland' SubClassOf 'skin scent gland' http://purl.obolibrary.org/obo/UBERON_0016856 digit 6 'digit 6' SubClassOf 'digit' http://purl.obolibrary.org/obo/UBERON_0016852 skin scent gland 'skin scent gland' SubClassOf 'scent gland' 'skin scent gland' SubClassOf 'skin gland' 'skin scent gland' SubClassOf 'exocrine gland of integumental system' http://purl.obolibrary.org/obo/UBERON_0016857 digit 7 'digit 7' SubClassOf 'digit' http://purl.obolibrary.org/obo/UBERON_0016858 digit 8 'digit 8' SubClassOf 'digit' http://purl.obolibrary.org/obo/UBERON_0002223 endolymphatic sac 'endolymphatic sac' SubClassOf 'epithelial sac' 'endolymphatic sac' SubClassOf 'inner ear epithelium' http://purl.obolibrary.org/obo/UBERON_0004882 eponychium 'eponychium' SubClassOf 'ecto-epithelium' http://purl.obolibrary.org/obo/UBERON_0004817 lacrimal gland epithelium 'lacrimal gland epithelium' SubClassOf 'eye epithelium' http://purl.obolibrary.org/obo/UBERON_0004816 larynx epithelium 'larynx epithelium' SubClassOf 'respiratory tract epithelium' http://purl.obolibrary.org/obo/UBERON_0004819 kidney epithelium 'kidney epithelium' SubClassOf 'epithelium' http://purl.obolibrary.org/obo/UBERON_0004818 terminal bronchus epithelium 'terminal bronchus epithelium' SubClassOf 'epithelium of bronchus' http://purl.obolibrary.org/obo/UBERON_0004813 seminiferous tubule epithelium 'seminiferous tubule epithelium' SubClassOf 'epithelial layer of duct' 'seminiferous tubule epithelium' SubClassOf 'epithelium of male gonad' 'seminiferous tubule epithelium' SubClassOf 'mesothelium' http://purl.obolibrary.org/obo/UBERON_0004812 male prepuce epithelium 'male prepuce epithelium' SubClassOf 'penis epithelium' http://purl.obolibrary.org/obo/UBERON_0004815 lower respiratory tract epithelium 'lower respiratory tract epithelium' SubClassOf 'respiratory tract epithelium' http://purl.obolibrary.org/obo/UBERON_0004814 upper respiratory tract epithelium 'upper respiratory tract epithelium' SubClassOf 'respiratory tract epithelium' http://purl.obolibrary.org/obo/UBERON_0004811 endometrium epithelium 'endometrium epithelium' SubClassOf 'epithelium of mucosa' 'endometrium epithelium' SubClassOf 'uterine epithelium' http://purl.obolibrary.org/obo/UBERON_0004810 nephron tubule epithelium 'nephron tubule epithelium' SubClassOf 'nephron epithelium' http://purl.obolibrary.org/obo/UBERON_0004829 urethra skeletal muscle tissue 'urethra skeletal muscle tissue' SubClassOf 'skeletal muscle tissue' http://purl.obolibrary.org/obo/UBERON_0004823 intrahepatic bile duct epithelium 'intrahepatic bile duct epithelium' SubClassOf 'bile duct epithelium' http://purl.obolibrary.org/obo/UBERON_0004825 dental lamina 'dental lamina' SubClassOf 'epithelium' http://purl.obolibrary.org/obo/UBERON_0004820 bile duct epithelium 'bile duct epithelium' SubClassOf 'epithelial layer of duct' 'bile duct epithelium' SubClassOf 'epithelium of biliary system' 'bile duct epithelium' SubClassOf 'endo-epithelium' http://purl.obolibrary.org/obo/UBERON_0004822 extrahepatic bile duct epithelium 'extrahepatic bile duct epithelium' SubClassOf 'bile duct epithelium' http://purl.obolibrary.org/obo/UBERON_0004821 pulmonary alveolus epithelium 'pulmonary alveolus epithelium' SubClassOf 'lung epithelium' 'pulmonary alveolus epithelium' SubClassOf 'simple squamous epithelium' http://purl.obolibrary.org/obo/UBERON_0004835 epididymis smooth muscle 'epididymis smooth muscle' SubClassOf 'smooth muscle tissue' http://purl.obolibrary.org/obo/UBERON_0004834 hepatic duct smooth muscle 'hepatic duct smooth muscle' SubClassOf 'smooth muscle tissue' http://purl.obolibrary.org/obo/UBERON_0004831 esophagus skeletal muscle 'esophagus skeletal muscle' SubClassOf 'skeletal muscle tissue of trunk' http://purl.obolibrary.org/obo/UBERON_0004830 respiratory system skeletal muscle 'respiratory system skeletal muscle' SubClassOf 'skeletal muscle tissue' http://purl.obolibrary.org/obo/UBERON_0004833 lip skeletal muscle 'lip skeletal muscle' SubClassOf 'skeletal muscle tissue' http://purl.obolibrary.org/obo/UBERON_0004832 anal region skeletal muscle 'anal region skeletal muscle' SubClassOf 'skeletal muscle tissue' http://purl.obolibrary.org/obo/UBERON_0004849 respiratory system venous endothelium 'respiratory system venous endothelium' SubClassOf 'endothelium of vein' 'respiratory system venous endothelium' SubClassOf 'respiratory system blood vessel endothelium' http://purl.obolibrary.org/obo/UBERON_0004848 respiratory system arterial endothelium 'respiratory system arterial endothelium' SubClassOf 'respiratory system blood vessel endothelium' 'respiratory system arterial endothelium' SubClassOf 'endothelium of artery' http://purl.obolibrary.org/obo/UBERON_0002270 hyaloid artery 'hyaloid artery' SubClassOf 'hyaloid vessel' 'hyaloid artery' SubClassOf 'brain blood vessel' http://purl.obolibrary.org/obo/UBERON_0002284 hyponychium 'hyponychium' SubClassOf 'stratum corneum of epidermis' http://purl.obolibrary.org/obo/UBERON_0002286 third ventricle 'third ventricle' SubClassOf 'brain ventricle' http://purl.obolibrary.org/obo/UBERON_0002288 choroid plexus of third ventricle 'choroid plexus of third ventricle' SubClassOf 'choroid plexus' http://purl.obolibrary.org/obo/UBERON_0002292 costovertebral joint 'costovertebral joint' SubClassOf 'synovial joint' 'costovertebral joint' SubClassOf 'joint of rib' http://purl.obolibrary.org/obo/UBERON_0002293 costochondral joint 'costochondral joint' SubClassOf 'synchondrosis' 'costochondral joint' SubClassOf 'joint of rib' http://purl.obolibrary.org/obo/UBERON_0002290 choroid plexus of fourth ventricle 'choroid plexus of fourth ventricle' SubClassOf 'choroid plexus' 'choroid plexus of fourth ventricle' SubClassOf 'cerebellum vasculature' http://purl.obolibrary.org/obo/UBERON_0002296 dorsal mesentery 'dorsal mesentery' SubClassOf 'presumptive structure' http://purl.obolibrary.org/obo/UBERON_0002297 cerumen 'cerumen' SubClassOf 'sweat' http://purl.obolibrary.org/obo/UBERON_0016880 future nervous system 'future nervous system' SubClassOf 'presumptive structure' http://purl.obolibrary.org/obo/UBERON_0002238 false rib 'true rib' DisjointWith 'false rib' 'false rib' SubClassOf 'rib' http://purl.obolibrary.org/obo/UBERON_0002239 floating rib 'floating rib' SubClassOf 'false rib' http://purl.obolibrary.org/obo/UBERON_0016882 intertarsal-type crurotarsal joint 'intertarsal-type crurotarsal joint' SubClassOf 'ankle joint' http://purl.obolibrary.org/obo/UBERON_0016884 shoulder joint 'shoulder joint' SubClassOf 'skeletal joint' http://purl.obolibrary.org/obo/UBERON_0016885 epithelium of terminal part of digestive tract 'epithelium of terminal part of digestive tract' SubClassOf 'digestive tract epithelium' http://purl.obolibrary.org/obo/UBERON_0002234 proximal phalanx of manus 'proximal phalanx of manus' SubClassOf 'phalanx of manus' 'proximal phalanx of manus' SubClassOf 'proximal phalanx' http://purl.obolibrary.org/obo/UBERON_0004896 right lung accessory lobe lobar bronchus 'right lung accessory lobe lobar bronchus' SubClassOf 'lobar bronchus of right lung' http://purl.obolibrary.org/obo/UBERON_0002237 true rib 'true rib' SubClassOf 'rib' 'true rib' DisjointWith 'false rib' http://purl.obolibrary.org/obo/UBERON_0004892 lobar bronchus alveolar system 'lobar bronchus alveolar system' SubClassOf 'anatomical system' http://purl.obolibrary.org/obo/UBERON_0002232 olfactory gland 'olfactory gland' SubClassOf 'gland of nasal mucosa' http://purl.obolibrary.org/obo/UBERON_0004895 alveolar smooth muscle 'alveolar smooth muscle' SubClassOf 'lower respiratory tract smooth muscle' http://purl.obolibrary.org/obo/UBERON_0002249 median artery 'median artery' SubClassOf 'lower arm blood vessel' 'median artery' SubClassOf 'artery' http://purl.obolibrary.org/obo/UBERON_0016879 future central nervous system 'future central nervous system' SubClassOf 'presumptive structure' http://purl.obolibrary.org/obo/UBERON_0002243 cutaneous vein 'cutaneous vein' SubClassOf 'vein' http://purl.obolibrary.org/obo/UBERON_0002244 premaxilla 'premaxilla' SubClassOf 'bone of upper jaw' 'premaxilla' SubClassOf 'dermal bone' 'premaxilla' SubClassOf 'intramembranous bone' http://purl.obolibrary.org/obo/UBERON_0002251 iliocostalis muscle 'iliocostalis muscle' SubClassOf 'axial muscle' 'iliocostalis muscle' SubClassOf 'muscle of vertebral column' http://purl.obolibrary.org/obo/UBERON_0002252 splenius 'splenius' SubClassOf 'muscle of back' 'splenius' SubClassOf 'muscle of vertebral column' http://purl.obolibrary.org/obo/UBERON_0016890 intrahepatic branch of portal vein 'intrahepatic branch of portal vein' SubClassOf 'liver blood vessel' 'intrahepatic branch of portal vein' SubClassOf 'vein of abdomen' http://purl.obolibrary.org/obo/MONDO_0008315 prostate cancer 'prostate cancer' SubClassOf 'male reproductive organ cancer' 'prostate cancer' SubClassOf 'prostate neoplasm' http://purl.obolibrary.org/obo/UBERON_0002262 celiac ganglion 'celiac ganglion' SubClassOf 'prevertebral ganglion' http://purl.obolibrary.org/obo/MONDO_0011962 endometrial cancer 'endometrial cancer' SubClassOf 'endometrium neoplasm' 'endometrial cancer' SubClassOf 'uterine cancer' http://purl.obolibrary.org/obo/MONDO_0021303 adenoma of small intestine 'adenoma of small intestine' SubClassOf 'small intestine neoplasm' 'adenoma of small intestine' SubClassOf 'Digestive System Adenoma' http://purl.obolibrary.org/obo/UBERON_2002291 fulcrum 'fulcrum' SubClassOf 'fin bone' 'fulcrum' SubClassOf 'dermal bone' http://purl.obolibrary.org/obo/UBERON_2002293 hypaxial basal fulcrum 'hypaxial basal fulcrum' SubClassOf 'basal fulcrum' http://purl.obolibrary.org/obo/UBERON_2002292 epaxial basal fulcrum 'epaxial basal fulcrum' SubClassOf 'basal fulcrum' http://purl.obolibrary.org/obo/UBERON_2002294 fish scute 'fish scute' SubClassOf 'dermal bone' http://purl.obolibrary.org/obo/MONDO_0021320 malignant tumor of floor of mouth 'malignant tumor of floor of mouth' SubClassOf 'head and neck malignant neoplasia' 'malignant tumor of floor of mouth' SubClassOf 'neoplasm of floor of mouth' 'malignant tumor of floor of mouth' SubClassOf 'digestive system cancer' http://purl.obolibrary.org/obo/MONDO_0021321 malignant tumor of extrahepatic bile duct 'malignant tumor of extrahepatic bile duct' SubClassOf 'extrahepatic bile duct neoplasm' 'malignant tumor of extrahepatic bile duct' SubClassOf 'bile duct cancer' http://purl.obolibrary.org/obo/UBERON_2002280 pectoral fin distal radial bone 3 'pectoral fin distal radial bone 3' SubClassOf 'pectoral fin distal radial bone' http://purl.obolibrary.org/obo/UBERON_2002282 preopercle-opercle joint 'preopercle-opercle joint' SubClassOf 'skeletal joint' http://purl.obolibrary.org/obo/UBERON_2002281 retractor posttemporalis 'retractor posttemporalis' SubClassOf 'cranial muscle' http://purl.obolibrary.org/obo/UBERON_2002285 cycloid scale 'cycloid scale' SubClassOf 'dermal scale' http://purl.obolibrary.org/obo/MONDO_0021310 malignant tumor of neck 'malignant tumor of neck' SubClassOf 'head and neck malignant neoplasia' 'malignant tumor of neck' SubClassOf 'neoplasm of neck' http://purl.obolibrary.org/obo/MONDO_0021311 malignant tumor of parathyroid gland 'malignant tumor of parathyroid gland' SubClassOf 'malignant endocrine neoplasm' 'malignant tumor of parathyroid gland' SubClassOf 'tumor of parathyroid gland' http://purl.obolibrary.org/obo/MONDO_0021312 malignant tumor of adrenal cortex 'malignant tumor of adrenal cortex' SubClassOf 'adrenal cortex neoplasm' 'malignant tumor of adrenal cortex' SubClassOf 'adrenal gland cancer' http://purl.obolibrary.org/obo/UBERON_2002271 ventral caudal procurrent ray 2 'ventral caudal procurrent ray 2' SubClassOf 'caudal fin ventral procurrent ray' http://purl.obolibrary.org/obo/MONDO_0021313 eyelid cancer 'eyelid cancer' SubClassOf 'skin carcinoma' 'eyelid cancer' SubClassOf 'eyelid neoplasm' 'eyelid cancer' SubClassOf 'ocular cancer' http://purl.obolibrary.org/obo/UBERON_2002270 pelvic fin spine 'pelvic fin spine' SubClassOf 'pelvic fin lepidotrichium' 'pelvic fin spine' SubClassOf 'paired fin spine' http://purl.obolibrary.org/obo/UBERON_2002273 ctenoid scale 'ctenoid scale' SubClassOf 'dermal scale' http://purl.obolibrary.org/obo/UBERON_2002272 ventral caudal procurrent ray 1 'ventral caudal procurrent ray 1' SubClassOf 'caudal fin ventral procurrent ray' http://purl.obolibrary.org/obo/UBERON_2002275 Jakubowski's organ 'Jakubowski's organ' SubClassOf 'neuromast' http://purl.obolibrary.org/obo/UBERON_2002274 transforming ctenoid scale 'transforming ctenoid scale' SubClassOf 'ctenoid scale' http://purl.obolibrary.org/obo/UBERON_2002277 pectoral fin distal radial bone 1 'pectoral fin distal radial bone 1' SubClassOf 'pectoral fin distal radial bone' http://purl.obolibrary.org/obo/UBERON_2002279 pectoral fin distal radial bone 2 'pectoral fin distal radial bone 2' SubClassOf 'pectoral fin distal radial bone' http://purl.obolibrary.org/obo/MONDO_0021316 malignant tumor of minor salivary gland 'malignant tumor of minor salivary gland' SubClassOf 'salivary gland cancer' 'malignant tumor of minor salivary gland' SubClassOf 'neoplasm of minor salivary gland' 'malignant tumor of minor salivary gland' SubClassOf 'vestibule of mouth cancer' http://purl.obolibrary.org/obo/MONDO_0021343 carcinoma of floor of mouth 'carcinoma of floor of mouth' SubClassOf 'malignant tumor of floor of mouth' 'carcinoma of floor of mouth' SubClassOf 'head and neck carcinoma' 'carcinoma of floor of mouth' SubClassOf 'Digestive System Carcinoma' http://purl.obolibrary.org/obo/MONDO_0021345 carcinoma of pharynx 'carcinoma of pharynx' SubClassOf 'pharynx neoplasm' 'carcinoma of pharynx' SubClassOf 'Digestive System Carcinoma' http://purl.obolibrary.org/obo/MONDO_0021348 neoplasm of testis 'neoplasm of testis' SubClassOf 'testicular disease' 'neoplasm of testis' SubClassOf 'male reproductive system neoplasm' 'neoplasm of testis' SubClassOf 'endocrine neoplasm' http://purl.obolibrary.org/obo/MONDO_0021331 carcinoma of parotid gland 'carcinoma of parotid gland' SubClassOf 'parotid gland cancer' 'carcinoma of parotid gland' SubClassOf 'Major Salivary Gland Carcinoma' http://purl.obolibrary.org/obo/MONDO_0021335 carcinoma of duodenum 'carcinoma of duodenum' SubClassOf 'small intestine carcinoma' 'carcinoma of duodenum' SubClassOf 'duodenum cancer' http://purl.obolibrary.org/obo/MONDO_0021337 tonsil carcinoma 'tonsil carcinoma' SubClassOf 'oropharyngeal carcinoma' 'tonsil carcinoma' SubClassOf 'tonsil cancer' http://purl.obolibrary.org/obo/MONDO_0021364 neoplasm of oropharynx 'neoplasm of oropharynx' SubClassOf 'pharynx neoplasm' 'neoplasm of oropharynx' SubClassOf 'respiratory system neoplasm' 'neoplasm of oropharynx' SubClassOf 'disease of pharynx' 'neoplasm of oropharynx' SubClassOf 'head and neck neoplasia' http://purl.obolibrary.org/obo/MONDO_0021366 neoplasm of middle ear 'neoplasm of middle ear' SubClassOf 'ear neoplasm' 'neoplasm of middle ear' SubClassOf 'middle ear disease' http://purl.obolibrary.org/obo/MONDO_0021368 neoplasm of major salivary gland 'neoplasm of major salivary gland' SubClassOf 'Mixed Tumor of the Salivary Gland' http://purl.obolibrary.org/obo/MONDO_0021360 tumor of parathyroid gland 'tumor of parathyroid gland' SubClassOf 'endocrine gland neoplasm' 'tumor of parathyroid gland' SubClassOf 'parathyroid disease' http://purl.obolibrary.org/obo/MONDO_0021350 neoplasm of thorax 'neoplasm of thorax' SubClassOf 'thoracic disease' 'neoplasm of thorax' SubClassOf 'neoplasm' http://purl.obolibrary.org/obo/MONDO_0021351 neoplasm of neck 'neoplasm of neck' SubClassOf 'head and neck neoplasia' http://purl.obolibrary.org/obo/MONDO_0021353 tumor of uterus 'tumor of uterus' SubClassOf 'female reproductive system neoplasm' 'tumor of uterus' SubClassOf 'uterine disease' http://purl.obolibrary.org/obo/MONDO_0021354 tumor of adipose tissue 'tumor of adipose tissue' SubClassOf 'mesenchymal cell neoplasm' 'tumor of adipose tissue' SubClassOf 'connective tissue neoplasm' http://purl.obolibrary.org/obo/MONDO_0021355 neoplasm of esophagus 'neoplasm of esophagus' SubClassOf 'digestive system neoplasm' 'neoplasm of esophagus' SubClassOf 'esophageal disease' 'neoplasm of esophagus' SubClassOf 'neoplasm of thorax' http://purl.obolibrary.org/obo/MONDO_0021358 neoplasm of hypopharynx 'neoplasm of hypopharynx' SubClassOf 'head and neck neoplasia' 'neoplasm of hypopharynx' SubClassOf 'disease of pharynx' 'neoplasm of hypopharynx' SubClassOf 'respiratory system neoplasm' 'neoplasm of hypopharynx' SubClassOf 'pharynx neoplasm' http://purl.obolibrary.org/obo/MONDO_0021383 neoplasm of floor of mouth 'neoplasm of floor of mouth' SubClassOf 'mouth disease' 'neoplasm of floor of mouth' SubClassOf 'digestive system neoplasm' 'neoplasm of floor of mouth' SubClassOf 'head and neck neoplasia' 'neoplasm of floor of mouth' SubClassOf 'mouth neoplasm' http://purl.obolibrary.org/obo/MONDO_0021385 extrahepatic bile duct neoplasm 'extrahepatic bile duct neoplasm' SubClassOf 'bile duct neoplasm' http://purl.obolibrary.org/obo/MONDO_0021386 neoplasm of mediastinum 'neoplasm of mediastinum' SubClassOf 'neoplasm of thorax' 'neoplasm of mediastinum' SubClassOf 'mediastinal disease' http://purl.obolibrary.org/obo/MONDO_0021375 tumor of duodenum 'tumor of duodenum' SubClassOf 'small intestine neoplasm' 'tumor of duodenum' SubClassOf 'duodenal disease' http://purl.obolibrary.org/obo/UBERON_0004902 urogenital sinus epithelium 'urogenital sinus epithelium' SubClassOf 'embryonic cloacal epithelium' 'urogenital sinus epithelium' SubClassOf 'meso-epithelium' http://purl.obolibrary.org/obo/UBERON_0004909 epithelium of gonad 'epithelium of gonad' SubClassOf 'epithelium' http://purl.obolibrary.org/obo/MONDO_0021370 neoplasm of minor salivary gland 'neoplasm of minor salivary gland' SubClassOf 'mouth mucosa disease' 'neoplasm of minor salivary gland' SubClassOf 'Mixed Tumor of the Salivary Gland' http://purl.obolibrary.org/obo/UBERON_0004912 biliary bud 'biliary bud' SubClassOf 'epithelial sac' 'biliary bud' SubClassOf 'epithelium of foregut-midgut junction' http://purl.obolibrary.org/obo/UBERON_0004911 epithelium of female gonad 'epithelium of female gonad' SubClassOf 'epithelium of gonad' http://purl.obolibrary.org/obo/UBERON_0004913 hepatopancreatic ampulla 'hepatopancreatic ampulla' SubClassOf 'bile duct' http://purl.obolibrary.org/obo/UBERON_0004910 epithelium of male gonad 'epithelium of male gonad' SubClassOf 'epithelium of gonad' http://purl.obolibrary.org/obo/MONDO_0021396 polyp of vulva 'polyp of vulva' SubClassOf 'polyp' 'polyp of vulva' SubClassOf 'vulvar neoplasm' http://purl.obolibrary.org/obo/MONDO_0021398 polyp of rectum 'polyp of rectum' SubClassOf 'polyp of large intestine' 'polyp of rectum' SubClassOf 'rectal neoplasm' http://purl.obolibrary.org/obo/MONDO_0021392 polyp of large intestine 'polyp of large intestine' SubClassOf 'large intestine disease' 'polyp of large intestine' SubClassOf 'intestinal neoplasm' 'polyp of large intestine' SubClassOf 'polyp' http://purl.obolibrary.org/obo/UBERON_0004739 pronephric glomerulus 'pronephric glomerulus' SubClassOf 'renal glomerulus' http://purl.obolibrary.org/obo/UBERON_0004736 metanephric glomerulus 'metanephric glomerulus' SubClassOf 'renal glomerulus' http://purl.obolibrary.org/obo/UBERON_0004735 archenteron 'archenteron' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0004734 gastrula 'gastrula' SubClassOf 'embryo' http://purl.obolibrary.org/obo/UBERON_0004730 instar larval stage 'instar larval stage' SubClassOf 'larval stage' http://purl.obolibrary.org/obo/UBERON_0004747 supraoccipital bone 'supraoccipital bone' SubClassOf 'endochondral bone' 'supraoccipital bone' SubClassOf 'neurocranium bone' http://purl.obolibrary.org/obo/UBERON_0004749 blastodisc 'blastodisc' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0004743 coracoid bone 'coracoid bone' SubClassOf 'pectoral girdle bone' 'coracoid bone' SubClassOf 'endochondral bone' http://purl.obolibrary.org/obo/UBERON_0004745 parasphenoid 'parasphenoid' SubClassOf 'neurocranium bone' 'parasphenoid' SubClassOf 'palate bone' 'parasphenoid' SubClassOf 'intramembranous bone' http://purl.obolibrary.org/obo/UBERON_0004758 salt gland 'salt gland' SubClassOf 'gland' http://purl.obolibrary.org/obo/UBERON_0004757 rectal salt gland 'rectal salt gland' SubClassOf 'salt gland' 'rectal salt gland' SubClassOf 'gland of digestive tract' http://purl.obolibrary.org/obo/UBERON_0004759 cranial salt gland 'cranial salt gland' SubClassOf 'salt gland' http://purl.obolibrary.org/obo/UBERON_0004750 blastoderm 'blastoderm' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0004752 palatoquadrate cartilage 'palatoquadrate cartilage' SubClassOf 'pharyngeal arch cartilage' http://purl.obolibrary.org/obo/UBERON_0004751 hypohyal bone 'hypohyal bone' SubClassOf 'endochondral bone' http://purl.obolibrary.org/obo/UBERON_0004768 bone of lower jaw 'bone of lower jaw' SubClassOf 'bone of jaw' http://purl.obolibrary.org/obo/UBERON_0002104 visual system 'visual system' SubClassOf 'sensory system' http://purl.obolibrary.org/obo/UBERON_0004767 vomerine tooth 'vomerine tooth' SubClassOf 'palatal tooth' http://purl.obolibrary.org/obo/UBERON_0002105 vestibulo-auditory system 'vestibulo-auditory system' SubClassOf 'sensory system' http://purl.obolibrary.org/obo/UBERON_0004766 cranial bone 'cranial bone' SubClassOf 'head bone' http://purl.obolibrary.org/obo/UBERON_0004760 gland of anal canal 'gland of anal canal' SubClassOf 'gland of digestive tract' http://purl.obolibrary.org/obo/UBERON_0004706 bulbus cordis 'bulbus cordis' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0004709 pelvic appendage 'pelvic appendage' DisjointWith 'pectoral appendage' 'pelvic appendage' SubClassOf 'paired limb/fin' http://purl.obolibrary.org/obo/UBERON_0004708 paired limb/fin 'paired limb/fin' SubClassOf 'appendage' http://purl.obolibrary.org/obo/UBERON_0004702 respiratory system blood vessel endothelium 'respiratory system blood vessel endothelium' SubClassOf 'blood vessel endothelium' 'respiratory system blood vessel endothelium' SubClassOf 'respiratory system epithelium' http://purl.obolibrary.org/obo/UBERON_0004701 venous system endothelium 'venous system endothelium' SubClassOf 'cardiovascular system endothelium' http://purl.obolibrary.org/obo/UBERON_0004700 arterial system endothelium 'arterial system endothelium' SubClassOf 'cardiovascular system endothelium' http://purl.obolibrary.org/obo/UBERON_0004719 kidney arcuate vein 'kidney arcuate vein' SubClassOf 'renal venous blood vessel' 'kidney arcuate vein' SubClassOf 'vein of abdomen' http://purl.obolibrary.org/obo/UBERON_0004710 pectoral appendage 'pelvic appendage' DisjointWith 'pectoral appendage' 'pectoral appendage' SubClassOf 'paired limb/fin' http://purl.obolibrary.org/obo/UBERON_0004711 jugular vein 'jugular vein' SubClassOf 'neck blood vessel' 'jugular vein' SubClassOf 'craniocervical region vein' http://purl.obolibrary.org/obo/UBERON_0004729 nematode larval stage 'nematode larval stage' SubClassOf 'larval stage' http://purl.obolibrary.org/obo/UBERON_0004728 amphibian larval stage 'amphibian larval stage' SubClassOf 'larval stage' http://purl.obolibrary.org/obo/UBERON_0004724 medial palpebral ligament 'medial palpebral ligament' SubClassOf 'ligament' http://purl.obolibrary.org/obo/UBERON_0004727 cochlear nerve 'cochlear nerve' SubClassOf 'nerve of head region' http://purl.obolibrary.org/obo/UBERON_0004726 vasa recta 'vasa recta' SubClassOf 'renal vein' http://purl.obolibrary.org/obo/UBERON_0004723 interlobular artery 'interlobular artery' SubClassOf 'kidney arterial blood vessel' 'interlobular artery' DisjointWith 'interlobar artery' http://purl.obolibrary.org/obo/UBERON_0004722 deep cervical lymph node 'deep cervical lymph node' SubClassOf 'cervical lymph node' 'deep cervical lymph node' SubClassOf 'deep lymph node' http://purl.obolibrary.org/obo/UBERON_2002214 os suspensorium medial flange 'os suspensorium medial flange' SubClassOf 'endochondral bone' http://purl.obolibrary.org/obo/UBERON_2002217 parasphenoid-pterosphenoid joint 'parasphenoid-pterosphenoid joint' SubClassOf 'skeletal joint' http://purl.obolibrary.org/obo/UBERON_0002168 left lung 'left lung' SubClassOf 'lung' http://purl.obolibrary.org/obo/UBERON_0002169 alveolar sac 'alveolar sac' SubClassOf 'epithelial sac' 'alveolar sac' SubClassOf 'lung epithelium' http://purl.obolibrary.org/obo/UBERON_0002166 endocardium of atrium 'endocardium of atrium' SubClassOf 'endocardium' http://purl.obolibrary.org/obo/UBERON_0002167 right lung 'right lung' SubClassOf 'lung' http://purl.obolibrary.org/obo/UBERON_2002200 hypobranchial muscle 'hypobranchial muscle' SubClassOf 'cranial muscle' http://purl.obolibrary.org/obo/UBERON_2002206 macula communis 'macula communis' SubClassOf 'inner ear epithelium' http://purl.obolibrary.org/obo/UBERON_0002177 right main bronchus 'right main bronchus' SubClassOf 'main bronchus' http://purl.obolibrary.org/obo/UBERON_0002178 left main bronchus 'left main bronchus' SubClassOf 'main bronchus' http://purl.obolibrary.org/obo/UBERON_0002183 lobar bronchus 'lobar bronchus' SubClassOf 'intrapulmonary bronchus' http://purl.obolibrary.org/obo/UBERON_0002184 segmental bronchus 'segmental bronchus' SubClassOf 'intrapulmonary bronchus' http://purl.obolibrary.org/obo/UBERON_0002187 terminal bronchiole 'terminal bronchiole' SubClassOf 'bronchiole' http://purl.obolibrary.org/obo/UBERON_0002188 respiratory bronchiole 'respiratory bronchiole' SubClassOf 'bronchiole' http://purl.obolibrary.org/obo/UBERON_0002189 outer cortex of kidney 'outer cortex of kidney' SubClassOf 'cortex of kidney' http://purl.obolibrary.org/obo/UBERON_0002118 right ovary 'right ovary' SubClassOf 'female gonad' http://purl.obolibrary.org/obo/UBERON_0002119 left ovary 'left ovary' SubClassOf 'female gonad' http://purl.obolibrary.org/obo/UBERON_2002260 premaxillary-maxillary joint 'premaxillary-maxillary joint' SubClassOf 'inter-premaxillary joint' http://purl.obolibrary.org/obo/UBERON_2002262 anal fin spine 'anal fin spine' SubClassOf 'median fin spine' 'anal fin spine' SubClassOf 'anal fin lepidotrichium' http://purl.obolibrary.org/obo/UBERON_2002261 dorsal fin spine 'dorsal fin spine' SubClassOf 'dorsal fin lepidotrichium' 'dorsal fin spine' SubClassOf 'median fin spine' http://purl.obolibrary.org/obo/UBERON_2002264 epineural 2 'epineural 2' SubClassOf 'epineural' http://purl.obolibrary.org/obo/UBERON_2002263 epineural 1 'epineural 1' SubClassOf 'epineural' http://purl.obolibrary.org/obo/UBERON_2002266 epineural 4 'epineural 4' SubClassOf 'epineural' http://purl.obolibrary.org/obo/UBERON_2002265 epineural 3 'epineural 3' SubClassOf 'epineural' http://purl.obolibrary.org/obo/UBERON_2002268 epineural 6 'epineural 6' SubClassOf 'epineural' http://purl.obolibrary.org/obo/UBERON_2002267 epineural 5 'epineural 5' SubClassOf 'epineural' http://purl.obolibrary.org/obo/UBERON_2002269 interarcual cartilage 'interarcual cartilage' SubClassOf 'pharyngeal arch cartilage' http://purl.obolibrary.org/obo/UBERON_0004776 inner renal medulla vasa recta 'inner renal medulla vasa recta' SubClassOf 'vein of abdomen' 'inner renal medulla vasa recta' SubClassOf 'renal venous blood vessel' 'inner renal medulla vasa recta' SubClassOf 'vasa recta' http://purl.obolibrary.org/obo/UBERON_0004775 outer renal medulla vasa recta 'outer renal medulla vasa recta' SubClassOf 'renal venous blood vessel' 'outer renal medulla vasa recta' SubClassOf 'vasa recta' 'outer renal medulla vasa recta' SubClassOf 'vein of abdomen' http://purl.obolibrary.org/obo/UBERON_0002111 artery smooth muscle tissue 'artery smooth muscle tissue' SubClassOf 'blood vessel smooth muscle' 'artery smooth muscle tissue' SubClassOf 'arterial system smooth muscle' http://purl.obolibrary.org/obo/UBERON_2002258 trituration tooth 'trituration tooth' SubClassOf 'tooth' http://purl.obolibrary.org/obo/UBERON_0004787 urethra urothelium 'urethra urothelium' SubClassOf 'urothelium' 'urethra urothelium' SubClassOf 'epithelium of urethra' http://purl.obolibrary.org/obo/UBERON_0004786 gastrointestinal system mucosa 'gastrointestinal system mucosa' SubClassOf 'mucosa' http://purl.obolibrary.org/obo/UBERON_0004789 larynx mucous gland 'larynx mucous gland' SubClassOf 'mucous gland' 'larynx mucous gland' SubClassOf 'respiratory system gland' http://purl.obolibrary.org/obo/UBERON_0004788 kidney pelvis urothelium 'kidney pelvis urothelium' SubClassOf 'kidney epithelium' 'kidney pelvis urothelium' SubClassOf 'urothelium' http://purl.obolibrary.org/obo/UBERON_0004785 respiratory system mucosa 'respiratory system mucosa' SubClassOf 'mucosa' http://purl.obolibrary.org/obo/UBERON_0002139 subcommissural organ 'subcommissural organ' SubClassOf 'secretory circumventricular organ' http://purl.obolibrary.org/obo/UBERON_2002242 scale primordium 'scale primordium' SubClassOf 'primordium' http://purl.obolibrary.org/obo/UBERON_0004790 skin mucous gland 'skin mucous gland' SubClassOf 'exocrine gland of integumental system' 'skin mucous gland' SubClassOf 'mucous gland' 'skin mucous gland' SubClassOf 'epidermis gland' http://purl.obolibrary.org/obo/UBERON_0004796 prostate gland secretion 'prostate gland secretion' SubClassOf 'seminal fluid' http://purl.obolibrary.org/obo/UBERON_2002235 presumptive ventral mesoderm 'presumptive ventral mesoderm' SubClassOf 'presumptive mesoderm' http://purl.obolibrary.org/obo/MONDO_0011842 Grn-related frontotemporal lobar degeneration with Tdp43 inclusions 'Grn-related frontotemporal lobar degeneration with Tdp43 inclusions' SubClassOf 'Frontotemporal dementia' 'Grn-related frontotemporal lobar degeneration with Tdp43 inclusions' SubClassOf 'Primary progressive aphasia' http://purl.obolibrary.org/obo/UBERON_2002172 branchial mesenchyme 'branchial mesenchyme' SubClassOf 'head mesenchyme' http://purl.obolibrary.org/obo/MONDO_0021201 skin infection 'skin infection' SubClassOf 'dermatitis' 'skin infection' SubClassOf 'skin disease caused by infection' http://purl.obolibrary.org/obo/MONDO_0023865 corneal infection 'corneal infection' SubClassOf 'keratitis' 'corneal infection' SubClassOf 'endophthalmitis' http://purl.obolibrary.org/obo/UBERON_2002161 ural centrum 4 'ural centrum 4' SubClassOf 'ural centrum' http://purl.obolibrary.org/obo/UBERON_2002160 ural centrum 3 'ural centrum 3' SubClassOf 'ural centrum' http://purl.obolibrary.org/obo/UBERON_2002163 ural vertebra 1 'ural vertebra 1' SubClassOf 'ural vertebra' http://purl.obolibrary.org/obo/UBERON_2002162 ural vertebra 'ural vertebra' SubClassOf 'caudal vertebra' 'ural vertebra' SubClassOf 'fin bone' http://purl.obolibrary.org/obo/UBERON_2002167 stegural 'stegural' SubClassOf 'uroneural' http://purl.obolibrary.org/obo/UBERON_2002168 preural centrum 1 + ural centrum 1 + ural centrum 2 'preural centrum 1 + ural centrum 1 + ural centrum 2' SubClassOf 'urostyle' http://purl.obolibrary.org/obo/MONDO_0021204 chronic otitis media 'chronic otitis media' SubClassOf 'Otitis media' http://purl.obolibrary.org/obo/MONDO_0021205 disease of ear 'disease of ear' SubClassOf 'head disease' 'disease of ear' SubClassOf 'otorhinolaryngologic disease' 'disease of ear' SubClassOf 'sensory system disease' http://purl.obolibrary.org/obo/MONDO_0021206 chronic non-suppurative otitis media 'chronic non-suppurative otitis media' SubClassOf 'chronic otitis media' 'chronic non-suppurative otitis media' SubClassOf 'non-suppurative otitis media' http://purl.obolibrary.org/obo/MONDO_0023868 melanoma associated retinopathy 'melanoma associated retinopathy' SubClassOf 'cancer-associated retinopathy' 'melanoma associated retinopathy' EquivalentTo 'retinopathy' and ('disease arises from feature' some 'melanoma') 'melanoma associated retinopathy' SubClassOf 'has modifier' some 'rare' 'melanoma associated retinopathy' SubClassOf 'disease arises from feature' some 'melanoma' http://purl.obolibrary.org/obo/MONDO_0021208 endocrine alopecia 'endocrine alopecia' SubClassOf 'Alopecia' 'endocrine alopecia' SubClassOf 'disease of signal transduction' 'endocrine alopecia' SubClassOf 'genetic alopecia' http://purl.obolibrary.org/obo/UBERON_2002159 caudal basal fulcrum 'caudal basal fulcrum' SubClassOf 'basal fulcrum' http://purl.obolibrary.org/obo/MONDO_0021222 lacrimal gland neoplasm 'lacrimal gland neoplasm' SubClassOf 'disorder of lacrimal gland' 'lacrimal gland neoplasm' SubClassOf 'eye neoplasm' http://purl.obolibrary.org/obo/MONDO_0021225 uvea neoplasm 'uvea neoplasm' SubClassOf 'uveal disease' 'uvea neoplasm' SubClassOf 'eye neoplasm' http://purl.obolibrary.org/obo/UBERON_0002193 hemolymphoid system 'hemolymphoid system' SubClassOf 'anatomical system' http://purl.obolibrary.org/obo/UBERON_1000021 skin of face 'skin of face' SubClassOf 'skin of head' http://purl.obolibrary.org/obo/UBERON_1000022 Zymbal's gland 'Zymbal's gland' SubClassOf 'modified sebaceous gland' http://purl.obolibrary.org/obo/MONDO_0021228 brainstem neoplasm 'brainstem neoplasm' SubClassOf 'brain neoplasm' http://purl.obolibrary.org/obo/UBERON_0002197 median eminence of neurohypophysis 'median eminence of neurohypophysis' SubClassOf 'gland of diencephalon' 'median eminence of neurohypophysis' SubClassOf 'secretory circumventricular organ' http://purl.obolibrary.org/obo/UBERON_1000015 skin of snout 'skin of snout' SubClassOf 'skin of face' http://purl.obolibrary.org/obo/MONDO_0021218 placenta neoplasm 'placenta neoplasm' SubClassOf 'tumor of uterus' 'placenta neoplasm' SubClassOf 'placenta disease' http://purl.obolibrary.org/obo/MONDO_0021243 parotid gland neoplasm 'parotid gland neoplasm' SubClassOf 'neoplasm of major salivary gland' 'parotid gland neoplasm' SubClassOf 'parotid disease' http://purl.obolibrary.org/obo/MONDO_0021245 oral cavity neoplasm 'oral cavity neoplasm' SubClassOf 'mouth disease' 'oral cavity neoplasm' SubClassOf 'mouth neoplasm' 'oral cavity neoplasm' SubClassOf 'digestive system neoplasm' http://purl.obolibrary.org/obo/MONDO_0021246 pharynx neoplasm 'pharynx neoplasm' SubClassOf 'digestive system neoplasm' http://purl.obolibrary.org/obo/UBERON_1000003 dewlap 'dewlap' SubClassOf 'skin of face' http://purl.obolibrary.org/obo/MONDO_0021248 nervous system neoplasm 'nervous system neoplasm' SubClassOf 'nervous system disease' 'nervous system neoplasm' SubClassOf 'neoplasm' http://purl.obolibrary.org/obo/MONDO_0021249 lip neoplasm 'lip neoplasm' SubClassOf 'mouth neoplasm' 'lip neoplasm' SubClassOf 'head and neck neoplasia' 'lip neoplasm' SubClassOf 'digestive system neoplasm' 'lip neoplasm' SubClassOf 'lip disease' http://purl.obolibrary.org/obo/MONDO_0021230 uterine cervix neoplasm 'uterine cervix neoplasm' SubClassOf 'tumor of uterus' 'uterine cervix neoplasm' SubClassOf 'cervix disease' http://purl.obolibrary.org/obo/MONDO_0021231 retina neoplasm 'retina neoplasm' SubClassOf 'eye neoplasm' 'retina neoplasm' SubClassOf 'retinopathy' http://purl.obolibrary.org/obo/MONDO_0021232 pineal body neoplasm 'pineal body neoplasm' SubClassOf 'thalamic disease' 'pineal body neoplasm' SubClassOf 'brain neoplasm' 'pineal body neoplasm' SubClassOf 'neuroendocrine disease' 'pineal body neoplasm' SubClassOf 'endocrine gland neoplasm' http://purl.obolibrary.org/obo/MONDO_0021233 ear neoplasm 'ear neoplasm' SubClassOf 'disease of ear' 'ear neoplasm' SubClassOf 'nervous system neoplasm' 'ear neoplasm' SubClassOf 'head and neck neoplasia' http://purl.obolibrary.org/obo/MONDO_0008277 stomach polyp 'stomach polyp' SubClassOf 'gastric neoplasm' 'stomach polyp' SubClassOf 'polyp' http://purl.obolibrary.org/obo/MONDO_0021237 adrenal medulla neoplasm 'adrenal medulla neoplasm' SubClassOf 'adrenal gland neoplasm' http://purl.obolibrary.org/obo/MONDO_0021238 cornea neoplasm 'cornea neoplasm' SubClassOf 'eye neoplasm' 'cornea neoplasm' SubClassOf 'corneal disease' http://purl.obolibrary.org/obo/MONDO_0021239 urethra neoplasm 'urethra neoplasm' SubClassOf 'urethral disease' 'urethra neoplasm' SubClassOf 'urinary system neoplasm' http://purl.obolibrary.org/obo/MONDO_0008295 sporadic porphyria cutanea tarda 'sporadic porphyria cutanea tarda' SubClassOf 'Familial porphyria cutanea tarda' 'sporadic porphyria cutanea tarda' EquivalentTo 'Porphyria cutanea tarda' and ('has modifier' some 'acquired') 'sporadic porphyria cutanea tarda' SubClassOf 'acquired peripheral neuropathy' 'sporadic porphyria cutanea tarda' SubClassOf 'acquired metabolic disease' 'sporadic porphyria cutanea tarda' SubClassOf 'Porphyria cutanea tarda' http://purl.obolibrary.org/obo/MONDO_0021251 endometrium neoplasm 'endometrium neoplasm' SubClassOf 'tumor of uterus' 'endometrium neoplasm' SubClassOf 'endometrial disease' http://purl.obolibrary.org/obo/MONDO_0021254 corpus uteri neoplasm 'corpus uteri neoplasm' SubClassOf 'tumor of uterus' http://purl.obolibrary.org/obo/MONDO_0021257 glomus jugulare neoplasm 'glomus jugulare neoplasm' SubClassOf 'neoplasm of neck' 'glomus jugulare neoplasm' SubClassOf 'blood vessel neoplasm' 'glomus jugulare neoplasm' SubClassOf 'vein disease' http://purl.obolibrary.org/obo/MONDO_0021258 choroid neoplasm 'choroid neoplasm' SubClassOf 'optic choroid disease' 'choroid neoplasm' SubClassOf 'uvea neoplasm' 'choroid neoplasm' SubClassOf 'vascular neoplasm' http://purl.obolibrary.org/obo/MONDO_0021250 tonsil neoplasm 'tonsil neoplasm' SubClassOf 'lymphoid system disease' 'tonsil neoplasm' SubClassOf 'respiratory system neoplasm' 'tonsil neoplasm' SubClassOf 'disease of pharynx' 'tonsil neoplasm' SubClassOf 'pharynx neoplasm' 'tonsil neoplasm' SubClassOf 'head and neck neoplasia' http://purl.obolibrary.org/obo/MONDO_0021259 prostate neoplasm 'prostate neoplasm' SubClassOf 'prostate disease' 'prostate neoplasm' SubClassOf 'reproductive system neoplasm' http://purl.obolibrary.org/obo/UBERON_0004806 vas deferens epithelium 'vas deferens epithelium' SubClassOf 'epithelial layer of duct' http://purl.obolibrary.org/obo/UBERON_0004805 seminal vesicle epithelium 'seminal vesicle epithelium' SubClassOf 'meso-epithelium' 'seminal vesicle epithelium' SubClassOf 'epithelial layer of duct' 'seminal vesicle epithelium' SubClassOf 'epithelium of male gonad' http://purl.obolibrary.org/obo/UBERON_0004808 gastrointestinal system epithelium 'gastrointestinal system epithelium' SubClassOf 'epithelium' http://purl.obolibrary.org/obo/UBERON_0004807 respiratory system epithelium 'respiratory system epithelium' SubClassOf 'epithelium' http://purl.obolibrary.org/obo/UBERON_0004802 respiratory tract epithelium 'respiratory tract epithelium' SubClassOf 'respiratory system epithelium' 'respiratory tract epithelium' SubClassOf 'endo-epithelium' 'respiratory tract epithelium' SubClassOf 'pseudostratified ciliated columnar epithelium' http://purl.obolibrary.org/obo/UBERON_0004804 oviduct epithelium 'oviduct epithelium' SubClassOf 'meso-epithelium' http://purl.obolibrary.org/obo/UBERON_0004803 penis epithelium 'penis epithelium' SubClassOf 'meso-epithelium' http://purl.obolibrary.org/obo/UBERON_0004809 salivary gland epithelium 'salivary gland epithelium' SubClassOf 'digestive tract epithelium' http://purl.obolibrary.org/obo/MONDO_0021271 villous adenoma of colon 'villous adenoma of colon' SubClassOf 'colon adenoma' 'villous adenoma of colon' SubClassOf 'villous adenoma' http://purl.obolibrary.org/obo/MONDO_0045072 ectopic hormone secretion syndrome associated with neoplasia 'ectopic hormone secretion syndrome associated with neoplasia' SubClassOf 'neoplastic syndrome' http://purl.obolibrary.org/obo/MONDO_0045070 digestive system melanoma 'digestive system melanoma' SubClassOf 'digestive system cancer' 'digestive system melanoma' SubClassOf 'neuroendocrine carcinoma' 'digestive system melanoma' SubClassOf 'gastroenteropancreatic neuroendocrine neoplasm' 'digestive system melanoma' SubClassOf 'Non-Cutaneous Melanoma' http://purl.obolibrary.org/obo/UBERON_0012247 cervical gland 'cervical gland' SubClassOf 'endometrial gland' http://purl.obolibrary.org/obo/UBERON_0036216 tympanic nerve 'tympanic nerve' SubClassOf 'nerve of head region' http://purl.obolibrary.org/obo/UBERON_0012248 cervical mucosa 'cervical mucosa' SubClassOf 'endometrium' http://purl.obolibrary.org/obo/UBERON_0036219 ungulate coronary band 'ungulate coronary band' SubClassOf 'digit skin' http://purl.obolibrary.org/obo/UBERON_0014890 right hemisphere of cerebellum 'right hemisphere of cerebellum' SubClassOf 'cerebellar hemisphere' http://purl.obolibrary.org/obo/MONDO_0021091 papillary cystadenoma 'papillary cystadenoma' SubClassOf 'cystadenoma' 'papillary cystadenoma' SubClassOf 'Papillary Cystic Neoplasm' 'papillary cystadenoma' SubClassOf 'papillary adenoma' 'papillary cystadenoma' EquivalentTo 'cystadenoma' and 'Papillary Cystic Neoplasm' http://purl.obolibrary.org/obo/MONDO_0021092 fallopian tube neoplasm 'fallopian tube neoplasm' SubClassOf 'fallopian tube disease' 'fallopian tube neoplasm' SubClassOf 'female reproductive system neoplasm' http://purl.obolibrary.org/obo/MONDO_0021094 immunodeficiency disease 'immunodeficiency disease' SubClassOf 'immune system disease' http://purl.obolibrary.org/obo/UBERON_0036225 respiratory system gland 'respiratory system gland' SubClassOf 'gland' http://purl.obolibrary.org/obo/UBERON_0012236 intercostal lymph node 'intercostal lymph node' SubClassOf 'thoracic lymph node' http://purl.obolibrary.org/obo/MONDO_0021095 parkinsonian disorder 'parkinsonian disorder' SubClassOf 'basal ganglia disease' http://purl.obolibrary.org/obo/MONDO_0021096 papillary epithelial neoplasm 'papillary epithelial neoplasm' SubClassOf 'epithelial neoplasm' http://purl.obolibrary.org/obo/UBERON_0012239 urinary bladder vasculature 'urinary bladder vasculature' SubClassOf 'vasculature of trunk' 'urinary bladder vasculature' SubClassOf 'vasculature of organ' http://purl.obolibrary.org/obo/UBERON_0012237 superior phrenic vein 'superior phrenic vein' SubClassOf 'phrenic vein' http://purl.obolibrary.org/obo/UBERON_0012238 ureteric bud trunk 'ureteric bud trunk' SubClassOf 'polarized epithelium' 'ureteric bud trunk' SubClassOf 'epithelial layer of duct' 'ureteric bud trunk' SubClassOf 'mesonephric tubule' http://purl.obolibrary.org/obo/UBERON_0014899 anterolateral ligament of knee 'anterolateral ligament of knee' SubClassOf 'ligament of knee joint' http://purl.obolibrary.org/obo/MONDO_0045054 cancer-related condition 'cancer-related condition' SubClassOf 'cell proliferation disorder' http://purl.obolibrary.org/obo/UBERON_0012260 alular digit 'alular digit' SubClassOf 'manual digit' http://purl.obolibrary.org/obo/UBERON_0012261 manual major digit (Aves) 'manual major digit (Aves)' SubClassOf 'manual digit' http://purl.obolibrary.org/obo/UBERON_0012262 manual minor digit (Aves) 'manual minor digit (Aves)' SubClassOf 'manual digit' http://purl.obolibrary.org/obo/UBERON_0012268 equine forelimb splint bone 'equine forelimb splint bone' SubClassOf 'forelimb long bone' 'equine forelimb splint bone' SubClassOf 'equine splint bone' 'equine forelimb splint bone' SubClassOf 'manual digitopodium bone' http://purl.obolibrary.org/obo/MONDO_0045058 ACTH-producing pituitary gland neoplasm 'ACTH-producing pituitary gland neoplasm' SubClassOf 'pituitary tumor' http://purl.obolibrary.org/obo/UBERON_0012269 equine hindlimb splint bone 'equine hindlimb splint bone' SubClassOf 'hindlimb long bone' 'equine hindlimb splint bone' SubClassOf 'equine splint bone' 'equine hindlimb splint bone' SubClassOf 'pedal digitopodium bone' http://purl.obolibrary.org/obo/UBERON_0012267 equine splint bone 'equine splint bone' SubClassOf 'metapodium bone' http://purl.obolibrary.org/obo/MONDO_0045063 major salivary gland adenoid cystic carcinoma 'major salivary gland adenoid cystic carcinoma' SubClassOf 'salivary gland adenoid cystic carcinoma' 'major salivary gland adenoid cystic carcinoma' SubClassOf 'Major Salivary Gland Carcinoma' http://purl.obolibrary.org/obo/UBERON_0012250 cervix glandular epithelium 'cervix glandular epithelium' SubClassOf 'glandular epithelium' 'cervix glandular epithelium' SubClassOf 'cervix epithelium' http://purl.obolibrary.org/obo/UBERON_0012253 cervical squamo-columnar junction 'cervical squamo-columnar junction' SubClassOf 'cervix epithelium' http://purl.obolibrary.org/obo/UBERON_0012254 abdominal aorta artery 'abdominal aorta artery' SubClassOf 'systemic artery' http://purl.obolibrary.org/obo/UBERON_0012251 ectocervical epithelium 'ectocervical epithelium' SubClassOf 'cervix epithelium' http://purl.obolibrary.org/obo/UBERON_0012252 endocervical epithelium 'endocervical epithelium' SubClassOf 'cervix glandular epithelium' http://purl.obolibrary.org/obo/MONDO_0045069 minor salivary gland carcinoma 'minor salivary gland carcinoma' SubClassOf 'malignant tumor of minor salivary gland' 'minor salivary gland carcinoma' SubClassOf 'salivary gland carcinoma' http://purl.obolibrary.org/obo/UBERON_0012255 inferior phrenic artery 'inferior phrenic artery' SubClassOf 'abdominal aorta artery' 'inferior phrenic artery' SubClassOf 'phrenic artery' http://purl.obolibrary.org/obo/UBERON_0000218 vertebral arch of axis 'vertebral arch of axis' SubClassOf 'neural arch' http://purl.obolibrary.org/obo/UBERON_0014864 caterpillar stage 'caterpillar stage' SubClassOf 'larval stage' http://purl.obolibrary.org/obo/UBERON_0012200 anterior intercostal vein 'posterior intercostal vein' DisjointWith 'anterior intercostal vein' 'anterior intercostal vein' SubClassOf 'intercostal vein' http://purl.obolibrary.org/obo/UBERON_0000212 toilet claw 'toilet claw' SubClassOf 'nail' http://purl.obolibrary.org/obo/UBERON_0000210 tetrapod parietal bone 'tetrapod parietal bone' SubClassOf 'intramembranous bone' 'tetrapod parietal bone' SubClassOf 'neurocranium bone' 'tetrapod parietal bone' SubClassOf 'flat bone' http://purl.obolibrary.org/obo/UBERON_0000220 atlanto-occipital joint 'atlanto-occipital joint' SubClassOf 'synovial joint' http://purl.obolibrary.org/obo/UBERON_0014889 left hemisphere of cerebellum 'left hemisphere of cerebellum' SubClassOf 'cerebellar hemisphere' http://purl.obolibrary.org/obo/UBERON_0014888 iliotibialis muscle 'iliotibialis muscle' SubClassOf 'hindlimb muscle' http://purl.obolibrary.org/obo/UBERON_0036290 myocardium of anterior wall of left ventricle 'myocardium of anterior wall of left ventricle' SubClassOf 'left ventricle myocardium' http://purl.obolibrary.org/obo/UBERON_0036291 myocardium of anterior wall of right ventricle 'myocardium of anterior wall of right ventricle' SubClassOf 'right ventricle myocardium' http://purl.obolibrary.org/obo/UBERON_0036293 oral frenulum 'oral frenulum' SubClassOf 'mouth mucosa' http://purl.obolibrary.org/obo/UBERON_0036294 mucosa of lip 'mucosa of lip' SubClassOf 'mouth mucosa' http://purl.obolibrary.org/obo/UBERON_0036270 epihyoideum 'epihyoideum' SubClassOf 'ligament' http://purl.obolibrary.org/obo/UBERON_0012282 mammary fat pad 'mammary fat pad' SubClassOf 'fat pad' 'mammary fat pad' SubClassOf 'mammary gland fat' http://purl.obolibrary.org/obo/UBERON_0012283 femoral fat pad 'femoral fat pad' SubClassOf 'fat pad' http://purl.obolibrary.org/obo/UBERON_0012281 perianal sebaceous gland 'perianal sebaceous gland' SubClassOf 'modified sebaceous gland' 'perianal sebaceous gland' SubClassOf 'skin scent gland' http://purl.obolibrary.org/obo/UBERON_0012286 hemisphere of embryo 'hemisphere of embryo' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0012287 Rathkes pouch epithelium 'Rathkes pouch epithelium' SubClassOf 'oral epithelium from ectoderm' 'Rathkes pouch epithelium' SubClassOf 'epithelial sac' http://purl.obolibrary.org/obo/UBERON_0012284 animal hemisphere 'animal hemisphere' SubClassOf 'hemisphere of embryo' http://purl.obolibrary.org/obo/UBERON_0036255 interoceptive system 'interoceptive system' SubClassOf 'sensory system' http://purl.obolibrary.org/obo/UBERON_0012285 vegetal hemisphere 'vegetal hemisphere' SubClassOf 'hemisphere of embryo' http://purl.obolibrary.org/obo/UBERON_0036256 iliac lymph sac 'iliac lymph sac' SubClassOf 'embryonic lymph sac' http://purl.obolibrary.org/obo/UBERON_0012288 centroquartal bone 'centroquartal bone' SubClassOf 'tarsal bone' http://purl.obolibrary.org/obo/UBERON_0012289 fused tarsal bones 2 and 3 'fused tarsal bones 2 and 3' SubClassOf 'distal tarsal bone' http://purl.obolibrary.org/obo/UBERON_0036260 embryonic cisterna chyli 'embryonic cisterna chyli' SubClassOf 'embryonic lymph sac' http://purl.obolibrary.org/obo/UBERON_0036261 accessory lymph sac 'accessory lymph sac' SubClassOf 'epithelial sac' http://purl.obolibrary.org/obo/UBERON_0036262 uterine ligament 'uterine ligament' SubClassOf 'ligament' http://purl.obolibrary.org/obo/UBERON_0012275 meso-epithelium 'meso-epithelium' SubClassOf 'epithelium' http://purl.obolibrary.org/obo/UBERON_0036264 zygomaticotemporal nerve 'zygomaticotemporal nerve' SubClassOf 'nerve of head region' http://purl.obolibrary.org/obo/UBERON_0012276 endometrium glandular epithelium 'endometrium glandular epithelium' SubClassOf 'ciliated columnar oviduct epithelium' 'endometrium glandular epithelium' SubClassOf 'glandular columnar epithelium' 'endometrium glandular epithelium' SubClassOf 'endometrium epithelium' http://purl.obolibrary.org/obo/UBERON_0012274 columnar epithelium 'columnar epithelium' SubClassOf 'epithelium' http://purl.obolibrary.org/obo/UBERON_0036267 vulval vein 'vulval vein' SubClassOf 'vein' http://purl.obolibrary.org/obo/UBERON_0036268 pelvic vein 'pelvic vein' SubClassOf 'vein' http://purl.obolibrary.org/obo/UBERON_0036269 penis blood vessel 'penis blood vessel' SubClassOf 'blood vessel' http://purl.obolibrary.org/obo/UBERON_0012278 gland of nasal mucosa 'gland of nasal mucosa' SubClassOf 'exocrine gland' 'gland of nasal mucosa' SubClassOf 'respiratory system gland' http://purl.obolibrary.org/obo/UBERON_0012290 fused carpal bones 2 and 3 'fused carpal bones 2 and 3' SubClassOf 'distal carpal bone' http://purl.obolibrary.org/obo/UBERON_0036243 vaginal fluid 'vaginal fluid' SubClassOf 'bodily fluid' http://purl.obolibrary.org/obo/UBERON_0036244 secretion of serous membrane 'secretion of serous membrane' SubClassOf 'transudate' http://purl.obolibrary.org/obo/UBERON_0036246 incudostapedial joint 'incudostapedial joint' SubClassOf 'joint of auditory ossicle' http://purl.obolibrary.org/obo/UBERON_0036247 incudomallear joint 'incudomallear joint' SubClassOf 'joint of auditory ossicle' http://purl.obolibrary.org/obo/UBERON_0012299 mucosa of urethra 'mucosa of urethra' SubClassOf 'mucosa' http://purl.obolibrary.org/obo/UBERON_0036248 joint of auditory ossicle 'joint of auditory ossicle' SubClassOf 'synovial joint' http://purl.obolibrary.org/obo/MONDO_0021106 laminopathy 'laminopathy' SubClassOf 'inherited genetic disease' 'laminopathy' SubClassOf 'disease by cellular component affected' http://purl.obolibrary.org/obo/MONDO_0021107 narcolepsy 'narcolepsy' SubClassOf 'Sleep Disorder' http://purl.obolibrary.org/obo/MONDO_0021108 meningitis (disease) 'meningitis (disease)' SubClassOf 'encephalomyelitis' 'meningitis (disease)' EquivalentTo 'aseptic meningitis' or 'bacterial meningitis' http://purl.obolibrary.org/obo/MONDO_0021126 syndromic or isolated 'syndromic or isolated' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0021127 has a syndromic presentation 'has a syndromic presentation' SubClassOf 'syndromic or isolated' http://purl.obolibrary.org/obo/MONDO_0021128 has an isolated presentation 'has an isolated presentation' SubClassOf 'syndromic or isolated' http://purl.obolibrary.org/obo/MONDO_0021110 sweat gland adenoma 'sweat gland adenoma' SubClassOf 'sweat gland neoplasm' 'sweat gland adenoma' SubClassOf 'epithelial skin neoplasm' 'sweat gland adenoma' SubClassOf 'adenoma' http://purl.obolibrary.org/obo/MONDO_0021111 ureter neoplasm 'ureter neoplasm' SubClassOf 'urinary system neoplasm' 'ureter neoplasm' SubClassOf 'ureteral disease' http://purl.obolibrary.org/obo/MONDO_0021114 Bartholin gland neoplasm 'Bartholin gland neoplasm' SubClassOf 'integumentary system disease' 'Bartholin gland neoplasm' SubClassOf 'vulvar neoplasm' http://purl.obolibrary.org/obo/MONDO_0008162 otitis media, susceptibility to 'otitis media, susceptibility to' SubClassOf 'inherited disease susceptibility' 'otitis media, susceptibility to' SubClassOf 'predisposes towards' some 'Otitis media' 'otitis media, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'Otitis media') http://purl.obolibrary.org/obo/MONDO_0021117 lung neoplasm 'lung neoplasm' SubClassOf 'lung disease' 'lung neoplasm' SubClassOf 'respiratory tract neoplasm' 'lung neoplasm' SubClassOf 'neoplasm of thorax' http://purl.obolibrary.org/obo/MONDO_0021118 intestinal neoplasm 'intestinal neoplasm' SubClassOf 'intestinal disease' 'intestinal neoplasm' SubClassOf 'digestive system neoplasm' http://purl.obolibrary.org/obo/MONDO_0021119 non-functioning endocrine neoplasm 'non-functioning endocrine neoplasm' SubClassOf 'endocrine gland neoplasm' http://purl.obolibrary.org/obo/MONDO_0021141 acquired 'acquired' SubClassOf 'congenital or acquired' http://purl.obolibrary.org/obo/MONDO_0021142 acquired rippling muscle disease 'acquired rippling muscle disease' SubClassOf 'acquired skeletal muscle disease' 'acquired rippling muscle disease' SubClassOf 'inherited rippling muscle disease' 'acquired rippling muscle disease' EquivalentTo 'Rippling muscle disease' and ('has modifier' some 'acquired') 'acquired rippling muscle disease' SubClassOf 'Rippling muscle disease' http://purl.obolibrary.org/obo/MONDO_0021143 melanocytic neoplasm 'melanocytic neoplasm' SubClassOf 'neoplasm' 'melanocytic neoplasm' SubClassOf 'neurocristopathy' http://purl.obolibrary.org/obo/MONDO_0021144 ovarian clear cell tumor 'ovarian clear cell tumor' SubClassOf 'ovarian epithelial tumor' http://purl.obolibrary.org/obo/MONDO_0021147 disorder of development or morphogenesis 'disorder of development or morphogenesis' SubClassOf 'disease' http://purl.obolibrary.org/obo/MONDO_0021148 female reproductive system neoplasm 'female reproductive system neoplasm' SubClassOf 'female reproductive system disease' 'female reproductive system neoplasm' SubClassOf 'reproductive system neoplasm' http://purl.obolibrary.org/obo/MONDO_0021140 congenital 'congenital' SubClassOf 'congenital or acquired' http://purl.obolibrary.org/obo/MONDO_0008170 ovarian cancer 'ovarian cancer' SubClassOf 'female reproductive organ cancer' 'ovarian cancer' SubClassOf 'ovarian neoplasm' http://purl.obolibrary.org/obo/MONDO_0021149 genetic vs non-genetic etiology 'genetic vs non-genetic etiology' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/UBERON_0000303 adductor longus 'adductor longus' SubClassOf 'hindlimb stylopod muscle' 'adductor longus' SubClassOf 'adductor muscle of hip' http://purl.obolibrary.org/obo/MONDO_0021133 acquired factor XIII deficiency 'acquired factor XIII deficiency' EquivalentTo 'factor XIII deficiency' and ('has modifier' some 'acquired') 'acquired factor XIII deficiency' SubClassOf 'Congenital factor XIII deficiency' 'acquired factor XIII deficiency' SubClassOf 'acquired coagulation factor deficiency' http://purl.obolibrary.org/obo/MONDO_0021134 acquired factor X deficiency 'acquired factor X deficiency' EquivalentTo 'factor X deficiency' and ('has modifier' some 'acquired') 'acquired factor X deficiency' SubClassOf 'acquired coagulation factor deficiency' 'acquired factor X deficiency' SubClassOf 'factor X deficiency' http://purl.obolibrary.org/obo/MONDO_0021135 rare or common 'rare or common' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0021136 rare 'rare' SubClassOf 'rare or common' http://purl.obolibrary.org/obo/UBERON_0000307 blastula 'blastula' SubClassOf 'embryo' http://purl.obolibrary.org/obo/MONDO_0021137 not rare 'not rare' SubClassOf 'rare or common' http://purl.obolibrary.org/obo/UBERON_0014931 periungual skin 'periungual skin' SubClassOf 'digit skin' http://purl.obolibrary.org/obo/MONDO_0021138 bone marrow cancer 'bone marrow cancer' SubClassOf 'bone cancer' 'bone marrow cancer' SubClassOf 'immune system cancer' 'bone marrow cancer' SubClassOf 'bone marrow neoplasm' http://purl.obolibrary.org/obo/MONDO_0021139 congenital or acquired 'congenital or acquired' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/UBERON_0002962 adductor pollicis muscle 'adductor pollicis muscle' SubClassOf 'adductor muscle' 'adductor pollicis muscle' SubClassOf 'muscle of manus' http://purl.obolibrary.org/obo/UBERON_0000316 cervical mucus 'cervical mucus' SubClassOf 'mucus' http://purl.obolibrary.org/obo/MONDO_0021165 Paget disease 'Paget disease' SubClassOf 'adenocarcinoma' http://purl.obolibrary.org/obo/UBERON_0000314 cecum mucosa 'cecum mucosa' SubClassOf 'colonic mucosa' http://purl.obolibrary.org/obo/MONDO_0021166 inflammatory disease 'inflammatory disease' SubClassOf 'disease' http://purl.obolibrary.org/obo/UBERON_0000319 cytotrophoblast 'cytotrophoblast' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/MONDO_0021169 epithelioid hemangioma 'epithelioid hemangioma' SubClassOf 'hemangioma' http://purl.obolibrary.org/obo/UBERON_0012305 marginal cutaneous pouch of ear 'marginal cutaneous pouch of ear' SubClassOf 'skin of external ear' http://purl.obolibrary.org/obo/UBERON_0012306 lateral cervical lymph node 'lateral cervical lymph node' SubClassOf 'cervical lymph node' http://purl.obolibrary.org/obo/UBERON_0012304 nasal diverticulum 'nasal diverticulum' SubClassOf 'skin of face' http://purl.obolibrary.org/obo/UBERON_0012309 superficial anterior cervical lymph node 'superficial anterior cervical lymph node' SubClassOf 'superficial cervical lymph node' 'superficial anterior cervical lymph node' SubClassOf 'anterior cervical lymph node' http://purl.obolibrary.org/obo/UBERON_0012307 anterior cervical lymph node 'anterior cervical lymph node' SubClassOf 'cervical lymph node' http://purl.obolibrary.org/obo/UBERON_0012308 superficial lateral cervical lymph node 'superficial lateral cervical lymph node' SubClassOf 'superficial cervical lymph node' 'superficial lateral cervical lymph node' SubClassOf 'lateral cervical lymph node' http://purl.obolibrary.org/obo/UBERON_0000311 extensor muscle 'extensor muscle' SubClassOf 'skeletal muscle organ' http://purl.obolibrary.org/obo/MONDO_0021152 inherited 'inherited' SubClassOf 'genetic vs non-genetic etiology' http://purl.obolibrary.org/obo/MONDO_0021154 dermis disease 'dermis disease' SubClassOf 'integumentary system disease' http://purl.obolibrary.org/obo/UBERON_0000325 gastric gland 'gastric gland' SubClassOf 'gland of foregut' 'gastric gland' SubClassOf 'exocrine gland' http://purl.obolibrary.org/obo/MONDO_0021155 X-linked cone-rod dystrophy 'X-linked cone-rod dystrophy' SubClassOf 'X-linked disease' 'X-linked cone-rod dystrophy' SubClassOf 'Cone rod dystrophy' http://purl.obolibrary.org/obo/UBERON_0002988 first dorsal interosseous of manus 'first dorsal interosseous of manus' SubClassOf 'dorsal interosseous of manus' http://purl.obolibrary.org/obo/UBERON_0002989 anconeus muscle 'anconeus muscle' SubClassOf 'forelimb stylopod muscle' http://purl.obolibrary.org/obo/MONDO_0008199 late-onset Parkinson disease 'late-onset Parkinson disease' SubClassOf 'Parkinson's disease' http://purl.obolibrary.org/obo/UBERON_0000320 duodenal mucosa 'duodenal mucosa' SubClassOf 'mucosa of small intestine' http://purl.obolibrary.org/obo/MONDO_0021187 hyperlipidemia (disease) 'hyperlipidemia (disease)' SubClassOf 'nutritional or metabolic disease' 'hyperlipidemia (disease)' SubClassOf 'metabolic disease' http://purl.obolibrary.org/obo/MONDO_0021189 intestinal motility disease 'intestinal motility disease' SubClassOf 'intestinal disease' http://purl.obolibrary.org/obo/MONDO_0021180 acquired xanthinuria 'acquired xanthinuria' EquivalentTo 'xanthinuria' and ('has modifier' some 'acquired') 'acquired xanthinuria' SubClassOf 'xanthinuria' 'acquired xanthinuria' SubClassOf 'acquired metabolic disease' http://purl.obolibrary.org/obo/MONDO_0021184 deltaretrovirus infections 'deltaretrovirus infections' SubClassOf 'viral disease' http://purl.obolibrary.org/obo/UBERON_0014904 intersegmental pulmonary vein 'intersegmental pulmonary vein' SubClassOf 'pulmonary vein' http://purl.obolibrary.org/obo/UBERON_0002926 gustatory epithelium 'gustatory epithelium' SubClassOf 'sensory epithelium' http://purl.obolibrary.org/obo/MONDO_0021179 proteostasis deficiencies 'proteostasis deficiencies' SubClassOf 'nutritional or metabolic disease' 'proteostasis deficiencies' SubClassOf 'metabolic disease' http://purl.obolibrary.org/obo/MONDO_0060779 acquired Fanconi syndrome 'acquired Fanconi syndrome' SubClassOf 'has modifier' some 'acquired' 'acquired Fanconi syndrome' EquivalentTo 'Fanconi syndrome' and ('has modifier' some 'acquired') 'acquired Fanconi syndrome' SubClassOf 'Fanconi syndrome' http://purl.obolibrary.org/obo/MONDO_0021196 disease by molecular activity disrupted 'disease by molecular activity disrupted' SubClassOf 'disease by subcellular system affected' http://purl.obolibrary.org/obo/MONDO_0021197 disease by cellular component affected 'disease by cellular component affected' SubClassOf 'disease by subcellular system affected' http://purl.obolibrary.org/obo/MONDO_0021199 disease by anatomical system 'disease by anatomical system' SubClassOf 'disease' http://purl.obolibrary.org/obo/MONDO_0021191 malignant ependymoma 'malignant ependymoma' SubClassOf 'ependymoma' 'malignant ependymoma' SubClassOf 'malignant glioma' http://purl.obolibrary.org/obo/MONDO_0021192 odontogenic neoplasm 'odontogenic neoplasm' SubClassOf 'mouth neoplasm' 'odontogenic neoplasm' SubClassOf 'head and neck neoplasia' 'odontogenic neoplasm' SubClassOf 'digestive system neoplasm' 'odontogenic neoplasm' SubClassOf 'tooth disease' http://purl.obolibrary.org/obo/MONDO_0021193 neuroepithelial neoplasm 'neuroepithelial neoplasm' SubClassOf 'nervous system neoplasm' http://purl.obolibrary.org/obo/MONDO_0021194 disease by subcellular system affected 'disease by subcellular system affected' EquivalentTo 'disease by cellular process disrupted' or 'disease by molecular activity disrupted' or 'disease by cellular component affected' 'disease by subcellular system affected' SubClassOf 'disease' http://purl.obolibrary.org/obo/MONDO_0021195 disease by cellular process disrupted 'disease by cellular process disrupted' SubClassOf 'disease by subcellular system affected' http://purl.obolibrary.org/obo/MONDO_0060765 fibroepithelial polyp 'fibroepithelial polyp' SubClassOf 'polyp' http://purl.obolibrary.org/obo/MONDO_0060766 anal polyp 'anal polyp' SubClassOf 'gastrointestinal polyp' 'anal polyp' SubClassOf 'polyp of rectum' 'anal polyp' SubClassOf 'anus neoplasm' http://purl.obolibrary.org/obo/UBERON_0014781 stomodeal ectoderm 'stomodeal ectoderm' SubClassOf 'epithelium' http://purl.obolibrary.org/obo/UBERON_0012125 dermatological-muscosal system 'dermatological-muscosal system' SubClassOf 'anatomical system' http://purl.obolibrary.org/obo/UBERON_0014788 right extraembryonic umbilical vein 'right extraembryonic umbilical vein' SubClassOf 'extraembryonic umbilical vein' http://purl.obolibrary.org/obo/UBERON_0012126 fibulare 'fibulare' SubClassOf 'proximal tarsal bone' http://purl.obolibrary.org/obo/UBERON_0014787 left extraembryonic umbilical vein 'left extraembryonic umbilical vein' SubClassOf 'extraembryonic umbilical vein' http://purl.obolibrary.org/obo/UBERON_0014786 extraembryonic umbilical vein 'extraembryonic umbilical vein' SubClassOf 'vein' http://purl.obolibrary.org/obo/UBERON_0012124 avian scapholunar bone 'avian scapholunar bone' SubClassOf 'proximal carpal bone' http://purl.obolibrary.org/obo/UBERON_0014789 embryo portion of umbilical vein 'embryo portion of umbilical vein' SubClassOf 'vein' http://purl.obolibrary.org/obo/UBERON_0014773 medial palpebral artery 'medial palpebral artery' SubClassOf 'systemic artery' 'lateral palpebral artery' DisjointWith 'medial palpebral artery' 'medial palpebral artery' SubClassOf 'palpebral artery' http://purl.obolibrary.org/obo/UBERON_0014772 lateral palpebral artery 'lateral palpebral artery' SubClassOf 'palpebral artery' 'lateral palpebral artery' DisjointWith 'medial palpebral artery' 'lateral palpebral artery' SubClassOf 'systemic artery' http://purl.obolibrary.org/obo/UBERON_0014770 palpebral artery 'palpebral artery' SubClassOf 'artery' 'palpebral artery' SubClassOf 'head blood vessel' http://purl.obolibrary.org/obo/UBERON_0000151 pectoral fin 'pectoral fin' SubClassOf 'pectoral appendage' 'pectoral fin' SubClassOf 'paired fin' http://purl.obolibrary.org/obo/UBERON_0014791 musculature of forelimb stylopod 'musculature of forelimb stylopod' SubClassOf 'musculature of arm' http://purl.obolibrary.org/obo/UBERON_0014795 pelvic appendage muscle 'pelvic appendage muscle' SubClassOf 'pelvic complex muscle' http://purl.obolibrary.org/obo/UBERON_0012132 intercuneiform joint 'intercuneiform joint' SubClassOf 'skeletal joint' http://purl.obolibrary.org/obo/UBERON_0014794 pectoral appendage muscle 'pectoral appendage muscle' SubClassOf 'pectoral complex muscle' http://purl.obolibrary.org/obo/UBERON_0012133 lateral-intermediate intercuneiform joint 'lateral-intermediate intercuneiform joint' SubClassOf 'intercuneiform joint' 'lateral-intermediate intercuneiform joint' DisjointWith 'medial-intermediate intercuneiform joint' http://purl.obolibrary.org/obo/UBERON_0014793 musculature of pectoral complex 'musculature of pectoral complex' SubClassOf 'musculature' http://purl.obolibrary.org/obo/UBERON_0012131 centrale 'centrale' SubClassOf 'mesopodium bone' http://purl.obolibrary.org/obo/UBERON_0014792 musculature of pelvic complex 'musculature of pelvic complex' SubClassOf 'musculature' http://purl.obolibrary.org/obo/UBERON_0014799 acromiotrapezius muscle 'acromiotrapezius muscle' SubClassOf 'trapezius muscle' http://purl.obolibrary.org/obo/UBERON_0012137 pedal digit 7 'pedal digit 7' SubClassOf 'pedal digit' http://purl.obolibrary.org/obo/UBERON_0014798 clavotrapezius muscle 'clavotrapezius muscle' SubClassOf 'trapezius muscle' http://purl.obolibrary.org/obo/UBERON_0012134 medial-intermediate intercuneiform joint 'lateral-intermediate intercuneiform joint' DisjointWith 'medial-intermediate intercuneiform joint' 'medial-intermediate intercuneiform joint' SubClassOf 'intercuneiform joint' http://purl.obolibrary.org/obo/UBERON_0012138 pedal digit 8 'pedal digit 8' SubClassOf 'pedal digit' http://purl.obolibrary.org/obo/UBERON_0000164 primitive urogenital sinus 'primitive urogenital sinus' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0000102 lung vasculature 'lung vasculature' SubClassOf 'vasculature of trunk' 'lung vasculature' SubClassOf 'vasculature of organ' http://purl.obolibrary.org/obo/UBERON_0000100 blastopore 'blastopore' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0000118 lung bud 'lung bud' SubClassOf 'endo-epithelium' 'lung bud' SubClassOf 'epithelial bud' http://purl.obolibrary.org/obo/UBERON_0014762 fused metapodial bones 2-4 'fused metapodial bones 2-4' SubClassOf 'fused metapodial bones 3 and 4' http://purl.obolibrary.org/obo/UBERON_0012104 sesamoid bone of the peroneus longus muscle 'sesamoid bone of the peroneus longus muscle' SubClassOf 'sesamoid bone' 'sesamoid bone of the peroneus longus muscle' SubClassOf 'hindlimb zeugopod bone' http://purl.obolibrary.org/obo/UBERON_0012102 buccal salivary gland 'buccal salivary gland' SubClassOf 'saliva-secreting gland' http://purl.obolibrary.org/obo/UBERON_0014763 fused metatarsal bones 2-4 'fused metatarsal bones 2-4' SubClassOf 'fused metapodial bones 2-4' 'fused metatarsal bones 2-4' SubClassOf 'fused metatarsal bones 3 and 4' http://purl.obolibrary.org/obo/UBERON_0014769 palpebral vein 'palpebral vein' SubClassOf 'head blood vessel' 'palpebral vein' SubClassOf 'neck blood vessel' 'palpebral vein' SubClassOf 'craniocervical region vein' http://purl.obolibrary.org/obo/UBERON_0014768 superior palpebral vein 'superior palpebral vein' SubClassOf 'palpebral vein' http://purl.obolibrary.org/obo/UBERON_0036172 palmaris brevis 'palmaris brevis' SubClassOf 'hypothenar muscle' http://purl.obolibrary.org/obo/UBERON_0036173 abductor digiti minimi of hand 'abductor digiti minimi of hand' SubClassOf 'hypothenar muscle' http://purl.obolibrary.org/obo/UBERON_0036174 flexor digiti minimi brevis of hand 'flexor digiti minimi brevis of hand' SubClassOf 'hypothenar muscle' http://purl.obolibrary.org/obo/UBERON_0036176 opponens digiti minimi of hand 'opponens digiti minimi of hand' SubClassOf 'hypothenar muscle' http://purl.obolibrary.org/obo/UBERON_0012194 superior intercostal vein 'superior intercostal vein' SubClassOf 'intercostal vein' http://purl.obolibrary.org/obo/UBERON_0012195 left superior intercostal vein 'left superior intercostal vein' SubClassOf 'superior intercostal vein' http://purl.obolibrary.org/obo/UBERON_0036185 Sertoli cell barrier 'Sertoli cell barrier' SubClassOf 'squamous epithelium' http://purl.obolibrary.org/obo/UBERON_0012193 phrenic vein 'phrenic vein' SubClassOf 'vein' http://purl.obolibrary.org/obo/UBERON_0012199 posterior intercostal vein 'posterior intercostal vein' DisjointWith 'anterior intercostal vein' 'posterior intercostal vein' SubClassOf 'intercostal vein' http://purl.obolibrary.org/obo/UBERON_0012196 right superior intercostal vein 'right superior intercostal vein' SubClassOf 'superior intercostal vein' http://purl.obolibrary.org/obo/UBERON_0012197 intercostal vein 'intercostal vein' SubClassOf 'vein' http://purl.obolibrary.org/obo/UBERON_0036151 diffuse placenta 'diffuse placenta' SubClassOf 'placenta' http://purl.obolibrary.org/obo/UBERON_0036152 cotyledonary placenta 'cotyledonary placenta' SubClassOf 'placenta' http://purl.obolibrary.org/obo/UBERON_0036153 zonary placenta 'zonary placenta' SubClassOf 'placenta' http://purl.obolibrary.org/obo/UBERON_0036154 discoid placenta 'discoid placenta' SubClassOf 'placenta' http://purl.obolibrary.org/obo/UBERON_0036161 epitheliochorial placenta 'epitheliochorial placenta' SubClassOf 'placenta' http://purl.obolibrary.org/obo/UBERON_0036162 endotheliochorial placenta 'endotheliochorial placenta' SubClassOf 'placenta' http://purl.obolibrary.org/obo/UBERON_0036163 hemochorial placenta 'hemochorial placenta' SubClassOf 'placenta' http://purl.obolibrary.org/obo/UBERON_0012167 buccal fat pad 'buccal fat pad' SubClassOf 'fat pad' http://purl.obolibrary.org/obo/UBERON_0000179 haemolymphatic fluid 'haemolymphatic fluid' SubClassOf 'bodily fluid' http://purl.obolibrary.org/obo/UBERON_0036143 meningeal branch of mandibular nerve 'meningeal branch of mandibular nerve' SubClassOf 'nerve of head region' http://purl.obolibrary.org/obo/UBERON_0036145 glymphatic system 'glymphatic system' SubClassOf 'anatomical system' http://purl.obolibrary.org/obo/UBERON_0036146 cardiopharyngeal field 'cardiopharyngeal field' SubClassOf 'embryonic structure' 'cardiopharyngeal field' SubClassOf 'anlage' http://purl.obolibrary.org/obo/UBERON_0036149 suprapubic skin 'suprapubic skin' SubClassOf 'abdominal skin' http://purl.obolibrary.org/obo/UBERON_0012180 head or neck skin 'head or neck skin' SubClassOf 'zone of skin' http://purl.obolibrary.org/obo/UBERON_0012181 tonsil crypt 'tonsil crypt' SubClassOf 'tonsil epithelium' http://purl.obolibrary.org/obo/UBERON_0012187 frontal artery 'frontal artery' SubClassOf 'terminal branch of ophthalmic artery' http://purl.obolibrary.org/obo/UBERON_0012172 stomach primordium 'stomach primordium' SubClassOf 'primordium' http://purl.obolibrary.org/obo/UBERON_0012173 middle suprarenal artery 'middle suprarenal artery' SubClassOf 'suprarenal artery' 'middle suprarenal artery' SubClassOf 'abdominal aorta artery' http://purl.obolibrary.org/obo/UBERON_0012177 skin apocrine gland 'skin apocrine gland' SubClassOf 'skin gland' 'skin apocrine gland' SubClassOf 'apocrine gland' 'skin apocrine gland' SubClassOf 'exocrine gland of integumental system' http://purl.obolibrary.org/obo/UBERON_0012175 acoustico-facial VII-VIII ganglion complex 'acoustico-facial VII-VIII ganglion complex' SubClassOf 'cranial ganglion' http://purl.obolibrary.org/obo/UBERON_0012179 bone of pelvis 'bone of pelvis' SubClassOf 'abdominal segment bone' http://purl.obolibrary.org/obo/MONDO_0023603 hereditary connective tissue disorder 'hereditary connective tissue disorder' SubClassOf 'connective tissue disease' 'hereditary connective tissue disorder' SubClassOf 'inherited genetic disease' 'hereditary connective tissue disorder' EquivalentTo 'connective tissue disease' and ('has modifier' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0023616 familial leiomyomatosis 'familial leiomyomatosis' EquivalentTo 'leiomyomatosis' and ('has modifier' some 'inherited') 'familial leiomyomatosis' SubClassOf 'Genetic soft tissue tumor' 'familial leiomyomatosis' SubClassOf 'leiomyomatosis' http://purl.obolibrary.org/obo/MONDO_0023644 lip and oral cavity carcinoma 'lip and oral cavity carcinoma' SubClassOf 'head and neck carcinoma' http://purl.obolibrary.org/obo/MONDO_0021002 syndactyly (disease) 'syndactyly (disease)' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' http://purl.obolibrary.org/obo/MONDO_0021003 polydactyly (disease) 'polydactyly (disease)' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' 'polydactyly (disease)' SubClassOf 'congenital abnormality' http://purl.obolibrary.org/obo/MONDO_0021004 brachydactyly (disease) 'brachydactyly (disease)' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' http://purl.obolibrary.org/obo/MONDO_0021005 faciodigitogenital syndrome 'faciodigitogenital syndrome' SubClassOf 'Syndromic urogenital tract malformation' 'faciodigitogenital syndrome' SubClassOf 'Genetic malformation syndrome with short stature' http://purl.obolibrary.org/obo/MONDO_0011679 craniosynostosis syndrome, autosomal recessive 'craniosynostosis syndrome, autosomal recessive' SubClassOf 'autosomal recessive disease' 'craniosynostosis syndrome, autosomal recessive' SubClassOf 'Craniosynostosis' http://purl.obolibrary.org/obo/MONDO_0021009 salivary gland mucoepidermoid carcinoma 'salivary gland mucoepidermoid carcinoma' SubClassOf 'oral cavity mucoepidermoid carcinoma' 'salivary gland mucoepidermoid carcinoma' SubClassOf 'salivary gland carcinoma' http://purl.obolibrary.org/obo/UBERON_0002836 lumbar dorsal root ganglion 'lumbar dorsal root ganglion' SubClassOf 'dorsal root ganglion' http://purl.obolibrary.org/obo/UBERON_0002837 sacral dorsal root ganglion 'sacral dorsal root ganglion' SubClassOf 'dorsal root ganglion' http://purl.obolibrary.org/obo/UBERON_0002838 first cervical dorsal root ganglion 'first cervical dorsal root ganglion' SubClassOf 'cervical dorsal root ganglion' http://purl.obolibrary.org/obo/UBERON_0002839 second cervical dorsal root ganglion 'second cervical dorsal root ganglion' SubClassOf 'cervical dorsal root ganglion' http://purl.obolibrary.org/obo/MONDO_0021024 malaria, susceptibility to 'malaria, susceptibility to' SubClassOf 'Genetic susceptibility to infections due to particular pathogens' 'malaria, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'malaria') 'malaria, susceptibility to' SubClassOf 'predisposes towards' some 'malaria' http://purl.obolibrary.org/obo/UBERON_0002834 cervical dorsal root ganglion 'cervical dorsal root ganglion' SubClassOf 'dorsal root ganglion' http://purl.obolibrary.org/obo/UBERON_0002835 thoracic dorsal root ganglion 'thoracic dorsal root ganglion' SubClassOf 'thoracic ganglion' 'thoracic dorsal root ganglion' SubClassOf 'dorsal root ganglion' http://purl.obolibrary.org/obo/UBERON_0002847 third thoracic dorsal root ganglion 'third thoracic dorsal root ganglion' SubClassOf 'thoracic dorsal root ganglion' http://purl.obolibrary.org/obo/UBERON_0002848 fifth thoracic dorsal root ganglion 'fifth thoracic dorsal root ganglion' SubClassOf 'thoracic dorsal root ganglion' http://purl.obolibrary.org/obo/UBERON_0002849 sixth thoracic dorsal root ganglion 'sixth thoracic dorsal root ganglion' SubClassOf 'thoracic dorsal root ganglion' http://purl.obolibrary.org/obo/UBERON_0002843 seventh cervical dorsal root ganglion 'seventh cervical dorsal root ganglion' SubClassOf 'cervical dorsal root ganglion' http://purl.obolibrary.org/obo/UBERON_0002844 eighth cervical dorsal root ganglion 'eighth cervical dorsal root ganglion' SubClassOf 'cervical dorsal root ganglion' http://purl.obolibrary.org/obo/UBERON_0002845 first thoracic dorsal root ganglion 'first thoracic dorsal root ganglion' SubClassOf 'thoracic dorsal root ganglion' http://purl.obolibrary.org/obo/MONDO_0021016 channelopathy 'channelopathy' SubClassOf 'disease of transporter activity' http://purl.obolibrary.org/obo/UBERON_0002846 second thoracic dorsal root ganglion 'second thoracic dorsal root ganglion' SubClassOf 'thoracic dorsal root ganglion' http://purl.obolibrary.org/obo/MONDO_0045002 vertebral disease 'vertebral disease' SubClassOf 'vertebral column disease' http://purl.obolibrary.org/obo/MONDO_0045001 cardiac ventricle disease 'cardiac ventricle disease' SubClassOf 'heart disease' http://purl.obolibrary.org/obo/MONDO_0045008 cholesterol metabolism disease 'cholesterol metabolism disease' SubClassOf 'Sterol metabolism disorder' http://purl.obolibrary.org/obo/MONDO_0021017 synaptopathy 'synaptopathy' SubClassOf 'disease by cellular component affected' http://purl.obolibrary.org/obo/UBERON_0002840 third cervical dorsal root ganglion 'third cervical dorsal root ganglion' SubClassOf 'cervical dorsal root ganglion' http://purl.obolibrary.org/obo/UBERON_0002841 fourth cervical dorsal root ganglion 'fourth cervical dorsal root ganglion' SubClassOf 'cervical dorsal root ganglion' http://purl.obolibrary.org/obo/UBERON_0002842 fifth cervical dorsal root ganglion 'fifth cervical dorsal root ganglion' SubClassOf 'cervical dorsal root ganglion' http://purl.obolibrary.org/obo/UBERON_0002858 third lumbar dorsal root ganglion 'third lumbar dorsal root ganglion' SubClassOf 'lumbar dorsal root ganglion' http://purl.obolibrary.org/obo/MONDO_0021043 mixed neoplasm 'mixed neoplasm' SubClassOf 'neoplasm' http://purl.obolibrary.org/obo/UBERON_0002859 fifth lumbar dorsal root ganglion 'fifth lumbar dorsal root ganglion' SubClassOf 'lumbar dorsal root ganglion' http://purl.obolibrary.org/obo/MONDO_0021046 breast fibroepithelial neoplasm 'breast fibroepithelial neoplasm' SubClassOf 'fibroepithelial neoplasm' 'breast fibroepithelial neoplasm' SubClassOf 'breast neoplasm' http://purl.obolibrary.org/obo/UBERON_0002854 eleventh thoracic dorsal root ganglion 'eleventh thoracic dorsal root ganglion' SubClassOf 'thoracic dorsal root ganglion' http://purl.obolibrary.org/obo/MONDO_0021047 breast phyllodes tumor 'breast phyllodes tumor' SubClassOf 'breast fibroepithelial neoplasm' 'breast phyllodes tumor' SubClassOf 'phyllodes tumor' http://purl.obolibrary.org/obo/UBERON_0002855 twelfth thoracic dorsal root ganglion 'twelfth thoracic dorsal root ganglion' SubClassOf 'thoracic dorsal root ganglion' http://purl.obolibrary.org/obo/UBERON_0002856 second lumbar dorsal root ganglion 'second lumbar dorsal root ganglion' SubClassOf 'lumbar dorsal root ganglion' http://purl.obolibrary.org/obo/MONDO_0021049 vulvar neoplasm 'vulvar neoplasm' SubClassOf 'vulvar disease' 'vulvar neoplasm' SubClassOf 'female reproductive system neoplasm' http://purl.obolibrary.org/obo/UBERON_0002857 first lumbar dorsal root ganglion 'first lumbar dorsal root ganglion' SubClassOf 'lumbar dorsal root ganglion' http://purl.obolibrary.org/obo/UBERON_0014842 puboischiofemoralis muscle 'puboischiofemoralis muscle' SubClassOf 'skeletal muscle organ' http://purl.obolibrary.org/obo/UBERON_0014840 supracoracoideus muscle 'supracoracoideus muscle' SubClassOf 'muscle of shoulder' 'supracoracoideus muscle' SubClassOf 'muscle of pectoral girdle' http://purl.obolibrary.org/obo/UBERON_0014847 vastus intermedius 'vastus intermedius' SubClassOf 'quadriceps femoris' http://purl.obolibrary.org/obo/UBERON_0002850 seventh thoracic dorsal root ganglion 'seventh thoracic dorsal root ganglion' SubClassOf 'thoracic dorsal root ganglion' http://purl.obolibrary.org/obo/UBERON_0002851 eighth thoracic dorsal root ganglion 'eighth thoracic dorsal root ganglion' SubClassOf 'thoracic dorsal root ganglion' http://purl.obolibrary.org/obo/UBERON_0002852 ninth thoracic dorsal root ganglion 'ninth thoracic dorsal root ganglion' SubClassOf 'thoracic dorsal root ganglion' http://purl.obolibrary.org/obo/UBERON_0002853 tenth thoracic dorsal root ganglion 'tenth thoracic dorsal root ganglion' SubClassOf 'thoracic dorsal root ganglion' http://purl.obolibrary.org/obo/MONDO_0021034 genetic alopecia 'genetic alopecia' SubClassOf 'Genetic hair anomaly' 'genetic alopecia' SubClassOf 'Alopecia' 'genetic alopecia' SubClassOf 'hypotrichosis' 'genetic alopecia' EquivalentTo 'Alopecia' and ('has modifier' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0021036 keratosis pilaris 'keratosis pilaris' SubClassOf 'skin disease' http://purl.obolibrary.org/obo/UBERON_0000209 tetrapod frontal bone 'tetrapod frontal bone' SubClassOf 'intramembranous bone' 'tetrapod frontal bone' SubClassOf 'flat bone' 'tetrapod frontal bone' SubClassOf 'neurocranium bone' 'tetrapod frontal bone' SubClassOf 'dermal bone' http://purl.obolibrary.org/obo/MONDO_0021038 Ewing sarcoma/peripheral primitive neuroectodermal tumor 'Ewing sarcoma/peripheral primitive neuroectodermal tumor' SubClassOf 'embryonal neoplasm' http://purl.obolibrary.org/obo/UBERON_0014838 xiphihumeralis 'xiphihumeralis' SubClassOf 'pectoral muscle' http://purl.obolibrary.org/obo/UBERON_0014837 pectoantebrachialis 'pectoantebrachialis' SubClassOf 'pectoral muscle' http://purl.obolibrary.org/obo/UBERON_0002861 second sacral dorsal root ganglion 'second sacral dorsal root ganglion' SubClassOf 'sacral dorsal root ganglion' http://purl.obolibrary.org/obo/UBERON_0002862 third sacral dorsal root ganglion 'third sacral dorsal root ganglion' SubClassOf 'sacral dorsal root ganglion' http://purl.obolibrary.org/obo/UBERON_0002863 fifth sacral dorsal root ganglion 'fifth sacral dorsal root ganglion' SubClassOf 'sacral dorsal root ganglion' http://purl.obolibrary.org/obo/UBERON_0000201 endothelial blood brain barrier 'endothelial blood brain barrier' SubClassOf 'endothelium' http://purl.obolibrary.org/obo/UBERON_0002860 first sacral dorsal root ganglion 'first sacral dorsal root ganglion' SubClassOf 'sacral dorsal root ganglion' http://purl.obolibrary.org/obo/MONDO_0021064 jugulotympanic paraganglioma 'jugulotympanic paraganglioma' SubClassOf 'Head and Neck Paraganglioma' 'jugulotympanic paraganglioma' SubClassOf 'skull base neoplasm' 'jugulotympanic paraganglioma' SubClassOf 'parasympathetic paraganglioma' 'jugulotympanic paraganglioma' SubClassOf 'glomus jugulare neoplasm' 'jugulotympanic paraganglioma' SubClassOf 'vascular bone neoplasm' 'jugulotympanic paraganglioma' SubClassOf 'neurovascular disease' http://purl.obolibrary.org/obo/MONDO_0045031 infectious diarrheal disease 'infectious diarrheal disease' EquivalentTo 'diarrheal disease' and 'infectious disease' 'infectious diarrheal disease' SubClassOf 'diarrheal disease' 'infectious diarrheal disease' SubClassOf 'digestive system infectious disease' http://purl.obolibrary.org/obo/MONDO_0021065 pleural neoplasm 'pleural neoplasm' SubClassOf 'pleural disease' 'pleural neoplasm' SubClassOf 'respiratory tract neoplasm' http://purl.obolibrary.org/obo/MONDO_0045032 congenital secretory diarrhea 'congenital secretory diarrhea' SubClassOf 'congenital diarrhea' http://purl.obolibrary.org/obo/MONDO_0021066 urinary system neoplasm 'urinary system neoplasm' SubClassOf 'urogenital neoplasm' 'urinary system neoplasm' SubClassOf 'urinary system disease' 'urinary system neoplasm' SubClassOf 'neoplasm' http://purl.obolibrary.org/obo/MONDO_0021067 mediastinal germ cell tumor 'mediastinal germ cell tumor' SubClassOf 'neoplasm of mediastinum' 'mediastinal germ cell tumor' SubClassOf 'extragonadal germ cell tumor' http://purl.obolibrary.org/obo/MONDO_0021069 malignant endocrine neoplasm 'malignant endocrine neoplasm' SubClassOf 'cancer' 'malignant endocrine neoplasm' SubClassOf 'endocrine gland neoplasm' http://purl.obolibrary.org/obo/MONDO_0045035 opportunistic infectious 'opportunistic infectious' SubClassOf 'infectious disease characteristic' http://purl.obolibrary.org/obo/MONDO_0045036 primary infectious 'primary infectious' SubClassOf 'infectious disease characteristic' http://purl.obolibrary.org/obo/MONDO_0045033 opportunistic systemic mycosis 'opportunistic systemic mycosis' SubClassOf 'systemic mycosis' 'opportunistic systemic mycosis' EquivalentTo 'systemic mycosis' and ('has modifier' some 'opportunistic infectious') 'opportunistic systemic mycosis' SubClassOf 'opportunistic mycosis' http://purl.obolibrary.org/obo/MONDO_0021063 malignant colon neoplasm 'malignant colon neoplasm' SubClassOf 'colonic neoplasm' 'malignant colon neoplasm' SubClassOf 'colorectal cancer' http://purl.obolibrary.org/obo/MONDO_0045034 infectious disease characteristic 'infectious disease characteristic' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0008093 nevus, epidermal 'nevus, epidermal' SubClassOf 'Genetic skin tumor' 'nevus, epidermal' SubClassOf 'melanocytic nevus' http://purl.obolibrary.org/obo/MONDO_0021053 carotid body paraganglioma 'carotid body paraganglioma' SubClassOf 'arterial disorder' 'carotid body paraganglioma' SubClassOf 'neurovascular disease' 'carotid body paraganglioma' SubClassOf 'parasympathetic paraganglioma' 'carotid body paraganglioma' SubClassOf 'Head and Neck Paraganglioma' 'carotid body paraganglioma' SubClassOf 'blood vessel neoplasm' http://purl.obolibrary.org/obo/MONDO_0045042 localized 'localized' SubClassOf 'locational disease characteristic' http://purl.obolibrary.org/obo/UBERON_0002803 right parietal lobe 'right parietal lobe' SubClassOf 'parietal lobe' http://purl.obolibrary.org/obo/MONDO_0021054 bone sarcoma 'bone sarcoma' SubClassOf 'bone cancer' 'bone sarcoma' SubClassOf 'sarcoma' http://purl.obolibrary.org/obo/MONDO_0045043 disease of uterine broad ligament 'disease of uterine broad ligament' SubClassOf 'ligament disease' http://purl.obolibrary.org/obo/MONDO_0045040 locational disease characteristic 'locational disease characteristic' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/UBERON_0002806 left occipital lobe 'left occipital lobe' SubClassOf 'occipital lobe' http://purl.obolibrary.org/obo/MONDO_0021057 classic or attenuated familial adenomatous polyposis 'classic or attenuated familial adenomatous polyposis' SubClassOf 'Genetic intestinal polyposis' 'classic or attenuated familial adenomatous polyposis' SubClassOf 'intestinal polyposis syndrome' http://purl.obolibrary.org/obo/MONDO_0021058 neoplastic syndrome 'neoplastic syndrome' SubClassOf 'disease has major feature' some 'neoplasm' 'neoplastic syndrome' SubClassOf 'syndromic disease' 'neoplastic syndrome' EquivalentTo 'syndromic disease' and ('disease has major feature' some 'neoplasm') 'neoplastic syndrome' SubClassOf 'neoplastic disease or syndrome' 'neoplastic syndrome' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/UBERON_0002802 left parietal lobe 'left parietal lobe' SubClassOf 'parietal lobe' http://purl.obolibrary.org/obo/MONDO_0045048 toxemia of pregnancy 'toxemia of pregnancy' SubClassOf 'hypertension, pregnancy-induced' http://purl.obolibrary.org/obo/MONDO_0045046 inherited thyroid metabolism disease 'inherited thyroid metabolism disease' SubClassOf 'Inborn errors of metabolism' 'inherited thyroid metabolism disease' SubClassOf 'thyroid disease' http://purl.obolibrary.org/obo/UBERON_0002807 right occipital lobe 'right occipital lobe' SubClassOf 'occipital lobe' http://purl.obolibrary.org/obo/UBERON_0002808 left temporal lobe 'left temporal lobe' SubClassOf 'temporal lobe' http://purl.obolibrary.org/obo/MONDO_0045044 ligament disease 'ligament disease' SubClassOf 'musculoskeletal system disease' http://purl.obolibrary.org/obo/UBERON_0002809 right temporal lobe 'right temporal lobe' SubClassOf 'temporal lobe' http://purl.obolibrary.org/obo/MONDO_0021052 parasympathetic paraganglioma 'parasympathetic paraganglioma' SubClassOf 'Paraganglioma' 'parasympathetic paraganglioma' SubClassOf 'parasympathetic nervous system disease' http://purl.obolibrary.org/obo/MONDO_0021086 gingival neoplasm 'gingival neoplasm' SubClassOf 'gingival disease' 'gingival neoplasm' SubClassOf 'odontogenic neoplasm' http://purl.obolibrary.org/obo/MONDO_0045010 glycoprotein metabolism disease 'glycoprotein metabolism disease' SubClassOf 'Inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0021089 peripheral nervous system cancer 'peripheral nervous system cancer' SubClassOf 'tumour of cranial and spinal nerves' 'peripheral nervous system cancer' SubClassOf 'nervous system cancer' 'peripheral nervous system cancer' SubClassOf 'peripheral nervous system neoplasm' http://purl.obolibrary.org/obo/UBERON_0002810 right frontal lobe 'right frontal lobe' SubClassOf 'frontal cortex' http://purl.obolibrary.org/obo/UBERON_0002811 left frontal lobe 'left frontal lobe' SubClassOf 'frontal cortex' http://purl.obolibrary.org/obo/UBERON_0002812 left cerebral hemisphere 'left cerebral hemisphere' SubClassOf 'cerebral hemisphere' http://purl.obolibrary.org/obo/UBERON_0002813 right cerebral hemisphere 'right cerebral hemisphere' SubClassOf 'cerebral hemisphere' http://purl.obolibrary.org/obo/MONDO_0045017 cholesterol biosynthetic process disease 'cholesterol biosynthetic process disease' SubClassOf 'cholesterol metabolism disease' 'cholesterol biosynthetic process disease' SubClassOf 'Sterol biosynthesis disorder' http://purl.obolibrary.org/obo/MONDO_0045018 creatine biosynthetic process disease 'creatine biosynthetic process disease' SubClassOf 'amino acid metabolism disease' http://purl.obolibrary.org/obo/MONDO_0045015 carbohydrate transport disease 'carbohydrate transport disease' SubClassOf 'carbohydrate metabolism disease' http://purl.obolibrary.org/obo/MONDO_0021080 blood vessel neoplasm 'blood vessel neoplasm' SubClassOf 'vascular neoplasm' 'blood vessel neoplasm' SubClassOf 'vascular disease' http://purl.obolibrary.org/obo/MONDO_0045016 cholesterol catabolic process disease 'cholesterol catabolic process disease' SubClassOf 'cholesterol metabolism disease' http://purl.obolibrary.org/obo/MONDO_0045013 disease of extraembryonic membrane 'disease of extraembryonic membrane' SubClassOf 'placenta disease' http://purl.obolibrary.org/obo/MONDO_0045014 tetrahydrobiopterin metabolic process disease 'tetrahydrobiopterin metabolic process disease' SubClassOf 'Disorder of phenylalanine metabolism' http://purl.obolibrary.org/obo/MONDO_0021084 vision disorder 'vision disorder' SubClassOf 'perceptual disorders' 'vision disorder' SubClassOf 'disease of visual system' http://purl.obolibrary.org/obo/MONDO_0045011 keratinization disease 'keratinization disease' SubClassOf 'integumentary system disease' 'keratinization disease' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0021085 gastric neoplasm 'gastric neoplasm' SubClassOf 'stomach neoplasm' 'gastric neoplasm' SubClassOf 'digestive system neoplasm' 'gastric neoplasm' SubClassOf 'stomach disease' http://purl.obolibrary.org/obo/MONDO_0045012 steroid metabolism disease 'steroid metabolism disease' SubClassOf 'nutritional or metabolic disease' 'steroid metabolism disease' SubClassOf 'metabolic disease' http://purl.obolibrary.org/obo/UBERON_0014800 spinotrapezius muscle 'spinotrapezius muscle' SubClassOf 'trapezius muscle' 'spinotrapezius muscle' SubClassOf 'scapular muscle' http://purl.obolibrary.org/obo/MONDO_0021075 neoplastic polyp 'neoplastic polyp' SubClassOf 'precancerous condition' 'neoplastic polyp' SubClassOf 'polyp' http://purl.obolibrary.org/obo/MONDO_0045020 glycine metabolism disease 'glycine metabolism disease' SubClassOf 'amino acid metabolism disease' http://purl.obolibrary.org/obo/MONDO_0021076 pancreatic exocrine neoplasm 'pancreatic exocrine neoplasm' SubClassOf 'pancreatic neoplasm' http://purl.obolibrary.org/obo/MONDO_0021077 cystic neoplasm 'cystic neoplasm' SubClassOf 'neoplasm' http://purl.obolibrary.org/obo/MONDO_0021078 glandular papilloma 'glandular papilloma' SubClassOf 'papilloma' 'glandular papilloma' EquivalentTo 'papilloma' and 'glandular cell neoplasm' 'glandular papilloma' SubClassOf 'glandular cell neoplasm' http://purl.obolibrary.org/obo/MONDO_0021079 childhood neoplasm 'childhood neoplasm' SubClassOf 'neoplasm' http://purl.obolibrary.org/obo/UBERON_0002824 vestibular ganglion 'vestibular ganglion' SubClassOf 'ganglion of peripheral nervous system' 'vestibular ganglion' SubClassOf 'sensory ganglion' 'vestibular ganglion' SubClassOf 'cranial ganglion' http://purl.obolibrary.org/obo/MONDO_0045028 radiation or chemically induced disorder 'radiation or chemically induced disorder' EquivalentTo 'chemically-induced disorder' or 'radiation-induced disorder' 'radiation or chemically induced disorder' SubClassOf 'disease' http://purl.obolibrary.org/obo/MONDO_0045024 cell proliferation disorder 'cell proliferation disorder' EquivalentTo 'precancerous condition' or 'neoplastic disease or syndrome' or 'cancer-related condition' or 'hyperplasia' 'cell proliferation disorder' SubClassOf 'disease' http://purl.obolibrary.org/obo/MONDO_0021072 sympathetic paraganglioma 'sympathetic paraganglioma' SubClassOf 'Paraganglioma' 'sympathetic paraganglioma' SubClassOf 'epithelial neoplasm' 'sympathetic paraganglioma' SubClassOf 'sympathetic nervous system disease' http://purl.obolibrary.org/obo/MONDO_0021073 paraneoplastic syndrome 'paraneoplastic syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0045022 disorder of organic acid metabolism 'disorder of organic acid metabolism' SubClassOf 'metabolic disease' 'disorder of organic acid metabolism' SubClassOf 'nutritional or metabolic disease' http://purl.obolibrary.org/obo/MONDO_0021074 precancerous condition 'precancerous condition' SubClassOf 'cell proliferation disorder' http://purl.obolibrary.org/obo/MONDO_0045023 acquired adrenogenital syndrome 'acquired adrenogenital syndrome' EquivalentTo 'Adrenogenital syndrome' and ('has modifier' some 'acquired') 'acquired adrenogenital syndrome' SubClassOf 'acquired metabolic disease' 'acquired adrenogenital syndrome' SubClassOf 'Adrenogenital syndrome' http://purl.obolibrary.org/obo/UBERON_0000019 camera-type eye 'camera-type eye' SubClassOf 'simple eye' http://purl.obolibrary.org/obo/UBERON_0000018 compound eye 'compound eye' SubClassOf 'multi-unit eye' http://purl.obolibrary.org/obo/UBERON_0000017 exocrine pancreas 'exocrine pancreas' SubClassOf 'serous gland' http://purl.obolibrary.org/obo/UBERON_0014668 distal interphalangeal joint of manual digit 2 'distal interphalangeal joint of manual digit 2' SubClassOf 'distal interphalangeal joint of digit 2' 'distal interphalangeal joint of manual digit 2' SubClassOf 'interphalangeal joint of manual digit 2' http://purl.obolibrary.org/obo/UBERON_0000024 forelimb wing 'forelimb wing' SubClassOf 'wing' 'forelimb wing' SubClassOf 'forelimb' http://purl.obolibrary.org/obo/UBERON_0014680 distal interphalangeal joint of digit 5 'distal interphalangeal joint of digit 5' SubClassOf 'distal interphalangeal joint' http://purl.obolibrary.org/obo/UBERON_0014685 pterygoid plexus 'pterygoid plexus' SubClassOf 'cranial blood vasculature' 'pterygoid plexus' SubClassOf 'venous plexus' http://purl.obolibrary.org/obo/UBERON_0014686 angular vein 'angular vein' SubClassOf 'neck blood vessel' 'angular vein' SubClassOf 'craniocervical region vein' 'angular vein' SubClassOf 'head blood vessel' http://purl.obolibrary.org/obo/UBERON_0000049 spherical lensed eye 'spherical lensed eye' SubClassOf 'simple eye' http://purl.obolibrary.org/obo/UBERON_0014670 distal interphalangeal joint of manual digit 4 'distal interphalangeal joint of manual digit 4' SubClassOf 'interphalangeal joint of manual digit 4' 'distal interphalangeal joint of manual digit 4' SubClassOf 'distal interphalangeal joint of digit 4' http://purl.obolibrary.org/obo/UBERON_0014674 distal interphalangeal joint of pedal digit 4 'distal interphalangeal joint of pedal digit 4' SubClassOf 'interphalangeal joint of pedal digit 4' 'distal interphalangeal joint of pedal digit 4' SubClassOf 'distal interphalangeal joint of digit 4' http://purl.obolibrary.org/obo/UBERON_0014672 distal interphalangeal joint of pedal digit 2 'distal interphalangeal joint of pedal digit 2' SubClassOf 'interphalangeal joint of pedal digit 2' 'distal interphalangeal joint of pedal digit 2' SubClassOf 'distal interphalangeal joint of digit 2' http://purl.obolibrary.org/obo/UBERON_0014671 distal interphalangeal joint of manural digit 5 'distal interphalangeal joint of manural digit 5' SubClassOf 'distal interphalangeal joint of digit 5' 'distal interphalangeal joint of manural digit 5' SubClassOf 'interphalangeal joint of manual digit 5' http://purl.obolibrary.org/obo/UBERON_0014677 distal interphalangeal joint of digit 2 'distal interphalangeal joint of digit 2' SubClassOf 'distal interphalangeal joint' http://purl.obolibrary.org/obo/UBERON_0014675 distal interphalangeal joint of pedal digit 5 'distal interphalangeal joint of pedal digit 5' SubClassOf 'distal interphalangeal joint of digit 5' 'distal interphalangeal joint of pedal digit 5' SubClassOf 'interphalangeal joint of pedal digit 5' http://purl.obolibrary.org/obo/UBERON_0014679 distal interphalangeal joint of digit 4 'distal interphalangeal joint of digit 4' SubClassOf 'distal interphalangeal joint' http://purl.obolibrary.org/obo/UBERON_0000041 odontode scale 'odontode scale' SubClassOf 'dermal scale' http://purl.obolibrary.org/obo/UBERON_0000048 pinhole eye 'pinhole eye' SubClassOf 'simple eye' http://purl.obolibrary.org/obo/UBERON_0000047 simple eye 'simple eye' SubClassOf 'eye' http://purl.obolibrary.org/obo/UBERON_0000046 stemma 'stemma' SubClassOf 'simple eye' http://purl.obolibrary.org/obo/UBERON_0002655 body of lateral ventricle 'body of lateral ventricle' SubClassOf 'telencephalic ventricle' http://purl.obolibrary.org/obo/UBERON_0002651 anterior horn of lateral ventricle 'anterior horn of lateral ventricle' SubClassOf 'telencephalic ventricle' 'anterior horn of lateral ventricle' DisjointWith 'posterior horn lateral ventricle' http://purl.obolibrary.org/obo/UBERON_0012088 lateroobronchus 'lateroobronchus' SubClassOf 'bronchus' http://purl.obolibrary.org/obo/UBERON_6004203 adult clypeo-labral anlage 'adult clypeo-labral anlage' SubClassOf 'anlage' 'adult clypeo-labral anlage' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0000091 bilaminar disc 'bilaminar disc' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0012070 palatal tooth 'palatal tooth' SubClassOf 'tooth of upper jaw' http://purl.obolibrary.org/obo/UBERON_0012073 tooth of palatine bone 'tooth of palatine bone' SubClassOf 'palatal tooth' http://purl.obolibrary.org/obo/UBERON_0012071 palate bone 'palate bone' SubClassOf 'head bone' 'palate bone' SubClassOf 'dermal bone' http://purl.obolibrary.org/obo/UBERON_0036066 inferior endocardial cushion 'inferior endocardial cushion' SubClassOf 'endocardial cushion' http://purl.obolibrary.org/obo/UBERON_0036067 superior endocardial cushion 'superior endocardial cushion' SubClassOf 'endocardial cushion' http://purl.obolibrary.org/obo/UBERON_0012075 replacement bone 'replacement bone' SubClassOf 'bone' http://purl.obolibrary.org/obo/UBERON_0012076 tibiotalar joint 'tibiotalar joint' SubClassOf 'crurotarsal joint' http://purl.obolibrary.org/obo/UBERON_0036069 tracheoesophageal fold 'tracheoesophageal fold' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0000050 simple eye with multiple lenses 'simple eye with multiple lenses' SubClassOf 'simple eye' http://purl.obolibrary.org/obo/UBERON_0014692 superficial epigastric vein 'superficial epigastric vein' SubClassOf 'lower leg blood vessel' 'superficial epigastric vein' SubClassOf 'superficial vein' 'superficial epigastric vein' SubClassOf 'epigastric vein' http://purl.obolibrary.org/obo/UBERON_0014691 right gastric vein 'right gastric vein' SubClassOf 'gastric vein' http://purl.obolibrary.org/obo/UBERON_0014690 left gastric vein 'left gastric vein' SubClassOf 'gastric vein' http://purl.obolibrary.org/obo/UBERON_0014696 anterior choroidal artery 'anterior choroidal artery' SubClassOf 'choroidal artery' 'anterior choroidal artery' DisjointWith 'posterior choroidal artery' 'anterior choroidal artery' SubClassOf 'systemic artery' 'anterior choroidal artery' SubClassOf 'head blood vessel' http://purl.obolibrary.org/obo/UBERON_0014695 deep auricular artery 'deep auricular artery' SubClassOf 'auricular artery' http://purl.obolibrary.org/obo/UBERON_0014694 posterior auricular artery 'posterior auricular artery' SubClassOf 'branch of external carotid artery' 'posterior auricular artery' SubClassOf 'auricular artery' http://purl.obolibrary.org/obo/UBERON_0014693 inferior alveolar artery 'inferior alveolar artery' SubClassOf 'alveolar artery' http://purl.obolibrary.org/obo/UBERON_0014699 extraembryonic venous system 'extraembryonic venous system' SubClassOf 'venous system' 'extraembryonic venous system' SubClassOf 'extraembryonic vascular system' http://purl.obolibrary.org/obo/UBERON_0014697 posterior choroidal artery 'anterior choroidal artery' DisjointWith 'posterior choroidal artery' 'posterior choroidal artery' SubClassOf 'choroidal artery' 'posterior choroidal artery' SubClassOf 'branch of posterior cerebral artery' http://purl.obolibrary.org/obo/UBERON_0012063 lobar bronchus of right lung middle lobe 'lobar bronchus of right lung middle lobe' SubClassOf 'lobar bronchus of right lung' http://purl.obolibrary.org/obo/UBERON_0012066 lobar bronchus of left lung lower lobe 'lobar bronchus of left lung lower lobe' SubClassOf 'lobar bronchus of left lung' http://purl.obolibrary.org/obo/UBERON_0012067 primary bronchiole 'primary bronchiole' SubClassOf 'bronchiole' http://purl.obolibrary.org/obo/UBERON_0012065 lobar bronchus of left lung upper lobe 'lobar bronchus of left lung upper lobe' SubClassOf 'lobar bronchus of left lung' http://purl.obolibrary.org/obo/UBERON_0012068 right lung middle lobe bronchiole 'right lung middle lobe bronchiole' SubClassOf 'right lung bronchiole' http://purl.obolibrary.org/obo/UBERON_0012069 epithelium-associated lymphoid tissue 'epithelium-associated lymphoid tissue' SubClassOf 'lymphoid tissue' http://purl.obolibrary.org/obo/UBERON_0000076 external ectoderm 'external ectoderm' SubClassOf 'unilaminar epithelium' http://purl.obolibrary.org/obo/UBERON_0012055 left lung lower lobe bronchiole 'left lung lower lobe bronchiole' SubClassOf 'left lung bronchiole' http://purl.obolibrary.org/obo/UBERON_0012056 left lung upper lobe bronchiole 'left lung upper lobe bronchiole' SubClassOf 'left lung bronchiole' http://purl.obolibrary.org/obo/UBERON_0012059 right lung lower lobe bronchiole 'right lung lower lobe bronchiole' SubClassOf 'right lung bronchiole' http://purl.obolibrary.org/obo/UBERON_0000084 ureteric bud 'ureteric bud' SubClassOf 'epithelial layer of duct' 'ureteric bud' SubClassOf 'mesonephric tubule' 'ureteric bud' SubClassOf 'epithelial sac' http://purl.obolibrary.org/obo/UBERON_0000083 mesonephric tubule 'mesonephric tubule' SubClassOf 'epithelial tube' 'mesonephric tubule' SubClassOf 'mesonephric epithelium' http://purl.obolibrary.org/obo/UBERON_0000082 adult mammalian kidney 'adult mammalian kidney' SubClassOf 'kidney' http://purl.obolibrary.org/obo/UBERON_0000081 metanephros 'metanephros' SubClassOf 'kidney' http://purl.obolibrary.org/obo/UBERON_0000088 trophoblast 'trophoblast' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0000085 morula 'morula' SubClassOf 'embryo' http://purl.obolibrary.org/obo/UBERON_0036071 diaphragmaticus muscle 'diaphragmaticus muscle' SubClassOf 'thoracic segment muscle' http://purl.obolibrary.org/obo/UBERON_0036072 respiratory primordium epithelium 'respiratory primordium epithelium' SubClassOf 'foregut epithelium' 'respiratory primordium epithelium' SubClassOf 'epithelial sac' 'respiratory primordium epithelium' SubClassOf 'endo-epithelium' http://purl.obolibrary.org/obo/UBERON_0036074 vein of vestibular aqueduct 'vein of vestibular aqueduct' SubClassOf 'craniocervical region vein' 'vein of vestibular aqueduct' SubClassOf 'head blood vessel' 'vein of vestibular aqueduct' SubClassOf 'neck blood vessel' http://purl.obolibrary.org/obo/UBERON_0014703 anal membrane ectodermal component 'anal membrane ectodermal component' SubClassOf 'ecto-epithelium' 'anal membrane ectodermal component' SubClassOf 'unilaminar epithelium' http://purl.obolibrary.org/obo/UBERON_0014702 frontonasal process epithelium 'frontonasal process epithelium' SubClassOf 'unilaminar epithelium' 'frontonasal process epithelium' SubClassOf 'ecto-epithelium' http://purl.obolibrary.org/obo/UBERON_0014701 extraembryonic vascular system 'extraembryonic vascular system' SubClassOf 'anatomical system' http://purl.obolibrary.org/obo/MONDO_0011577 myopathy, proximal, and ophthalmoplegia 'myopathy, proximal, and ophthalmoplegia' SubClassOf 'inclusion body myositis' http://purl.obolibrary.org/obo/UBERON_0014708 costal plate of carapace 'costal plate of carapace' SubClassOf 'carapace bone' http://purl.obolibrary.org/obo/UBERON_0014707 hyoplastron 'hyoplastron' SubClassOf 'dermal element of plastron' http://purl.obolibrary.org/obo/UBERON_0014706 primitive renal collecting duct system 'primitive renal collecting duct system' SubClassOf 'arborizing epithelial duct system' 'primitive renal collecting duct system' SubClassOf 'meso-epithelium' http://purl.obolibrary.org/obo/UBERON_0014705 median lingual swelling epithelium 'median lingual swelling epithelium' SubClassOf 'endo-epithelium' 'median lingual swelling epithelium' SubClassOf 'digestive tract epithelium' 'median lingual swelling epithelium' SubClassOf 'unilaminar epithelium' http://purl.obolibrary.org/obo/UBERON_0014709 carapace primordium 'carapace primordium' SubClassOf 'presumptive structure' http://purl.obolibrary.org/obo/MONDO_0023557 infective vaginitis 'infective vaginitis' SubClassOf 'infectious disease' 'infective vaginitis' SubClassOf 'vaginitis (disease)' http://purl.obolibrary.org/obo/MONDO_0011583 cerebral amyloid angiopathy, APP-related 'cerebral amyloid angiopathy, APP-related' SubClassOf 'cerebral amyloid angiopathy' http://purl.obolibrary.org/obo/UBERON_0014710 carapacial ridge 'carapacial ridge' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0014712 carapacial ridge ectoderm 'carapacial ridge ectoderm' SubClassOf 'ecto-epithelium' http://purl.obolibrary.org/obo/UBERON_0002513 endochondral bone 'endochondral bone' SubClassOf 'bone' http://purl.obolibrary.org/obo/UBERON_0002514 intramembranous bone 'intramembranous bone' SubClassOf 'bone' http://purl.obolibrary.org/obo/UBERON_0014502 proximal phalanx of digit 2 'proximal phalanx of digit 2' SubClassOf 'proximal phalanx' http://purl.obolibrary.org/obo/UBERON_0014501 proximal phalanx of digit 1 'proximal phalanx of digit 1' SubClassOf 'proximal phalanx' http://purl.obolibrary.org/obo/UBERON_0014506 distal interphalangeal joint of digit 3 'distal interphalangeal joint of digit 3' SubClassOf 'distal interphalangeal joint' http://purl.obolibrary.org/obo/UBERON_0014505 proximal phalanx of digit 5 'proximal phalanx of digit 5' SubClassOf 'proximal phalanx' http://purl.obolibrary.org/obo/UBERON_0014504 proximal phalanx of digit 4 'proximal phalanx of digit 4' SubClassOf 'proximal phalanx' http://purl.obolibrary.org/obo/UBERON_0014503 proximal phalanx of digit 3 'proximal phalanx of digit 3' SubClassOf 'proximal phalanx' http://purl.obolibrary.org/obo/UBERON_0014509 distal sesamoid impar ligament 'distal sesamoid impar ligament' SubClassOf 'skeletal ligament' http://purl.obolibrary.org/obo/UBERON_0014508 distal interphalangeal joint of manual digit 3 'distal interphalangeal joint of manual digit 3' SubClassOf 'distal interphalangeal joint of digit 3' 'distal interphalangeal joint of manual digit 3' SubClassOf 'interphalangeal joint of manual digit 3' http://purl.obolibrary.org/obo/UBERON_0014507 distal interphalangeal joint of pedal digit 3 'distal interphalangeal joint of pedal digit 3' SubClassOf 'interphalangeal joint of pedal digit 3' 'distal interphalangeal joint of pedal digit 3' SubClassOf 'distal interphalangeal joint of digit 3' http://purl.obolibrary.org/obo/UBERON_0002512 corpus luteum 'corpus luteum' SubClassOf 'endocrine gland' 'corpus luteum' SubClassOf 'female reproductive gland' http://purl.obolibrary.org/obo/UBERON_0002528 sacral lymph node 'sacral lymph node' SubClassOf 'lymph node' http://purl.obolibrary.org/obo/UBERON_0002525 brachial lymph node 'brachial lymph node' SubClassOf 'lymph node' http://purl.obolibrary.org/obo/UBERON_0002526 lumbar lymph node 'lumbar lymph node' SubClassOf 'abdominal lymph node' http://purl.obolibrary.org/obo/UBERON_0002527 pancreatic lymph node 'pancreatic lymph node' SubClassOf 'abdominal lymph node' http://purl.obolibrary.org/obo/UBERON_0002520 submandibular lymph node 'submandibular lymph node' SubClassOf 'peripheral lymph node' http://purl.obolibrary.org/obo/UBERON_0002532 epiblast (generic) 'epiblast (generic)' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0002534 paired fin 'paired fin' SubClassOf 'paired limb/fin' 'paired fin' SubClassOf 'fin' http://purl.obolibrary.org/obo/UBERON_0002546 cranial placode 'cranial placode' SubClassOf 'ectodermal placode' http://purl.obolibrary.org/obo/UBERON_0002547 tadpole 'tadpole' SubClassOf 'larva' http://purl.obolibrary.org/obo/UBERON_0002548 larva 'larva' SubClassOf 'whole organism' http://purl.obolibrary.org/obo/MONDO_0023419 hyperprolinemia 'hyperprolinemia' SubClassOf 'Disorder of proline metabolism' http://purl.obolibrary.org/obo/UBERON_0010063 tympanic cavity epithelium 'tympanic cavity epithelium' SubClassOf 'epithelial sac' 'tympanic cavity epithelium' SubClassOf 'endo-epithelium' 'tympanic cavity epithelium' SubClassOf 'middle ear epithelium' http://purl.obolibrary.org/obo/UBERON_0009073 dorsobronchus 'dorsobronchus' SubClassOf 'lobar bronchus' http://purl.obolibrary.org/obo/UBERON_0010062 pharyngotympanic tube epithelium 'pharyngotympanic tube epithelium' SubClassOf 'epithelial tube' 'pharyngotympanic tube epithelium' SubClassOf 'middle ear epithelium' 'pharyngotympanic tube epithelium' SubClassOf 'endo-epithelium' http://purl.obolibrary.org/obo/UBERON_0009072 ventrobronchus 'ventrobronchus' SubClassOf 'intrapulmonary bronchus' http://purl.obolibrary.org/obo/UBERON_0010065 auditory meatus epithelium 'auditory meatus epithelium' SubClassOf 'outer ear epithelium' 'auditory meatus epithelium' SubClassOf 'ecto-epithelium' 'auditory meatus epithelium' SubClassOf 'endo-epithelium' 'auditory meatus epithelium' SubClassOf 'epithelial tube' http://purl.obolibrary.org/obo/UBERON_0009071 mesobronchus 'mesobronchus' SubClassOf 'main bronchus' 'mesobronchus' SubClassOf 'intrapulmonary bronchus' http://purl.obolibrary.org/obo/UBERON_0010069 outer epithelial layer of tympanic membrane 'outer epithelial layer of tympanic membrane' SubClassOf 'ecto-epithelium' 'outer epithelial layer of tympanic membrane' SubClassOf 'tympanic membrane epithelium' 'outer epithelial layer of tympanic membrane' SubClassOf 'endo-epithelium' 'outer epithelial layer of tympanic membrane' SubClassOf 'outer ear epithelium' http://purl.obolibrary.org/obo/UBERON_0010050 infralabial gland 'infralabial gland' SubClassOf 'oral gland' http://purl.obolibrary.org/obo/UBERON_0010052 mucosa of dorsum of tongue 'mucosa of dorsum of tongue' SubClassOf 'mucosa of tongue' http://purl.obolibrary.org/obo/UBERON_0010054 malleus cartilage element 'malleus cartilage element' SubClassOf 'auditory ossicle cartilage element' http://purl.obolibrary.org/obo/UBERON_0010055 stapes cartilage element 'stapes cartilage element' SubClassOf 'hyomandibular cartilage' 'stapes cartilage element' SubClassOf 'auditory ossicle cartilage element' http://purl.obolibrary.org/obo/UBERON_0010081 future common hepatic duct 'future common hepatic duct' SubClassOf 'epithelial tube' 'future common hepatic duct' SubClassOf 'epithelium of biliary system' 'future common hepatic duct' SubClassOf 'extrahepatic bile duct' 'future common hepatic duct' SubClassOf 'endo-epithelium' http://purl.obolibrary.org/obo/UBERON_0010084 future diaphragm 'future diaphragm' SubClassOf 'presumptive structure' http://purl.obolibrary.org/obo/MONDO_0018700 pseudohypoparathyroidism without Albright hereditary osteodystrophy 'pseudohypoparathyroidism without Albright hereditary osteodystrophy' SubClassOf 'Pseudohypoparathyroidism' http://purl.obolibrary.org/obo/MONDO_0018701 congenital nemaline myopathy 'congenital nemaline myopathy' SubClassOf 'Congenital myopathy' http://purl.obolibrary.org/obo/MONDO_0018719 rare capillary malformation with associated anomalies 'rare capillary malformation with associated anomalies' SubClassOf 'has modifier' some 'rare' 'rare capillary malformation with associated anomalies' SubClassOf 'capillary malformation' http://purl.obolibrary.org/obo/UBERON_0010078 optic choroid vascular plexus 'optic choroid vascular plexus' SubClassOf 'vascular plexus' 'optic choroid vascular plexus' SubClassOf 'vasculature of eye' 'choroid plexus' DisjointWith 'optic choroid vascular plexus' http://purl.obolibrary.org/obo/MONDO_0018718 vascular tumor with associated anomalies 'vascular tumor with associated anomalies' SubClassOf 'vascular neoplasm' 'vascular tumor with associated anomalies' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/UBERON_0010077 cuboidal epithelium 'cuboidal epithelium' SubClassOf 'epithelium' http://purl.obolibrary.org/obo/UBERON_0009098 gravid uterus 'gravid uterus' SubClassOf 'uterus' http://purl.obolibrary.org/obo/UBERON_0009097 gravid organism 'gravid organism' SubClassOf 'adult organism' http://purl.obolibrary.org/obo/UBERON_0009030 left pulmonary vein 'left pulmonary vein' SubClassOf 'pulmonary vein' http://purl.obolibrary.org/obo/UBERON_0010021 dorsal part of pharyngeal pouch 1 'dorsal part of pharyngeal pouch 1' SubClassOf 'endoderm of foregut' http://purl.obolibrary.org/obo/UBERON_0010020 tubotympanic recess epithelium 'tubotympanic recess epithelium' SubClassOf 'middle ear epithelium' 'tubotympanic recess epithelium' SubClassOf 'endo-epithelium' 'tubotympanic recess epithelium' SubClassOf 'epithelial sac' http://purl.obolibrary.org/obo/UBERON_0010023 dorsal part of pharyngeal pouch 2 'dorsal part of pharyngeal pouch 2' SubClassOf 'endoderm of foregut' http://purl.obolibrary.org/obo/MONDO_0018729 rare genetic vascular tumor 'rare genetic vascular tumor' SubClassOf 'Genetic vascular anomaly' 'rare genetic vascular tumor' EquivalentTo 'vascular neoplasm' and ('has modifier' some 'inherited') 'rare genetic vascular tumor' SubClassOf 'vascular neoplasm' http://purl.obolibrary.org/obo/UBERON_0010022 ventral part of pharyngeal pouch 1 'ventral part of pharyngeal pouch 1' SubClassOf 'endoderm of foregut' http://purl.obolibrary.org/obo/UBERON_0010025 dorsal part of pharyngeal pouch 3 'dorsal part of pharyngeal pouch 3' SubClassOf 'endoderm of foregut' http://purl.obolibrary.org/obo/UBERON_0010024 ventral part of pharyngeal pouch 2 'ventral part of pharyngeal pouch 2' SubClassOf 'endoderm of foregut' http://purl.obolibrary.org/obo/UBERON_0009027 vesical artery 'vesical artery' SubClassOf 'artery' http://purl.obolibrary.org/obo/UBERON_0010027 dorsal part of pharyngeal pouch 4 'dorsal part of pharyngeal pouch 4' SubClassOf 'endoderm of foregut' http://purl.obolibrary.org/obo/UBERON_0009026 iliac circumflex artery 'iliac circumflex artery' SubClassOf 'artery' http://purl.obolibrary.org/obo/UBERON_0010026 ventral part of pharyngeal pouch 3 'ventral part of pharyngeal pouch 3' SubClassOf 'endoderm of foregut' http://purl.obolibrary.org/obo/UBERON_0009025 gastroepiploic artery 'gastroepiploic artery' SubClassOf 'abdomen blood vessel' 'gastroepiploic artery' SubClassOf 'artery' http://purl.obolibrary.org/obo/UBERON_0010029 dorsal part of pharyngeal pouch 5 'dorsal part of pharyngeal pouch 5' SubClassOf 'endoderm of foregut' http://purl.obolibrary.org/obo/MONDO_0018727 immunodeficiency due to a complement regulatory deficiency 'immunodeficiency due to a complement regulatory deficiency' SubClassOf 'Immunodeficiency due to a complement cascade protein anomaly' http://purl.obolibrary.org/obo/UBERON_0010028 ventral part of pharyngeal pouch 4 'ventral part of pharyngeal pouch 4' SubClassOf 'endoderm of foregut' http://purl.obolibrary.org/obo/MONDO_0018722 primary lymphedema with associated anomalies 'primary lymphedema with associated anomalies' SubClassOf 'Primary lymphedema' http://purl.obolibrary.org/obo/MONDO_0018723 rare vascular malformation of major vessels 'rare vascular malformation of major vessels' SubClassOf 'vascular anomaly' http://purl.obolibrary.org/obo/UBERON_0009029 pudendal vein 'pudendal vein' SubClassOf 'pelvis blood vessel' 'pudendal vein' SubClassOf 'vein' http://purl.obolibrary.org/obo/MONDO_0006751 Erysipelothrix infectious disease 'Erysipelothrix infectious disease' SubClassOf 'gram-positive bacterial infections' http://purl.obolibrary.org/obo/UBERON_0009041 superficial circumflex iliac artery 'superficial circumflex iliac artery' SubClassOf 'iliac circumflex artery' 'superficial circumflex iliac artery' SubClassOf 'systemic artery' http://purl.obolibrary.org/obo/UBERON_0009040 deep circumflex iliac artery 'deep circumflex iliac artery' SubClassOf 'systemic artery' 'deep circumflex iliac artery' SubClassOf 'iliac circumflex artery' http://purl.obolibrary.org/obo/UBERON_0009035 renal straight tubule 'renal straight tubule' SubClassOf 'region of nephron tubule' http://purl.obolibrary.org/obo/UBERON_0009032 right pulmonary vein 'right pulmonary vein' SubClassOf 'pulmonary vein' http://purl.obolibrary.org/obo/MONDO_0018731 lethal multiple congenital anomalies/dysmorphic syndrome 'lethal multiple congenital anomalies/dysmorphic syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0018730 rare genetic venous malformation 'rare genetic venous malformation' EquivalentTo 'rare venous malformation' and ('has modifier' some 'inherited') 'rare genetic venous malformation' SubClassOf 'rare venous malformation' 'rare genetic venous malformation' SubClassOf 'Genetic vascular anomaly' http://purl.obolibrary.org/obo/MONDO_0043707 mediastinal disease 'mediastinal disease' SubClassOf 'thoracic disease' 'mediastinal disease' SubClassOf 'disease by anatomical system' http://purl.obolibrary.org/obo/UBERON_0009039 lymph node germinal center 'lymph node germinal center' SubClassOf 'germinal center' http://purl.obolibrary.org/obo/UBERON_0010041 median ovary 'median ovary' SubClassOf 'female gonad' http://purl.obolibrary.org/obo/UBERON_0010040 stomach non-glandular epithelium 'stomach non-glandular epithelium' SubClassOf 'non-glandular epithelium' 'stomach non-glandular epithelium' SubClassOf 'epithelium of stomach' http://purl.obolibrary.org/obo/UBERON_0010042 1st arch mesenchyme '1st arch mesenchyme' SubClassOf 'pharyngeal arch mesenchymal region' http://purl.obolibrary.org/obo/UBERON_0010045 1st arch maxillary mesenchyme '1st arch maxillary mesenchyme' SubClassOf '1st arch mesenchyme' http://purl.obolibrary.org/obo/UBERON_0010047 oral gland 'oral gland' SubClassOf 'gland of digestive tract' 'oral gland' SubClassOf 'exocrine gland' http://purl.obolibrary.org/obo/UBERON_0009049 superficial external pudendal vein 'superficial external pudendal vein' SubClassOf 'external pudendal vein' 'superficial external pudendal vein' SubClassOf 'superficial vein' http://purl.obolibrary.org/obo/UBERON_0010049 supralabial gland 'supralabial gland' SubClassOf 'oral gland' http://purl.obolibrary.org/obo/UBERON_0010048 Duvernoy's gland 'Duvernoy's gland' SubClassOf 'oral gland' 'major vestibular gland' DisjointWith 'Duvernoy's gland' http://purl.obolibrary.org/obo/UBERON_0009048 deep external pudendal vein 'deep external pudendal vein' SubClassOf 'deep vein' 'deep external pudendal vein' SubClassOf 'external pudendal vein' http://purl.obolibrary.org/obo/UBERON_0009047 superior external pudendal vein 'superior external pudendal vein' SubClassOf 'external pudendal vein' http://purl.obolibrary.org/obo/UBERON_0009046 inferior external pudendal vein 'inferior external pudendal vein' SubClassOf 'external pudendal vein' http://purl.obolibrary.org/obo/MONDO_0018744 oligodendroglial tumor 'oligodendroglial tumor' SubClassOf 'malignant glioma' http://purl.obolibrary.org/obo/MONDO_0018743 immune-mediated acquired neuromuscular junction disease 'immune-mediated acquired neuromuscular junction disease' SubClassOf 'acquired neuromuscular junction disease' http://purl.obolibrary.org/obo/UBERON_0009044 pudendal venous plexus 'pudendal venous plexus' SubClassOf 'venous plexus' 'pudendal venous plexus' SubClassOf 'vasculature of trunk' http://purl.obolibrary.org/obo/MONDO_0018745 superficial pemphigus 'superficial pemphigus' SubClassOf 'autoimmune bullous skin disease' http://purl.obolibrary.org/obo/UBERON_0009042 prostatic venous plexus 'prostatic venous plexus' SubClassOf 'venous plexus' 'prostatic venous plexus' SubClassOf 'vasculature of organ' http://purl.obolibrary.org/obo/MONDO_0018740 drug-induced methemoglobinemia 'drug-induced methemoglobinemia' SubClassOf 'acquired hemoglobinopathy' 'drug-induced methemoglobinemia' EquivalentTo 'methemoglobinemia' and ('has modifier' some 'acquired') 'drug-induced methemoglobinemia' SubClassOf 'methemoglobinemia' http://purl.obolibrary.org/obo/UBERON_0010030 ventral part of pharyngeal pouch 5 'ventral part of pharyngeal pouch 5' SubClassOf 'endoderm of foregut' http://purl.obolibrary.org/obo/UBERON_0010031 6th arch mesenchyme '6th arch mesenchyme' SubClassOf 'pharyngeal arch mesenchymal region' http://purl.obolibrary.org/obo/UBERON_0010038 fundic gastric gland 'fundic gastric gland' SubClassOf 'mucous gland' 'fundic gastric gland' SubClassOf 'gastric gland' http://purl.obolibrary.org/obo/MONDO_0018758 familial patent arterial duct 'familial patent arterial duct' SubClassOf 'Genetic cardiac anomaly' 'familial patent arterial duct' SubClassOf 'arterial duct anomaly' http://purl.obolibrary.org/obo/UBERON_0009057 one-pass circulatory system 'one-pass circulatory system' SubClassOf 'closed circulatory system' http://purl.obolibrary.org/obo/UBERON_0009056 two-pass circulatory system 'two-pass circulatory system' SubClassOf 'closed circulatory system' http://purl.obolibrary.org/obo/UBERON_0009055 closed circulatory system 'closed circulatory system' SubClassOf 'circulatory system' http://purl.obolibrary.org/obo/UBERON_0009054 open circulatory system 'open circulatory system' SubClassOf 'circulatory system' http://purl.obolibrary.org/obo/MONDO_0018751 genetic otorhinolaryngologic disease 'genetic otorhinolaryngologic disease' SubClassOf 'inherited genetic disease' 'genetic otorhinolaryngologic disease' SubClassOf 'otorhinolaryngologic disease' 'genetic otorhinolaryngologic disease' SubClassOf 'has modifier' some 'rare' 'genetic otorhinolaryngologic disease' EquivalentTo 'otorhinolaryngologic disease' and ('has modifier' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0018753 rare disease with malignant hyperthermia 'rare disease with malignant hyperthermia' SubClassOf 'has modifier' some 'rare' 'rare disease with malignant hyperthermia' SubClassOf 'nervous system disease' http://purl.obolibrary.org/obo/MONDO_0004126 thyroiditis (disease) 'thyroiditis (disease)' SubClassOf 'inflammatory disease' 'thyroiditis (disease)' SubClassOf 'thyroid disease' http://purl.obolibrary.org/obo/MONDO_0016104 infectious disease with peripheral neuropathy 'infectious disease with peripheral neuropathy' SubClassOf 'infectious disease of the nervous system' 'infectious disease with peripheral neuropathy' SubClassOf 'acquired peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0016105 acquired skeletal muscle disease 'acquired skeletal muscle disease' SubClassOf 'Genetic skeletal muscle disease' 'acquired skeletal muscle disease' EquivalentTo 'Genetic skeletal muscle disease' and ('has modifier' some 'acquired') 'acquired skeletal muscle disease' SubClassOf 'acquired peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0018764 microcephalic primordial dwarfism due to RTTN deficiency 'microcephalic primordial dwarfism due to RTTN deficiency' SubClassOf 'Microcephalic primordial dwarfism' http://purl.obolibrary.org/obo/MONDO_0018760 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome 'WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome' SubClassOf 'Rare genetic neurological disorder' 'WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome' SubClassOf 'congenital nervous system disorder' 'WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0004139 normocytic anemia 'normocytic anemia' SubClassOf 'anemia (disease)' http://purl.obolibrary.org/obo/MONDO_0018776 demyelinating hereditary motor and sensory neuropathy 'demyelinating hereditary motor and sensory neuropathy' SubClassOf 'Hereditary motor and sensory neuropathy' 'demyelinating hereditary motor and sensory neuropathy' SubClassOf 'Charcot-Marie-Tooth disease' http://purl.obolibrary.org/obo/MONDO_0018779 hypercontractile muscle stiffness syndrome 'hypercontractile muscle stiffness syndrome' SubClassOf 'Alpha-crystallinopathy' http://purl.obolibrary.org/obo/MONDO_0018778 intermediate Charcot-Marie-Tooth disease 'intermediate Charcot-Marie-Tooth disease' SubClassOf 'Hereditary motor and sensory neuropathy' 'intermediate Charcot-Marie-Tooth disease' SubClassOf 'Charcot-Marie-Tooth disease' http://purl.obolibrary.org/obo/MONDO_0018775 axonal hereditary motor and sensory neuropathy 'axonal hereditary motor and sensory neuropathy' SubClassOf 'Charcot-Marie-Tooth disease' 'axonal hereditary motor and sensory neuropathy' SubClassOf 'Hereditary motor and sensory neuropathy' http://purl.obolibrary.org/obo/MONDO_0018771 congenital anomaly of ventricular septum 'congenital anomaly of ventricular septum' SubClassOf 'congenital heart malformation' http://purl.obolibrary.org/obo/MONDO_0016125 infectious, fungal or parasitic myopathy 'infectious, fungal or parasitic myopathy' EquivalentTo 'myopathy' and 'infectious disease' 'infectious, fungal or parasitic myopathy' SubClassOf 'infectious disease of the nervous system' 'infectious, fungal or parasitic myopathy' SubClassOf 'myopathy' 'infectious, fungal or parasitic myopathy' SubClassOf 'acquired skeletal muscle disease' http://purl.obolibrary.org/obo/MONDO_0018788 COL4A1 or COL4A2-related cerebral small vessel disease 'COL4A1 or COL4A2-related cerebral small vessel disease' SubClassOf 'cerebral small vessel disease' http://purl.obolibrary.org/obo/MONDO_0016127 bacterial myositis 'bacterial myositis' SubClassOf 'infectious, fungal or parasitic myopathy' 'bacterial myositis' SubClassOf 'myositis' 'bacterial myositis' SubClassOf 'bacterial disease' http://purl.obolibrary.org/obo/MONDO_0016122 periodic paralysis (disease) 'periodic paralysis (disease)' SubClassOf 'inborn metal metabolism disorder' 'periodic paralysis (disease)' SubClassOf 'Metabolic myopathy' 'periodic paralysis (disease)' SubClassOf 'Genetic skeletal muscle disease' http://purl.obolibrary.org/obo/MONDO_0016123 muscular tumor 'muscular tumor' SubClassOf 'skeletal muscle neoplasm' http://purl.obolibrary.org/obo/MONDO_0018782 type 1 interferonopathy 'type 1 interferonopathy' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'type 1 interferonopathy' SubClassOf 'hereditary connective tissue disorder' 'type 1 interferonopathy' SubClassOf 'autoinflammatory syndrome' http://purl.obolibrary.org/obo/MONDO_0016137 acute and subacute inflammatory demyelinating polyneuropathy 'acute and subacute inflammatory demyelinating polyneuropathy' SubClassOf 'acquired peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0018798 other genetic dermis disorder 'other genetic dermis disorder' SubClassOf 'skin disease' 'other genetic dermis disorder' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0018795 syndromic constitutional thrombocytopenia 'syndromic constitutional thrombocytopenia' SubClassOf 'Rare hemorrhagic disorder due to a constitutional thrombocytopenia' http://purl.obolibrary.org/obo/MONDO_0018797 genetic cardiac malformation 'genetic cardiac malformation' SubClassOf 'has modifier' some 'rare' 'genetic cardiac malformation' SubClassOf 'heart disease' http://purl.obolibrary.org/obo/MONDO_0018796 isolated constitutional thrombocytopenia 'isolated constitutional thrombocytopenia' SubClassOf 'Rare hemorrhagic disorder due to a constitutional thrombocytopenia' http://purl.obolibrary.org/obo/MONDO_0018791 Moyomoya angiopathy 'Moyomoya angiopathy' SubClassOf 'disease of central nervous system or retinal vasculature' 'Moyomoya angiopathy' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0018790 COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy 'COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy' SubClassOf 'COL4A1 or COL4A2-related cerebral small vessel disease' http://purl.obolibrary.org/obo/MONDO_0018792 Moyamoya syndrome 'Moyamoya syndrome' SubClassOf 'Genetic central nervous system and retinal vascular disease' 'Moyamoya syndrome' SubClassOf 'Moyomoya angiopathy' http://purl.obolibrary.org/obo/MONDO_0004166 hereditary fallopian tube carcinoma 'hereditary fallopian tube carcinoma' SubClassOf 'Fallopian Tube Carcinoma' 'hereditary fallopian tube carcinoma' SubClassOf 'Genetic gynecological tumor' 'hereditary fallopian tube carcinoma' EquivalentTo 'Fallopian Tube Carcinoma' and ('has modifier' some 'inherited') http://purl.obolibrary.org/obo/UBERON_0010090 future falx cerebri 'future falx cerebri' SubClassOf 'presumptive structure' http://purl.obolibrary.org/obo/UBERON_0010092 future metencephalon 'future metencephalon' SubClassOf 'presumptive structure' http://purl.obolibrary.org/obo/UBERON_0010091 future hindbrain meninx 'future hindbrain meninx' SubClassOf 'future meninx' http://purl.obolibrary.org/obo/UBERON_0010096 future myelencephalon 'future myelencephalon' SubClassOf 'presumptive structure' http://purl.obolibrary.org/obo/MONDO_0043786 serositis 'serositis' SubClassOf 'inflammatory disease' http://purl.obolibrary.org/obo/MONDO_0004180 benign urinary system neoplasm 'benign urinary system neoplasm' SubClassOf 'urinary system neoplasm' 'benign urinary system neoplasm' SubClassOf 'benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0016170 chronic polyradiculoneuropathy 'chronic polyradiculoneuropathy' SubClassOf 'polyradiculoneuropathy' 'chronic polyradiculoneuropathy' SubClassOf 'chronic acquired demyelinating polyneuropathy' 'chronic polyradiculoneuropathy' SubClassOf 'chronic polyneuropathy' http://purl.obolibrary.org/obo/MONDO_0004183 axonal neuropathy 'axonal neuropathy' SubClassOf 'peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0016169 chronic acquired demyelinating polyneuropathy 'chronic acquired demyelinating polyneuropathy' SubClassOf 'acquired peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0016167 optic pathway glioma 'optic pathway glioma' SubClassOf 'pituitary tumor' 'optic pathway glioma' SubClassOf 'tumor of cranial and spinal nerves' 'optic pathway glioma' SubClassOf 'pituitary hormone deficiency from tumoral origin' 'optic pathway glioma' SubClassOf 'glioma' 'optic pathway glioma' SubClassOf 'visual pathway disease' http://purl.obolibrary.org/obo/MONDO_0016180 hematological disease associated with an acquired peripheral neuropathy 'hematological disease associated with an acquired peripheral neuropathy' SubClassOf 'hematologic disease' 'hematological disease associated with an acquired peripheral neuropathy' SubClassOf 'disease has major feature' some 'acquired peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0043768 thrombocytopenic purpura 'thrombocytopenic purpura' SubClassOf 'Genetic thrombotic microangiopathy' 'thrombocytopenic purpura' SubClassOf 'blood platelet disease' 'thrombocytopenic purpura' SubClassOf 'purpura (disease)' 'thrombocytopenic purpura' SubClassOf 'immune system disease' http://purl.obolibrary.org/obo/MONDO_0016177 systemic inflammatory disease associated with an acquired peripheral neuropathy 'systemic inflammatory disease associated with an acquired peripheral neuropathy' SubClassOf 'acquired peripheral neuropathy' 'systemic inflammatory disease associated with an acquired peripheral neuropathy' SubClassOf 'inflammatory disease' http://purl.obolibrary.org/obo/MONDO_0016178 peripheral neuropathy associated with monoclonal gammopathy 'peripheral neuropathy associated with monoclonal gammopathy' SubClassOf 'acquired peripheral neuropathy' 'peripheral neuropathy associated with monoclonal gammopathy' SubClassOf 'disease has feature' some 'monoclonal gammopathy' http://purl.obolibrary.org/obo/MONDO_0016179 acquired amyloid peripheral neuropathy 'acquired amyloid peripheral neuropathy' SubClassOf 'acquired peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0041161 endometrial hyperplasia 'endometrial hyperplasia' SubClassOf 'endometrial disease' http://purl.obolibrary.org/obo/UBERON_0000711 splenius capitis 'splenius capitis' SubClassOf 'splenius' 'splenius capitis' SubClassOf 'muscle of neck' http://purl.obolibrary.org/obo/UBERON_0009101 ammocoete 'ammocoete' SubClassOf 'larva' http://purl.obolibrary.org/obo/UBERON_0009117 indifferent gonad 'indifferent gonad' SubClassOf 'gonad' 'female gonad' DisjointWith 'indifferent gonad' 'testis' DisjointWith 'indifferent gonad' http://purl.obolibrary.org/obo/UBERON_0009116 thymoid 'thymoid' SubClassOf 'hemolymphoid system gland' 'thymoid' SubClassOf 'pharyngeal gland' 'thymoid' SubClassOf 'digestive system gland' http://purl.obolibrary.org/obo/UBERON_0009126 nodosal placode 'nodosal placode' SubClassOf 'epibranchial placode' http://purl.obolibrary.org/obo/UBERON_0009125 petrosal placode 'petrosal placode' SubClassOf 'epibranchial placode' http://purl.obolibrary.org/obo/UBERON_0009124 geniculate placode 'geniculate placode' SubClassOf 'epibranchial placode' http://purl.obolibrary.org/obo/UBERON_0010128 future pterygopalatine ganglion 'future pterygopalatine ganglion' SubClassOf 'parasympathetic ganglion' http://purl.obolibrary.org/obo/UBERON_0010127 future dorsal motor nucleus of vagus 'future dorsal motor nucleus of vagus' SubClassOf 'presumptive structure' http://purl.obolibrary.org/obo/UBERON_0009121 vomeronasal nerve 'vomeronasal nerve' SubClassOf 'cranial nerve' http://purl.obolibrary.org/obo/UBERON_0009129 right atrium endocardium 'right atrium endocardium' SubClassOf 'meso-epithelium' 'right atrium endocardium' SubClassOf 'endocardium of atrium' 'right atrium endocardium' SubClassOf 'simple squamous epithelium' http://purl.obolibrary.org/obo/UBERON_0009128 lateral line placode 'lateral line placode' SubClassOf 'dorsolateral placode' 'lateral line placode' SubClassOf 'presumptive structure' http://purl.obolibrary.org/obo/UBERON_0009127 epibranchial ganglion 'epibranchial ganglion' SubClassOf 'cranial ganglion' http://purl.obolibrary.org/obo/UBERON_0009140 right subcardinal vein 'right subcardinal vein' SubClassOf 'subcardinal vein' http://purl.obolibrary.org/obo/UBERON_0009133 pleuroperitoneal membrane 'pleuroperitoneal membrane' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0009132 peroneus 'peroneus' SubClassOf 'hindlimb zeugopod muscle' http://purl.obolibrary.org/obo/UBERON_0009130 dorsal meso-duodenum 'dorsal meso-duodenum' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0009139 right posterior cardinal vein 'right posterior cardinal vein' SubClassOf 'posterior cardinal vein' http://purl.obolibrary.org/obo/UBERON_0009138 right common cardinal vein 'right common cardinal vein' SubClassOf 'common cardinal vein' http://purl.obolibrary.org/obo/MONDO_0018609 syndromic hereditary optic neuropathy 'syndromic hereditary optic neuropathy' SubClassOf 'Optic neuropathy' 'syndromic hereditary optic neuropathy' SubClassOf 'syndromic disease' 'syndromic hereditary optic neuropathy' EquivalentTo 'Optic neuropathy' and ('has modifier' some 'has a syndromic presentation') http://purl.obolibrary.org/obo/MONDO_0018605 disorders of pentose/polyol metabolism 'disorders of pentose/polyol metabolism' SubClassOf 'Disorder of carbohydrate metabolism' http://purl.obolibrary.org/obo/MONDO_0018619 hyperinsulinemic hypoglycaemia 'hyperinsulinemic hypoglycaemia' SubClassOf 'has modifier' some 'rare' 'hyperinsulinemic hypoglycaemia' SubClassOf 'endocrine system disease' http://purl.obolibrary.org/obo/MONDO_0018627 ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor 'ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor' SubClassOf 'ACTH-independent Cushing syndrome' 'ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor' EquivalentTo 'ACTH-independent Cushing syndrome' and ('disease arises from feature' some 'Cortisol-Producing Adrenal Cortex Adenoma') 'ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor' SubClassOf 'disease arises from feature' some 'Cortisol-Producing Adrenal Cortex Adenoma' http://purl.obolibrary.org/obo/MONDO_0018638 pseudohypoaldosteronism 'pseudohypoaldosteronism' SubClassOf 'renal tubular transport disease' http://purl.obolibrary.org/obo/MONDO_0018637 familial chylomicronemia syndrome 'familial chylomicronemia syndrome' SubClassOf 'Major hypertriglyceridemia' http://purl.obolibrary.org/obo/MONDO_0018639 caudal regression-sirenomelia spectrum 'caudal regression-sirenomelia spectrum' SubClassOf 'Syndromic anorectal malformation' 'caudal regression-sirenomelia spectrum' SubClassOf 'Syndromic urogenital tract malformation' 'caudal regression-sirenomelia spectrum' SubClassOf 'Genetic syndrome with limb malformations as a major feature' http://purl.obolibrary.org/obo/MONDO_0018634 hereditary amyloidosis 'hereditary amyloidosis' SubClassOf 'amyloidosis' 'hereditary amyloidosis' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'hereditary amyloidosis' EquivalentTo 'amyloidosis' and ('has modifier' some 'inherited') 'hereditary amyloidosis' SubClassOf 'Inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0018630 hereditary nonpolyposis colon cancer 'hereditary nonpolyposis colon cancer' SubClassOf 'inherited digestive cancer-predisposing syndrome' 'hereditary nonpolyposis colon cancer' SubClassOf 'Genetic digestive tract tumor' http://purl.obolibrary.org/obo/MONDO_0004007 breast intraductal proliferative lesion 'breast intraductal proliferative lesion' SubClassOf 'intraductal breast neoplasm' http://purl.obolibrary.org/obo/MONDO_0004001 compartment syndrome 'compartment syndrome' SubClassOf 'syndromic disease' 'compartment syndrome' SubClassOf 'disease has feature' some 'ischemic disease' http://purl.obolibrary.org/obo/MONDO_0018640 secondary vasculitis 'secondary vasculitis' SubClassOf 'vasculitis' http://purl.obolibrary.org/obo/UBERON_4440011 paired fin lepidotrichium 'paired fin lepidotrichium' SubClassOf 'bone of free limb or fin' 'paired fin lepidotrichium' SubClassOf 'lepidotrichium' http://purl.obolibrary.org/obo/MONDO_0018652 biological anomaly without phenotypic characterization 'biological anomaly without phenotypic characterization' SubClassOf 'has modifier' some 'rare' 'biological anomaly without phenotypic characterization' SubClassOf 'disease' http://purl.obolibrary.org/obo/MONDO_0004021 mediastinal malignant lymphoma 'mediastinal malignant lymphoma' SubClassOf 'mediastinal cancer' 'mediastinal malignant lymphoma' SubClassOf 'lymphoma' http://purl.obolibrary.org/obo/MONDO_0016009 fetal trimethadione syndrome 'fetal trimethadione syndrome' SubClassOf 'teratogenic Pierre Robin syndrome' 'fetal trimethadione syndrome' SubClassOf 'fetal anticonvulsant syndrome' http://purl.obolibrary.org/obo/MONDO_0016003 ehrlichiosis 'ehrlichiosis' SubClassOf 'primary bacterial infectious disease' 'ehrlichiosis' SubClassOf 'tick-borne infectious disease' 'ehrlichiosis' SubClassOf 'primary Anaplasmataceae infectious disease' http://purl.obolibrary.org/obo/MONDO_0004037 retinal edema 'retinal edema' SubClassOf 'retinopathy' http://purl.obolibrary.org/obo/MONDO_0004033 familial ovarian carcinoma 'familial ovarian carcinoma' EquivalentTo 'ovarian carcinoma' and ('has modifier' some 'inherited') 'familial ovarian carcinoma' SubClassOf 'Genetic gynecological tumor' 'familial ovarian carcinoma' SubClassOf 'ovarian carcinoma' http://purl.obolibrary.org/obo/MONDO_0018677 visceral heterotaxy 'visceral heterotaxy' SubClassOf 'heart position anomaly' 'visceral heterotaxy' SubClassOf 'congenital abnormality' 'visceral heterotaxy' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0018675 IgG4-related ophthalmic disease 'IgG4-related ophthalmic disease' SubClassOf 'autoimmune disease of the nervous system' 'IgG4-related ophthalmic disease' SubClassOf 'IgG4-related disease' 'IgG4-related ophthalmic disease' SubClassOf 'rare inflammatory eye disease' http://purl.obolibrary.org/obo/MONDO_0018686 acquired Creutzfeldt-Jakob disease 'acquired Creutzfeldt-Jakob disease' SubClassOf 'encephalopathy, bovine spongiform' 'acquired Creutzfeldt-Jakob disease' EquivalentTo 'Creutzfeldt Jacob Disease' and ('has modifier' some 'acquired') 'acquired Creutzfeldt-Jakob disease' SubClassOf 'Creutzfeldt Jacob Disease' 'acquired Creutzfeldt-Jakob disease' SubClassOf 'has modifier' some 'acquired' http://purl.obolibrary.org/obo/MONDO_0018683 acquired ichthyosis 'acquired ichthyosis' SubClassOf 'ichthyosis vulgaris' 'acquired ichthyosis' EquivalentTo 'ichthyosis (disease)' and ('has modifier' some 'acquired') 'acquired ichthyosis' SubClassOf 'has modifier' some 'acquired' http://purl.obolibrary.org/obo/MONDO_0018699 pseudohypoparathyroidism with Albright hereditary osteodystrophy 'pseudohypoparathyroidism with Albright hereditary osteodystrophy' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'pseudohypoparathyroidism with Albright hereditary osteodystrophy' SubClassOf 'Rare genetic neurological disorder' 'pseudohypoparathyroidism with Albright hereditary osteodystrophy' SubClassOf 'Acromelic dysplasia' 'pseudohypoparathyroidism with Albright hereditary osteodystrophy' SubClassOf 'other genetic dermis disorder' 'pseudohypoparathyroidism with Albright hereditary osteodystrophy' SubClassOf 'Syndromic obesity' 'pseudohypoparathyroidism with Albright hereditary osteodystrophy' SubClassOf 'congenital nervous system disorder' 'pseudohypoparathyroidism with Albright hereditary osteodystrophy' SubClassOf 'dermis disease' 'pseudohypoparathyroidism with Albright hereditary osteodystrophy' SubClassOf 'Musculoskeletal disease with cataract' 'pseudohypoparathyroidism with Albright hereditary osteodystrophy' SubClassOf 'genetic skin disease' 'pseudohypoparathyroidism with Albright hereditary osteodystrophy' SubClassOf 'hereditary connective tissue disorder' 'pseudohypoparathyroidism with Albright hereditary osteodystrophy' SubClassOf 'Pseudohypoparathyroidism' http://purl.obolibrary.org/obo/MONDO_0018698 hereditary neuroendocrine tumor of small intestine 'hereditary neuroendocrine tumor of small intestine' SubClassOf 'inherited neuroendocrine tumor' 'hereditary neuroendocrine tumor of small intestine' SubClassOf 'small intestine neuroendocrine tumor' 'hereditary neuroendocrine tumor of small intestine' SubClassOf 'Genetic digestive tract tumor' 'hereditary neuroendocrine tumor of small intestine' EquivalentTo 'small intestine neuroendocrine tumor' and ('has modifier' some 'inherited') 'hereditary neuroendocrine tumor of small intestine' SubClassOf 'inherited digestive cancer-predisposing syndrome' http://purl.obolibrary.org/obo/MONDO_0004069 inborn mitochondrial metabolism disorder 'inborn mitochondrial metabolism disorder' SubClassOf 'Disorder of energy metabolism' 'inborn mitochondrial metabolism disorder' SubClassOf 'Developmental anomaly of metabolic origin' 'inborn mitochondrial metabolism disorder' SubClassOf 'Mitochondrial disease' http://purl.obolibrary.org/obo/UBERON_6004983 embryonic/larval cuticle 'embryonic/larval cuticle' SubClassOf 'chitin-based cuticle' http://purl.obolibrary.org/obo/UBERON_6004986 third instar larval cuticle 'third instar larval cuticle' SubClassOf 'embryonic/larval cuticle' http://purl.obolibrary.org/obo/MONDO_0016047 endophthalmitis 'endophthalmitis' SubClassOf 'globe disease' 'endophthalmitis' SubClassOf 'eye infectious disease' 'endophthalmitis' SubClassOf 'inflammatory disease' 'endophthalmitis' SubClassOf 'rare inflammatory eye disease' http://purl.obolibrary.org/obo/MONDO_0016055 syndrome with corpus callosum agenesis /dysgenesis as a major feature 'syndrome with corpus callosum agenesis /dysgenesis as a major feature' SubClassOf 'Genetic syndrome with a central nervous system malformation as major feature' 'syndrome with corpus callosum agenesis /dysgenesis as a major feature' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0016054 cerebral malformation 'cerebral malformation' SubClassOf 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0004087 basaloid large cell lung carcinoma 'basaloid large cell lung carcinoma' SubClassOf 'Basaloid Carcinoma' 'basaloid large cell lung carcinoma' EquivalentTo 'large cell lung carcinoma' and 'Basaloid Carcinoma' 'basaloid large cell lung carcinoma' SubClassOf 'large cell lung carcinoma' http://purl.obolibrary.org/obo/MONDO_0004093 esophageal basaloid carcinoma 'esophageal basaloid carcinoma' SubClassOf 'basaloid squamous cell carcinoma' 'esophageal basaloid carcinoma' EquivalentTo 'esophageal squamous cell carcinoma' and 'basaloid squamous cell carcinoma' 'esophageal basaloid carcinoma' SubClassOf 'esophageal squamous cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0004095 B-cell neoplasm 'B-cell neoplasm' SubClassOf 'lymphoma' 'B-cell neoplasm' SubClassOf 'leukocyte disease' http://purl.obolibrary.org/obo/MONDO_0016075 filariasis 'filariasis' SubClassOf 'Helminthiasis' 'filariasis' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0016093 borderline epithelial tumor of ovary 'borderline epithelial tumor of ovary' SubClassOf 'ovarian epithelial tumor' http://purl.obolibrary.org/obo/MONDO_0016096 malignant non-dysgerminomatous germ cell tumor of ovary 'malignant non-dysgerminomatous germ cell tumor of ovary' SubClassOf 'ovarian primitive germ cell tumor' 'malignant non-dysgerminomatous germ cell tumor of ovary' SubClassOf 'nongerminomatous germ cell tumor' http://purl.obolibrary.org/obo/MONDO_0041086 mixed anxiety and depressive disorder 'mixed anxiety and depressive disorder' SubClassOf 'depressive disorder' 'mixed anxiety and depressive disorder' EquivalentTo 'depressive disorder' and 'anxiety disorder' 'mixed anxiety and depressive disorder' SubClassOf 'anxiety disorder' http://purl.obolibrary.org/obo/UBERON_0012641 body of tubeworm 'body of tubeworm' SubClassOf 'whole organism' http://purl.obolibrary.org/obo/UBERON_0012649 anococcygeus muscle 'anococcygeus muscle' SubClassOf 'anal region smooth muscle' http://purl.obolibrary.org/obo/UBERON_0009005 femorotibial joint 'femorotibial joint' SubClassOf 'synovial limb joint' 'femorotibial joint' SubClassOf 'hindlimb joint' http://purl.obolibrary.org/obo/UBERON_0009009 carotid sinus nerve 'carotid sinus nerve' SubClassOf 'nerve of head region' http://purl.obolibrary.org/obo/UBERON_0009007 superficial inguinal lymph node 'superficial inguinal lymph node' SubClassOf 'superficial lymph node' 'superficial inguinal lymph node' SubClassOf 'inguinal lymph node' http://purl.obolibrary.org/obo/UBERON_0009006 deep inguinal lymph node 'deep inguinal lymph node' SubClassOf 'inguinal lymph node' http://purl.obolibrary.org/obo/UBERON_0012651 mucosa of gastroduodenal junction 'mucosa of gastroduodenal junction' SubClassOf 'mucosa of stomach' http://purl.obolibrary.org/obo/UBERON_0009015 upper back skin 'upper back skin' SubClassOf 'skin of thorax' 'upper back skin' SubClassOf 'skin of back' http://purl.obolibrary.org/obo/UBERON_0009014 lower back skin 'lower back skin' SubClassOf 'abdominal segment skin' 'lower back skin' SubClassOf 'skin of back' http://purl.obolibrary.org/obo/UBERON_0012615 umbilical smooth muscle 'umbilical smooth muscle' SubClassOf 'smooth muscle tissue' 'umbilical smooth muscle' SubClassOf 'extraembryonic tissue' http://purl.obolibrary.org/obo/UBERON_0000642 suspensory ligament of duodenum 'suspensory ligament of duodenum' SubClassOf 'suspensory ligament' http://purl.obolibrary.org/obo/UBERON_0012480 cloacal mucosa 'cloacal mucosa' SubClassOf 'mucosa' http://purl.obolibrary.org/obo/UBERON_0012481 cloacal epithelium 'cloacal epithelium' SubClassOf 'digestive tract epithelium' 'cloacal epithelium' SubClassOf 'endo-epithelium' http://purl.obolibrary.org/obo/UBERON_0000490 unilaminar epithelium 'unilaminar epithelium' SubClassOf 'epithelium' http://purl.obolibrary.org/obo/UBERON_0012471 hepatogastric ligament 'hepatogastric ligament' SubClassOf 'nonskeletal ligament' http://purl.obolibrary.org/obo/UBERON_0012472 hepatoduodenal ligament 'hepatoduodenal ligament' SubClassOf 'nonskeletal ligament' http://purl.obolibrary.org/obo/UBERON_0012478 cloacal gland 'cloacal gland' SubClassOf 'gland of digestive tract' http://purl.obolibrary.org/obo/UBERON_0012479 urodeal gland 'urodeal gland' SubClassOf 'cloacal gland' http://purl.obolibrary.org/obo/UBERON_0012494 muscularis mucosae of duodenum 'muscularis mucosae of duodenum' SubClassOf 'muscularis mucosae of small intestine' http://purl.obolibrary.org/obo/UBERON_0012497 muscularis mucosae of rectum 'muscularis mucosae of rectum' SubClassOf 'rectum smooth muscle tissue' 'muscularis mucosae of rectum' SubClassOf 'muscularis mucosae of large intestine' http://purl.obolibrary.org/obo/MONDO_0006507 hereditary hemochromatosis 'hereditary hemochromatosis' SubClassOf 'Disorder of iron metabolism and transport' 'hereditary hemochromatosis' SubClassOf 'hemosiderosis' 'hereditary hemochromatosis' SubClassOf 'inborn metal metabolism disorder' http://purl.obolibrary.org/obo/UBERON_0000457 cavernous artery 'cavernous artery' SubClassOf 'head blood vessel' 'cavernous artery' SubClassOf 'systemic artery' http://purl.obolibrary.org/obo/UBERON_0012441 endothelium of peritubular capillary 'endothelium of peritubular capillary' SubClassOf 'kidney epithelium' 'endothelium of peritubular capillary' SubClassOf 'endothelium of capillary' http://purl.obolibrary.org/obo/UBERON_0000450 corpus albicans 'corpus albicans' SubClassOf 'mature ovarian follicle' http://purl.obolibrary.org/obo/UBERON_0012438 blastema of regenerating fin/limb 'blastema of regenerating fin/limb' SubClassOf 'blastema' http://purl.obolibrary.org/obo/UBERON_0012439 blastema of regenerating digit tip 'blastema of regenerating digit tip' SubClassOf 'blastema' http://purl.obolibrary.org/obo/UBERON_0000461 minor vestibular gland 'minor vestibular gland' SubClassOf 'paraurethral gland' 'minor vestibular gland' SubClassOf 'vestibular gland' 'minor vestibular gland' SubClassOf 'female urethral gland' http://purl.obolibrary.org/obo/UBERON_0000460 major vestibular gland 'major vestibular gland' SubClassOf 'mucous gland' 'major vestibular gland' SubClassOf 'exocrine gland of integumental system' 'major vestibular gland' DisjointWith 'Duvernoy's gland' 'major vestibular gland' SubClassOf 'vestibular gland' http://purl.obolibrary.org/obo/MONDO_0018506 mesenchymal tumor of small intestine 'mesenchymal tumor of small intestine' SubClassOf 'has modifier' some 'rare' 'mesenchymal tumor of small intestine' SubClassOf 'small intestine neoplasm' http://purl.obolibrary.org/obo/MONDO_0018502 hereditary gastric cancer 'hereditary gastric cancer' SubClassOf 'gastric carcinoma' 'hereditary gastric cancer' SubClassOf 'Genetic digestive tract tumor' 'hereditary gastric cancer' EquivalentTo 'gastric cancer' and ('has modifier' some 'inherited') http://purl.obolibrary.org/obo/UBERON_0012458 antler velvet 'antler velvet' SubClassOf 'skin of head' http://purl.obolibrary.org/obo/MONDO_0018515 squamous cell carcinoma of rectum 'squamous cell carcinoma of rectum' SubClassOf 'Colorectal Squamous Cell Carcinoma' 'squamous cell carcinoma of rectum' SubClassOf 'has modifier' some 'rare' 'squamous cell carcinoma of rectum' SubClassOf 'rectal carcinoma' http://purl.obolibrary.org/obo/UBERON_0000484 simple cuboidal epithelium 'simple cuboidal epithelium' SubClassOf 'unilaminar epithelium' 'simple cuboidal epithelium' SubClassOf 'cuboidal epithelium' http://purl.obolibrary.org/obo/MONDO_0018511 epithelial tumor of the appendix 'epithelial tumor of the appendix' SubClassOf 'appendiceal neoplasm' 'epithelial tumor of the appendix' SubClassOf 'epithelial tumor of colon' 'epithelial tumor of the appendix' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/UBERON_0000488 atypical epithelium 'atypical epithelium' SubClassOf 'epithelium' http://purl.obolibrary.org/obo/UBERON_0000487 simple squamous epithelium 'simple squamous epithelium' SubClassOf 'squamous epithelium' 'simple squamous epithelium' SubClassOf 'unilaminar epithelium' http://purl.obolibrary.org/obo/UBERON_0000486 multilaminar epithelium 'multilaminar epithelium' SubClassOf 'epithelium' http://purl.obolibrary.org/obo/UBERON_0000485 simple columnar epithelium 'simple columnar epithelium' SubClassOf 'unilaminar epithelium' 'simple columnar epithelium' SubClassOf 'columnar epithelium' http://purl.obolibrary.org/obo/MONDO_0018520 rare epithelial tumor of pancreas 'rare epithelial tumor of pancreas' SubClassOf 'has modifier' some 'rare' 'rare epithelial tumor of pancreas' SubClassOf 'pancreatic neoplasm' http://purl.obolibrary.org/obo/MONDO_0018521 squamous cell carcinoma of pancreas 'squamous cell carcinoma of pancreas' SubClassOf 'pancreatic carcinoma' 'squamous cell carcinoma of pancreas' SubClassOf 'has modifier' some 'rare' 'squamous cell carcinoma of pancreas' SubClassOf 'squamous cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0018539 rare epithelial tumor of small intestine 'rare epithelial tumor of small intestine' SubClassOf 'small intestine neoplasm' 'rare epithelial tumor of small intestine' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0018538 inherited digestive cancer-predisposing syndrome 'inherited digestive cancer-predisposing syndrome' EquivalentTo 'Inherited cancer-predisposing syndrome' and ('disease has feature' some 'digestive system cancer') 'inherited digestive cancer-predisposing syndrome' SubClassOf 'disease has feature' some 'digestive system cancer' 'inherited digestive cancer-predisposing syndrome' SubClassOf 'Inherited cancer-predisposing syndrome' http://purl.obolibrary.org/obo/MONDO_0018534 squamous cell carcinoma of liver and intrahepatic biliary tract 'squamous cell carcinoma of liver and intrahepatic biliary tract' EquivalentTo 'liver and intrahepatic bile duct neoplasm' and 'squamous cell carcinoma' 'squamous cell carcinoma of liver and intrahepatic biliary tract' SubClassOf 'carcinoma of liver and intrahepatic biliary tract' 'squamous cell carcinoma of liver and intrahepatic biliary tract' SubClassOf 'squamous cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0018537 squamous cell carcinoma of gallbladder and extrahepatic biliary tract 'squamous cell carcinoma of gallbladder and extrahepatic biliary tract' SubClassOf 'Extrahepatic Bile Duct Squamous Cell Carcinoma' 'squamous cell carcinoma of gallbladder and extrahepatic biliary tract' SubClassOf 'carcinoma of gallbladder and extrahepatic biliary tract' 'squamous cell carcinoma of gallbladder and extrahepatic biliary tract' EquivalentTo 'carcinoma of gallbladder and extrahepatic biliary tract' and 'squamous cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0018536 adenocarcinoma of gallbladder and extrahepatic biliary tract 'adenocarcinoma of gallbladder and extrahepatic biliary tract' SubClassOf 'extrahepatic bile duct adenocarcinoma' 'adenocarcinoma of gallbladder and extrahepatic biliary tract' SubClassOf 'carcinoma of gallbladder and extrahepatic biliary tract' 'adenocarcinoma of gallbladder and extrahepatic biliary tract' EquivalentTo 'carcinoma of gallbladder and extrahepatic biliary tract' and 'adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0018531 carcinoma of liver and intrahepatic biliary tract 'carcinoma of liver and intrahepatic biliary tract' SubClassOf 'liver cancer' 'carcinoma of liver and intrahepatic biliary tract' SubClassOf 'Digestive System Carcinoma' 'carcinoma of liver and intrahepatic biliary tract' SubClassOf 'rare epithelial tumor of liver and intrahepatic biliary tract' http://purl.obolibrary.org/obo/MONDO_0018530 rare epithelial tumor of liver and intrahepatic biliary tract 'rare epithelial tumor of liver and intrahepatic biliary tract' EquivalentTo 'liver and intrahepatic bile duct neoplasm' and 'epithelial neoplasm' 'rare epithelial tumor of liver and intrahepatic biliary tract' SubClassOf 'epithelial neoplasm' 'rare epithelial tumor of liver and intrahepatic biliary tract' SubClassOf 'has modifier' some 'rare' 'rare epithelial tumor of liver and intrahepatic biliary tract' SubClassOf 'liver and intrahepatic bile duct neoplasm' http://purl.obolibrary.org/obo/MONDO_0018533 undifferentiated carcinoma of liver and intrahepatic biliary tract 'undifferentiated carcinoma of liver and intrahepatic biliary tract' SubClassOf 'carcinoma of liver and intrahepatic biliary tract' 'undifferentiated carcinoma of liver and intrahepatic biliary tract' SubClassOf 'undifferentiated carcinoma' 'undifferentiated carcinoma of liver and intrahepatic biliary tract' EquivalentTo 'liver and intrahepatic bile duct neoplasm' and 'undifferentiated carcinoma' http://purl.obolibrary.org/obo/MONDO_0018532 adenocarcinoma of liver and intrahepatic biliary tract 'adenocarcinoma of liver and intrahepatic biliary tract' SubClassOf 'carcinoma of liver and intrahepatic biliary tract' 'adenocarcinoma of liver and intrahepatic biliary tract' EquivalentTo 'liver and intrahepatic bile duct neoplasm' and 'adenocarcinoma' 'adenocarcinoma of liver and intrahepatic biliary tract' SubClassOf 'adenocarcinoma' http://purl.obolibrary.org/obo/UBERON_6004663 prothoracic leg 'prothoracic leg' SubClassOf 'insect leg' http://purl.obolibrary.org/obo/MONDO_0018559 fetal lower urinary tract obstruction 'fetal lower urinary tract obstruction' SubClassOf 'Genetic renal or urinary tract malformation' 'fetal lower urinary tract obstruction' SubClassOf 'Genetic urogenital tract malformation' http://purl.obolibrary.org/obo/MONDO_0018558 syndrome with woolly hair 'syndrome with woolly hair' SubClassOf 'Syndromic hair shaft abnormality' http://purl.obolibrary.org/obo/MONDO_0018555 hypogonadotropic hypogonadism 'hypogonadotropic hypogonadism' SubClassOf 'hypogonadism' http://purl.obolibrary.org/obo/MONDO_0018550 spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder 'spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder' SubClassOf 'syndromic hereditary optic neuropathy' 'spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder' SubClassOf 'Hereditary motor and sensory neuropathy' 'spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder' SubClassOf 'facial paralysis' 'spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder' SubClassOf 'eye degenerative disease' 'spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder' SubClassOf 'Autosomal recessive complex spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0018563 adactyly of foot 'adactyly of foot' SubClassOf 'Terminal limb defects' http://purl.obolibrary.org/obo/MONDO_0018565 congenital urachal anomaly 'congenital urachal anomaly' SubClassOf 'non-syndromic urogenital tract malformation of male and female' 'congenital urachal anomaly' SubClassOf 'Genetic non-syndromic renal or urinary tract malformation' http://purl.obolibrary.org/obo/MONDO_0018562 genetic otorhinolaryngological malformation 'genetic otorhinolaryngological malformation' SubClassOf 'genetic otorhinolaryngologic disease' 'genetic otorhinolaryngological malformation' SubClassOf 'Genetic head and neck malformation' http://purl.obolibrary.org/obo/MONDO_0018561 precocious puberty in female 'precocious puberty in female' SubClassOf 'precocious puberty' 'precocious puberty in female' SubClassOf 'anomaly of puberty or/and menstrual cycle' http://purl.obolibrary.org/obo/MONDO_0006596 photoallergic dermatitis 'photoallergic dermatitis' SubClassOf 'allergic contact dermatitis' 'photoallergic dermatitis' SubClassOf 'photosensitivity disease' 'photoallergic dermatitis' EquivalentTo 'allergic contact dermatitis' and 'photosensitivity disease' http://purl.obolibrary.org/obo/MONDO_0018590 ABeta2M amyloidosis 'ABeta2M amyloidosis' SubClassOf 'amyloidosis' http://purl.obolibrary.org/obo/MONDO_0043510 brain injury 'brain injury' SubClassOf 'brain disease' 'brain injury' SubClassOf 'nervous system injury' http://purl.obolibrary.org/obo/MONDO_0043579 enteritis 'enteritis' SubClassOf 'gastroenteritis' 'enteritis' SubClassOf 'small intestine disease' http://purl.obolibrary.org/obo/UBERON_0012520 forelimb epitrochlearis muscle 'forelimb epitrochlearis muscle' SubClassOf 'forelimb muscle' http://purl.obolibrary.org/obo/UBERON_0000379 tracheal mucosa 'tracheal mucosa' SubClassOf 'respiratory system mucosa' http://purl.obolibrary.org/obo/UBERON_0012360 bone of jaw 'bone of jaw' SubClassOf 'facial bone' http://purl.obolibrary.org/obo/UBERON_0012363 thyroid follicle epithelium 'thyroid follicle epithelium' SubClassOf 'simple cuboidal epithelium' 'thyroid follicle epithelium' SubClassOf 'endo-epithelium' http://purl.obolibrary.org/obo/UBERON_0000370 adductor magnus 'adductor magnus' SubClassOf 'hindlimb stylopod muscle' 'adductor magnus' SubClassOf 'adductor muscle of hip' http://purl.obolibrary.org/obo/UBERON_0000372 extensor digitorum brevis pes 'extensor digitorum brevis pes' SubClassOf 'muscle of pes' 'extensor digitorum brevis pes' SubClassOf 'extensor muscle' http://purl.obolibrary.org/obo/UBERON_0000371 syncytiotrophoblast 'syncytiotrophoblast' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0000378 tongue muscle 'tongue muscle' SubClassOf 'craniocervical muscle' http://purl.obolibrary.org/obo/UBERON_0000377 maxillary nerve 'maxillary nerve' SubClassOf 'nerve of head region' http://purl.obolibrary.org/obo/UBERON_0000375 mandibular nerve 'mandibular nerve' SubClassOf 'nerve of head region' http://purl.obolibrary.org/obo/UBERON_0012350 carpal pad 'carpal pad' SubClassOf 'manual autopod pad' 'carpal pad' SubClassOf 'skin of wrist' http://purl.obolibrary.org/obo/UBERON_0012357 digitopodium bone 'digitopodium bone' SubClassOf 'autopod bone' http://purl.obolibrary.org/obo/UBERON_0012358 manual digitopodium bone 'manual digitopodium bone' SubClassOf 'digitopodium bone' 'carpal bone' DisjointWith 'manual digitopodium bone' 'manual digitopodium bone' SubClassOf 'manus bone' http://purl.obolibrary.org/obo/UBERON_0012359 pedal digitopodium bone 'pedal digitopodium bone' SubClassOf 'digitopodium bone' 'pedal digitopodium bone' SubClassOf 'pes bone' 'tarsal bone' DisjointWith 'pedal digitopodium bone' http://purl.obolibrary.org/obo/UBERON_0000381 urinary bladder detrusor smooth muscle 'urinary bladder detrusor smooth muscle' SubClassOf 'urinary bladder smooth muscle' http://purl.obolibrary.org/obo/UBERON_0000392 longissimus muscle 'longissimus muscle' SubClassOf 'muscle of vertebral column' http://purl.obolibrary.org/obo/UBERON_0000391 leptomeninx 'leptomeninx' SubClassOf 'meninx' http://purl.obolibrary.org/obo/UBERON_0000395 cochlear ganglion 'cochlear ganglion' SubClassOf 'cranial ganglion' http://purl.obolibrary.org/obo/UBERON_0000399 jejunal mucosa 'jejunal mucosa' SubClassOf 'mucosa of small intestine' http://purl.obolibrary.org/obo/UBERON_0000397 colonic epithelium 'colonic epithelium' SubClassOf 'epithelium of large intestine' http://purl.obolibrary.org/obo/UBERON_0012320 cervical artery 'cervical artery' SubClassOf 'artery' 'cervical artery' SubClassOf 'neck blood vessel' http://purl.obolibrary.org/obo/UBERON_0012324 transverse cervical artery 'transverse cervical artery' SubClassOf 'cervical artery' http://purl.obolibrary.org/obo/UBERON_0012321 deep cervical artery 'deep cervical artery' SubClassOf 'cervical artery' http://purl.obolibrary.org/obo/UBERON_0012322 ascending cervical artery 'ascending cervical artery' SubClassOf 'cervical artery' http://purl.obolibrary.org/obo/UBERON_0012325 retrocerebral complex 'retrocerebral complex' SubClassOf 'endocrine gland' http://purl.obolibrary.org/obo/UBERON_0012329 keratinized stratified squamous epithelium 'non-keratinized stratified squamous epithelium' DisjointWith 'keratinized stratified squamous epithelium' 'keratinized stratified squamous epithelium' SubClassOf 'stratified squamous epithelium' http://purl.obolibrary.org/obo/UBERON_0000333 intestinal gland 'intestinal gland' SubClassOf 'gland of digestive tract' http://purl.obolibrary.org/obo/UBERON_0000332 yellow bone marrow 'yellow bone marrow' SubClassOf 'bone marrow' http://purl.obolibrary.org/obo/UBERON_0000331 ileal mucosa 'ileal mucosa' SubClassOf 'mucosa of small intestine' http://purl.obolibrary.org/obo/UBERON_0000348 ophthalmic nerve 'ophthalmic nerve' SubClassOf 'nerve of head region' http://purl.obolibrary.org/obo/UBERON_0036300 tributary of central retinal vein 'tributary of central retinal vein' SubClassOf 'head blood vessel' 'tributary of central retinal vein' SubClassOf 'craniocervical region vein' http://purl.obolibrary.org/obo/UBERON_0012312 maxillary process ectoderm 'maxillary process ectoderm' SubClassOf 'unilaminar epithelium' http://purl.obolibrary.org/obo/UBERON_0036301 vasculature of spleen 'vasculature of spleen' SubClassOf 'vasculature of organ' 'vasculature of spleen' SubClassOf 'vasculature of trunk' http://purl.obolibrary.org/obo/UBERON_0036302 vasculature of central nervous system plus retina 'vasculature of central nervous system plus retina' SubClassOf 'vasculature' http://purl.obolibrary.org/obo/UBERON_0012313 1st arch maxillary ectoderm '1st arch maxillary ectoderm' SubClassOf 'foregut epithelium' '1st arch maxillary ectoderm' SubClassOf 'ecto-epithelium' '1st arch maxillary ectoderm' SubClassOf 'unilaminar epithelium' http://purl.obolibrary.org/obo/UBERON_0036303 vasculature of central nervous system 'vasculature of central nervous system' SubClassOf 'vasculature of central nervous system plus retina' http://purl.obolibrary.org/obo/UBERON_0012310 deep lateral cervical lymph node 'deep lateral cervical lymph node' SubClassOf 'deep cervical lymph node' 'deep lateral cervical lymph node' SubClassOf 'lateral cervical lymph node' http://purl.obolibrary.org/obo/UBERON_0012311 deep anterior cervical lymph node 'deep anterior cervical lymph node' SubClassOf 'deep cervical lymph node' 'deep anterior cervical lymph node' SubClassOf 'anterior cervical lymph node' http://purl.obolibrary.org/obo/UBERON_0012314 embryonic facial prominence 'embryonic facial prominence' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0012318 anterior ethmoidal artery 'anterior ethmoidal artery' SubClassOf 'ethmoidal artery' 'anterior ethmoidal artery' DisjointWith 'posterior ethmoidal artery' http://purl.obolibrary.org/obo/UBERON_0012319 posterior ethmoidal artery 'posterior ethmoidal artery' SubClassOf 'ethmoidal artery' 'anterior ethmoidal artery' DisjointWith 'posterior ethmoidal artery' http://purl.obolibrary.org/obo/UBERON_0000359 preputial gland 'preputial gland' SubClassOf 'modified sebaceous gland' 'preputial gland' SubClassOf 'reproductive gland' http://purl.obolibrary.org/obo/UBERON_0012344 holocrine gland 'holocrine gland' SubClassOf 'exocrine gland' http://purl.obolibrary.org/obo/UBERON_0012349 digital pad 'digital pad' SubClassOf 'autopod pad' http://purl.obolibrary.org/obo/UBERON_0012348 autopod pad 'autopod pad' SubClassOf 'autopod skin' http://purl.obolibrary.org/obo/UBERON_0000351 nuchal ligament 'nuchal ligament' SubClassOf 'skeletal ligament' http://purl.obolibrary.org/obo/UBERON_0000355 pharyngeal mucosa 'pharyngeal mucosa' SubClassOf 'respiratory system mucosa' http://purl.obolibrary.org/obo/UBERON_0000368 adductor brevis 'adductor brevis' SubClassOf 'hindlimb stylopod muscle' 'adductor brevis' SubClassOf 'adductor muscle of hip' http://purl.obolibrary.org/obo/UBERON_0012330 nasal-associated lymphoid tissue 'nasal-associated lymphoid tissue' SubClassOf 'gut-associated lymphoid tissue' http://purl.obolibrary.org/obo/UBERON_0012332 broad ligament of uterus 'broad ligament of uterus' SubClassOf 'ligament' http://purl.obolibrary.org/obo/UBERON_0012333 ovarian bursa 'ovarian bursa' SubClassOf 'fold of peritoneum' http://purl.obolibrary.org/obo/UBERON_0012336 perianal skin 'perianal skin' SubClassOf 'skin of pelvis' http://purl.obolibrary.org/obo/UBERON_0000361 red bone marrow 'red bone marrow' SubClassOf 'bone marrow' http://purl.obolibrary.org/obo/UBERON_0000366 flexor muscle 'flexor muscle' SubClassOf 'skeletal muscle organ' http://purl.obolibrary.org/obo/MONDO_0018403 female infertility due to an implantation defect 'female infertility due to an implantation defect' SubClassOf 'disorder of development or morphogenesis' 'female infertility due to an implantation defect' SubClassOf 'has modifier' some 'rare' 'female infertility due to an implantation defect' SubClassOf 'female infertility' http://purl.obolibrary.org/obo/MONDO_0018401 female infertility due to an anomaly of ovarian function 'female infertility due to an anomaly of ovarian function' SubClassOf 'female infertility' http://purl.obolibrary.org/obo/MONDO_0018400 rare female infertility due to an adrenal disorder 'rare female infertility due to an adrenal disorder' SubClassOf 'female infertility due to hypothalamic-pituitary-gonadal axis disorder' http://purl.obolibrary.org/obo/MONDO_0018438 eosinophilic gastrointestinal disease 'eosinophilic gastrointestinal disease' SubClassOf 'has modifier' some 'rare' 'eosinophilic gastrointestinal disease' SubClassOf 'disease' http://purl.obolibrary.org/obo/MONDO_0043424 digestive system infectious disease 'digestive system infectious disease' SubClassOf 'digestive system disease' 'digestive system infectious disease' SubClassOf 'infectious disease' http://purl.obolibrary.org/obo/MONDO_0018470 renal agenesis (disease) 'renal agenesis (disease)' SubClassOf 'Genetic non-syndromic renal or urinary tract malformation' http://purl.obolibrary.org/obo/MONDO_0018492 hereditary clear cell renal cell carcinoma 'hereditary clear cell renal cell carcinoma' SubClassOf 'clear cell renal carcinoma' 'hereditary clear cell renal cell carcinoma' EquivalentTo 'clear cell renal carcinoma' and ('has modifier' some 'inherited') 'hereditary clear cell renal cell carcinoma' SubClassOf 'hereditary renal cell carcinoma' 'hereditary clear cell renal cell carcinoma' SubClassOf 'Inherited renal cancer-predisposing syndrome' http://purl.obolibrary.org/obo/MONDO_0018491 3-phosphoglycerate dehydrogenase deficiency '3-phosphoglycerate dehydrogenase deficiency' SubClassOf 'Neurometabolic disorder due to serine deficiency' http://purl.obolibrary.org/obo/MONDO_0018488 rare genetic odontal or periodontal disorder 'rare genetic odontal or periodontal disorder' SubClassOf 'Rare genetic odontologic disease' http://purl.obolibrary.org/obo/MONDO_0018496 arx-related encephalopathy-brain malformation spectrum 'arx-related encephalopathy-brain malformation spectrum' SubClassOf 'Syndromic urogenital tract malformation' 'arx-related encephalopathy-brain malformation spectrum' SubClassOf 'ARX-related epileptic encephalopathy' 'arx-related encephalopathy-brain malformation spectrum' SubClassOf 'syndrome with corpus callosum agenesis /dysgenesis as a major feature' 'arx-related encephalopathy-brain malformation spectrum' SubClassOf 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature' 'arx-related encephalopathy-brain malformation spectrum' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0043479 adenoviridae infectious disease 'adenoviridae infectious disease' SubClassOf 'viral disease' http://purl.obolibrary.org/obo/UBERON_0000414 mucous gland 'mucous gland' DisjointWith 'granular gland' 'mucous gland' SubClassOf 'exocrine gland' http://purl.obolibrary.org/obo/UBERON_0000410 bronchial mucosa 'bronchial mucosa' SubClassOf 'tracheal mucosa' http://purl.obolibrary.org/obo/UBERON_0000426 extravillous trophoblast 'extravillous trophoblast' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0000428 prostate epithelium 'prostate epithelium' SubClassOf 'meso-epithelium' 'prostate epithelium' SubClassOf 'endo-epithelium' 'prostate epithelium' SubClassOf 'simple columnar epithelium' http://purl.obolibrary.org/obo/UBERON_0000420 myoepithelium 'myoepithelium' SubClassOf 'atypical epithelium' http://purl.obolibrary.org/obo/UBERON_0012416 respiratory system arterial smooth muscle 'respiratory system arterial smooth muscle' SubClassOf 'arterial system smooth muscle' 'respiratory system arterial smooth muscle' SubClassOf 'respiratory system blood vessel smooth muscle' http://purl.obolibrary.org/obo/UBERON_0012418 respiratory system venous smooth muscle 'respiratory system venous smooth muscle' SubClassOf 'venous system smooth muscle' http://purl.obolibrary.org/obo/UBERON_0000444 lymphoid follicle 'lymphoid follicle' SubClassOf 'lymphoid tissue' http://purl.obolibrary.org/obo/UBERON_0000443 left testicular vein 'left testicular vein' SubClassOf 'testicular vein' http://purl.obolibrary.org/obo/UBERON_0000442 right testicular vein 'right testicular vein' SubClassOf 'testicular vein' http://purl.obolibrary.org/obo/UBERON_0000408 vertebral ganglion 'vertebral ganglion' SubClassOf 'paravertebral ganglion' http://purl.obolibrary.org/obo/UBERON_0000409 serous gland 'serous gland' SubClassOf 'exocrine gland' http://purl.obolibrary.org/obo/UBERON_0000400 jejunal epithelium 'jejunal epithelium' SubClassOf 'epithelium of intestinal villus' http://purl.obolibrary.org/obo/MONDO_0008903 lung cancer 'lung cancer' SubClassOf 'lung neoplasm' 'lung cancer' SubClassOf 'thoracic cancer' 'lung cancer' SubClassOf 'respiratory system cancer' http://purl.obolibrary.org/obo/UBERON_0010496 teres minor muscle 'teres minor muscle' SubClassOf 'teres muscle' 'teres minor muscle' SubClassOf 'pectoral complex muscle' http://purl.obolibrary.org/obo/UBERON_0010498 pseudostratified columnar epithelium 'pseudostratified columnar epithelium' SubClassOf 'simple columnar epithelium' http://purl.obolibrary.org/obo/UBERON_0010499 pseudostratified ciliated columnar epithelium 'pseudostratified ciliated columnar epithelium' SubClassOf 'pseudostratified columnar epithelium' 'pseudostratified ciliated columnar epithelium' DisjointWith 'pseudostratified smooth columnar epithelium' 'pseudostratified ciliated columnar epithelium' SubClassOf 'ciliated columnar epithelium' http://purl.obolibrary.org/obo/MONDO_0021925 tracheobronchitis 'tracheobronchitis' SubClassOf 'lower respiratory tract disease' 'tracheobronchitis' SubClassOf 'inflammatory disease' http://purl.obolibrary.org/obo/UBERON_6000094 clypeo-labral anlage in statu nascendi 'clypeo-labral anlage in statu nascendi' SubClassOf 'anlage in statu nascendi' http://purl.obolibrary.org/obo/UBERON_6000097 cephalic furrow 'cephalic furrow' SubClassOf 'epithelial furrow' http://purl.obolibrary.org/obo/UBERON_6000096 ventral furrow 'ventral furrow' SubClassOf 'epithelial furrow' http://purl.obolibrary.org/obo/MONDO_0021944 auditory neuropathy 'auditory neuropathy' SubClassOf 'hearing loss' http://purl.obolibrary.org/obo/MONDO_0021945 hearing disorder 'hearing disorder' SubClassOf 'auditory system disease' 'hearing disorder' SubClassOf 'perceptual disorders' http://purl.obolibrary.org/obo/MONDO_0021953 tuberculous fibrosis of lung 'tuberculous fibrosis of lung' SubClassOf 'pulmonary fibrosis' 'tuberculous fibrosis of lung' SubClassOf 'pulmonary tuberculosis' 'tuberculous fibrosis of lung' SubClassOf 'respiratory tract infectious disease' 'tuberculous fibrosis of lung' EquivalentTo 'pulmonary fibrosis' and 'pulmonary tuberculosis' http://purl.obolibrary.org/obo/UBERON_6000030 abdominal segment 9 'abdominal segment 9' SubClassOf 'insect abdominal segment' http://purl.obolibrary.org/obo/UBERON_6000029 abdominal segment 8 'abdominal segment 8' SubClassOf 'insect abdominal segment' http://purl.obolibrary.org/obo/UBERON_6000021 insect abdominal segment 'insect abdominal segment' SubClassOf 'organismal segment' http://purl.obolibrary.org/obo/UBERON_6000019 metathoracic segment 'metathoracic segment' SubClassOf 'thoracic segment' http://purl.obolibrary.org/obo/UBERON_6000018 mesothoracic segment 'mesothoracic segment' SubClassOf 'thoracic segment' http://purl.obolibrary.org/obo/UBERON_6000011 gnathal segment 'gnathal segment' SubClassOf 'head segment' http://purl.obolibrary.org/obo/UBERON_6000014 labial segment 'labial segment' SubClassOf 'gnathal segment' http://purl.obolibrary.org/obo/UBERON_6000017 prothoracic segment 'prothoracic segment' SubClassOf 'thoracic segment' http://purl.obolibrary.org/obo/UBERON_6000016 thoracic segment 'thoracic segment' SubClassOf 'organismal segment' http://purl.obolibrary.org/obo/UBERON_6000128 trunk mesoderm 'trunk mesoderm' SubClassOf 'mesoderm' http://purl.obolibrary.org/obo/UBERON_0009500 periotic mesenchyme 'periotic mesenchyme' SubClassOf 'mesenchyme derived from head neural crest' http://purl.obolibrary.org/obo/UBERON_0010501 pseudostratified smooth columnar epithelium 'pseudostratified smooth columnar epithelium' SubClassOf 'pseudostratified columnar epithelium' 'pseudostratified ciliated columnar epithelium' DisjointWith 'pseudostratified smooth columnar epithelium' http://purl.obolibrary.org/obo/MONDO_0018365 malignant non-epithelial tumor of ovary 'malignant non-epithelial tumor of ovary' SubClassOf 'ovarian cancer' 'malignant non-epithelial tumor of ovary' DisjointWith 'Malignant epithelial tumor of ovary' http://purl.obolibrary.org/obo/UBERON_0009506 mesenchyme of middle ear 'mesenchyme of middle ear' SubClassOf 'head mesenchyme' http://purl.obolibrary.org/obo/UBERON_0010509 strand of pelage hair 'strand of pelage hair' SubClassOf 'strand of hair' http://purl.obolibrary.org/obo/UBERON_0009501 mesenchyme of fronto-nasal process 'mesenchyme of fronto-nasal process' SubClassOf 'mesenchyme derived from head neural crest' http://purl.obolibrary.org/obo/MONDO_0018379 primary avascular necrosis 'primary avascular necrosis' SubClassOf 'avascular necrosis' http://purl.obolibrary.org/obo/MONDO_0018373 avascular necrosis 'avascular necrosis' SubClassOf 'osteonecrosis' http://purl.obolibrary.org/obo/MONDO_0018374 secondary avascular necrosis 'secondary avascular necrosis' SubClassOf 'avascular necrosis' http://purl.obolibrary.org/obo/UBERON_6000104 mesoderm anlage 'mesoderm anlage' SubClassOf 'anlage' 'mesoderm anlage' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0009522 lateral lingual swelling epithelium 'lateral lingual swelling epithelium' SubClassOf 'unilaminar epithelium' 'lateral lingual swelling epithelium' SubClassOf 'digestive tract epithelium' http://purl.obolibrary.org/obo/UBERON_0009521 anal membrane endodermal component 'anal membrane endodermal component' SubClassOf 'endo-epithelium' 'anal membrane endodermal component' SubClassOf 'unilaminar epithelium' http://purl.obolibrary.org/obo/UBERON_0010524 fibularis tertius 'fibularis tertius' SubClassOf 'peroneus' http://purl.obolibrary.org/obo/UBERON_0010523 microcirculatory vessel 'microcirculatory vessel' SubClassOf 'vessel' http://purl.obolibrary.org/obo/UBERON_0010526 fibularis brevis 'fibularis brevis' SubClassOf 'peroneus' http://purl.obolibrary.org/obo/MONDO_0018387 rare male infertility due to adrenal disorder 'rare male infertility due to adrenal disorder' SubClassOf 'rare male infertility due to hypothalamic-pituitary-gonadal axis disorder' http://purl.obolibrary.org/obo/MONDO_0018386 rare male infertility due to hypothalamic-pituitary-gonadal axis disorder 'rare male infertility due to hypothalamic-pituitary-gonadal axis disorder' SubClassOf 'male infertility' 'rare male infertility due to hypothalamic-pituitary-gonadal axis disorder' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/UBERON_0010511 strand of awl hair 'strand of awl hair' SubClassOf 'strand of pelage hair' http://purl.obolibrary.org/obo/UBERON_0010510 strand of auchene hair 'strand of auchene hair' SubClassOf 'strand of pelage hair' http://purl.obolibrary.org/obo/UBERON_0010513 strand of zigzag hair 'strand of zigzag hair' SubClassOf 'hair of trunk' 'strand of zigzag hair' SubClassOf 'strand of pelage hair' http://purl.obolibrary.org/obo/UBERON_0010512 strand of guard hair 'strand of guard hair' SubClassOf 'strand of pelage hair' http://purl.obolibrary.org/obo/UBERON_0010515 brille 'brille' SubClassOf 'skin of face' http://purl.obolibrary.org/obo/UBERON_0010514 strand of duvet hair 'strand of duvet hair' SubClassOf 'strand of hair' http://purl.obolibrary.org/obo/UBERON_0009539 mesenchyme of submandibular gland primordium 'mesenchyme of submandibular gland primordium' SubClassOf 'mesenchyme of lower jaw' http://purl.obolibrary.org/obo/UBERON_0009537 vascular element of right lung 'vascular element of right lung' SubClassOf 'lung vasculature' 'vascular element of right lung' SubClassOf 'vascular plexus' http://purl.obolibrary.org/obo/UBERON_0009536 vascular element of left lung 'vascular element of left lung' SubClassOf 'lung vasculature' 'vascular element of left lung' SubClassOf 'vascular plexus' http://purl.obolibrary.org/obo/MONDO_0018397 female infertility due to hypothalamic-pituitary-gonadal axis disorder 'female infertility due to hypothalamic-pituitary-gonadal axis disorder' SubClassOf 'female infertility' http://purl.obolibrary.org/obo/MONDO_0018396 rare male fertility disorder with obstructive azoospermia 'rare male fertility disorder with obstructive azoospermia' SubClassOf 'male infertility due to obstructive azoospermia' http://purl.obolibrary.org/obo/UBERON_0009584 1st arch mandibular mesenchyme '1st arch mandibular mesenchyme' SubClassOf '1st arch mesenchyme' http://purl.obolibrary.org/obo/UBERON_0009583 spinal cord mantle layer 'spinal cord mantle layer' SubClassOf 'neural tube mantle layer' http://purl.obolibrary.org/obo/UBERON_0009581 midbrain mantle layer 'midbrain mantle layer' SubClassOf 'neural tube mantle layer' http://purl.obolibrary.org/obo/UBERON_0009549 hepatic sinusoid of right of lobe of liver 'hepatic sinusoid of right of lobe of liver' SubClassOf 'hepatic sinusoid' http://purl.obolibrary.org/obo/UBERON_0009548 hepatic sinusoid of left of lobe of liver 'hepatic sinusoid of left of lobe of liver' SubClassOf 'hepatic sinusoid' http://purl.obolibrary.org/obo/UBERON_0009555 short pastern bone 'short pastern bone' SubClassOf 'pastern bone' 'short pastern bone' SubClassOf 'middle phalanx of digit 3' http://purl.obolibrary.org/obo/UBERON_0010533 metanephros cortex 'metanephros cortex' SubClassOf 'cortex of kidney' http://purl.obolibrary.org/obo/UBERON_0010532 primitive nephron 'primitive nephron' SubClassOf 'epithelial tube' 'primitive nephron' SubClassOf 'kidney epithelium' http://purl.obolibrary.org/obo/UBERON_0010535 primitive metanephric nephron 'primitive metanephric nephron' SubClassOf 'primitive nephron' 'primitive metanephric nephron' SubClassOf 'metanephric tubule' http://purl.obolibrary.org/obo/UBERON_0010534 primitive mesonephric nephron 'primitive mesonephric nephron' SubClassOf 'primitive nephron' 'primitive mesonephric nephron' SubClassOf 'mesonephric tubule' http://purl.obolibrary.org/obo/UBERON_0009550 endoderm of foregut-midgut junction 'endoderm of foregut-midgut junction' SubClassOf 'endoderm' http://purl.obolibrary.org/obo/UBERON_0009559 metacarpal/tarsal-phalangeal joint 'metacarpal/tarsal-phalangeal joint' SubClassOf 'synovial limb joint' 'metacarpal/tarsal-phalangeal joint' SubClassOf 'autopod joint' http://purl.obolibrary.org/obo/UBERON_0009558 pastern bone 'pastern bone' SubClassOf 'phalanx' http://purl.obolibrary.org/obo/UBERON_0009556 long pastern bone 'long pastern bone' SubClassOf 'pastern bone' 'long pastern bone' SubClassOf 'proximal phalanx of digit 3' http://purl.obolibrary.org/obo/UBERON_0009565 nail of manual digit 'nail of manual digit' SubClassOf 'nail' http://purl.obolibrary.org/obo/UBERON_0009567 nail of pedal digit 'nail of pedal digit' SubClassOf 'nail' http://purl.obolibrary.org/obo/UBERON_0009580 diencephalon mantle layer 'diencephalon mantle layer' SubClassOf 'neural tube mantle layer' http://purl.obolibrary.org/obo/UBERON_0009571 ventral midline 'ventral midline' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0009579 myelencephalon basal plate 'myelencephalon basal plate' SubClassOf 'neural tube basal plate' http://purl.obolibrary.org/obo/UBERON_0010380 enteric nerve 'enteric nerve' SubClassOf 'nerve' http://purl.obolibrary.org/obo/UBERON_0010386 Peyer's patch follicle 'Peyer's patch follicle' SubClassOf 'lymphoid follicle' http://purl.obolibrary.org/obo/UBERON_0010389 pterygoid bone 'pterygoid bone' SubClassOf 'facial bone' 'pterygoid bone' SubClassOf 'palate bone' 'pterygoid bone' SubClassOf 'endochondral bone' 'pterygoid bone' SubClassOf 'neurocranium bone' http://purl.obolibrary.org/obo/UBERON_0022360 male mammary gland duct 'male mammary gland duct' SubClassOf 'mammary duct' http://purl.obolibrary.org/obo/UBERON_0022361 lung field 'lung field' SubClassOf 'anlage' http://purl.obolibrary.org/obo/UBERON_0022357 mesentery of ileum 'mesentery of ileum' SubClassOf 'mesentery of small intestine' http://purl.obolibrary.org/obo/UBERON_0022358 placenta blood vessel 'placenta blood vessel' SubClassOf 'blood vessel' http://purl.obolibrary.org/obo/UBERON_0010371 ecto-epithelium 'ecto-epithelium' SubClassOf 'epithelium' http://purl.obolibrary.org/obo/UBERON_0010370 tibial vein 'tibial vein' SubClassOf 'leg blood vessel' 'tibial vein' SubClassOf 'vein' http://purl.obolibrary.org/obo/UBERON_0010375 pancreas dorsal primordium 'pancreas dorsal primordium' SubClassOf 'primordium' 'pancreas dorsal primordium' SubClassOf 'presumptive structure' http://purl.obolibrary.org/obo/UBERON_0010376 pancreas ventral primordium 'pancreas ventral primordium' SubClassOf 'presumptive structure' 'pancreas ventral primordium' SubClassOf 'primordium' http://purl.obolibrary.org/obo/UBERON_0010379 superior tarsal muscle 'superior tarsal muscle' SubClassOf 'smooth muscle of eye' http://purl.obolibrary.org/obo/UBERON_0022355 basal layer of endometrium 'basal layer of endometrium' SubClassOf 'endometrium epithelium' http://purl.obolibrary.org/obo/UBERON_0022356 outer layer of endometrium 'outer layer of endometrium' SubClassOf 'endometrium epithelium' http://purl.obolibrary.org/obo/MONDO_0021804 silicotuberculosis 'silicotuberculosis' SubClassOf 'silicosis' 'silicotuberculosis' SubClassOf 'respiratory tract infectious disease' 'silicotuberculosis' EquivalentTo 'silicosis' and 'Tuberculosis' 'silicotuberculosis' SubClassOf 'pulmonary tuberculosis' http://purl.obolibrary.org/obo/UBERON_0010395 lymph node primary follicle 'lymph node primary follicle' SubClassOf 'primary nodular lymphoid tissue' 'lymph node primary follicle' SubClassOf 'lymph node follicle' http://purl.obolibrary.org/obo/UBERON_0010397 efferent lymphatic vessel 'efferent lymphatic vessel' SubClassOf 'lymphatic vessel' http://purl.obolibrary.org/obo/UBERON_0010396 afferent lymphatic vessel 'afferent lymphatic vessel' SubClassOf 'lymphatic vessel' http://purl.obolibrary.org/obo/UBERON_0010399 spleen trabecular artery 'spleen trabecular artery' SubClassOf 'systemic artery' 'spleen trabecular artery' SubClassOf 'abdomen blood vessel' http://purl.obolibrary.org/obo/MONDO_0008848 atrioventricular dissociation (disease) 'atrioventricular dissociation (disease)' SubClassOf 'inherited genetic disease' http://purl.obolibrary.org/obo/MONDO_0008856 immunodeficiency 27A 'immunodeficiency 27A' SubClassOf 'Mendelian susceptibility to mycobacterial diseases' http://purl.obolibrary.org/obo/UBERON_6110636 adult cerebral ganglion 'adult cerebral ganglion' SubClassOf 'supraesophageal ganglion' http://purl.obolibrary.org/obo/UBERON_6000181 embryonic abdominal segment 9 'embryonic abdominal segment 9' SubClassOf 'abdominal segment 9' 'embryonic abdominal segment 9' SubClassOf 'insect embryonic abdominal segment' http://purl.obolibrary.org/obo/UBERON_6000180 embryonic abdominal segment 8 'embryonic abdominal segment 8' SubClassOf 'insect embryonic abdominal segment' 'embryonic abdominal segment 8' SubClassOf 'abdominal segment 8' http://purl.obolibrary.org/obo/UBERON_6000170 embryonic metathoracic segment 'embryonic metathoracic segment' SubClassOf 'metathoracic segment' 'embryonic metathoracic segment' SubClassOf 'embryonic thoracic segment' http://purl.obolibrary.org/obo/UBERON_6000172 insect embryonic abdominal segment 'insect embryonic abdominal segment' SubClassOf 'insect abdominal segment' 'insect embryonic abdominal segment' SubClassOf 'embryonic segment' http://purl.obolibrary.org/obo/UBERON_6000165 embryonic labial segment 'embryonic labial segment' SubClassOf 'labial segment' 'embryonic labial segment' SubClassOf 'embryonic gnathal segment' http://purl.obolibrary.org/obo/UBERON_6000167 embryonic thoracic segment 'embryonic thoracic segment' SubClassOf 'embryonic segment' 'embryonic thoracic segment' SubClassOf 'thoracic segment' http://purl.obolibrary.org/obo/UBERON_6000169 embryonic mesothoracic segment 'embryonic mesothoracic segment' SubClassOf 'embryonic thoracic segment' 'embryonic mesothoracic segment' SubClassOf 'mesothoracic segment' http://purl.obolibrary.org/obo/UBERON_6000168 embryonic prothoracic segment 'embryonic prothoracic segment' SubClassOf 'prothoracic segment' 'embryonic prothoracic segment' SubClassOf 'embryonic thoracic segment' http://purl.obolibrary.org/obo/UBERON_6000160 embryonic antennal segment 'embryonic antennal segment' SubClassOf 'embryonic procephalic segment' 'embryonic antennal segment' SubClassOf 'antennal segment' http://purl.obolibrary.org/obo/UBERON_6000162 embryonic gnathal segment 'embryonic gnathal segment' SubClassOf 'gnathal segment' 'embryonic gnathal segment' SubClassOf 'embryonic head segment' http://purl.obolibrary.org/obo/MONDO_0018201 extragonadal germ cell tumor 'extragonadal germ cell tumor' SubClassOf 'germ cell tumor' 'extragonadal germ cell tumor' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0018202 gonadal germ cell tumor 'gonadal germ cell tumor' SubClassOf 'has modifier' some 'rare' 'gonadal germ cell tumor' SubClassOf 'germ cell tumor' http://purl.obolibrary.org/obo/UBERON_6000154 embryonic segment 'embryonic segment' SubClassOf 'organismal segment' http://purl.obolibrary.org/obo/UBERON_6000158 embryonic procephalic segment 'embryonic procephalic segment' SubClassOf 'embryonic head segment' 'embryonic procephalic segment' SubClassOf 'procephalic segment' http://purl.obolibrary.org/obo/UBERON_6000157 embryonic head segment 'embryonic head segment' SubClassOf 'embryonic segment' 'embryonic head segment' SubClassOf 'head segment' http://purl.obolibrary.org/obo/MONDO_0018215 paraneoplastic neurologic syndrome 'paraneoplastic neurologic syndrome' SubClassOf 'nervous system disease' 'paraneoplastic neurologic syndrome' SubClassOf 'has modifier' some 'rare' 'paraneoplastic neurologic syndrome' SubClassOf 'paraneoplastic syndrome' http://purl.obolibrary.org/obo/UBERON_6000130 visceral mesoderm 'visceral mesoderm' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/MONDO_0018234 dysostosis 'dysostosis' SubClassOf 'bone development disease' 'dysostosis' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0018233 otopalatodigital syndrome spectrum disorder 'otopalatodigital syndrome spectrum disorder' SubClassOf 'Primary bone dysplasia' 'otopalatodigital syndrome spectrum disorder' SubClassOf 'Filamin-related bone disorder' http://purl.obolibrary.org/obo/MONDO_0018235 dysostosis with limb anomaly as a major feature 'dysostosis with limb anomaly as a major feature' SubClassOf 'dysostosis' http://purl.obolibrary.org/obo/MONDO_0043218 neurovascular disease 'neurovascular disease' SubClassOf 'vascular disease' 'neurovascular disease' SubClassOf 'nervous system disease' http://purl.obolibrary.org/obo/MONDO_0018242 autoimmune hypoparathyroidism (disease) 'autoimmune hypoparathyroidism (disease)' SubClassOf 'autoimmune disease of endocrine system' 'autoimmune hypoparathyroidism (disease)' SubClassOf 'has modifier' some 'rare' 'autoimmune hypoparathyroidism (disease)' SubClassOf 'hypoparathyroidism' http://purl.obolibrary.org/obo/MONDO_0018271 peripheral primitive neuroectodermal tumor 'peripheral primitive neuroectodermal tumor' SubClassOf 'Ewing sarcoma/peripheral primitive neuroectodermal tumor' 'peripheral primitive neuroectodermal tumor' SubClassOf 'primitive neuroectodermal tumor' 'peripheral primitive neuroectodermal tumor' SubClassOf 'peripheral nervous system cancer' 'peripheral primitive neuroectodermal tumor' SubClassOf 'Malignant Germ Cell Tumor' 'peripheral primitive neuroectodermal tumor' SubClassOf 'central nervous system cancer' http://purl.obolibrary.org/obo/UBERON_0010401 spleen central arteriole 'spleen central arteriole' SubClassOf 'splenic arteriole' http://purl.obolibrary.org/obo/UBERON_0010400 spleen trabecular vein 'spleen trabecular vein' SubClassOf 'vein of abdomen' http://purl.obolibrary.org/obo/UBERON_0010406 cholinergic enteric nerve 'cholinergic enteric nerve' SubClassOf 'enteric nerve' http://purl.obolibrary.org/obo/UBERON_0010408 ocular angle artery 'ocular angle artery' SubClassOf 'systemic artery' http://purl.obolibrary.org/obo/MONDO_0018262 fetal anticonvulsant syndrome 'fetal anticonvulsant syndrome' SubClassOf 'toxic or drug-related embryofetopathy' http://purl.obolibrary.org/obo/MONDO_0043209 albinism 'albinism' SubClassOf 'inherited amino acid metabolic disorder' http://purl.obolibrary.org/obo/MONDO_0018274 GM3 synthase deficiency 'GM3 synthase deficiency' SubClassOf 'disease of catalytic activity' 'GM3 synthase deficiency' SubClassOf 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement' 'GM3 synthase deficiency' SubClassOf 'Congenital disorder of glycosylation with epilepsy as a major feature' 'GM3 synthase deficiency' SubClassOf 'Rare syndromic dyslipidemia' 'GM3 synthase deficiency' SubClassOf 'Congenital disorder of glycosylation with skin involvement' 'GM3 synthase deficiency' SubClassOf 'Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature' 'GM3 synthase deficiency' SubClassOf 'Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' http://purl.obolibrary.org/obo/MONDO_0018299 sphingolipidosis with epilepsy 'sphingolipidosis with epilepsy' SubClassOf 'lysosomal disease with epilepsy' 'sphingolipidosis with epilepsy' SubClassOf 'Sphingolipidosis' http://purl.obolibrary.org/obo/MONDO_0043243 leukoplakia 'leukoplakia' SubClassOf 'precancerous condition' http://purl.obolibrary.org/obo/UBERON_0009470 postsphenoidal bone 'postsphenoidal bone' SubClassOf 'facial bone' 'postsphenoidal bone' SubClassOf 'endochondral bone' 'postsphenoidal bone' SubClassOf 'neurocranium bone' http://purl.obolibrary.org/obo/UBERON_0010467 teres muscle 'teres muscle' SubClassOf 'muscle of shoulder' 'teres muscle' SubClassOf 'scapular muscle' http://purl.obolibrary.org/obo/UBERON_0009468 basiotic bone 'basiotic bone' SubClassOf 'neurocranium bone' http://purl.obolibrary.org/obo/UBERON_0009480 endoderm of buccopharyngeal membrane 'endoderm of buccopharyngeal membrane' SubClassOf 'endoderm' http://purl.obolibrary.org/obo/UBERON_0009477 associated mesenchyme of otic placode 'associated mesenchyme of otic placode' SubClassOf 'mesenchyme derived from head neural crest' http://purl.obolibrary.org/obo/UBERON_0009475 ampullar siphon 'ampullar siphon' SubClassOf 'appendage' http://purl.obolibrary.org/obo/UBERON_0009474 ascidian ampulla 'ascidian ampulla' SubClassOf 'appendage' http://purl.obolibrary.org/obo/UBERON_0009473 parapodium 'parapodium' SubClassOf 'appendage' http://purl.obolibrary.org/obo/UBERON_0009479 ectoderm of buccopharyngeal membrane 'ectoderm of buccopharyngeal membrane' SubClassOf 'ectoderm' http://purl.obolibrary.org/obo/UBERON_0009499 parietal of mesothelium of pericardio-peritoneal canal 'parietal of mesothelium of pericardio-peritoneal canal' SubClassOf 'pericardio-peritoneal canal mesothelium' http://purl.obolibrary.org/obo/UBERON_0009497 epithelium of foregut-midgut junction 'epithelium of foregut-midgut junction' SubClassOf 'unilaminar epithelium' 'epithelium of foregut-midgut junction' SubClassOf 'digestive tract epithelium' 'epithelium of foregut-midgut junction' SubClassOf 'endo-epithelium' http://purl.obolibrary.org/obo/UBERON_0009496 intrahepatic part of biliary bud 'intrahepatic part of biliary bud' SubClassOf 'endo-epithelium' 'intrahepatic part of biliary bud' SubClassOf 'epithelial sac' http://purl.obolibrary.org/obo/UBERON_0009495 extrahepatic part of biliary bud 'extrahepatic part of biliary bud' SubClassOf 'endo-epithelium' 'extrahepatic part of biliary bud' SubClassOf 'epithelial sac' http://purl.obolibrary.org/obo/UBERON_0009494 pharyngeal arch mesenchymal region 'pharyngeal arch mesenchymal region' SubClassOf 'head mesenchyme' http://purl.obolibrary.org/obo/UBERON_0010421 spleen B cell corona 'spleen B cell corona' SubClassOf 'secondary follicle corona' http://purl.obolibrary.org/obo/UBERON_0010420 lymph node follicular corona 'lymph node follicular corona' SubClassOf 'secondary follicle corona' http://purl.obolibrary.org/obo/UBERON_0010423 primary lymphoid nodule of tonsil 'primary lymphoid nodule of tonsil' SubClassOf 'primary nodular lymphoid tissue' http://purl.obolibrary.org/obo/UBERON_0010422 primary nodular lymphoid tissue 'primary nodular lymphoid tissue' SubClassOf 'lymphoid follicle' http://purl.obolibrary.org/obo/UBERON_0010428 flat bone 'flat bone' SubClassOf 'bone' http://purl.obolibrary.org/obo/UBERON_0010410 inguinal fat pad 'inguinal fat pad' SubClassOf 'fat pad' http://purl.obolibrary.org/obo/UBERON_0010412 epididymal fat pad 'epididymal fat pad' SubClassOf 'fat pad' http://purl.obolibrary.org/obo/UBERON_0010411 retroperitoneal fat pad 'retroperitoneal fat pad' SubClassOf 'abdominal fat pad' http://purl.obolibrary.org/obo/UBERON_0010414 omental fat pad 'omental fat pad' SubClassOf 'retroperitoneal fat pad' http://purl.obolibrary.org/obo/UBERON_0010413 parametrial fat pad 'parametrial fat pad' SubClassOf 'mesenteric fat pad' 'parametrial fat pad' SubClassOf 'uterine fat pad' http://purl.obolibrary.org/obo/UBERON_0010419 vibrissa follicle 'vibrissa follicle' SubClassOf 'hair follicle' http://purl.obolibrary.org/obo/UBERON_0010437 zygomaticus muscle 'zygomaticus muscle' SubClassOf 'facial muscle' http://purl.obolibrary.org/obo/UBERON_0022280 epithelium of crypt of Lieberkuhn of small intestine 'epithelium of crypt of Lieberkuhn of small intestine' SubClassOf 'epithelium of crypt of Lieberkuhn' 'epithelium of crypt of Lieberkuhn of small intestine' SubClassOf 'epithelium of small intestine' http://purl.obolibrary.org/obo/UBERON_0022281 epithelium of crypt of Lieberkuhn of large intestine 'epithelium of crypt of Lieberkuhn of large intestine' SubClassOf 'epithelium of large intestine' 'epithelium of crypt of Lieberkuhn of large intestine' SubClassOf 'epithelium of crypt of Lieberkuhn' http://purl.obolibrary.org/obo/UBERON_0022284 lacrimal gland bud 'lacrimal gland bud' SubClassOf 'epithelial bud' 'lacrimal gland bud' SubClassOf 'eye epithelium' http://purl.obolibrary.org/obo/UBERON_0022285 strand of tylotrich hair 'strand of tylotrich hair' SubClassOf 'strand of hair' http://purl.obolibrary.org/obo/UBERON_0022287 tear film 'tear film' SubClassOf 'bodily fluid' http://purl.obolibrary.org/obo/UBERON_0010294 scleral endothelium 'scleral endothelium' SubClassOf 'endothelium' 'scleral endothelium' SubClassOf 'eye epithelium' http://purl.obolibrary.org/obo/UBERON_0010298 intramembranous scleral ossicle 'intramembranous scleral ossicle' SubClassOf 'facial bone' 'intramembranous scleral ossicle' SubClassOf 'intramembranous bone' http://purl.obolibrary.org/obo/UBERON_0010297 endochondral scleral ossicle 'endochondral scleral ossicle' SubClassOf 'endochondral bone' 'endochondral scleral ossicle' SubClassOf 'facial bone' http://purl.obolibrary.org/obo/UBERON_0022279 strand of hair on external ear 'strand of hair on external ear' SubClassOf 'hair of head' http://purl.obolibrary.org/obo/UBERON_0022292 splenic arteriole 'splenic arteriole' SubClassOf 'arteriole' 'splenic arteriole' SubClassOf 'abdomen blood vessel' http://purl.obolibrary.org/obo/UBERON_0022296 inferior palpebral branch of infra-orbital nerve 'inferior palpebral branch of infra-orbital nerve' SubClassOf 'palpebral branch of infra-orbital nerve' 'inferior palpebral branch of infra-orbital nerve' SubClassOf 'lower eyelid nerve' http://purl.obolibrary.org/obo/UBERON_0022297 palpebral branch of infra-orbital nerve 'palpebral branch of infra-orbital nerve' SubClassOf 'nerve of head region' 'palpebral branch of infra-orbital nerve' SubClassOf 'eyelid nerve' http://purl.obolibrary.org/obo/UBERON_0022298 lower eyelid nerve 'lower eyelid nerve' SubClassOf 'eyelid nerve' http://purl.obolibrary.org/obo/UBERON_0022299 upper eyelid nerve 'upper eyelid nerve' SubClassOf 'eyelid nerve' http://purl.obolibrary.org/obo/UBERON_0010260 umbilical blood vessel 'umbilical blood vessel' SubClassOf 'blood vessel' http://purl.obolibrary.org/obo/UBERON_0010265 mollusc hepatopancreas 'mollusc hepatopancreas' SubClassOf 'hepatopancreas' http://purl.obolibrary.org/obo/UBERON_0010264 hepatopancreas 'hepatopancreas' SubClassOf 'digestive system gland' 'liver' DisjointWith 'hepatopancreas' 'pancreas' DisjointWith 'hepatopancreas' 'hepatopancreas' SubClassOf 'gland of digestive tract' http://purl.obolibrary.org/obo/UBERON_0010266 arthropod hepatopancreas 'arthropod hepatopancreas' SubClassOf 'hepatopancreas' http://purl.obolibrary.org/obo/UBERON_0010250 middle meningeal artery 'middle meningeal artery' SubClassOf 'meningeal artery' http://purl.obolibrary.org/obo/UBERON_0010252 1st arch mandibular mesenchyme from neural crest '1st arch mandibular mesenchyme from neural crest' SubClassOf '1st arch mesenchyme from neural crest' '1st arch mandibular mesenchyme from neural crest' SubClassOf '1st arch mandibular mesenchyme' http://purl.obolibrary.org/obo/UBERON_0010251 anterior meningeal artery 'posterior meningeal artery' DisjointWith 'anterior meningeal artery' 'anterior meningeal artery' SubClassOf 'meningeal artery' 'anterior meningeal artery' SubClassOf 'systemic artery' 'anterior meningeal artery' SubClassOf 'head blood vessel' http://purl.obolibrary.org/obo/UBERON_0010254 2nd arch mesenchyme from neural crest '2nd arch mesenchyme from neural crest' SubClassOf '2nd arch mesenchyme' '2nd arch mesenchyme from neural crest' SubClassOf 'mesenchyme from rhombencephalic neural crest' http://purl.obolibrary.org/obo/UBERON_0010253 1st arch maxillary mesenchyme from neural crest '1st arch maxillary mesenchyme from neural crest' SubClassOf '1st arch mesenchyme from neural crest' '1st arch maxillary mesenchyme from neural crest' SubClassOf '1st arch maxillary mesenchyme' http://purl.obolibrary.org/obo/UBERON_0010256 4th arch mesenchyme from neural crest '4th arch mesenchyme from neural crest' SubClassOf '4th arch mesenchyme' '4th arch mesenchyme from neural crest' SubClassOf 'mesenchyme from rhombencephalic neural crest' http://purl.obolibrary.org/obo/UBERON_0010255 3rd arch mesenchyme from neural crest '3rd arch mesenchyme from neural crest' SubClassOf 'mesenchyme from rhombencephalic neural crest' '3rd arch mesenchyme from neural crest' SubClassOf '3rd arch mesenchyme' http://purl.obolibrary.org/obo/UBERON_0010258 mesenchyme from rhombencephalic neural crest 'mesenchyme from rhombencephalic neural crest' SubClassOf 'mesenchyme derived from head neural crest' http://purl.obolibrary.org/obo/UBERON_0010257 6th arch mesenchyme from neural crest '6th arch mesenchyme from neural crest' SubClassOf '6th arch mesenchyme' '6th arch mesenchyme from neural crest' SubClassOf 'mesenchyme from rhombencephalic neural crest' http://purl.obolibrary.org/obo/UBERON_0010259 1st arch mesenchyme from neural crest '1st arch mesenchyme from neural crest' SubClassOf 'mesenchyme from rhombencephalic neural crest' '1st arch mesenchyme from neural crest' SubClassOf '1st arch mesenchyme' http://purl.obolibrary.org/obo/UBERON_0009293 embryonic frontal process 'embryonic frontal process' SubClassOf 'embryonic facial prominence' http://purl.obolibrary.org/obo/UBERON_0009292 embryonic nasal process 'embryonic nasal process' SubClassOf 'embryonic facial prominence' http://purl.obolibrary.org/obo/UBERON_0010289 scleral cartilage 'scleral cartilage' SubClassOf 'cartilage element of chondrocranium' http://purl.obolibrary.org/obo/UBERON_0010271 musculus retractor bulbi 'musculus retractor bulbi' SubClassOf 'extra-ocular muscle' http://purl.obolibrary.org/obo/UBERON_0010277 mesocardium 'mesocardium' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/MONDO_0008734 adrenocortical carcinoma, hereditary 'adrenocortical carcinoma, hereditary' EquivalentTo 'adrenal cortex carcinoma' and ('has modifier' some 'inherited') 'adrenocortical carcinoma, hereditary' SubClassOf 'hereditary renal cell carcinoma' 'adrenocortical carcinoma, hereditary' SubClassOf 'adrenal cortex carcinoma' 'adrenocortical carcinoma, hereditary' SubClassOf 'rare genetic vascular tumor' http://purl.obolibrary.org/obo/MONDO_0021718 polyneuritis 'polyneuritis' SubClassOf 'neuritis' 'polyneuritis' SubClassOf 'polyneuropathy' 'polyneuritis' EquivalentTo 'neuritis' and 'polyneuropathy' http://purl.obolibrary.org/obo/MONDO_0021747 Acanthamoeba infectious disease 'Acanthamoeba infectious disease' SubClassOf 'infectious disease' http://purl.obolibrary.org/obo/MONDO_0008785 sideroblastic anemia 2 'sideroblastic anemia 2' SubClassOf 'Autosomal recessive sideroblastic anemia' http://purl.obolibrary.org/obo/UBERON_0012925 bronchial bud 'bronchial bud' SubClassOf 'epithelial bud' 'bronchial bud' SubClassOf 'endo-epithelium' http://purl.obolibrary.org/obo/UBERON_0000942 frontal nerve (branch of ophthalmic) 'frontal nerve (branch of ophthalmic)' SubClassOf 'nerve of head region' http://purl.obolibrary.org/obo/UBERON_0000950 gracilis 'gracilis' SubClassOf 'adductor muscle of hip' 'gracilis' SubClassOf 'hindlimb stylopod muscle' http://purl.obolibrary.org/obo/UBERON_0000963 head sensillum 'head sensillum' SubClassOf 'sensillum' http://purl.obolibrary.org/obo/UBERON_0000962 nerve of cervical vertebra 'nerve of cervical vertebra' SubClassOf 'spinal nerve' http://purl.obolibrary.org/obo/UBERON_0000961 thoracic ganglion 'thoracic ganglion' SubClassOf 'paravertebral ganglion' http://purl.obolibrary.org/obo/MONDO_0018171 malignant germ cell tumor of ovary 'malignant germ cell tumor of ovary' SubClassOf 'malignant non-epithelial tumor of ovary' 'malignant germ cell tumor of ovary' SubClassOf 'Malignant Germ Cell Tumor' 'malignant germ cell tumor of ovary' SubClassOf 'Ovarian Germ Cell Tumor' 'malignant germ cell tumor of ovary' SubClassOf 'gonadal germ cell tumor' http://purl.obolibrary.org/obo/MONDO_0018170 idiopathic nephrotic syndrome 'idiopathic nephrotic syndrome' SubClassOf 'nephrotic syndrome' 'idiopathic nephrotic syndrome' SubClassOf 'Primary glomerular disease' http://purl.obolibrary.org/obo/MONDO_0018178 intestinal lymphangiectasia (disease) 'intestinal lymphangiectasia (disease)' SubClassOf 'has modifier' some 'rare' 'intestinal lymphangiectasia (disease)' SubClassOf 'intestinal disease' http://purl.obolibrary.org/obo/UBERON_0000910 chyme 'chyme' SubClassOf 'bodily fluid' http://purl.obolibrary.org/obo/MONDO_0018191 tumor of testis and paratestis 'tumor of testis and paratestis' SubClassOf 'has modifier' some 'rare' 'tumor of testis and paratestis' SubClassOf 'neoplasm' http://purl.obolibrary.org/obo/UBERON_0000912 mucus 'mucus' SubClassOf 'bodily fluid' http://purl.obolibrary.org/obo/UBERON_0000923 germ layer 'germ layer' SubClassOf 'germ layer / neural crest' http://purl.obolibrary.org/obo/UBERON_0000929 pharyngeal branch of vagus nerve 'pharyngeal branch of vagus nerve' SubClassOf 'nerve of head region' http://purl.obolibrary.org/obo/UBERON_0010341 1st arch mesenchyme from head mesenchyme '1st arch mesenchyme from head mesenchyme' SubClassOf 'head mesenchyme from mesoderm' '1st arch mesenchyme from head mesenchyme' SubClassOf '1st arch mesenchyme' http://purl.obolibrary.org/obo/UBERON_0010344 3rd arch mesenchyme from head mesenchyme '3rd arch mesenchyme from head mesenchyme' SubClassOf 'head mesenchyme from mesoderm' '3rd arch mesenchyme from head mesenchyme' SubClassOf '3rd arch mesenchyme' http://purl.obolibrary.org/obo/UBERON_0010343 2nd arch mesenchyme from head mesenchyme '2nd arch mesenchyme from head mesenchyme' SubClassOf '2nd arch mesenchyme' '2nd arch mesenchyme from head mesenchyme' SubClassOf 'head mesenchyme from mesoderm' http://purl.obolibrary.org/obo/UBERON_0010345 4th arch mesenchyme from head mesenchyme '4th arch mesenchyme from head mesenchyme' SubClassOf 'head mesenchyme from mesoderm' '4th arch mesenchyme from head mesenchyme' SubClassOf '4th arch mesenchyme' http://purl.obolibrary.org/obo/UBERON_0010347 6th arch mesenchyme from head mesenchyme '6th arch mesenchyme from head mesenchyme' SubClassOf 'head mesenchyme from mesoderm' '6th arch mesenchyme from head mesenchyme' SubClassOf '6th arch mesenchyme' http://purl.obolibrary.org/obo/UBERON_0010330 eyelid mesenchyme 'eyelid mesenchyme' SubClassOf 'eye mesenchyme' http://purl.obolibrary.org/obo/UBERON_0010333 extraembryonic membrane mesenchyme 'extraembryonic membrane mesenchyme' SubClassOf 'extraembryonic tissue' http://purl.obolibrary.org/obo/UBERON_0010332 epithelium of handplate 'epithelium of handplate' SubClassOf 'ecto-epithelium' 'epithelium of handplate' SubClassOf 'unilaminar epithelium' http://purl.obolibrary.org/obo/UBERON_0010334 maxillary process mesenchyme from neural crest 'maxillary process mesenchyme from neural crest' SubClassOf 'mesenchyme from rhombencephalic neural crest' http://purl.obolibrary.org/obo/UBERON_0010337 mandibular process mesenchyme from head mesenchyme 'mandibular process mesenchyme from head mesenchyme' SubClassOf 'head mesenchyme from mesoderm' 'mandibular process mesenchyme from head mesenchyme' SubClassOf 'mandibular process mesenchyme' http://purl.obolibrary.org/obo/UBERON_0010336 mandibular process mesenchyme from neural crest 'mandibular process mesenchyme from neural crest' SubClassOf 'mesenchyme from rhombencephalic neural crest' 'mandibular process mesenchyme from neural crest' SubClassOf 'mandibular process mesenchyme' http://purl.obolibrary.org/obo/UBERON_0010339 1st arch mandibular mesenchyme from head mesenchyme '1st arch mandibular mesenchyme from head mesenchyme' SubClassOf '1st arch mandibular mesenchyme' '1st arch mandibular mesenchyme from head mesenchyme' SubClassOf '1st arch mesenchyme from head mesenchyme' http://purl.obolibrary.org/obo/UBERON_0010338 1st arch maxillary mesenchyme from head mesenchyme '1st arch maxillary mesenchyme from head mesenchyme' SubClassOf '1st arch maxillary mesenchyme' '1st arch maxillary mesenchyme from head mesenchyme' SubClassOf '1st arch mesenchyme from head mesenchyme' http://purl.obolibrary.org/obo/UBERON_0010361 synostosis 'synostosis' SubClassOf 'nonsynovial joint' http://purl.obolibrary.org/obo/UBERON_0010366 conjunctival vasculature 'conjunctival vasculature' SubClassOf 'vasculature of eye' http://purl.obolibrary.org/obo/UBERON_0010367 conjunctival vein 'conjunctival vein' SubClassOf 'craniocervical region vein' 'conjunctival vein' SubClassOf 'head blood vessel' http://purl.obolibrary.org/obo/UBERON_0010354 Reichert's cartilage pre-cartilage condensation 'Reichert's cartilage pre-cartilage condensation' SubClassOf 'mesenchyme from rhombencephalic neural crest' http://purl.obolibrary.org/obo/UBERON_0010300 epithelial scleral papilla layer 'epithelial scleral papilla layer' SubClassOf 'epithelium' http://purl.obolibrary.org/obo/UBERON_0010304 non-keratinized stratified squamous epithelium 'non-keratinized stratified squamous epithelium' DisjointWith 'keratinized stratified squamous epithelium' 'non-keratinized stratified squamous epithelium' SubClassOf 'stratified squamous epithelium' http://purl.obolibrary.org/obo/UBERON_0010303 extraembryonic epithelium 'extraembryonic epithelium' SubClassOf 'epithelium' 'extraembryonic epithelium' SubClassOf 'extraembryonic tissue' http://purl.obolibrary.org/obo/UBERON_0010308 os opticus 'os opticus' SubClassOf 'intramembranous scleral ossicle' http://purl.obolibrary.org/obo/UBERON_0010309 palpebral bone 'palpebral bone' SubClassOf 'facial bone' http://purl.obolibrary.org/obo/UBERON_0000971 ommatidium 'ommatidium' SubClassOf 'sensillum' 'ommatidium' SubClassOf 'eye' http://purl.obolibrary.org/obo/UBERON_0000985 axillary vein 'axillary vein' SubClassOf 'vein' http://purl.obolibrary.org/obo/UBERON_0000984 imaginal disc-derived wing 'imaginal disc-derived wing' SubClassOf 'wing' http://purl.obolibrary.org/obo/UBERON_0022302 short ciliary nerve 'short ciliary nerve' SubClassOf 'iris nerve' 'short ciliary nerve' SubClassOf 'nerve of head region' 'short ciliary nerve' SubClassOf 'parasympathetic nerve' http://purl.obolibrary.org/obo/UBERON_4100014 posterior dorsal fin 'posterior dorsal fin' SubClassOf 'dorsal fin' http://purl.obolibrary.org/obo/UBERON_0010326 optic pedicel 'optic pedicel' SubClassOf 'cartilage element of chondrocranium' http://purl.obolibrary.org/obo/UBERON_0022300 nasociliary nerve 'nasociliary nerve' SubClassOf 'nerve of head region' http://purl.obolibrary.org/obo/UBERON_0022301 long ciliary nerve 'long ciliary nerve' SubClassOf 'iris nerve' 'long ciliary nerve' SubClassOf 'nerve of head region' http://purl.obolibrary.org/obo/UBERON_0010311 scleral sesamoid bone 'scleral sesamoid bone' SubClassOf 'facial bone' 'scleral sesamoid bone' SubClassOf 'sesamoid bone' http://purl.obolibrary.org/obo/UBERON_4100005 second phalanx 'second phalanx' SubClassOf 'phalanx' http://purl.obolibrary.org/obo/UBERON_0010316 germ layer / neural crest 'germ layer / neural crest' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_4100006 parasternal process 'parasternal process' SubClassOf 'interclavicle' http://purl.obolibrary.org/obo/UBERON_4100009 pedal digit 7 phalanx 'pedal digit 7 phalanx' SubClassOf 'phalanx of pes' http://purl.obolibrary.org/obo/UBERON_0010181 straight venules of kidney 'straight venules of kidney' SubClassOf 'kidney vasculature' 'straight venules of kidney' SubClassOf 'vascular plexus' http://purl.obolibrary.org/obo/UBERON_0009195 anal membrane 'anal membrane' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0009194 basisphenoid cartilage condenstion 'basisphenoid cartilage condenstion' SubClassOf 'head mesenchyme from mesoderm' 'basisphenoid cartilage condenstion' SubClassOf 'mesenchyme derived from head neural crest' 'basisphenoid cartilage condenstion' SubClassOf 'facial mesenchyme' http://purl.obolibrary.org/obo/UBERON_0010186 male urethral gland 'male urethral gland' SubClassOf 'urethral gland' http://purl.obolibrary.org/obo/UBERON_0009193 sphenoid cartilage element 'sphenoid cartilage element' SubClassOf 'facial mesenchyme' 'sphenoid cartilage element' SubClassOf 'cartilage element of chondrocranium' http://purl.obolibrary.org/obo/UBERON_0009192 basisphenoid pre-cartilage condensation 'basisphenoid pre-cartilage condensation' SubClassOf 'mesenchyme derived from head neural crest' 'basisphenoid pre-cartilage condensation' SubClassOf 'head mesenchyme from mesoderm' http://purl.obolibrary.org/obo/UBERON_0009191 sphenoid bone pre-cartilage condensation 'sphenoid bone pre-cartilage condensation' SubClassOf 'facial mesenchyme' http://purl.obolibrary.org/obo/UBERON_0010187 female urethral gland 'female urethral gland' SubClassOf 'urethral gland' http://purl.obolibrary.org/obo/UBERON_4100113 dermal intracranial joint 'dermal intracranial joint' SubClassOf 'skeletal joint' http://purl.obolibrary.org/obo/UBERON_4100117 presacral rib 'presacral rib' SubClassOf 'rib' http://purl.obolibrary.org/obo/UBERON_4100119 extratemporal bone 'extratemporal bone' SubClassOf 'dermal bone' http://purl.obolibrary.org/obo/UBERON_4100118 trunk rib 'trunk rib' SubClassOf 'rib' http://purl.obolibrary.org/obo/UBERON_0010171 strand of hair of face 'strand of hair of face' SubClassOf 'hair of head' http://purl.obolibrary.org/obo/UBERON_0010175 nutrient foramen vein 'nutrient foramen vein' SubClassOf 'vein' http://purl.obolibrary.org/obo/UBERON_0010176 nutrient foramen artery 'nutrient foramen artery' SubClassOf 'systemic artery' http://purl.obolibrary.org/obo/UBERON_0009199 facial suture 'facial suture' SubClassOf 'craniofacial suture' http://purl.obolibrary.org/obo/UBERON_0009198 craniofacial suture 'craniofacial suture' SubClassOf 'fibrous joint' http://purl.obolibrary.org/obo/UBERON_0009197 basioccipital pre-cartilage condensation 'basioccipital pre-cartilage condensation' SubClassOf 'head mesenchyme' http://purl.obolibrary.org/obo/UBERON_0010193 renal portal vein 'renal portal vein' SubClassOf 'vein' 'renal portal vein' SubClassOf 'trunk blood vessel' http://purl.obolibrary.org/obo/UBERON_0010192 genital artery 'genital artery' SubClassOf 'abdominal aorta artery' http://purl.obolibrary.org/obo/UBERON_0010195 renal portal system 'renal portal system' SubClassOf 'portal system' http://purl.obolibrary.org/obo/UBERON_0010194 hepatic portal system 'hepatic portal system' SubClassOf 'portal system' http://purl.obolibrary.org/obo/UBERON_0010197 trunk of common carotid artery 'trunk of common carotid artery' SubClassOf 'carotid artery' http://purl.obolibrary.org/obo/UBERON_0010198 carotid duct 'carotid duct' SubClassOf 'trunk blood vessel' 'carotid duct' SubClassOf 'systemic artery' http://purl.obolibrary.org/obo/UBERON_0010141 primitive sex cord of indifferent gonad 'primitive sex cord of indifferent gonad' SubClassOf 'epithelium of gonad' 'primitive sex cord of indifferent gonad' SubClassOf 'sex cord' http://purl.obolibrary.org/obo/UBERON_0010143 seminal vesicle fluid 'seminal vesicle fluid' SubClassOf 'seminal fluid' http://purl.obolibrary.org/obo/UBERON_0010145 paraurethral gland 'paraurethral gland' SubClassOf 'female reproductive gland' http://purl.obolibrary.org/obo/UBERON_0009141 craniocervical region vein 'craniocervical region vein' SubClassOf 'systemic vein' http://purl.obolibrary.org/obo/UBERON_0010130 embryonic autopod plate 'embryonic autopod plate' SubClassOf 'presumptive structure' http://purl.obolibrary.org/obo/UBERON_0010133 neuroendocrine gland 'neuroendocrine gland' SubClassOf 'endocrine gland' http://purl.obolibrary.org/obo/UBERON_0010132 gastroduodenal artery 'gastroduodenal artery' SubClassOf 'systemic artery' http://purl.obolibrary.org/obo/UBERON_0010134 secretory circumventricular organ 'secretory circumventricular organ' SubClassOf 'neuroendocrine gland' http://purl.obolibrary.org/obo/UBERON_0010137 polarized epithelium 'polarized epithelium' SubClassOf 'epithelium' http://purl.obolibrary.org/obo/UBERON_0010136 epithelial sheet 'epithelial sheet' SubClassOf 'epithelium' http://purl.obolibrary.org/obo/UBERON_0010152 skin mucus 'skin mucus' SubClassOf 'mucus' http://purl.obolibrary.org/obo/UBERON_0010155 parietomastoid suture 'parietomastoid suture' SubClassOf 'cranial suture' http://purl.obolibrary.org/obo/UBERON_0010154 inner lining mucosa of the abomasum 'inner lining mucosa of the abomasum' SubClassOf 'stomach glandular region mucosa' http://purl.obolibrary.org/obo/UBERON_0010157 sphenoparietal suture 'sphenoparietal suture' SubClassOf 'cranial suture' http://purl.obolibrary.org/obo/UBERON_0010156 sphenofrontal suture 'sphenofrontal suture' SubClassOf 'cranial suture' http://purl.obolibrary.org/obo/UBERON_0010159 occipitomastoid suture 'occipitomastoid suture' SubClassOf 'cranial suture' http://purl.obolibrary.org/obo/UBERON_0010158 sphenozygomatic suture 'sphenozygomatic suture' SubClassOf 'cranial suture' http://purl.obolibrary.org/obo/MONDO_0008627 ureter cancer 'ureter cancer' SubClassOf 'ureter neoplasm' 'ureter cancer' SubClassOf 'Malignant Urinary System Neoplasm' http://purl.obolibrary.org/obo/MONDO_0021605 benign eyelid neoplasm 'benign eyelid neoplasm' SubClassOf 'benign neoplasm of eye' 'benign eyelid neoplasm' SubClassOf 'eyelid neoplasm' 'benign eyelid neoplasm' SubClassOf 'benign neoplasm of skin' http://purl.obolibrary.org/obo/MONDO_0008638 varicose disease 'varicose disease' SubClassOf 'vein disease' http://purl.obolibrary.org/obo/MONDO_0008648 ventricular tachycardia, familial 'ventricular tachycardia, familial' EquivalentTo 'ventricular tachycardia' and ('has modifier' some 'inherited') 'ventricular tachycardia, familial' SubClassOf 'Genetic cardiac rhythm disease' 'ventricular tachycardia, familial' SubClassOf 'ventricular tachycardia' http://purl.obolibrary.org/obo/MONDO_0021640 grade III glioma 'grade III glioma' SubClassOf 'has modifier' some 'tumor grade 3, general grading system' 'grade III glioma' EquivalentTo 'glioma' and ('has modifier' some 'tumor grade 3, general grading system') 'grade III glioma' SubClassOf 'malignant glioma' http://purl.obolibrary.org/obo/MONDO_0008666 volvulus of midgut 'volvulus of midgut' SubClassOf 'inherited genetic disease' http://purl.obolibrary.org/obo/MONDO_0021631 brain astrocytoma 'brain astrocytoma' SubClassOf 'primary brain neoplasm' 'brain astrocytoma' SubClassOf 'astrocytoma (excluding glioblastoma)' http://purl.obolibrary.org/obo/MONDO_0021632 primary brain neoplasm 'primary brain neoplasm' SubClassOf 'brain neoplasm' http://purl.obolibrary.org/obo/MONDO_0021634 epithelial skin neoplasm 'epithelial skin neoplasm' SubClassOf 'epithelial neoplasm' 'epithelial skin neoplasm' SubClassOf 'skin neoplasm' http://purl.obolibrary.org/obo/MONDO_0021635 neurocristopathy 'neurocristopathy' SubClassOf 'disorder of development or morphogenesis' 'neurocristopathy' SubClassOf 'disease by cellular process disrupted' http://purl.obolibrary.org/obo/MONDO_0021637 low grade glioma 'low grade glioma' SubClassOf 'has modifier' some 'tumor grade 1 or 2, general grading system' 'low grade glioma' SubClassOf 'glioma' 'low grade glioma' EquivalentTo 'glioma' and ('has modifier' some 'tumor grade 1 or 2, general grading system') http://purl.obolibrary.org/obo/MONDO_0021638 low grade astrocytic tumor 'low grade astrocytic tumor' SubClassOf 'astrocytoma' 'low grade astrocytic tumor' SubClassOf 'low grade glioma' 'low grade astrocytic tumor' EquivalentTo 'astrocytoma' and ('has modifier' some 'tumor grade 1 or 2, general grading system') http://purl.obolibrary.org/obo/MONDO_0021639 grade II glioma 'grade II glioma' SubClassOf 'has modifier' some 'tumor grade 2, general grading system' 'grade II glioma' EquivalentTo 'glioma' and ('has modifier' some 'tumor grade 2, general grading system') 'grade II glioma' SubClassOf 'low grade glioma' http://purl.obolibrary.org/obo/UBERON_6000008 labral segment 'labral segment' SubClassOf 'procephalic segment' http://purl.obolibrary.org/obo/UBERON_6000007 procephalic segment 'procephalic segment' SubClassOf 'head segment' http://purl.obolibrary.org/obo/MONDO_0021661 coronary atherosclerosis 'coronary atherosclerosis' SubClassOf 'atherosclerosis' 'coronary atherosclerosis' SubClassOf 'coronary artery disease' http://purl.obolibrary.org/obo/UBERON_6000009 antennal segment 'antennal segment' SubClassOf 'procephalic segment' http://purl.obolibrary.org/obo/MONDO_0021662 bile duct neoplasm 'bile duct neoplasm' SubClassOf 'biliary tract neoplasm' 'bile duct neoplasm' SubClassOf 'bile duct disease' http://purl.obolibrary.org/obo/MONDO_0021663 sarcomatoid squamous cell carcinoma 'sarcomatoid squamous cell carcinoma' SubClassOf 'squamous cell carcinoma' 'sarcomatoid squamous cell carcinoma' SubClassOf 'Sarcomatoid Carcinoma' 'sarcomatoid squamous cell carcinoma' EquivalentTo 'squamous cell carcinoma' and 'Sarcomatoid Carcinoma' http://purl.obolibrary.org/obo/UBERON_6000000 germ layer derivative 'germ layer derivative' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_6000004 insect head 'insect head' SubClassOf 'head' http://purl.obolibrary.org/obo/UBERON_6000006 head segment 'head segment' SubClassOf 'organismal segment' http://purl.obolibrary.org/obo/UBERON_6000005 ocular segment 'ocular segment' SubClassOf 'procephalic segment' http://purl.obolibrary.org/obo/MONDO_0008691 zinc, elevated plasma 'zinc, elevated plasma' SubClassOf 'inherited genetic disease' http://purl.obolibrary.org/obo/MONDO_0021666 ear infection 'ear infection' SubClassOf 'inflammatory disease' 'ear infection' SubClassOf 'infectious disease of the nervous system' 'ear infection' SubClassOf 'disease of ear' http://purl.obolibrary.org/obo/MONDO_0021668 disorder involving pain 'disorder involving pain' SubClassOf 'disease' http://purl.obolibrary.org/obo/MONDO_0021669 post-infectious disorder 'post-infectious disorder' EquivalentTo 'disease' and ('disease arises from feature' some 'infectious disease') 'post-infectious disorder' SubClassOf 'disease' 'post-infectious disorder' SubClassOf 'disease arises from feature' some 'infectious disease' http://purl.obolibrary.org/obo/MONDO_0021651 synpolydactyly 'synpolydactyly' SubClassOf 'syndactyly (disease)' 'synpolydactyly' SubClassOf 'polydactyly (disease)' http://purl.obolibrary.org/obo/MONDO_0021652 diffuse type adenocarcinoma 'diffuse type adenocarcinoma' SubClassOf 'adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0021653 cutaneous focal mucinosis 'cutaneous focal mucinosis' SubClassOf 'cutaneous mucinosis' http://purl.obolibrary.org/obo/MONDO_0021656 nongerminomatous germ cell tumor 'nongerminomatous germ cell tumor' SubClassOf 'germ cell tumor' 'germinomatous germ cell tumor' DisjointWith 'nongerminomatous germ cell tumor' http://purl.obolibrary.org/obo/MONDO_0021657 ovarian sex cord-stromal tumor 'ovarian sex cord-stromal tumor' SubClassOf 'sex cord-stromal tumor' 'ovarian sex cord-stromal tumor' SubClassOf 'ovarian neoplasm' http://purl.obolibrary.org/obo/MONDO_0021658 vascular ectasia 'vascular ectasia' SubClassOf 'vascular disease' http://purl.obolibrary.org/obo/MONDO_0018010 juvenile idiopathic inflammatory myopathy 'juvenile idiopathic inflammatory myopathy' SubClassOf 'idiopathic inflammatory myopathy' http://purl.obolibrary.org/obo/MONDO_0021659 combined carcinoid and adenocarcinoma 'combined carcinoid and adenocarcinoma' SubClassOf 'carcinoma' http://purl.obolibrary.org/obo/MONDO_0021681 sexually transmitted disease 'sexually transmitted disease' SubClassOf 'infectious disease' 'sexually transmitted disease' SubClassOf 'reproductive system disease' http://purl.obolibrary.org/obo/MONDO_0021682 viral sexually transmitted disease 'viral sexually transmitted disease' SubClassOf 'sexually transmitted disease' 'viral sexually transmitted disease' SubClassOf 'viral disease' http://purl.obolibrary.org/obo/MONDO_0021670 post-infectious syndrome 'post-infectious syndrome' SubClassOf 'post-infectious disorder' 'post-infectious syndrome' SubClassOf 'syndromic disease' 'post-infectious syndrome' EquivalentTo 'syndromic disease' and ('disease arises from feature' some 'infectious disease') http://purl.obolibrary.org/obo/MONDO_0021673 post-bacterial disorder 'post-bacterial disorder' SubClassOf 'disease arises from feature' some 'bacterial disease' 'post-bacterial disorder' SubClassOf 'post-infectious disorder' 'post-bacterial disorder' EquivalentTo 'disease' and ('disease arises from feature' some 'bacterial disease') http://purl.obolibrary.org/obo/MONDO_0021674 post-viral disorder 'post-viral disorder' SubClassOf 'post-infectious disorder' 'post-viral disorder' EquivalentTo 'disease' and ('disease arises from feature' some 'viral disease') 'post-viral disorder' SubClassOf 'disease arises from feature' some 'viral disease' http://purl.obolibrary.org/obo/MONDO_0006058 Wilms tumor 'Wilms tumor' SubClassOf 'Malignant Mixed Neoplasm' 'Wilms tumor' SubClassOf 'embryonal neoplasm' http://purl.obolibrary.org/obo/MONDO_0021677 post-infectious neuralgia 'post-infectious neuralgia' SubClassOf 'post-viral disorder' 'post-infectious neuralgia' SubClassOf 'neuralgia' 'post-infectious neuralgia' EquivalentTo 'neuralgia' and ('disease arises from feature' some 'viral disease') http://purl.obolibrary.org/obo/MONDO_0018035 syndrome with combined immunodeficiency 'syndrome with combined immunodeficiency' SubClassOf 'Primary immunodeficiency due to a defect in adaptive immunity' http://purl.obolibrary.org/obo/MONDO_0021678 gram-negative bacterial infections 'gram-negative bacterial infections' SubClassOf 'bacterial disease' http://purl.obolibrary.org/obo/MONDO_0021679 gram-positive bacterial infections 'gram-positive bacterial infections' SubClassOf 'bacterial disease' http://purl.obolibrary.org/obo/MONDO_0021697 chlamydia infectious disease 'chlamydia infectious disease' SubClassOf 'Chlamydiaceae Infections' 'chlamydia infectious disease' SubClassOf 'bacterial sexually transmitted disease' http://purl.obolibrary.org/obo/MONDO_0021698 alcohol-related disorders 'alcohol-related disorders' SubClassOf 'substance-related disorder' http://purl.obolibrary.org/obo/MONDO_0021699 alcohol-induced disorders 'alcohol-induced disorders' SubClassOf 'alcohol-related disorders' http://purl.obolibrary.org/obo/MONDO_0031012 autoimmune uveitis 'autoimmune uveitis' SubClassOf 'autoimmune disease of the nervous system' 'autoimmune uveitis' SubClassOf 'autoimmune disease of ear, nose and throat' 'autoimmune uveitis' SubClassOf 'uveitis' http://purl.obolibrary.org/obo/MONDO_0043003 familial acanthosis nigricans 'familial acanthosis nigricans' SubClassOf 'acanthosis nigricans' 'familial acanthosis nigricans' EquivalentTo 'acanthosis nigricans' and ('has modifier' some 'inherited') 'familial acanthosis nigricans' SubClassOf 'genetic skin disease' http://purl.obolibrary.org/obo/MONDO_0043007 genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' SubClassOf 'congenital nervous system disorder' 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome' 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' SubClassOf 'Rare genetic neurological disorder' 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' EquivalentTo 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' and ('has modifier' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0043009 genetic lethal multiple congenital anomalies/dysmorphic syndrome 'genetic lethal multiple congenital anomalies/dysmorphic syndrome' SubClassOf 'Genetic multiple congenital anomalies/dysmorphic syndrome' 'genetic lethal multiple congenital anomalies/dysmorphic syndrome' EquivalentTo 'lethal multiple congenital anomalies/dysmorphic syndrome' and ('has modifier' some 'inherited') 'genetic lethal multiple congenital anomalies/dysmorphic syndrome' SubClassOf 'lethal multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0018079 thymic epithelial neoplasm 'thymic epithelial neoplasm' SubClassOf 'epithelial neoplasm' 'thymic epithelial neoplasm' SubClassOf 'thymus neoplasm' http://purl.obolibrary.org/obo/MONDO_0018093 arbovirus fever 'arbovirus fever' SubClassOf 'has modifier' some 'rare' 'arbovirus fever' SubClassOf 'viral disease' http://purl.obolibrary.org/obo/UBERON_0010227 future cardiac atrium 'future cardiac atrium' SubClassOf 'presumptive structure' http://purl.obolibrary.org/obo/MONDO_0018087 viral hemorrhagic fever 'viral hemorrhagic fever' SubClassOf 'has modifier' some 'rare' 'viral hemorrhagic fever' SubClassOf 'viral disease' http://purl.obolibrary.org/obo/UBERON_0010241 molar gland 'molar gland' SubClassOf 'buccal salivary gland' http://purl.obolibrary.org/obo/UBERON_0010240 zygomatic gland 'zygomatic gland' SubClassOf 'buccal salivary gland' http://purl.obolibrary.org/obo/UBERON_0010243 merocrine gland 'apocrine gland' DisjointWith 'merocrine gland' 'merocrine gland' SubClassOf 'exocrine gland' http://purl.obolibrary.org/obo/UBERON_0010242 anterior buccal gland 'anterior buccal gland' SubClassOf 'buccal salivary gland' http://purl.obolibrary.org/obo/UBERON_0010249 posterior meningeal artery 'posterior meningeal artery' DisjointWith 'anterior meningeal artery' 'posterior meningeal artery' SubClassOf 'meningeal artery' http://purl.obolibrary.org/obo/UBERON_0010234 palatopharyngeus muscle 'palatopharyngeus muscle' SubClassOf 'palatal muscle' 'palatopharyngeus muscle' SubClassOf 'branchial muscle' http://purl.obolibrary.org/obo/UBERON_0010235 uvular muscle 'uvular muscle' SubClassOf 'palatal muscle' http://purl.obolibrary.org/obo/UBERON_0009203 internasal suture 'internasal suture' SubClassOf 'nasal suture' http://purl.obolibrary.org/obo/UBERON_0009201 nephric duct 'nephric duct' SubClassOf 'epithelial tube' 'nephric duct' SubClassOf 'kidney epithelium' http://purl.obolibrary.org/obo/UBERON_0010205 mesencephalic vein 'mesencephalic vein' SubClassOf 'vein' http://purl.obolibrary.org/obo/UBERON_0009200 limb epidermis 'limb epidermis' SubClassOf 'epidermis' http://purl.obolibrary.org/obo/UBERON_0010204 tail vasculature 'tail vasculature' SubClassOf 'vasculature' http://purl.obolibrary.org/obo/UBERON_0010207 nictitating membrane 'nictitating membrane' SubClassOf 'eyelid' http://purl.obolibrary.org/obo/UBERON_0009206 lateral nasal process surface ectoderm 'lateral nasal process surface ectoderm' SubClassOf 'ectoderm' 'lateral nasal process surface ectoderm' SubClassOf 'frontonasal process epithelium' http://purl.obolibrary.org/obo/UBERON_0009205 lateral nasal process mesenchyme 'medial nasal process mesenchyme' DisjointWith 'lateral nasal process mesenchyme' 'lateral nasal process mesenchyme' SubClassOf 'mesenchyme of fronto-nasal process' http://purl.obolibrary.org/obo/UBERON_0009204 medial nasal process mesenchyme 'medial nasal process mesenchyme' DisjointWith 'lateral nasal process mesenchyme' 'medial nasal process mesenchyme' SubClassOf 'mesenchyme of fronto-nasal process' http://purl.obolibrary.org/obo/UBERON_0009213 pharyngeal membrane of 1st arch 'pharyngeal membrane of 1st arch' SubClassOf 'pharyngeal membrane' http://purl.obolibrary.org/obo/UBERON_0009210 pharyngeal membrane 'pharyngeal membrane' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0009217 pharyngeal membrane of 4th arch 'pharyngeal membrane of 4th arch' SubClassOf 'pharyngeal membrane' http://purl.obolibrary.org/obo/UBERON_0009216 pharyngeal membrane of 3rd arch 'pharyngeal membrane of 3rd arch' SubClassOf 'pharyngeal membrane' http://purl.obolibrary.org/obo/UBERON_0009215 pharyngeal membrane of 2nd arch 'pharyngeal membrane of 2nd arch' SubClassOf 'pharyngeal membrane' http://purl.obolibrary.org/obo/MONDO_0002342 chondromalacia 'chondromalacia' SubClassOf 'articular cartilage disease' http://purl.obolibrary.org/obo/MONDO_0002341 granulomatous angiitis 'granulomatous angiitis' SubClassOf 'Arteritis' http://purl.obolibrary.org/obo/MONDO_0002358 laryngeal carcinoma 'laryngeal carcinoma' SubClassOf 'carcinoma' 'laryngeal carcinoma' SubClassOf 'larynx cancer' http://purl.obolibrary.org/obo/MONDO_0002353 glottis neoplasm 'glottis neoplasm' SubClassOf 'laryngeal neoplasm' http://purl.obolibrary.org/obo/MONDO_0002350 familial nephrotic syndrome 'familial nephrotic syndrome' SubClassOf 'inherited genetic disease' 'familial nephrotic syndrome' SubClassOf 'nephrotic syndrome' 'familial nephrotic syndrome' EquivalentTo 'nephrotic syndrome' and ('has modifier' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0002352 larynx cancer 'larynx cancer' SubClassOf 'laryngeal neoplasm' 'larynx cancer' SubClassOf 'respiratory system cancer' http://purl.obolibrary.org/obo/MONDO_0016990 acquired prothrombin deficiency 'acquired prothrombin deficiency' SubClassOf 'prothrombin deficiency' 'acquired prothrombin deficiency' SubClassOf 'hemorrhagic disorder due to an acquired coagulation factor defect' 'acquired prothrombin deficiency' EquivalentTo 'prothrombin deficiency' and ('has modifier' some 'acquired') 'acquired prothrombin deficiency' SubClassOf 'has modifier' some 'acquired' http://purl.obolibrary.org/obo/MONDO_0002368 papillary serous cystadenocarcinoma 'papillary serous cystadenocarcinoma' EquivalentTo 'serous cystadenocarcinoma' and 'papillary cystadenocarcinoma' 'papillary serous cystadenocarcinoma' SubClassOf 'serous cystadenocarcinoma' 'papillary serous cystadenocarcinoma' SubClassOf 'papillary cystadenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0002369 cystadenoma 'cystadenoma' SubClassOf 'cystic neoplasm' 'cystadenoma' SubClassOf 'adenoma' 'cystadenoma' SubClassOf 'glandular cell neoplasm' http://purl.obolibrary.org/obo/MONDO_0002366 autonomic nervous system neoplasm 'autonomic nervous system neoplasm' SubClassOf 'autonomic nervous system disease' 'autonomic nervous system neoplasm' SubClassOf 'peripheral nervous system neoplasm' http://purl.obolibrary.org/obo/MONDO_0002367 kidney cancer 'kidney cancer' SubClassOf 'Malignant Urinary System Neoplasm' 'kidney cancer' SubClassOf 'kidney neoplasm' http://purl.obolibrary.org/obo/MONDO_0002360 chondroma 'chondroma' SubClassOf 'musculoskeletal system benign neoplasm' 'chondroma' SubClassOf 'cartilage disease' 'chondroma' SubClassOf 'benign chondrogenic neoplasm' 'chondroma' SubClassOf 'connective tissue neoplasm' http://purl.obolibrary.org/obo/MONDO_0002363 papilloma 'papilloma' SubClassOf 'benign epithelial neoplasm' 'papilloma' SubClassOf 'papillary epithelial neoplasm' http://purl.obolibrary.org/obo/MONDO_0002372 ovarian monodermal and highly specialized teratoma 'ovarian monodermal and highly specialized teratoma' SubClassOf 'ovarian monodermal teratoma' http://purl.obolibrary.org/obo/MONDO_0002373 benign mesothelioma 'benign mesothelioma' SubClassOf 'mesothelioma' 'benign mesothelioma' SubClassOf 'benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0002380 myoepithelial tumor 'myoepithelial tumor' SubClassOf 'epithelial neoplasm' http://purl.obolibrary.org/obo/MONDO_0002397 liver sarcoma 'liver sarcoma' SubClassOf 'liver cancer' 'liver sarcoma' SubClassOf 'soft tissue sarcoma' http://purl.obolibrary.org/obo/MONDO_0002398 mucinous adenofibroma 'mucinous adenofibroma' SubClassOf 'Adenofibroma' 'mucinous adenofibroma' SubClassOf 'mucinous neoplasm' 'mucinous adenofibroma' EquivalentTo 'mucinous neoplasm' and 'Adenofibroma' 'mucinous adenofibroma' SubClassOf 'benign epithelial neoplasm' http://purl.obolibrary.org/obo/MONDO_0002395 renal adenoma 'renal adenoma' SubClassOf 'kidney benign neoplasm' 'renal adenoma' SubClassOf 'benign epithelial neoplasm' 'renal adenoma' SubClassOf 'adenoma' http://purl.obolibrary.org/obo/UBERON_1500008 pelvic fin distal radial bone 'pelvic fin distal radial bone' SubClassOf 'pelvic fin radial bone' http://purl.obolibrary.org/obo/UBERON_1500006 paired fin radial bone 'paired fin radial bone' SubClassOf 'bone of free limb or fin' 'paired fin radial bone' SubClassOf 'radial bone' http://purl.obolibrary.org/obo/UBERON_1500009 pelvic fin basipterygial radial 'pelvic fin basipterygial radial' SubClassOf 'pelvic fin radial bone' http://purl.obolibrary.org/obo/UBERON_1500010 pelvic fin middle radial bone 'pelvic fin middle radial bone' SubClassOf 'pelvic fin radial bone' http://purl.obolibrary.org/obo/UBERON_0008609 transversus menti muscle 'transversus menti muscle' SubClassOf 'facial muscle' http://purl.obolibrary.org/obo/UBERON_0006002 vitelline artery 'vitelline artery' SubClassOf 'trunk blood vessel' 'vitelline artery' SubClassOf 'vitelline blood vessel' 'vitelline artery' SubClassOf 'systemic artery' http://purl.obolibrary.org/obo/UBERON_0006005 hair follicle isthmus 'hair follicle isthmus' SubClassOf 'skin epithelium' http://purl.obolibrary.org/obo/UBERON_0006004 hair follicle matrix region 'hair follicle matrix region' SubClassOf 'skin epithelium' http://purl.obolibrary.org/obo/UBERON_0006011 hyaloid vein 'hyaloid vein' SubClassOf 'craniocervical region vein' 'hyaloid vein' SubClassOf 'hyaloid vessel' http://purl.obolibrary.org/obo/UBERON_0008618 subcostal muscle 'subcostal muscle' SubClassOf 'chest muscle' http://purl.obolibrary.org/obo/UBERON_0008617 innermost intercostal muscle 'innermost intercostal muscle' SubClassOf 'intercostal muscle' http://purl.obolibrary.org/obo/UBERON_0008612 muscle of pelvic diaphragm 'muscle of pelvic diaphragm' SubClassOf 'muscle of pelvis' http://purl.obolibrary.org/obo/UBERON_0008611 scalene muscle 'scalene muscle' SubClassOf 'muscle of vertebral column' 'scalene muscle' SubClassOf 'muscle of neck' 'scalene muscle' SubClassOf 'axial muscle' http://purl.obolibrary.org/obo/UBERON_0008622 scalenus anterior 'scalenus posterior' DisjointWith 'scalenus anterior' 'scalenus anterior' SubClassOf 'scalene muscle' http://purl.obolibrary.org/obo/MONDO_0002402 malignant giant cell tumor 'malignant giant cell tumor' SubClassOf 'cancer' 'malignant giant cell tumor' SubClassOf 'giant cell tumor' http://purl.obolibrary.org/obo/MONDO_0002400 synovitis (disease) 'synovitis (disease)' SubClassOf 'serositis' 'synovitis (disease)' SubClassOf 'disease has feature' some 'arthritis' 'synovitis (disease)' SubClassOf 'synovium disease' 'synovitis (disease)' SubClassOf 'arthritis' http://purl.obolibrary.org/obo/MONDO_0002405 hepatic vascular disease 'hepatic vascular disease' SubClassOf 'liver disease' 'hepatic vascular disease' SubClassOf 'vascular disease' http://purl.obolibrary.org/obo/MONDO_0002406 dermatitis 'dermatitis' SubClassOf 'skin disease' 'dermatitis' SubClassOf 'inflammatory disease' http://purl.obolibrary.org/obo/MONDO_0002408 hereditary hyperbilirubinemia 'hereditary hyperbilirubinemia' SubClassOf 'Disorder of bilirubin metabolism and excretion' http://purl.obolibrary.org/obo/MONDO_0002415 bone carcinoma 'bone carcinoma' SubClassOf 'bone cancer' 'bone carcinoma' SubClassOf 'carcinoma' http://purl.obolibrary.org/obo/MONDO_0002420 tic disorder 'tic disorder' SubClassOf 'specific developmental disorder' http://purl.obolibrary.org/obo/MONDO_0002427 cerebellar disease 'cerebellar disease' SubClassOf 'brain disease' http://purl.obolibrary.org/obo/MONDO_0002428 protozoa infectious disease 'protozoa infectious disease' SubClassOf 'parasitic infection' http://purl.obolibrary.org/obo/MONDO_0002429 idiopathic interstitial pneumonia 'idiopathic interstitial pneumonia' SubClassOf 'primary interstitial lung disease specific to adulthood' 'idiopathic interstitial pneumonia' SubClassOf 'pneumonia' http://purl.obolibrary.org/obo/MONDO_0002436 nose disease 'nose disease' SubClassOf 'sensory system disease' 'nose disease' SubClassOf 'face disease' http://purl.obolibrary.org/obo/MONDO_0002433 malignant cranial nerve neoplasm 'malignant cranial nerve neoplasm' SubClassOf 'peripheral nervous system cancer' 'malignant cranial nerve neoplasm' SubClassOf 'head and neck malignant neoplasia' 'malignant cranial nerve neoplasm' SubClassOf 'cranial nerve neoplasm' http://purl.obolibrary.org/obo/MONDO_0002438 acquired polycythemia 'acquired polycythemia' SubClassOf 'has modifier' some 'acquired' 'acquired polycythemia' SubClassOf 'polycythemia' 'acquired polycythemia' EquivalentTo 'polycythemia' and ('has modifier' some 'acquired') http://purl.obolibrary.org/obo/UBERON_0006049 digit 2 'digit 2' SubClassOf 'digit 2, 3 or 4' http://purl.obolibrary.org/obo/UBERON_0006048 digit 1 'digit 1' SubClassOf 'digit 1 or 5' http://purl.obolibrary.org/obo/MONDO_0002441 Jervell-Lange Nielsen syndrome 'Jervell-Lange Nielsen syndrome' SubClassOf 'long QT syndrome' http://purl.obolibrary.org/obo/MONDO_0002442 long QT syndrome 'long QT syndrome' SubClassOf 'congenital heart disease' 'long QT syndrome' SubClassOf 'syndromic disease' 'long QT syndrome' SubClassOf 'disease has feature' some 'torsades de pointes' http://purl.obolibrary.org/obo/UBERON_0006060 conotruncus 'conotruncus' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0006052 digit 5 'digit 5' SubClassOf 'digit 1 or 5' http://purl.obolibrary.org/obo/UBERON_0006050 digit 3 'digit 3' SubClassOf 'digit 2, 3 or 4' http://purl.obolibrary.org/obo/UBERON_0006051 digit 4 'digit 4' SubClassOf 'digit 2, 3 or 4' http://purl.obolibrary.org/obo/MONDO_0002459 type IV hypersensitivity disease 'type IV hypersensitivity disease' SubClassOf 'type II hypersensitivity reaction disease' http://purl.obolibrary.org/obo/MONDO_0002453 retrocochlear disease 'retrocochlear disease' SubClassOf 'auditory system disease' http://purl.obolibrary.org/obo/MONDO_0002454 thyroid adenoma (disease) 'thyroid adenoma (disease)' SubClassOf 'adenoma' 'thyroid adenoma (disease)' SubClassOf 'thyroid tumor' http://purl.obolibrary.org/obo/UBERON_0006067 musculature of hindlimb zeugopod 'musculature of hindlimb zeugopod' SubClassOf 'musculature of leg' http://purl.obolibrary.org/obo/UBERON_0006068 bone of tail 'bone of tail' SubClassOf 'bone' http://purl.obolibrary.org/obo/MONDO_0002225 ovarian sarcoma 'ovarian sarcoma' SubClassOf 'ovarian cancer' 'ovarian sarcoma' SubClassOf 'soft tissue sarcoma' http://purl.obolibrary.org/obo/MONDO_0004884 eye degenerative disease 'eye degenerative disease' SubClassOf 'neurodegenerative disease' 'eye degenerative disease' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/MONDO_0004880 bowel dysfunction 'bowel dysfunction' SubClassOf 'intestinal disease' http://purl.obolibrary.org/obo/MONDO_0002220 tooth hard tissue disease 'tooth hard tissue disease' SubClassOf 'tooth disease' http://purl.obolibrary.org/obo/MONDO_0002229 ovarian epithelial tumor 'ovarian epithelial tumor' SubClassOf 'ovarian neoplasm' 'ovarian epithelial tumor' SubClassOf 'epithelial neoplasm' http://purl.obolibrary.org/obo/MONDO_0002236 ocular cancer 'ocular cancer' SubClassOf 'head and neck malignant neoplasia' 'ocular cancer' SubClassOf 'sensory system cancer' 'ocular cancer' SubClassOf 'eye neoplasm' http://purl.obolibrary.org/obo/MONDO_0002232 nasal cavity disease 'nasal cavity disease' SubClassOf 'nose disease' 'nasal cavity disease' SubClassOf 'upper respiratory tract disease' http://purl.obolibrary.org/obo/MONDO_0002233 enamel caries 'enamel caries' SubClassOf 'connective tissue disease' 'enamel caries' SubClassOf 'dental caries' http://purl.obolibrary.org/obo/MONDO_0002234 vaginitis (disease) 'vaginitis (disease)' SubClassOf 'vaginal disease' 'vaginitis (disease)' SubClassOf 'inflammatory disease' http://purl.obolibrary.org/obo/MONDO_0004891 hyperopia 'hyperopia' SubClassOf 'refractive error' http://purl.obolibrary.org/obo/MONDO_0004892 refractive error 'refractive error' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/MONDO_0002247 factor X deficiency 'factor X deficiency' SubClassOf 'disease of catalytic activity' 'factor X deficiency' SubClassOf 'coagulation protein disease' 'factor X deficiency' SubClassOf 'hemorrhagic disease' http://purl.obolibrary.org/obo/MONDO_0002249 thrombocytosis disease 'thrombocytosis disease' SubClassOf 'blood platelet disease' http://purl.obolibrary.org/obo/MONDO_0002243 hemorrhagic disease 'hemorrhagic disease' SubClassOf 'hematologic disease' http://purl.obolibrary.org/obo/MONDO_0002244 factor VII deficiency 'factor VII deficiency' SubClassOf 'coagulation protein disease' 'factor VII deficiency' SubClassOf 'hemorrhagic disease' http://purl.obolibrary.org/obo/MONDO_0002245 blood platelet disease 'blood platelet disease' SubClassOf 'disease by cell type' 'blood platelet disease' SubClassOf 'hematologic disease' http://purl.obolibrary.org/obo/MONDO_0002241 factor XIII deficiency 'factor XIII deficiency' SubClassOf 'coagulation protein disease' 'factor XIII deficiency' SubClassOf 'disease of catalytic activity' http://purl.obolibrary.org/obo/MONDO_0002242 coagulation protein disease 'coagulation protein disease' SubClassOf 'blood coagulation disease' http://purl.obolibrary.org/obo/MONDO_0002258 pharyngitis 'pharyngitis' SubClassOf 'inflammatory disease' 'pharyngitis' SubClassOf 'head and neck disorder' 'pharyngitis' SubClassOf 'upper respiratory tract disease' http://purl.obolibrary.org/obo/MONDO_0002259 gonadal disease 'gonadal disease' SubClassOf 'reproductive system disease' 'gonadal disease' SubClassOf 'endocrine system disease' http://purl.obolibrary.org/obo/MONDO_0002254 syndromic disease 'syndromic disease' SubClassOf 'disease' 'syndromic disease' EquivalentTo 'disease' and ('has modifier' some 'has a syndromic presentation') 'syndromic disease' DisjointWith 'Polydactyly' 'syndromic disease' DisjointWith 'Syndactyly' 'syndromic disease' SubClassOf 'has modifier' some 'has a syndromic presentation' http://purl.obolibrary.org/obo/MONDO_0002256 cervix disease 'cervix disease' SubClassOf 'uterine disease' http://purl.obolibrary.org/obo/MONDO_0002257 ankylosis (disease) 'ankylosis (disease)' SubClassOf 'joint disease' http://purl.obolibrary.org/obo/MONDO_0041825 bacterial meningitis caused by gram-negative bacteria 'bacterial meningitis caused by gram-negative bacteria' EquivalentTo 'gram-negative bacterial infections' and 'bacterial meningitis' 'bacterial meningitis caused by gram-negative bacteria' SubClassOf 'gram-negative bacterial infections' 'bacterial meningitis caused by gram-negative bacteria' SubClassOf 'bacterial meningitis' http://purl.obolibrary.org/obo/MONDO_0002260 hidradenitis 'hidradenitis' SubClassOf 'apocrine sweat gland disease' 'hidradenitis' SubClassOf 'inflammatory disease' http://purl.obolibrary.org/obo/MONDO_0002277 arteriosclerosis disorder 'arteriosclerosis disorder' SubClassOf 'arterial disorder' http://purl.obolibrary.org/obo/MONDO_0002279 iron metabolism disease 'iron metabolism disease' SubClassOf 'mineral metabolism disease' http://purl.obolibrary.org/obo/MONDO_0002273 plasma protein metabolism disease 'plasma protein metabolism disease' SubClassOf 'Inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0002289 iris disease 'iris disease' SubClassOf 'uveal disease' http://purl.obolibrary.org/obo/MONDO_0002283 neuroaxonal dystrophy 'neuroaxonal dystrophy' SubClassOf 'neurodegenerative disease' http://purl.obolibrary.org/obo/MONDO_0002286 renal artery disease 'renal artery disease' SubClassOf 'kidney disease' 'renal artery disease' SubClassOf 'aortic disease' http://purl.obolibrary.org/obo/MONDO_0041850 pneumonia caused by gram negative bacteria 'pneumonia caused by gram negative bacteria' SubClassOf 'bacterial pneumonia' 'pneumonia caused by gram negative bacteria' SubClassOf 'gram-negative bacterial infections' 'pneumonia caused by gram negative bacteria' EquivalentTo 'gram-negative bacterial infections' and 'bacterial pneumonia' http://purl.obolibrary.org/obo/MONDO_0002280 anemia (disease) 'anemia (disease)' SubClassOf 'hematologic disease' http://purl.obolibrary.org/obo/MONDO_0002281 macrocytic anemia (disease) 'macrocytic anemia (disease)' SubClassOf 'anemia (disease)' http://purl.obolibrary.org/obo/MONDO_0002282 West Nile fever 'West Nile fever' SubClassOf 'Flaviviridae infectious disease' http://purl.obolibrary.org/obo/MONDO_0014260 immunodeficiency, common variable, 10 'immunodeficiency, common variable, 10' SubClassOf 'Common variable immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0002297 epidermal appendage tumor 'epidermal appendage tumor' SubClassOf 'skin neoplasm' 'epidermal appendage tumor' SubClassOf 'skin appendage disease' http://purl.obolibrary.org/obo/MONDO_0014284 short-rib thoracic dysplasia 10 with or without polydactyly 'short-rib thoracic dysplasia 10 with or without polydactyly' SubClassOf 'Jeune syndrome' http://purl.obolibrary.org/obo/UBERON_0008537 quadratus femoris 'quadratus femoris' SubClassOf 'gluteal muscle' http://purl.obolibrary.org/obo/UBERON_0008549 prevertebral muscle 'prevertebral muscle' SubClassOf 'muscle of vertebral column' http://purl.obolibrary.org/obo/UBERON_0008546 iliocostalis cervicis muscle 'iliocostalis cervicis muscle' SubClassOf 'iliocostalis muscle' http://purl.obolibrary.org/obo/UBERON_0008544 splenius cervicis 'splenius cervicis' SubClassOf 'splenius' http://purl.obolibrary.org/obo/MONDO_0004900 peripheral vertigo 'peripheral vertigo' SubClassOf 'vestibular disease' http://purl.obolibrary.org/obo/UBERON_0008521 gluteus minimus 'gluteus minimus' SubClassOf 'gluteal muscle' http://purl.obolibrary.org/obo/UBERON_0008529 piriformis muscle 'piriformis muscle' SubClassOf 'gluteal muscle' 'piriformis muscle' SubClassOf 'axial muscle' http://purl.obolibrary.org/obo/MONDO_0004917 internal hordeolum 'internal hordeolum' SubClassOf 'connective tissue disease' 'internal hordeolum' SubClassOf 'sebaceous gland disease' 'internal hordeolum' SubClassOf 'hordeolum' http://purl.obolibrary.org/obo/UBERON_0008523 infrahyoid muscle 'infrahyoid muscle' SubClassOf 'hyoid muscle' http://purl.obolibrary.org/obo/UBERON_0008522 nasal muscle 'nasal muscle' SubClassOf 'facial muscle' http://purl.obolibrary.org/obo/MONDO_0004928 lymph node disease 'lymph node disease' SubClassOf 'lymphatic system disease' http://purl.obolibrary.org/obo/MONDO_0004938 substance dependence 'substance dependence' SubClassOf 'substance-related disorder' http://purl.obolibrary.org/obo/MONDO_0004944 neurosyphilis 'neurosyphilis' SubClassOf 'tertiary syphilis' http://purl.obolibrary.org/obo/MONDO_0004951 susceptibility to HIV infection 'susceptibility to HIV infection' EquivalentTo 'Genetic susceptibility to infections due to particular pathogens' and ('predisposes towards' some 'HIV infection') 'susceptibility to HIV infection' SubClassOf 'disease has feature' some 'AIDS' 'susceptibility to HIV infection' SubClassOf 'predisposes towards' some 'HIV infection' 'susceptibility to HIV infection' SubClassOf 'Genetic susceptibility to infections due to particular pathogens' http://purl.obolibrary.org/obo/MONDO_0002304 protein S deficiency 'protein S deficiency' SubClassOf 'blood protein disease' 'protein S deficiency' SubClassOf 'thrombophilia' http://purl.obolibrary.org/obo/MONDO_0002300 dermis tumor 'dermis tumor' SubClassOf 'dermis disease' 'dermis tumor' SubClassOf 'skin neoplasm' http://purl.obolibrary.org/obo/UBERON_0008576 thyro-arytenoid 'thyro-arytenoid' SubClassOf 'laryngeal intrinsic muscle' http://purl.obolibrary.org/obo/UBERON_0008575 oblique arytenoid 'oblique arytenoid' SubClassOf 'arytenoid muscle' http://purl.obolibrary.org/obo/UBERON_0008574 transverse arytenoid 'transverse arytenoid' SubClassOf 'arytenoid muscle' http://purl.obolibrary.org/obo/UBERON_0008573 lateral crico-arytenoid 'lateral crico-arytenoid' SubClassOf 'crico-arytenoid muscle' http://purl.obolibrary.org/obo/UBERON_0008572 posterior crico-arytenoid 'posterior crico-arytenoid' SubClassOf 'crico-arytenoid muscle' http://purl.obolibrary.org/obo/UBERON_0008571 suprahyoid muscle 'suprahyoid muscle' SubClassOf 'hyoid muscle' http://purl.obolibrary.org/obo/UBERON_0008577 vocalis muscle 'vocalis muscle' SubClassOf 'laryngeal intrinsic muscle' http://purl.obolibrary.org/obo/MONDO_0002314 chronic conjunctivitis 'chronic conjunctivitis' SubClassOf 'conjunctivitis' http://purl.obolibrary.org/obo/MONDO_0002316 motor peripheral neuropathy 'motor peripheral neuropathy' SubClassOf 'peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0002311 retinal vascular disease 'retinal vascular disease' SubClassOf 'disease of central nervous system or retinal vasculature' 'retinal vascular disease' SubClassOf 'ocular vascular disease' 'retinal vascular disease' SubClassOf 'retinopathy' http://purl.obolibrary.org/obo/MONDO_0002312 opportunistic mycosis 'opportunistic mycosis' EquivalentTo 'fungal infectious disease' and ('has modifier' some 'opportunistic infectious') 'opportunistic mycosis' SubClassOf 'has modifier' some 'opportunistic infectious' 'primary systemic mycosis' DisjointWith 'opportunistic mycosis' 'opportunistic mycosis' SubClassOf 'fungal infectious disease' http://purl.obolibrary.org/obo/UBERON_0008586 tensor veli palatini 'tensor veli palatini' SubClassOf 'palatal muscle' http://purl.obolibrary.org/obo/UBERON_0008585 levator veli palatini 'levator veli palatini' SubClassOf 'palatal muscle' http://purl.obolibrary.org/obo/UBERON_0008584 vertical muscle of tongue 'vertical muscle of tongue' SubClassOf 'intrinsic muscle of tongue' http://purl.obolibrary.org/obo/UBERON_0008583 transverse muscle of tongue 'transverse muscle of tongue' SubClassOf 'intrinsic muscle of tongue' http://purl.obolibrary.org/obo/UBERON_0008582 superior longitudinal muscle of tongue 'superior longitudinal muscle of tongue' SubClassOf 'intrinsic muscle of tongue' http://purl.obolibrary.org/obo/MONDO_0002319 phosphorus metabolism disease 'phosphorus metabolism disease' SubClassOf 'mineral metabolism disease' http://purl.obolibrary.org/obo/UBERON_0008589 depressor septi nasi 'depressor septi nasi' SubClassOf 'nasal muscle' http://purl.obolibrary.org/obo/UBERON_0008588 procerus 'procerus' SubClassOf 'nasal muscle' http://purl.obolibrary.org/obo/MONDO_0002326 alcohol-induced mental disorder 'alcohol-induced mental disorder' SubClassOf 'mental or behavioural disorder' http://purl.obolibrary.org/obo/MONDO_0002320 congenital nervous system disorder 'congenital nervous system disorder' SubClassOf 'has modifier' some 'congenital' 'congenital nervous system disorder' SubClassOf 'nervous system disease' http://purl.obolibrary.org/obo/MONDO_0002321 sensory peripheral neuropathy 'sensory peripheral neuropathy' SubClassOf 'peripheral neuropathy' http://purl.obolibrary.org/obo/UBERON_0008598 risorius muscle 'risorius muscle' SubClassOf 'facial muscle' http://purl.obolibrary.org/obo/UBERON_0008597 depressor anguli oris muscle 'depressor anguli oris muscle' SubClassOf 'facial muscle' http://purl.obolibrary.org/obo/UBERON_0008596 mentalis muscle 'mentalis muscle' SubClassOf 'facial muscle' http://purl.obolibrary.org/obo/UBERON_0008595 levator anguli oris 'levator anguli oris' SubClassOf 'facial muscle' http://purl.obolibrary.org/obo/UBERON_0008594 zygomaticus minor muscle 'zygomaticus minor muscle' SubClassOf 'zygomaticus muscle' http://purl.obolibrary.org/obo/UBERON_0008593 zygomaticus major muscle 'zygomaticus major muscle' SubClassOf 'zygomaticus muscle' http://purl.obolibrary.org/obo/UBERON_0008592 levator labii superioris alaeque nasi 'levator labii superioris alaeque nasi' SubClassOf 'facial muscle' http://purl.obolibrary.org/obo/UBERON_0008591 depressor supercilii 'depressor supercilii' SubClassOf 'facial muscle' http://purl.obolibrary.org/obo/MONDO_0002331 nephrosis 'nephrosis' SubClassOf 'kidney disease' http://purl.obolibrary.org/obo/MONDO_0002334 hematopoietic and lymphoid system neoplasm 'hematopoietic and lymphoid system neoplasm' SubClassOf 'neoplasm' 'hematopoietic and lymphoid system neoplasm' SubClassOf 'hematologic disease' http://purl.obolibrary.org/obo/MONDO_0016974 thymoma type B 'thymoma type B' SubClassOf 'leukocyte disease' 'thymoma type B' SubClassOf 'Thymoma' http://purl.obolibrary.org/obo/MONDO_0004768 keratoconjunctivitis 'keratoconjunctivitis' SubClassOf 'conjunctivitis' 'keratoconjunctivitis' SubClassOf 'keratitis' http://purl.obolibrary.org/obo/MONDO_0002100 cardiovascular cancer 'cardiovascular cancer' SubClassOf 'cardiovascular neoplasm' 'cardiovascular cancer' SubClassOf 'cancer' http://purl.obolibrary.org/obo/MONDO_0002102 cheilitis 'cheilitis' SubClassOf 'inflammatory disease' 'cheilitis' SubClassOf 'lip disease' http://purl.obolibrary.org/obo/MONDO_0016749 tumor of cranial and spinal nerves 'tumor of cranial and spinal nerves' SubClassOf 'has modifier' some 'rare' 'tumor of cranial and spinal nerves' SubClassOf 'nervous system neoplasm' http://purl.obolibrary.org/obo/MONDO_0002108 thyroid cancer 'thyroid cancer' SubClassOf 'malignant endocrine neoplasm' 'thyroid cancer' SubClassOf 'thyroid tumor' http://purl.obolibrary.org/obo/MONDO_0002116 malignant exocrine pancreas neoplasm 'malignant exocrine pancreas neoplasm' SubClassOf 'pancreatic exocrine neoplasm' 'malignant exocrine pancreas neoplasm' SubClassOf 'Malignant Pancreatic Neoplasm' http://purl.obolibrary.org/obo/MONDO_0004777 acute laryngitis 'acute laryngitis' SubClassOf 'laryngitis' 'acute laryngitis' SubClassOf 'acute disease' http://purl.obolibrary.org/obo/MONDO_0016756 inherited nervous system cancer-predisposing syndrome 'inherited nervous system cancer-predisposing syndrome' SubClassOf 'disease has feature' some 'nervous system cancer' 'inherited nervous system cancer-predisposing syndrome' SubClassOf 'nervous system disease' 'inherited nervous system cancer-predisposing syndrome' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0016752 benign peripheral nerve sheath tumor 'benign peripheral nerve sheath tumor' SubClassOf 'tumor of cranial and spinal nerves' http://purl.obolibrary.org/obo/MONDO_0004789 cholangitis 'cholangitis' SubClassOf 'Non-Neoplastic Bile Duct Disorder' 'cholangitis' SubClassOf 'inflammatory disease' http://purl.obolibrary.org/obo/MONDO_0002129 bone cancer 'bone cancer' SubClassOf 'connective tissue cancer' 'bone cancer' SubClassOf 'bone neoplasm' http://purl.obolibrary.org/obo/MONDO_0002122 neuritis 'neuritis' SubClassOf 'peripheral neuropathy' 'neuritis' SubClassOf 'inflammatory disease' http://purl.obolibrary.org/obo/MONDO_0002123 calcinosis 'calcinosis' SubClassOf 'calcium metabolic disease' http://purl.obolibrary.org/obo/MONDO_0002120 neuroendocrine carcinoma 'neuroendocrine carcinoma' SubClassOf 'carcinoma' 'neuroendocrine carcinoma' SubClassOf 'malignant endocrine neoplasm' 'neuroendocrine carcinoma' SubClassOf 'neuroendocrine neoplasm' 'neuroendocrine carcinoma' EquivalentTo 'malignant endocrine neoplasm' and 'carcinoma' and 'neuroendocrine neoplasm' http://purl.obolibrary.org/obo/MONDO_0004782 diabetes insipidus 'diabetes insipidus' SubClassOf 'kidney disease' http://purl.obolibrary.org/obo/MONDO_0016767 rare cutaneous lichen planus 'rare cutaneous lichen planus' SubClassOf 'has modifier' some 'rare' 'rare cutaneous lichen planus' SubClassOf 'lichen planus' http://purl.obolibrary.org/obo/MONDO_0002134 physiological sexual disorder 'physiological sexual disorder' SubClassOf 'sexual disorder' http://purl.obolibrary.org/obo/MONDO_0002135 optic nerve disease 'optic nerve disease' SubClassOf 'central nervous system disease' 'optic nerve disease' SubClassOf 'disease of visual system' 'optic nerve disease' SubClassOf 'cranial nerve neuropathy' http://purl.obolibrary.org/obo/MONDO_0002132 skull cancer 'skull cancer' SubClassOf 'bone cancer' 'skull cancer' SubClassOf 'head and neck malignant neoplasia' 'skull cancer' SubClassOf 'skull neoplasm' http://purl.obolibrary.org/obo/MONDO_0004790 fatty liver disease 'fatty liver disease' SubClassOf 'liver disease' http://purl.obolibrary.org/obo/MONDO_0002149 reproductive systen cancer 'reproductive systen cancer' SubClassOf 'cancer' 'reproductive systen cancer' SubClassOf 'reproductive system neoplasm' http://purl.obolibrary.org/obo/MONDO_0002146 hypogonadism 'hypogonadism' SubClassOf 'gonadal disease' http://purl.obolibrary.org/obo/MONDO_0016784 gestational trophoblastic disease 'gestational trophoblastic disease' SubClassOf 'has modifier' some 'rare' 'gestational trophoblastic disease' SubClassOf 'female reproductive system neoplasm' 'gestational trophoblastic disease' SubClassOf 'pregnancy disorder' 'gestational trophoblastic disease' EquivalentTo 'Hydatidiform Mole' or 'Gestational trophoblastic neoplasm' http://purl.obolibrary.org/obo/MONDO_0002158 fallopian tube cancer 'fallopian tube cancer' SubClassOf 'female reproductive organ cancer' 'fallopian tube cancer' SubClassOf 'fallopian tube neoplasm' 'fallopian tube cancer' SubClassOf 'rare uterine adnexal tumor' http://purl.obolibrary.org/obo/MONDO_0002150 hypothalamic disease 'hypothalamic disease' SubClassOf 'thalamic disease' http://purl.obolibrary.org/obo/MONDO_0002167 rectum malignant melanoma 'rectum malignant melanoma' SubClassOf 'digestive system melanoma' 'rectum malignant melanoma' SubClassOf 'rectal carcinoma' 'rectum malignant melanoma' SubClassOf 'rectum neuroendocrine neoplasm' http://purl.obolibrary.org/obo/MONDO_0002165 rectal neoplasm 'rectal neoplasm' SubClassOf 'rectal disease' 'rectal neoplasm' SubClassOf 'colorectal neoplasm' http://purl.obolibrary.org/obo/MONDO_0002177 hyperinsulinism (disease) 'hyperinsulinism (disease)' SubClassOf 'endocrine pancreas disease' 'hyperinsulinism (disease)' SubClassOf 'glucose metabolism disease' http://purl.obolibrary.org/obo/MONDO_0002178 placenta cancer 'placenta cancer' SubClassOf 'uterine cancer' 'placenta cancer' SubClassOf 'placenta neoplasm' http://purl.obolibrary.org/obo/MONDO_0002175 degeneration of macula and posterior pole 'degeneration of macula and posterior pole' SubClassOf 'macular degeneration' http://purl.obolibrary.org/obo/MONDO_0002176 connective tissue cancer 'connective tissue cancer' SubClassOf 'musculoskeletal system cancer' 'connective tissue cancer' SubClassOf 'connective tissue neoplasm' http://purl.obolibrary.org/obo/MONDO_0002171 giant cell tumor 'giant cell tumor' SubClassOf 'neoplasm' http://purl.obolibrary.org/obo/MONDO_0002185 hyperostosis 'hyperostosis' SubClassOf 'bone remodeling disease' http://purl.obolibrary.org/obo/MONDO_0002187 vulvar disease 'vulvar disease' SubClassOf 'female reproductive system disease' http://purl.obolibrary.org/obo/MONDO_0002181 exostosis 'exostosis' SubClassOf 'hyperostosis' http://purl.obolibrary.org/obo/MONDO_0002182 communication disorder 'communication disorder' SubClassOf 'specific developmental disorder' http://purl.obolibrary.org/obo/MONDO_0002195 vulvar squamous neoplasm 'vulvar squamous neoplasm' SubClassOf 'squamous cell neoplasm' 'vulvar squamous neoplasm' SubClassOf 'vulvar neoplasm' http://purl.obolibrary.org/obo/UBERON_6110746 presumptive prothoracic metatarsus 'presumptive prothoracic metatarsus' SubClassOf 'anlage' http://purl.obolibrary.org/obo/UBERON_0008420 buccal epithelium 'buccal epithelium' SubClassOf 'oral epithelium' http://purl.obolibrary.org/obo/UBERON_0008425 mammary ridge 'mammary ridge' SubClassOf 'presumptive structure' http://purl.obolibrary.org/obo/UBERON_0008424 inguinal mammary gland 'inguinal mammary gland' SubClassOf 'mammary gland' http://purl.obolibrary.org/obo/UBERON_0008433 lumbar vertebral arch 'lumbar vertebral arch' SubClassOf 'abdominal segment bone' 'lumbar vertebral arch' SubClassOf 'bone of dorsum' 'lumbar vertebral arch' SubClassOf 'neural arch' http://purl.obolibrary.org/obo/UBERON_0008437 posterior arch of atlas 'posterior arch of atlas' SubClassOf 'cervical vertebral arch' http://purl.obolibrary.org/obo/UBERON_0008436 thoracic vertebral arch 'thoracic vertebral arch' SubClassOf 'neural arch' 'thoracic vertebral arch' SubClassOf 'thoracic segment bone' 'thoracic vertebral arch' SubClassOf 'bone of dorsum' http://purl.obolibrary.org/obo/UBERON_0008435 vertebral arch of sacral segment 'vertebral arch of sacral segment' SubClassOf 'neural arch' 'vertebral arch of sacral segment' SubClassOf 'bone of dorsum' 'vertebral arch of sacral segment' SubClassOf 'abdominal segment bone' http://purl.obolibrary.org/obo/UBERON_0008434 cervical vertebral arch 'cervical vertebral arch' SubClassOf 'neck bone' 'cervical vertebral arch' SubClassOf 'neural arch' 'cervical vertebral arch' SubClassOf 'bone of dorsum' http://purl.obolibrary.org/obo/UBERON_0008444 webbed manual digit 'webbed manual digit' SubClassOf 'manual digit' 'webbed manual digit' SubClassOf 'webbed digit' http://purl.obolibrary.org/obo/UBERON_0008443 webbed digit 'webbed digit' SubClassOf 'digit' http://purl.obolibrary.org/obo/UBERON_0008442 webbed pes 'webbed pes' SubClassOf 'pes' http://purl.obolibrary.org/obo/UBERON_0008447 intertarsal joint 'intertarsal joint' SubClassOf 'pes joint' http://purl.obolibrary.org/obo/UBERON_0008446 flexor pollicis longus muscle 'flexor pollicis longus muscle' SubClassOf 'forelimb zeugopod muscle' http://purl.obolibrary.org/obo/UBERON_0008445 webbed pedal digit 'webbed pedal digit' SubClassOf 'pedal digit' 'webbed pedal digit' SubClassOf 'webbed digit' http://purl.obolibrary.org/obo/UBERON_0008408 distal tubular epithelium 'distal tubular epithelium' SubClassOf 'nephron tubule epithelium' http://purl.obolibrary.org/obo/UBERON_0008404 proximal tubular epithelium 'proximal tubular epithelium' SubClassOf 'nephron tubule epithelium' http://purl.obolibrary.org/obo/MONDO_0004805 leukocyte disease 'leukocyte disease' SubClassOf 'disease by cell type' 'leukocyte disease' SubClassOf 'hematologic disease' 'leukocyte disease' SubClassOf 'immune system disease' http://purl.obolibrary.org/obo/MONDO_0004821 nasopharyngeal disease 'nasopharyngeal disease' SubClassOf 'disease of pharynx' 'nasopharyngeal disease' SubClassOf 'upper respiratory tract disease' http://purl.obolibrary.org/obo/MONDO_0004828 lower urinary tract calculus 'lower urinary tract calculus' SubClassOf 'urolithiasis' http://purl.obolibrary.org/obo/MONDO_0004843 pathologic nystagmus 'pathologic nystagmus' SubClassOf 'ocular motility disease' http://purl.obolibrary.org/obo/UBERON_0008455 rectus capitis posterior minor 'rectus capitis posterior minor' SubClassOf 'muscle of vertebral column' 'rectus capitis posterior minor' SubClassOf 'axial muscle' 'rectus capitis posterior minor' SubClassOf 'muscle of neck' http://purl.obolibrary.org/obo/UBERON_0008454 rectus capitis posterior major 'rectus capitis posterior major' SubClassOf 'muscle of vertebral column' 'rectus capitis posterior major' SubClassOf 'muscle of neck' http://purl.obolibrary.org/obo/UBERON_0008453 rectus capitis anterior 'rectus capitis anterior' SubClassOf 'muscle of neck' 'rectus capitis anterior' SubClassOf 'muscle of vertebral column' http://purl.obolibrary.org/obo/UBERON_0008450 psoas muscle 'psoas muscle' SubClassOf 'prevertebral muscle' http://purl.obolibrary.org/obo/MONDO_0004848 ulcerative stomatitis 'ulcerative stomatitis' SubClassOf 'stomatitis' http://purl.obolibrary.org/obo/MONDO_0004857 tendinitis 'tendinitis' SubClassOf 'myositis' 'tendinitis' SubClassOf 'Tendinopathy' http://purl.obolibrary.org/obo/UBERON_0008465 abductor pollicis brevis muscle 'abductor pollicis brevis muscle' SubClassOf 'abductor pollicis muscle' 'abductor pollicis brevis muscle' SubClassOf 'muscle of manus' http://purl.obolibrary.org/obo/UBERON_0008464 abductor hallucis muscle 'abductor hallucis muscle' SubClassOf 'muscle of pes' http://purl.obolibrary.org/obo/MONDO_0041806 drug-resistant tuberculosis 'drug-resistant tuberculosis' SubClassOf 'Tuberculosis' http://purl.obolibrary.org/obo/MONDO_0002203 constipation disorder 'constipation disorder' SubClassOf 'bowel dysfunction' http://purl.obolibrary.org/obo/MONDO_0002206 sweat gland cancer 'sweat gland cancer' SubClassOf 'sweat gland neoplasm' 'sweat gland cancer' SubClassOf 'skin cancer' http://purl.obolibrary.org/obo/MONDO_0004867 upper respiratory tract disease 'upper respiratory tract disease' SubClassOf 'respiratory system disease' http://purl.obolibrary.org/obo/MONDO_0004863 purulent endophthalmitis 'purulent endophthalmitis' SubClassOf 'endophthalmitis' http://purl.obolibrary.org/obo/MONDO_0004860 vitreous disease 'vitreous disease' SubClassOf 'vitreous body disease' http://purl.obolibrary.org/obo/MONDO_0004869 pelvic varices 'pelvic varices' SubClassOf 'abdominal and pelvic region disorder' 'pelvic varices' SubClassOf 'varicose disease' http://purl.obolibrary.org/obo/MONDO_0002217 central nervous system sarcoma 'central nervous system sarcoma' SubClassOf 'soft tissue sarcoma' 'central nervous system sarcoma' SubClassOf 'central nervous system cancer' http://purl.obolibrary.org/obo/MONDO_0002211 B cell deficiency 'B cell deficiency' SubClassOf 'leukocyte disease' 'B cell deficiency' SubClassOf 'immunodeficiency disease' 'B cell deficiency' SubClassOf 'primary immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0004647 in situ carcinoma 'in situ carcinoma' SubClassOf 'carcinoma' 'in situ carcinoma' SubClassOf 'high grade malignant neoplasm' 'in situ carcinoma' SubClassOf 'has modifier' some 'tumor grade 3, general grading system' 'in situ carcinoma' SubClassOf 'precancerous condition' http://purl.obolibrary.org/obo/MONDO_0004643 myeloid leukemia 'myeloid leukemia' SubClassOf 'leukemia' 'myeloid leukemia' SubClassOf 'chronic myeloproliferative disorder' http://purl.obolibrary.org/obo/MONDO_0016628 hemorrhagic disorder due to a coagulation factors defect 'hemorrhagic disorder due to a coagulation factors defect' SubClassOf 'hemorrhagic disease' http://purl.obolibrary.org/obo/MONDO_0016629 hemorrhagic disorder due to a platelet anomaly 'hemorrhagic disorder due to a platelet anomaly' SubClassOf 'hemorrhagic disease' http://purl.obolibrary.org/obo/MONDO_0016625 acquired deficiency anemia 'acquired deficiency anemia' SubClassOf 'deficiency anemia' 'acquired deficiency anemia' SubClassOf 'has modifier' some 'acquired' 'acquired deficiency anemia' SubClassOf 'has modifier' some 'rare' 'acquired deficiency anemia' EquivalentTo 'deficiency anemia' and ('has modifier' some 'acquired') http://purl.obolibrary.org/obo/MONDO_0004649 anaerobic pneumonia 'anaerobic pneumonia' SubClassOf 'aspiration pneumonia (disease)' 'anaerobic pneumonia' SubClassOf 'anaerobic bacteria infectious disease' 'anaerobic pneumonia' EquivalentTo 'anaerobic bacteria infectious disease' and 'pneumonia' 'anaerobic pneumonia' SubClassOf 'bacterial pneumonia' http://purl.obolibrary.org/obo/MONDO_0004657 disseminated chorioretinitis 'disseminated chorioretinitis' SubClassOf 'chorioretinitis (disease)' 'disseminated chorioretinitis' EquivalentTo 'chorioretinitis (disease)' and ('has modifier' some 'disseminated') 'disseminated chorioretinitis' SubClassOf 'has modifier' some 'disseminated' http://purl.obolibrary.org/obo/MONDO_0004658 breast carcinoma in situ 'breast carcinoma in situ' SubClassOf 'breast carcinoma' 'breast carcinoma in situ' SubClassOf 'in situ carcinoma' http://purl.obolibrary.org/obo/MONDO_0016635 thrombotic disorder due to a platelet anomaly 'thrombotic disorder due to a platelet anomaly' SubClassOf 'rare thrombotic disease of hematologic origin' http://purl.obolibrary.org/obo/MONDO_0016637 thrombotic disorder due to an acquired platelet anomaly 'thrombotic disorder due to an acquired platelet anomaly' SubClassOf 'thrombotic disorder due to a platelet anomaly' http://purl.obolibrary.org/obo/MONDO_0016631 hemorrhagic disorder due to an acquired platelet anomaly 'hemorrhagic disorder due to an acquired platelet anomaly' SubClassOf 'hemorrhagic disorder due to a platelet anomaly' http://purl.obolibrary.org/obo/MONDO_0016632 thrombotic disorder due to a coagulation factors defect 'thrombotic disorder due to a coagulation factors defect' SubClassOf 'rare thrombotic disease of hematologic origin' http://purl.obolibrary.org/obo/MONDO_0016634 thrombotic disorder due to an acquired coagulation factors defect 'thrombotic disorder due to an acquired coagulation factors defect' SubClassOf 'thrombotic disorder due to a coagulation factors defect' 'thrombotic disorder due to an acquired coagulation factors defect' SubClassOf 'has modifier' some 'acquired' 'thrombotic disorder due to an acquired coagulation factors defect' EquivalentTo 'thrombotic disorder due to a coagulation factors defect' and ('has modifier' some 'acquired') http://purl.obolibrary.org/obo/UBERON_2007052 hyohyoideus 'hyohyoideus' SubClassOf 'hyoid muscle' http://purl.obolibrary.org/obo/UBERON_2007051 ventral interhyoideus 'ventral interhyoideus' SubClassOf 'hyoid muscle' http://purl.obolibrary.org/obo/UBERON_2007050 constrictor dorsalis 'constrictor dorsalis' SubClassOf 'mandibular muscle' http://purl.obolibrary.org/obo/MONDO_0004669 salivary gland cancer 'salivary gland cancer' SubClassOf 'oral cavity cancer' 'salivary gland cancer' SubClassOf 'Mixed Tumor of the Salivary Gland' http://purl.obolibrary.org/obo/MONDO_0002003 papilledema 'papilledema' SubClassOf 'optic nerve disease' http://purl.obolibrary.org/obo/UBERON_2007053 dorsal adductor hyomandibulae 'dorsal adductor hyomandibulae' SubClassOf 'hyoid muscle' http://purl.obolibrary.org/obo/MONDO_0002000 anaerobic meningitis 'anaerobic meningitis' EquivalentTo 'anaerobic bacteria infectious disease' and 'infectious meningitis' 'anaerobic meningitis' SubClassOf 'anaerobic bacteria infectious disease' 'anaerobic meningitis' SubClassOf 'bacterial meningitis' http://purl.obolibrary.org/obo/MONDO_0002009 major depressive disorder 'major depressive disorder' SubClassOf 'depressive disorder' http://purl.obolibrary.org/obo/MONDO_0004678 dermatophytosis 'dermatophytosis' SubClassOf 'skin infection' 'dermatophytosis' SubClassOf 'superficial mycosis' http://purl.obolibrary.org/obo/MONDO_0002012 methylmalonic acidemia 'methylmalonic acidemia' SubClassOf 'Organic aciduria' http://purl.obolibrary.org/obo/MONDO_0004675 mitochondrial encephalomyopathy 'mitochondrial encephalomyopathy' SubClassOf 'Mitochondrial myopathy' http://purl.obolibrary.org/obo/MONDO_0002013 lymphangioma 'lymphangioma' SubClassOf 'cardiovascular organ benign neoplasm' 'lymphangioma' SubClassOf 'benign epithelial neoplasm' 'lymphangioma' SubClassOf 'lymphatic vessel neoplasm' http://purl.obolibrary.org/obo/MONDO_0004674 chorioretinitis (disease) 'chorioretinitis (disease)' SubClassOf 'uveitis' http://purl.obolibrary.org/obo/MONDO_0004670 lupus erythematosus 'lupus erythematosus' SubClassOf 'rheumatic disease' 'lupus erythematosus' SubClassOf 'type II hypersensitivity reaction disease' http://purl.obolibrary.org/obo/UBERON_2007048 ventral intermandibularis posterior 'ventral intermandibularis posterior' SubClassOf 'skeletal muscle organ' http://purl.obolibrary.org/obo/MONDO_0004689 inborn metal metabolism disorder 'inborn metal metabolism disorder' SubClassOf 'Inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0004686 lattice corneal dystrophy (disease) 'lattice corneal dystrophy (disease)' SubClassOf 'Stromal corneal dystrophy' http://purl.obolibrary.org/obo/MONDO_0004685 Waldeyer's ring cancer 'Waldeyer's ring cancer' SubClassOf 'lymphoid system disease' 'Waldeyer's ring cancer' SubClassOf 'oropharynx cancer' 'Waldeyer's ring cancer' SubClassOf 'immune system cancer' http://purl.obolibrary.org/obo/MONDO_0002025 psychiatric disorder 'psychiatric disorder' SubClassOf 'disease' http://purl.obolibrary.org/obo/MONDO_0002026 candidiasis 'candidiasis' SubClassOf 'opportunistic mycosis' http://purl.obolibrary.org/obo/MONDO_0004681 learning disability 'learning disability' SubClassOf 'specific developmental disorder' http://purl.obolibrary.org/obo/MONDO_0004680 primary thrombocytopenia 'primary thrombocytopenia' SubClassOf 'autoimmune disease of blood' http://purl.obolibrary.org/obo/UBERON_0008297 pennaceous feather 'pennaceous feather' SubClassOf 'vaned feather' http://purl.obolibrary.org/obo/MONDO_0016663 overlapping connective tissue disease 'overlapping connective tissue disease' SubClassOf 'systemic autoimmune disease' http://purl.obolibrary.org/obo/MONDO_0002038 head and neck carcinoma 'head and neck carcinoma' SubClassOf 'head and neck malignant neoplasia' 'head and neck carcinoma' SubClassOf 'carcinoma' http://purl.obolibrary.org/obo/MONDO_0002035 colon lymphoma 'colon lymphoma' SubClassOf 'colorectal lymphoma' 'colon lymphoma' SubClassOf 'malignant colon neoplasm' http://purl.obolibrary.org/obo/MONDO_0004699 gastrointestinal lymphoma 'gastrointestinal lymphoma' SubClassOf 'digestive system cancer' 'gastrointestinal lymphoma' SubClassOf 'lymphoma' http://purl.obolibrary.org/obo/MONDO_0002036 penile disease 'penile disease' SubClassOf 'male reproductive system disease' http://purl.obolibrary.org/obo/MONDO_0002037 pleural disease 'pleural disease' SubClassOf 'lower respiratory tract disease' http://purl.obolibrary.org/obo/MONDO_0004693 squamous carcinoma in situ 'squamous carcinoma in situ' EquivalentTo 'in situ carcinoma' and 'squamous cell carcinoma' 'squamous carcinoma in situ' SubClassOf 'squamous cell carcinoma' 'squamous carcinoma in situ' SubClassOf 'in situ carcinoma' http://purl.obolibrary.org/obo/MONDO_0002031 cecal disease 'cecal disease' SubClassOf 'colonic disease' http://purl.obolibrary.org/obo/MONDO_0004695 liver lymphoma 'liver lymphoma' SubClassOf 'liver cancer' 'liver lymphoma' SubClassOf 'gastrointestinal lymphoma' http://purl.obolibrary.org/obo/MONDO_0002033 cecum cancer 'cecum cancer' SubClassOf 'malignant colon neoplasm' 'cecum cancer' SubClassOf 'cecal neoplasm' http://purl.obolibrary.org/obo/MONDO_0016677 toxic or drug-related embryofetopathy 'toxic or drug-related embryofetopathy' SubClassOf 'rare teratologic disease' http://purl.obolibrary.org/obo/MONDO_0016678 maternal disease-related embryofetopathy 'maternal disease-related embryofetopathy' SubClassOf 'rare teratologic disease' http://purl.obolibrary.org/obo/MONDO_0002045 communicating hydrocephalus 'communicating hydrocephalus' SubClassOf 'brain disease' http://purl.obolibrary.org/obo/MONDO_0002041 fungal infectious disease 'fungal infectious disease' SubClassOf 'infectious disease' http://purl.obolibrary.org/obo/MONDO_0002043 ectropion (disease) 'ectropion (disease)' SubClassOf 'eyelid disease' http://purl.obolibrary.org/obo/MONDO_0002040 dermatomycosis 'dermatomycosis' SubClassOf 'cutaneous mycosis' http://purl.obolibrary.org/obo/MONDO_0016685 low-grade astrocytoma 'low-grade astrocytoma' SubClassOf 'astrocytoma (excluding glioblastoma)' 'low-grade astrocytoma' EquivalentTo 'astrocytoma (excluding glioblastoma)' and ('has modifier' some 'tumor grade 1 or 2, general grading system') 'low-grade astrocytoma' SubClassOf 'low grade astrocytic tumor' http://purl.obolibrary.org/obo/MONDO_0016680 high grade astrocytic tumor 'high grade astrocytic tumor' SubClassOf 'astrocytoma' 'high grade astrocytic tumor' SubClassOf 'malignant glioma' http://purl.obolibrary.org/obo/MONDO_0002052 lymphadenitis (disease) 'lymphadenitis (disease)' SubClassOf 'inflammatory disease' 'lymphadenitis (disease)' SubClassOf 'lymph node disease' http://purl.obolibrary.org/obo/MONDO_0002050 depressive disorder 'depressive disorder' SubClassOf 'mood disorder' http://purl.obolibrary.org/obo/MONDO_0002051 integumentary system disease 'integumentary system disease' SubClassOf 'disease by anatomical system' 'integumentary system disease' SubClassOf 'disorder by anatomical region' http://purl.obolibrary.org/obo/MONDO_0016697 low grade ependymoma 'low grade ependymoma' SubClassOf 'has modifier' some 'tumor grade 1, general grading system' 'low grade ependymoma' EquivalentTo 'ependymoma' and ('has modifier' some 'tumor grade 1, general grading system') 'low grade ependymoma' SubClassOf 'ependymoma' http://purl.obolibrary.org/obo/MONDO_0002078 heart septal defect 'heart septal defect' SubClassOf 'congenital heart disease' http://purl.obolibrary.org/obo/MONDO_0002076 pneumothorax (disease) 'pneumothorax (disease)' SubClassOf 'pleural disease' http://purl.obolibrary.org/obo/MONDO_0002070 ventricular septal defect (disease) 'ventricular septal defect (disease)' SubClassOf 'heart septal defect' http://purl.obolibrary.org/obo/MONDO_0002071 supratentorial cancer 'supratentorial cancer' SubClassOf 'brain cancer' http://purl.obolibrary.org/obo/MONDO_0002089 retinal vascular occlusion 'retinal vascular occlusion' SubClassOf 'vascular occlusion disorder' 'retinal vascular occlusion' SubClassOf 'retinal vascular disease' http://purl.obolibrary.org/obo/MONDO_0002087 peritoneum cancer 'peritoneum cancer' SubClassOf 'cancer' 'peritoneum cancer' SubClassOf 'peritoneal neoplasm' http://purl.obolibrary.org/obo/MONDO_0002082 endocrine gland neoplasm 'endocrine gland neoplasm' SubClassOf 'neoplasm' 'endocrine gland neoplasm' SubClassOf 'endocrine system disease' 'endocrine gland neoplasm' SubClassOf 'endocrine neoplasm' http://purl.obolibrary.org/obo/MONDO_0002090 eccrine sweat gland neoplasm 'eccrine sweat gland neoplasm' SubClassOf 'sweat gland neoplasm' http://purl.obolibrary.org/obo/MONDO_0002093 acanthoma (disease) 'acanthoma (disease)' SubClassOf 'benign epithelial skin neoplasm' http://purl.obolibrary.org/obo/MONDO_0002095 vascular cancer 'vascular cancer' SubClassOf 'blood vessel neoplasm' 'vascular cancer' SubClassOf 'cardiovascular cancer' http://purl.obolibrary.org/obo/UBERON_6110811 presumptive arista 'presumptive arista' SubClassOf 'anlage' http://purl.obolibrary.org/obo/UBERON_0023936 perirhinal cortex of Burwell et al 1995 'perirhinal cortex of Burwell et al 1995' SubClassOf 'Perirhinal cortex' http://purl.obolibrary.org/obo/UBERON_0011952 non-glandular epithelium 'non-glandular epithelium' SubClassOf 'epithelium' 'glandular epithelium' DisjointWith 'non-glandular epithelium' http://purl.obolibrary.org/obo/UBERON_0011957 middle hepatic vein 'middle hepatic vein' SubClassOf 'hepatic vein' http://purl.obolibrary.org/obo/UBERON_0011955 left hepatic vein 'left hepatic vein' SubClassOf 'hepatic vein' http://purl.obolibrary.org/obo/UBERON_0011956 right hepatic vein 'right hepatic vein' SubClassOf 'hepatic vein' http://purl.obolibrary.org/obo/UBERON_0011940 arrector pili muscle of vibrissa 'arrector pili muscle of vibrissa' SubClassOf 'arrector muscle of hair' http://purl.obolibrary.org/obo/UBERON_0011944 subintestinal vein 'subintestinal vein' SubClassOf 'vein' http://purl.obolibrary.org/obo/UBERON_0008307 heart endothelium 'heart endothelium' SubClassOf 'cardiovascular system endothelium' http://purl.obolibrary.org/obo/UBERON_0011971 calcaneofibular ligament 'calcaneofibular ligament' SubClassOf 'calcaneal tendon' http://purl.obolibrary.org/obo/UBERON_0011972 medial ligament of ankle joint 'medial ligament of ankle joint' SubClassOf 'skeletal ligament' http://purl.obolibrary.org/obo/UBERON_0011970 talofibular ligament 'talofibular ligament' SubClassOf 'skeletal ligament' http://purl.obolibrary.org/obo/UBERON_0008311 penile bulb artery 'penile bulb artery' SubClassOf 'abdominal segment blood vessel' 'penile bulb artery' SubClassOf 'systemic artery' http://purl.obolibrary.org/obo/UBERON_0008310 nasopharyngeal gland 'nasopharyngeal gland' SubClassOf 'pharyngeal gland' http://purl.obolibrary.org/obo/UBERON_0023943 molecular system 'molecular system' SubClassOf 'anatomical system' http://purl.obolibrary.org/obo/UBERON_0008323 dorsal artery of clitoris 'dorsal artery of clitoris' SubClassOf 'abdominal segment blood vessel' 'dorsal artery of clitoris' SubClassOf 'systemic artery' http://purl.obolibrary.org/obo/UBERON_0011964 calcaneocuboid joint 'calcaneocuboid joint' SubClassOf 'mesotarsal joint' http://purl.obolibrary.org/obo/UBERON_0008322 deep artery of clitoris 'deep artery of clitoris' SubClassOf 'systemic artery' 'deep artery of clitoris' SubClassOf 'abdominal segment blood vessel' http://purl.obolibrary.org/obo/UBERON_0011965 saddle joint 'saddle joint' SubClassOf 'skeletal joint' http://purl.obolibrary.org/obo/UBERON_0008321 deep artery of penis 'deep artery of penis' SubClassOf 'systemic artery' 'deep artery of penis' SubClassOf 'abdominal segment blood vessel' http://purl.obolibrary.org/obo/UBERON_0011962 transverse tarsal joint 'transverse tarsal joint' SubClassOf 'pes joint' http://purl.obolibrary.org/obo/UBERON_0008320 common penile artery 'common penile artery' SubClassOf 'systemic artery' 'common penile artery' SubClassOf 'penis blood vessel' http://purl.obolibrary.org/obo/UBERON_0011963 talocalcaneonavicular joint 'talocalcaneonavicular joint' SubClassOf 'subtalar joint' http://purl.obolibrary.org/obo/UBERON_0011968 radio-carpal joint 'radio-carpal joint' SubClassOf 'wrist joint' http://purl.obolibrary.org/obo/UBERON_0011969 mesotarsal joint 'mesotarsal joint' SubClassOf 'crurotarsal joint' 'mesotarsal joint' SubClassOf 'pes joint' http://purl.obolibrary.org/obo/UBERON_0011966 manubriosternal joint 'manubriosternal joint' SubClassOf 'symphysis' http://purl.obolibrary.org/obo/UBERON_0011967 costotransverse joint 'costotransverse joint' SubClassOf 'costovertebral joint' http://purl.obolibrary.org/obo/UBERON_0011910 gastrocnemius externus 'gastrocnemius externus' SubClassOf 'hindlimb zeugopod muscle' http://purl.obolibrary.org/obo/UBERON_0011919 yolk sac blood island 'yolk sac blood island' SubClassOf 'blood island' http://purl.obolibrary.org/obo/UBERON_0011903 gizzard smooth muscle 'gizzard smooth muscle' SubClassOf 'stomach smooth muscle' http://purl.obolibrary.org/obo/UBERON_0011909 gastrocnemius internus 'gastrocnemius internus' SubClassOf 'hindlimb zeugopod muscle' http://purl.obolibrary.org/obo/UBERON_0011931 nasal hair 'strand of vibrissa hair' DisjointWith 'nasal hair' 'nasal hair' SubClassOf 'strand of hair of face' http://purl.obolibrary.org/obo/UBERON_0011921 connecting stalk blood islands 'connecting stalk blood islands' SubClassOf 'extraembryonic epithelium' 'connecting stalk blood islands' SubClassOf 'epithelial vesicle' 'connecting stalk blood islands' SubClassOf 'meso-epithelium' http://purl.obolibrary.org/obo/MONDO_0004700 parotid gland cancer 'parotid gland cancer' SubClassOf 'major salivary gland cancer' 'parotid gland cancer' SubClassOf 'parotid gland neoplasm' http://purl.obolibrary.org/obo/UBERON_0008397 tracheobronchial epithelium 'tracheobronchial epithelium' SubClassOf 'respiratory tract epithelium' http://purl.obolibrary.org/obo/MONDO_0004724 submandibular gland cancer 'submandibular gland cancer' SubClassOf 'submandibular gland neoplasm' 'submandibular gland cancer' SubClassOf 'Major Salivary Gland Carcinoma' http://purl.obolibrary.org/obo/MONDO_0016708 embryonal tumor of neuroepithelial tissue 'embryonal tumor of neuroepithelial tissue' SubClassOf 'embryonal neoplasm' 'embryonal tumor of neuroepithelial tissue' SubClassOf 'has modifier' some 'rare' 'embryonal tumor of neuroepithelial tissue' SubClassOf 'neuroepithelial neoplasm' http://purl.obolibrary.org/obo/UBERON_0035963 epithelial lining fluid 'epithelial lining fluid' SubClassOf 'bodily fluid' http://purl.obolibrary.org/obo/MONDO_0016701 oligoastrocytic tumor 'oligoastrocytic tumor' SubClassOf 'Malignant Mixed Neoplasm' 'oligoastrocytic tumor' SubClassOf 'malignant glioma' 'oligoastrocytic tumor' SubClassOf 'mixed glioma' http://purl.obolibrary.org/obo/UBERON_0008331 clitoral smooth muscle 'clitoral smooth muscle' SubClassOf 'smooth muscle tissue' http://purl.obolibrary.org/obo/UBERON_0011996 pharyngeal adductor 'pharyngeal adductor' SubClassOf 'branchial muscle' http://purl.obolibrary.org/obo/UBERON_0035967 alveolar mucosa 'alveolar mucosa' SubClassOf 'mouth mucosa' http://purl.obolibrary.org/obo/UBERON_0008339 microvascular endothelium 'microvascular endothelium' SubClassOf 'cardiovascular system endothelium' http://purl.obolibrary.org/obo/MONDO_0004727 vestibule of mouth cancer 'vestibule of mouth cancer' SubClassOf 'oral cavity cancer' http://purl.obolibrary.org/obo/MONDO_0004736 inherited amino acid metabolic disorder 'inherited amino acid metabolic disorder' SubClassOf 'amino acid metabolism disease' 'inherited amino acid metabolic disorder' SubClassOf 'Organic aciduria' http://purl.obolibrary.org/obo/UBERON_0011982 manual digit 7 'manual digit 7' SubClassOf 'manual digit' 'manual digit 7' SubClassOf 'digit 7' http://purl.obolibrary.org/obo/UBERON_0011983 manual digit 8 'manual digit 8' SubClassOf 'manual digit' 'manual digit 8' SubClassOf 'digit 8' http://purl.obolibrary.org/obo/UBERON_0011980 crurotarsal joint 'crurotarsal joint' SubClassOf 'ankle joint' http://purl.obolibrary.org/obo/UBERON_0011981 manual digit 6 'manual digit 6' SubClassOf 'manual digit' 'manual digit 6' SubClassOf 'digit 6' http://purl.obolibrary.org/obo/UBERON_0008345 ileal epithelium 'ileal epithelium' SubClassOf 'epithelium of intestinal villus' http://purl.obolibrary.org/obo/UBERON_0011986 mucosa of infraorbital sinus 'mucosa of infraorbital sinus' SubClassOf 'mucosa of paranasal sinus' http://purl.obolibrary.org/obo/UBERON_0011984 pedal digit 6 'pedal digit 6' SubClassOf 'pedal digit' http://purl.obolibrary.org/obo/MONDO_0004738 histidine metabolism disease 'histidine metabolism disease' SubClassOf 'amino acid metabolism disease' http://purl.obolibrary.org/obo/MONDO_0004737 homocystinuria (disease) 'homocystinuria (disease)' SubClassOf 'Disorder of methionine cycle and sulfur amino acid metabolism' 'homocystinuria (disease)' DisjointWith 'Methylmalonic acidemia without homocystinuria' http://purl.obolibrary.org/obo/MONDO_0004739 urea cycle disorder 'urea cycle disorder' SubClassOf 'inherited amino acid metabolic disorder' http://purl.obolibrary.org/obo/UBERON_0008346 duodenal epithelium 'duodenal epithelium' SubClassOf 'epithelium of intestinal villus' http://purl.obolibrary.org/obo/MONDO_0004746 myopathy of extraocular muscle 'myopathy of extraocular muscle' SubClassOf 'myopathy' 'myopathy of extraocular muscle' SubClassOf 'Genetic skeletal muscle disease' 'myopathy of extraocular muscle' SubClassOf 'eye adnexa disease' http://purl.obolibrary.org/obo/MONDO_0004741 tyrosinemia 'tyrosinemia' SubClassOf 'Disorder of tyrosine metabolism' http://purl.obolibrary.org/obo/UBERON_2007013 preplacodal ectoderm 'preplacodal ectoderm' SubClassOf 'non-neural ectoderm' http://purl.obolibrary.org/obo/MONDO_0016729 mixed neuronal-glial tumor 'mixed neuronal-glial tumor' SubClassOf 'neuroepithelial neoplasm' 'mixed neuronal-glial tumor' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0016726 neuronal tumor 'neuronal tumor' SubClassOf 'neuroepithelial neoplasm' 'neuronal tumor' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0016721 pineal tumor of neuroepithelial tissue 'pineal tumor of neuroepithelial tissue' SubClassOf 'has modifier' some 'rare' 'pineal tumor of neuroepithelial tissue' SubClassOf 'neuroepithelial neoplasm' 'pineal tumor of neuroepithelial tissue' SubClassOf 'pineal body neoplasm' http://purl.obolibrary.org/obo/MONDO_0004748 lip disease 'lip disease' SubClassOf 'integumentary system disease' 'lip disease' SubClassOf 'mouth disease' http://purl.obolibrary.org/obo/MONDO_0004756 nasal cavity neoplasm 'nasal cavity neoplasm' SubClassOf 'respiratory tract neoplasm' 'nasal cavity neoplasm' SubClassOf 'nasal cavity disease' 'nasal cavity neoplasm' SubClassOf 'head and neck neoplasia' 'nasal cavity neoplasm' SubClassOf 'nervous system neoplasm' http://purl.obolibrary.org/obo/MONDO_0004751 disease of orbital part of eye adnexa 'disease of orbital part of eye adnexa' SubClassOf 'eye adnexa disease' http://purl.obolibrary.org/obo/UBERON_2007005 hemal prezygapophysis 'hemal prezygapophysis' SubClassOf 'bone of dorsum' 'hemal prezygapophysis' SubClassOf 'endochondral bone' http://purl.obolibrary.org/obo/MONDO_0004750 language disorder 'language disorder' SubClassOf 'communication disorder' http://purl.obolibrary.org/obo/UBERON_2007003 ventro-caudal cluster 'ventro-caudal cluster' SubClassOf 'midbrain' http://purl.obolibrary.org/obo/UBERON_2007008 ventral intermandibularis anterior 'ventral intermandibularis anterior' SubClassOf 'skeletal muscle organ' http://purl.obolibrary.org/obo/UBERON_0008367 breast epithelium 'breast epithelium' SubClassOf 'epithelium' http://purl.obolibrary.org/obo/MONDO_0004527 congenital granular cell tumor 'congenital granular cell tumor' SubClassOf 'granular cell cancer' 'congenital granular cell tumor' EquivalentTo 'Granular Cell Tumor' and ('has modifier' some 'congenital') 'congenital granular cell tumor' SubClassOf 'granular cell carcinoma' 'congenital granular cell tumor' SubClassOf 'Granular Cell Tumor' 'congenital granular cell tumor' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0004526 mixed endometrial stromal and smooth muscle tumor 'mixed endometrial stromal and smooth muscle tumor' SubClassOf 'Soft Tissue Neoplasm' 'mixed endometrial stromal and smooth muscle tumor' SubClassOf 'corpus uteri neoplasm' http://purl.obolibrary.org/obo/MONDO_0016507 rare surgically correctable form of primary aldosteronism 'rare surgically correctable form of primary aldosteronism' SubClassOf 'primary aldosteronism' 'rare surgically correctable form of primary aldosteronism' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0016508 rare non surgically correctable form of primary aldosteronism 'rare non surgically correctable form of primary aldosteronism' SubClassOf 'primary aldosteronism' 'rare non surgically correctable form of primary aldosteronism' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0004532 auditory system cancer 'auditory system cancer' SubClassOf 'sensory system cancer' 'auditory system cancer' SubClassOf 'auditory system disease' http://purl.obolibrary.org/obo/MONDO_0016511 infectious embryofetopathy 'infectious embryofetopathy' SubClassOf 'infectious disease' 'infectious embryofetopathy' SubClassOf 'has modifier' some 'rare' 'infectious embryofetopathy' SubClassOf 'rare teratologic disease' http://purl.obolibrary.org/obo/UBERON_2000770 hypaxial region somite 2 'hypaxial region somite 2' SubClassOf 'hypaxial myotome region' http://purl.obolibrary.org/obo/UBERON_2000771 hypaxial region somite 22 'hypaxial region somite 22' SubClassOf 'hypaxial myotome region' http://purl.obolibrary.org/obo/UBERON_2000772 hypaxial region somite 25 'hypaxial region somite 25' SubClassOf 'hypaxial myotome region' http://purl.obolibrary.org/obo/UBERON_2000774 hypaxial region somite 28 'hypaxial region somite 28' SubClassOf 'hypaxial myotome region' http://purl.obolibrary.org/obo/UBERON_2000775 hypaxial region somite 30 'hypaxial region somite 30' SubClassOf 'hypaxial myotome region' http://purl.obolibrary.org/obo/UBERON_2000776 hypaxial region somite 6 'hypaxial region somite 6' SubClassOf 'hypaxial myotome region' http://purl.obolibrary.org/obo/UBERON_2000777 hypaxial region somite 9 'hypaxial region somite 9' SubClassOf 'hypaxial myotome region' http://purl.obolibrary.org/obo/MONDO_0004569 brachial plexus neuropathy from injury 'brachial plexus neuropathy from injury' SubClassOf 'disease arises from feature' some 'injury' 'brachial plexus neuropathy from injury' SubClassOf 'brachial plexus neuropathy' 'brachial plexus neuropathy from injury' EquivalentTo 'brachial plexus neuropathy' and ('disease arises from feature' some 'injury') http://purl.obolibrary.org/obo/MONDO_0004565 intestinal obstruction 'intestinal obstruction' SubClassOf 'intestinal disease' http://purl.obolibrary.org/obo/MONDO_0004567 ileus 'ileus' SubClassOf 'intestinal obstruction' http://purl.obolibrary.org/obo/MONDO_0004566 postgastrectomy syndrome 'postgastrectomy syndrome' SubClassOf 'functional gastric disease' 'postgastrectomy syndrome' SubClassOf 'intestinal disease' http://purl.obolibrary.org/obo/MONDO_0016541 acquired secondary polycythemia 'acquired secondary polycythemia' SubClassOf 'Secondary polycythemia' 'acquired secondary polycythemia' EquivalentTo 'Secondary polycythemia' and ('has modifier' some 'acquired') 'acquired secondary polycythemia' SubClassOf 'acquired polycythemia' http://purl.obolibrary.org/obo/MONDO_0016542 immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome 'immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome' SubClassOf 'Immune dysregulation disease with immunodeficiency' 'immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome' SubClassOf 'inflammatory bowel disease' 'immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome' SubClassOf 'rheumatic disease' http://purl.obolibrary.org/obo/MONDO_0004579 retinoschisis 'retinoschisis' SubClassOf 'retinal degeneration' http://purl.obolibrary.org/obo/MONDO_0016556 transient congenital hypothyroidism due to neonatal factor 'transient congenital hypothyroidism due to neonatal factor' SubClassOf 'transient congenital hypothyroidism' http://purl.obolibrary.org/obo/MONDO_0004587 hereditary night blindness 'hereditary night blindness' SubClassOf 'night blindness' 'hereditary night blindness' EquivalentTo 'night blindness' and ('has modifier' some 'inherited') 'hereditary night blindness' SubClassOf 'Rare genetic neurological disorder' http://purl.obolibrary.org/obo/MONDO_0004586 rheumatoid lung disease 'rheumatoid lung disease' SubClassOf 'disease arises from feature' some 'rheumatoid arthritis' 'rheumatoid lung disease' SubClassOf 'type II hypersensitivity reaction disease' 'rheumatoid lung disease' EquivalentTo 'lung disease' and ('disease arises from feature' some 'rheumatoid arthritis') 'rheumatoid lung disease' SubClassOf 'lung disease' http://purl.obolibrary.org/obo/MONDO_0004588 night blindness 'night blindness' SubClassOf 'retinopathy' 'night blindness' SubClassOf 'blindness (disorder)' http://purl.obolibrary.org/obo/MONDO_0004582 rheumatic myocarditis 'rheumatic myocarditis' SubClassOf 'autoimmune myocarditis' 'rheumatic myocarditis' SubClassOf 'disease arises from feature' some 'rheumatoid arthritis' 'rheumatic myocarditis' EquivalentTo 'myocarditis' and ('disease arises from feature' some 'rheumatoid arthritis') 'rheumatic myocarditis' SubClassOf 'rheumatic heart disease' http://purl.obolibrary.org/obo/MONDO_0004580 retinal degeneration 'retinal degeneration' SubClassOf 'retinopathy' http://purl.obolibrary.org/obo/MONDO_0016569 rare lymphatic malformation 'rare lymphatic malformation' SubClassOf 'rare lymphatic system malformation' http://purl.obolibrary.org/obo/MONDO_0004596 cor pulmonale 'cor pulmonale' SubClassOf 'congestive heart failure' http://purl.obolibrary.org/obo/MONDO_0016587 arrhythmogenic right ventricular cardiomyopathy 'arrhythmogenic right ventricular cardiomyopathy' SubClassOf 'intrinsic cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0016586 systemic mastocytosis 'systemic mastocytosis' SubClassOf 'Mastocytosis' http://purl.obolibrary.org/obo/MONDO_0016593 acquired ataxia 'acquired ataxia' SubClassOf 'cerebellar ataxia' 'acquired ataxia' EquivalentTo 'cerebellar ataxia' and ('has modifier' some 'acquired') 'acquired ataxia' SubClassOf 'has modifier' some 'acquired' http://purl.obolibrary.org/obo/UBERON_0018405 inferior alveolar nerve 'inferior alveolar nerve' SubClassOf 'nerve of head region' http://purl.obolibrary.org/obo/UBERON_0018406 mental nerve 'mental nerve' SubClassOf 'sensory nerve' 'mental nerve' SubClassOf 'nerve of head region' http://purl.obolibrary.org/obo/UBERON_0018401 posterior superior alveolar nerve 'posterior superior alveolar nerve' DisjointWith 'anterior superior alveolar nerve' 'posterior superior alveolar nerve' SubClassOf 'superior alveolar nerve' http://purl.obolibrary.org/obo/UBERON_0018408 infra-orbital nerve 'infra-orbital nerve' SubClassOf 'nerve of head region' 'infra-orbital nerve' SubClassOf 'lower eyelid nerve' http://purl.obolibrary.org/obo/UBERON_0006428 basisphenoid bone 'basisphenoid bone' SubClassOf 'neurocranium bone' 'basisphenoid bone' SubClassOf 'endochondral bone' 'basisphenoid bone' SubClassOf 'facial bone' http://purl.obolibrary.org/obo/UBERON_0006497 interosseous muscle of pes 'interosseous muscle of pes' SubClassOf 'interosseous muscle of autopod' 'interosseous muscle of pes' SubClassOf 'intrinsic muscle of pes' http://purl.obolibrary.org/obo/UBERON_0006499 dorsal pes interosseous muscle 'dorsal pes interosseous muscle' SubClassOf 'interosseous muscle of pes' http://purl.obolibrary.org/obo/UBERON_0006438 principal artery to hindlimb 'principal artery to hindlimb' SubClassOf 'principal artery to limb' http://purl.obolibrary.org/obo/UBERON_0006436 principal artery to forelimb 'principal artery to forelimb' SubClassOf 'principal artery to limb' http://purl.obolibrary.org/obo/UBERON_0006435 os penis 'os penis' SubClassOf 'bone of reproductive organ' http://purl.obolibrary.org/obo/UBERON_0018410 lacteal 'lacteal' SubClassOf 'lymphatic capillary' http://purl.obolibrary.org/obo/UBERON_0018412 vidian nerve 'vidian nerve' SubClassOf 'nerve of head region' http://purl.obolibrary.org/obo/UBERON_0018411 ligament of hip joint 'ligament of hip joint' SubClassOf 'skeletal ligament' http://purl.obolibrary.org/obo/UBERON_0006440 os clitoris 'os clitoris' SubClassOf 'bone of reproductive organ' http://purl.obolibrary.org/obo/UBERON_0006443 prinicipal vein of limb 'prinicipal vein of limb' SubClassOf 'limb blood vessel' 'prinicipal vein of limb' SubClassOf 'vein' http://purl.obolibrary.org/obo/UBERON_2000725 somite 11 'somite 11' SubClassOf 'somite' http://purl.obolibrary.org/obo/UBERON_2000727 somite 17 'somite 17' SubClassOf 'somite' http://purl.obolibrary.org/obo/UBERON_2000729 epaxial region somite 3 'epaxial region somite 3' SubClassOf 'epaxial myotome region' http://purl.obolibrary.org/obo/UBERON_2000715 adductor hyohyoid 'adductor hyohyoid' SubClassOf 'hyoid muscle' http://purl.obolibrary.org/obo/UBERON_2000716 afferent portion of pharyngeal arch artery 'afferent portion of pharyngeal arch artery' SubClassOf 'head blood vessel' 'afferent portion of pharyngeal arch artery' SubClassOf 'respiratory system artery' http://purl.obolibrary.org/obo/UBERON_2000717 apical ectodermal ridge median fin fold 'apical ectodermal ridge median fin fold' SubClassOf 'apical ectodermal ridge' http://purl.obolibrary.org/obo/UBERON_2000718 epaxial region somite 27 'epaxial region somite 27' SubClassOf 'epaxial myotome region' http://purl.obolibrary.org/obo/UBERON_2000701 ventral arrector 'ventral arrector' SubClassOf 'arrector muscle' 'ventral arrector' SubClassOf 'pectoral appendage muscle' http://purl.obolibrary.org/obo/UBERON_2000704 ventral pelvic arrector 'ventral pelvic arrector' SubClassOf 'pelvic appendage muscle' 'ventral pelvic arrector' SubClassOf 'arrector muscle' http://purl.obolibrary.org/obo/MONDO_0004603 collagenopathy 'collagenopathy' SubClassOf 'connective tissue disease' 'collagenopathy' SubClassOf 'disease of macromolecular complex' http://purl.obolibrary.org/obo/MONDO_0004600 monocytic leukemia 'monocytic leukemia' SubClassOf 'leukemia' http://purl.obolibrary.org/obo/UBERON_2000767 hypaxial region somite 11 'hypaxial region somite 11' SubClassOf 'hypaxial myotome region' http://purl.obolibrary.org/obo/UBERON_2000768 hypaxial region somite 14 'hypaxial region somite 14' SubClassOf 'hypaxial myotome region' http://purl.obolibrary.org/obo/UBERON_2000769 hypaxial region somite 17 'hypaxial region somite 17' SubClassOf 'hypaxial myotome region' http://purl.obolibrary.org/obo/MONDO_0004609 herpes simplex infectious disease 'herpes simplex infectious disease' SubClassOf 'Herpesviridae infectious disease' http://purl.obolibrary.org/obo/UBERON_2000751 epaxial region somite 8 'epaxial region somite 8' SubClassOf 'epaxial myotome region' http://purl.obolibrary.org/obo/MONDO_0004617 recurrent hypersomnia 'recurrent hypersomnia' SubClassOf 'Sleep Disorder' http://purl.obolibrary.org/obo/UBERON_2000740 epaxial region somite 5 'epaxial region somite 5' SubClassOf 'epaxial myotome region' http://purl.obolibrary.org/obo/UBERON_2000741 epaxial region somite 14 'epaxial region somite 14' SubClassOf 'epaxial myotome region' http://purl.obolibrary.org/obo/UBERON_2000742 epaxial region somite 17 'epaxial region somite 17' SubClassOf 'epaxial myotome region' http://purl.obolibrary.org/obo/UBERON_2000743 epaxial region somite 2 'epaxial region somite 2' SubClassOf 'epaxial myotome region' http://purl.obolibrary.org/obo/UBERON_2000744 epaxial region somite 22 'epaxial region somite 22' SubClassOf 'epaxial myotome region' http://purl.obolibrary.org/obo/UBERON_2000745 epaxial region somite 25 'epaxial region somite 25' SubClassOf 'epaxial myotome region' http://purl.obolibrary.org/obo/UBERON_2000746 epaxial region somite 28 'epaxial region somite 28' SubClassOf 'epaxial myotome region' http://purl.obolibrary.org/obo/UBERON_2000747 epaxial region somite 30 'epaxial region somite 30' SubClassOf 'epaxial myotome region' http://purl.obolibrary.org/obo/UBERON_2000748 epaxial region somite 6 'epaxial region somite 6' SubClassOf 'epaxial myotome region' http://purl.obolibrary.org/obo/UBERON_2000749 epaxial region somite 9 'epaxial region somite 9' SubClassOf 'epaxial myotome region' http://purl.obolibrary.org/obo/MONDO_0004634 vein disease 'vein disease' SubClassOf 'vascular disease' http://purl.obolibrary.org/obo/UBERON_2000730 somite 23 'somite 23' SubClassOf 'somite' http://purl.obolibrary.org/obo/UBERON_2000731 somite 27 'somite 27' SubClassOf 'somite' http://purl.obolibrary.org/obo/UBERON_2000733 somite 7 'somite 7' SubClassOf 'somite' http://purl.obolibrary.org/obo/UBERON_2000734 preural vertebra 'preural vertebra' SubClassOf 'fin bone' 'preural vertebra' SubClassOf 'caudal vertebra' http://purl.obolibrary.org/obo/UBERON_2000735 hemal postzygapophysis 'hemal postzygapophysis' SubClassOf 'bone of dorsum' 'hemal postzygapophysis' SubClassOf 'endochondral bone' http://purl.obolibrary.org/obo/UBERON_2000739 epaxial region somite 11 'epaxial region somite 11' SubClassOf 'epaxial myotome region' http://purl.obolibrary.org/obo/MONDO_0004403 childhood precursor T-lymphoblastic lymphoma/leukemia 'childhood precursor T-lymphoblastic lymphoma/leukemia' SubClassOf 'precursor T-lymphoblastic lymphoma/leukemia' 'childhood precursor T-lymphoblastic lymphoma/leukemia' SubClassOf 'childhood leukemia' http://purl.obolibrary.org/obo/UBERON_2000685 superficial abductor 'superficial abductor' SubClassOf 'pectoral appendage muscle' 'superficial abductor' SubClassOf 'abductor muscle' http://purl.obolibrary.org/obo/UBERON_4500010 unbranched pectoral fin ray 'unbranched pectoral fin ray' SubClassOf 'pectoral fin ray' http://purl.obolibrary.org/obo/UBERON_4500011 unbranched pelvic fin ray 'unbranched pelvic fin ray' SubClassOf 'pelvic fin ray' http://purl.obolibrary.org/obo/UBERON_4500006 anal fin ray 'anal fin ray' SubClassOf 'anal fin lepidotrichium' http://purl.obolibrary.org/obo/UBERON_4500007 pectoral fin ray 'pectoral fin ray' SubClassOf 'pectoral fin lepidotrichium' http://purl.obolibrary.org/obo/UBERON_4500008 median fin lepidotrichium 'median fin lepidotrichium' SubClassOf 'lepidotrichium' http://purl.obolibrary.org/obo/UBERON_4500009 paired fin spine 'paired fin spine' SubClassOf 'paired fin lepidotrichium' 'paired fin spine' SubClassOf 'fin spine' http://purl.obolibrary.org/obo/UBERON_2000673 hypobranchial artery 'hypobranchial artery' SubClassOf 'artery' http://purl.obolibrary.org/obo/UBERON_4500002 upper uroneural 'upper uroneural' SubClassOf 'uroneural' http://purl.obolibrary.org/obo/UBERON_4500003 predorsal scale 'predorsal scale' SubClassOf 'dermal scale' http://purl.obolibrary.org/obo/UBERON_4500004 adipose fin skeleton 'adipose fin skeleton' SubClassOf 'median fin skeleton' http://purl.obolibrary.org/obo/UBERON_4500005 prenasal ossicle 'prenasal ossicle' SubClassOf 'facial bone' 'prenasal ossicle' SubClassOf 'dermal bone' http://purl.obolibrary.org/obo/UBERON_2000662 external pharyngoclavicularis 'external pharyngoclavicularis' SubClassOf 'branchial muscle' http://purl.obolibrary.org/obo/MONDO_0016404 metabolic neurotransmission anomaly with epilepsy 'metabolic neurotransmission anomaly with epilepsy' SubClassOf 'metabolic disease with epilepsy' http://purl.obolibrary.org/obo/UBERON_2000663 extrascapula 'extrascapula' SubClassOf 'pectoral girdle bone' 'extrascapula' SubClassOf 'dermal bone' http://purl.obolibrary.org/obo/MONDO_0016405 sterol metabolism disorder with epilepsy 'sterol metabolism disorder with epilepsy' SubClassOf 'Sterol metabolism disorder' 'sterol metabolism disorder with epilepsy' SubClassOf 'metabolic disease with epilepsy' 'sterol metabolism disorder with epilepsy' SubClassOf 'Rare genetic neurological disorder' http://purl.obolibrary.org/obo/MONDO_0016406 other metabolic disease with epilepsy 'other metabolic disease with epilepsy' SubClassOf 'metabolic disease with epilepsy' http://purl.obolibrary.org/obo/UBERON_2000666 filamental artery 'filamental artery' SubClassOf 'respiratory system artery' http://purl.obolibrary.org/obo/MONDO_0016400 metal transport or utilization disorder with epilepsy 'metal transport or utilization disorder with epilepsy' SubClassOf 'metabolic disease with epilepsy' http://purl.obolibrary.org/obo/MONDO_0016401 energy metabolism disorder with epilepsy 'energy metabolism disorder with epilepsy' SubClassOf 'metabolic disease with epilepsy' 'energy metabolism disorder with epilepsy' SubClassOf 'Disorder of energy metabolism' 'energy metabolism disorder with epilepsy' SubClassOf 'Rare genetic neurological disorder' http://purl.obolibrary.org/obo/MONDO_0016402 mitochondrial disease with epilepsy 'mitochondrial disease with epilepsy' SubClassOf 'metabolic epilepsy' 'mitochondrial disease with epilepsy' SubClassOf 'energy metabolism disorder with epilepsy' 'mitochondrial disease with epilepsy' SubClassOf 'congenital nervous system disorder' 'mitochondrial disease with epilepsy' SubClassOf 'inborn mitochondrial metabolism disorder' http://purl.obolibrary.org/obo/UBERON_2000651 dorsal pelvic arrector 'dorsal pelvic arrector' SubClassOf 'arrector muscle' 'dorsal pelvic arrector' SubClassOf 'pelvic appendage muscle' http://purl.obolibrary.org/obo/UBERON_2000658 epibranchial bone 'epibranchial bone' SubClassOf 'endochondral bone' http://purl.obolibrary.org/obo/MONDO_0016428 multiple sclerosis variant 'multiple sclerosis variant' SubClassOf 'rare neuroinflammatory or neuroimmunological disease' http://purl.obolibrary.org/obo/MONDO_0016434 acquired dermis elastic tissue disorder 'acquired dermis elastic tissue disorder' SubClassOf 'Genetic dermis elastic tissue disorder' 'acquired dermis elastic tissue disorder' EquivalentTo 'Genetic dermis elastic tissue disorder' and ('has modifier' some 'acquired') 'acquired dermis elastic tissue disorder' SubClassOf 'has modifier' some 'acquired' http://purl.obolibrary.org/obo/MONDO_0016435 acquired dermis elastic tissue disorder with decreased elastic tissue 'acquired dermis elastic tissue disorder with decreased elastic tissue' SubClassOf 'acquired dermis elastic tissue disorder' http://purl.obolibrary.org/obo/MONDO_0016436 acquired dermis elastic tissue disorder with increased elastic tissue 'acquired dermis elastic tissue disorder with increased elastic tissue' SubClassOf 'acquired dermis elastic tissue disorder' http://purl.obolibrary.org/obo/MONDO_0016446 acquired cutis laxa 'acquired cutis laxa' SubClassOf 'Cutis laxa' 'acquired cutis laxa' SubClassOf 'acquired dermis elastic tissue disorder with decreased elastic tissue' 'acquired cutis laxa' EquivalentTo 'Cutis laxa' and ('has modifier' some 'acquired') http://purl.obolibrary.org/obo/MONDO_0016441 acquired pseudoxanthoma elasticum 'acquired pseudoxanthoma elasticum' EquivalentTo 'pseudoxanthoma elasticum (inherited or acquired)' and ('has modifier' some 'acquired') 'acquired pseudoxanthoma elasticum' SubClassOf 'pseudoxanthoma elasticum (inherited or acquired)' 'acquired pseudoxanthoma elasticum' SubClassOf 'acquired dermis elastic tissue disorder with increased elastic tissue' http://purl.obolibrary.org/obo/MONDO_0004479 malignant childhood germ cell neoplasm 'malignant childhood germ cell neoplasm' SubClassOf 'childhood germ cell tumor' 'malignant childhood germ cell neoplasm' SubClassOf 'Malignant Germ Cell Tumor' 'malignant childhood germ cell neoplasm' SubClassOf 'childhood cancer' 'malignant childhood germ cell neoplasm' EquivalentTo 'Malignant Germ Cell Tumor' and 'childhood cancer' http://purl.obolibrary.org/obo/UBERON_2000691 supraorbital bone 'supraorbital bone' SubClassOf 'dermal bone' 'supraorbital bone' SubClassOf 'facial bone' http://purl.obolibrary.org/obo/UBERON_2000694 ceratobranchial 5 tooth 'ceratobranchial 5 tooth' SubClassOf 'tooth' http://purl.obolibrary.org/obo/UBERON_2000698 tripus 'tripus' SubClassOf 'endochondral bone' http://purl.obolibrary.org/obo/UBERON_0008939 pedal ganglion 'pedal ganglion' SubClassOf 'ganglion' http://purl.obolibrary.org/obo/UBERON_0008935 gastropod albumen gland 'gastropod albumen gland' SubClassOf 'female reproductive gland' http://purl.obolibrary.org/obo/UBERON_0008934 secondary somatosensory cortex 'secondary somatosensory cortex' SubClassOf 'somatosensory cortex' http://purl.obolibrary.org/obo/UBERON_0008933 primary somatosensory cortex 'primary somatosensory cortex' SubClassOf 'somatosensory cortex' http://purl.obolibrary.org/obo/MONDO_0004497 tertiary syphilis 'tertiary syphilis' SubClassOf 'syphilis' http://purl.obolibrary.org/obo/MONDO_0041447 metastatic malignant neoplasm in the colon 'metastatic malignant neoplasm in the colon' SubClassOf 'secondary carcinoma' 'metastatic malignant neoplasm in the colon' SubClassOf 'metastatic malignant neoplasm' 'metastatic malignant neoplasm in the colon' EquivalentTo 'metastatic malignant neoplasm' and ('disease arises from feature' some 'malignant colon neoplasm') 'metastatic malignant neoplasm in the colon' SubClassOf 'disease arises from feature' some 'malignant colon neoplasm' http://purl.obolibrary.org/obo/UBERON_0008947 respiratory primordium 'respiratory primordium' SubClassOf 'primordium' http://purl.obolibrary.org/obo/MONDO_0016474 drug-induced lupus erythematosus 'drug-induced lupus erythematosus' SubClassOf 'systemic autoimmune disease' 'drug-induced lupus erythematosus' SubClassOf 'lupus erythematosus' 'drug-induced lupus erythematosus' SubClassOf 'systemic disease with skin involvement' http://purl.obolibrary.org/obo/UBERON_0008945 extraembryonic endoderm 'extraembryonic endoderm' SubClassOf 'extraembryonic tissue' 'extraembryonic endoderm' SubClassOf 'unilaminar epithelium' http://purl.obolibrary.org/obo/UBERON_0008942 gastropod cerebral ganglion 'gastropod cerebral ganglion' SubClassOf 'ganglion' http://purl.obolibrary.org/obo/UBERON_0008941 pleural ganglion 'pleural ganglion' SubClassOf 'ganglion' http://purl.obolibrary.org/obo/UBERON_0008940 parietal ganglion 'parietal ganglion' SubClassOf 'ganglion' http://purl.obolibrary.org/obo/UBERON_0006309 venous vitelline plexus 'venous vitelline plexus' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0008961 parabronchus 'parabronchus' SubClassOf 'segmental bronchus' http://purl.obolibrary.org/obo/UBERON_0008969 dental follicle 'dental follicle' SubClassOf 'epithelial sac' 'dental follicle' SubClassOf 'ecto-epithelium' http://purl.obolibrary.org/obo/UBERON_0006307 urogenital membrane 'urogenital membrane' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0006304 future trigeminal ganglion 'future trigeminal ganglion' SubClassOf 'presumptive ganglion' http://purl.obolibrary.org/obo/UBERON_0006305 tunica vasculosa lentis 'tunica vasculosa lentis' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0006303 tracheal diverticulum 'tracheal diverticulum' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0008964 abdominal ganglion of visceral hump 'abdominal ganglion of visceral hump' SubClassOf 'ganglion' 'abdominal ganglion of visceral hump' DisjointWith 'abdominal ganglion' http://purl.obolibrary.org/obo/MONDO_0016493 variant of Guillain-Barre syndrome 'variant of Guillain-Barre syndrome' SubClassOf 'Guillain-Barre syndrome' http://purl.obolibrary.org/obo/UBERON_0006300 supracardinal vein 'supracardinal vein' SubClassOf 'systemic vein' http://purl.obolibrary.org/obo/MONDO_0016494 regional variant of Guillain-Barre syndrome 'regional variant of Guillain-Barre syndrome' SubClassOf 'variant of Guillain-Barre syndrome' http://purl.obolibrary.org/obo/UBERON_0008962 forelimb bone 'forelimb bone' SubClassOf 'bone of pectoral complex' 'forelimb bone' SubClassOf 'limb bone' http://purl.obolibrary.org/obo/UBERON_0008909 perichordal bone 'perichordal bone' SubClassOf 'replacement bone' 'perichordal bone' DisjointWith 'perichondral bone' http://purl.obolibrary.org/obo/UBERON_0008907 dermal bone 'dermal bone' SubClassOf 'membrane bone' http://purl.obolibrary.org/obo/UBERON_0008906 lateral line nerve 'lateral line nerve' SubClassOf 'cranial nerve' http://purl.obolibrary.org/obo/UBERON_0008913 perichondral bone 'perichordal bone' DisjointWith 'perichondral bone' 'perichondral bone' SubClassOf 'membrane bone' 'perichondral bone' SubClassOf 'endochondral bone' http://purl.obolibrary.org/obo/UBERON_0008911 chondral bone 'chondral bone' SubClassOf 'replacement bone' http://purl.obolibrary.org/obo/UBERON_0018343 oviduct mucosal fold 'oviduct mucosal fold' SubClassOf 'reproductive system mucosa' http://purl.obolibrary.org/obo/UBERON_0018348 petrosal bone 'petrosal bone' SubClassOf 'cranial bone' http://purl.obolibrary.org/obo/UBERON_0006353 principal vein of hindlimb 'principal vein of hindlimb' SubClassOf 'hindlimb blood vessel' 'principal vein of hindlimb' SubClassOf 'prinicipal vein of limb' http://purl.obolibrary.org/obo/UBERON_0006351 principal vein of forelimb 'principal vein of forelimb' SubClassOf 'forelimb blood vessel' 'principal vein of forelimb' SubClassOf 'prinicipal vein of limb' http://purl.obolibrary.org/obo/UBERON_0006359 mesoduodenum 'mesoduodenum' SubClassOf 'mesentery of small intestine' http://purl.obolibrary.org/obo/UBERON_0006358 vasa hyaloidea propria 'vasa hyaloidea propria' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0006355 superior vesical vein 'superior vesical vein' SubClassOf 'vesical vein' http://purl.obolibrary.org/obo/UBERON_0006356 epigastric vein 'epigastric vein' SubClassOf 'vein' http://purl.obolibrary.org/obo/UBERON_0018331 intraramal joint 'intraramal joint' SubClassOf 'synovial joint' http://purl.obolibrary.org/obo/UBERON_0018335 lateral dorsal aorta canal 'lateral dorsal aorta canal' SubClassOf 'systemic artery' 'lateral dorsal aorta canal' SubClassOf 'trunk blood vessel' http://purl.obolibrary.org/obo/UBERON_0006364 ureteric bud tip 'ureteric bud tip' SubClassOf 'epithelial layer of duct' 'ureteric bud tip' SubClassOf 'mesonephric tubule' 'ureteric bud tip' SubClassOf 'epithelial sac' http://purl.obolibrary.org/obo/UBERON_0018366 supratendinal bridge 'supratendinal bridge' SubClassOf 'bone' http://purl.obolibrary.org/obo/UBERON_0006376 premacula segment of distal straight tubule 'premacula segment of distal straight tubule' SubClassOf 'region of nephron tubule' http://purl.obolibrary.org/obo/UBERON_0006378 strand of vibrissa hair 'strand of vibrissa hair' SubClassOf 'strand of hair' 'strand of vibrissa hair' DisjointWith 'nasal hair' http://purl.obolibrary.org/obo/UBERON_0018355 rictal bristle 'rictal bristle' SubClassOf 'feather' http://purl.obolibrary.org/obo/UBERON_0018356 rostral entotympanic element 'rostral entotympanic element' SubClassOf 'entotympanic bone' http://purl.obolibrary.org/obo/UBERON_0018300 upper canine 1 'upper canine 1' SubClassOf 'upper canine tooth' http://purl.obolibrary.org/obo/UBERON_0018302 upper molar 1 'upper molar 1' SubClassOf 'upper jaw molar' 'upper molar 1' SubClassOf 'molar tooth 1' http://purl.obolibrary.org/obo/UBERON_0018301 upper deciduous premolar 5 'upper deciduous premolar 5' SubClassOf 'deciduous premolar 5' 'upper deciduous premolar 5' SubClassOf 'upper primary premolar tooth' http://purl.obolibrary.org/obo/UBERON_0006310 vitelline venous plexus 'vitelline venous plexus' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0008979 carcass 'carcass' SubClassOf 'whole organism' http://purl.obolibrary.org/obo/UBERON_0008976 snake venom gland 'snake venom gland' SubClassOf 'venom gland' http://purl.obolibrary.org/obo/UBERON_0008975 oviduct shell gland 'oviduct shell gland' SubClassOf 'female reproductive gland' http://purl.obolibrary.org/obo/UBERON_0008974 apocrine gland 'apocrine gland' SubClassOf 'exocrine gland' 'apocrine gland' DisjointWith 'merocrine gland' http://purl.obolibrary.org/obo/UBERON_0006320 inferior oblique extraocular muscle 'inferior oblique extraocular muscle' SubClassOf 'oblique extraocular muscle' http://purl.obolibrary.org/obo/UBERON_0006321 superior oblique extraocular muscle 'superior oblique extraocular muscle' SubClassOf 'oblique extraocular muscle' http://purl.obolibrary.org/obo/UBERON_0006328 laryngeal intrinsic muscle 'laryngeal intrinsic muscle' SubClassOf 'muscle of larynx' http://purl.obolibrary.org/obo/UBERON_0006329 superior pharyngeal constrictor 'superior pharyngeal constrictor' SubClassOf 'constrictor muscle of pharynx' http://purl.obolibrary.org/obo/UBERON_0008989 submocosal esophageal gland 'submocosal esophageal gland' SubClassOf 'submucosal gland' 'submocosal esophageal gland' SubClassOf 'gland of digestive tract' http://purl.obolibrary.org/obo/UBERON_0006327 laryngeal extrinsic muscle 'laryngeal extrinsic muscle' SubClassOf 'muscle of larynx' http://purl.obolibrary.org/obo/UBERON_0006325 laryngeal intrinsic ligament 'laryngeal intrinsic ligament' SubClassOf 'ligament of larynx' http://purl.obolibrary.org/obo/UBERON_0006322 inferior rectus extraocular muscle 'inferior rectus extraocular muscle' SubClassOf 'rectus extraocular muscle' http://purl.obolibrary.org/obo/UBERON_0006323 superior rectus extraocular muscle 'superior rectus extraocular muscle' SubClassOf 'rectus extraocular muscle' http://purl.obolibrary.org/obo/UBERON_0018320 flexor sesamoid 'flexor sesamoid' SubClassOf 'sesamoid bone' http://purl.obolibrary.org/obo/UBERON_0018322 fourth phalanx 'fourth phalanx' SubClassOf 'phalanx' http://purl.obolibrary.org/obo/UBERON_0008994 equine glandular stomach 'equine glandular stomach' SubClassOf 'stomach' http://purl.obolibrary.org/obo/UBERON_0006330 anterior lingual gland 'anterior lingual gland' SubClassOf 'gland of tongue' 'anterior lingual gland' SubClassOf 'minor salivary gland' 'anterior lingual gland' SubClassOf 'mucous gland' http://purl.obolibrary.org/obo/UBERON_0006337 distal early tubule 'distal early tubule' SubClassOf 'region of nephron tubule' http://purl.obolibrary.org/obo/UBERON_0018310 cephalic dermal scale 'cephalic dermal scale' SubClassOf 'dermal scale' http://purl.obolibrary.org/obo/UBERON_0018317 dorsal osteoderm 'dorsal osteoderm' SubClassOf 'scute' http://purl.obolibrary.org/obo/UBERON_0018312 cheek scale 'cheek scale' SubClassOf 'scale' http://purl.obolibrary.org/obo/UBERON_0006341 outer renal medulla peritubular capillary 'outer renal medulla peritubular capillary' SubClassOf 'peritubular capillary' http://purl.obolibrary.org/obo/UBERON_0006349 epigastric artery 'epigastric artery' SubClassOf 'artery' http://purl.obolibrary.org/obo/UBERON_0006347 communicating artery 'communicating artery' SubClassOf 'artery' http://purl.obolibrary.org/obo/UBERON_0006345 stapedial artery 'stapedial artery' SubClassOf 'artery' 'stapedial artery' SubClassOf 'head blood vessel' http://purl.obolibrary.org/obo/UBERON_2000602 uroneural 'uroneural' SubClassOf 'fin bone' 'uroneural' SubClassOf 'neural arch' http://purl.obolibrary.org/obo/UBERON_2000608 ventral transverse 'ventral transverse' SubClassOf 'branchial muscle' http://purl.obolibrary.org/obo/UBERON_0018385 metacercaria 'metacercaria' SubClassOf 'larva' http://purl.obolibrary.org/obo/UBERON_0018388 cercaria 'cercaria' SubClassOf 'larva' http://purl.obolibrary.org/obo/UBERON_0018387 cestode 'cestode' SubClassOf 'larva' http://purl.obolibrary.org/obo/UBERON_0018382 second instar larva 'second instar larva' SubClassOf 'larva' http://purl.obolibrary.org/obo/UBERON_2000646 anal fin distal radial bone 'anal fin distal radial bone' SubClassOf 'anal fin radial bone' http://purl.obolibrary.org/obo/UBERON_0018375 deciduous premolar 5 'deciduous premolar 5' SubClassOf 'premolar tooth 5' 'deciduous premolar 5' SubClassOf 'primary premolar tooth' http://purl.obolibrary.org/obo/UBERON_0018377 molar tooth 3 'molar tooth 3' SubClassOf 'molar tooth' http://purl.obolibrary.org/obo/UBERON_0018376 molar tooth 1 'molar tooth 1' SubClassOf 'molar tooth' http://purl.obolibrary.org/obo/UBERON_0018379 metacestode 'metacestode' SubClassOf 'larva' http://purl.obolibrary.org/obo/UBERON_0018378 crustacean larval stage 'crustacean larval stage' SubClassOf 'larval stage' http://purl.obolibrary.org/obo/UBERON_2000620 autopalatine 'autopalatine' SubClassOf 'endochondral bone' 'autopalatine' SubClassOf 'bone of upper jaw' http://purl.obolibrary.org/obo/UBERON_2000623 basipterygium bone 'basipterygium bone' SubClassOf 'endochondral bone' 'basipterygium bone' SubClassOf 'pelvic girdle bone/zone' http://purl.obolibrary.org/obo/UBERON_2000628 caudal fin musculature 'caudal fin musculature' SubClassOf 'appendage musculature' http://purl.obolibrary.org/obo/UBERON_0018397 posterior superior alveolar artery 'posterior superior alveolar artery' SubClassOf 'artery' http://purl.obolibrary.org/obo/UBERON_0018398 superior alveolar nerve 'superior alveolar nerve' SubClassOf 'nerve of head region' http://purl.obolibrary.org/obo/UBERON_2000614 abductor profundus 'abductor profundus' SubClassOf 'abductor muscle' 'abductor profundus' SubClassOf 'pectoral appendage muscle' http://purl.obolibrary.org/obo/UBERON_2000615 adductor arcus palatini 'adductor arcus palatini' SubClassOf 'hyoid muscle' http://purl.obolibrary.org/obo/UBERON_2000616 adductor profundus 'adductor profundus' SubClassOf 'adductor muscle' 'adductor profundus' SubClassOf 'pectoral appendage muscle' http://purl.obolibrary.org/obo/UBERON_2000617 anal erector 'anal erector' SubClassOf 'erector muscle' http://purl.obolibrary.org/obo/MONDO_0018926 human prion disease 'human prion disease' SubClassOf 'neurodegenerative disease with dementia' http://purl.obolibrary.org/obo/MONDO_0004338 retinal cell cancer 'retinal cell cancer' SubClassOf 'retinal cancer' 'retinal cell cancer' SubClassOf 'retinal cell neoplasm' http://purl.obolibrary.org/obo/MONDO_0018972 rare epithelial tumor of stomach 'rare epithelial tumor of stomach' SubClassOf 'rare gastroesophageal tumor' http://purl.obolibrary.org/obo/MONDO_0004348 retinal telangiectasia 'retinal telangiectasia' SubClassOf 'retinal vascular disease' http://purl.obolibrary.org/obo/MONDO_0004346 signet ring cell intrahepatic cholangiocarcinoma 'signet ring cell intrahepatic cholangiocarcinoma' SubClassOf 'intrahepatic cholangiocarcinoma' 'signet ring cell intrahepatic cholangiocarcinoma' EquivalentTo 'signet ring cell carcinoma' and 'intrahepatic cholangiocarcinoma' 'signet ring cell intrahepatic cholangiocarcinoma' SubClassOf 'extrahepatic bile duct signet ring cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0004355 childhood leukemia 'childhood leukemia' SubClassOf 'childhood cancer' 'childhood leukemia' SubClassOf 'leukemia' 'childhood leukemia' SubClassOf 'bone marrow cancer' http://purl.obolibrary.org/obo/MONDO_0016338 non-familial dilated cardiomyopathy 'non-familial dilated cardiomyopathy' SubClassOf 'dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0016330 non-familial hypertrophic cardiomyopathy 'non-familial hypertrophic cardiomyopathy' EquivalentTo 'hypertrophic cardiomyopathy' and ('has modifier' some 'acquired') 'non-familial hypertrophic cardiomyopathy' SubClassOf 'has modifier' some 'acquired' 'non-familial hypertrophic cardiomyopathy' SubClassOf 'hypertrophic cardiomyopathy' http://purl.obolibrary.org/obo/UBERON_0008817 thymus primordium endoderm 'thymus primordium endoderm' SubClassOf 'endoderm' http://purl.obolibrary.org/obo/UBERON_0008816 embryonic head 'embryonic head' SubClassOf 'head' http://purl.obolibrary.org/obo/MONDO_0016343 unclassified cardiomyopathy 'unclassified cardiomyopathy' SubClassOf 'cardiomyopathy' http://purl.obolibrary.org/obo/UBERON_0008810 nasopalatine nerve 'nasopalatine nerve' SubClassOf 'nerve of head region' http://purl.obolibrary.org/obo/UBERON_0008828 presphenoid bone 'presphenoid bone' SubClassOf 'neurocranium bone' 'presphenoid bone' SubClassOf 'facial bone' 'presphenoid bone' SubClassOf 'endochondral bone' http://purl.obolibrary.org/obo/MONDO_0004379 female breast carcinoma 'female breast carcinoma' SubClassOf 'breast carcinoma' http://purl.obolibrary.org/obo/UBERON_0008823 neural tube derived brain 'neural tube derived brain' SubClassOf 'brain' http://purl.obolibrary.org/obo/MONDO_0004389 mite infestation 'mite infestation' SubClassOf 'parasitic ectoparasitic infectious disease' http://purl.obolibrary.org/obo/UBERON_0008839 palmar pad 'palmar pad' SubClassOf 'skin of palm of manus' 'palmar pad' SubClassOf 'metapodial pad' 'palmar pad' SubClassOf 'manual autopod pad' http://purl.obolibrary.org/obo/UBERON_0008838 metapodial pad 'metapodial pad' SubClassOf 'autopod pad' http://purl.obolibrary.org/obo/MONDO_0004380 dendritic cell sarcoma 'dendritic cell sarcoma' SubClassOf 'sarcoma' 'dendritic cell sarcoma' SubClassOf 'immune system cancer' 'dendritic cell sarcoma' SubClassOf 'leukocyte disease' 'dendritic cell sarcoma' SubClassOf 'Histiocytic and Dendritic Cell Neoplasm' http://purl.obolibrary.org/obo/MONDO_0043953 burkholderia infectious disease 'burkholderia infectious disease' SubClassOf 'gram-negative bacterial infections' http://purl.obolibrary.org/obo/UBERON_0008836 liver bud 'liver bud' SubClassOf 'epithelium of foregut-midgut junction' 'liver bud' SubClassOf 'epithelial sac' http://purl.obolibrary.org/obo/UBERON_0008835 hepatic diverticulum 'hepatic diverticulum' SubClassOf 'epithelium of foregut-midgut junction' 'hepatic diverticulum' SubClassOf 'epithelial sac' http://purl.obolibrary.org/obo/UBERON_0008834 prostomium 'prostomium' SubClassOf 'organismal segment' http://purl.obolibrary.org/obo/UBERON_0008833 great auricular nerve 'great auricular nerve' SubClassOf 'nerve innervating pinna' http://purl.obolibrary.org/obo/UBERON_0008840 plantar pad 'plantar pad' SubClassOf 'metapodial pad' 'plantar pad' SubClassOf 'pedal autopod pad' 'plantar pad' SubClassOf 'skin of sole of pes' http://purl.obolibrary.org/obo/MONDO_0016374 cranial neuralgia 'cranial neuralgia' SubClassOf 'acquired peripheral neuropathy' 'cranial neuralgia' SubClassOf 'cranial nerve neuropathy' 'cranial neuralgia' SubClassOf 'neuralgia' http://purl.obolibrary.org/obo/UBERON_0008848 cranial suspensory ligament 'cranial suspensory ligament' SubClassOf 'suspensory ligament' http://purl.obolibrary.org/obo/MONDO_0016375 acquired peripheral movement disorder 'acquired peripheral movement disorder' SubClassOf 'acquired peripheral neuropathy' http://purl.obolibrary.org/obo/UBERON_0008847 ovarian ligament 'ovarian ligament' SubClassOf 'nonskeletal ligament' 'suspensory ligament of ovary' DisjointWith 'ovarian ligament' http://purl.obolibrary.org/obo/UBERON_0008846 skeletal ligament 'nonskeletal ligament' DisjointWith 'skeletal ligament' 'skeletal ligament' SubClassOf 'ligament' http://purl.obolibrary.org/obo/UBERON_0008845 nonskeletal ligament 'nonskeletal ligament' DisjointWith 'skeletal ligament' 'nonskeletal ligament' SubClassOf 'ligament' http://purl.obolibrary.org/obo/UBERON_0008844 gubernaculum (female) 'gubernaculum (female)' SubClassOf 'gubernaculum (male or female)' http://purl.obolibrary.org/obo/UBERON_0008843 gubernaculum testis 'gubernaculum testis' SubClassOf 'gubernaculum (male or female)' http://purl.obolibrary.org/obo/UBERON_0008842 suspensory ligament of testis 'suspensory ligament of testis' SubClassOf 'suspensory ligament' http://purl.obolibrary.org/obo/UBERON_0008841 suspensory ligament 'suspensory ligament' SubClassOf 'nonskeletal ligament' http://purl.obolibrary.org/obo/MONDO_0016397 lysosomal disease with epilepsy 'lysosomal disease with epilepsy' SubClassOf 'Rare genetic neurological disorder' 'lysosomal disease with epilepsy' SubClassOf 'metabolic disease with epilepsy' 'lysosomal disease with epilepsy' SubClassOf 'Lysosomal disease' http://purl.obolibrary.org/obo/MONDO_0016398 peroxisomal disease with epilepsy 'peroxisomal disease with epilepsy' SubClassOf 'metabolic disease with epilepsy' http://purl.obolibrary.org/obo/MONDO_0016399 amino acid or protein metabolism disease with epilepsy 'amino acid or protein metabolism disease with epilepsy' SubClassOf 'metabolic disease with epilepsy' http://purl.obolibrary.org/obo/UBERON_0008807 coagulating gland 'coagulating gland' SubClassOf 'male accessory sex gland' http://purl.obolibrary.org/obo/UBERON_0008804 stylopharyngeus muscle 'stylopharyngeus muscle' SubClassOf 'branchial muscle' http://purl.obolibrary.org/obo/UBERON_0008803 skin of cheek 'skin of cheek' SubClassOf 'skin of face' http://purl.obolibrary.org/obo/UBERON_0008802 cheek pouch 'cheek pouch' SubClassOf 'skin of cheek' http://purl.obolibrary.org/obo/UBERON_0008801 parotid gland primordium 'parotid gland primordium' SubClassOf 'primordium' http://purl.obolibrary.org/obo/UBERON_0018228 extrahepatic branch of portal vein 'extrahepatic branch of portal vein' SubClassOf 'portal vein' http://purl.obolibrary.org/obo/UBERON_0018227 pulmonary lymphatic vessel 'pulmonary lymphatic vessel' SubClassOf 'respiratory system lymphatic vessel' http://purl.obolibrary.org/obo/UBERON_0006232 facio-acoustic VII-VIII preganglion complex 'facio-acoustic VII-VIII preganglion complex' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0008894 pharyngeal gill precursor 'pharyngeal gill precursor' SubClassOf 'primordium' http://purl.obolibrary.org/obo/UBERON_0006230 extrinsic ocular pre-muscle mass 'extrinsic ocular pre-muscle mass' SubClassOf 'head mesenchyme from mesoderm' 'extrinsic ocular pre-muscle mass' SubClassOf 'eye mesenchyme' http://purl.obolibrary.org/obo/UBERON_0006231 facial bone primordium 'facial bone primordium' SubClassOf 'embryonic structure' 'facial bone primordium' SubClassOf 'membrane bone' 'facial bone primordium' SubClassOf 'facial bone' http://purl.obolibrary.org/obo/UBERON_0006239 future central tendon 'future central tendon' SubClassOf 'presumptive structure' http://purl.obolibrary.org/obo/UBERON_0006236 tetrapod frontal bone primordium 'tetrapod frontal bone primordium' SubClassOf 'primordium' http://purl.obolibrary.org/obo/UBERON_0006243 glossopharyngeal IX preganglion 'glossopharyngeal IX preganglion' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0006244 hip joint primordium 'hip joint primordium' SubClassOf 'primordium' http://purl.obolibrary.org/obo/UBERON_0006242 gall bladder primordium 'gall bladder primordium' SubClassOf 'presumptive structure' 'gall bladder primordium' SubClassOf 'primordium' http://purl.obolibrary.org/obo/UBERON_0006247 iliac pre-cartilage condensation 'iliac pre-cartilage condensation' SubClassOf 'trunk mesenchyme' http://purl.obolibrary.org/obo/UBERON_0018243 thymic artery 'thymic artery' SubClassOf 'systemic artery' http://purl.obolibrary.org/obo/UBERON_0018240 panniculus carnosus muscle 'panniculus carnosus muscle' SubClassOf 'hypodermis skeletal muscle layer' http://purl.obolibrary.org/obo/UBERON_0018247 cervical thymic artery 'cervical thymic artery' SubClassOf 'thymic artery' http://purl.obolibrary.org/obo/UBERON_0018246 thyroid vein 'thyroid vein' SubClassOf 'vein' http://purl.obolibrary.org/obo/UBERON_0018249 superior superficial cervical thymic artery 'superior superficial cervical thymic artery' SubClassOf 'cervical thymic artery' http://purl.obolibrary.org/obo/UBERON_0018248 inferior superficial cervical thymic artery 'inferior superficial cervical thymic artery' SubClassOf 'cervical thymic artery' http://purl.obolibrary.org/obo/UBERON_0006255 ischial pre-cartilage condensation 'ischial pre-cartilage condensation' SubClassOf 'trunk mesenchyme' http://purl.obolibrary.org/obo/UBERON_0006252 intersubcardinal venous anastomosis 'intersubcardinal venous anastomosis' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0006250 infundibular recess of 3rd ventricle 'infundibular recess of 3rd ventricle' SubClassOf 'epithelial sac' 'infundibular recess of 3rd ventricle' SubClassOf 'embryonic structure' 'infundibular recess of 3rd ventricle' SubClassOf 'ecto-epithelium' 'infundibular recess of 3rd ventricle' SubClassOf 'meso-epithelium' http://purl.obolibrary.org/obo/UBERON_0006251 interparietal bone primordium 'interparietal bone primordium' SubClassOf 'primordium' http://purl.obolibrary.org/obo/UBERON_0006256 knee joint primordium 'knee joint primordium' SubClassOf 'primordium' 'knee joint primordium' SubClassOf 'presumptive structure' http://purl.obolibrary.org/obo/UBERON_0018232 axillary sweat gland 'axillary sweat gland' SubClassOf 'apocrine sweat gland' http://purl.obolibrary.org/obo/UBERON_0018231 labyrinthine artery 'labyrinthine artery' SubClassOf 'head blood vessel' 'labyrinthine artery' SubClassOf 'artery' http://purl.obolibrary.org/obo/UBERON_0018233 gland of Zeis 'gland of Zeis' SubClassOf 'sebaceous gland of eyelid' http://purl.obolibrary.org/obo/UBERON_0006266 nasolacrimal groove 'nasolacrimal groove' SubClassOf 'nose epithelium' 'nasolacrimal groove' SubClassOf 'unilaminar epithelium' http://purl.obolibrary.org/obo/UBERON_0006263 Meckel's cartilage pre-cartilage condensation 'Meckel's cartilage pre-cartilage condensation' SubClassOf 'presumptive structure' http://purl.obolibrary.org/obo/UBERON_0006260 lingual swellings 'lingual swellings' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0006267 notochordal plate 'notochordal plate' SubClassOf 'unilaminar epithelium' 'notochordal plate' SubClassOf 'ecto-epithelium' 'notochordal plate' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0008859 cardiac gastric gland 'cardiac gastric gland' SubClassOf 'gastric gland' 'cardiac gastric gland' SubClassOf 'mucous gland' http://purl.obolibrary.org/obo/UBERON_2000925 hypaxial region somite 10 'hypaxial region somite 10' SubClassOf 'hypaxial myotome region' http://purl.obolibrary.org/obo/UBERON_0008855 placenta metrial gland 'placenta metrial gland' SubClassOf 'female reproductive gland' http://purl.obolibrary.org/obo/UBERON_0008853 parietal yolk sac 'parietal yolk sac' SubClassOf 'yolk sac' http://purl.obolibrary.org/obo/UBERON_0008852 visceral yolk sac 'visceral yolk sac' SubClassOf 'yolk sac' http://purl.obolibrary.org/obo/UBERON_0006209 basioccipital cartilage element 'basioccipital cartilage element' SubClassOf 'cartilage element of chondrocranium' 'basioccipital cartilage element' SubClassOf 'head mesenchyme' http://purl.obolibrary.org/obo/UBERON_0006200 caudal humeral circumflex vein 'caudal humeral circumflex vein' SubClassOf 'vein' http://purl.obolibrary.org/obo/UBERON_0008861 pyloric gastric gland 'pyloric gastric gland' SubClassOf 'gastric gland' 'pyloric gastric gland' SubClassOf 'mucous gland' http://purl.obolibrary.org/obo/UBERON_0008860 intermediate gastric gland 'intermediate gastric gland' SubClassOf 'fundic gastric gland' http://purl.obolibrary.org/obo/UBERON_0006204 inguinal ligament 'inguinal ligament' SubClassOf 'ligament' http://purl.obolibrary.org/obo/UBERON_2000900 hypaxial region somite 4 'hypaxial region somite 4' SubClassOf 'hypaxial myotome region' http://purl.obolibrary.org/obo/UBERON_2000901 hypaxial region somite 7 'hypaxial region somite 7' SubClassOf 'hypaxial myotome region' http://purl.obolibrary.org/obo/UBERON_0006218 common atrial chamber 'common atrial chamber' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_2000902 hypural musculature 'hypural musculature' SubClassOf 'skeletal muscle organ' http://purl.obolibrary.org/obo/UBERON_0008879 ligament of pinna 'ligament of pinna' SubClassOf 'skeletal ligament' http://purl.obolibrary.org/obo/UBERON_0006214 carpus pre-cartilage condensation 'carpus pre-cartilage condensation' SubClassOf 'presumptive structure' http://purl.obolibrary.org/obo/UBERON_0008876 hypodermis skeletal muscle layer 'hypodermis skeletal muscle layer' SubClassOf 'skeletal muscle organ' http://purl.obolibrary.org/obo/UBERON_0006215 rhombic lip 'rhombic lip' SubClassOf 'presumptive structure' 'rhombic lip' SubClassOf 'primordium' http://purl.obolibrary.org/obo/UBERON_0006212 bulbo-ventricular groove 'bulbo-ventricular groove' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0006213 carpus cartilage element 'carpus cartilage element' SubClassOf 'presumptive structure' http://purl.obolibrary.org/obo/UBERON_0008884 left putamen 'left putamen' SubClassOf 'putamen' http://purl.obolibrary.org/obo/UBERON_0008880 annelid pygidium 'annelid pygidium' SubClassOf 'organismal segment' http://purl.obolibrary.org/obo/UBERON_0006227 ethmoid bone primordium 'ethmoid bone primordium' SubClassOf 'primordium' http://purl.obolibrary.org/obo/UBERON_0006228 exoccipital pre-cartilage condensation 'exoccipital pre-cartilage condensation' SubClassOf 'head mesenchyme' http://purl.obolibrary.org/obo/UBERON_0008889 uterine venous plexus 'uterine venous plexus' SubClassOf 'venous plexus' http://purl.obolibrary.org/obo/UBERON_0008888 vesical venous plexus 'vesical venous plexus' SubClassOf 'venous plexus' 'vesical venous plexus' SubClassOf 'vasculature of trunk' http://purl.obolibrary.org/obo/UBERON_0006226 endolymphatic appendage 'endolymphatic appendage' SubClassOf 'presumptive structure' http://purl.obolibrary.org/obo/UBERON_0008887 rectal venous plexus 'rectal venous plexus' SubClassOf 'venous plexus' http://purl.obolibrary.org/obo/UBERON_0006223 dorsal meso-oesophagus 'dorsal meso-oesophagus' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0008886 pulmonary vascular system 'pulmonary vascular system' SubClassOf 'anatomical system' http://purl.obolibrary.org/obo/UBERON_0006224 elbow joint primordium 'elbow joint primordium' SubClassOf 'primordium' http://purl.obolibrary.org/obo/UBERON_0008885 right putamen 'right putamen' SubClassOf 'putamen' http://purl.obolibrary.org/obo/UBERON_2000968 hypaxial region somite 21 'hypaxial region somite 21' SubClassOf 'hypaxial myotome region' http://purl.obolibrary.org/obo/UBERON_0018299 mandibular symphyseal tooth 'mandibular symphyseal tooth' SubClassOf 'tooth of lower jaw' http://purl.obolibrary.org/obo/UBERON_0018294 premolar 1 'premolar 1' SubClassOf 'premolar tooth' http://purl.obolibrary.org/obo/UBERON_0018296 replacement tooth 'replacement tooth' SubClassOf 'tooth' http://purl.obolibrary.org/obo/UBERON_2000957 hypaxial region somite 19 'hypaxial region somite 19' SubClassOf 'hypaxial myotome region' http://purl.obolibrary.org/obo/UBERON_2000946 hypaxial region somite 16 'hypaxial region somite 16' SubClassOf 'hypaxial myotome region' http://purl.obolibrary.org/obo/UBERON_2000947 dorsal fin proximal radial bone 'dorsal fin proximal radial bone' SubClassOf 'dorsal fin radial bone' http://purl.obolibrary.org/obo/UBERON_2000936 dorsal fin distal radial bone 'dorsal fin distal radial bone' SubClassOf 'dorsal fin radial bone' http://purl.obolibrary.org/obo/UBERON_2000937 hypaxial region somite 13 'hypaxial region somite 13' SubClassOf 'hypaxial myotome region' http://purl.obolibrary.org/obo/UBERON_0018264 dorsal lateral ganglionic eminence 'dorsal lateral ganglionic eminence' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0018266 third phalanx 'third phalanx' SubClassOf 'phalanx' http://purl.obolibrary.org/obo/UBERON_0006276 perioptic mesenchyme 'perioptic mesenchyme' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0006277 pleuropericardial canals 'pleuropericardial canals' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0006274 tetrapod parietal bone primordium 'tetrapod parietal bone primordium' SubClassOf 'presumptive structure' 'tetrapod parietal bone primordium' SubClassOf 'primordium' http://purl.obolibrary.org/obo/UBERON_0006275 pericardio-peritoneal canal 'pericardio-peritoneal canal' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0006278 pleuropericardial folds 'pleuropericardial folds' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0006279 pleuroperitoneal canal 'pleuroperitoneal canal' SubClassOf 'epithelial tube' http://purl.obolibrary.org/obo/UBERON_0018253 external pudendal vein 'external pudendal vein' SubClassOf 'pudendal vein' http://purl.obolibrary.org/obo/UBERON_0018256 lacrimal vein 'lacrimal vein' SubClassOf 'vein' http://purl.obolibrary.org/obo/UBERON_0018255 jejunal artery 'jejunal artery' SubClassOf 'systemic artery' http://purl.obolibrary.org/obo/UBERON_0018250 middle thyroid artery 'middle thyroid artery' SubClassOf 'thyroid artery' 'middle thyroid artery' SubClassOf 'branch of external carotid artery' http://purl.obolibrary.org/obo/UBERON_0018252 internal pudendal vein 'internal pudendal vein' SubClassOf 'pudendal vein' http://purl.obolibrary.org/obo/UBERON_0018251 meningeal vein 'meningeal vein' SubClassOf 'vein' http://purl.obolibrary.org/obo/UBERON_2000991 epaxial region somite 10 'epaxial region somite 10' SubClassOf 'epaxial myotome region' http://purl.obolibrary.org/obo/UBERON_0006285 pubic pre-cartilage condensation 'pubic pre-cartilage condensation' SubClassOf 'trunk mesenchyme' http://purl.obolibrary.org/obo/UBERON_0006283 future cardiac ventricle 'future cardiac ventricle' SubClassOf 'presumptive structure' http://purl.obolibrary.org/obo/UBERON_0006282 primary head vein 'primary head vein' SubClassOf 'craniocervical region vein' http://purl.obolibrary.org/obo/UBERON_0018283 lower pharyngobranchial toothplate 'lower pharyngobranchial toothplate' SubClassOf 'pharyngeal tooth plate' http://purl.obolibrary.org/obo/UBERON_0018282 lower molar 3 'lower molar 3' SubClassOf 'molar tooth 3' 'lower molar 3' SubClassOf 'lower jaw molar' http://purl.obolibrary.org/obo/UBERON_0018285 lower premolar 2 'lower premolar 2' SubClassOf 'lower premolar tooth' 'lower premolar 2' SubClassOf 'premolar 2' http://purl.obolibrary.org/obo/UBERON_0018284 lower premolar 1 'lower premolar 1' SubClassOf 'lower premolar tooth' 'lower premolar 1' SubClassOf 'premolar 1' http://purl.obolibrary.org/obo/UBERON_2000980 somite 25 'somite 25' SubClassOf 'somite' http://purl.obolibrary.org/obo/UBERON_2000981 somite 29 'somite 29' SubClassOf 'somite' http://purl.obolibrary.org/obo/UBERON_0006298 submandibular gland primordium 'submandibular gland primordium' SubClassOf 'salivary gland primordium' http://purl.obolibrary.org/obo/UBERON_2000982 somite 6 'somite 6' SubClassOf 'somite' http://purl.obolibrary.org/obo/UBERON_2000983 somite 9 'somite 9' SubClassOf 'somite' http://purl.obolibrary.org/obo/UBERON_0006296 subcardinal vein 'subcardinal vein' SubClassOf 'vein' http://purl.obolibrary.org/obo/UBERON_0006297 sublingual gland primordium 'sublingual gland primordium' SubClassOf 'salivary gland primordium' http://purl.obolibrary.org/obo/UBERON_2000986 hypaxial region somite 27 'hypaxial region somite 27' SubClassOf 'hypaxial myotome region' http://purl.obolibrary.org/obo/UBERON_0006295 sternebral bone pre-cartilage condensation 'sternebral bone pre-cartilage condensation' SubClassOf 'trunk mesenchyme' http://purl.obolibrary.org/obo/UBERON_2000987 hypaxial region somite 3 'hypaxial region somite 3' SubClassOf 'hypaxial myotome region' http://purl.obolibrary.org/obo/UBERON_2000988 hypaxial region somite 5 'hypaxial region somite 5' SubClassOf 'hypaxial myotome region' http://purl.obolibrary.org/obo/UBERON_0006293 spleen primordium 'spleen primordium' SubClassOf 'embryonic structure' 'spleen primordium' SubClassOf 'primordium' http://purl.obolibrary.org/obo/UBERON_2000989 hypaxial region somite 8 'hypaxial region somite 8' SubClassOf 'hypaxial myotome region' http://purl.obolibrary.org/obo/UBERON_0018277 calcareous egg tooth 'calcareous egg tooth' SubClassOf 'tooth' http://purl.obolibrary.org/obo/UBERON_2000974 somite 10 'somite 10' SubClassOf 'somite' http://purl.obolibrary.org/obo/UBERON_2000976 somite 16 'somite 16' SubClassOf 'somite' http://purl.obolibrary.org/obo/UBERON_2000977 somite 19 'somite 19' SubClassOf 'somite' http://purl.obolibrary.org/obo/UBERON_2000978 somite 22 'somite 22' SubClassOf 'somite' http://purl.obolibrary.org/obo/UBERON_2000979 hypaxial region somite 24 'hypaxial region somite 24' SubClassOf 'hypaxial myotome region' http://purl.obolibrary.org/obo/UBERON_0018281 lower deciduous premolar 5 'lower deciduous premolar 5' SubClassOf 'deciduous premolar 5' 'lower deciduous premolar 5' SubClassOf 'lower primary premolar tooth' http://purl.obolibrary.org/obo/MONDO_0018814 non-severe combined immunodeficiency 'non-severe combined immunodeficiency' DisjointWith 'Severe combined immunodeficiency' 'non-severe combined immunodeficiency' SubClassOf 'Combined T and B cell immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0018829 familial schizencephaly 'familial schizencephaly' SubClassOf 'Encephaloclastic disorder' 'familial schizencephaly' EquivalentTo 'Schizencephaly' and ('has modifier' some 'inherited') 'familial schizencephaly' SubClassOf 'Cerebral malformation with epilepsy' 'familial schizencephaly' SubClassOf 'Schizencephaly' 'familial schizencephaly' SubClassOf 'COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy' http://purl.obolibrary.org/obo/MONDO_0018827 familial chilblain lupus 'familial chilblain lupus' SubClassOf 'Moyamoya syndrome' 'familial chilblain lupus' SubClassOf 'Chilblain lupus' 'familial chilblain lupus' SubClassOf 'systemic autoimmune disease' 'familial chilblain lupus' EquivalentTo 'Chilblain lupus' and ('has modifier' some 'inherited') 'familial chilblain lupus' SubClassOf 'type 1 interferonopathy' 'familial chilblain lupus' SubClassOf 'autoimmune disease of the nervous system' 'familial chilblain lupus' SubClassOf 'genetic skin disease' http://purl.obolibrary.org/obo/MONDO_0018839 acquired schizencephaly 'acquired schizencephaly' SubClassOf 'Schizencephaly' 'acquired schizencephaly' SubClassOf 'familial schizencephaly' 'acquired schizencephaly' EquivalentTo 'Schizencephaly' and ('has modifier' some 'acquired') 'acquired schizencephaly' SubClassOf 'has modifier' some 'acquired' http://purl.obolibrary.org/obo/UBERON_2000891 hypaxial region somite 1 'hypaxial region somite 1' SubClassOf 'hypaxial myotome region' http://purl.obolibrary.org/obo/UBERON_2000892 hypaxial region somite 12 'hypaxial region somite 12' SubClassOf 'hypaxial myotome region' http://purl.obolibrary.org/obo/UBERON_2000894 hypaxial region somite 15 'hypaxial region somite 15' SubClassOf 'hypaxial myotome region' http://purl.obolibrary.org/obo/UBERON_2000895 hypaxial region somite 18 'hypaxial region somite 18' SubClassOf 'hypaxial myotome region' http://purl.obolibrary.org/obo/UBERON_2000896 hypaxial region somite 20 'hypaxial region somite 20' SubClassOf 'hypaxial myotome region' http://purl.obolibrary.org/obo/MONDO_0018837 postinfectious vasculitis 'postinfectious vasculitis' SubClassOf 'post-infectious disorder' 'postinfectious vasculitis' SubClassOf 'secondary vasculitis' 'postinfectious vasculitis' EquivalentTo 'vasculitis' and ('disease arises from feature' some 'infectious disease') http://purl.obolibrary.org/obo/UBERON_2000897 hypaxial region somite 23 'hypaxial region somite 23' SubClassOf 'hypaxial myotome region' http://purl.obolibrary.org/obo/UBERON_2000898 hypaxial region somite 26 'hypaxial region somite 26' SubClassOf 'hypaxial myotome region' http://purl.obolibrary.org/obo/MONDO_0018831 HTRA1-related cerebral small vessel disease 'HTRA1-related cerebral small vessel disease' SubClassOf 'cerebral small vessel disease' http://purl.obolibrary.org/obo/UBERON_2000899 hypaxial region somite 29 'hypaxial region somite 29' SubClassOf 'hypaxial myotome region' http://purl.obolibrary.org/obo/MONDO_0004202 adrenal medulla carcinoma 'adrenal medulla carcinoma' SubClassOf 'adrenal medulla cancer' 'adrenal medulla carcinoma' SubClassOf 'adrenal carcinoma' http://purl.obolibrary.org/obo/MONDO_0018859 Leigh disease 'Leigh disease' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' 'Leigh disease' SubClassOf 'Unclassified primitive or secondary maculopathy' 'Leigh disease' SubClassOf 'Syndrome with a symptomatic strabismus' 'Leigh disease' SubClassOf 'Supranuclear oculomotor palsy' 'Leigh disease' SubClassOf 'Neurometabolic disease' 'Leigh disease' SubClassOf 'Mitochondrial disease with eye involvement' 'Leigh disease' SubClassOf 'Mitochondrial disease with peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0100070 neuroendocrine disease 'neuroendocrine disease' SubClassOf 'nervous system disease' 'neuroendocrine disease' SubClassOf 'endocrine system disease' http://purl.obolibrary.org/obo/MONDO_0100071 cardiocutaneous syndrome 'cardiocutaneous syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0004222 ovarian clear cell cystadenocarcinoma 'ovarian clear cell cystadenocarcinoma' SubClassOf 'ovarian cystadenocarcinoma' 'ovarian clear cell cystadenocarcinoma' SubClassOf 'ovarian clear cell adenocarcinoma' 'ovarian clear cell cystadenocarcinoma' EquivalentTo 'ovarian clear cell adenocarcinoma' and 'ovarian cystadenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0004245 ependymal tumor of brain 'ependymal tumor of brain' SubClassOf 'ependymal neoplasm' 'ependymal tumor of brain' SubClassOf 'brain glioma' http://purl.obolibrary.org/obo/MONDO_0004247 peptic ulcer disease 'peptic ulcer disease' SubClassOf 'ulcer disease' 'peptic ulcer disease' SubClassOf 'digestive system disease' http://purl.obolibrary.org/obo/MONDO_0016226 specific language disorder 'specific language disorder' SubClassOf 'has modifier' some 'rare' 'specific language disorder' SubClassOf 'nervous system disease' http://purl.obolibrary.org/obo/MONDO_0016223 infantile hemangioma of rare localization 'infantile hemangioma of rare localization' SubClassOf 'has modifier' some 'rare' 'infantile hemangioma of rare localization' SubClassOf 'hemangioma' http://purl.obolibrary.org/obo/MONDO_0018880 rare teratologic disease 'rare teratologic disease' SubClassOf 'developmental defect during embryogenesis' http://purl.obolibrary.org/obo/MONDO_0100064 tyrosine hydroxylase deficiency 'tyrosine hydroxylase deficiency' SubClassOf 'Disorder of neurotransmitter metabolism and transport' 'tyrosine hydroxylase deficiency' SubClassOf 'Neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0004251 small intestine neoplasm 'small intestine neoplasm' SubClassOf 'small intestine disease' 'small intestine neoplasm' SubClassOf 'intestinal neoplasm' http://purl.obolibrary.org/obo/MONDO_0018898 primary cutaneous lymphoma 'primary cutaneous lymphoma' SubClassOf 'primary organ-specific lymphoma' 'primary cutaneous lymphoma' SubClassOf 'skin cancer' http://purl.obolibrary.org/obo/MONDO_0016235 complex vascular malformation with associated anomalies 'complex vascular malformation with associated anomalies' SubClassOf 'vascular anomaly' http://purl.obolibrary.org/obo/MONDO_0016238 solitary fibrous tumor 'solitary fibrous tumor' SubClassOf 'Fibroblastic Neoplasm' http://purl.obolibrary.org/obo/MONDO_0016231 capillary malformation 'capillary malformation' SubClassOf 'simple vascular malformation' http://purl.obolibrary.org/obo/MONDO_0016232 rare venous malformation 'rare venous malformation' SubClassOf 'simple vascular malformation' http://purl.obolibrary.org/obo/MONDO_0016233 rare lymphatic system malformation 'rare lymphatic system malformation' SubClassOf 'simple vascular malformation' http://purl.obolibrary.org/obo/MONDO_0016230 simple vascular malformation 'simple vascular malformation' SubClassOf 'vascular anomaly' http://purl.obolibrary.org/obo/MONDO_0100030 adolescent/adult-onset epilepsy syndrome 'adolescent/adult-onset epilepsy syndrome' SubClassOf 'Epilepsy syndrome' http://purl.obolibrary.org/obo/MONDO_0100033 metabolic epilepsy 'metabolic epilepsy' SubClassOf 'epilepsy' http://purl.obolibrary.org/obo/MONDO_0100035 structural epilepsy 'structural epilepsy' SubClassOf 'epilepsy' http://purl.obolibrary.org/obo/MONDO_0100036 variable age onset epilepsy 'variable age onset epilepsy' SubClassOf 'epilepsy' http://purl.obolibrary.org/obo/MONDO_0100038 complex neurodevelopmental disorder 'complex neurodevelopmental disorder' SubClassOf 'nervous system disease' http://purl.obolibrary.org/obo/UBERON_0008713 pectoral girdle and thoracic body wall skeletal muscle 'pectoral girdle and thoracic body wall skeletal muscle' SubClassOf 'skeletal muscle tissue' http://purl.obolibrary.org/obo/UBERON_0008712 stylohyoid muscle 'stylohyoid muscle' SubClassOf 'suprahyoid muscle' http://purl.obolibrary.org/obo/MONDO_0043839 ulcer disease 'ulcer disease' SubClassOf 'injury' http://purl.obolibrary.org/obo/MONDO_0028226 autosomal recessive severe congenital neutropenia 'autosomal recessive severe congenital neutropenia' SubClassOf 'autosomal recessive disease' 'autosomal recessive severe congenital neutropenia' SubClassOf 'Severe congenital neutropenia' http://purl.obolibrary.org/obo/MONDO_0100014 autoimmune retinopathy 'autoimmune retinopathy' SubClassOf 'autoimmune disease of the nervous system' 'autoimmune retinopathy' SubClassOf 'retinopathy' 'autoimmune retinopathy' SubClassOf 'autoimmune disease of ear, nose and throat' http://purl.obolibrary.org/obo/MONDO_0100016 early-onset generalized dystonia 'early-onset generalized dystonia' SubClassOf 'Generalized isolated dystonia' http://purl.obolibrary.org/obo/CHEBI_17822 serine 'serine' SubClassOf 'amino acid' http://purl.obolibrary.org/obo/MONDO_0100022 neonatal/infantile epilepsy syndrome 'neonatal/infantile epilepsy syndrome' SubClassOf 'Epilepsy syndrome' http://purl.obolibrary.org/obo/MONDO_0016275 adenocarcinoma of cervix uteri 'adenocarcinoma of cervix uteri' SubClassOf 'cervical carcinoma' 'adenocarcinoma of cervix uteri' SubClassOf 'has modifier' some 'rare' 'adenocarcinoma of cervix uteri' SubClassOf 'adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0043878 hereditary optic atrophy 'hereditary optic atrophy' EquivalentTo 'optic atrophy' and ('has modifier' some 'inherited') 'hereditary optic atrophy' SubClassOf 'primary optic atrophy' 'hereditary optic atrophy' SubClassOf 'Genetic neurodegenerative disease' http://purl.obolibrary.org/obo/MONDO_0016286 adenoid cystic carcinoma of the cervix uteri 'adenoid cystic carcinoma of the cervix uteri' SubClassOf 'adenocarcinoma of cervix uteri' 'adenoid cystic carcinoma of the cervix uteri' SubClassOf 'adenoid cystic carcinoma' http://purl.obolibrary.org/obo/MONDO_0100000 MED12-related intellectual disability syndrome 'MED12-related intellectual disability syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0043885 eye infectious disease 'eye infectious disease' SubClassOf 'infectious disease of the nervous system' 'eye infectious disease' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/UBERON_0018102 distal mesopodial bone 'distal mesopodial bone' SubClassOf 'mesopodium bone' http://purl.obolibrary.org/obo/UBERON_0008779 subclavius 'subclavius' SubClassOf 'pectoral muscle' http://purl.obolibrary.org/obo/UBERON_0008778 epaxial musculature 'epaxial musculature' SubClassOf 'musculature of trunk' http://purl.obolibrary.org/obo/UBERON_0008777 hypaxial musculature 'hypaxial musculature' SubClassOf 'musculature of trunk' http://purl.obolibrary.org/obo/UBERON_0008776 inner cell mass derived hypoblast 'inner cell mass derived hypoblast' SubClassOf 'hypoblast (generic)' http://purl.obolibrary.org/obo/UBERON_0008783 dorsal venous arch 'dorsal venous arch' SubClassOf 'vein' http://purl.obolibrary.org/obo/UBERON_0008781 blastodisc derived epiblast 'blastodisc derived epiblast' SubClassOf 'epiblast (generic)' http://purl.obolibrary.org/obo/UBERON_0008780 inner cell mass derived epiblast 'inner cell mass derived epiblast' SubClassOf 'epiblast (generic)' http://purl.obolibrary.org/obo/UBERON_0006139 plantar digital vein 'plantar digital vein' SubClassOf 'hindlimb digital vein' http://purl.obolibrary.org/obo/UBERON_0006137 proper palmar digital artery 'proper palmar digital artery' SubClassOf 'palmar digital artery' http://purl.obolibrary.org/obo/UBERON_0006138 plantar digital artery 'plantar digital artery' SubClassOf 'hindlimb digital artery' http://purl.obolibrary.org/obo/UBERON_0018112 rectum smooth muscle tissue 'rectum smooth muscle tissue' SubClassOf 'large intestine smooth muscle' 'rectum smooth muscle tissue' SubClassOf 'anal region smooth muscle' http://purl.obolibrary.org/obo/MONDO_0041261 disorder of acid-base balance 'disorder of acid-base balance' SubClassOf 'metabolic disease' 'disorder of acid-base balance' SubClassOf 'nutritional or metabolic disease' http://purl.obolibrary.org/obo/UBERON_0006144 medial plantar digital vein 'medial plantar digital vein' SubClassOf 'plantar digital vein' http://purl.obolibrary.org/obo/UBERON_0006145 dorsal digital artery of pes 'dorsal digital artery of pes' SubClassOf 'hindlimb digital artery' 'dorsal digital artery of pes' SubClassOf 'dorsal digital artery' http://purl.obolibrary.org/obo/UBERON_0006142 common plantar digital vein 'common plantar digital vein' SubClassOf 'plantar digital vein' http://purl.obolibrary.org/obo/UBERON_0006143 proper plantar digital vein 'proper plantar digital vein' SubClassOf 'plantar digital vein' http://purl.obolibrary.org/obo/UBERON_0006140 palmar digital vein 'palmar digital vein' SubClassOf 'forelimb digital vein' http://purl.obolibrary.org/obo/UBERON_0006141 palmar digital artery 'palmar digital artery' SubClassOf 'forelimb digital artery' http://purl.obolibrary.org/obo/UBERON_0006146 dorsal digital artery of manus 'dorsal digital artery of manus' SubClassOf 'forelimb digital artery' 'dorsal digital artery of manus' SubClassOf 'dorsal digital artery' http://purl.obolibrary.org/obo/UBERON_0006199 posterior auricular vein 'anterior auricular vein' DisjointWith 'posterior auricular vein' 'posterior auricular vein' SubClassOf 'auricular vein' http://purl.obolibrary.org/obo/UBERON_0006197 auricular vein 'auricular vein' SubClassOf 'craniocervical region vein' 'auricular vein' SubClassOf 'neck blood vessel' 'auricular vein' SubClassOf 'head blood vessel' http://purl.obolibrary.org/obo/UBERON_0006198 dorsal intercostal artery 'dorsal intercostal artery' SubClassOf 'intercostal artery' http://purl.obolibrary.org/obo/UBERON_2000820 presumptive neuron neural tube 'presumptive neuron neural tube' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0018144 cervical rib 'cervical rib' SubClassOf 'neck bone' 'cervical rib' SubClassOf 'rib' http://purl.obolibrary.org/obo/UBERON_0018145 lumbar rib 'lumbar rib' SubClassOf 'rib' http://purl.obolibrary.org/obo/UBERON_0018148 ampullary gland secretion 'ampullary gland secretion' SubClassOf 'seminal fluid' http://purl.obolibrary.org/obo/UBERON_0018132 tail fat pad 'tail fat pad' SubClassOf 'fat pad' http://purl.obolibrary.org/obo/UBERON_0018134 rugal fold of scrotum 'rugal fold of scrotum' SubClassOf 'scrotum skin' http://purl.obolibrary.org/obo/UBERON_0018131 periovarian fat pad 'periovarian fat pad' SubClassOf 'gonadal fat pad' http://purl.obolibrary.org/obo/UBERON_2000870 epaxial region somite 26 'epaxial region somite 26' SubClassOf 'epaxial myotome region' http://purl.obolibrary.org/obo/UBERON_0006166 lateral dorsal digital artery for digit 5 'lateral dorsal digital artery for digit 5' SubClassOf 'dorsal digital artery of manus' http://purl.obolibrary.org/obo/UBERON_2000872 epaxial region somite 29 'epaxial region somite 29' SubClassOf 'epaxial myotome region' http://purl.obolibrary.org/obo/UBERON_0006167 forelimb proper dorsal digital arteries 'forelimb proper dorsal digital arteries' SubClassOf 'dorsal digital artery of manus' http://purl.obolibrary.org/obo/UBERON_2000873 epaxial region somite 4 'epaxial region somite 4' SubClassOf 'epaxial myotome region' http://purl.obolibrary.org/obo/UBERON_0006164 forelimb common dorsal digital arteries 'forelimb common dorsal digital arteries' SubClassOf 'dorsal digital artery of manus' http://purl.obolibrary.org/obo/UBERON_2000874 epaxial region somite 7 'epaxial region somite 7' SubClassOf 'epaxial myotome region' http://purl.obolibrary.org/obo/UBERON_0006165 median dorsal digital artery for digit 1 'median dorsal digital artery for digit 1' SubClassOf 'dorsal digital artery of manus' http://purl.obolibrary.org/obo/UBERON_0006163 dorsal digital artery 'dorsal digital artery' SubClassOf 'digital artery' http://purl.obolibrary.org/obo/UBERON_0006168 hindlimb common dorsal digital arteries 'hindlimb common dorsal digital arteries' SubClassOf 'dorsal digital artery of pes' http://purl.obolibrary.org/obo/UBERON_0006169 hindlimb proper dorsal digital arteries 'hindlimb proper dorsal digital arteries' SubClassOf 'dorsal digital artery of pes' http://purl.obolibrary.org/obo/UBERON_0018161 annular ligament of stapes 'annular ligament of stapes' SubClassOf 'nonskeletal ligament' http://purl.obolibrary.org/obo/UBERON_0006175 pronephric distal tubule 'pronephric distal tubule' SubClassOf 'pronephric nephron tubule' 'pronephric distal tubule' SubClassOf 'distal tubule' http://purl.obolibrary.org/obo/UBERON_2000864 epaxial region somite 1 'epaxial region somite 1' SubClassOf 'epaxial myotome region' http://purl.obolibrary.org/obo/UBERON_0006173 pronephric proximal tubule 'pronephric proximal tubule' SubClassOf 'pronephric nephron tubule' 'pronephric proximal tubule' SubClassOf 'proximal tubule' http://purl.obolibrary.org/obo/UBERON_2000865 epaxial region somite 12 'epaxial region somite 12' SubClassOf 'epaxial myotome region' http://purl.obolibrary.org/obo/UBERON_2000866 epaxial region somite 15 'epaxial region somite 15' SubClassOf 'epaxial myotome region' http://purl.obolibrary.org/obo/UBERON_2000867 epaxial region somite 18 'epaxial region somite 18' SubClassOf 'epaxial myotome region' http://purl.obolibrary.org/obo/UBERON_2000868 epaxial region somite 20 'epaxial region somite 20' SubClassOf 'epaxial myotome region' http://purl.obolibrary.org/obo/UBERON_2000869 epaxial region somite 23 'epaxial region somite 23' SubClassOf 'epaxial myotome region' http://purl.obolibrary.org/obo/UBERON_0018155 posterior incudal ligament 'posterior incudal ligament' SubClassOf 'ligament of middle ear' 'posterior incudal ligament' SubClassOf 'suspensory ligament' http://purl.obolibrary.org/obo/UBERON_0018154 ligament of middle ear 'ligament of middle ear' SubClassOf 'ligament' http://purl.obolibrary.org/obo/UBERON_0018157 lateral malleal ligament 'lateral malleal ligament' SubClassOf 'malleal ligament' http://purl.obolibrary.org/obo/UBERON_0018156 malleal ligament 'malleal ligament' SubClassOf 'skeletal ligament' 'malleal ligament' SubClassOf 'ligament of middle ear' http://purl.obolibrary.org/obo/UBERON_0018151 skin of upper lip 'skin of upper lip' SubClassOf 'skin of lip' 'skin of upper lip' SubClassOf 'skin of face' http://purl.obolibrary.org/obo/UBERON_0018150 skin of lower lip 'skin of lower lip' SubClassOf 'skin of lip' http://purl.obolibrary.org/obo/UBERON_0006192 mesonephric proximal tubule 'mesonephric proximal tubule' SubClassOf 'proximal tubule' 'mesonephric proximal tubule' SubClassOf 'mesonephric nephron epithelium' 'mesonephric proximal tubule' SubClassOf 'mesonephric tubule' http://purl.obolibrary.org/obo/UBERON_0006190 mesonephric distal tubule 'mesonephric distal tubule' SubClassOf 'distal tubule' 'mesonephric distal tubule' SubClassOf 'mesonephric tubule' 'mesonephric distal tubule' SubClassOf 'mesonephric nephron epithelium' http://purl.obolibrary.org/obo/UBERON_0018159 anterior malleal ligament 'anterior malleal ligament' SubClassOf 'malleal ligament' http://purl.obolibrary.org/obo/UBERON_0018158 superior malleal ligament 'superior malleal ligament' SubClassOf 'malleal ligament' http://purl.obolibrary.org/obo/MONDO_0018918 carcinoma of gallbladder and extrahepatic biliary tract 'carcinoma of gallbladder and extrahepatic biliary tract' SubClassOf 'rare tumor of gallbladder and extrahepatic biliary tract' http://purl.obolibrary.org/obo/UBERON_0006189 mesonephric connecting tubule 'mesonephric connecting tubule' SubClassOf 'mesonephric tubule' 'mesonephric connecting tubule' SubClassOf 'mesonephric nephron epithelium' 'mesonephric connecting tubule' SubClassOf 'renal connecting tubule' http://purl.obolibrary.org/obo/UBERON_2000852 somite 15 'somite 15' SubClassOf 'somite' http://purl.obolibrary.org/obo/UBERON_2000853 somite 18 'somite 18' SubClassOf 'somite' http://purl.obolibrary.org/obo/UBERON_2000854 somite 21 'somite 21' SubClassOf 'somite' http://purl.obolibrary.org/obo/UBERON_2000855 somite 24 'somite 24' SubClassOf 'somite' http://purl.obolibrary.org/obo/UBERON_2000856 somite 28 'somite 28' SubClassOf 'somite' http://purl.obolibrary.org/obo/UBERON_0006183 mesonephric glomerular capillary 'mesonephric glomerular capillary' SubClassOf 'glomerular capillary' http://purl.obolibrary.org/obo/UBERON_2000858 somite 8 'somite 8' SubClassOf 'somite' http://purl.obolibrary.org/obo/UBERON_2000859 specialized hemal arch and spine 'specialized hemal arch and spine' SubClassOf 'fin bone' 'specialized hemal arch and spine' SubClassOf 'endochondral bone' http://purl.obolibrary.org/obo/UBERON_2000321 caudal levator 'caudal levator' SubClassOf 'branchial muscle' http://purl.obolibrary.org/obo/MONDO_0036591 adrenal cortex neoplasm 'adrenal cortex neoplasm' SubClassOf 'adrenal cortex disease' 'adrenal cortex neoplasm' SubClassOf 'adrenal gland neoplasm' http://purl.obolibrary.org/obo/UBERON_2000311 adductor mandibulae complex 'adductor mandibulae complex' SubClassOf 'adductor muscle' 'adductor mandibulae complex' SubClassOf 'craniocervical muscle' http://purl.obolibrary.org/obo/UBERON_2000313 anal inclinator 'anal inclinator' SubClassOf 'inclinator muscle' http://purl.obolibrary.org/obo/UBERON_2000300 ventral hypohyal bone 'ventral hypohyal bone' SubClassOf 'endochondral bone' http://purl.obolibrary.org/obo/UBERON_0006829 remnant of left anterior vena cava 'remnant of left anterior vena cava' SubClassOf 'heart blood vessel' 'remnant of left anterior vena cava' SubClassOf 'thoracic vein' http://purl.obolibrary.org/obo/UBERON_2000362 hypaxialis 'hypaxialis' SubClassOf 'skeletal muscle of trunk' http://purl.obolibrary.org/obo/UBERON_2000363 hypobranchial bone 'hypobranchial bone' SubClassOf 'endochondral bone' http://purl.obolibrary.org/obo/UBERON_2000364 hypural 'hypural' SubClassOf 'fin bone' 'hypural' SubClassOf 'hemal spine' http://purl.obolibrary.org/obo/UBERON_2000350 epipleural 'epipleural' SubClassOf 'intermuscular bone' http://purl.obolibrary.org/obo/UBERON_2000356 gill raker 'gill raker' SubClassOf 'dermal bone' http://purl.obolibrary.org/obo/UBERON_2000341 dorsal flexor 'dorsal flexor' SubClassOf 'flexor muscle' http://purl.obolibrary.org/obo/UBERON_2000342 dorsal inclinator muscle 'dorsal inclinator muscle' SubClassOf 'inclinator muscle' http://purl.obolibrary.org/obo/UBERON_2000348 exoccipital posteroventral region 'exoccipital posteroventral region' SubClassOf 'endochondral bone' 'exoccipital posteroventral region' SubClassOf 'neurocranium bone' http://purl.obolibrary.org/obo/UBERON_2000349 epaxialis 'epaxialis' SubClassOf 'skeletal muscle of trunk' http://purl.obolibrary.org/obo/UBERON_2000336 preopercle vertical limb 'preopercle vertical limb' SubClassOf 'dermal bone' http://purl.obolibrary.org/obo/UBERON_2000337 basioccipital posterodorsal region 'basioccipital posterodorsal region' SubClassOf 'neurocranium bone' 'basioccipital posterodorsal region' SubClassOf 'endochondral bone' http://purl.obolibrary.org/obo/UBERON_0004219 urethra smooth muscle layer 'urethra smooth muscle layer' SubClassOf 'smooth muscle tissue' http://purl.obolibrary.org/obo/UBERON_0004218 lower leg nerve 'lower leg nerve' SubClassOf 'leg nerve' http://purl.obolibrary.org/obo/UBERON_0006871 embryonic footplate 'embryonic footplate' SubClassOf 'embryonic autopod plate' http://purl.obolibrary.org/obo/UBERON_0004215 back nerve 'back nerve' SubClassOf 'nerve' http://purl.obolibrary.org/obo/UBERON_0004214 upper leg nerve 'upper leg nerve' SubClassOf 'leg nerve' http://purl.obolibrary.org/obo/UBERON_0006876 vasculature of organ 'vasculature of organ' SubClassOf 'vasculature' http://purl.obolibrary.org/obo/UBERON_0004217 upper arm nerve 'upper arm nerve' SubClassOf 'arm nerve' http://purl.obolibrary.org/obo/UBERON_0004216 lower arm nerve 'lower arm nerve' SubClassOf 'arm nerve' http://purl.obolibrary.org/obo/UBERON_0006877 vasculature of liver 'vasculature of liver' SubClassOf 'vasculature of trunk' 'vasculature of liver' SubClassOf 'vasculature of organ' http://purl.obolibrary.org/obo/UBERON_0004211 nephron epithelium 'nephron epithelium' SubClassOf 'kidney epithelium' http://purl.obolibrary.org/obo/UBERON_0006875 embryonic handplate 'embryonic handplate' SubClassOf 'embryonic autopod plate' http://purl.obolibrary.org/obo/UBERON_0006872 handplate apical ectodermal ridge 'handplate apical ectodermal ridge' SubClassOf 'apical ectodermal ridge' http://purl.obolibrary.org/obo/UBERON_0004212 glomerular capillary 'glomerular capillary' SubClassOf 'kidney capillary' http://purl.obolibrary.org/obo/UBERON_0004229 urinary bladder trigone smooth muscle 'urinary bladder trigone smooth muscle' SubClassOf 'urinary bladder smooth muscle' http://purl.obolibrary.org/obo/UBERON_0004220 large intestine smooth muscle 'large intestine smooth muscle' SubClassOf 'intestine smooth muscle' http://purl.obolibrary.org/obo/UBERON_0004226 gastrointestinal system smooth muscle 'gastrointestinal system smooth muscle' SubClassOf 'smooth muscle tissue' http://purl.obolibrary.org/obo/UBERON_0004225 respiratory system smooth muscle 'respiratory system smooth muscle' SubClassOf 'smooth muscle tissue' http://purl.obolibrary.org/obo/UBERON_0004228 urinary bladder smooth muscle 'urinary bladder smooth muscle' SubClassOf 'smooth muscle tissue' http://purl.obolibrary.org/obo/UBERON_0004227 kidney pelvis smooth muscle 'kidney pelvis smooth muscle' SubClassOf 'smooth muscle tissue' http://purl.obolibrary.org/obo/UBERON_0004222 stomach smooth muscle 'stomach smooth muscle' SubClassOf 'gastrointestinal system smooth muscle' http://purl.obolibrary.org/obo/UBERON_0004221 intestine smooth muscle 'intestine smooth muscle' SubClassOf 'gastrointestinal system smooth muscle' http://purl.obolibrary.org/obo/UBERON_0004223 vagina smooth muscle 'vagina smooth muscle' SubClassOf 'smooth muscle tissue' http://purl.obolibrary.org/obo/UBERON_2000384 levator arcus palatini 'levator arcus palatini' SubClassOf 'mandibular muscle' http://purl.obolibrary.org/obo/UBERON_0004231 anal region smooth muscle 'anal region smooth muscle' SubClassOf 'smooth muscle tissue' http://purl.obolibrary.org/obo/UBERON_0004230 urinary bladder neck smooth muscle 'urinary bladder neck smooth muscle' SubClassOf 'urinary bladder smooth muscle' http://purl.obolibrary.org/obo/UBERON_0004237 blood vessel smooth muscle 'blood vessel smooth muscle' SubClassOf 'smooth muscle tissue' http://purl.obolibrary.org/obo/UBERON_0004236 arteriole smooth muscle 'arteriole smooth muscle' SubClassOf 'blood vessel smooth muscle' 'arteriole smooth muscle' SubClassOf 'arterial system smooth muscle' http://purl.obolibrary.org/obo/UBERON_0004239 small intestine smooth muscle 'small intestine smooth muscle' SubClassOf 'intestine smooth muscle' http://purl.obolibrary.org/obo/UBERON_0004238 spleen smooth muscle 'spleen smooth muscle' SubClassOf 'smooth muscle tissue' http://purl.obolibrary.org/obo/UBERON_0004233 lower respiratory tract smooth muscle 'lower respiratory tract smooth muscle' SubClassOf 'respiratory system smooth muscle' http://purl.obolibrary.org/obo/UBERON_0004232 lymphatic vessel smooth muscle 'lymphatic vessel smooth muscle' SubClassOf 'smooth muscle tissue' http://purl.obolibrary.org/obo/UBERON_0004235 mammary gland smooth muscle 'mammary gland smooth muscle' SubClassOf 'smooth muscle tissue' http://purl.obolibrary.org/obo/UBERON_0004234 iris smooth muscle 'iris smooth muscle' SubClassOf 'smooth muscle of eye' http://purl.obolibrary.org/obo/UBERON_2000371 internal pharyngoclavicularis 'internal pharyngoclavicularis' SubClassOf 'branchial muscle' http://purl.obolibrary.org/obo/UBERON_2000376 infraorbital 'infraorbital' SubClassOf 'facial bone' 'infraorbital' SubClassOf 'dermal bone' http://purl.obolibrary.org/obo/UBERON_0004240 gall bladder smooth muscle 'gall bladder smooth muscle' SubClassOf 'smooth muscle tissue' http://purl.obolibrary.org/obo/UBERON_0004242 bronchus smooth muscle 'bronchus smooth muscle' SubClassOf 'lower respiratory tract smooth muscle' http://purl.obolibrary.org/obo/UBERON_0004241 main bronchus smooth muscle 'main bronchus smooth muscle' SubClassOf 'bronchus smooth muscle' http://purl.obolibrary.org/obo/UBERON_0004248 pedal digit bone 'pedal digit bone' SubClassOf 'pedal digitopodium bone' http://purl.obolibrary.org/obo/UBERON_0004247 bone of dorsum 'bone of dorsum' SubClassOf 'bone' http://purl.obolibrary.org/obo/UBERON_0004249 manual digit bone 'manual digit bone' SubClassOf 'manual digitopodium bone' http://purl.obolibrary.org/obo/UBERON_0004243 prostate gland smooth muscle 'prostate gland smooth muscle' SubClassOf 'smooth muscle tissue' http://purl.obolibrary.org/obo/UBERON_0004246 outflow tract smooth muscle 'outflow tract smooth muscle' SubClassOf 'smooth muscle tissue' http://purl.obolibrary.org/obo/UBERON_0004245 oviduct smooth muscle 'oviduct smooth muscle' SubClassOf 'smooth muscle tissue' http://purl.obolibrary.org/obo/UBERON_0006838 ventral ramus of spinal nerve 'ventral ramus of spinal nerve' SubClassOf 'nerve' 'ventral ramus of spinal nerve' DisjointWith 'dorsal ramus of spinal nerve' http://purl.obolibrary.org/obo/UBERON_0006839 dorsal ramus of spinal nerve 'dorsal ramus of spinal nerve' SubClassOf 'nerve' 'ventral ramus of spinal nerve' DisjointWith 'dorsal ramus of spinal nerve' http://purl.obolibrary.org/obo/UBERON_0006836 medial tibial tarsal bone 'medial tibial tarsal bone' SubClassOf 'tarsal bone' http://purl.obolibrary.org/obo/UBERON_4000028 integumentary papilla 'integumentary papilla' SubClassOf 'odontogenic papilla' http://purl.obolibrary.org/obo/UBERON_0006831 pre-tracheal muscle 'pre-tracheal muscle' SubClassOf 'branchial muscle' http://purl.obolibrary.org/obo/UBERON_0006845 abductor muscle 'abductor muscle' SubClassOf 'skeletal muscle organ' http://purl.obolibrary.org/obo/UBERON_0006841 central vein of liver 'central vein of liver' SubClassOf 'liver blood vessel' 'central vein of liver' SubClassOf 'vein of abdomen' http://purl.obolibrary.org/obo/UBERON_0006842 lymphatic capillary 'lymphatic capillary' SubClassOf 'microcirculatory vessel' 'lymphatic capillary' SubClassOf 'lymphatic vessel' http://purl.obolibrary.org/obo/UBERON_0006858 adrenal/interrenal gland 'adrenal/interrenal gland' SubClassOf 'endocrine gland' http://purl.obolibrary.org/obo/UBERON_0006859 swim bladder bud 'swim bladder bud' SubClassOf 'presumptive structure' http://purl.obolibrary.org/obo/UBERON_0006856 interrenal gland 'interrenal gland' SubClassOf 'adrenal/interrenal gland' 'interrenal gland' SubClassOf 'hemolymphoid system gland' http://purl.obolibrary.org/obo/UBERON_0006857 interrenal primordium 'interrenal primordium' SubClassOf 'embryonic structure' 'interrenal primordium' SubClassOf 'primordium' http://purl.obolibrary.org/obo/UBERON_0006854 distal straight tubule postmacula segment 'distal straight tubule postmacula segment' SubClassOf 'renal cortex tubule' http://purl.obolibrary.org/obo/UBERON_0006852 glomerular visceral epithelium 'glomerular visceral epithelium' SubClassOf 'glomerular epithelium' http://purl.obolibrary.org/obo/UBERON_0006853 renal cortex tubule 'renal cortex tubule' SubClassOf 'region of nephron tubule' http://purl.obolibrary.org/obo/UBERON_0006851 renal cortex peritubular capillary 'renal cortex peritubular capillary' SubClassOf 'peritubular capillary' http://purl.obolibrary.org/obo/UBERON_4000030 oropharyngeal papilla 'oropharyngeal papilla' SubClassOf 'odontogenic papilla' http://purl.obolibrary.org/obo/UBERON_0004209 renal vesicle 'renal vesicle' SubClassOf 'epithelial vesicle' http://purl.obolibrary.org/obo/UBERON_0006868 seminal fluid secreting gland 'seminal fluid secreting gland' SubClassOf 'male reproductive gland' http://purl.obolibrary.org/obo/UBERON_0006863 proximal metaphysis of femur 'proximal metaphysis of femur' SubClassOf 'metaphysis of femur' http://purl.obolibrary.org/obo/UBERON_0006864 distal metaphysis of femur 'distal metaphysis of femur' SubClassOf 'metaphysis of femur' http://purl.obolibrary.org/obo/UBERON_0004294 glomerular capillary endothelium 'glomerular capillary endothelium' SubClassOf 'endothelium of capillary' 'glomerular capillary endothelium' SubClassOf 'glomerular endothelium' http://purl.obolibrary.org/obo/UBERON_0004297 respiratory system blood vessel smooth muscle 'respiratory system blood vessel smooth muscle' SubClassOf 'blood vessel smooth muscle' 'respiratory system blood vessel smooth muscle' SubClassOf 'respiratory system smooth muscle' http://purl.obolibrary.org/obo/UBERON_0004296 respiratory system lymphatic vessel smooth muscle 'respiratory system lymphatic vessel smooth muscle' SubClassOf 'respiratory system smooth muscle' 'respiratory system lymphatic vessel smooth muscle' SubClassOf 'lymphatic vessel smooth muscle' http://purl.obolibrary.org/obo/UBERON_0004291 heart rudiment 'heart rudiment' SubClassOf 'meso-epithelium' http://purl.obolibrary.org/obo/UBERON_0004290 dermomyotome 'dermomyotome' SubClassOf 'multilaminar epithelium' http://purl.obolibrary.org/obo/UBERON_0004293 parasympathetic nerve 'parasympathetic nerve' SubClassOf 'nerve' http://purl.obolibrary.org/obo/MONDO_0000603 autoimmune disease of cardiovascular system 'autoimmune disease of cardiovascular system' SubClassOf 'type II hypersensitivity reaction disease' 'autoimmune disease of cardiovascular system' SubClassOf 'cardiovascular disease' http://purl.obolibrary.org/obo/MONDO_0000602 autoimmune disease of blood 'autoimmune disease of blood' SubClassOf 'hematologic disease' 'autoimmune disease of blood' SubClassOf 'type II hypersensitivity reaction disease' http://purl.obolibrary.org/obo/MONDO_0000601 autoimmune disease of urogenital tract 'autoimmune disease of urogenital tract' SubClassOf 'type II hypersensitivity reaction disease' 'autoimmune disease of urogenital tract' SubClassOf 'disease of genitourinary system' http://purl.obolibrary.org/obo/MONDO_0000608 familial juvenile hyperuricemic nephropathy 'familial juvenile hyperuricemic nephropathy' SubClassOf 'kidney disease' http://purl.obolibrary.org/obo/UBERON_4000052 ganoid scale 'ganoid scale' SubClassOf 'dermal scale' http://purl.obolibrary.org/obo/UBERON_4000055 polypteroid scale 'polypteroid scale' SubClassOf 'ganoid scale' http://purl.obolibrary.org/obo/MONDO_0000611 pre-malignant neoplasm 'pre-malignant neoplasm' SubClassOf 'precancerous condition' 'pre-malignant neoplasm' SubClassOf 'neoplasm' http://purl.obolibrary.org/obo/UBERON_4000051 lepidosteoid scale 'lepidosteoid scale' SubClassOf 'ganoid scale' http://purl.obolibrary.org/obo/MONDO_0000612 lymphatic system cancer 'lymphatic system cancer' SubClassOf 'immune system cancer' 'lymphatic system cancer' SubClassOf 'lymphatic system disease' http://purl.obolibrary.org/obo/MONDO_0000618 Her2-receptor negative breast cancer 'Her2-receptor negative breast cancer' SubClassOf 'Breast Carcinoma by Gene Expression Profile' http://purl.obolibrary.org/obo/UBERON_4000081 cosmoid scale 'cosmoid scale' SubClassOf 'dermal scale' http://purl.obolibrary.org/obo/MONDO_0000621 immune system cancer 'immune system cancer' SubClassOf 'immune system disease' 'immune system cancer' SubClassOf 'cancer' http://purl.obolibrary.org/obo/MONDO_0000620 breast benign neoplasm 'breast benign neoplasm' SubClassOf 'thoracic benign neoplasm' 'breast benign neoplasm' SubClassOf 'breast neoplasm' http://purl.obolibrary.org/obo/UBERON_4000080 keratin-based scale 'keratin-based scale' SubClassOf 'dermal scale' http://purl.obolibrary.org/obo/MONDO_0000624 benign female reproductive system neoplasm 'benign female reproductive system neoplasm' SubClassOf 'female reproductive system neoplasm' 'benign female reproductive system neoplasm' SubClassOf 'benign reproductive system neoplasm' http://purl.obolibrary.org/obo/MONDO_0000629 cardiovascular organ benign neoplasm 'cardiovascular organ benign neoplasm' SubClassOf 'benign neoplasm' 'cardiovascular organ benign neoplasm' SubClassOf 'cardiovascular neoplasm' http://purl.obolibrary.org/obo/MONDO_0000628 central nervous system organ benign neoplasm 'central nervous system organ benign neoplasm' SubClassOf 'nervous system benign neoplasm' 'central nervous system organ benign neoplasm' SubClassOf 'Central Nervous System Neoplasm' http://purl.obolibrary.org/obo/MONDO_0000627 benign endocrine neoplasm 'benign endocrine neoplasm' SubClassOf 'endocrine gland neoplasm' 'benign endocrine neoplasm' SubClassOf 'benign neoplasm' http://purl.obolibrary.org/obo/UBERON_4000074 palaeoniscoid scale 'palaeoniscoid scale' SubClassOf 'ganoid scale' http://purl.obolibrary.org/obo/MONDO_0000633 sensory organ benign neoplasm 'sensory organ benign neoplasm' SubClassOf 'nervous system benign neoplasm' 'sensory organ benign neoplasm' SubClassOf 'sensory system disease' http://purl.obolibrary.org/obo/UBERON_4000070 elasmoid scale 'elasmoid scale' SubClassOf 'dermal scale' http://purl.obolibrary.org/obo/MONDO_0000632 uterine benign neoplasm 'uterine benign neoplasm' SubClassOf 'benign female reproductive system neoplasm' 'uterine benign neoplasm' SubClassOf 'tumor of uterus' http://purl.obolibrary.org/obo/MONDO_0000631 bone benign neoplasm 'bone benign neoplasm' SubClassOf 'benign connective and soft tissue neoplasm' 'bone benign neoplasm' SubClassOf 'bone neoplasm' http://purl.obolibrary.org/obo/MONDO_0000637 musculoskeletal system cancer 'musculoskeletal system cancer' SubClassOf 'musculoskeletal system disease' 'musculoskeletal system cancer' SubClassOf 'cancer' http://purl.obolibrary.org/obo/MONDO_0000636 musculoskeletal system benign neoplasm 'musculoskeletal system benign neoplasm' SubClassOf 'benign neoplasm' 'musculoskeletal system benign neoplasm' SubClassOf 'musculoskeletal system disease' http://purl.obolibrary.org/obo/MONDO_0000634 thoracic benign neoplasm 'thoracic benign neoplasm' SubClassOf 'neoplasm of thorax' 'thoracic benign neoplasm' SubClassOf 'benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0000640 central nervous system primitive neuroectodermal neoplasm 'central nervous system primitive neuroectodermal neoplasm' SubClassOf 'central nervous system cancer' 'central nervous system primitive neuroectodermal neoplasm' SubClassOf 'central nervous system germ cell tumor' 'central nervous system primitive neuroectodermal neoplasm' SubClassOf 'extragonadal germ cell cancer' 'central nervous system primitive neuroectodermal neoplasm' SubClassOf 'primitive neuroectodermal tumor' http://purl.obolibrary.org/obo/MONDO_0024610 parasitic skin disease 'parasitic skin disease' SubClassOf 'parasitic infection' 'parasitic skin disease' SubClassOf 'skin disease caused by infection' http://purl.obolibrary.org/obo/UBERON_0004251 hindlimb zeugopod bone 'hindlimb zeugopod bone' SubClassOf 'leg bone' http://purl.obolibrary.org/obo/UBERON_0004250 upper arm bone 'upper arm bone' SubClassOf 'arm bone' http://purl.obolibrary.org/obo/UBERON_0004252 hindlimb stylopod muscle 'hindlimb stylopod muscle' SubClassOf 'muscle of leg' http://purl.obolibrary.org/obo/MONDO_0000648 nervous system benign neoplasm 'nervous system benign neoplasm' SubClassOf 'nervous system neoplasm' 'nervous system benign neoplasm' SubClassOf 'benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0024615 T-cell and NK-cell neoplasm 'T-cell and NK-cell neoplasm' SubClassOf 'lymphoid neoplasm' http://purl.obolibrary.org/obo/UBERON_0004259 lower arm blood vessel 'lower arm blood vessel' SubClassOf 'arm blood vessel' http://purl.obolibrary.org/obo/UBERON_0004258 back blood vessel 'back blood vessel' SubClassOf 'blood vessel' http://purl.obolibrary.org/obo/MONDO_0000646 ovarian benign neoplasm 'ovarian benign neoplasm' SubClassOf 'benign female reproductive system neoplasm' 'ovarian benign neoplasm' SubClassOf 'ovarian neoplasm' http://purl.obolibrary.org/obo/UBERON_0004255 forelimb stylopod muscle 'forelimb stylopod muscle' SubClassOf 'muscle of arm' http://purl.obolibrary.org/obo/MONDO_0024618 poliovirus infection 'poliovirus infection' SubClassOf 'Enterovirus infectious disease' http://purl.obolibrary.org/obo/UBERON_0004254 forelimb zeugopod muscle 'forelimb zeugopod muscle' SubClassOf 'muscle of arm' http://purl.obolibrary.org/obo/UBERON_0004257 upper leg blood vessel 'upper leg blood vessel' SubClassOf 'leg blood vessel' http://purl.obolibrary.org/obo/MONDO_0000649 sensory system cancer 'sensory system cancer' SubClassOf 'sensory system disease' 'sensory system cancer' SubClassOf 'nervous system cancer' http://purl.obolibrary.org/obo/UBERON_0004256 hindlimb zeugopod muscle 'hindlimb zeugopod muscle' SubClassOf 'muscle of leg' http://purl.obolibrary.org/obo/MONDO_0000651 thoracic disease 'thoracic disease' SubClassOf 'disorder by anatomical region' http://purl.obolibrary.org/obo/MONDO_0000650 peritoneal benign neoplasm 'peritoneal benign neoplasm' SubClassOf 'benign neoplasm' 'peritoneal benign neoplasm' SubClassOf 'peritoneal neoplasm' http://purl.obolibrary.org/obo/MONDO_0000654 benign connective and soft tissue neoplasm 'benign connective and soft tissue neoplasm' SubClassOf 'connective and soft tissue neoplasm' 'benign connective and soft tissue neoplasm' SubClassOf 'musculoskeletal system benign neoplasm' 'benign connective and soft tissue neoplasm' SubClassOf 'connective tissue neoplasm' http://purl.obolibrary.org/obo/MONDO_0000653 integumentary system cancer 'integumentary system cancer' SubClassOf 'cancer' 'integumentary system cancer' SubClassOf 'integumentary system disease' http://purl.obolibrary.org/obo/MONDO_0000652 integumentary system benign neoplasm 'integumentary system benign neoplasm' SubClassOf 'integumentary system disease' 'integumentary system benign neoplasm' SubClassOf 'benign neoplasm' http://purl.obolibrary.org/obo/UBERON_0004262 upper leg skin 'upper leg skin' SubClassOf 'skin of leg' http://purl.obolibrary.org/obo/UBERON_0004261 lower leg blood vessel 'lower leg blood vessel' SubClassOf 'leg blood vessel' http://purl.obolibrary.org/obo/UBERON_0004263 upper arm skin 'upper arm skin' SubClassOf 'arm skin' http://purl.obolibrary.org/obo/UBERON_0004260 upper arm blood vessel 'upper arm blood vessel' SubClassOf 'arm blood vessel' http://purl.obolibrary.org/obo/UBERON_0004265 outflow tract myocardium 'outflow tract myocardium' SubClassOf 'myocardium' http://purl.obolibrary.org/obo/MONDO_0024633 hypertensive renal disease 'hypertensive renal disease' EquivalentTo 'kidney disease' and ('disease arises from feature' some 'hypertension') 'hypertensive renal disease' SubClassOf 'disease arises from feature' some 'hypertension' 'hypertensive renal disease' SubClassOf 'kidney disease' http://purl.obolibrary.org/obo/MONDO_0000665 apraxia 'apraxia' SubClassOf 'perceptual disorders' http://purl.obolibrary.org/obo/MONDO_0024635 small intestine disease 'small intestine disease' SubClassOf 'intestinal disease' http://purl.obolibrary.org/obo/MONDO_0024634 large intestine disease 'large intestine disease' SubClassOf 'intestinal disease' http://purl.obolibrary.org/obo/UBERON_0004273 cartilaginous joint suture 'cartilaginous joint suture' SubClassOf 'cranial suture' http://purl.obolibrary.org/obo/UBERON_0004275 third ventricle choroid plexus epithelium 'third ventricle choroid plexus epithelium' SubClassOf 'choroid plexus epithelium' http://purl.obolibrary.org/obo/UBERON_0004274 lateral ventricle choroid plexus epithelium 'lateral ventricle choroid plexus epithelium' SubClassOf 'choroid plexus epithelium' http://purl.obolibrary.org/obo/UBERON_0004271 outflow tract pericardium 'outflow tract pericardium' SubClassOf 'pericardium' http://purl.obolibrary.org/obo/MONDO_0024637 malignant soft tissue neoplasm 'malignant soft tissue neoplasm' SubClassOf 'cancer' 'malignant soft tissue neoplasm' SubClassOf 'Soft Tissue Neoplasm' http://purl.obolibrary.org/obo/MONDO_0024636 inflammation of heart layer 'inflammation of heart layer' SubClassOf 'inflammatory disease' 'inflammation of heart layer' SubClassOf 'heart disease' http://purl.obolibrary.org/obo/UBERON_0004276 fourth ventricle choroid plexus epithelium 'fourth ventricle choroid plexus epithelium' SubClassOf 'choroid plexus epithelium' http://purl.obolibrary.org/obo/MONDO_0024620 meningitis caused by poliovirus 'meningitis caused by poliovirus' SubClassOf 'viral infection of central nervous system' 'meningitis caused by poliovirus' SubClassOf 'poliovirus infection' 'meningitis caused by poliovirus' SubClassOf 'meningitis (disease)' 'meningitis caused by poliovirus' EquivalentTo 'meningitis (disease)' and 'poliovirus infection' 'meningitis caused by poliovirus' SubClassOf 'infectious meningitis' http://purl.obolibrary.org/obo/MONDO_0024622 thyroid gland adenocarcinoma 'thyroid gland adenocarcinoma' SubClassOf 'adenocarcinoma' 'thyroid gland adenocarcinoma' SubClassOf 'thyroid gland carcinoma' http://purl.obolibrary.org/obo/MONDO_0024621 serous cystadenocarcinoma 'serous cystadenocarcinoma' SubClassOf 'cystadenocarcinoma' 'serous cystadenocarcinoma' SubClassOf 'serous adenocarcinoma' 'serous cystadenocarcinoma' EquivalentTo 'serous adenocarcinoma' and 'cystadenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0024623 otorhinolaryngologic disease 'otorhinolaryngologic disease' SubClassOf 'head and neck disorder' http://purl.obolibrary.org/obo/MONDO_0024626 defective phagocytic cell engulfment 'defective phagocytic cell engulfment' SubClassOf 'disease by cellular process disrupted' 'defective phagocytic cell engulfment' SubClassOf 'phagocytic cell dysfunction' http://purl.obolibrary.org/obo/MONDO_0024625 disorder of lacrimal gland 'disorder of lacrimal gland' SubClassOf 'lacrimal apparatus disease' http://purl.obolibrary.org/obo/MONDO_0024627 phagocytic cell dysfunction 'phagocytic cell dysfunction' SubClassOf 'disease by cell type' http://purl.obolibrary.org/obo/MONDO_0024653 skull neoplasm 'skull neoplasm' SubClassOf 'skull disorder' 'skull neoplasm' SubClassOf 'head and neck neoplasia' 'skull neoplasm' SubClassOf 'bone neoplasm' http://purl.obolibrary.org/obo/MONDO_0024654 skull disorder 'skull disorder' SubClassOf 'head disease' 'skull disorder' SubClassOf 'bone disease' http://purl.obolibrary.org/obo/MONDO_0024656 colorectal lymphoma 'colorectal lymphoma' SubClassOf 'gastrointestinal lymphoma' 'colorectal lymphoma' SubClassOf 'colorectal cancer' http://purl.obolibrary.org/obo/MONDO_0000698 gamma-amino butyric acid metabolism disorder 'gamma-amino butyric acid metabolism disorder' SubClassOf 'Disorder of gamma-aminobutyric acid metabolism' http://purl.obolibrary.org/obo/MONDO_0024643 myocardial disorder 'myocardial disorder' SubClassOf 'heart disease' 'myocardial disorder' SubClassOf 'musculoskeletal system disease' http://purl.obolibrary.org/obo/MONDO_0024645 retroperitoneal neoplasm 'retroperitoneal neoplasm' SubClassOf 'disease of retroperitoneum' 'retroperitoneal neoplasm' SubClassOf 'neoplasm' http://purl.obolibrary.org/obo/MONDO_0009022 corpus callosum, agenesis of 'corpus callosum, agenesis of' SubClassOf 'congenital nervous system disorder' 'corpus callosum, agenesis of' SubClassOf 'Rare genetic neurological disorder' http://purl.obolibrary.org/obo/MONDO_0024647 urolithiasis 'urolithiasis' SubClassOf 'urinary system disease' http://purl.obolibrary.org/obo/MONDO_0024649 optic tract astrocytoma 'optic tract astrocytoma' SubClassOf 'optic pathway glioma' 'optic tract astrocytoma' SubClassOf 'pituitary cancer' 'optic tract astrocytoma' SubClassOf 'sensory system cancer' 'optic tract astrocytoma' SubClassOf 'diencephalic astrocytomas' http://purl.obolibrary.org/obo/MONDO_0024662 colorectal tubulovillous adenoma 'colorectal tubulovillous adenoma' SubClassOf 'colorectal adenoma' 'colorectal tubulovillous adenoma' EquivalentTo 'tubulovillous adenoma' and 'colorectal adenoma' 'colorectal tubulovillous adenoma' SubClassOf 'tubulovillous adenoma' http://purl.obolibrary.org/obo/MONDO_0024661 tubulovillous adenoma 'tubulovillous adenoma' SubClassOf 'adenoma' http://purl.obolibrary.org/obo/MONDO_0024664 hypertension, pregnancy-induced 'hypertension, pregnancy-induced' EquivalentTo 'hypertension' and 'pregnancy disorder' 'hypertension, pregnancy-induced' SubClassOf 'pregnancy disorder' 'hypertension, pregnancy-induced' SubClassOf 'hypertension' http://purl.obolibrary.org/obo/MONDO_0024666 benign epithelial skin neoplasm 'benign epithelial skin neoplasm' SubClassOf 'benign epithelial neoplasm' 'benign epithelial skin neoplasm' SubClassOf 'benign neoplasm of skin' 'benign epithelial skin neoplasm' SubClassOf 'epithelial skin neoplasm' http://purl.obolibrary.org/obo/MONDO_0024665 indeterminate sex and/or pseudohermaphroditism 'indeterminate sex and/or pseudohermaphroditism' SubClassOf 'Genetic disorder of sex development' http://purl.obolibrary.org/obo/MONDO_0024660 tubular adenoma 'tubular adenoma' SubClassOf 'adenoma' http://purl.obolibrary.org/obo/UBERON_6007116 presumptive embryonic/larval system 'presumptive embryonic/larval system' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/MONDO_0036696 spleen neoplasm 'spleen neoplasm' SubClassOf 'hematopoietic and lymphoid system neoplasm' 'spleen neoplasm' SubClassOf 'splenic disease' 'spleen neoplasm' SubClassOf 'digestive system neoplasm' http://purl.obolibrary.org/obo/MONDO_0036688 rhabdomyoma 'rhabdomyoma' SubClassOf 'benign muscle neoplasm' http://purl.obolibrary.org/obo/MONDO_0024497 tumor grade 3 or 4, general grading system 'tumor grade 3 or 4, general grading system' EquivalentTo 'tumor grade 3, general grading system' or 'tumor grade 4, general grading system' 'tumor grade 3 or 4, general grading system' SubClassOf 'general tumor grading characteristic' http://purl.obolibrary.org/obo/MONDO_0024496 tumor grade 2 or 3, general grading system 'tumor grade 2 or 3, general grading system' EquivalentTo 'tumor grade 2, general grading system' or 'tumor grade 3, general grading system' 'tumor grade 2 or 3, general grading system' SubClassOf 'general tumor grading characteristic' http://purl.obolibrary.org/obo/MONDO_0024499 vascular bone neoplasm 'vascular bone neoplasm' SubClassOf 'bone neoplasm' 'vascular bone neoplasm' SubClassOf 'vascular neoplasm' http://purl.obolibrary.org/obo/MONDO_0024491 tumor grade 1, general grading system 'tumor grade 1, general grading system' SubClassOf 'tumor grade 1 or 2, general grading system' http://purl.obolibrary.org/obo/MONDO_0024493 tumor grade 3, general grading system 'tumor grade 3, general grading system' SubClassOf 'tumor grade 3 or 4, general grading system' 'tumor grade 3, general grading system' SubClassOf 'tumor grade 2 or 3, general grading system' http://purl.obolibrary.org/obo/MONDO_0024492 tumor grade 2, general grading system 'tumor grade 2, general grading system' SubClassOf 'tumor grade 2 or 3, general grading system' 'tumor grade 2, general grading system' SubClassOf 'tumor grade 1 or 2, general grading system' http://purl.obolibrary.org/obo/MONDO_0024495 tumor grade 1 or 2, general grading system 'tumor grade 1 or 2, general grading system' EquivalentTo 'tumor grade 1, general grading system' or 'tumor grade 2, general grading system' 'tumor grade 1 or 2, general grading system' SubClassOf 'general tumor grading characteristic' http://purl.obolibrary.org/obo/MONDO_0024494 tumor grade 4, general grading system 'tumor grade 4, general grading system' SubClassOf 'tumor grade 3 or 4, general grading system' http://purl.obolibrary.org/obo/UBERON_2000201 dorsal transverse 'dorsal transverse' SubClassOf 'branchial muscle' http://purl.obolibrary.org/obo/UBERON_2000202 efferent portion of pharyngeal arch artery 'efferent portion of pharyngeal arch artery' SubClassOf 'craniocervical region vein' 'efferent portion of pharyngeal arch artery' SubClassOf 'head blood vessel' 'efferent portion of pharyngeal arch artery' SubClassOf 'respiratory system artery' http://purl.obolibrary.org/obo/UBERON_2000203 rhinosphenoid 'rhinosphenoid' SubClassOf 'endochondral bone' 'rhinosphenoid' SubClassOf 'facial bone' 'rhinosphenoid' SubClassOf 'neurocranium bone' http://purl.obolibrary.org/obo/UBERON_2000205 external ventral flexor 'external ventral flexor' SubClassOf 'flexor muscle' http://purl.obolibrary.org/obo/MONDO_0024488 tumor grading characteristic 'tumor grading characteristic' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0024489 general tumor grading characteristic 'general tumor grading characteristic' SubClassOf 'tumor grading characteristic' http://purl.obolibrary.org/obo/MONDO_0024482 eccrine sweat gland hamartoma 'eccrine sweat gland hamartoma' SubClassOf 'hamartoma of skin appendage' 'eccrine sweat gland hamartoma' SubClassOf 'eccrine sweat gland neoplasm' http://purl.obolibrary.org/obo/MONDO_0024481 skin appendage disease 'skin appendage disease' SubClassOf 'integumentary system disease' http://purl.obolibrary.org/obo/MONDO_0024483 urothelial hyperplasia 'urothelial hyperplasia' SubClassOf 'urinary system disease' 'urothelial hyperplasia' SubClassOf 'hyperplasia' http://purl.obolibrary.org/obo/UBERON_2000230 longitudinal hypochordal 'longitudinal hypochordal' SubClassOf 'skeletal muscle organ' http://purl.obolibrary.org/obo/UBERON_2000239 mesocoracoid bone 'mesocoracoid bone' SubClassOf 'endochondral bone' 'mesocoracoid bone' SubClassOf 'pectoral girdle bone' http://purl.obolibrary.org/obo/UBERON_2000221 internal levator 'internal levator' SubClassOf 'branchial muscle' http://purl.obolibrary.org/obo/UBERON_2000223 infraorbital 1 'infraorbital 1' SubClassOf 'infraorbital' http://purl.obolibrary.org/obo/UBERON_2000225 lateral crista primordium 'lateral crista primordium' SubClassOf 'epithelium of lateral semicircular canal' 'lateral crista primordium' SubClassOf 'epithelium of otic placode' http://purl.obolibrary.org/obo/UBERON_2000226 lateral ethmoid bone 'lateral ethmoid bone' SubClassOf 'neurocranium bone' 'lateral ethmoid bone' SubClassOf 'endochondral bone' http://purl.obolibrary.org/obo/UBERON_2000214 hypobranchial vessel 'hypobranchial vessel' SubClassOf 'heart blood vessel' http://purl.obolibrary.org/obo/UBERON_2000216 infracarinalis 'infracarinalis' SubClassOf 'skeletal muscle of trunk' http://purl.obolibrary.org/obo/UBERON_2000285 superficial adductor 'superficial adductor' SubClassOf 'adductor muscle' 'superficial adductor' SubClassOf 'pectoral appendage muscle' http://purl.obolibrary.org/obo/UBERON_2000286 superficial lateralis (teleost) 'superficial lateralis (teleost)' SubClassOf 'skeletal muscle of trunk' http://purl.obolibrary.org/obo/UBERON_2000287 superior dorsal flexor 'superior dorsal flexor' SubClassOf 'flexor muscle' http://purl.obolibrary.org/obo/UBERON_2000288 supracarinalis 'supracarinalis' SubClassOf 'skeletal muscle of trunk' http://purl.obolibrary.org/obo/UBERON_2000289 preopercle horizontal limb 'preopercle horizontal limb' SubClassOf 'dermal bone' http://purl.obolibrary.org/obo/UBERON_0006757 lateral lingual swelling 'lateral lingual swelling' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0006755 inferior parathyroid gland 'inferior parathyroid gland' SubClassOf 'parathyroid gland' http://purl.obolibrary.org/obo/UBERON_0006756 median lingual swelling 'median lingual swelling' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_2000271 radial bone 'radial bone' SubClassOf 'fin bone' 'radial bone' SubClassOf 'endochondral bone' http://purl.obolibrary.org/obo/UBERON_0006768 epiphyseal line 'epiphyseal line' SubClassOf 'synostosis' http://purl.obolibrary.org/obo/UBERON_0006766 right anterior vena cava 'right anterior vena cava' SubClassOf 'vein' http://purl.obolibrary.org/obo/UBERON_0006764 anterior communicating artery 'anterior communicating artery' SubClassOf 'communicating artery' 'anterior communicating artery' SubClassOf 'branch of anterior cerebral artery' 'posterior communicating artery' DisjointWith 'anterior communicating artery' http://purl.obolibrary.org/obo/UBERON_0004100 renal collecting system 'renal collecting system' SubClassOf 'anatomical system' http://purl.obolibrary.org/obo/UBERON_0006765 left anterior vena cava 'left anterior vena cava' SubClassOf 'vein' http://purl.obolibrary.org/obo/UBERON_0006762 suspensory ligament of lens 'suspensory ligament of lens' SubClassOf 'suspensory ligament' http://purl.obolibrary.org/obo/UBERON_2000261 pharyngohyoid 'pharyngohyoid' SubClassOf 'branchial muscle' http://purl.obolibrary.org/obo/UBERON_2000268 anal fin proximal radial bone 'anal fin proximal radial bone' SubClassOf 'anal fin radial bone' http://purl.obolibrary.org/obo/UBERON_2000269 inferior ventral flexor 'inferior ventral flexor' SubClassOf 'flexor muscle' http://purl.obolibrary.org/obo/UBERON_0004116 nerve of tympanic cavity 'nerve of tympanic cavity' SubClassOf 'nerve of head region' http://purl.obolibrary.org/obo/UBERON_0004115 blood vessel of tympanic cavity 'blood vessel of tympanic cavity' SubClassOf 'head blood vessel' http://purl.obolibrary.org/obo/UBERON_0004118 vasculature of iris 'vasculature of iris' SubClassOf 'vasculature of eye' http://purl.obolibrary.org/obo/UBERON_0006777 tectal plate 'tectal plate' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0004113 muscle of auditory ossicle 'muscle of auditory ossicle' SubClassOf 'cranial muscle' http://purl.obolibrary.org/obo/UBERON_2000251 adipose fin 'adipose fin' SubClassOf 'median fin' http://purl.obolibrary.org/obo/UBERON_0004126 trabecular layer of ventricle 'trabecular layer of ventricle' SubClassOf 'trabecular layer' http://purl.obolibrary.org/obo/UBERON_0006719 lateral pterygoid muscle 'lateral pterygoid muscle' SubClassOf 'pterygoid muscle' 'medial pterygoid muscle' DisjointWith 'lateral pterygoid muscle' http://purl.obolibrary.org/obo/UBERON_0006718 medial pterygoid muscle 'medial pterygoid muscle' SubClassOf 'pterygoid muscle' 'medial pterygoid muscle' DisjointWith 'lateral pterygoid muscle' http://purl.obolibrary.org/obo/UBERON_0006715 radio-ulna 'radio-ulna' SubClassOf 'forelimb zeugopod bone' http://purl.obolibrary.org/obo/UBERON_0006714 tibiofibula 'tibiofibula' SubClassOf 'hindlimb zeugopod bone' http://purl.obolibrary.org/obo/UBERON_0006725 spiral ligament 'spiral ligament' SubClassOf 'nonskeletal ligament' http://purl.obolibrary.org/obo/UBERON_0006720 pterygoid muscle 'pterygoid muscle' SubClassOf 'masticatory muscle' http://purl.obolibrary.org/obo/UBERON_0006721 alisphenoid bone 'alisphenoid bone' SubClassOf 'facial bone' 'alisphenoid bone' SubClassOf 'endochondral bone' 'alisphenoid bone' SubClassOf 'neurocranium bone' http://purl.obolibrary.org/obo/UBERON_4000134 ossified tendon 'ossified tendon' SubClassOf 'sesamoid bone' http://purl.obolibrary.org/obo/UBERON_4000162 median fin 'median fin' SubClassOf 'fin' http://purl.obolibrary.org/obo/UBERON_4000160 anocleithrum 'anocleithrum' SubClassOf 'pectoral girdle bone' 'anocleithrum' SubClassOf 'dermal bone' http://purl.obolibrary.org/obo/UBERON_4000166 anal fin skeleton 'anal fin skeleton' SubClassOf 'median fin skeleton' http://purl.obolibrary.org/obo/UBERON_4000167 caudal fin skeleton 'caudal fin skeleton' SubClassOf 'median fin skeleton' http://purl.obolibrary.org/obo/UBERON_4000168 dorsal fin skeleton 'dorsal fin skeleton' SubClassOf 'median fin skeleton' http://purl.obolibrary.org/obo/UBERON_0006749 superior parathyroid gland 'superior parathyroid gland' SubClassOf 'parathyroid gland' http://purl.obolibrary.org/obo/UBERON_4000159 ossified ligament 'ossified ligament' SubClassOf 'sesamoid bone' http://purl.obolibrary.org/obo/UBERON_4000182 suprabranchial fin 'suprabranchial fin' SubClassOf 'paired fin' http://purl.obolibrary.org/obo/UBERON_0004178 aorta smooth muscle tissue 'aorta smooth muscle tissue' SubClassOf 'arterial system smooth muscle' 'aorta smooth muscle tissue' SubClassOf 'blood vessel smooth muscle' http://purl.obolibrary.org/obo/UBERON_4000173 pelvic fin lepidotrichium 'pelvic fin lepidotrichium' SubClassOf 'paired fin lepidotrichium' 'pelvic fin lepidotrichium' SubClassOf 'bone of pelvic complex' http://purl.obolibrary.org/obo/UBERON_4000174 caudal fin lepidotrichium 'caudal fin lepidotrichium' SubClassOf 'median fin lepidotrichium' http://purl.obolibrary.org/obo/UBERON_4000175 pectoral fin lepidotrichium 'pectoral fin lepidotrichium' SubClassOf 'bone of pectoral complex' 'pectoral fin lepidotrichium' SubClassOf 'paired fin lepidotrichium' http://purl.obolibrary.org/obo/UBERON_4000176 anal fin lepidotrichium 'anal fin lepidotrichium' SubClassOf 'median fin lepidotrichium' http://purl.obolibrary.org/obo/UBERON_4000172 lepidotrichium 'lepidotrichium' SubClassOf 'bony fin ray' 'lepidotrichium' SubClassOf 'dermal bone' http://purl.obolibrary.org/obo/UBERON_0004190 renal glomerulus vasculature 'renal glomerulus vasculature' SubClassOf 'kidney vasculature' http://purl.obolibrary.org/obo/UBERON_0004187 Harderian gland 'lacrimal gland' DisjointWith 'Harderian gland' 'Harderian gland' SubClassOf 'eye gland' 'Harderian gland' SubClassOf 'medial gland of ocular region' 'Harderian gland' SubClassOf 'exocrine gland' http://purl.obolibrary.org/obo/UBERON_0004180 mammary gland fat 'mammary gland fat' SubClassOf 'adipose tissue' http://purl.obolibrary.org/obo/UBERON_0004183 placental labyrinth blood vessel 'placental labyrinth blood vessel' SubClassOf 'placenta blood vessel' http://purl.obolibrary.org/obo/UBERON_0004182 mammary gland cord 'mammary gland cord' SubClassOf 'epithelial cord' 'mammary gland cord' SubClassOf 'epithelium of mammary gland' 'mammary gland cord' SubClassOf 'epithelial layer of duct' http://purl.obolibrary.org/obo/UBERON_0004189 glomerular endothelium 'glomerular endothelium' SubClassOf 'cardiovascular system endothelium' 'glomerular endothelium' SubClassOf 'glomerular epithelium' http://purl.obolibrary.org/obo/UBERON_4000177 dorsal fin lepidotrichium 'dorsal fin lepidotrichium' SubClassOf 'median fin lepidotrichium' 'dorsal fin lepidotrichium' SubClassOf 'bone of dorsum' http://purl.obolibrary.org/obo/UBERON_0004188 glomerular epithelium 'glomerular epithelium' SubClassOf 'nephron epithelium' 'glomerular epithelium' SubClassOf 'meso-epithelium' http://purl.obolibrary.org/obo/UBERON_0004193 loop of Henle ascending limb thin segment 'loop of Henle ascending limb thin segment' SubClassOf 'region of nephron tubule' http://purl.obolibrary.org/obo/MONDO_0000502 villous adenoma 'villous adenoma' SubClassOf 'adenoma' 'villous adenoma' SubClassOf 'glandular cell neoplasm' http://purl.obolibrary.org/obo/MONDO_0000509 non-syndromic intellectual disability 'non-syndromic intellectual disability' SubClassOf 'has modifier' some 'has an isolated presentation' 'non-syndromic intellectual disability' SubClassOf 'developmental disorder of mental health' http://purl.obolibrary.org/obo/MONDO_0000508 syndromic intellectual disability 'syndromic intellectual disability' SubClassOf 'developmental disorder of mental health' 'syndromic intellectual disability' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0000515 bone chondrosarcoma 'bone chondrosarcoma' SubClassOf 'bone cancer' 'bone chondrosarcoma' SubClassOf 'chondrosarcoma' http://purl.obolibrary.org/obo/MONDO_0000521 salivary gland carcinoma 'salivary gland carcinoma' SubClassOf 'oral cavity carcinoma' 'salivary gland carcinoma' SubClassOf 'salivary gland cancer' http://purl.obolibrary.org/obo/MONDO_0000527 colon adenoma 'colon adenoma' SubClassOf 'colorectal adenoma' 'colon adenoma' SubClassOf 'epithelial tumor of colon' http://purl.obolibrary.org/obo/UBERON_0004138 somitomeric trunk muscle 'somitomeric trunk muscle' SubClassOf 'skeletal muscle of trunk' http://purl.obolibrary.org/obo/UBERON_0006799 glandular epithelium 'glandular epithelium' SubClassOf 'epithelium' 'glandular epithelium' DisjointWith 'non-glandular epithelium' http://purl.obolibrary.org/obo/UBERON_0004139 cardiogenic plate 'cardiogenic plate' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0004134 proximal tubule 'proximal tubule' SubClassOf 'renal cortex tubule' http://purl.obolibrary.org/obo/UBERON_0006798 efferent nerve 'efferent nerve' SubClassOf 'nerve' http://purl.obolibrary.org/obo/UBERON_0004136 intermediate tubule 'intermediate tubule' SubClassOf 'region of nephron tubule' http://purl.obolibrary.org/obo/UBERON_0004135 distal tubule 'distal tubule' SubClassOf 'region of nephron tubule' http://purl.obolibrary.org/obo/MONDO_0000530 rectum adenoma 'rectum adenoma' SubClassOf 'epithelial neoplasm of rectum' 'rectum adenoma' SubClassOf 'colorectal adenoma' http://purl.obolibrary.org/obo/MONDO_0000532 lung combined type small cell adenocarcinoma 'lung combined type small cell adenocarcinoma' EquivalentTo 'combined small cell lung carcinoma' and 'adenocarcinoma' 'lung combined type small cell adenocarcinoma' SubClassOf 'lung adenocarcinoma' 'lung combined type small cell adenocarcinoma' SubClassOf 'combined small cell lung carcinoma' http://purl.obolibrary.org/obo/UBERON_0004140 primary heart field 'primary heart field' SubClassOf 'anlage' 'primary heart field' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0004148 cardiac vein 'cardiac vein' SubClassOf 'heart blood vessel' 'cardiac vein' SubClassOf 'systemic vein' 'cardiac vein' SubClassOf 'thoracic vein' http://purl.obolibrary.org/obo/MONDO_0000535 tonsil squamous cell carcinoma 'tonsil squamous cell carcinoma' SubClassOf 'oropharynx squamous cell carcinoma' 'tonsil squamous cell carcinoma' SubClassOf 'tonsil carcinoma' http://purl.obolibrary.org/obo/MONDO_0000540 small intestinal neuroendocrine tumor G1 'small intestinal neuroendocrine tumor G1' SubClassOf 'small intestine neuroendocrine tumor, well differentiated, low or intermediate grade' 'small intestinal neuroendocrine tumor G1' SubClassOf 'intestinal neuroendocrine tumor G1' http://purl.obolibrary.org/obo/MONDO_0024512 spondyloarthropathy, susceptibility to 'spondyloarthropathy, susceptibility to' SubClassOf 'inherited disease susceptibility' 'spondyloarthropathy, susceptibility to' SubClassOf 'predisposes towards' some 'spondyloarthropathy' 'spondyloarthropathy, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'spondyloarthropathy') http://purl.obolibrary.org/obo/MONDO_0000544 mucosal melanoma 'mucosal melanoma' SubClassOf 'Non-Cutaneous Melanoma' http://purl.obolibrary.org/obo/UBERON_0004153 ventricular septum intermedium 'ventricular septum intermedium' SubClassOf 'interventricular septum' http://purl.obolibrary.org/obo/MONDO_0024516 familial acne inversa 'familial acne inversa' SubClassOf 'genetic skin disease' 'familial acne inversa' SubClassOf 'hidradenitis suppurativa' 'familial acne inversa' EquivalentTo 'hidradenitis suppurativa' and ('has modifier' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0000548 ovarian clear cell cancer 'ovarian clear cell cancer' SubClassOf 'Malignant epithelial tumor of ovary' 'ovarian clear cell cancer' SubClassOf 'ovarian clear cell tumor' http://purl.obolibrary.org/obo/MONDO_0000551 retroperitoneal neuroblastoma 'retroperitoneal neuroblastoma' SubClassOf 'retroperitoneal germ cell neoplasm' 'retroperitoneal neuroblastoma' SubClassOf 'neuroblastoma' http://purl.obolibrary.org/obo/MONDO_0024501 appendix neuroendocrine neoplasm 'appendix neuroendocrine neoplasm' SubClassOf 'colon neuroendocrine neoplasm' 'appendix neuroendocrine neoplasm' SubClassOf 'appendiceal neoplasm' http://purl.obolibrary.org/obo/MONDO_0024500 duodenal neuroendocrine neoplasm 'duodenal neuroendocrine neoplasm' SubClassOf 'tumor of duodenum' 'duodenal neuroendocrine neoplasm' SubClassOf 'small intestine neuroendocrine tumor' http://purl.obolibrary.org/obo/MONDO_0024503 digestive system neuroendocrine neoplasm 'digestive system neuroendocrine neoplasm' SubClassOf 'gastroenteropancreatic neuroendocrine neoplasm' http://purl.obolibrary.org/obo/MONDO_0024502 gallbladder neuroendocrine neoplasm 'gallbladder neuroendocrine neoplasm' SubClassOf 'gallbladder neoplasm' 'gallbladder neuroendocrine neoplasm' SubClassOf 'gastroenteropancreatic neuroendocrine neoplasm' http://purl.obolibrary.org/obo/MONDO_0024505 disorder by anatomical region 'disorder by anatomical region' SubClassOf 'disease' http://purl.obolibrary.org/obo/MONDO_0000565 infective endocarditis 'infective endocarditis' SubClassOf 'infectious disease' 'infective endocarditis' SubClassOf 'endocarditis' http://purl.obolibrary.org/obo/MONDO_0000569 autoimmune disease of endocrine system 'autoimmune disease of endocrine system' SubClassOf 'endocrine system disease' 'autoimmune disease of endocrine system' SubClassOf 'type II hypersensitivity reaction disease' http://purl.obolibrary.org/obo/MONDO_0000568 autoimmune disease of central nervous system 'autoimmune disease of central nervous system' SubClassOf 'central nervous system disease' 'autoimmune disease of central nervous system' SubClassOf 'autoimmune disease of the nervous system' http://purl.obolibrary.org/obo/MONDO_0000577 congenital anemia 'congenital anemia' SubClassOf 'anemia (disease)' 'congenital anemia' SubClassOf 'congenital hematological disorder' 'congenital anemia' EquivalentTo 'anemia (disease)' and ('has modifier' some 'congenital') http://purl.obolibrary.org/obo/MONDO_0000589 autoimmune disease of musculoskeletal system 'autoimmune disease of musculoskeletal system' SubClassOf 'musculoskeletal system disease' 'autoimmune disease of musculoskeletal system' SubClassOf 'type II hypersensitivity reaction disease' http://purl.obolibrary.org/obo/MONDO_0000588 autoimmune disease of gastrointestinal tract 'autoimmune disease of gastrointestinal tract' SubClassOf 'type II hypersensitivity reaction disease' 'autoimmune disease of gastrointestinal tract' SubClassOf 'digestive system disease' http://purl.obolibrary.org/obo/MONDO_0000587 autoimmune disease of ear, nose and throat 'autoimmune disease of ear, nose and throat' SubClassOf 'type II hypersensitivity reaction disease' 'autoimmune disease of ear, nose and throat' SubClassOf 'otorhinolaryngologic disease' http://purl.obolibrary.org/obo/MONDO_0000586 autoimmune disease of exocrine system 'autoimmune disease of exocrine system' SubClassOf 'type II hypersensitivity reaction disease' http://purl.obolibrary.org/obo/MONDO_0000595 sexual disorder 'sexual disorder' SubClassOf 'psychiatric disorder' http://purl.obolibrary.org/obo/MONDO_0000594 pervasive developmental disorder 'specific developmental disorder' DisjointWith 'pervasive developmental disorder' 'pervasive developmental disorder' SubClassOf 'developmental disorder of mental health' 'pervasive developmental disorder' SubClassOf 'complex neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0000592 specific developmental disorder 'specific developmental disorder' DisjointWith 'pervasive developmental disorder' 'specific developmental disorder' SubClassOf 'developmental disorder of mental health' http://purl.obolibrary.org/obo/MONDO_0000591 intrinsic cardiomyopathy 'intrinsic cardiomyopathy' DisjointWith 'extrinsic cardiomyopathy' 'intrinsic cardiomyopathy' SubClassOf 'cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0000590 autoimmune disease of peripheral nervous system 'autoimmune disease of peripheral nervous system' SubClassOf 'autoimmune disease of the nervous system' 'autoimmune disease of peripheral nervous system' SubClassOf 'peripheral nervous system disease' http://purl.obolibrary.org/obo/UBERON_6007240 embryonic/larval sensillum 'embryonic/larval sensillum' SubClassOf 'sensillum' http://purl.obolibrary.org/obo/UBERON_6007242 embryonic/larval head sensillum 'embryonic/larval head sensillum' SubClassOf 'head sensillum' 'embryonic/larval head sensillum' SubClassOf 'embryonic/larval sensillum' http://purl.obolibrary.org/obo/MONDO_0024574 von Willebrand disease (hereditary or acquired) 'von Willebrand disease (hereditary or acquired)' SubClassOf 'coagulation protein disease' http://purl.obolibrary.org/obo/MONDO_0024573 familial hypertrophic cardiomyopathy 'familial hypertrophic cardiomyopathy' EquivalentTo 'hypertrophic cardiomyopathy' and ('has modifier' some 'inherited') 'familial hypertrophic cardiomyopathy' SubClassOf 'familial cardiomyopathy' 'familial hypertrophic cardiomyopathy' SubClassOf 'hypertrophic cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0024572 immunodeficiency-related disorder 'immunodeficiency-related disorder' SubClassOf 'immune system disease' http://purl.obolibrary.org/obo/UBERON_6007233 internal sensillum 'internal sensillum' SubClassOf 'sensillum' http://purl.obolibrary.org/obo/UBERON_6007231 external sensillum 'external sensillum' SubClassOf 'sensillum' http://purl.obolibrary.org/obo/UBERON_6007232 eo-type sensillum 'eo-type sensillum' SubClassOf 'external sensillum' http://purl.obolibrary.org/obo/MONDO_0012582 interstitial lung disease due to ABCA3 deficiency 'interstitial lung disease due to ABCA3 deficiency' SubClassOf 'Congenital pulmonary alveolar proteinosis' http://purl.obolibrary.org/obo/MONDO_0024582 male reproductive system neoplasm 'male reproductive system neoplasm' SubClassOf 'reproductive system neoplasm' 'male reproductive system neoplasm' SubClassOf 'male reproductive system disease' http://purl.obolibrary.org/obo/UBERON_2000564 pelvic abductor profundus 'pelvic abductor profundus' SubClassOf 'abductor muscle' 'pelvic abductor profundus' SubClassOf 'pelvic appendage muscle' http://purl.obolibrary.org/obo/MONDO_0024361 circadian rhythm sleep disorder 'circadian rhythm sleep disorder' SubClassOf 'Sleep Disorder' http://purl.obolibrary.org/obo/UBERON_2000557 preural 1 vertebra 'preural 1 vertebra' SubClassOf 'preural vertebra' http://purl.obolibrary.org/obo/MONDO_0024392 anaerobic balanitis 'anaerobic balanitis' SubClassOf 'balanitis' 'anaerobic balanitis' SubClassOf 'anaerobic bacteria infectious disease' 'anaerobic balanitis' EquivalentTo 'anaerobic bacteria infectious disease' and 'balanitis' http://purl.obolibrary.org/obo/MONDO_0024387 benign ovarian sex cord-stromal tumor 'benign ovarian sex cord-stromal tumor' SubClassOf 'ovarian benign neoplasm' 'benign ovarian sex cord-stromal tumor' SubClassOf 'ovarian sex cord-stromal tumor' http://purl.obolibrary.org/obo/MONDO_0024389 anaerobic bacteria infectious disease 'anaerobic bacteria infectious disease' SubClassOf 'bacterial disease' http://purl.obolibrary.org/obo/UBERON_2000592 superficial pelvic adductor 'superficial pelvic adductor' SubClassOf 'adductor muscle of hip' 'superficial pelvic adductor' SubClassOf 'pelvic appendage muscle' http://purl.obolibrary.org/obo/UBERON_2000594 supracleithrum 'supracleithrum' SubClassOf 'pectoral girdle bone' 'supracleithrum' SubClassOf 'dermal bone' http://purl.obolibrary.org/obo/UBERON_2000585 kinethmoid cartilage 'kinethmoid cartilage' SubClassOf 'cartilage element of chondrocranium' http://purl.obolibrary.org/obo/UBERON_2000586 preural 2 vertebra 'preural 2 vertebra' SubClassOf 'preural vertebra' http://purl.obolibrary.org/obo/UBERON_2000587 sphenotic 'sphenotic' SubClassOf 'endochondral bone' 'sphenotic' SubClassOf 'neurocranium bone' http://purl.obolibrary.org/obo/UBERON_2000576 pterotic 'pterotic' SubClassOf 'endochondral bone' 'pterotic' SubClassOf 'neurocranium bone' 'pterotic' SubClassOf 'dermal bone' http://purl.obolibrary.org/obo/UBERON_0018621 upper canine tooth 'upper canine tooth' SubClassOf 'tooth of upper jaw' 'upper canine tooth' SubClassOf 'cuspid' http://purl.obolibrary.org/obo/UBERON_0018623 lower secondary incisor tooth 'lower secondary incisor tooth' SubClassOf 'lower jaw incisor' 'lower secondary incisor tooth' SubClassOf 'secondary incisor tooth' 'lower secondary incisor tooth' SubClassOf 'permanent lower tooth' http://purl.obolibrary.org/obo/UBERON_0018622 lower canine tooth 'lower canine tooth' SubClassOf 'cuspid' 'lower canine tooth' SubClassOf 'tooth of lower jaw' http://purl.obolibrary.org/obo/UBERON_0006636 lumbar artery 'lumbar artery' SubClassOf 'abdominal aorta artery' http://purl.obolibrary.org/obo/UBERON_0006634 lingual vein 'lingual vein' SubClassOf 'vein' http://purl.obolibrary.org/obo/UBERON_0006632 musculo-phrenic artery 'musculo-phrenic artery' SubClassOf 'phrenic artery' http://purl.obolibrary.org/obo/UBERON_0006630 left atrium auricular region 'left atrium auricular region' SubClassOf 'atrial appendage' http://purl.obolibrary.org/obo/UBERON_0006631 right atrium auricular region 'right atrium auricular region' SubClassOf 'atrial appendage' http://purl.obolibrary.org/obo/UBERON_0006649 suspensory ligament of ovary 'suspensory ligament of ovary' SubClassOf 'suspensory ligament' 'suspensory ligament of ovary' DisjointWith 'ovarian ligament' http://purl.obolibrary.org/obo/UBERON_0018614 permanent lower tooth 'permanent lower tooth' SubClassOf 'secondary tooth' 'permanent lower tooth' SubClassOf 'tooth of lower jaw' http://purl.obolibrary.org/obo/UBERON_0018613 secondary upper tooth 'secondary upper tooth' SubClassOf 'tooth of upper jaw' 'secondary upper tooth' SubClassOf 'secondary tooth' http://purl.obolibrary.org/obo/UBERON_0018616 primary upper tooth 'primary upper tooth' SubClassOf 'tooth of upper jaw' 'primary upper tooth' SubClassOf 'deciduous tooth' http://purl.obolibrary.org/obo/UBERON_0018617 primary lower tooth 'primary lower tooth' SubClassOf 'deciduous tooth' 'primary lower tooth' SubClassOf 'tooth of lower jaw' http://purl.obolibrary.org/obo/UBERON_0018640 premolar 2 'premolar 2' SubClassOf 'premolar tooth' http://purl.obolibrary.org/obo/UBERON_0018647 premolar tooth 4 'premolar tooth 4' SubClassOf 'premolar tooth' http://purl.obolibrary.org/obo/UBERON_0018646 premolar tooth 5 'premolar tooth 5' SubClassOf 'premolar tooth' http://purl.obolibrary.org/obo/UBERON_0018648 upper premolar 4 'upper premolar 4' SubClassOf 'upper premolar tooth' 'upper premolar 4' SubClassOf 'premolar tooth 4' http://purl.obolibrary.org/obo/UBERON_0018643 deciduous molar tooth 2 'deciduous molar tooth 2' SubClassOf 'molar tooth 2' 'deciduous molar tooth 2' SubClassOf 'primary molar tooth' http://purl.obolibrary.org/obo/UBERON_0018644 deciduous molar tooth 1 'deciduous molar tooth 1' SubClassOf 'primary molar tooth' 'deciduous molar tooth 1' SubClassOf 'molar tooth 1' http://purl.obolibrary.org/obo/UBERON_0006658 interphalangeal joint 'interphalangeal joint' SubClassOf 'synovial limb joint' 'interphalangeal joint' SubClassOf 'autopod joint' http://purl.obolibrary.org/obo/UBERON_0006659 cruciate ligament of knee 'cruciate ligament of knee' SubClassOf 'ligament of knee joint' 'cruciate ligament of knee' DisjointWith 'cruciate ligament of atlas' http://purl.obolibrary.org/obo/UBERON_0006656 deep dorsal vein of penis 'deep dorsal vein of penis' SubClassOf 'deep vein' http://purl.obolibrary.org/obo/UBERON_0006662 musculo-phrenic vein 'musculo-phrenic vein' SubClassOf 'phrenic vein' 'musculo-phrenic vein' SubClassOf 'thoracic vein' http://purl.obolibrary.org/obo/UBERON_0004008 cerebellar plate 'cerebellar plate' SubClassOf 'unilaminar epithelium' 'cerebellar plate' SubClassOf 'ecto-epithelium' http://purl.obolibrary.org/obo/UBERON_0006665 accessory hemiazygos vein 'accessory hemiazygos vein' SubClassOf 'vein' http://purl.obolibrary.org/obo/UBERON_0006666 great cerebral vein 'great cerebral vein' SubClassOf 'cerebral vein' http://purl.obolibrary.org/obo/UBERON_0006663 hemiazygos vein 'hemiazygos vein' SubClassOf 'vein' http://purl.obolibrary.org/obo/UBERON_0006664 greater palatine artery 'greater palatine artery' SubClassOf 'artery' http://purl.obolibrary.org/obo/UBERON_0006605 tectum synoticum 'tectum synoticum' SubClassOf 'cartilage element of chondrocranium' http://purl.obolibrary.org/obo/UBERON_0006606 mandibular symphysis 'mandibular symphysis' SubClassOf 'symphysis' http://purl.obolibrary.org/obo/UBERON_0006604 lamina orbitonasalis 'lamina orbitonasalis' SubClassOf 'cartilage element of chondrocranium' http://purl.obolibrary.org/obo/UBERON_0006616 right external ear 'right external ear' SubClassOf 'external ear' http://purl.obolibrary.org/obo/UBERON_0006617 left external ear 'left external ear' SubClassOf 'external ear' http://purl.obolibrary.org/obo/UBERON_0018603 upper central incisor tooth 'upper central incisor tooth' SubClassOf 'central incisor tooth' 'upper central incisor tooth' SubClassOf 'upper jaw incisor' http://purl.obolibrary.org/obo/UBERON_0018602 lower lateral incisor tooth 'lower lateral incisor tooth' SubClassOf 'lateral incisor tooth' 'lower lateral incisor tooth' SubClassOf 'lower jaw incisor' http://purl.obolibrary.org/obo/UBERON_0018604 upper lateral incisor tooth 'upper lateral incisor tooth' SubClassOf 'upper jaw incisor' 'upper lateral incisor tooth' SubClassOf 'lateral incisor tooth' http://purl.obolibrary.org/obo/UBERON_0018601 lower central incisor tooth 'lower central incisor tooth' SubClassOf 'central incisor tooth' 'lower central incisor tooth' SubClassOf 'lower jaw incisor' http://purl.obolibrary.org/obo/UBERON_0018600 lower second primary molar tooth 'lower second primary molar tooth' SubClassOf 'lower primary molar tooth' 'lower second primary molar tooth' SubClassOf 'deciduous molar tooth 2' http://purl.obolibrary.org/obo/UBERON_0018607 permanent molar tooth 2 'permanent molar tooth 2' SubClassOf 'molar tooth 2' 'permanent molar tooth 2' SubClassOf 'secondary molar tooth' http://purl.obolibrary.org/obo/UBERON_0018606 molar tooth 2 'molar tooth 2' SubClassOf 'molar tooth' http://purl.obolibrary.org/obo/UBERON_0018608 permanent molar tooth 1 'permanent molar tooth 1' SubClassOf 'molar tooth 1' 'permanent molar tooth 1' SubClassOf 'secondary molar tooth' http://purl.obolibrary.org/obo/UBERON_0006615 venous sinus 'venous sinus' SubClassOf 'venous blood vessel' http://purl.obolibrary.org/obo/UBERON_0004057 skeletal muscle fiber triad 'skeletal muscle fiber triad' SubClassOf 'skeletal muscle tissue' http://purl.obolibrary.org/obo/UBERON_0004056 primitive groove 'primitive groove' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0004063 spinal cord alar plate 'spinal cord alar plate' SubClassOf 'neural tube alar plate' http://purl.obolibrary.org/obo/UBERON_0004066 frontonasal prominence 'frontonasal prominence' SubClassOf 'embryonic nasal process' http://purl.obolibrary.org/obo/UBERON_0004060 neural tube ventricular layer 'neural tube ventricular layer' SubClassOf 'ecto-epithelium' 'neural tube ventricular layer' SubClassOf 'proliferating neuroepithelium' http://purl.obolibrary.org/obo/UBERON_0004061 neural tube mantle layer 'neural tube mantle layer' SubClassOf 'ecto-epithelium' 'neural tube mantle layer' SubClassOf 'differentiating neuroepithelium' http://purl.obolibrary.org/obo/UBERON_0004085 labium majora 'labium majora' SubClassOf 'genital labium' http://purl.obolibrary.org/obo/UBERON_0004087 vena cava 'vena cava' SubClassOf 'great vessel of heart' 'vena cava' SubClassOf 'thoracic cavity vein' http://purl.obolibrary.org/obo/UBERON_0004084 genital labium 'genital labium' SubClassOf 'zone of skin' http://purl.obolibrary.org/obo/UBERON_0006671 orbital fat pad 'orbital fat pad' SubClassOf 'fat pad' http://purl.obolibrary.org/obo/UBERON_0004014 labium minora 'labium minora' SubClassOf 'genital labium' http://purl.obolibrary.org/obo/UBERON_0018650 annelid peristomium 'annelid peristomium' SubClassOf 'organismal segment' http://purl.obolibrary.org/obo/MONDO_0000413 infancy electroclinical syndrome 'infancy electroclinical syndrome' SubClassOf 'electroclinical syndrome' http://purl.obolibrary.org/obo/MONDO_0000412 neonatal period electroclinical syndrome 'neonatal period electroclinical syndrome' SubClassOf 'electroclinical syndrome' http://purl.obolibrary.org/obo/MONDO_0000411 electroclinical syndrome 'electroclinical syndrome' SubClassOf 'epilepsy' http://purl.obolibrary.org/obo/UBERON_0018656 puparium 'puparium' SubClassOf 'chitin-based cuticle' http://purl.obolibrary.org/obo/UBERON_0004022 germinal neuroepithelium 'germinal neuroepithelium' SubClassOf 'proliferating neuroepithelium' 'germinal neuroepithelium' DisjointWith 'sensory epithelium' 'germinal neuroepithelium' SubClassOf 'ecto-epithelium' http://purl.obolibrary.org/obo/UBERON_0004021 spongiotrophoblast layer 'spongiotrophoblast layer' SubClassOf 'extraembryonic tissue' http://purl.obolibrary.org/obo/UBERON_0006680 trachealis 'trachealis' SubClassOf 'smooth muscle of trachea' http://purl.obolibrary.org/obo/UBERON_0004027 chorionic plate 'chorionic plate' SubClassOf 'extraembryonic tissue' http://purl.obolibrary.org/obo/MONDO_0000415 adolescence-adult electroclinical syndrome 'adolescence-adult electroclinical syndrome' SubClassOf 'electroclinical syndrome' http://purl.obolibrary.org/obo/UBERON_0006689 frenulum of tongue 'frenulum of tongue' SubClassOf 'mucosa of tongue' 'frenulum of tongue' SubClassOf 'oral frenulum' http://purl.obolibrary.org/obo/MONDO_0000414 childhood electroclinical syndrome 'childhood electroclinical syndrome' SubClassOf 'electroclinical syndrome' http://purl.obolibrary.org/obo/UBERON_0004029 canal of Schlemm 'canal of Schlemm' SubClassOf 'craniocervical region vein' 'canal of Schlemm' SubClassOf 'head blood vessel' http://purl.obolibrary.org/obo/UBERON_0004024 medial ganglionic eminence 'medial ganglionic eminence' DisjointWith 'lateral ganglionic eminence' 'medial ganglionic eminence' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0006687 median sacral vein 'median sacral vein' SubClassOf 'vein' http://purl.obolibrary.org/obo/UBERON_0004023 ganglionic eminence 'ganglionic eminence' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0004025 lateral ganglionic eminence 'medial ganglionic eminence' DisjointWith 'lateral ganglionic eminence' 'lateral ganglionic eminence' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0006686 spinal vein 'spinal vein' SubClassOf 'vein' http://purl.obolibrary.org/obo/UBERON_0018683 lumbar splanchnic nerve 'lumbar splanchnic nerve' SubClassOf 'splanchnic nerve' http://purl.obolibrary.org/obo/UBERON_0018684 sacral splanchnic nerve 'sacral splanchnic nerve' SubClassOf 'splanchnic nerve' http://purl.obolibrary.org/obo/MONDO_0000424 inborn vitamin B12 deficiency (disease) 'inborn vitamin B12 deficiency (disease)' SubClassOf 'vitamin metabolic disorder' 'inborn vitamin B12 deficiency (disease)' SubClassOf 'vitamin B12 deficiency' http://purl.obolibrary.org/obo/UBERON_0018681 lesser splanchnic nerve 'lesser splanchnic nerve' SubClassOf 'thoracic splanchnic nerve' http://purl.obolibrary.org/obo/MONDO_0000421 inborn serine deficiency 'inborn serine deficiency' SubClassOf 'Disorder of serine or glycine metabolism' http://purl.obolibrary.org/obo/UBERON_0018680 greater splanchnic nerve 'greater splanchnic nerve' SubClassOf 'thoracic splanchnic nerve' http://purl.obolibrary.org/obo/UBERON_0018689 crural feather 'crural feather' SubClassOf 'hindlimb feather' http://purl.obolibrary.org/obo/UBERON_0018688 hindlimb feather 'hindlimb feather' SubClassOf 'feather' http://purl.obolibrary.org/obo/UBERON_0006694 cerebellum vasculature 'cerebellum vasculature' SubClassOf 'vasculature of central nervous system' 'cerebellum vasculature' SubClassOf 'vasculature of organ' http://purl.obolibrary.org/obo/UBERON_0004031 head ectomesenchyme 'head ectomesenchyme' SubClassOf 'mesenchyme derived from head neural crest' http://purl.obolibrary.org/obo/UBERON_0004030 aqueous vein 'aqueous vein' SubClassOf 'head blood vessel' 'aqueous vein' SubClassOf 'craniocervical region vein' http://purl.obolibrary.org/obo/UBERON_0006690 deep dorsal vein of clitoris 'deep dorsal vein of clitoris' SubClassOf 'deep vein' 'deep dorsal vein of clitoris' SubClassOf 'vein of clitoris' http://purl.obolibrary.org/obo/MONDO_0000426 autosomal dominant disease 'X-linked disease' DisjointWith 'autosomal dominant disease' 'autosomal dominant disease' SubClassOf 'autosomal genetic disease' 'autosomal dominant disease' DisjointWith 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0000425 X-linked disease 'X-linked disease' DisjointWith 'autosomal dominant disease' 'X-linked disease' DisjointWith 'autosomal recessive disease' 'X-linked disease' SubClassOf 'sex-linked disease' http://purl.obolibrary.org/obo/MONDO_0000429 autosomal genetic disease 'autosomal genetic disease' SubClassOf 'monogenic disease' http://purl.obolibrary.org/obo/MONDO_0000430 mature T-cell and NK-cell non-Hodgkin lymphoma 'mature T-cell and NK-cell non-Hodgkin lymphoma' EquivalentTo 'T-cell non-Hodgkin lymphoma' and 'neoplasm of mature T-cells or NK-cells' 'mature T-cell and NK-cell non-Hodgkin lymphoma' SubClassOf 'T-cell non-Hodgkin lymphoma' 'mature T-cell and NK-cell non-Hodgkin lymphoma' SubClassOf 'neoplasm of mature T-cells or NK-cells' http://purl.obolibrary.org/obo/UBERON_0018674 heart vasculature 'heart vasculature' SubClassOf 'vasculature of organ' 'heart vasculature' SubClassOf 'vasculature of trunk' http://purl.obolibrary.org/obo/UBERON_0018679 thoracic splanchnic nerve 'thoracic splanchnic nerve' SubClassOf 'nerve of thoracic segment' 'thoracic splanchnic nerve' SubClassOf 'splanchnic nerve' http://purl.obolibrary.org/obo/UBERON_0018675 pelvic splanchnic nerve 'pelvic splanchnic nerve' SubClassOf 'splanchnic nerve' 'pelvic splanchnic nerve' SubClassOf 'parasympathetic nerve' http://purl.obolibrary.org/obo/UBERON_0004042 spleen secondary B follicle 'spleen secondary B follicle' SubClassOf 'secondary nodular lymphoid tissue' 'spleen secondary B follicle' SubClassOf 'spleen lymphoid follicle' http://purl.obolibrary.org/obo/UBERON_0004041 spleen primary B follicle 'spleen primary B follicle' SubClassOf 'spleen lymphoid follicle' 'spleen primary B follicle' SubClassOf 'primary nodular lymphoid tissue' http://purl.obolibrary.org/obo/UBERON_0004044 anterior visceral endoderm 'anterior visceral endoderm' SubClassOf 'visceral endoderm' http://purl.obolibrary.org/obo/MONDO_0000437 cerebellar ataxia 'cerebellar ataxia' SubClassOf 'cerebellar disease' 'cerebellar ataxia' SubClassOf 'movement disorder' 'cerebellar ataxia' SubClassOf 'Rare genetic tremor disorder' 'cerebellar ataxia' SubClassOf 'Genetic syndrome with a cerebellar malformation as major feature' 'cerebellar ataxia' SubClassOf 'Rare genetic movement disorder' http://purl.obolibrary.org/obo/UBERON_0004046 anterior definitive endoderm 'anterior definitive endoderm' SubClassOf 'hypoblast (generic)' http://purl.obolibrary.org/obo/MONDO_0024414 anaerobic cellulitis 'anaerobic cellulitis' SubClassOf 'cellulitis' 'anaerobic cellulitis' SubClassOf 'anaerobic bacteria infectious disease' 'anaerobic cellulitis' EquivalentTo 'anaerobic bacteria infectious disease' and 'cellulitis' http://purl.obolibrary.org/obo/MONDO_0024417 perceptual disorders 'perceptual disorders' SubClassOf 'nervous system disease' http://purl.obolibrary.org/obo/MONDO_0024419 enthesitis 'enthesitis' SubClassOf 'inflammatory disease' 'enthesitis' SubClassOf 'enthesopathy' http://purl.obolibrary.org/obo/MONDO_0000447 congenital polycystic liver disease 'congenital polycystic liver disease' SubClassOf 'autosomal dominant disease' 'congenital polycystic liver disease' SubClassOf 'liver disease' http://purl.obolibrary.org/obo/MONDO_0000456 cerebral creatine deficiency syndrome 'cerebral creatine deficiency syndrome' SubClassOf 'inherited amino acid metabolic disorder' 'cerebral creatine deficiency syndrome' SubClassOf 'metabolic epilepsy' 'cerebral creatine deficiency syndrome' SubClassOf 'energy metabolism disorder with epilepsy' 'cerebral creatine deficiency syndrome' SubClassOf 'Cerebral organic aciduria' http://purl.obolibrary.org/obo/MONDO_0024431 bilirubin metabolism disease 'bilirubin metabolism disease' SubClassOf 'nutritional or metabolic disease' 'bilirubin metabolism disease' SubClassOf 'metabolic disease' http://purl.obolibrary.org/obo/MONDO_0000461 nutritional biotin deficiency 'nutritional biotin deficiency' SubClassOf 'vitamin deficiency disorder' 'nutritional biotin deficiency' SubClassOf 'biotin metabolic disease' http://purl.obolibrary.org/obo/MONDO_0000465 atrioventricular block (disease) 'atrioventricular block (disease)' SubClassOf 'atrioventricular dissociation (disease)' 'atrioventricular block (disease)' SubClassOf 'heart conduction disease' http://www.ebi.ac.uk/efo/EFO_0009804 pulse wave reflection index measurement 'pulse wave reflection index measurement' SubClassOf 'cardiovascular measurement' http://www.ebi.ac.uk/efo/EFO_0009805 whole body water mass 'whole body water mass' SubClassOf 'anthropometric measurement' http://www.ebi.ac.uk/efo/EFO_0009806 total hip arthroplasty 'total hip arthroplasty' SubClassOf 'medical procedure' http://www.ebi.ac.uk/efo/EFO_0009807 cadaver dissection 'cadaver dissection' SubClassOf 'collecting specimen from organ postmortem' 'cadaver dissection' SubClassOf 'dissection' http://www.ebi.ac.uk/efo/EFO_0009800 number of cancers, self-reported 'number of cancers, self-reported' SubClassOf 'self-reported trait' http://www.ebi.ac.uk/efo/EFO_0009801 number of non-cancer illnesses, self-reported 'number of non-cancer illnesses, self-reported' SubClassOf 'self-reported trait' http://www.ebi.ac.uk/efo/EFO_0009802 number of operations, self-reported 'number of operations, self-reported' SubClassOf 'self-reported trait' http://www.ebi.ac.uk/efo/EFO_0009803 number of treatments or medications taken, self-reported 'number of treatments or medications taken, self-reported' SubClassOf 'self-reported trait' http://www.ebi.ac.uk/efo/EFO_0009808 immunosurgery 'immunosurgery' SubClassOf 'collecting specimen from organism' http://www.ebi.ac.uk/efo/EFO_0009809 single nucleus sequencing 'single nucleus sequencing' SubClassOf 'transcription profiling by high throughput sequencing' 'single nucleus sequencing' SubClassOf 'has_input' some 'nucleus' http://purl.obolibrary.org/obo/MONDO_0000469 sinoatrial node disease 'sinoatrial node disease' SubClassOf 'conduction system disorder' 'sinoatrial node disease' SubClassOf 'heart conduction disease' http://purl.obolibrary.org/obo/MONDO_0000474 pericardium disease 'pericardium disease' SubClassOf 'cardiovascular disease' 'pericardium disease' SubClassOf 'thoracic disease' http://purl.obolibrary.org/obo/MONDO_0000473 arterial disorder 'arterial disorder' SubClassOf 'vascular disease' http://purl.obolibrary.org/obo/MONDO_0000478 multifocal dystonia 'multifocal dystonia' SubClassOf 'dystonic disorder' http://purl.obolibrary.org/obo/MONDO_0000477 focal dystonia 'focal dystonia' SubClassOf 'dystonic disorder' http://purl.obolibrary.org/obo/MONDO_0000476 generalized dystonia 'generalized dystonia' SubClassOf 'dystonic disorder' http://purl.obolibrary.org/obo/MONDO_0000470 endocardium disease 'endocardium disease' SubClassOf 'heart disease' http://purl.obolibrary.org/obo/MONDO_0000486 craniofacial dystonia 'craniofacial dystonia' SubClassOf 'focal dystonia' http://purl.obolibrary.org/obo/MONDO_0000489 diabetic encephalopathy 'diabetic encephalopathy' EquivalentTo 'brain disease' and ('disease arises from feature' some 'diabetes mellitus') 'diabetic encephalopathy' SubClassOf 'brain disease' 'diabetic encephalopathy' SubClassOf 'disease arises from feature' some 'diabetes mellitus' http://purl.obolibrary.org/obo/MONDO_0024458 disease of visual system 'disease of visual system' SubClassOf 'sensory system disease' http://purl.obolibrary.org/obo/UBERON_2000522 inferior hyohyoid 'inferior hyohyoid' SubClassOf 'hyoid muscle' http://purl.obolibrary.org/obo/UBERON_0004092 hypothalamus-pituitary axis 'hypothalamus-pituitary axis' SubClassOf 'anatomical system' http://purl.obolibrary.org/obo/UBERON_2000525 intercalarium 'intercalarium' SubClassOf 'vertebral arch of axis' http://purl.obolibrary.org/obo/UBERON_2000526 intermuscular bone 'intermuscular bone' SubClassOf 'endochondral bone' http://purl.obolibrary.org/obo/UBERON_2000527 pharyngobranchial bone 'pharyngobranchial bone' SubClassOf 'endochondral bone' http://purl.obolibrary.org/obo/UBERON_2000528 interradialis 'interradialis' SubClassOf 'skeletal muscle organ' http://www.ebi.ac.uk/efo/EFO_0009810 full length single nucleus RNA sequencing 'full length single nucleus RNA sequencing' SubClassOf 'single nucleus sequencing' http://www.ebi.ac.uk/efo/EFO_0009811 tag based single nucleus RNA sequencing 'tag based single nucleus RNA sequencing' SubClassOf 'single nucleus sequencing' http://purl.obolibrary.org/obo/MONDO_0000490 glomerulosclerosis 'glomerulosclerosis' SubClassOf 'disease causes feature' some 'kidney failure' 'glomerulosclerosis' SubClassOf 'glomerular disease' http://purl.obolibrary.org/obo/UBERON_2000510 external levatores 'external levatores' SubClassOf 'branchial muscle' http://purl.obolibrary.org/obo/MONDO_0024474 intraepithelial neoplasia 'intraepithelial neoplasia' SubClassOf 'precancerous condition' 'intraepithelial neoplasia' SubClassOf 'epithelial neoplasm' http://purl.obolibrary.org/obo/MONDO_0024477 liver and intrahepatic bile duct neoplasm 'liver and intrahepatic bile duct neoplasm' SubClassOf 'Hepatobiliary Neoplasm' http://purl.obolibrary.org/obo/MONDO_0024476 epithelial neoplasm of rectum 'epithelial neoplasm of rectum' SubClassOf 'rectal neoplasm' 'epithelial neoplasm of rectum' SubClassOf 'epithelial neoplasm' http://purl.obolibrary.org/obo/MONDO_0024479 epithelial tumor of colon 'epithelial tumor of colon' SubClassOf 'colonic neoplasm' 'epithelial tumor of colon' SubClassOf 'epithelial neoplasm' http://purl.obolibrary.org/obo/MONDO_0024478 mesenchymal hamartoma 'mesenchymal hamartoma' SubClassOf 'hamartoma' http://purl.obolibrary.org/obo/MONDO_0024470 benign chondrogenic neoplasm 'benign chondrogenic neoplasm' SubClassOf 'chondrogenic neoplasm' 'benign chondrogenic neoplasm' SubClassOf 'benign neoplasm' http://purl.obolibrary.org/obo/UBERON_2000500 dorsal erector muscle 'dorsal erector muscle' SubClassOf 'erector muscle' http://purl.obolibrary.org/obo/UBERON_2000503 dorsal oblique branchial muscle 'dorsal oblique branchial muscle' SubClassOf 'branchial muscle' http://purl.obolibrary.org/obo/UBERON_2000504 dorsal retractor 'dorsal retractor' SubClassOf 'branchial muscle' http://purl.obolibrary.org/obo/UBERON_2000507 epineural 'epineural' SubClassOf 'intermuscular bone' http://purl.obolibrary.org/obo/UBERON_2000508 pelvic fin radial bone 'pelvic fin radial bone' SubClassOf 'bone of pelvic complex' 'pelvic fin radial bone' SubClassOf 'paired fin radial bone' http://purl.obolibrary.org/obo/MONDO_0024468 anterior pituitary gland disease 'anterior pituitary gland disease' SubClassOf 'pituitary gland disease' http://purl.obolibrary.org/obo/MONDO_0024469 chondrogenic neoplasm 'chondrogenic neoplasm' SubClassOf 'mesenchymal cell neoplasm' http://purl.obolibrary.org/obo/MONDO_0024462 familial cutaneous melanoma 'familial cutaneous melanoma' SubClassOf 'Familial melanoma' 'familial cutaneous melanoma' EquivalentTo 'cutaneous melanoma' and ('has modifier' some 'inherited') 'familial cutaneous melanoma' SubClassOf 'cutaneous melanoma' http://purl.obolibrary.org/obo/MONDO_0024255 genetic skin disease 'genetic skin disease' EquivalentTo 'skin disease' and ('has modifier' some 'inherited') 'genetic skin disease' SubClassOf 'skin disease' 'genetic skin disease' SubClassOf 'inherited genetic disease' http://purl.obolibrary.org/obo/UBERON_2000442 supraneural bone 'supraneural bone' SubClassOf 'endochondral bone' http://purl.obolibrary.org/obo/MONDO_0024247 benign eccrine neoplasm 'benign eccrine neoplasm' SubClassOf 'benign neoplasm of sweat gland' 'benign eccrine neoplasm' SubClassOf 'eccrine sweat gland neoplasm' http://purl.obolibrary.org/obo/MONDO_0024240 eccrine carcinoma 'eccrine carcinoma' SubClassOf 'eccrine sweat gland cancer' 'eccrine carcinoma' SubClassOf 'sweat gland carcinoma' http://purl.obolibrary.org/obo/UBERON_2000438 parhypural 'parhypural' SubClassOf 'fin bone' 'parhypural' SubClassOf 'hemal spine' http://purl.obolibrary.org/obo/UBERON_2000439 superficial pelvic abductor 'superficial pelvic abductor' SubClassOf 'pelvic appendage muscle' 'superficial pelvic abductor' SubClassOf 'abductor muscle' http://purl.obolibrary.org/obo/MONDO_0024276 glandular cell neoplasm 'glandular cell neoplasm' SubClassOf 'epithelial neoplasm' http://www.ebi.ac.uk/efo/EFO_0009764 eye colour measurement 'eye colour measurement' SubClassOf 'eye measurement' http://www.ebi.ac.uk/efo/EFO_0009765 alanine measurement 'alanine measurement' SubClassOf 'is_about' some 'alanine' 'alanine measurement' SubClassOf 'amino acid measurement' http://www.ebi.ac.uk/efo/EFO_0009766 asparagine measurement 'asparagine measurement' SubClassOf 'amino acid measurement' 'asparagine measurement' SubClassOf 'is_about' some 'asparagine' http://www.ebi.ac.uk/efo/EFO_0009761 periprosthetic osteolysis 'periprosthetic osteolysis' SubClassOf 'has_disease_location' some ('bone' or ('part_of' some 'bone')) 'periprosthetic osteolysis' SubClassOf 'bone disease' http://www.ebi.ac.uk/efo/EFO_0009762 healthspan 'healthspan' SubClassOf 'is_about' some 'aging' 'healthspan' SubClassOf 'temporal measurement' http://purl.obolibrary.org/obo/MONDO_0024271 intestinal helminthiasis 'intestinal helminthiasis' SubClassOf 'Helminthiasis' 'intestinal helminthiasis' SubClassOf 'parasitic intestinal disease' http://www.ebi.ac.uk/efo/EFO_0009767 glycine measurement 'glycine measurement' SubClassOf 'amino acid measurement' 'glycine measurement' SubClassOf 'is_about' some 'glycine' http://www.ebi.ac.uk/efo/EFO_0009768 glutamine measurement 'glutamine measurement' SubClassOf 'amino acid measurement' 'glutamine measurement' SubClassOf 'is_about' some 'glutamine' http://purl.obolibrary.org/obo/MONDO_0024275 amebic dysentery 'amebic dysentery' SubClassOf 'protozoal dysentery' 'amebic dysentery' SubClassOf 'amebiasis' 'amebic dysentery' EquivalentTo 'amebiasis' and 'dysentery' http://www.ebi.ac.uk/efo/EFO_0009769 histidine measurement 'histidine measurement' SubClassOf 'is_about' some 'histidine' 'histidine measurement' SubClassOf 'amino acid measurement' http://purl.obolibrary.org/obo/MONDO_0012287 Stickler syndrome, type I, nonsyndromic ocular 'Stickler syndrome, type I, nonsyndromic ocular' SubClassOf 'Stickler syndrome type 1' http://purl.obolibrary.org/obo/UBERON_2000429 scaphium 'scaphium' SubClassOf 'neural arch' http://purl.obolibrary.org/obo/MONDO_0024268 superficial mycosis 'superficial mycosis' SubClassOf 'cutaneous mycosis' http://www.ebi.ac.uk/efo/EFO_0009756 autoimmune type 1 diabetes 'autoimmune type 1 diabetes' SubClassOf 'type I diabetes mellitus' http://www.ebi.ac.uk/efo/EFO_0009757 idiopathic type 1 diabetes 'idiopathic type 1 diabetes' SubClassOf 'type I diabetes mellitus' http://www.ebi.ac.uk/efo/EFO_0009758 fulminant type 1 diabetes 'fulminant type 1 diabetes' SubClassOf 'idiopathic type 1 diabetes' http://purl.obolibrary.org/obo/MONDO_0024263 neonatal aspiration syndrome 'neonatal aspiration syndrome' SubClassOf 'syndromic disease' 'neonatal aspiration syndrome' SubClassOf 'lung disease' http://purl.obolibrary.org/obo/UBERON_2000410 postcleithrum 'postcleithrum' SubClassOf 'dermal bone' 'postcleithrum' SubClassOf 'pectoral girdle bone' http://purl.obolibrary.org/obo/UBERON_2000411 posterior crista primordium 'posterior crista primordium' SubClassOf 'epithelium of posterior semicircular canal' 'posterior crista primordium' SubClassOf 'epithelium of otic placode' http://purl.obolibrary.org/obo/MONDO_0024299 vitamin D-dependent rickets 'vitamin D-dependent rickets' SubClassOf 'disease of signal transduction' 'vitamin D-dependent rickets' SubClassOf 'rickets' http://www.ebi.ac.uk/efo/EFO_0009785 remission 'remission' SubClassOf 'disease staging' http://purl.obolibrary.org/obo/MONDO_0024298 vitamin deficiency disorder 'vitamin deficiency disorder' SubClassOf 'nutritional deficiency disease' http://www.ebi.ac.uk/efo/EFO_0009786 encounter with health service 'encounter with health service' SubClassOf 'event' http://www.ebi.ac.uk/efo/EFO_0009787 encounter with health service related to reproduction 'encounter with health service related to reproduction' SubClassOf 'encounter with health service' http://www.ebi.ac.uk/efo/EFO_0009788 encounter with health service related to socioeconomic and psychosocial circumstances 'encounter with health service related to socioeconomic and psychosocial circumstances' SubClassOf 'encounter with health service' http://www.ebi.ac.uk/efo/EFO_0009781 progesterone-receptor negative breast cancer 'progesterone-receptor negative breast cancer' SubClassOf 'Breast Carcinoma by Gene Expression Profile' 'progesterone-receptor negative breast cancer' SubClassOf 'breast carcinoma' http://www.ebi.ac.uk/efo/EFO_0009782 progesterone-receptor positive breast cancer 'progesterone-receptor positive breast cancer' SubClassOf 'breast carcinoma' http://www.ebi.ac.uk/efo/EFO_0009783 carotid atherosclerosis 'carotid atherosclerosis' SubClassOf 'atherosclerosis' 'carotid atherosclerosis' SubClassOf 'carotid artery disease' http://www.ebi.ac.uk/efo/EFO_0009784 central serous retinopathy 'central serous retinopathy' SubClassOf 'retinopathy' http://purl.obolibrary.org/obo/MONDO_0024292 gastrointestinal polyp 'gastrointestinal polyp' SubClassOf 'polyp' 'gastrointestinal polyp' SubClassOf 'digestive system neoplasm' http://purl.obolibrary.org/obo/MONDO_0024295 skin disease caused by bacterial infection 'skin disease caused by bacterial infection' SubClassOf 'bacterial disease' 'skin disease caused by bacterial infection' SubClassOf 'skin disease caused by infection' http://www.ebi.ac.uk/efo/EFO_0009789 encounter with health service related to previous surgical history 'encounter with health service related to previous surgical history' SubClassOf 'encounter with health service' http://purl.obolibrary.org/obo/MONDO_0024294 skin disease caused by infection 'skin disease caused by infection' SubClassOf 'infectious disease' 'skin disease caused by infection' SubClassOf 'skin disease' http://purl.obolibrary.org/obo/UBERON_2000484 celiacomesenteric artery 'celiacomesenteric artery' SubClassOf 'artery' http://purl.obolibrary.org/obo/MONDO_0024297 nutritional or metabolic disease 'nutritional or metabolic disease' SubClassOf 'disease by cellular process disrupted' 'nutritional or metabolic disease' EquivalentTo 'metabolic disease' or 'nutritional disorder' http://purl.obolibrary.org/obo/MONDO_0024296 vascular neoplasm 'vascular neoplasm' SubClassOf 'cardiovascular neoplasm' http://purl.obolibrary.org/obo/UBERON_2000488 ceratobranchial bone 'ceratobranchial bone' SubClassOf 'endochondral bone' http://www.ebi.ac.uk/efo/EFO_0009790 asparaginase activity measurement 'asparaginase activity measurement' SubClassOf 'is_about' some 'asparaginase hypersensitivity' 'asparaginase activity measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0009791 fatty acid desaturase enzyme activity measurement 'fatty acid desaturase enzyme activity measurement' SubClassOf 'measurement' http://www.ebi.ac.uk/efo/EFO_0009774 serine measurement 'serine measurement' SubClassOf 'amino acid measurement' 'serine measurement' SubClassOf 'is_about' some 'serine' http://www.ebi.ac.uk/efo/EFO_0009775 threonine measurement 'threonine measurement' SubClassOf 'amino acid measurement' 'threonine measurement' SubClassOf 'is_about' some 'threonine' http://www.ebi.ac.uk/efo/EFO_0009776 ornithine measurement 'ornithine measurement' SubClassOf 'is_about' some 'ornithine' 'ornithine measurement' SubClassOf 'amino acid measurement' http://www.ebi.ac.uk/efo/EFO_0009777 citrulline measurement 'citrulline measurement' SubClassOf 'amino acid measurement' 'citrulline measurement' SubClassOf 'is_about' some 'citrulline' http://www.ebi.ac.uk/efo/EFO_0009770 leucine measurement 'leucine measurement' SubClassOf 'is_about' some 'leucine' 'leucine measurement' SubClassOf 'amino acid measurement' http://www.ebi.ac.uk/efo/EFO_0009771 methionine measurement 'methionine measurement' SubClassOf 'amino acid measurement' 'methionine measurement' SubClassOf 'is_about' some 'methionine' http://www.ebi.ac.uk/efo/EFO_0009773 proline measurement 'proline measurement' SubClassOf 'is_about' some 'L-proline' 'proline measurement' SubClassOf 'amino acid measurement' http://purl.obolibrary.org/obo/MONDO_0024282 mucinous ovarian cancer 'mucinous ovarian cancer' SubClassOf 'ovarian mucinous neoplasm' 'mucinous ovarian cancer' SubClassOf 'Malignant epithelial tumor of ovary' http://www.ebi.ac.uk/efo/EFO_0009778 tri-iodothyronine measurement 'tri-iodothyronine measurement' SubClassOf 'hormone measurement' http://www.ebi.ac.uk/efo/EFO_0009779 tri-iodothyronine/thyroxine ratio measurement 'tri-iodothyronine/thyroxine ratio measurement' SubClassOf 'hormone measurement' http://purl.obolibrary.org/obo/MONDO_0024286 benign blood vessel neoplasm 'benign blood vessel neoplasm' SubClassOf 'blood vessel neoplasm' 'benign blood vessel neoplasm' SubClassOf 'cardiovascular organ benign neoplasm' http://purl.obolibrary.org/obo/UBERON_2000474 intercalar 'intercalar' SubClassOf 'membrane bone' 'intercalar' SubClassOf 'neurocranium bone' http://purl.obolibrary.org/obo/UBERON_2000476 branchiostegal ray 'branchiostegal ray' SubClassOf 'dermal bone' http://www.ebi.ac.uk/efo/EFO_0009780 HER2 negative breast carcinoma 'HER2 negative breast carcinoma' SubClassOf 'breast carcinoma' 'HER2 negative breast carcinoma' SubClassOf 'has_disease_location' some ('breast' or ('part_of' some 'breast')) http://purl.obolibrary.org/obo/UBERON_2000462 abductor hyohyoid 'abductor hyohyoid' SubClassOf 'hyoid muscle' http://purl.obolibrary.org/obo/UBERON_2000465 adductor operculi 'adductor operculi' SubClassOf 'hyoid muscle' http://purl.obolibrary.org/obo/UBERON_2000466 anal depressor 'anal depressor' SubClassOf 'depressor muscle' http://purl.obolibrary.org/obo/UBERON_2000468 anterior crista primordium 'anterior crista primordium' SubClassOf 'primordium' http://www.ebi.ac.uk/efo/EFO_0009796 response to supplemental oxygen 'response to supplemental oxygen' SubClassOf 'response to drug' http://www.ebi.ac.uk/efo/EFO_0009797 lung disease associated with cystic fibrosis 'lung disease associated with cystic fibrosis' SubClassOf 'has_disease_location' some ('alveolus of lung' or ('part_of' some 'alveolus of lung')) 'lung disease associated with cystic fibrosis' SubClassOf 'lung disease' http://www.ebi.ac.uk/efo/EFO_0009799 self-reported trait 'self-reported trait' SubClassOf 'quality' http://www.ebi.ac.uk/efo/EFO_0009792 valine measurement 'valine measurement' SubClassOf 'amino acid measurement' http://www.ebi.ac.uk/efo/EFO_0009793 isoleucine measurement 'isoleucine measurement' SubClassOf 'amino acid measurement' http://www.ebi.ac.uk/efo/EFO_0009794 NRF2 measurement 'NRF2 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0009795 serum urea measurement 'serum urea measurement' SubClassOf 'renal system measurement' http://purl.obolibrary.org/obo/UBERON_2000452 urohyal 'urohyal' SubClassOf 'dermal bone' http://purl.obolibrary.org/obo/UBERON_2000455 ventral flexor 'ventral flexor' SubClassOf 'flexor muscle' http://purl.obolibrary.org/obo/UBERON_0006533 rectus extraocular muscle 'rectus extraocular muscle' SubClassOf 'oculomotor muscle' http://purl.obolibrary.org/obo/UBERON_0006534 renal convoluted tubule 'renal convoluted tubule' SubClassOf 'region of nephron tubule' http://purl.obolibrary.org/obo/UBERON_0006531 oculomotor muscle 'oculomotor muscle' SubClassOf 'extra-ocular muscle' http://purl.obolibrary.org/obo/UBERON_0006532 oblique extraocular muscle 'oblique extraocular muscle' SubClassOf 'oculomotor muscle' http://purl.obolibrary.org/obo/UBERON_2000492 coracoradialis 'coracoradialis' SubClassOf 'pectoral appendage muscle' http://purl.obolibrary.org/obo/UBERON_2000495 infraorbital 5 'infraorbital 5' SubClassOf 'infraorbital' http://purl.obolibrary.org/obo/UBERON_2000497 pelvic adductor profundus 'pelvic adductor profundus' SubClassOf 'adductor muscle of hip' 'pelvic adductor profundus' SubClassOf 'pelvic appendage muscle' http://purl.obolibrary.org/obo/UBERON_2000498 dilator operculi 'dilator operculi' SubClassOf 'mandibular muscle' http://purl.obolibrary.org/obo/UBERON_0006541 outer medulla inner stripe loop of Henle 'outer medulla inner stripe loop of Henle' SubClassOf 'outer renal medulla loop of Henle' http://purl.obolibrary.org/obo/UBERON_2000499 dorsal arrector 'dorsal arrector' SubClassOf 'pectoral appendage muscle' 'dorsal arrector' SubClassOf 'arrector muscle' http://purl.obolibrary.org/obo/UBERON_0006544 kidney vasculature 'kidney vasculature' SubClassOf 'vasculature of trunk' 'kidney vasculature' SubClassOf 'vasculature of organ' http://purl.obolibrary.org/obo/UBERON_0006542 outer medulla outer stripe loop of Henle 'outer medulla outer stripe loop of Henle' SubClassOf 'outer renal medulla loop of Henle' http://purl.obolibrary.org/obo/UBERON_0006508 interosseous muscle of autopod 'interosseous muscle of autopod' SubClassOf 'limb muscle' http://purl.obolibrary.org/obo/UBERON_0006505 palmar interosseous muscle of manus 'palmar interosseous muscle of manus' SubClassOf 'interosseous muscle of manus' http://purl.obolibrary.org/obo/UBERON_0006502 plantar interosseous muscle of pes 'plantar interosseous muscle of pes' SubClassOf 'interosseous muscle of pes' http://purl.obolibrary.org/obo/UBERON_0018584 secondary canine tooth 'secondary canine tooth' SubClassOf 'cuspid' 'secondary canine tooth' SubClassOf 'secondary tooth' http://purl.obolibrary.org/obo/UBERON_0018583 primary canine tooth 'primary canine tooth' SubClassOf 'cuspid' 'primary canine tooth' SubClassOf 'deciduous tooth' http://purl.obolibrary.org/obo/UBERON_0018580 lower third secondary molar tooth 'lower third secondary molar tooth' SubClassOf 'lower molar 3' 'lower third secondary molar tooth' SubClassOf 'lower secondary molar tooth' http://purl.obolibrary.org/obo/UBERON_0018588 upper first primary molar tooth 'upper first primary molar tooth' SubClassOf 'deciduous molar tooth 1' 'upper first primary molar tooth' SubClassOf 'upper primary molar tooth' 'upper first primary molar tooth' SubClassOf 'upper molar 1' http://purl.obolibrary.org/obo/UBERON_0018589 lower first primary molar tooth 'lower first primary molar tooth' SubClassOf 'deciduous molar tooth 1' 'lower first primary molar tooth' SubClassOf 'lower primary molar tooth' http://purl.obolibrary.org/obo/MONDO_0002907 intracranial thrombosis 'intracranial thrombosis' SubClassOf 'thrombotic disease' 'intracranial thrombosis' SubClassOf 'cerebrovascular disorder' http://purl.obolibrary.org/obo/MONDO_0002901 blood group incompatibility 'blood group incompatibility' SubClassOf 'hematologic disease' http://purl.obolibrary.org/obo/UBERON_0006598 presumptive structure 'presumptive structure' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0018573 lower first secondary premolar tooth 'lower first secondary premolar tooth' SubClassOf 'lower premolar 1' 'lower first secondary premolar tooth' SubClassOf 'lower secondary premolar tooth' http://purl.obolibrary.org/obo/UBERON_0018572 upper second secondary premolar tooth 'upper second secondary premolar tooth' SubClassOf 'upper secondary premolar tooth' 'upper second secondary premolar tooth' SubClassOf 'premolar 2' http://purl.obolibrary.org/obo/UBERON_0018575 upper first secondary molar tooth 'upper first secondary molar tooth' SubClassOf 'upper secondary molar tooth' 'upper first secondary molar tooth' SubClassOf 'permanent molar tooth 1' 'upper first secondary molar tooth' SubClassOf 'upper molar 1' http://purl.obolibrary.org/obo/UBERON_0018574 lower second secondary premolar tooth 'lower second secondary premolar tooth' SubClassOf 'lower premolar 2' 'lower second secondary premolar tooth' SubClassOf 'lower secondary premolar tooth' http://purl.obolibrary.org/obo/UBERON_0018571 upper first secondary premolar tooth 'upper first secondary premolar tooth' SubClassOf 'premolar 1' 'upper first secondary premolar tooth' SubClassOf 'upper secondary premolar tooth' http://purl.obolibrary.org/obo/UBERON_0018570 lower lateral secondary incisor tooth 'lower lateral secondary incisor tooth' SubClassOf 'lower lateral incisor tooth' 'lower lateral secondary incisor tooth' SubClassOf 'lower secondary incisor tooth' http://purl.obolibrary.org/obo/UBERON_0018577 upper third secondary molar tooth 'upper third secondary molar tooth' SubClassOf 'molar tooth 3' 'upper third secondary molar tooth' SubClassOf 'upper secondary molar tooth' http://purl.obolibrary.org/obo/UBERON_0018576 upper second secondary molar tooth 'upper second secondary molar tooth' SubClassOf 'upper secondary molar tooth' 'upper second secondary molar tooth' SubClassOf 'permanent molar tooth 2' http://purl.obolibrary.org/obo/UBERON_0018579 lower second secondary molar tooth 'lower second secondary molar tooth' SubClassOf 'permanent molar tooth 2' 'lower second secondary molar tooth' SubClassOf 'lower secondary molar tooth' http://purl.obolibrary.org/obo/UBERON_0018578 lower first secondary molar tooth 'lower first secondary molar tooth' SubClassOf 'permanent molar tooth 1' 'lower first secondary molar tooth' SubClassOf 'lower secondary molar tooth' http://purl.obolibrary.org/obo/MONDO_0002915 childhood infratentorial neoplasm 'childhood infratentorial neoplasm' SubClassOf 'infratentorial neoplasm' 'childhood infratentorial neoplasm' SubClassOf 'childhood neoplasm' http://purl.obolibrary.org/obo/MONDO_0002917 disease of pilosebaceous unit 'disease of pilosebaceous unit' SubClassOf 'integumentary system disease' http://purl.obolibrary.org/obo/MONDO_0002912 brainstem cancer 'brainstem cancer' SubClassOf 'infratentorial cancer' 'brainstem cancer' SubClassOf 'brainstem neoplasm' http://purl.obolibrary.org/obo/MONDO_0002913 cerebellar neoplasm 'cerebellar neoplasm' SubClassOf 'brain neoplasm' 'cerebellar neoplasm' SubClassOf 'cerebellar disease' http://purl.obolibrary.org/obo/MONDO_0002914 childhood brain stem neoplasm 'childhood brain stem neoplasm' SubClassOf 'childhood infratentorial neoplasm' 'childhood brain stem neoplasm' SubClassOf 'childhood cancer' 'childhood brain stem neoplasm' SubClassOf 'brainstem cancer' http://purl.obolibrary.org/obo/MONDO_0002921 congenital structural myopathy 'congenital structural myopathy' SubClassOf 'myopathy' http://purl.obolibrary.org/obo/MONDO_0002927 spindle cell sarcoma 'spindle cell sarcoma' SubClassOf 'sarcoma' 'spindle cell sarcoma' SubClassOf 'malignant spindle cell neoplasm' http://purl.obolibrary.org/obo/MONDO_0002928 carcinosarcoma 'carcinosarcoma' SubClassOf 'Malignant Mixed Neoplasm' http://purl.obolibrary.org/obo/MONDO_0002924 smooth muscle cancer 'smooth muscle cancer' SubClassOf 'smooth muscle tumor' 'smooth muscle cancer' SubClassOf 'muscle cancer' http://purl.obolibrary.org/obo/UBERON_0018595 lower central primary incisor tooth 'lower central primary incisor tooth' SubClassOf 'lower central incisor tooth' 'lower central primary incisor tooth' SubClassOf 'primary central incisor tooth' 'lower central primary incisor tooth' SubClassOf 'lower primary incisor tooth' http://purl.obolibrary.org/obo/MONDO_0002930 kidney sarcoma 'kidney sarcoma' SubClassOf 'kidney cancer' 'kidney sarcoma' SubClassOf 'soft tissue sarcoma' http://purl.obolibrary.org/obo/UBERON_0018594 upper lateral primary incisor tooth 'upper lateral primary incisor tooth' SubClassOf 'upper lateral incisor tooth' 'upper lateral primary incisor tooth' SubClassOf 'primary lateral incisor tooth' 'upper lateral primary incisor tooth' SubClassOf 'upper primary incisor tooth' http://purl.obolibrary.org/obo/UBERON_0018597 upper primary canine tooth 'upper primary canine tooth' SubClassOf 'upper canine tooth' 'upper primary canine tooth' SubClassOf 'primary canine tooth' 'upper primary canine tooth' SubClassOf 'primary upper tooth' http://purl.obolibrary.org/obo/UBERON_0018596 lower lateral primary incisor tooth 'lower lateral primary incisor tooth' SubClassOf 'lower lateral incisor tooth' 'lower lateral primary incisor tooth' SubClassOf 'lower primary incisor tooth' 'lower lateral primary incisor tooth' SubClassOf 'primary lateral incisor tooth' http://purl.obolibrary.org/obo/UBERON_0018591 upper primary incisor tooth 'upper primary incisor tooth' SubClassOf 'upper jaw incisor' 'upper primary incisor tooth' SubClassOf 'primary upper tooth' 'upper primary incisor tooth' SubClassOf 'primary incisor tooth' http://purl.obolibrary.org/obo/UBERON_0018593 upper central primary incisor tooth 'upper central primary incisor tooth' SubClassOf 'upper central incisor tooth' 'upper central primary incisor tooth' SubClassOf 'primary central incisor tooth' 'upper central primary incisor tooth' SubClassOf 'upper primary incisor tooth' http://purl.obolibrary.org/obo/UBERON_0018599 upper second primary molar tooth 'upper second primary molar tooth' SubClassOf 'deciduous molar tooth 2' 'upper second primary molar tooth' SubClassOf 'upper primary molar tooth' http://purl.obolibrary.org/obo/UBERON_0018598 lower primary canine tooth 'lower primary canine tooth' SubClassOf 'lower canine tooth' 'lower primary canine tooth' SubClassOf 'primary canine tooth' 'lower primary canine tooth' SubClassOf 'primary lower tooth' http://purl.obolibrary.org/obo/MONDO_0002933 osteosclerosis 'osteosclerosis' SubClassOf 'bone remodeling disease' http://purl.obolibrary.org/obo/UBERON_0018537 tail feather 'tail feather' SubClassOf 'feather' http://purl.obolibrary.org/obo/UBERON_0018536 wing feather 'wing feather' SubClassOf 'forelimb feather' http://purl.obolibrary.org/obo/UBERON_0018539 dorsal feather 'dorsal feather' SubClassOf 'feather' http://purl.obolibrary.org/obo/UBERON_0018538 breast feather 'breast feather' SubClassOf 'feather' http://purl.obolibrary.org/obo/UBERON_0018535 forelimb feather 'forelimb feather' SubClassOf 'feather' http://purl.obolibrary.org/obo/UBERON_0006566 left ventricle myocardium 'left ventricle myocardium' SubClassOf 'myocardium of ventricle' http://purl.obolibrary.org/obo/UBERON_0006567 right ventricle myocardium 'right ventricle myocardium' SubClassOf 'myocardium of ventricle' http://purl.obolibrary.org/obo/UBERON_0006564 superficial palmar arch 'superficial palmar arch' SubClassOf 'forelimb digital vein' http://purl.obolibrary.org/obo/UBERON_0018562 lower secondary canine tooth 'lower secondary canine tooth' SubClassOf 'lower canine tooth' 'lower secondary canine tooth' SubClassOf 'secondary canine tooth' 'lower secondary canine tooth' SubClassOf 'permanent lower tooth' http://purl.obolibrary.org/obo/UBERON_0018561 upper secondary canine tooth 'upper secondary canine tooth' SubClassOf 'secondary canine tooth' 'upper secondary canine tooth' SubClassOf 'secondary upper tooth' 'upper secondary canine tooth' SubClassOf 'upper canine tooth' http://purl.obolibrary.org/obo/UBERON_0018568 lower central secondary incisor tooth 'lower central secondary incisor tooth' SubClassOf 'lower central incisor tooth' 'lower central secondary incisor tooth' SubClassOf 'lower secondary incisor tooth' http://purl.obolibrary.org/obo/MONDO_0000307 parasitic Ichthyosporea infectious disease 'parasitic Ichthyosporea infectious disease' SubClassOf 'parasitic infection' http://purl.obolibrary.org/obo/MONDO_0000308 primary systemic mycosis 'primary systemic mycosis' SubClassOf 'systemic mycosis' 'primary systemic mycosis' EquivalentTo 'systemic mycosis' and ('has modifier' some 'primary infectious') 'primary systemic mycosis' DisjointWith 'opportunistic mycosis' 'primary systemic mycosis' SubClassOf 'has modifier' some 'primary infectious' http://purl.obolibrary.org/obo/MONDO_0002973 epithelioid cell melanoma 'epithelioid cell melanoma' SubClassOf 'melanoma' http://purl.obolibrary.org/obo/UBERON_0018551 central incisor tooth 'central incisor tooth' SubClassOf 'incisor tooth' http://purl.obolibrary.org/obo/MONDO_0002974 cervical cancer 'cervical cancer' SubClassOf 'uterine cervix neoplasm' 'cervical cancer' SubClassOf 'uterine cancer' http://purl.obolibrary.org/obo/UBERON_0018550 secondary incisor tooth 'secondary incisor tooth' SubClassOf 'secondary tooth' 'secondary incisor tooth' SubClassOf 'incisor tooth' http://purl.obolibrary.org/obo/UBERON_0018553 primary central incisor tooth 'primary central incisor tooth' SubClassOf 'central incisor tooth' 'primary central incisor tooth' SubClassOf 'primary incisor tooth' http://purl.obolibrary.org/obo/UBERON_0018552 lateral incisor tooth 'lateral incisor tooth' SubClassOf 'incisor tooth' http://purl.obolibrary.org/obo/MONDO_0000314 primary bacterial infectious disease 'primary bacterial infectious disease' SubClassOf 'has modifier' some 'primary infectious' 'primary bacterial infectious disease' SubClassOf 'bacterial disease' 'primary bacterial infectious disease' EquivalentTo 'bacterial disease' and ('has modifier' some 'primary infectious') http://purl.obolibrary.org/obo/MONDO_0002970 ciliary body disease 'ciliary body disease' SubClassOf 'iris disease' http://purl.obolibrary.org/obo/UBERON_0018554 primary lateral incisor tooth 'primary lateral incisor tooth' SubClassOf 'lateral incisor tooth' 'primary lateral incisor tooth' SubClassOf 'primary incisor tooth' http://purl.obolibrary.org/obo/UBERON_6007045 trunk ectoderm 'trunk ectoderm' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/MONDO_0000316 opportunistic bacterial infectious disease 'opportunistic bacterial infectious disease' SubClassOf 'bacterial disease' 'opportunistic bacterial infectious disease' SubClassOf 'has modifier' some 'opportunistic infectious' 'opportunistic bacterial infectious disease' EquivalentTo 'bacterial disease' and ('has modifier' some 'opportunistic infectious') http://purl.obolibrary.org/obo/MONDO_0000315 commensal bacterial infectious disease 'commensal bacterial infectious disease' SubClassOf 'bacterial disease' http://purl.obolibrary.org/obo/MONDO_0002977 autoimmune disease of the nervous system 'autoimmune disease of the nervous system' SubClassOf 'type II hypersensitivity reaction disease' 'autoimmune disease of the nervous system' SubClassOf 'nervous system disease' http://purl.obolibrary.org/obo/UBERON_0006588 round ligament of liver 'round ligament of liver' DisjointWith 'round ligament of uterus' 'round ligament of liver' SubClassOf 'ligament of liver' http://purl.obolibrary.org/obo/UBERON_0006589 round ligament of uterus 'round ligament of liver' DisjointWith 'round ligament of uterus' 'round ligament of uterus' SubClassOf 'nonskeletal ligament' http://purl.obolibrary.org/obo/MONDO_0002979 papillary squamous carcinoma 'papillary squamous carcinoma' SubClassOf 'squamous cell carcinoma' 'papillary squamous carcinoma' EquivalentTo 'squamous cell carcinoma' and 'papillary carcinoma' 'papillary squamous carcinoma' SubClassOf 'papillary carcinoma' http://purl.obolibrary.org/obo/UBERON_0006586 otolymph 'otolymph' SubClassOf 'transudate' http://purl.obolibrary.org/obo/MONDO_0002989 benign fibrous histiocytoma 'benign fibrous histiocytoma' SubClassOf 'histiocytoma' http://purl.obolibrary.org/obo/MONDO_0002995 small intestine neuroendocrine tumor, well differentiated, low or intermediate grade 'small intestine neuroendocrine tumor, well differentiated, low or intermediate grade' SubClassOf 'small intestine neuroendocrine tumor' 'small intestine neuroendocrine tumor, well differentiated, low or intermediate grade' SubClassOf 'digestive system neuroendocrine tumor, grade 1/2' http://purl.obolibrary.org/obo/MONDO_0000334 multinodular goiter 'multinodular goiter' SubClassOf 'nodular goiter' http://purl.obolibrary.org/obo/MONDO_0000341 paralytic poliomyelitis 'paralytic poliomyelitis' SubClassOf 'poliomyelitis' http://purl.obolibrary.org/obo/MONDO_0024311 cancer affecting bone of limb skeleton 'cancer affecting bone of limb skeleton' SubClassOf 'bone cancer' 'cancer affecting bone of limb skeleton' SubClassOf 'limb disorder' http://purl.obolibrary.org/obo/MONDO_0024315 parasitic endophthalmitis 'parasitic endophthalmitis' SubClassOf 'endophthalmitis' 'parasitic endophthalmitis' SubClassOf 'parasitic eye infection' 'parasitic endophthalmitis' EquivalentTo 'endophthalmitis' and 'parasitic infection' http://purl.obolibrary.org/obo/MONDO_0024318 viral infection of central nervous system 'viral infection of central nervous system' SubClassOf 'central nervous system infection' 'viral infection of central nervous system' SubClassOf 'viral disease' http://purl.obolibrary.org/obo/MONDO_0024317 chronic pain syndrome 'chronic pain syndrome' SubClassOf 'disorder involving pain' http://purl.obolibrary.org/obo/MONDO_0024301 acquired mineral metabolism disease 'acquired mineral metabolism disease' SubClassOf 'acquired metabolic disease' 'acquired mineral metabolism disease' EquivalentTo 'mineral metabolism disease' and ('has modifier' some 'acquired') 'acquired mineral metabolism disease' SubClassOf 'mineral metabolism disease' http://purl.obolibrary.org/obo/MONDO_0000351 disorder of methionine catabolism 'disorder of methionine catabolism' SubClassOf 'Disorder of methionine cycle and sulfur amino acid metabolism' 'disorder of methionine catabolism' SubClassOf 'inborn disorder of aspartate family metabolism' http://purl.obolibrary.org/obo/MONDO_0000358 orofacial cleft 'orofacial cleft' SubClassOf 'congenital abnormality' 'orofacial cleft' SubClassOf 'face disease' http://purl.obolibrary.org/obo/MONDO_0024305 acquired hyperprolactinemia 'acquired hyperprolactinemia' SubClassOf 'hyperprolactinemia' 'acquired hyperprolactinemia' SubClassOf 'acquired metabolic disease' 'acquired hyperprolactinemia' EquivalentTo 'hyperprolactinemia' and ('has modifier' some 'acquired') http://purl.obolibrary.org/obo/MONDO_0024304 ichthyosis vulgaris 'ichthyosis vulgaris' SubClassOf 'ichthyosis (disease)' http://purl.obolibrary.org/obo/MONDO_0024307 prothrombin deficiency 'prothrombin deficiency' SubClassOf 'hemorrhagic disease' http://purl.obolibrary.org/obo/MONDO_0024306 acquired lactic acidosis 'acquired lactic acidosis' SubClassOf 'acquired metabolic disease' 'acquired lactic acidosis' SubClassOf 'lactic acidosis' 'acquired lactic acidosis' EquivalentTo 'lactic acidosis' and ('has modifier' some 'acquired') http://purl.obolibrary.org/obo/MONDO_0000359 spondylocostal dysostosis 'spondylocostal dysostosis' SubClassOf 'vertebral column disease' 'spondylocostal dysostosis' SubClassOf 'dysostosis' http://purl.obolibrary.org/obo/MONDO_0024308 pseudoxanthoma elasticum (inherited or acquired) 'pseudoxanthoma elasticum (inherited or acquired)' SubClassOf 'integumentary system disease' http://purl.obolibrary.org/obo/MONDO_0000365 primary congenital glaucoma (disease) 'primary congenital glaucoma (disease)' SubClassOf 'Congenital glaucoma' http://purl.obolibrary.org/obo/MONDO_0024334 peripheral nerve lesion 'peripheral nerve lesion' SubClassOf 'peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0000369 abdominal tuberculosis 'abdominal tuberculosis' SubClassOf 'extrapulmonary tuberculosis' 'abdominal tuberculosis' SubClassOf 'inflammatory disease' 'abdominal tuberculosis' SubClassOf 'abdominal and pelvic region disorder' http://purl.obolibrary.org/obo/MONDO_0000368 extrapulmonary tuberculosis 'extrapulmonary tuberculosis' DisjointWith 'pulmonary tuberculosis' 'extrapulmonary tuberculosis' SubClassOf 'Tuberculosis' http://purl.obolibrary.org/obo/MONDO_0024338 mucinous neoplasm 'mucinous neoplasm' SubClassOf 'glandular cell neoplasm' http://purl.obolibrary.org/obo/MONDO_0024337 urothelial neoplasm 'urothelial neoplasm' SubClassOf 'transitional cell neoplasm' 'urothelial neoplasm' SubClassOf 'urinary system neoplasm' http://purl.obolibrary.org/obo/MONDO_0024339 lymph node neoplasm 'lymph node neoplasm' SubClassOf 'lymph node disease' 'lymph node neoplasm' SubClassOf 'hematopoietic and lymphoid system neoplasm' http://purl.obolibrary.org/obo/MONDO_0000376 respiratory system cancer 'respiratory system cancer' SubClassOf 'respiratory system disease' 'respiratory system cancer' SubClassOf 'respiratory system neoplasm' 'respiratory system cancer' SubClassOf 'cancer' http://purl.obolibrary.org/obo/MONDO_0024321 disorder of GPI anchor biosynthesis 'disorder of GPI anchor biosynthesis' SubClassOf 'disorder of glycosylation' http://purl.obolibrary.org/obo/MONDO_0024320 inner ear neoplasm 'inner ear neoplasm' SubClassOf 'ear neoplasm' 'inner ear neoplasm' SubClassOf 'inner ear disease' http://purl.obolibrary.org/obo/MONDO_0024322 disorder of glycosylation 'disorder of glycosylation' SubClassOf 'metabolic disease' 'disorder of glycosylation' SubClassOf 'nutritional or metabolic disease' http://purl.obolibrary.org/obo/MONDO_0012350 complement factor H deficiency 'complement factor H deficiency' SubClassOf 'Atypical hemolytic-uremic syndrome' 'complement factor H deficiency' SubClassOf 'Non-immunoglobulin-mediated membranoproliferative glomerulonephritis' http://purl.obolibrary.org/obo/MONDO_0000387 hypochromic microcytic anemia (disease) 'hypochromic microcytic anemia (disease)' SubClassOf 'hypochromic anemia (disease)' 'hypochromic microcytic anemia (disease)' SubClassOf 'microcytic anemia' http://purl.obolibrary.org/obo/MONDO_0000386 digestive system neuroendocrine tumor, grade 1/2 'digestive system neuroendocrine tumor, grade 1/2' SubClassOf 'has modifier' some 'tumor grade 1 or 2, general grading system' 'digestive system neuroendocrine tumor, grade 1/2' SubClassOf 'digestive system neuroendocrine neoplasm' http://purl.obolibrary.org/obo/MONDO_0000385 benign digestive system neoplasm 'benign digestive system neoplasm' SubClassOf 'digestive system neoplasm' 'benign digestive system neoplasm' SubClassOf 'benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0024355 respiratory tract infectious disease 'respiratory tract infectious disease' SubClassOf 'infectious disease' 'respiratory tract infectious disease' SubClassOf 'respiratory system disease' http://purl.obolibrary.org/obo/MONDO_0000389 atelosteogenesis 'atelosteogenesis' SubClassOf 'osteochondrodysplasia' http://purl.obolibrary.org/obo/MONDO_0000383 benign reproductive system neoplasm 'benign reproductive system neoplasm' SubClassOf 'benign neoplasm' 'benign reproductive system neoplasm' SubClassOf 'reproductive system neoplasm' http://purl.obolibrary.org/obo/MONDO_0000382 respiratory system benign neoplasm 'respiratory system benign neoplasm' SubClassOf 'benign neoplasm' 'respiratory system benign neoplasm' SubClassOf 'respiratory system neoplasm' 'respiratory system benign neoplasm' SubClassOf 'respiratory system disease' http://purl.obolibrary.org/obo/MONDO_0024352 viral respiratory tract infection 'viral respiratory tract infection' SubClassOf 'viral disease' 'viral respiratory tract infection' SubClassOf 'respiratory tract infectious disease' http://purl.obolibrary.org/obo/MONDO_0000380 paranasal sinus carcinoma 'paranasal sinus carcinoma' SubClassOf 'paranasal sinus cancer' 'paranasal sinus carcinoma' SubClassOf 'nasal cavity and paranasal sinus carcinoma' 'paranasal sinus carcinoma' SubClassOf 'bone carcinoma' http://purl.obolibrary.org/obo/MONDO_0024351 familial pityriasis rubra pilaris 'familial pityriasis rubra pilaris' SubClassOf 'Pityriasis rubra pilaris' 'familial pityriasis rubra pilaris' EquivalentTo 'Pityriasis rubra pilaris' and ('has modifier' some 'inherited') 'familial pityriasis rubra pilaris' SubClassOf 'genetic skin disease' http://purl.obolibrary.org/obo/MONDO_0000396 spastic cerebral palsy 'spastic cerebral palsy' SubClassOf 'cerebral palsy' http://purl.obolibrary.org/obo/MONDO_0000390 vitelliform macular dystrophy 'vitelliform macular dystrophy' SubClassOf 'macular degeneration' 'vitelliform macular dystrophy' SubClassOf 'Genetic macular dystrophy' http://purl.obolibrary.org/obo/MONDO_0024341 retinal cell neoplasm 'retinal cell neoplasm' SubClassOf 'retina neoplasm' http://purl.obolibrary.org/obo/MONDO_0000167 Huntington disease and related disorders 'Huntington disease and related disorders' SubClassOf 'Genetic neurodegenerative disease' http://purl.obolibrary.org/obo/UBERON_0004619 lumbar vertebra 3 'lumbar vertebra 3' SubClassOf 'lumbar vertebra' http://purl.obolibrary.org/obo/MONDO_0000166 encephalopathy, acute, infection-induced 'encephalopathy, acute, infection-induced' SubClassOf 'brain disease' 'encephalopathy, acute, infection-induced' SubClassOf 'post-infectious disorder' 'encephalopathy, acute, infection-induced' SubClassOf 'acute disease' http://purl.obolibrary.org/obo/UBERON_0004618 lumbar vertebra 2 'lumbar vertebra 2' SubClassOf 'lumbar vertebra' http://purl.obolibrary.org/obo/UBERON_0004615 mammalian cervical vertebra 6 'mammalian cervical vertebra 6' SubClassOf 'cervical vertebra' http://purl.obolibrary.org/obo/UBERON_0004614 mammalian cervical vertebra 5 'mammalian cervical vertebra 5' SubClassOf 'cervical vertebra' http://purl.obolibrary.org/obo/MONDO_0000169 microphthalmia, isolated, with cataract 'microphthalmia, isolated, with cataract' SubClassOf 'disease has feature' some 'cataract' 'microphthalmia, isolated, with cataract' SubClassOf 'isolated microphthalmia' 'microphthalmia, isolated, with cataract' EquivalentTo 'isolated microphthalmia' and ('disease has feature' some 'cataract') http://purl.obolibrary.org/obo/UBERON_0004617 lumbar vertebra 1 'lumbar vertebra 1' SubClassOf 'lumbar vertebra' http://purl.obolibrary.org/obo/UBERON_0004616 mammalian cervical vertebra 7 'mammalian cervical vertebra 7' SubClassOf 'cervical vertebra' http://purl.obolibrary.org/obo/MONDO_0000162 autoimmune thyroid disease, susceptibility to 'autoimmune thyroid disease, susceptibility to' SubClassOf 'predisposes towards' some 'autoimmune thyroid disease' 'autoimmune thyroid disease, susceptibility to' SubClassOf 'inherited disease susceptibility' 'autoimmune thyroid disease, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'autoimmune thyroid disease') http://purl.obolibrary.org/obo/UBERON_0004611 rib 12 'rib 12' SubClassOf 'rib' http://purl.obolibrary.org/obo/UBERON_0004610 rib 11 'rib 11' SubClassOf 'rib' http://purl.obolibrary.org/obo/UBERON_0004613 mammalian cervical vertebra 4 'mammalian cervical vertebra 4' SubClassOf 'cervical vertebra' http://purl.obolibrary.org/obo/UBERON_0004612 mammalian cervical vertebra 3 'mammalian cervical vertebra 3' SubClassOf 'cervical vertebra' http://purl.obolibrary.org/obo/UBERON_0004629 thoracic vertebra 4 'thoracic vertebra 4' SubClassOf 'thoracic vertebra' http://purl.obolibrary.org/obo/UBERON_0004626 thoracic vertebra 1 'thoracic vertebra 1' SubClassOf 'thoracic vertebra' http://purl.obolibrary.org/obo/UBERON_0004625 sacral vertebra 4 'sacral vertebra 4' SubClassOf 'sacral vertebra' http://purl.obolibrary.org/obo/UBERON_0004628 thoracic vertebra 3 'thoracic vertebra 3' SubClassOf 'thoracic vertebra' http://purl.obolibrary.org/obo/UBERON_0004627 thoracic vertebra 2 'thoracic vertebra 2' SubClassOf 'thoracic vertebra' http://purl.obolibrary.org/obo/MONDO_0000170 microphthalmia, isolated, with coloboma 'microphthalmia, isolated, with coloboma' SubClassOf 'isolated microphthalmia' 'microphthalmia, isolated, with coloboma' EquivalentTo 'isolated microphthalmia' and ('disease has feature' some 'coloboma') 'microphthalmia, isolated, with coloboma' SubClassOf 'disease has feature' some 'coloboma' http://purl.obolibrary.org/obo/MONDO_0000173 muscular dystrophy-dystroglycanopathy, type C 'muscular dystrophy-dystroglycanopathy, type C' SubClassOf 'Congenital muscular dystrophy due to dystroglycanopathy' http://purl.obolibrary.org/obo/MONDO_0000171 muscular dystrophy-dystroglycanopathy, type A 'muscular dystrophy-dystroglycanopathy, type A' SubClassOf 'Congenital muscular dystrophy due to dystroglycanopathy' http://purl.obolibrary.org/obo/UBERON_0004622 sacral vertebra 1 'sacral vertebra 1' SubClassOf 'sacral vertebra' http://purl.obolibrary.org/obo/UBERON_0004621 lumbar vertebra 5 'lumbar vertebra 5' SubClassOf 'lumbar vertebra' http://purl.obolibrary.org/obo/UBERON_0004624 sacral vertebra 3 'sacral vertebra 3' SubClassOf 'sacral vertebra' http://purl.obolibrary.org/obo/UBERON_0004623 sacral vertebra 2 'sacral vertebra 2' SubClassOf 'sacral vertebra' http://purl.obolibrary.org/obo/UBERON_0004620 lumbar vertebra 4 'lumbar vertebra 4' SubClassOf 'lumbar vertebra' http://purl.obolibrary.org/obo/MONDO_0000188 GLUT1 deficiency syndrome 'GLUT1 deficiency syndrome' SubClassOf 'Disorder of carbohydrate metabolism' 'GLUT1 deficiency syndrome' SubClassOf 'Rare genetic neurological disorder' 'GLUT1 deficiency syndrome' SubClassOf 'metabolic epilepsy' 'GLUT1 deficiency syndrome' SubClassOf 'carbohydrate transport disease' http://purl.obolibrary.org/obo/UBERON_0004636 thoracic vertebra 12 'thoracic vertebra 12' SubClassOf 'thoracic vertebra' http://purl.obolibrary.org/obo/UBERON_0004639 renal afferent arteriole 'renal afferent arteriole' SubClassOf 'kidney arterial blood vessel' 'renal afferent arteriole' SubClassOf 'artery' 'renal afferent arteriole' SubClassOf 'arteriole' http://purl.obolibrary.org/obo/UBERON_0004638 blood vessel endothelium 'blood vessel endothelium' SubClassOf 'cardiovascular system endothelium' http://purl.obolibrary.org/obo/MONDO_0000184 congenital vitamin K-dependent coagulation factors combined deficiency 'congenital vitamin K-dependent coagulation factors combined deficiency' SubClassOf 'Congenital vitamin K-dependent coagulation factors deficiency' http://purl.obolibrary.org/obo/UBERON_0004633 thoracic vertebra 9 'thoracic vertebra 9' SubClassOf 'thoracic vertebra' http://purl.obolibrary.org/obo/UBERON_0004632 thoracic vertebra 7 'thoracic vertebra 7' SubClassOf 'thoracic vertebra' http://purl.obolibrary.org/obo/UBERON_0004635 thoracic vertebra 11 'thoracic vertebra 11' SubClassOf 'thoracic vertebra' http://purl.obolibrary.org/obo/UBERON_0004634 thoracic vertebra 10 'thoracic vertebra 10' SubClassOf 'thoracic vertebra' http://purl.obolibrary.org/obo/UBERON_0004631 thoracic vertebra 6 'thoracic vertebra 6' SubClassOf 'thoracic vertebra' http://purl.obolibrary.org/obo/UBERON_0004630 thoracic vertebra 5 'thoracic vertebra 5' SubClassOf 'thoracic vertebra' http://purl.obolibrary.org/obo/UBERON_0004644 fourth ventricle ependyma 'fourth ventricle ependyma' SubClassOf 'brain ependyma' http://purl.obolibrary.org/obo/UBERON_0004643 lateral ventricle ependyma 'lateral ventricle ependyma' SubClassOf 'brain ependyma' http://purl.obolibrary.org/obo/UBERON_0004646 infraorbital artery 'infraorbital artery' SubClassOf 'artery' http://purl.obolibrary.org/obo/UBERON_0004645 urinary bladder urothelium 'urinary bladder urothelium' SubClassOf 'epithelium of mucosa' 'urinary bladder urothelium' SubClassOf 'urothelium' 'urinary bladder urothelium' SubClassOf 'meso-epithelium' http://purl.obolibrary.org/obo/UBERON_0004640 renal efferent arteriole 'renal efferent arteriole' SubClassOf 'kidney arterial blood vessel' 'renal efferent arteriole' SubClassOf 'arteriole' http://purl.obolibrary.org/obo/UBERON_0004642 third ventricle ependyma 'third ventricle ependyma' SubClassOf 'brain ependyma' http://purl.obolibrary.org/obo/MONDO_0012197 idiopathic aplastic anemia 'idiopathic aplastic anemia' SubClassOf 'has modifier' some 'rare' 'idiopathic aplastic anemia' SubClassOf 'anemia (disease)' 'idiopathic aplastic anemia' SubClassOf 'has modifier' some 'acquired' http://purl.obolibrary.org/obo/UBERON_0004608 rib 9 'rib 9' SubClassOf 'rib' http://purl.obolibrary.org/obo/UBERON_0004607 rib 7 'rib 7' SubClassOf 'rib' http://purl.obolibrary.org/obo/UBERON_0004609 rib 10 'rib 10' SubClassOf 'rib' http://purl.obolibrary.org/obo/UBERON_0004604 rib 4 'rib 4' SubClassOf 'rib' http://purl.obolibrary.org/obo/UBERON_0004603 rib 3 'rib 3' SubClassOf 'rib' http://purl.obolibrary.org/obo/UBERON_0004606 rib 6 'rib 6' SubClassOf 'rib' http://purl.obolibrary.org/obo/UBERON_0004605 rib 5 'rib 5' SubClassOf 'rib' http://purl.obolibrary.org/obo/UBERON_0004602 rib 2 'rib 2' SubClassOf 'rib' http://purl.obolibrary.org/obo/UBERON_0004601 rib 1 'rib 1' SubClassOf 'rib' http://purl.obolibrary.org/obo/UBERON_0004691 bulbourethral gland secretion 'bulbourethral gland secretion' SubClassOf 'seminal fluid' http://purl.obolibrary.org/obo/UBERON_0004690 pancreaticoduodenal vein 'pancreaticoduodenal vein' SubClassOf 'pancreatic tributary of splenic vein' http://purl.obolibrary.org/obo/UBERON_0004693 Peyer's patch epithelium 'Peyer's patch epithelium' SubClassOf 'intestinal epithelium' http://purl.obolibrary.org/obo/UBERON_0004692 external naris epithelium 'external naris epithelium' SubClassOf 'naris epithelium' 'external naris epithelium' SubClassOf 'nose epithelium' http://purl.obolibrary.org/obo/UBERON_0004699 outflow tract endothelium 'outflow tract endothelium' SubClassOf 'heart endothelium' http://purl.obolibrary.org/obo/UBERON_0004698 vena cava endothelium 'vena cava endothelium' SubClassOf 'endothelium of vein' http://purl.obolibrary.org/obo/UBERON_0002039 inferior phrenic vein 'inferior phrenic vein' SubClassOf 'phrenic vein' http://purl.obolibrary.org/obo/UBERON_0004695 arterial system smooth muscle 'arterial system smooth muscle' SubClassOf 'smooth muscle tissue' http://purl.obolibrary.org/obo/UBERON_0002033 arrector muscle of hair 'arrector muscle of hair' SubClassOf 'smooth muscle tissue' http://purl.obolibrary.org/obo/UBERON_0004694 Harderian gland epithelium 'Harderian gland epithelium' SubClassOf 'eye epithelium' http://purl.obolibrary.org/obo/UBERON_0004697 Peyer's patch germinal center 'Peyer's patch germinal center' SubClassOf 'germinal center' http://purl.obolibrary.org/obo/UBERON_0004696 venous system smooth muscle 'venous system smooth muscle' SubClassOf 'blood vessel smooth muscle' http://purl.obolibrary.org/obo/UBERON_0002040 bronchial artery 'bronchial artery' SubClassOf 'systemic artery' http://purl.obolibrary.org/obo/UBERON_0002041 terminal bronchus 'terminal bronchus' SubClassOf 'bronchus' http://purl.obolibrary.org/obo/UBERON_0002042 lymphatic vessel endothelium 'lymphatic vessel endothelium' SubClassOf 'cardiovascular system endothelium' http://purl.obolibrary.org/obo/UBERON_0002059 submandibular ganglion 'submandibular ganglion' SubClassOf 'parasympathetic ganglion' http://purl.obolibrary.org/obo/UBERON_0002056 inferior suprarenal artery 'inferior suprarenal artery' SubClassOf 'suprarenal artery' 'inferior suprarenal artery' SubClassOf 'systemic artery' http://purl.obolibrary.org/obo/UBERON_0002057 phrenic artery 'phrenic artery' SubClassOf 'systemic artery' http://purl.obolibrary.org/obo/UBERON_0002061 truncus arteriosus 'truncus arteriosus' SubClassOf 'embryonic structure' 'truncus arteriosus' SubClassOf 'artery' 'truncus arteriosus' SubClassOf 'heart blood vessel' http://purl.obolibrary.org/obo/UBERON_0002062 endocardial cushion 'endocardial cushion' SubClassOf 'trunk mesenchyme' 'endocardial cushion' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0002064 common cardinal vein 'common cardinal vein' SubClassOf 'trunk blood vessel' 'common cardinal vein' SubClassOf 'embryonic structure' 'common cardinal vein' SubClassOf 'cardinal vein' http://purl.obolibrary.org/obo/UBERON_0002065 posterior cardinal vein 'posterior cardinal vein' SubClassOf 'cardinal vein' 'posterior cardinal vein' SubClassOf 'trunk blood vessel' 'posterior cardinal vein' DisjointWith 'anterior cardinal vein' http://purl.obolibrary.org/obo/UBERON_0004650 tongue keratinized epithelium 'tongue keratinized epithelium' SubClassOf 'tongue squamous epithelium' 'tongue keratinized epithelium' SubClassOf 'keratinized stratified squamous epithelium' http://purl.obolibrary.org/obo/UBERON_0016631 actinopterygian frontal-parietal joint 'actinopterygian frontal-parietal joint' SubClassOf 'cranial suture' http://purl.obolibrary.org/obo/UBERON_0016632 isthmus of fallopian tube 'isthmus of fallopian tube' SubClassOf 'fallopian tube' http://purl.obolibrary.org/obo/UBERON_0002000 gluteal muscle 'gluteal muscle' SubClassOf 'muscle of pelvic girdle' http://purl.obolibrary.org/obo/UBERON_0002001 joint of rib 'joint of rib' SubClassOf 'skeletal joint' http://purl.obolibrary.org/obo/UBERON_0002002 interchondral joint 'interchondral joint' SubClassOf 'syndesmosis' 'interchondral joint' SubClassOf 'joint of rib' http://purl.obolibrary.org/obo/UBERON_0002018 synovial membrane of synovial joint 'synovial membrane of synovial joint' SubClassOf 'stratified squamous epithelium' 'synovial membrane of synovial joint' SubClassOf 'meso-epithelium' http://purl.obolibrary.org/obo/UBERON_0002019 accessory XI nerve 'accessory XI nerve' SubClassOf 'laryngeal nerve' http://purl.obolibrary.org/obo/UBERON_0004670 ependyma 'ependyma' SubClassOf 'ecto-epithelium' 'ependyma' SubClassOf 'ciliated epithelium' http://purl.obolibrary.org/obo/UBERON_0002016 pulmonary vein 'pulmonary vein' SubClassOf 'great vessel of heart' 'pulmonary vein' SubClassOf 'vein' http://purl.obolibrary.org/obo/UBERON_0002017 portal vein 'portal vein' SubClassOf 'vein' http://purl.obolibrary.org/obo/UBERON_0002011 thoracodorsal artery 'thoracodorsal artery' SubClassOf 'artery' http://purl.obolibrary.org/obo/UBERON_0004672 posterior horn lateral ventricle 'posterior horn lateral ventricle' SubClassOf 'telencephalic ventricle' 'anterior horn of lateral ventricle' DisjointWith 'posterior horn lateral ventricle' http://purl.obolibrary.org/obo/UBERON_0002029 epithelium of gall bladder 'epithelium of gall bladder' SubClassOf 'endo-epithelium' 'epithelium of gall bladder' SubClassOf 'simple columnar epithelium' http://purl.obolibrary.org/obo/UBERON_0004681 vestibular system 'vestibular system' SubClassOf 'sensory system' http://purl.obolibrary.org/obo/UBERON_0004688 costo-cervical trunk 'costo-cervical trunk' SubClassOf 'artery' http://purl.obolibrary.org/obo/UBERON_0004687 lieno-renal ligament 'lieno-renal ligament' SubClassOf 'nonskeletal ligament' http://purl.obolibrary.org/obo/UBERON_0002027 stratum corneum of epidermis 'stratum corneum of epidermis' SubClassOf 'periderm' http://purl.obolibrary.org/obo/UBERON_0004689 naso-frontal vein 'naso-frontal vein' SubClassOf 'vein' http://purl.obolibrary.org/obo/UBERON_0002023 claustrum of brain 'claustrum of brain' SubClassOf 'basal ganglion' http://purl.obolibrary.org/obo/UBERON_0004686 gastro-splenic ligament 'gastro-splenic ligament' SubClassOf 'nonskeletal ligament' http://purl.obolibrary.org/obo/MONDO_0002807 bronchial neoplasm (disease) 'bronchial neoplasm (disease)' SubClassOf 'respiratory tract neoplasm' 'bronchial neoplasm (disease)' SubClassOf 'neoplasm of thorax' 'bronchial neoplasm (disease)' SubClassOf 'bronchial disease' http://purl.obolibrary.org/obo/MONDO_0002816 adrenal cortex disease 'adrenal cortex disease' SubClassOf 'adrenal gland disease' http://purl.obolibrary.org/obo/MONDO_0002817 adrenal gland cancer 'adrenal gland cancer' SubClassOf 'adrenal gland neoplasm' 'adrenal gland cancer' SubClassOf 'malignant endocrine neoplasm' 'adrenal gland cancer' SubClassOf 'retroperitoneal cancer' http://purl.obolibrary.org/obo/MONDO_0002812 infectious otitis interna 'infectious otitis interna' SubClassOf 'ear infection' 'infectious otitis interna' EquivalentTo 'labyrinthitis' and ('disease arises from feature' some 'infectious disease') 'infectious otitis interna' SubClassOf 'post-infectious disorder' 'infectious otitis interna' SubClassOf 'labyrinthitis' http://purl.obolibrary.org/obo/MONDO_0002813 lipomatous cancer 'lipomatous cancer' SubClassOf 'connective tissue cancer' 'lipomatous cancer' SubClassOf 'tumor of adipose tissue' http://purl.obolibrary.org/obo/MONDO_0002814 adrenal carcinoma 'adrenal carcinoma' SubClassOf 'adrenal gland cancer' 'adrenal carcinoma' SubClassOf 'retroperitoneum carcinoma' http://purl.obolibrary.org/obo/UBERON_0002070 superior pancreaticoduodenal artery 'superior pancreaticoduodenal artery' SubClassOf 'systemic artery' 'superior pancreaticoduodenal artery' SubClassOf 'pancreaticoduodenal artery' http://purl.obolibrary.org/obo/MONDO_0002824 extrinsic cardiomyopathy 'extrinsic cardiomyopathy' SubClassOf 'cardiomyopathy' 'intrinsic cardiomyopathy' DisjointWith 'extrinsic cardiomyopathy' http://purl.obolibrary.org/obo/UBERON_0002083 ductus venosus 'ductus venosus' SubClassOf 'vein' http://purl.obolibrary.org/obo/UBERON_0002086 sinoatrial valve 'sinoatrial valve' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/MONDO_0002839 leather-bottle stomach 'leather-bottle stomach' SubClassOf 'cancer-related condition' 'leather-bottle stomach' SubClassOf 'stomach disease' http://purl.obolibrary.org/obo/UBERON_0002087 atrioventricular canal 'atrioventricular canal' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0002088 lateral thoracic vein 'lateral thoracic vein' SubClassOf 'thoracic vein' http://purl.obolibrary.org/obo/UBERON_0002089 thoracodorsal vein 'thoracodorsal vein' SubClassOf 'vein' http://purl.obolibrary.org/obo/MONDO_0002837 sarcomatoid transitional cell carcinoma 'sarcomatoid transitional cell carcinoma' SubClassOf 'Sarcomatoid Carcinoma' 'sarcomatoid transitional cell carcinoma' SubClassOf 'Transitional Cell Carcinoma' http://purl.obolibrary.org/obo/UBERON_0002092 brain dura mater 'brain dura mater' SubClassOf 'dura mater' 'brain dura mater' SubClassOf 'brain meninx' http://purl.obolibrary.org/obo/UBERON_0002093 spinal dura mater 'spinal dura mater' SubClassOf 'dura mater' 'spinal dura mater' SubClassOf 'meninx of spinal cord' http://purl.obolibrary.org/obo/MONDO_0002847 skeletal muscle cancer 'skeletal muscle cancer' SubClassOf 'skeletal muscle neoplasm' 'skeletal muscle cancer' SubClassOf 'peripheral nervous system cancer' 'skeletal muscle cancer' SubClassOf 'muscle cancer' http://purl.obolibrary.org/obo/MONDO_0002848 skeletal muscle neoplasm 'skeletal muscle neoplasm' SubClassOf 'Genetic skeletal muscle disease' 'skeletal muscle neoplasm' SubClassOf 'peripheral nervous system neoplasm' http://purl.obolibrary.org/obo/MONDO_0002854 prostate sarcoma 'prostate sarcoma' SubClassOf 'soft tissue sarcoma' 'prostate sarcoma' SubClassOf 'prostate cancer' http://purl.obolibrary.org/obo/MONDO_0002866 duodenal disease 'duodenal disease' SubClassOf 'small intestine disease' http://purl.obolibrary.org/obo/MONDO_0000211 striatal degeneration, autosomal dominant 'striatal degeneration, autosomal dominant' SubClassOf 'striatonigral degeneration' http://purl.obolibrary.org/obo/MONDO_0002874 testicular pure germ cell tumor 'testicular pure germ cell tumor' SubClassOf 'Testicular Germ Cell Tumor' http://purl.obolibrary.org/obo/MONDO_0000210 thiopurine metabolic disease 'thiopurine metabolic disease' SubClassOf 'metabolic disease' 'thiopurine metabolic disease' SubClassOf 'nutritional or metabolic disease' http://purl.obolibrary.org/obo/MONDO_0002875 parasitic ectoparasitic infectious disease 'parasitic ectoparasitic infectious disease' SubClassOf 'parasitic skin disease' http://purl.obolibrary.org/obo/MONDO_0000214 hypermanganesemia with dystonia 'hypermanganesemia with dystonia' SubClassOf 'metabolic disease' 'hypermanganesemia with dystonia' SubClassOf 'nutritional or metabolic disease' http://purl.obolibrary.org/obo/MONDO_0002871 testicular trophoblastic tumor 'testicular trophoblastic tumor' SubClassOf 'Testicular Non-Seminomatous Germ Cell Tumor' 'testicular trophoblastic tumor' SubClassOf 'testicular pure germ cell tumor' 'testicular trophoblastic tumor' SubClassOf 'trophoblastic neoplasm' http://purl.obolibrary.org/obo/MONDO_0002872 trophoblastic neoplasm 'trophoblastic neoplasm' SubClassOf 'germ cell and embryonal cancer' http://purl.obolibrary.org/obo/MONDO_0000212 hypercalcemia, infantile 'hypercalcemia, infantile' SubClassOf 'hypercalcemia disease' http://purl.obolibrary.org/obo/MONDO_0002886 common bile duct disease 'common bile duct disease' SubClassOf 'bile duct disease' http://purl.obolibrary.org/obo/MONDO_0002887 bile duct disease 'bile duct disease' SubClassOf 'biliary tract disease' http://purl.obolibrary.org/obo/MONDO_0002882 colon neuroendocrine neoplasm 'colon neuroendocrine neoplasm' SubClassOf 'intestinal neuroendocrine neoplasm' 'colon neuroendocrine neoplasm' SubClassOf 'colonic neoplasm' http://purl.obolibrary.org/obo/MONDO_0002883 intestinal neuroendocrine neoplasm 'intestinal neuroendocrine neoplasm' SubClassOf 'digestive system neuroendocrine neoplasm' 'intestinal neuroendocrine neoplasm' SubClassOf 'intestinal neoplasm' http://purl.obolibrary.org/obo/MONDO_0002884 nail disease 'nail disease' SubClassOf 'integumentary system disease' 'nail disease' SubClassOf 'limb disorder' http://purl.obolibrary.org/obo/MONDO_0002898 skin cancer 'skin cancer' SubClassOf 'integumentary system cancer' 'skin cancer' SubClassOf 'skin neoplasm' http://purl.obolibrary.org/obo/MONDO_0000255 subcutaneous mycosis 'subcutaneous mycosis' SubClassOf 'cutaneous mycosis' http://purl.obolibrary.org/obo/MONDO_0000254 cutaneous mycosis 'cutaneous mycosis' SubClassOf 'has modifier' some 'localized' 'cutaneous mycosis' SubClassOf 'integumentary system disease' 'cutaneous mycosis' SubClassOf 'fungal infectious disease' http://purl.obolibrary.org/obo/MONDO_0000253 piedra 'piedra' SubClassOf 'disease of pilosebaceous unit' 'piedra' SubClassOf 'skin appendage disease' 'piedra' SubClassOf 'superficial mycosis' http://purl.obolibrary.org/obo/MONDO_0000256 systemic mycosis 'systemic mycosis' SubClassOf 'has modifier' some 'disseminated' 'systemic mycosis' EquivalentTo 'fungal infectious disease' and ('has modifier' some 'disseminated') 'systemic mycosis' SubClassOf 'fungal infectious disease' http://purl.obolibrary.org/obo/MONDO_0000265 aspiration pneumonia (disease) 'aspiration pneumonia (disease)' SubClassOf 'pneumonia' http://purl.obolibrary.org/obo/MONDO_0000263 laryngotracheitis 'laryngotracheitis' SubClassOf 'tracheitis' 'laryngotracheitis' SubClassOf 'laryngitis' http://purl.obolibrary.org/obo/MONDO_0024236 degenerative disorder 'degenerative disorder' SubClassOf 'disease' http://purl.obolibrary.org/obo/MONDO_0024239 congenital anomaly of cardiovascular system 'congenital anomaly of cardiovascular system' SubClassOf 'disorder of development or morphogenesis' 'congenital anomaly of cardiovascular system' SubClassOf 'cardiovascular disease' http://purl.obolibrary.org/obo/MONDO_0000275 monogenic disease 'monogenic disease' SubClassOf 'inherited genetic disease' http://purl.obolibrary.org/obo/MONDO_0000045 hypothyroidism, congenital, nongoitrous 'hypothyroidism, congenital, nongoitrous' SubClassOf 'Congenital hypothyroidism' http://purl.obolibrary.org/obo/MONDO_0000044 hereditary hypophosphatemic rickets 'hereditary hypophosphatemic rickets' SubClassOf 'Genetic renal tubular disease' 'hereditary hypophosphatemic rickets' SubClassOf 'rickets' 'hereditary hypophosphatemic rickets' EquivalentTo 'Hypophosphatemic rickets' and ('has modifier' some 'inherited') 'hereditary hypophosphatemic rickets' SubClassOf 'Disorders of vitamin D metabolism' http://purl.obolibrary.org/obo/UBERON_0004509 skeletal muscle tissue of trapezius 'skeletal muscle tissue of trapezius' SubClassOf 'skeletal muscle tissue' http://purl.obolibrary.org/obo/UBERON_0004508 skeletal muscle tissue of levator palpebrae superioris 'skeletal muscle tissue of levator palpebrae superioris' SubClassOf 'skeletal muscle tissue of eye' http://purl.obolibrary.org/obo/UBERON_0004505 skeletal muscle tissue of orbicularis oculi 'skeletal muscle tissue of orbicularis oculi' SubClassOf 'skeletal muscle tissue of eye' http://purl.obolibrary.org/obo/UBERON_0004504 skeletal muscle tissue of mylohyoid 'skeletal muscle tissue of mylohyoid' SubClassOf 'skeletal muscle tissue' http://purl.obolibrary.org/obo/UBERON_0004507 skeletal muscle tissue of temporalis 'skeletal muscle tissue of temporalis' SubClassOf 'skeletal muscle tissue' http://purl.obolibrary.org/obo/UBERON_0004506 skeletal muscle tissue of masseter 'skeletal muscle tissue of masseter' SubClassOf 'skeletal muscle tissue' http://purl.obolibrary.org/obo/MONDO_0000050 isolated congenital growth hormone deficiency 'isolated congenital growth hormone deficiency' SubClassOf 'Non-acquired pituitary hormone deficiency' 'isolated congenital growth hormone deficiency' SubClassOf 'hypopituitarism' http://purl.obolibrary.org/obo/UBERON_0004501 skeletal muscle tissue of teres major 'skeletal muscle tissue of teres major' SubClassOf 'skeletal muscle tissue' http://purl.obolibrary.org/obo/UBERON_0004500 skeletal muscle tissue of deltoid 'skeletal muscle tissue of deltoid' SubClassOf 'skeletal muscle tissue' http://purl.obolibrary.org/obo/UBERON_0004503 skeletal muscle tissue of digastric 'skeletal muscle tissue of digastric' SubClassOf 'skeletal muscle tissue' http://purl.obolibrary.org/obo/UBERON_0004502 skeletal muscle tissue of biceps brachii 'skeletal muscle tissue of biceps brachii' SubClassOf 'skeletal muscle tissue' http://purl.obolibrary.org/obo/UBERON_6017021 abdominal histoblast anlage 'abdominal histoblast anlage' SubClassOf 'embryonic structure' 'abdominal histoblast anlage' SubClassOf 'anlage' http://purl.obolibrary.org/obo/UBERON_0004519 muscle of anal triangle 'muscle of anal triangle' SubClassOf 'perineal muscle' http://purl.obolibrary.org/obo/MONDO_0000066 mitochondrial complex deficiency 'mitochondrial complex deficiency' SubClassOf 'inborn mitochondrial metabolism disorder' http://purl.obolibrary.org/obo/MONDO_0000065 microvascular complications of diabetes, susceptibility 'microvascular complications of diabetes, susceptibility' SubClassOf 'predisposes towards' some 'diabetic retinopathy' 'microvascular complications of diabetes, susceptibility' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'diabetic retinopathy') 'microvascular complications of diabetes, susceptibility' SubClassOf 'inherited disease susceptibility' http://purl.obolibrary.org/obo/UBERON_0004516 smooth muscle tissue of terminal bronchiole 'smooth muscle tissue of terminal bronchiole' SubClassOf 'smooth muscle tissue of bronchiole' http://purl.obolibrary.org/obo/UBERON_0004515 smooth muscle tissue of bronchiole 'smooth muscle tissue of bronchiole' SubClassOf 'bronchus smooth muscle' http://purl.obolibrary.org/obo/UBERON_0004518 muscle of vertebral column 'muscle of vertebral column' SubClassOf 'skeletal muscle organ' http://purl.obolibrary.org/obo/UBERON_0004517 smooth muscle tissue of respiratory bronchiole 'smooth muscle tissue of respiratory bronchiole' SubClassOf 'smooth muscle tissue of bronchiole' http://purl.obolibrary.org/obo/MONDO_0000060 microcephalic osteodysplastic primordial dwarfism 'microcephalic osteodysplastic primordial dwarfism' SubClassOf 'microcephaly (disease)' http://purl.obolibrary.org/obo/UBERON_0016501 muscularis mucosae of fundus of stomach 'muscularis mucosae of fundus of stomach' SubClassOf 'muscularis mucosae of stomach' http://purl.obolibrary.org/obo/MONDO_0000062 isolated microphthalmia 'isolated microphthalmia' SubClassOf 'has modifier' some 'has an isolated presentation' 'isolated microphthalmia' SubClassOf 'microphthalmia' 'isolated microphthalmia' EquivalentTo 'microphthalmia' and ('has modifier' some 'has an isolated presentation') http://purl.obolibrary.org/obo/UBERON_0016500 muscularis mucosa of fundus of urinary bladder 'muscularis mucosa of fundus of urinary bladder' SubClassOf 'urinary bladder muscularis mucosa' http://purl.obolibrary.org/obo/UBERON_0016505 Mullerian tubercle 'Mullerian tubercle' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0016508 pelvic ganglion 'pelvic ganglion' SubClassOf 'prevertebral ganglion' http://purl.obolibrary.org/obo/UBERON_0004512 skeletal muscle tissue of supraspinatus 'skeletal muscle tissue of supraspinatus' SubClassOf 'skeletal muscle tissue' http://purl.obolibrary.org/obo/UBERON_0004511 skeletal muscle tissue of rectus abdominis 'skeletal muscle tissue of rectus abdominis' SubClassOf 'skeletal muscle tissue of trunk' http://purl.obolibrary.org/obo/UBERON_0004514 skeletal muscle tissue of transversus thoracis 'skeletal muscle tissue of transversus thoracis' SubClassOf 'skeletal muscle tissue of trunk' http://purl.obolibrary.org/obo/UBERON_0004513 skeletal muscle tissue of internal intercostal muscle 'skeletal muscle tissue of internal intercostal muscle' SubClassOf 'skeletal muscle tissue of trunk' http://purl.obolibrary.org/obo/UBERON_0004510 skeletal muscle tissue of pectoralis major 'skeletal muscle tissue of pectoralis major' SubClassOf 'skeletal muscle tissue of trunk' http://purl.obolibrary.org/obo/MONDO_0000078 acrocephalopolysyndactyly 'acrocephalopolysyndactyly' SubClassOf 'Acrocephalosyndactyly' http://purl.obolibrary.org/obo/MONDO_0000070 mycobacterium tuberculosis, susceptibility 'mycobacterium tuberculosis, susceptibility' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'Tuberculosis') 'mycobacterium tuberculosis, susceptibility' SubClassOf 'Genetic susceptibility to infections due to particular pathogens' 'mycobacterium tuberculosis, susceptibility' SubClassOf 'predisposes towards' some 'Tuberculosis' http://purl.obolibrary.org/obo/MONDO_0000075 neuronopathy, distal hereditary motor 'neuronopathy, distal hereditary motor' SubClassOf 'motor neuron disease' http://purl.obolibrary.org/obo/MONDO_0012057 legionnaire disease, susceptibility to 'legionnaire disease, susceptibility to' SubClassOf 'Genetic susceptibility to infections due to particular pathogens' 'legionnaire disease, susceptibility to' SubClassOf 'predisposes towards' some 'Legionnaires' disease' 'legionnaire disease, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'Legionnaires' disease') http://purl.obolibrary.org/obo/UBERON_0004522 vasculature of musculoskeletal system 'vasculature of musculoskeletal system' SubClassOf 'vasculature' http://purl.obolibrary.org/obo/UBERON_0004521 vasculature of muscle organ 'vasculature of muscle organ' SubClassOf 'vasculature of organ' 'vasculature of muscle organ' SubClassOf 'vasculature of musculoskeletal system' http://purl.obolibrary.org/obo/UBERON_0004520 striated muscle tissue of prostate 'striated muscle tissue of prostate' SubClassOf 'skeletal muscle tissue' http://purl.obolibrary.org/obo/MONDO_0000088 precocious puberty 'precocious puberty' SubClassOf 'gonadal disease' 'precocious puberty' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0000090 progressive external ophthalmoplegia with mitochondrial DNA deletions 'progressive external ophthalmoplegia with mitochondrial DNA deletions' SubClassOf 'progressive external ophthalmoplegia' http://purl.obolibrary.org/obo/UBERON_0016564 deep cerebral vein 'deep cerebral vein' SubClassOf 'cerebral vein' http://purl.obolibrary.org/obo/UBERON_0016565 cerebral blood vessel 'cerebral blood vessel' SubClassOf 'brain blood vessel' http://purl.obolibrary.org/obo/UBERON_0004572 arterial system 'arterial system' SubClassOf 'anatomical system' http://purl.obolibrary.org/obo/UBERON_0004571 systemic arterial system 'systemic arterial system' SubClassOf 'anatomical system' http://purl.obolibrary.org/obo/UBERON_0004573 systemic artery 'pulmonary artery' DisjointWith 'systemic artery' 'systemic artery' SubClassOf 'artery' http://purl.obolibrary.org/obo/UBERON_0016559 superficial cerebral vein 'superficial cerebral vein' SubClassOf 'cerebral vein' 'superficial cerebral vein' SubClassOf 'superficial vein' http://purl.obolibrary.org/obo/UBERON_0016553 respiratory system mucus 'respiratory system mucus' SubClassOf 'mucus' http://purl.obolibrary.org/obo/UBERON_0004581 systemic venous system 'systemic venous system' SubClassOf 'vasculature' http://purl.obolibrary.org/obo/UBERON_0004582 venous system 'venous system' SubClassOf 'anatomical system' http://purl.obolibrary.org/obo/UBERON_0004538 left kidney 'left kidney' SubClassOf 'kidney' http://purl.obolibrary.org/obo/UBERON_0004537 blood vasculature 'blood vasculature' SubClassOf 'vasculature' http://purl.obolibrary.org/obo/UBERON_0004539 right kidney 'right kidney' SubClassOf 'kidney' http://purl.obolibrary.org/obo/UBERON_0016520 epithelium of female urethra 'epithelium of female urethra' SubClassOf 'epithelium of urethra' http://purl.obolibrary.org/obo/UBERON_0004534 right testis 'right testis' SubClassOf 'testis' http://purl.obolibrary.org/obo/UBERON_0004533 left testis 'left testis' SubClassOf 'testis' http://purl.obolibrary.org/obo/UBERON_0004536 lymph vasculature 'lymph vasculature' SubClassOf 'vasculature' http://purl.obolibrary.org/obo/UBERON_0004549 right eye 'right eye' SubClassOf 'eye' http://purl.obolibrary.org/obo/UBERON_0004548 left eye 'left eye' SubClassOf 'eye' http://purl.obolibrary.org/obo/UBERON_0016510 epithelium of male urethra 'epithelium of male urethra' SubClassOf 'epithelium of urethra' http://purl.obolibrary.org/obo/UBERON_0016519 muscularis mucosae of jejunum 'muscularis mucosae of jejunum' SubClassOf 'muscularis mucosae of small intestine' http://purl.obolibrary.org/obo/UBERON_0004544 epididymis epithelium 'epididymis epithelium' SubClassOf 'simple columnar epithelium' 'epididymis epithelium' SubClassOf 'meso-epithelium' 'epididymis epithelium' SubClassOf 'epithelial layer of duct' http://purl.obolibrary.org/obo/UBERON_0004540 proper plantar digital artery 'proper plantar digital artery' SubClassOf 'plantar digital artery' http://purl.obolibrary.org/obo/UBERON_0016545 pharyngeal ectoderm 'pharyngeal ectoderm' SubClassOf 'pharyngeal epithelium' 'pharyngeal ectoderm' SubClassOf 'unilaminar epithelium' http://purl.obolibrary.org/obo/UBERON_0016547 lower foregut region endoderm 'lower foregut region endoderm' SubClassOf 'digestive tract epithelium' 'lower foregut region endoderm' SubClassOf 'unilaminar epithelium' 'lower foregut region endoderm' SubClassOf 'endo-epithelium' http://purl.obolibrary.org/obo/UBERON_0004552 digital artery 'digital artery' SubClassOf 'limb blood vessel' 'digital artery' SubClassOf 'artery' http://purl.obolibrary.org/obo/UBERON_0004554 hindlimb digital artery 'hindlimb digital artery' SubClassOf 'digital artery' 'hindlimb digital artery' SubClassOf 'hindlimb blood vessel' http://purl.obolibrary.org/obo/UBERON_0004553 forelimb digital artery 'forelimb digital artery' SubClassOf 'digital artery' 'forelimb digital artery' SubClassOf 'manual digit blood vessel' http://purl.obolibrary.org/obo/UBERON_0004561 proper palmar digital vein 'proper palmar digital vein' SubClassOf 'forelimb digital vein' http://purl.obolibrary.org/obo/UBERON_0004563 forelimb digital vein 'forelimb digital vein' SubClassOf 'manus blood vessel' 'forelimb digital vein' SubClassOf 'digital vein' http://purl.obolibrary.org/obo/UBERON_0004562 digital vein 'digital vein' SubClassOf 'vein' 'digital vein' SubClassOf 'limb blood vessel' http://purl.obolibrary.org/obo/UBERON_0004564 hindlimb digital vein 'hindlimb digital vein' SubClassOf 'digital vein' 'hindlimb digital vein' SubClassOf 'pes blood vessel' http://purl.obolibrary.org/obo/MONDO_0002708 retinitis 'retinitis' SubClassOf 'retinopathy' 'retinitis' SubClassOf 'posterior uveitis' http://purl.obolibrary.org/obo/MONDO_0002715 uterine cancer 'uterine cancer' SubClassOf 'tumor of uterus' 'uterine cancer' SubClassOf 'female reproductive organ cancer' http://purl.obolibrary.org/obo/MONDO_0002720 sella turcica neoplasm 'sella turcica neoplasm' SubClassOf 'skull base neoplasm' http://purl.obolibrary.org/obo/MONDO_0002721 necrosis of pituitary 'necrosis of pituitary' SubClassOf 'pituitary gland disease' http://purl.obolibrary.org/obo/MONDO_0002722 olfactory nerve neoplasm 'olfactory nerve neoplasm' SubClassOf 'brain neoplasm' 'olfactory nerve neoplasm' SubClassOf 'cranial nerve neoplasm' 'olfactory nerve neoplasm' SubClassOf 'olfactory nerve disease' http://purl.obolibrary.org/obo/MONDO_0002727 olfactory nerve disease 'olfactory nerve disease' SubClassOf 'cranial nerve neuropathy' 'olfactory nerve disease' SubClassOf 'peripheral nervous system disease' 'olfactory nerve disease' SubClassOf 'brain disease' http://purl.obolibrary.org/obo/MONDO_0002732 lung benign neoplasm 'lung benign neoplasm' SubClassOf 'thoracic benign neoplasm' 'lung benign neoplasm' SubClassOf 'lung neoplasm' 'lung benign neoplasm' SubClassOf 'respiratory system benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0002742 cervical mucinous adenocarcinoma 'cervical mucinous adenocarcinoma' SubClassOf 'mucinous carcinoma' 'cervical mucinous adenocarcinoma' SubClassOf 'cervical adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0002746 fallopian tube adenocarcinoma 'fallopian tube adenocarcinoma' SubClassOf 'adenocarcinoma' 'fallopian tube adenocarcinoma' SubClassOf 'Fallopian Tube Carcinoma' http://purl.obolibrary.org/obo/MONDO_0002749 extracranial neuroblastoma 'extracranial neuroblastoma' SubClassOf 'neuroblastoma' http://purl.obolibrary.org/obo/MONDO_0000104 anemia, hypochromic microcytic with iron overload 'anemia, hypochromic microcytic with iron overload' SubClassOf 'hypochromic microcytic anemia (disease)' http://purl.obolibrary.org/obo/MONDO_0014741 facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation 'facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation' SubClassOf 'WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome' http://purl.obolibrary.org/obo/MONDO_0000111 camptodactyly syndrome, Guadalajara 'camptodactyly syndrome, Guadalajara' SubClassOf 'inherited genetic disease' http://purl.obolibrary.org/obo/MONDO_0000110 bifid nose 'bifid nose' SubClassOf 'nose and cavum anomaly' 'bifid nose' SubClassOf 'median facial cleft' 'bifid nose' SubClassOf 'genetic otorhinolaryngological malformation' http://purl.obolibrary.org/obo/MONDO_0000115 Chiari malformation 'Chiari malformation' SubClassOf 'inherited genetic disease' http://purl.obolibrary.org/obo/MONDO_0000114 cerebelloparenchymal disorder 'cerebelloparenchymal disorder' SubClassOf 'inherited genetic disease' http://purl.obolibrary.org/obo/MONDO_0000118 reticulate pigment disorder 'reticulate pigment disorder' SubClassOf 'pigmentation disease' http://purl.obolibrary.org/obo/MONDO_0002786 diencephalic cancer 'diencephalic cancer' SubClassOf 'supratentorial cancer' http://purl.obolibrary.org/obo/MONDO_0002785 skull base neoplasm 'skull base neoplasm' SubClassOf 'skull neoplasm' http://purl.obolibrary.org/obo/MONDO_0014769 inherited oocyte maturation defect 'inherited oocyte maturation defect' SubClassOf 'Genetic infertility' http://purl.obolibrary.org/obo/MONDO_0012104 acquired partial lipodystrophy 'acquired partial lipodystrophy' SubClassOf 'Developmental anomaly of metabolic origin' 'acquired partial lipodystrophy' SubClassOf 'progeroid syndrome' 'acquired partial lipodystrophy' SubClassOf 'partial lipodystrophy' 'acquired partial lipodystrophy' SubClassOf 'acquired lipodystrophy' 'acquired partial lipodystrophy' EquivalentTo 'partial lipodystrophy' and ('has modifier' some 'acquired') http://purl.obolibrary.org/obo/MONDO_0000129 glutaric aciduria (disease) 'glutaric aciduria (disease)' SubClassOf 'nutritional or metabolic disease' 'glutaric aciduria (disease)' SubClassOf 'metabolic disease' http://purl.obolibrary.org/obo/MONDO_0000138 metaphyseal chondrodysplasia (disease) 'metaphyseal chondrodysplasia (disease)' SubClassOf 'metaphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0000137 leukoencephalopathy, megalencephalic 'leukoencephalopathy, megalencephalic' SubClassOf 'brain disease' http://purl.obolibrary.org/obo/MONDO_0014778 lamb-Shaffer syndrome; LAMSHF 'lamb-Shaffer syndrome; LAMSHF' SubClassOf 'inherited genetic disease' http://purl.obolibrary.org/obo/MONDO_0000148 pulmonary fibrosis and/or bone marrow failure, Telomere-related 'pulmonary fibrosis and/or bone marrow failure, Telomere-related' SubClassOf 'pulmonary fibrosis' 'pulmonary fibrosis and/or bone marrow failure, Telomere-related' SubClassOf 'bone marrow disease' http://purl.obolibrary.org/obo/MONDO_0000147 polyposis 'polyposis' SubClassOf 'neoplastic polyp' http://purl.obolibrary.org/obo/UBERON_6005036 tracheal pit 'tracheal pit' SubClassOf 'tracheal primordium' http://purl.obolibrary.org/obo/MONDO_0000156 trigonocephaly 'trigonocephaly' SubClassOf 'dysostosis' http://purl.obolibrary.org/obo/MONDO_0000153 transposition of the great arteries 'transposition of the great arteries' SubClassOf 'transposition of the great arteries and conotruncal cardiac anomaly' http://purl.obolibrary.org/obo/MONDO_0000159 bone marrow failure syndrome 'bone marrow failure syndrome' SubClassOf 'bone marrow disease' http://purl.obolibrary.org/obo/MONDO_0000152 thiamine-responsive dysfunction syndrome 'thiamine-responsive dysfunction syndrome' SubClassOf 'Disorder of thiamine metabolism and transport' http://purl.obolibrary.org/obo/MONDO_0000151 symphalangism 'symphalangism' SubClassOf 'skeletal system disease' http://purl.obolibrary.org/obo/MONDO_0002586 thymus cancer 'thymus cancer' SubClassOf 'thoracic cancer' 'thymus cancer' SubClassOf 'thymus neoplasm' 'thymus cancer' SubClassOf 'malignant endocrine neoplasm' 'thymus cancer' SubClassOf 'immune system cancer' http://purl.obolibrary.org/obo/MONDO_0002597 notochordal tumor 'notochordal tumor' SubClassOf 'embryonal neoplasm' 'notochordal tumor' SubClassOf 'bone neoplasm' http://purl.obolibrary.org/obo/UBERON_2000127 antorbital 'antorbital' SubClassOf 'facial bone' 'antorbital' SubClassOf 'dermal bone' http://purl.obolibrary.org/obo/UBERON_2000103 supramaxilla 'supramaxilla' SubClassOf 'bone of upper jaw' 'supramaxilla' SubClassOf 'dermal bone' http://purl.obolibrary.org/obo/UBERON_2000104 suprapreopercle 'suprapreopercle' SubClassOf 'dermal bone' http://purl.obolibrary.org/obo/UBERON_0016446 hair of head 'hair of head' SubClassOf 'strand of hair' http://purl.obolibrary.org/obo/UBERON_0016447 hair of trunk 'hair of trunk' SubClassOf 'strand of hair' http://purl.obolibrary.org/obo/UBERON_0016442 median palatine suture 'median palatine suture' SubClassOf 'suture of hard palate' http://purl.obolibrary.org/obo/UBERON_0004451 trunk or cervical vertebra 'trunk or cervical vertebra' SubClassOf 'vertebra' http://purl.obolibrary.org/obo/UBERON_0004450 gastric vein 'gastric vein' SubClassOf 'vein' 'gastric vein' SubClassOf 'trunk blood vessel' http://purl.obolibrary.org/obo/UBERON_0004456 entire sense organ system 'reproductive system' DisjointWith 'entire sense organ system' 'renal system' DisjointWith 'entire sense organ system' 'gustatory system' DisjointWith 'entire sense organ system' 'nervous system' DisjointWith 'entire sense organ system' 'musculoskeletal system' DisjointWith 'entire sense organ system' 'circulatory system' DisjointWith 'entire sense organ system' 'immune system' DisjointWith 'entire sense organ system' 'digestive system' DisjointWith 'entire sense organ system' 'hematopoietic system' DisjointWith 'entire sense organ system' 'biliary system' DisjointWith 'entire sense organ system' 'entire sense organ system' SubClassOf 'anatomical system' 'skeletal system' DisjointWith 'entire sense organ system' 'respiratory system' DisjointWith 'entire sense organ system' 'endocrine system' DisjointWith 'entire sense organ system' 'hepatobiliary system' DisjointWith 'entire sense organ system' 'exocrine system' DisjointWith 'entire sense organ system' 'integumental system' DisjointWith 'entire sense organ system' http://purl.obolibrary.org/obo/UBERON_0004455 neurula embryo 'neurula embryo' SubClassOf 'embryo' http://purl.obolibrary.org/obo/UBERON_0016430 palmar branch of median nerve 'palmar branch of median nerve' SubClassOf 'arm nerve' http://purl.obolibrary.org/obo/UBERON_2000156 somite 20 'somite 20' SubClassOf 'somite' http://purl.obolibrary.org/obo/UBERON_2000157 somite 30 'somite 30' SubClassOf 'somite' http://purl.obolibrary.org/obo/UBERON_0004462 musculature of body wall 'musculature of body wall' SubClassOf 'musculature' http://purl.obolibrary.org/obo/UBERON_0004461 skeletal musculature of head 'skeletal musculature of head' SubClassOf 'craniocervical region musculature' http://purl.obolibrary.org/obo/UBERON_0004468 set of muscles of vertebral column 'set of muscles of vertebral column' SubClassOf 'musculature' http://purl.obolibrary.org/obo/UBERON_0004467 musculature of pharynx 'musculature of pharynx' SubClassOf 'musculature' http://purl.obolibrary.org/obo/UBERON_0004469 musculature of back 'musculature of back' SubClassOf 'musculature' http://purl.obolibrary.org/obo/UBERON_0004464 musculature of thorax 'musculature of thorax' SubClassOf 'musculature of trunk' http://purl.obolibrary.org/obo/UBERON_0004463 musculature of hindlimb stylopod 'musculature of hindlimb stylopod' SubClassOf 'musculature of leg' http://purl.obolibrary.org/obo/UBERON_0004466 musculature of leg 'musculature of leg' SubClassOf 'musculature of lower limb' http://purl.obolibrary.org/obo/UBERON_0004465 musculature of neck 'musculature of neck' SubClassOf 'craniocervical region musculature' http://purl.obolibrary.org/obo/UBERON_0016462 periorbital skin 'periorbital skin' SubClassOf 'skin of face' http://purl.obolibrary.org/obo/UBERON_0004471 musculature of pectoral girdle 'musculature of pectoral girdle' SubClassOf 'musculature of pectoral complex' http://purl.obolibrary.org/obo/UBERON_0004470 musculature of pelvic girdle 'musculature of pelvic girdle' SubClassOf 'musculature of pelvic complex' 'musculature of pelvic girdle' SubClassOf 'musculature of trunk' http://purl.obolibrary.org/obo/UBERON_0004473 musculature of face 'musculature of face' SubClassOf 'craniocervical region musculature' http://purl.obolibrary.org/obo/UBERON_0004479 musculature of trunk 'musculature of trunk' SubClassOf 'musculature' http://purl.obolibrary.org/obo/UBERON_0004478 musculature of larynx 'musculature of larynx' SubClassOf 'musculature' http://purl.obolibrary.org/obo/UBERON_0004475 musculature of hip 'musculature of hip' SubClassOf 'musculature' http://purl.obolibrary.org/obo/UBERON_0004474 musculature of arm 'musculature of arm' SubClassOf 'musculature of upper limb' http://purl.obolibrary.org/obo/UBERON_0004476 musculature of shoulder 'musculature of shoulder' SubClassOf 'musculature' http://purl.obolibrary.org/obo/UBERON_0016452 upper secondary premolar tooth 'upper secondary premolar tooth' SubClassOf 'secondary premolar tooth' 'upper secondary premolar tooth' SubClassOf 'upper premolar tooth' 'upper secondary premolar tooth' SubClassOf 'secondary upper tooth' http://purl.obolibrary.org/obo/UBERON_0016453 lower secondary premolar tooth 'lower secondary premolar tooth' SubClassOf 'lower premolar tooth' 'lower secondary premolar tooth' SubClassOf 'permanent lower tooth' 'lower secondary premolar tooth' SubClassOf 'secondary premolar tooth' http://purl.obolibrary.org/obo/UBERON_0016454 upper central secondary incisor tooth 'upper central secondary incisor tooth' SubClassOf 'upper secondary incisor tooth' 'upper central secondary incisor tooth' SubClassOf 'upper central incisor tooth' http://purl.obolibrary.org/obo/UBERON_0016455 upper lateral secondary incisor tooth 'upper lateral secondary incisor tooth' SubClassOf 'upper lateral incisor tooth' 'upper lateral secondary incisor tooth' SubClassOf 'upper secondary incisor tooth' http://purl.obolibrary.org/obo/UBERON_0004482 musculature of lower limb 'musculature of lower limb' SubClassOf 'pelvic appendage musculature' 'musculature of lower limb' SubClassOf 'musculature of limb' http://purl.obolibrary.org/obo/UBERON_0004481 musculature of upper limb 'musculature of upper limb' SubClassOf 'musculature of limb' 'musculature of upper limb' SubClassOf 'pectoral appendage musculature' http://purl.obolibrary.org/obo/UBERON_0004480 musculature of limb 'musculature of limb' SubClassOf 'appendage musculature' http://purl.obolibrary.org/obo/UBERON_0004489 musculature of manus 'musculature of manus' SubClassOf 'musculature of upper limb' http://purl.obolibrary.org/obo/UBERON_0004486 musculature of perineum 'musculature of perineum' SubClassOf 'musculature of trunk' http://purl.obolibrary.org/obo/UBERON_0004488 musculature of pes 'musculature of pes' SubClassOf 'musculature of lower limb' http://purl.obolibrary.org/obo/UBERON_0004487 musculature of forelimb zeugopod 'musculature of forelimb zeugopod' SubClassOf 'musculature of arm' http://purl.obolibrary.org/obo/UBERON_0016402 mesocolic lymph node 'mesocolic lymph node' SubClassOf 'visceral abdominal lymph node' http://purl.obolibrary.org/obo/UBERON_0016404 cervical vertebral arch joint 'cervical vertebral arch joint' SubClassOf 'vertebral arch joint' http://purl.obolibrary.org/obo/UBERON_0016405 pulmonary capillary 'pulmonary capillary' SubClassOf 'lung blood vessel' 'pulmonary capillary' SubClassOf 'respiratory system capillary' http://purl.obolibrary.org/obo/UBERON_0016400 infrapatellar fat pad 'infrapatellar fat pad' SubClassOf 'fat pad' http://purl.obolibrary.org/obo/UBERON_0016401 pancreaticoduodenal lymph node 'pancreaticoduodenal lymph node' SubClassOf 'visceral abdominal lymph node' http://purl.obolibrary.org/obo/UBERON_2000195 dorsal depressor muscle 'dorsal depressor muscle' SubClassOf 'depressor muscle' http://purl.obolibrary.org/obo/UBERON_2000196 dorsal hypohyal bone 'dorsal hypohyal bone' SubClassOf 'endochondral bone' http://purl.obolibrary.org/obo/UBERON_3011048 genital system 'genital system' SubClassOf 'anatomical system' http://purl.obolibrary.org/obo/UBERON_0016426 proximal interphalangeal joint of little finger 'proximal interphalangeal joint of little finger' SubClassOf 'interphalangeal joint of manual digit 5' 'proximal interphalangeal joint of little finger' SubClassOf 'proximal interphalangeal joint' http://purl.obolibrary.org/obo/UBERON_3011045 gasserian ganglion 'gasserian ganglion' SubClassOf 'ganglion' http://purl.obolibrary.org/obo/UBERON_3011040 first pancreatic bud 'first pancreatic bud' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0004449 cerebral artery 'cerebral artery' SubClassOf 'systemic artery' http://purl.obolibrary.org/obo/UBERON_2000171 interhyal bone 'interhyal bone' SubClassOf 'endochondral bone' http://purl.obolibrary.org/obo/UBERON_0016410 male breast 'male breast' SubClassOf 'breast' http://purl.obolibrary.org/obo/UBERON_2000177 caudal oblique 'caudal oblique' SubClassOf 'branchial muscle' http://purl.obolibrary.org/obo/UBERON_0016481 bronchial lymph node 'bronchial lymph node' SubClassOf 'lymph node' http://purl.obolibrary.org/obo/UBERON_0004495 skeletal muscle tissue of diaphragm 'skeletal muscle tissue of diaphragm' SubClassOf 'skeletal muscle tissue of trunk' 'skeletal muscle tissue of diaphragm' SubClassOf 'respiratory system skeletal muscle' http://purl.obolibrary.org/obo/UBERON_0004497 skeletal muscle tissue of gluteus maximus 'skeletal muscle tissue of gluteus maximus' SubClassOf 'skeletal muscle tissue of trunk' http://purl.obolibrary.org/obo/UBERON_0004496 skeletal muscle tissue of iliacus 'skeletal muscle tissue of iliacus' SubClassOf 'skeletal muscle tissue of trunk' http://purl.obolibrary.org/obo/UBERON_0004499 skeletal muscle tissue of tibialis anterior 'skeletal muscle tissue of tibialis anterior' SubClassOf 'skeletal muscle tissue' http://purl.obolibrary.org/obo/UBERON_0004498 skeletal muscle tissue of quadriceps femoris 'skeletal muscle tissue of quadriceps femoris' SubClassOf 'skeletal muscle tissue' http://purl.obolibrary.org/obo/UBERON_0016475 skin of forehead 'skin of forehead' SubClassOf 'skin of face' http://purl.obolibrary.org/obo/UBERON_0016476 primary incisor tooth 'primary incisor tooth' SubClassOf 'incisor tooth' 'primary incisor tooth' SubClassOf 'deciduous tooth' http://purl.obolibrary.org/obo/MONDO_0002601 teratoma 'teratoma' SubClassOf 'has modifier' some 'rare' 'teratoma' SubClassOf 'nongerminomatous germ cell tumor' 'teratoma' SubClassOf 'germ cell and embryonal cancer' http://purl.obolibrary.org/obo/MONDO_0002604 pericytic neoplasm 'pericytic neoplasm' SubClassOf 'mesenchymal cell neoplasm' http://purl.obolibrary.org/obo/MONDO_0002610 purpura (disease) 'purpura (disease)' SubClassOf 'hemorrhagic disease' http://purl.obolibrary.org/obo/UBERON_0016493 palmaris longus muscle 'palmaris longus muscle' SubClassOf 'forelimb muscle' http://purl.obolibrary.org/obo/MONDO_0002612 frontal lobe epilepsy 'frontal lobe epilepsy' SubClassOf 'partial epilepsy' http://purl.obolibrary.org/obo/UBERON_0016490 auditory system 'auditory system' SubClassOf 'mechanosensory system' http://purl.obolibrary.org/obo/MONDO_0002614 bone inflammation disease 'bone inflammation disease' SubClassOf 'bone disease' http://purl.obolibrary.org/obo/MONDO_0002615 xanthomatosis (disease) 'xanthomatosis (disease)' SubClassOf 'disease has feature' some 'xanthoma' 'xanthomatosis (disease)' SubClassOf 'Lipid storage disease' http://purl.obolibrary.org/obo/MONDO_0002616 mesenchymal cell neoplasm 'mesenchymal cell neoplasm' SubClassOf 'neoplasm' http://purl.obolibrary.org/obo/MONDO_0002629 bone osteosarcoma 'bone osteosarcoma' SubClassOf 'bone sarcoma' 'bone osteosarcoma' SubClassOf 'osteosarcoma' http://purl.obolibrary.org/obo/MONDO_0002628 peripheral osteosarcoma 'peripheral osteosarcoma' SubClassOf 'bone osteosarcoma' http://purl.obolibrary.org/obo/MONDO_0002633 cranial nerve neoplasm 'cranial nerve neoplasm' SubClassOf 'head and neck neoplasia' 'cranial nerve neoplasm' SubClassOf 'peripheral nervous system neoplasm' 'cranial nerve neoplasm' SubClassOf 'cranial nerve neuropathy' http://purl.obolibrary.org/obo/MONDO_0002635 periodontal disease 'periodontal disease' SubClassOf 'tooth disease' http://purl.obolibrary.org/obo/MONDO_0014618 retinitis pigmentosa 71 'retinitis pigmentosa 71' SubClassOf 'Retinitis pigmentosa' http://purl.obolibrary.org/obo/MONDO_0002647 laryngitis 'laryngitis' SubClassOf 'inflammatory disease' 'laryngitis' SubClassOf 'laryngeal disease' http://purl.obolibrary.org/obo/MONDO_0002654 uterine disease 'uterine disease' SubClassOf 'female reproductive system disease' http://purl.obolibrary.org/obo/MONDO_0002665 extrahepatic bile duct adenocarcinoma 'extrahepatic bile duct adenocarcinoma' SubClassOf 'bile duct adenocarcinoma' 'extrahepatic bile duct adenocarcinoma' SubClassOf 'extrahepatic bile duct carcinoma' http://purl.obolibrary.org/obo/MONDO_0002661 uveal disease 'uveal disease' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/MONDO_0000005 alopecia, isolated 'alopecia, isolated' SubClassOf 'genetic alopecia' 'alopecia, isolated' SubClassOf 'Alopecia' http://purl.obolibrary.org/obo/MONDO_0002664 extrahepatic bile duct signet ring cell carcinoma 'extrahepatic bile duct signet ring cell carcinoma' SubClassOf 'signet ring cell carcinoma' 'extrahepatic bile duct signet ring cell carcinoma' SubClassOf 'extrahepatic bile duct adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0000009 inherited bleeding disorder, platelet-type 'inherited bleeding disorder, platelet-type' SubClassOf 'blood platelet disease' 'inherited bleeding disorder, platelet-type' SubClassOf 'hemorrhagic disease' 'inherited bleeding disorder, platelet-type' SubClassOf 'inherited genetic disease' http://purl.obolibrary.org/obo/MONDO_0002679 cerebral infarction 'cerebral infarction' SubClassOf 'brain infarction' http://purl.obolibrary.org/obo/MONDO_0000015 classic complement early component deficiency 'classic complement early component deficiency' SubClassOf 'complement deficiency' http://purl.obolibrary.org/obo/MONDO_0000014 colorblindness, partial 'colorblindness, partial' SubClassOf 'Color-vision disease' http://purl.obolibrary.org/obo/MONDO_0000023 infantile liver failure 'infantile liver failure' SubClassOf 'Genetic parenchymatous liver disease' http://purl.obolibrary.org/obo/MONDO_0000032 febrile seizures, familial 'febrile seizures, familial' SubClassOf 'inherited genetic disease' http://purl.obolibrary.org/obo/MONDO_0002691 liver cancer 'liver cancer' SubClassOf 'liver neoplasm' 'liver cancer' SubClassOf 'digestive system cancer' 'liver cancer' SubClassOf 'liver and intrahepatic bile duct neoplasm' 'liver cancer' SubClassOf 'malignant endocrine neoplasm' http://purl.obolibrary.org/obo/UBERON_0006919 tongue squamous epithelium 'tongue squamous epithelium' SubClassOf 'oral epithelium' 'tongue squamous epithelium' SubClassOf 'epithelium of tongue' 'tongue squamous epithelium' SubClassOf 'squamous epithelium' http://purl.obolibrary.org/obo/MONDO_0002468 hyperimmunoglobulin syndrome 'hyperimmunoglobulin syndrome' SubClassOf 'disease of macromolecular complex' 'hyperimmunoglobulin syndrome' SubClassOf 'B cell deficiency' 'hyperimmunoglobulin syndrome' SubClassOf 'inherited genetic disease' http://purl.obolibrary.org/obo/UBERON_0006918 parakeratinized epithelium of tongue 'parakeratinized epithelium of tongue' SubClassOf 'epithelium of tongue' 'parakeratinized epithelium of tongue' SubClassOf 'parakeratinized epithelium' http://purl.obolibrary.org/obo/MONDO_0002463 lacrimal gland carcinoma 'lacrimal gland carcinoma' SubClassOf 'eye carcinoma' 'lacrimal gland carcinoma' SubClassOf 'lacrimal gland cancer' http://purl.obolibrary.org/obo/UBERON_0006915 stratified squamous epithelium 'stratified squamous epithelium' SubClassOf 'squamous epithelium' 'stratified squamous epithelium' SubClassOf 'multilaminar epithelium' http://purl.obolibrary.org/obo/MONDO_0002464 lacrimal gland cancer 'lacrimal gland cancer' SubClassOf 'lacrimal gland neoplasm' 'lacrimal gland cancer' SubClassOf 'lacrimal system cancer' http://purl.obolibrary.org/obo/UBERON_0006916 non-keratinized epithelium of tongue 'non-keratinized epithelium of tongue' SubClassOf 'tongue squamous epithelium' 'non-keratinized epithelium of tongue' SubClassOf 'non-keratinized stratified squamous epithelium' http://purl.obolibrary.org/obo/MONDO_0002465 bronchiolitis (disease) 'bronchiolitis (disease)' SubClassOf 'lung disease' http://purl.obolibrary.org/obo/UBERON_0006913 lip epithelium 'lip epithelium' SubClassOf 'digestive tract epithelium' http://purl.obolibrary.org/obo/MONDO_0002466 eye carcinoma 'eye carcinoma' SubClassOf 'ocular cancer' 'eye carcinoma' SubClassOf 'head and neck carcinoma' http://purl.obolibrary.org/obo/UBERON_0006914 squamous epithelium 'squamous epithelium' SubClassOf 'epithelium' http://purl.obolibrary.org/obo/MONDO_0002460 lacrimal system cancer 'lacrimal system cancer' SubClassOf 'ocular cancer' 'lacrimal system cancer' SubClassOf 'lacrimal apparatus disease' http://purl.obolibrary.org/obo/MONDO_0002462 glomerulonephritis (disease) 'glomerulonephritis (disease)' SubClassOf 'disease causes feature' some 'kidney failure' 'glomerulonephritis (disease)' SubClassOf 'nephritis' 'glomerulonephritis (disease)' SubClassOf 'glomerular disease' http://purl.obolibrary.org/obo/UBERON_0006912 urinary bladder muscularis mucosa 'urinary bladder muscularis mucosa' SubClassOf 'muscularis mucosa' 'urinary bladder muscularis mucosa' SubClassOf 'urinary bladder smooth muscle' http://purl.obolibrary.org/obo/UBERON_0006929 glandular columnar epithelium 'glandular columnar epithelium' SubClassOf 'glandular epithelium' 'glandular columnar epithelium' SubClassOf 'simple columnar epithelium' http://purl.obolibrary.org/obo/MONDO_0002475 lacrimal gland adenocarcinoma 'lacrimal gland adenocarcinoma' SubClassOf 'lacrimal gland carcinoma' 'lacrimal gland adenocarcinoma' SubClassOf 'adenocarcinoma' http://purl.obolibrary.org/obo/UBERON_0006924 stomach glandular epithelium 'stomach glandular epithelium' SubClassOf 'glandular columnar epithelium' 'stomach glandular epithelium' SubClassOf 'epithelium of stomach' http://purl.obolibrary.org/obo/MONDO_0002477 prostate neuroendocrine neoplasm 'prostate neuroendocrine neoplasm' SubClassOf 'prostate neoplasm' 'prostate neuroendocrine neoplasm' SubClassOf 'neuroendocrine neoplasm' http://purl.obolibrary.org/obo/UBERON_0006925 digestive system gland 'digestive system gland' SubClassOf 'endocrine gland' http://purl.obolibrary.org/obo/MONDO_0002471 bursitis 'bursitis' SubClassOf 'synovial bursa disease' 'bursitis' SubClassOf 'joint disease' 'bursitis' SubClassOf 'inflammatory disease' http://purl.obolibrary.org/obo/MONDO_0002472 carcinoma ex pleomorphic adenoma 'carcinoma ex pleomorphic adenoma' SubClassOf 'myoepithelial tumor' 'carcinoma ex pleomorphic adenoma' SubClassOf 'carcinoma' 'carcinoma ex pleomorphic adenoma' SubClassOf 'Malignant Mixed Neoplasm' http://purl.obolibrary.org/obo/UBERON_6007424 epithelial furrow 'epithelial furrow' SubClassOf 'epithelium' http://purl.obolibrary.org/obo/UBERON_0006922 cervix squamous epithelium 'cervix squamous epithelium' SubClassOf 'cervix epithelium' 'cervix squamous epithelium' SubClassOf 'non-keratinized stratified squamous epithelium' http://purl.obolibrary.org/obo/UBERON_0006923 vagina squamous epithelium 'vagina squamous epithelium' SubClassOf 'stratified squamous epithelium' 'vagina squamous epithelium' SubClassOf 'epithelium of vagina' http://purl.obolibrary.org/obo/UBERON_0006920 esophagus squamous epithelium 'esophagus squamous epithelium' SubClassOf 'epithelium of esophagus' 'esophagus squamous epithelium' SubClassOf 'squamous epithelium' http://purl.obolibrary.org/obo/UBERON_0006921 stomach squamous epithelium 'stomach squamous epithelium' SubClassOf 'simple squamous epithelium' 'stomach squamous epithelium' SubClassOf 'epithelium of stomach' http://purl.obolibrary.org/obo/UBERON_0006937 inner ear epithelium 'inner ear epithelium' SubClassOf 'ecto-epithelium' 'inner ear epithelium' SubClassOf 'ear epithelium' http://purl.obolibrary.org/obo/MONDO_0002486 lobular neoplasia 'lobular neoplasia' SubClassOf 'breast carcinoma in situ' http://purl.obolibrary.org/obo/UBERON_0006938 pinna surface epithelium 'pinna surface epithelium' SubClassOf 'outer ear epithelium' http://purl.obolibrary.org/obo/UBERON_0006935 crista ampullaris neuroepithelium 'crista ampullaris neuroepithelium' SubClassOf 'vestibular epithelium' http://purl.obolibrary.org/obo/MONDO_0002488 intraductal breast neoplasm 'intraductal breast neoplasm' SubClassOf 'breast neoplasm' http://purl.obolibrary.org/obo/UBERON_0006936 thymus subcapsular epithelium 'thymus subcapsular epithelium' SubClassOf 'thymus epithelium' http://purl.obolibrary.org/obo/MONDO_0002481 ovarian neuroendocrine neoplasm 'ovarian neuroendocrine neoplasm' SubClassOf 'malignant endocrine neoplasm' 'ovarian neuroendocrine neoplasm' SubClassOf 'ovarian cancer' 'ovarian neuroendocrine neoplasm' SubClassOf 'neuroendocrine neoplasm' http://purl.obolibrary.org/obo/MONDO_0002480 endometrioid tumor 'endometrioid tumor' SubClassOf 'epithelial neoplasm' 'endometrioid tumor' SubClassOf 'female reproductive system neoplasm' http://purl.obolibrary.org/obo/UBERON_0006934 sensory epithelium 'germinal neuroepithelium' DisjointWith 'sensory epithelium' 'sensory epithelium' SubClassOf 'atypical epithelium' http://purl.obolibrary.org/obo/UBERON_0006931 stomach glandular region mucosa 'stomach glandular region mucosa' SubClassOf 'mucosa of stomach' http://purl.obolibrary.org/obo/UBERON_0006932 vestibular epithelium 'vestibular epithelium' SubClassOf 'inner ear epithelium' 'vestibular epithelium' SubClassOf 'sensory epithelium' http://purl.obolibrary.org/obo/UBERON_0006930 glandular cuboidal epithelium 'glandular cuboidal epithelium' SubClassOf 'glandular epithelium' 'glandular cuboidal epithelium' SubClassOf 'simple cuboidal epithelium' http://purl.obolibrary.org/obo/UBERON_0006948 efferent duct epithelium 'efferent duct epithelium' SubClassOf 'epithelial layer of duct' http://purl.obolibrary.org/obo/UBERON_0006949 cervical loop 'cervical loop' SubClassOf 'dental epithelium' http://purl.obolibrary.org/obo/MONDO_0002492 acute kidney failure 'acute kidney failure' SubClassOf 'kidney failure' 'acute kidney failure' SubClassOf 'acute disease' http://purl.obolibrary.org/obo/MONDO_0002493 prostatic acinar adenocarcinoma 'prostatic acinar adenocarcinoma' SubClassOf 'acinar cell carcinoma' 'prostatic acinar adenocarcinoma' SubClassOf 'prostate adenocarcinoma' 'prostatic acinar adenocarcinoma' EquivalentTo 'acinar cell carcinoma' and 'prostate adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0002494 substance-related disorder 'substance-related disorder' SubClassOf 'psychiatric disorder' http://purl.obolibrary.org/obo/MONDO_0002490 breast sarcoma 'breast sarcoma' SubClassOf 'soft tissue sarcoma' 'breast sarcoma' SubClassOf 'breast cancer' http://purl.obolibrary.org/obo/MONDO_0002491 substance abuse 'substance abuse' SubClassOf 'substance-related disorder' http://purl.obolibrary.org/obo/UBERON_2000000 Brachet's cleft 'Brachet's cleft' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_2000001 Kupffer's vesicle 'Kupffer's vesicle' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0006907 slow muscle tissue 'slow muscle tissue' SubClassOf 'skeletal muscle tissue' http://purl.obolibrary.org/obo/UBERON_0006905 mandibular process mesenchyme 'mandibular process mesenchyme' SubClassOf 'head mesenchyme' http://purl.obolibrary.org/obo/UBERON_0004330 proximal phalanx of manual digit 4 'proximal phalanx of manual digit 4' SubClassOf 'proximal phalanx of manus' 'proximal phalanx of manual digit 4' SubClassOf 'proximal phalanx of digit 4' 'proximal phalanx of manual digit 4' SubClassOf 'manual digit 4 phalanx' http://purl.obolibrary.org/obo/UBERON_0004336 proximal phalanx of pedal digit 5 'proximal phalanx of pedal digit 5' SubClassOf 'pedal digit 5 phalanx' 'proximal phalanx of pedal digit 5' SubClassOf 'proximal phalanx of digit 5' 'proximal phalanx of pedal digit 5' SubClassOf 'proximal phalanx of pes' http://purl.obolibrary.org/obo/UBERON_0004335 proximal phalanx of pedal digit 4 'proximal phalanx of pedal digit 4' SubClassOf 'pedal digit 4 phalanx' 'proximal phalanx of pedal digit 4' SubClassOf 'proximal phalanx of pes' 'proximal phalanx of pedal digit 4' SubClassOf 'proximal phalanx of digit 4' http://purl.obolibrary.org/obo/UBERON_0004338 proximal phalanx of manual digit 1 'proximal phalanx of manual digit 1' SubClassOf 'proximal phalanx of manus' 'proximal phalanx of manual digit 1' SubClassOf 'proximal phalanx of digit 1' 'proximal phalanx of manual digit 1' SubClassOf 'manual digit 1 phalanx' http://purl.obolibrary.org/obo/UBERON_0004337 distal phalanx of manual digit 1 'distal phalanx of manual digit 1' SubClassOf 'manual digit 1 phalanx' 'distal phalanx of manual digit 1' SubClassOf 'distal phalanx of manus' 'distal phalanx of manual digit 1' SubClassOf 'distal phalanx of digit 1' http://purl.obolibrary.org/obo/UBERON_0004332 proximal phalanx of pedal digit 1 'proximal phalanx of pedal digit 1' SubClassOf 'proximal phalanx of digit 1' 'proximal phalanx of pedal digit 1' SubClassOf 'proximal phalanx of pes' 'proximal phalanx of pedal digit 1' SubClassOf 'pedal digit 1 phalanx' http://purl.obolibrary.org/obo/UBERON_0004331 proximal phalanx of manual digit 5 'proximal phalanx of manual digit 5' SubClassOf 'proximal phalanx of manus' 'proximal phalanx of manual digit 5' SubClassOf 'proximal phalanx of digit 5' 'proximal phalanx of manual digit 5' SubClassOf 'manual digit 5 phalanx' http://purl.obolibrary.org/obo/UBERON_0004334 proximal phalanx of pedal digit 3 'proximal phalanx of pedal digit 3' SubClassOf 'pedal digit 3 phalanx' 'proximal phalanx of pedal digit 3' SubClassOf 'proximal phalanx of digit 3' 'proximal phalanx of pedal digit 3' SubClassOf 'proximal phalanx of pes' http://purl.obolibrary.org/obo/UBERON_0004333 proximal phalanx of pedal digit 2 'proximal phalanx of pedal digit 2' SubClassOf 'proximal phalanx of pes' 'proximal phalanx of pedal digit 2' SubClassOf 'proximal phalanx of digit 2' 'proximal phalanx of pedal digit 2' SubClassOf 'pedal digit 2 phalanx' http://purl.obolibrary.org/obo/UBERON_0004341 primitive streak 'primitive streak' SubClassOf 'simple columnar epithelium' http://purl.obolibrary.org/obo/UBERON_2000039 median axial vein 'median axial vein' SubClassOf 'vein' http://purl.obolibrary.org/obo/UBERON_0004347 limb bud 'limb bud' SubClassOf 'paired limb/fin bud' http://purl.obolibrary.org/obo/UBERON_0004346 gubernaculum (male or female) 'gubernaculum (male or female)' SubClassOf 'nonskeletal ligament' http://purl.obolibrary.org/obo/UBERON_0004348 optic eminence 'optic eminence' SubClassOf 'presumptive structure' http://purl.obolibrary.org/obo/UBERON_0004345 trophectoderm 'trophectoderm' SubClassOf 'extraembryonic tissue' 'trophectoderm' SubClassOf 'unilaminar epithelium' http://purl.obolibrary.org/obo/UBERON_0004344 cardinal vein 'cardinal vein' SubClassOf 'vein' http://purl.obolibrary.org/obo/UBERON_3011120 early proximal tubule 'early proximal tubule' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0004357 paired limb/fin bud 'paired limb/fin bud' SubClassOf 'presumptive structure' http://purl.obolibrary.org/obo/UBERON_0004356 apical ectodermal ridge 'apical ectodermal ridge' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0004361 stylohyoid ligament 'stylohyoid ligament' SubClassOf 'skeletal ligament' http://purl.obolibrary.org/obo/UBERON_0004362 pharyngeal arch 1 'pharyngeal arch 1' SubClassOf 'pharyngeal arch' http://purl.obolibrary.org/obo/UBERON_0004365 vitelline blood vessel 'vitelline blood vessel' SubClassOf 'blood vessel' http://purl.obolibrary.org/obo/UBERON_0004364 ectoplacental cone 'ectoplacental cone' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0006957 submandibular gland primordium epithelium 'submandibular gland primordium epithelium' SubClassOf 'epithelium of lower jaw' http://purl.obolibrary.org/obo/UBERON_0006958 great vein of heart 'great vein of heart' SubClassOf 'cardiac vein' http://purl.obolibrary.org/obo/UBERON_2000084 yolk 'yolk' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_2000088 yolk syncytial layer 'yolk syncytial layer' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0006955 uterine epithelium 'uterine epithelium' SubClassOf 'oviduct epithelium' http://purl.obolibrary.org/obo/UBERON_0006956 buccal mucosa 'buccal mucosa' SubClassOf 'mouth mucosa' http://purl.obolibrary.org/obo/UBERON_0006953 ejaculatory duct epithelium 'ejaculatory duct epithelium' SubClassOf 'epithelial layer of duct' http://purl.obolibrary.org/obo/UBERON_0006954 mammary gland myoepithelium 'mammary gland myoepithelium' SubClassOf 'myoepithelium' 'mammary gland myoepithelium' SubClassOf 'epithelium of mammary gland' http://purl.obolibrary.org/obo/UBERON_0006951 inner dental epithelium 'inner dental epithelium' SubClassOf 'dental epithelium' http://purl.obolibrary.org/obo/UBERON_0006952 outer dental epithelium 'outer dental epithelium' SubClassOf 'dental epithelium' http://purl.obolibrary.org/obo/UBERON_0006950 stellate reticulum 'stellate reticulum' SubClassOf 'dental epithelium' http://purl.obolibrary.org/obo/UBERON_2000074 somite 26 'somite 26' SubClassOf 'somite' http://purl.obolibrary.org/obo/UBERON_0006966 coronary capillary 'coronary capillary' SubClassOf 'capillary' 'coronary capillary' SubClassOf 'heart blood vessel' http://purl.obolibrary.org/obo/UBERON_0004302 proximal phalanx 'proximal phalanx' SubClassOf 'phalanx' http://purl.obolibrary.org/obo/UBERON_0006964 pars distalis of adenohypophysis 'pars distalis of adenohypophysis' SubClassOf 'ecto-epithelium' http://purl.obolibrary.org/obo/UBERON_0004301 middle phalanx 'middle phalanx' SubClassOf 'phalanx' http://purl.obolibrary.org/obo/UBERON_0004300 distal phalanx 'distal phalanx' SubClassOf 'phalanx' http://purl.obolibrary.org/obo/UBERON_0004318 distal phalanx of pedal digit 4 'distal phalanx of pedal digit 4' SubClassOf 'distal phalanx of pes' 'distal phalanx of pedal digit 4' SubClassOf 'distal phalanx of digit 4' 'distal phalanx of pedal digit 4' SubClassOf 'pedal digit 4 phalanx' http://purl.obolibrary.org/obo/UBERON_0004317 distal phalanx of pedal digit 3 'distal phalanx of pedal digit 3' SubClassOf 'distal phalanx of pes' 'distal phalanx of pedal digit 3' SubClassOf 'distal phalanx of digit 3' 'distal phalanx of pedal digit 3' SubClassOf 'pedal digit 3 phalanx' http://purl.obolibrary.org/obo/UBERON_0004319 distal phalanx of pedal digit 5 'distal phalanx of pedal digit 5' SubClassOf 'distal phalanx of digit 5' 'distal phalanx of pedal digit 5' SubClassOf 'distal phalanx of pes' 'distal phalanx of pedal digit 5' SubClassOf 'pedal digit 5 phalanx' http://purl.obolibrary.org/obo/UBERON_2000068 neural plate proneural cluster 'neural plate proneural cluster' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0004314 distal phalanx of manual digit 5 'distal phalanx of manual digit 5' SubClassOf 'distal phalanx of digit 5' 'distal phalanx of manual digit 5' SubClassOf 'manual digit 5 phalanx' 'distal phalanx of manual digit 5' SubClassOf 'distal phalanx of manus' http://purl.obolibrary.org/obo/UBERON_0004313 distal phalanx of manual digit 4 'distal phalanx of manual digit 4' SubClassOf 'distal phalanx of digit 4' 'distal phalanx of manual digit 4' SubClassOf 'manual digit 4 phalanx' 'distal phalanx of manual digit 4' SubClassOf 'distal phalanx of manus' http://purl.obolibrary.org/obo/UBERON_0004316 distal phalanx of pedal digit 2 'distal phalanx of pedal digit 2' SubClassOf 'distal phalanx of pes' 'distal phalanx of pedal digit 2' SubClassOf 'pedal digit 2 phalanx' 'distal phalanx of pedal digit 2' SubClassOf 'distal phalanx of digit 2' http://purl.obolibrary.org/obo/UBERON_0004315 distal phalanx of pedal digit 1 'distal phalanx of pedal digit 1' SubClassOf 'pedal digit 1 phalanx' 'distal phalanx of pedal digit 1' SubClassOf 'distal phalanx of pes' 'distal phalanx of pedal digit 1' SubClassOf 'distal phalanx of digit 1' http://purl.obolibrary.org/obo/UBERON_0004312 distal phalanx of manual digit 3 'distal phalanx of manual digit 3' SubClassOf 'distal phalanx of manus' 'distal phalanx of manual digit 3' SubClassOf 'distal phalanx of digit 3' 'distal phalanx of manual digit 3' SubClassOf 'manual digit 3 phalanx' http://purl.obolibrary.org/obo/UBERON_0004311 distal phalanx of manual digit 2 'distal phalanx of manual digit 2' SubClassOf 'distal phalanx of manus' 'distal phalanx of manual digit 2' SubClassOf 'manual digit 2 phalanx' 'distal phalanx of manual digit 2' SubClassOf 'distal phalanx of digit 2' http://purl.obolibrary.org/obo/UBERON_0004329 proximal phalanx of manual digit 3 'proximal phalanx of manual digit 3' SubClassOf 'proximal phalanx of manus' 'proximal phalanx of manual digit 3' SubClassOf 'proximal phalanx of digit 3' 'proximal phalanx of manual digit 3' SubClassOf 'manual digit 3 phalanx' http://purl.obolibrary.org/obo/UBERON_0004328 proximal phalanx of manual digit 2 'proximal phalanx of manual digit 2' SubClassOf 'proximal phalanx of digit 2' 'proximal phalanx of manual digit 2' SubClassOf 'manual digit 2 phalanx' 'proximal phalanx of manual digit 2' SubClassOf 'proximal phalanx of manus' http://purl.obolibrary.org/obo/UBERON_0004325 middle phalanx of pedal digit 3 'middle phalanx of pedal digit 3' SubClassOf 'middle phalanx of pes' 'middle phalanx of pedal digit 3' SubClassOf 'pedal digit 3 phalanx' 'middle phalanx of pedal digit 3' SubClassOf 'middle phalanx of digit 3' http://purl.obolibrary.org/obo/UBERON_0004324 middle phalanx of pedal digit 2 'middle phalanx of pedal digit 2' SubClassOf 'pedal digit 2 phalanx' 'middle phalanx of pedal digit 2' SubClassOf 'middle phalanx of pes' 'middle phalanx of pedal digit 2' SubClassOf 'middle phalanx of digit 2' http://purl.obolibrary.org/obo/UBERON_0004327 middle phalanx of pedal digit 5 'middle phalanx of pedal digit 5' SubClassOf 'pedal digit 5 phalanx' 'middle phalanx of pedal digit 5' SubClassOf 'middle phalanx of pes' 'middle phalanx of pedal digit 5' SubClassOf 'middle phalanx of digit 5' http://purl.obolibrary.org/obo/UBERON_0004326 middle phalanx of pedal digit 4 'middle phalanx of pedal digit 4' SubClassOf 'pedal digit 4 phalanx' 'middle phalanx of pedal digit 4' SubClassOf 'middle phalanx of digit 4' 'middle phalanx of pedal digit 4' SubClassOf 'middle phalanx of pes' http://purl.obolibrary.org/obo/UBERON_0004321 middle phalanx of manual digit 3 'middle phalanx of manual digit 3' SubClassOf 'middle phalanx of digit 3' 'middle phalanx of manual digit 3' SubClassOf 'manual digit 3 phalanx' 'middle phalanx of manual digit 3' SubClassOf 'middle phalanx of manus' http://purl.obolibrary.org/obo/UBERON_0004320 middle phalanx of manual digit 2 'middle phalanx of manual digit 2' SubClassOf 'middle phalanx of manus' 'middle phalanx of manual digit 2' SubClassOf 'manual digit 2 phalanx' 'middle phalanx of manual digit 2' SubClassOf 'middle phalanx of digit 2' http://purl.obolibrary.org/obo/UBERON_0004323 middle phalanx of manual digit 5 'middle phalanx of manual digit 5' SubClassOf 'manual digit 5 phalanx' 'middle phalanx of manual digit 5' SubClassOf 'middle phalanx of manus' 'middle phalanx of manual digit 5' SubClassOf 'middle phalanx of digit 5' http://purl.obolibrary.org/obo/UBERON_0004322 middle phalanx of manual digit 4 'middle phalanx of manual digit 4' SubClassOf 'middle phalanx of manus' 'middle phalanx of manual digit 4' SubClassOf 'manual digit 4 phalanx' 'middle phalanx of manual digit 4' SubClassOf 'middle phalanx of digit 4' http://purl.obolibrary.org/obo/UBERON_0016394 anterior auricular lymph node 'anterior auricular lymph node' SubClassOf 'deep parotid lymph node' http://purl.obolibrary.org/obo/UBERON_0016395 infra-auricular lymph node 'infra-auricular lymph node' SubClassOf 'deep parotid lymph node' http://purl.obolibrary.org/obo/UBERON_0016396 intraglandular lymph node 'intraglandular lymph node' SubClassOf 'deep parotid lymph node' http://purl.obolibrary.org/obo/UBERON_0016397 submental lymph node 'submental lymph node' SubClassOf 'lymph node of head' http://purl.obolibrary.org/obo/UBERON_0016390 auricular lymph node 'auricular lymph node' SubClassOf 'lymph node' http://purl.obolibrary.org/obo/UBERON_0016391 thymic lymph node 'thymic lymph node' SubClassOf 'lymph node' http://purl.obolibrary.org/obo/UBERON_0016392 mastoid lymph node 'mastoid lymph node' SubClassOf 'lymph node of head' http://purl.obolibrary.org/obo/UBERON_0016393 deep parotid lymph node 'deep parotid lymph node' SubClassOf 'deep lymph node' 'deep parotid lymph node' SubClassOf 'parotid lymph node' http://purl.obolibrary.org/obo/UBERON_0016398 lymph node of lower limb 'lymph node of lower limb' SubClassOf 'lymph node' http://purl.obolibrary.org/obo/UBERON_0016399 lymph node of upper limb 'lymph node of upper limb' SubClassOf 'lymph node' http://purl.obolibrary.org/obo/UBERON_0004374 vitelline vasculature 'vitelline vasculature' SubClassOf 'vasculature' http://purl.obolibrary.org/obo/UBERON_0004376 fin bone 'fin bone' SubClassOf 'bone' http://purl.obolibrary.org/obo/UBERON_0004375 bone of free limb or fin 'bone of free limb or fin' SubClassOf 'bone of appendage girdle complex' http://purl.obolibrary.org/obo/UBERON_0016386 paraaortic lymph node 'paraaortic lymph node' SubClassOf 'lymph node' http://purl.obolibrary.org/obo/UBERON_0016382 prescapular lymph node 'prescapular lymph node' SubClassOf 'cervical lymph node' http://purl.obolibrary.org/obo/UBERON_0016374 sciatic lymph node 'sciatic lymph node' SubClassOf 'lymph node of lower limb' http://purl.obolibrary.org/obo/UBERON_0016378 ileocolic lymph node 'ileocolic lymph node' SubClassOf 'lymph node' http://purl.obolibrary.org/obo/MONDO_0002508 gingivitis 'gingivitis' SubClassOf 'gingival disease' 'gingivitis' SubClassOf 'stomatitis' http://purl.obolibrary.org/obo/MONDO_0002507 gingival overgrowth 'gingival overgrowth' SubClassOf 'gingival disease' http://purl.obolibrary.org/obo/MONDO_0002512 papillary adenocarcinoma 'papillary adenocarcinoma' EquivalentTo 'adenocarcinoma' and 'papillary carcinoma' 'papillary adenocarcinoma' SubClassOf 'adenocarcinoma' 'papillary adenocarcinoma' SubClassOf 'papillary carcinoma' http://purl.obolibrary.org/obo/MONDO_0002513 kidney benign neoplasm 'kidney benign neoplasm' SubClassOf 'kidney neoplasm' 'kidney benign neoplasm' SubClassOf 'benign urinary system neoplasm' http://purl.obolibrary.org/obo/MONDO_0002510 germ cell and embryonal cancer 'germ cell and embryonal cancer' SubClassOf 'germ cell tumor' http://purl.obolibrary.org/obo/MONDO_0002515 hepatobiliary disease 'hepatobiliary disease' SubClassOf 'digestive system disease' http://purl.obolibrary.org/obo/MONDO_0002516 digestive system cancer 'digestive system cancer' SubClassOf 'cancer' 'digestive system cancer' SubClassOf 'digestive system neoplasm' http://purl.obolibrary.org/obo/MONDO_0002523 cutaneous mucinosis 'cutaneous mucinosis' SubClassOf 'skin disease' http://purl.obolibrary.org/obo/MONDO_0002527 keratoacanthoma 'keratoacanthoma' SubClassOf 'disease shares features of' some 'squamous cell carcinoma' 'keratoacanthoma' SubClassOf 'epithelial skin neoplasm' http://purl.obolibrary.org/obo/MONDO_0002528 synovium neoplasm 'synovium neoplasm' SubClassOf 'Soft Tissue Neoplasm' 'synovium neoplasm' SubClassOf 'joint disease' 'synovium neoplasm' SubClassOf 'synovium disease' http://purl.obolibrary.org/obo/MONDO_0002533 papillary adenoma 'papillary adenoma' SubClassOf 'papillary epithelial neoplasm' 'papillary adenoma' SubClassOf 'adenoma' 'papillary adenoma' EquivalentTo 'papillary epithelial neoplasm' and 'adenoma' http://purl.obolibrary.org/obo/MONDO_0002532 squamous cell neoplasm 'squamous cell neoplasm' SubClassOf 'epithelial neoplasm' http://purl.obolibrary.org/obo/MONDO_0002547 nerve sheath neoplasm 'nerve sheath neoplasm' SubClassOf 'peripheral nervous system neoplasm' http://purl.obolibrary.org/obo/MONDO_0002542 spinal cord glioma 'spinal cord glioma' SubClassOf 'spinal cord cancer' 'spinal cord glioma' SubClassOf 'malignant glioma' http://purl.obolibrary.org/obo/MONDO_0002567 tracheal disease 'tracheal disease' SubClassOf 'lower respiratory tract disease' 'tracheal disease' SubClassOf 'upper respiratory tract disease' http://purl.obolibrary.org/obo/MONDO_0002562 demyelinating disease 'demyelinating disease' SubClassOf 'neurodegenerative disease' 'demyelinating disease' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0002564 jejunal neoplasm 'jejunal neoplasm' SubClassOf 'small intestine neoplasm' http://purl.obolibrary.org/obo/UBERON_0001109 sternothyroid muscle 'sternothyroid muscle' SubClassOf 'infrahyoid muscle' http://purl.obolibrary.org/obo/UBERON_0001105 clavicle bone 'clavicle bone' SubClassOf 'pectoral girdle bone' 'clavicle bone' SubClassOf 'long bone' http://purl.obolibrary.org/obo/UBERON_0001106 cephalic vein 'cephalic vein' SubClassOf 'arm blood vessel' 'cephalic vein' SubClassOf 'superficial vein' http://purl.obolibrary.org/obo/UBERON_0001107 sternohyoid muscle 'sternohyoid muscle' SubClassOf 'infrahyoid muscle' http://purl.obolibrary.org/obo/UBERON_0001108 omohyoid muscle 'omohyoid muscle' SubClassOf 'infrahyoid muscle' http://purl.obolibrary.org/obo/UBERON_0015751 inferior tarsal muscle 'inferior tarsal muscle' SubClassOf 'smooth muscle of eye' http://purl.obolibrary.org/obo/UBERON_0001101 external jugular vein 'external jugular vein' SubClassOf 'jugular vein' http://purl.obolibrary.org/obo/UBERON_0001104 anterior jugular vein 'anterior jugular vein' DisjointWith 'posterior external jugular vein' 'anterior jugular vein' SubClassOf 'jugular vein' http://purl.obolibrary.org/obo/UBERON_0001100 pectoralis minor 'pectoralis minor' SubClassOf 'pectoral muscle' http://purl.obolibrary.org/obo/UBERON_0001112 latissimus dorsi muscle 'latissimus dorsi muscle' SubClassOf 'scapular muscle' 'latissimus dorsi muscle' SubClassOf 'muscle of shoulder' http://purl.obolibrary.org/obo/UBERON_0001110 thyrohyoid muscle 'thyrohyoid muscle' SubClassOf 'infrahyoid muscle' http://purl.obolibrary.org/obo/UBERON_0001127 serratus dorsalis inferior muscle 'serratus dorsalis inferior muscle' SubClassOf 'serratus dorsalis muscle' http://purl.obolibrary.org/obo/UBERON_0001128 sternocleidomastoid 'sternocleidomastoid' SubClassOf 'axial muscle' 'sternocleidomastoid' SubClassOf 'cleidocephalicus muscle' 'sternocleidomastoid' SubClassOf 'muscle of neck' http://purl.obolibrary.org/obo/UBERON_0001129 subscapularis muscle 'subscapularis muscle' SubClassOf 'muscle of shoulder' 'subscapularis muscle' SubClassOf 'pectoral complex muscle' http://purl.obolibrary.org/obo/UBERON_0013112 viper venom 'viper venom' SubClassOf 'snake venom' http://purl.obolibrary.org/obo/UBERON_0013110 hydrophid venom 'hydrophid venom' SubClassOf 'snake venom' http://purl.obolibrary.org/obo/UBERON_0015777 transitional epithelium of prostatic urethra 'transitional epithelium of prostatic urethra' SubClassOf 'epithelium of male urethra' 'transitional epithelium of prostatic urethra' SubClassOf 'urethra urothelium' http://purl.obolibrary.org/obo/UBERON_0013116 venom gland musculature 'venom gland musculature' SubClassOf 'craniocervical region musculature' http://purl.obolibrary.org/obo/UBERON_0013113 angular/surangular bone 'angular/surangular bone' SubClassOf 'dermal bone' http://purl.obolibrary.org/obo/UBERON_0001123 scalenus posterior 'scalenus posterior' DisjointWith 'scalenus anterior' 'scalenus posterior' SubClassOf 'muscle of neck' http://purl.obolibrary.org/obo/UBERON_0001125 serratus ventralis 'serratus ventralis' SubClassOf 'muscle of shoulder' 'serratus ventralis' SubClassOf 'scapular muscle' http://purl.obolibrary.org/obo/UBERON_0001126 serratus dorsalis superior muscle 'serratus dorsalis superior muscle' SubClassOf 'serratus dorsalis muscle' 'serratus dorsalis superior muscle' SubClassOf 'thoracic segment muscle' http://purl.obolibrary.org/obo/UBERON_0001122 scalenus medius 'scalenus medius' SubClassOf 'muscle of neck' 'scalenus medius' SubClassOf 'muscle of vertebral column' 'scalenus medius' SubClassOf 'axial muscle' http://purl.obolibrary.org/obo/UBERON_0001138 superior mesenteric vein 'superior mesenteric vein' SubClassOf 'mesenteric vein' http://purl.obolibrary.org/obo/UBERON_0001139 common iliac vein 'common iliac vein' SubClassOf 'iliac vein' http://purl.obolibrary.org/obo/UBERON_0015766 epithelium of duct of salivary gland 'epithelium of duct of salivary gland' SubClassOf 'epithelial layer of duct' 'epithelium of duct of salivary gland' SubClassOf 'salivary gland epithelium' 'epithelium of duct of salivary gland' SubClassOf 'ecto-epithelium' http://purl.obolibrary.org/obo/UBERON_0015760 mixed stratified cuboidal and columnar epithelium 'mixed stratified cuboidal and columnar epithelium' SubClassOf 'multilaminar epithelium' http://purl.obolibrary.org/obo/UBERON_0013106 elapid venom 'elapid venom' SubClassOf 'snake venom' http://purl.obolibrary.org/obo/UBERON_0001136 mesothelium 'mesothelium' SubClassOf 'simple squamous epithelium' 'mesothelium' SubClassOf 'meso-epithelium' http://purl.obolibrary.org/obo/UBERON_0001132 parathyroid gland 'parathyroid gland' SubClassOf 'endocrine gland' http://purl.obolibrary.org/obo/UBERON_0003727 intercostal nerve 'intercostal nerve' SubClassOf 'spinal nerve' http://purl.obolibrary.org/obo/UBERON_0003724 musculocutaneous nerve 'musculocutaneous nerve' SubClassOf 'nerve' http://purl.obolibrary.org/obo/UBERON_0003723 vestibular nerve 'vestibular nerve' SubClassOf 'nerve of head region' http://purl.obolibrary.org/obo/UBERON_0003726 thoracic nerve 'thoracic nerve' SubClassOf 'spinal nerve' http://purl.obolibrary.org/obo/UBERON_0015717 smooth muscle tissue layer of ejaculatory duct 'smooth muscle tissue layer of ejaculatory duct' SubClassOf 'smooth muscle tissue' http://purl.obolibrary.org/obo/UBERON_0015716 anal canal epithelium 'anal canal epithelium' SubClassOf 'anal membrane ectodermal component' 'anal canal epithelium' SubClassOf 'epithelium of large intestine' http://purl.obolibrary.org/obo/UBERON_0003721 lingual nerve 'lingual nerve' SubClassOf 'nerve of head region' http://purl.obolibrary.org/obo/UBERON_0015704 sagittal sinus 'sagittal sinus' SubClassOf 'unpaired venous dural sinus' http://purl.obolibrary.org/obo/UBERON_0013170 cricoarytenoid ligament 'cricoarytenoid ligament' SubClassOf 'extrinsic ligament of larynx' http://purl.obolibrary.org/obo/UBERON_0013172 cricotracheal ligament 'cricotracheal ligament' SubClassOf 'extrinsic ligament of larynx' http://purl.obolibrary.org/obo/UBERON_0013171 cricothyroid ligament 'cricothyroid ligament' SubClassOf 'ligament of larynx' http://purl.obolibrary.org/obo/UBERON_0013178 anterior dorsal bursa 'anterior dorsal bursa' SubClassOf 'dorsal bursa' 'anterior dorsal bursa' DisjointWith 'posterior dorsal bursa' http://purl.obolibrary.org/obo/UBERON_0013177 dorsal bursa 'dorsal bursa' SubClassOf 'adipose tissue' http://purl.obolibrary.org/obo/UBERON_0013179 posterior dorsal bursa 'posterior dorsal bursa' SubClassOf 'dorsal bursa' 'anterior dorsal bursa' DisjointWith 'posterior dorsal bursa' http://purl.obolibrary.org/obo/UBERON_0001182 superior mesenteric artery 'superior mesenteric artery' SubClassOf 'mesenteric artery' http://purl.obolibrary.org/obo/UBERON_0001183 inferior mesenteric artery 'inferior mesenteric artery' SubClassOf 'mesenteric artery' 'inferior mesenteric artery' SubClassOf 'rectal artery' http://purl.obolibrary.org/obo/UBERON_0001189 left testicular artery 'left testicular artery' SubClassOf 'ureteric segment of renal artery' 'left testicular artery' SubClassOf 'testicular artery' http://purl.obolibrary.org/obo/UBERON_0001185 right renal artery 'right renal artery' SubClassOf 'renal artery' http://purl.obolibrary.org/obo/UBERON_0001186 left renal artery 'left renal artery' SubClassOf 'renal artery' http://purl.obolibrary.org/obo/UBERON_0001187 testicular artery 'testicular artery' SubClassOf 'genital artery' http://purl.obolibrary.org/obo/UBERON_0001188 right testicular artery 'right testicular artery' SubClassOf 'testicular artery' 'right testicular artery' SubClassOf 'ureteric segment of renal artery' http://purl.obolibrary.org/obo/UBERON_0013162 right lateral ventricle 'right lateral ventricle' SubClassOf 'telencephalic ventricle' http://purl.obolibrary.org/obo/UBERON_0013161 left lateral ventricle 'left lateral ventricle' SubClassOf 'telencephalic ventricle' http://purl.obolibrary.org/obo/UBERON_0013160 epithalamus ventricular layer 'epithalamus ventricular layer' SubClassOf 'neural tube ventricular layer' http://purl.obolibrary.org/obo/UBERON_0013167 cricopharyngeal ligament 'cricopharyngeal ligament' SubClassOf 'extrinsic ligament of larynx' http://purl.obolibrary.org/obo/UBERON_0013164 molariform tooth 'molariform tooth' SubClassOf 'tooth' http://purl.obolibrary.org/obo/UBERON_0013169 vestibular ligament 'vestibular ligament' SubClassOf 'laryngeal intrinsic ligament' http://purl.obolibrary.org/obo/UBERON_0013168 thyroepiglottic ligament 'thyroepiglottic ligament' SubClassOf 'laryngeal intrinsic ligament' http://purl.obolibrary.org/obo/UBERON_0001192 left gastric artery 'left gastric artery' SubClassOf 'systemic artery' http://purl.obolibrary.org/obo/UBERON_0001193 hepatic artery 'hepatic artery' SubClassOf 'artery' http://purl.obolibrary.org/obo/UBERON_0001194 splenic artery 'splenic artery' DisjointWith 'celiac artery' 'splenic artery' SubClassOf 'systemic artery' http://purl.obolibrary.org/obo/UBERON_0001195 inferior pancreaticoduodenal artery 'inferior pancreaticoduodenal artery' SubClassOf 'pancreaticoduodenal artery' 'inferior pancreaticoduodenal artery' SubClassOf 'systemic artery' http://purl.obolibrary.org/obo/UBERON_0001190 ovarian artery 'ovarian artery' SubClassOf 'artery' http://purl.obolibrary.org/obo/UBERON_0001191 common iliac artery 'common iliac artery' SubClassOf 'abdominal aorta artery' 'common iliac artery' SubClassOf 'iliac artery' http://purl.obolibrary.org/obo/UBERON_0001196 middle colic artery 'middle colic artery' SubClassOf 'systemic artery' http://purl.obolibrary.org/obo/UBERON_0001197 ileocolic artery 'ileocolic artery' SubClassOf 'systemic artery' http://purl.obolibrary.org/obo/UBERON_0001198 superior suprarenal artery 'superior suprarenal artery' SubClassOf 'systemic artery' 'superior suprarenal artery' SubClassOf 'suprarenal artery' http://purl.obolibrary.org/obo/UBERON_0001199 mucosa of stomach 'mucosa of stomach' SubClassOf 'gastrointestinal system mucosa' http://purl.obolibrary.org/obo/UBERON_0013190 entotympanic bone 'entotympanic bone' SubClassOf 'endochondral bone' 'entotympanic bone' SubClassOf 'head bone' http://purl.obolibrary.org/obo/UBERON_0013196 strand of wool 'strand of wool' SubClassOf 'strand of pelage hair' http://purl.obolibrary.org/obo/UBERON_0013195 parakeratinized epithelium of gingiva 'parakeratinized epithelium of gingiva' SubClassOf 'gingival epithelium' 'parakeratinized epithelium of gingiva' SubClassOf 'parakeratinized epithelium' http://purl.obolibrary.org/obo/UBERON_0013194 orthokeratinized epithelium 'orthokeratinized epithelium' SubClassOf 'atypical epithelium' http://purl.obolibrary.org/obo/UBERON_0013193 parakeratinized epithelium 'parakeratinized epithelium' SubClassOf 'atypical epithelium' http://purl.obolibrary.org/obo/UBERON_0013181 blowhole ligament 'blowhole ligament' SubClassOf 'nonskeletal ligament' http://purl.obolibrary.org/obo/MONDO_0010837 primary hyperparathyroidism (disease) 'primary hyperparathyroidism (disease)' SubClassOf 'hyperparathyroidism' http://purl.obolibrary.org/obo/MONDO_0022800 collagenopathy type 2 alpha 1 'collagenopathy type 2 alpha 1' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/UBERON_0015790 autopod skin 'autopod skin' SubClassOf 'skin of limb' http://purl.obolibrary.org/obo/UBERON_0013133 superior phrenic artery 'superior phrenic artery' SubClassOf 'phrenic artery' 'superior phrenic artery' SubClassOf 'thoracic segment blood vessel' http://purl.obolibrary.org/obo/UBERON_0013132 penicillar arteriole 'penicillar arteriole' SubClassOf 'spleen trabecular artery' 'penicillar arteriole' SubClassOf 'splenic arteriole' http://purl.obolibrary.org/obo/UBERON_0013138 coronary ligament of liver 'coronary ligament of liver' SubClassOf 'ligament of liver' http://purl.obolibrary.org/obo/UBERON_0013137 external pudendal artery 'external pudendal artery' SubClassOf 'pudendal artery' http://purl.obolibrary.org/obo/UBERON_0015794 left lung lobar bronchus epithelium 'left lung lobar bronchus epithelium' SubClassOf 'epithelium of left lung' 'left lung lobar bronchus epithelium' SubClassOf 'epithelium of lobar bronchus' http://purl.obolibrary.org/obo/UBERON_0013136 vein of lip 'vein of lip' SubClassOf 'craniocervical region vein' 'vein of lip' SubClassOf 'neck blood vessel' 'vein of lip' SubClassOf 'head blood vessel' http://purl.obolibrary.org/obo/UBERON_0015795 right lung lobar bronchus epitheium 'right lung lobar bronchus epitheium' SubClassOf 'epithelium of right lung' 'right lung lobar bronchus epitheium' SubClassOf 'epithelium of lobar bronchus' http://purl.obolibrary.org/obo/UBERON_0015796 liver blood vessel 'liver blood vessel' SubClassOf 'abdomen blood vessel' http://purl.obolibrary.org/obo/UBERON_0001140 renal vein 'renal vein' SubClassOf 'vein' http://purl.obolibrary.org/obo/UBERON_0013139 ligament of liver 'ligament of liver' SubClassOf 'nonskeletal ligament' http://purl.obolibrary.org/obo/UBERON_0001145 ovarian vein 'ovarian vein' SubClassOf 'vein' http://purl.obolibrary.org/obo/UBERON_0001146 suprarenal vein 'suprarenal vein' SubClassOf 'vein' http://purl.obolibrary.org/obo/UBERON_0001148 median nerve 'median nerve' SubClassOf 'arm nerve' http://purl.obolibrary.org/obo/UBERON_0001141 right renal vein 'right renal vein' SubClassOf 'renal vein' http://purl.obolibrary.org/obo/UBERON_0001142 left renal vein 'left renal vein' SubClassOf 'renal vein' http://purl.obolibrary.org/obo/UBERON_0001143 hepatic vein 'hepatic vein' DisjointWith 'hepatic portal vein' 'hepatic vein' SubClassOf 'liver blood vessel' 'hepatic vein' SubClassOf 'vein of abdomen' http://purl.obolibrary.org/obo/UBERON_0001144 testicular vein 'testicular vein' SubClassOf 'vein' http://purl.obolibrary.org/obo/UBERON_0015786 respiratory segment of nasal mucosa 'respiratory segment of nasal mucosa' SubClassOf 'nasal cavity mucosa' 'olfactory segment of nasal mucosa' DisjointWith 'respiratory segment of nasal mucosa' http://purl.obolibrary.org/obo/UBERON_0015789 cranial or facial muscle 'cranial or facial muscle' SubClassOf 'cranial muscle' http://purl.obolibrary.org/obo/UBERON_0013127 pulmonary venous system 'pulmonary venous system' SubClassOf 'vasculature' http://purl.obolibrary.org/obo/UBERON_0013126 vein of abdomen 'vein of abdomen' SubClassOf 'abdomen blood vessel' 'vein of abdomen' SubClassOf 'vein' http://purl.obolibrary.org/obo/UBERON_0015783 smooth muscle layer in fatty layer of subcutaneous tissue 'smooth muscle layer in fatty layer of subcutaneous tissue' SubClassOf 'smooth muscle tissue' http://purl.obolibrary.org/obo/UBERON_0013125 left subcardinal vein 'left subcardinal vein' SubClassOf 'subcardinal vein' http://purl.obolibrary.org/obo/UBERON_0013124 left posterior cardinal vein 'left posterior cardinal vein' SubClassOf 'posterior cardinal vein' http://purl.obolibrary.org/obo/UBERON_0001152 cystic duct 'cystic duct' DisjointWith 'hepatic duct' 'cystic duct' SubClassOf 'extrahepatic bile duct' http://purl.obolibrary.org/obo/UBERON_0013151 choroidal artery 'choroidal artery' SubClassOf 'artery' http://purl.obolibrary.org/obo/UBERON_0013156 1st arch mandibular endoderm '1st arch mandibular endoderm' SubClassOf 'endoderm of foregut' http://purl.obolibrary.org/obo/UBERON_0013155 1st arch mandibular ectoderm '1st arch mandibular ectoderm' SubClassOf 'ecto-epithelium' '1st arch mandibular ectoderm' SubClassOf 'unilaminar epithelium' '1st arch mandibular ectoderm' SubClassOf 'foregut epithelium' http://purl.obolibrary.org/obo/UBERON_0013154 1st arch maxillary endoderm '1st arch maxillary endoderm' SubClassOf 'endoderm of foregut' http://purl.obolibrary.org/obo/UBERON_0013159 epithalamus mantle layer 'epithalamus mantle layer' SubClassOf 'neural tube mantle layer' http://purl.obolibrary.org/obo/UBERON_0013158 foregut-midgut junction gland 'foregut-midgut junction gland' SubClassOf 'gland of digestive tract' http://purl.obolibrary.org/obo/UBERON_0013157 1st arch maxillary-mandibular cleft '1st arch maxillary-mandibular cleft' SubClassOf 'pharyngeal cleft' '1st arch maxillary-mandibular cleft' SubClassOf 'endoderm of foregut' http://purl.obolibrary.org/obo/UBERON_0013141 capillary bed 'capillary bed' SubClassOf 'squamous epithelium' 'capillary bed' SubClassOf 'epithelial plexus' http://purl.obolibrary.org/obo/UBERON_0013140 systemic vein 'systemic vein' SubClassOf 'vein' http://purl.obolibrary.org/obo/UBERON_0013145 accessory saphenous vein 'accessory saphenous vein' SubClassOf 'saphenous vein' http://purl.obolibrary.org/obo/UBERON_0013144 vein of genicular venous plexus 'vein of genicular venous plexus' SubClassOf 'leg blood vessel' 'vein of genicular venous plexus' SubClassOf 'vein' http://purl.obolibrary.org/obo/UBERON_0013143 gastrocnemius vein 'gastrocnemius vein' SubClassOf 'vein of hindlimb zeugopod' http://purl.obolibrary.org/obo/UBERON_0013142 soleal vein 'soleal vein' SubClassOf 'vein of hindlimb zeugopod' http://purl.obolibrary.org/obo/UBERON_0013146 venous system of brain 'venous system of brain' SubClassOf 'anatomical system' http://purl.obolibrary.org/obo/UBERON_0001170 mesentery of small intestine 'mesentery of small intestine' SubClassOf 'peritoneal mesentery' http://purl.obolibrary.org/obo/UBERON_0001174 common bile duct 'common bile duct' SubClassOf 'extrahepatic bile duct' http://purl.obolibrary.org/obo/UBERON_0001175 common hepatic duct 'common hepatic duct' SubClassOf 'extrahepatic bile duct' http://purl.obolibrary.org/obo/UBERON_0001176 right hepatic duct 'right hepatic duct' SubClassOf 'extrahepatic bile duct' http://purl.obolibrary.org/obo/UBERON_0001177 left hepatic duct 'left hepatic duct' SubClassOf 'extrahepatic bile duct' http://purl.obolibrary.org/obo/MONDO_0020206 rare refraction anomaly 'rare refraction anomaly' SubClassOf 'eye disease' 'rare refraction anomaly' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0007254 breast cancer 'breast cancer' SubClassOf 'thoracic cancer' 'breast cancer' SubClassOf 'breast neoplasm' http://purl.obolibrary.org/obo/MONDO_0007263 cardiac rhythm disease 'cardiac rhythm disease' SubClassOf 'heart conduction disease' http://purl.obolibrary.org/obo/MONDO_0020226 chromosomal anomaly with cataract 'chromosomal anomaly with cataract' SubClassOf 'disease has major feature' some 'cataract' 'chromosomal anomaly with cataract' SubClassOf 'Chromosomal anomaly' 'chromosomal anomaly with cataract' EquivalentTo 'Chromosomal anomaly' and ('disease has major feature' some 'cataract') 'chromosomal anomaly with cataract' SubClassOf 'congenital nervous system disorder' 'chromosomal anomaly with cataract' SubClassOf 'Rare genetic neurological disorder' 'chromosomal anomaly with cataract' SubClassOf 'Syndromic cataract' http://purl.obolibrary.org/obo/MONDO_0019252 other metabolic disease with skin involvement 'other metabolic disease with skin involvement' SubClassOf 'Metabolic disease with skin involvement' http://purl.obolibrary.org/obo/MONDO_0019271 acrokeratoderma 'acrokeratoderma' SubClassOf 'rare epidermal disease' http://purl.obolibrary.org/obo/MONDO_0019270 erythrokeratoderma 'erythrokeratoderma' SubClassOf 'rare epidermal disease' http://purl.obolibrary.org/obo/MONDO_0019268 rare epidermal disease 'rare epidermal disease' SubClassOf 'skin disease' 'rare epidermal disease' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0019269 ichthyosis (disease) 'ichthyosis (disease)' SubClassOf 'rare epidermal disease' http://purl.obolibrary.org/obo/MONDO_0019283 nail anomaly 'nail anomaly' SubClassOf 'nail disease' 'nail anomaly' SubClassOf 'epidermal appendage anomaly' http://purl.obolibrary.org/obo/MONDO_0044203 foveal hypoplasia 'foveal hypoplasia' SubClassOf 'inherited genetic disease' http://purl.obolibrary.org/obo/MONDO_0044209 disorder of lectin complement activation pathway 'disorder of lectin complement activation pathway' SubClassOf 'complement deficiency' http://purl.obolibrary.org/obo/MONDO_0019278 hair anomaly 'hair anomaly' SubClassOf 'disease of pilosebaceous unit' 'hair anomaly' SubClassOf 'epidermal appendage anomaly' http://purl.obolibrary.org/obo/MONDO_0019274 other epidermal disorder 'other epidermal disorder' SubClassOf 'rare epidermal disease' http://purl.obolibrary.org/obo/MONDO_0019277 epidermal appendage anomaly 'epidermal appendage anomaly' SubClassOf 'skin appendage disease' 'epidermal appendage anomaly' SubClassOf 'has modifier' some 'rare' 'epidermal appendage anomaly' SubClassOf 'skin disease' http://purl.obolibrary.org/obo/MONDO_0019293 skin vascular disease 'skin vascular disease' SubClassOf 'skin disease' 'skin vascular disease' SubClassOf 'vascular disease' http://purl.obolibrary.org/obo/MONDO_0019294 mixed dermis disorder 'mixed dermis disorder' SubClassOf 'has modifier' some 'rare' 'mixed dermis disorder' SubClassOf 'dermis disease' http://purl.obolibrary.org/obo/MONDO_0019286 sebaceous gland anomaly 'sebaceous gland anomaly' SubClassOf 'epidermal appendage anomaly' 'sebaceous gland anomaly' SubClassOf 'sebaceous gland disease' http://purl.obolibrary.org/obo/MONDO_0020295 congenital pulmonary veins anomaly 'congenital pulmonary veins anomaly' SubClassOf 'congenital heart disease' 'congenital pulmonary veins anomaly' SubClassOf 'congenital anomaly of the great veins' http://purl.obolibrary.org/obo/MONDO_0020294 atrial defect and interatrial communication 'atrial defect and interatrial communication' SubClassOf 'congenital heart malformation' http://purl.obolibrary.org/obo/MONDO_0019296 subcutaneous tissue disease 'subcutaneous tissue disease' SubClassOf 'integumentary system disease' http://purl.obolibrary.org/obo/MONDO_0020289 congenital tricuspid malformation 'congenital tricuspid malformation' SubClassOf 'tricuspid valve disease' 'congenital tricuspid malformation' SubClassOf 'atrioventricular valve anomaly' http://purl.obolibrary.org/obo/MONDO_0020288 atrioventricular valve anomaly 'atrioventricular valve anomaly' SubClassOf 'heart valve disease' 'atrioventricular valve anomaly' SubClassOf 'congenital heart malformation' http://purl.obolibrary.org/obo/MONDO_0020286 aortic malformation 'aortic malformation' SubClassOf 'aortic disease' 'aortic malformation' SubClassOf 'congenital anomaly of the great arteries' 'aortic malformation' SubClassOf 'transposition of the great arteries and conotruncal cardiac anomaly' http://purl.obolibrary.org/obo/MONDO_0020285 transposition of the great arteries and conotruncal cardiac anomaly 'transposition of the great arteries and conotruncal cardiac anomaly' SubClassOf 'congenital heart malformation' http://purl.obolibrary.org/obo/MONDO_0020284 heart position anomaly 'heart position anomaly' SubClassOf 'congenital heart malformation' http://purl.obolibrary.org/obo/UBERON_0003827 thoracic segment bone 'thoracic segment bone' SubClassOf 'trunk bone' http://purl.obolibrary.org/obo/UBERON_0003826 upper leg bone 'upper leg bone' SubClassOf 'leg bone' http://purl.obolibrary.org/obo/UBERON_0003828 abdominal segment bone 'abdominal segment bone' SubClassOf 'trunk bone' http://purl.obolibrary.org/obo/UBERON_0003823 hindlimb zeugopod 'hindlimb zeugopod' SubClassOf 'zeugopod' http://purl.obolibrary.org/obo/UBERON_0003822 forelimb stylopod 'forelimb stylopod' SubClassOf 'stylopod' http://purl.obolibrary.org/obo/UBERON_0003825 nerve of abdominal segment 'nerve of abdominal segment' SubClassOf 'nerve of trunk region' http://purl.obolibrary.org/obo/UBERON_0003824 nerve of thoracic segment 'nerve of thoracic segment' SubClassOf 'nerve of trunk region' http://purl.obolibrary.org/obo/UBERON_0015813 middle ear epithelium 'middle ear epithelium' SubClassOf 'ear epithelium' http://purl.obolibrary.org/obo/UBERON_0015814 outer ear epithelium 'outer ear epithelium' SubClassOf 'ear epithelium' http://purl.obolibrary.org/obo/UBERON_0003821 metapodium bone 'metapodium bone' SubClassOf 'limb long bone' 'metapodium bone' SubClassOf 'digitopodium bone' http://purl.obolibrary.org/obo/UBERON_0003820 prostate bud 'prostate bud' SubClassOf 'epithelial bud' 'prostate bud' SubClassOf 'urogenital sinus epithelium' http://purl.obolibrary.org/obo/UBERON_0003839 forelimb joint 'forelimb joint' SubClassOf 'limb joint' http://purl.obolibrary.org/obo/UBERON_0003834 thoracic segment blood vessel 'thoracic segment blood vessel' SubClassOf 'trunk blood vessel' http://purl.obolibrary.org/obo/UBERON_0003833 abdominal segment muscle 'abdominal segment muscle' SubClassOf 'skeletal muscle of trunk' http://purl.obolibrary.org/obo/UBERON_0003836 abdominal segment skin 'abdominal segment skin' SubClassOf 'skin of trunk' http://purl.obolibrary.org/obo/UBERON_0003835 abdominal segment blood vessel 'abdominal segment blood vessel' SubClassOf 'trunk blood vessel' http://purl.obolibrary.org/obo/UBERON_0015807 ear epithelium 'ear epithelium' SubClassOf 'sensory organ epithelium' http://purl.obolibrary.org/obo/UBERON_0015808 eye epithelium 'eye epithelium' SubClassOf 'ecto-epithelium' 'eye epithelium' SubClassOf 'pigment epithelium of eye' http://purl.obolibrary.org/obo/UBERON_0003830 thoracic segment muscle 'thoracic segment muscle' SubClassOf 'skeletal muscle of trunk' http://purl.obolibrary.org/obo/UBERON_6005393 embryonic/larval integumentary system 'embryonic/larval integumentary system' SubClassOf 'integumental system' http://purl.obolibrary.org/obo/UBERON_6005396 adult integumentary system 'adult integumentary system' SubClassOf 'integumental system' http://purl.obolibrary.org/obo/UBERON_0003647 metacarpal bone of digit 3 'metacarpal bone of digit 3' SubClassOf 'metapodium bone 3' 'metacarpal bone of digit 3' SubClassOf 'metacarpal bone' http://purl.obolibrary.org/obo/UBERON_0003646 metacarpal bone of digit 2 'metacarpal bone of digit 2' SubClassOf 'metacarpal bone' 'metacarpal bone of digit 2' SubClassOf 'metapodium bone 2' http://purl.obolibrary.org/obo/UBERON_0003649 metacarpal bone of digit 5 'metacarpal bone of digit 5' SubClassOf 'metapodium bone 5' 'metacarpal bone of digit 5' SubClassOf 'metacarpal bone' http://purl.obolibrary.org/obo/UBERON_0003648 metacarpal bone of digit 4 'metacarpal bone of digit 4' SubClassOf 'metacarpal bone' 'metacarpal bone of digit 4' SubClassOf 'metapodium bone 4' http://purl.obolibrary.org/obo/UBERON_0003643 respiratory system arterial blood vessel 'respiratory system arterial blood vessel' SubClassOf 'arterial blood vessel' 'respiratory system arterial blood vessel' SubClassOf 'respiratory system blood vessel' http://purl.obolibrary.org/obo/UBERON_0003642 pedal digit 3 phalanx 'pedal digit 3 phalanx' SubClassOf 'phalanx of pes' http://purl.obolibrary.org/obo/UBERON_0003645 metacarpal bone of digit 1 'metacarpal bone of digit 1' SubClassOf 'metapodium bone 1' 'metacarpal bone of digit 1' SubClassOf 'metacarpal bone' http://purl.obolibrary.org/obo/UBERON_0003644 kidney arterial blood vessel 'kidney arterial blood vessel' SubClassOf 'kidney blood vessel' 'kidney arterial blood vessel' SubClassOf 'arterial blood vessel' http://purl.obolibrary.org/obo/UBERON_0003641 pedal digit 2 phalanx 'pedal digit 2 phalanx' SubClassOf 'phalanx of pes' http://purl.obolibrary.org/obo/UBERON_0003640 pedal digit 1 phalanx 'pedal digit 1 phalanx' SubClassOf 'phalanx of pes' http://purl.obolibrary.org/obo/UBERON_0003658 hip muscle 'hip muscle' SubClassOf 'pelvic complex muscle' http://purl.obolibrary.org/obo/UBERON_0003657 limb joint 'limb joint' SubClassOf 'skeletal joint' http://purl.obolibrary.org/obo/UBERON_0003659 pedal digit muscle 'pedal digit muscle' SubClassOf 'muscle of pes' http://purl.obolibrary.org/obo/UBERON_0003654 metatarsal bone of digit 5 'metatarsal bone of digit 5' SubClassOf 'metapodium bone 5' 'metatarsal bone of digit 5' SubClassOf 'metatarsal bone' http://purl.obolibrary.org/obo/UBERON_0003653 metatarsal bone of digit 4 'metatarsal bone of digit 4' SubClassOf 'metatarsal bone' 'metatarsal bone of digit 4' SubClassOf 'metapodium bone 4' http://purl.obolibrary.org/obo/UBERON_0003656 mesopodium bone 'mesopodium bone' SubClassOf 'short bone' 'mesopodium bone' SubClassOf 'autopod bone' http://purl.obolibrary.org/obo/UBERON_0003655 molar tooth 'molar tooth' DisjointWith 'cuspid' 'molar tooth' SubClassOf 'molariform tooth' 'molar tooth' DisjointWith 'premolar tooth' 'incisor tooth' DisjointWith 'molar tooth' http://purl.obolibrary.org/obo/UBERON_0003650 metatarsal bone of digit 1 'metatarsal bone of digit 1' SubClassOf 'metatarsal bone' 'metatarsal bone of digit 1' SubClassOf 'metapodium bone 1' http://purl.obolibrary.org/obo/UBERON_0003652 metatarsal bone of digit 3 'metatarsal bone of digit 3' SubClassOf 'metatarsal bone' 'metatarsal bone of digit 3' SubClassOf 'metapodium bone 3' http://purl.obolibrary.org/obo/UBERON_0003651 metatarsal bone of digit 2 'metatarsal bone of digit 2' SubClassOf 'metapodium bone 2' 'metatarsal bone of digit 2' SubClassOf 'metatarsal bone' http://purl.obolibrary.org/obo/UBERON_0003665 post-anal tail muscle 'post-anal tail muscle' SubClassOf 'muscle of vertebral column' http://purl.obolibrary.org/obo/UBERON_0003664 manual digit muscle 'manual digit muscle' SubClassOf 'muscle of manus' http://purl.obolibrary.org/obo/UBERON_0003667 lower jaw molar 'lower jaw molar' SubClassOf 'molar tooth' 'lower jaw molar' SubClassOf 'dentary tooth' http://purl.obolibrary.org/obo/UBERON_0003666 upper jaw molar 'upper jaw molar' SubClassOf 'maxillary tooth' 'upper jaw molar' SubClassOf 'molar tooth' http://purl.obolibrary.org/obo/UBERON_0003661 limb muscle 'limb muscle' SubClassOf 'skeletal muscle organ' http://purl.obolibrary.org/obo/UBERON_0003662 forelimb muscle 'forelimb muscle' SubClassOf 'pectoral appendage muscle' 'forelimb muscle' SubClassOf 'limb muscle' http://purl.obolibrary.org/obo/UBERON_6005467 lymph gland primordium 'lymph gland primordium' SubClassOf 'embryonic structure' 'lymph gland primordium' SubClassOf 'circulatory system primordium' http://purl.obolibrary.org/obo/UBERON_6005461 circulatory system primordium 'circulatory system primordium' SubClassOf 'primordium' http://purl.obolibrary.org/obo/UBERON_0003676 patellar ligament 'patellar ligament' SubClassOf 'ligament of knee joint' http://purl.obolibrary.org/obo/UBERON_0003671 anterior cruciate ligament of knee joint 'anterior cruciate ligament of knee joint' SubClassOf 'cruciate ligament of knee' 'anterior cruciate ligament of knee joint' DisjointWith 'posterior cruciate ligament of knee joint' http://purl.obolibrary.org/obo/UBERON_0003674 cuspid 'molar tooth' DisjointWith 'cuspid' 'incisor tooth' DisjointWith 'cuspid' 'cuspid' DisjointWith 'premolar tooth' 'cuspid' SubClassOf 'tooth' http://purl.obolibrary.org/obo/UBERON_0003673 ligamentum flavum 'ligamentum flavum' SubClassOf 'ligament' http://purl.obolibrary.org/obo/UBERON_0003607 forelimb long bone 'forelimb long bone' SubClassOf 'limb long bone' 'forelimb long bone' SubClassOf 'forelimb bone' http://purl.obolibrary.org/obo/UBERON_0003606 limb long bone 'limb long bone' SubClassOf 'long bone' 'limb long bone' SubClassOf 'limb bone' http://purl.obolibrary.org/obo/UBERON_0003608 hindlimb long bone 'hindlimb long bone' SubClassOf 'hindlimb bone' 'hindlimb long bone' SubClassOf 'limb long bone' http://purl.obolibrary.org/obo/UBERON_0003605 eye skin gland 'eye skin gland' SubClassOf 'gland of ocular region' 'eye skin gland' SubClassOf 'eye gland' 'eye skin gland' SubClassOf 'skin gland' http://purl.obolibrary.org/obo/UBERON_0003625 manual digit 5 'manual digit 5' SubClassOf 'digit 5' 'manual digit 5' SubClassOf 'manual digit 1 or 5' http://purl.obolibrary.org/obo/UBERON_0003624 manual digit 4 'manual digit 4' SubClassOf 'manual digit 2, 3 or 4' 'manual digit 4' SubClassOf 'digit 4' http://purl.obolibrary.org/obo/UBERON_6005439 clypeo-labral anlage 'clypeo-labral anlage' SubClassOf 'embryonic structure' 'clypeo-labral anlage' SubClassOf 'anlage' http://purl.obolibrary.org/obo/UBERON_0003620 manual digit 1 phalanx 'manual digit 1 phalanx' SubClassOf 'phalanx of manus' http://purl.obolibrary.org/obo/UBERON_0003623 manual digit 3 'manual digit 3' SubClassOf 'manual digit 2, 3 or 4' 'manual digit 3' SubClassOf 'digit 3' http://purl.obolibrary.org/obo/UBERON_0003622 manual digit 2 'manual digit 2' SubClassOf 'digit 2' 'manual digit 2' SubClassOf 'manual digit 2, 3 or 4' http://purl.obolibrary.org/obo/UBERON_0003639 manual digit 5 phalanx 'manual digit 5 phalanx' SubClassOf 'phalanx of manus' http://purl.obolibrary.org/obo/UBERON_0003636 manual digit 2 phalanx 'manual digit 2 phalanx' SubClassOf 'phalanx of manus' http://purl.obolibrary.org/obo/UBERON_0003635 pedal digit 5 'pedal digit 5' SubClassOf 'pedal digit 1 or 5' 'pedal digit 5' SubClassOf 'digit 5' http://purl.obolibrary.org/obo/UBERON_0003638 manual digit 4 phalanx 'manual digit 4 phalanx' SubClassOf 'phalanx of manus' http://purl.obolibrary.org/obo/UBERON_0003637 manual digit 3 phalanx 'manual digit 3 phalanx' SubClassOf 'phalanx of manus' http://purl.obolibrary.org/obo/UBERON_6005428 dorsal ectoderm anlage 'dorsal ectoderm anlage' SubClassOf 'anlage' http://purl.obolibrary.org/obo/UBERON_6005427 ectoderm anlage 'ectoderm anlage' SubClassOf 'anlage' http://purl.obolibrary.org/obo/UBERON_4400007 camptotrichium 'camptotrichium' SubClassOf 'bony fin ray' http://purl.obolibrary.org/obo/UBERON_0003632 pedal digit 2 'pedal digit 2' SubClassOf 'digit 2' 'pedal digit 2' SubClassOf 'pedal digit 2, 3 or 4' http://purl.obolibrary.org/obo/UBERON_0003631 pedal digit 1 'pedal digit 1' SubClassOf 'digit 1' 'pedal digit 1' SubClassOf 'pedal digit 1 or 5' http://purl.obolibrary.org/obo/UBERON_0003634 pedal digit 4 'pedal digit 4' SubClassOf 'digit 4' 'pedal digit 4' SubClassOf 'pedal digit 2, 3 or 4' http://purl.obolibrary.org/obo/UBERON_0003633 pedal digit 3 'pedal digit 3' SubClassOf 'digit 3' 'pedal digit 3' SubClassOf 'pedal digit 2, 3 or 4' http://purl.obolibrary.org/obo/UBERON_0001068 skin of back 'skin of back' SubClassOf 'skin of trunk' http://purl.obolibrary.org/obo/UBERON_0001067 vertebral arch joint 'vertebral arch joint' SubClassOf 'synovial joint' http://purl.obolibrary.org/obo/UBERON_0001071 superficial cervical artery 'superficial cervical artery' SubClassOf 'cervical artery' http://purl.obolibrary.org/obo/UBERON_0001072 posterior vena cava 'posterior vena cava' DisjointWith 'anterior vena cava' 'posterior vena cava' SubClassOf 'vena cava' http://purl.obolibrary.org/obo/UBERON_0001075 bony vertebral centrum 'bony vertebral centrum' SubClassOf 'endochondral bone' http://purl.obolibrary.org/obo/UBERON_0013078 venom-injecting tooth 'venom-injecting tooth' SubClassOf 'tooth' http://purl.obolibrary.org/obo/UBERON_0013076 snake venom 'snake venom' SubClassOf 'venom' http://purl.obolibrary.org/obo/UBERON_0001084 skin of head 'skin of head' SubClassOf 'head or neck skin' http://purl.obolibrary.org/obo/UBERON_0001085 skin of trunk 'skin of trunk' SubClassOf 'zone of skin' http://purl.obolibrary.org/obo/UBERON_0001081 endocardium of ventricle 'endocardium of ventricle' SubClassOf 'simple squamous epithelium' 'endocardium of ventricle' SubClassOf 'endocardium' 'endocardium of ventricle' SubClassOf 'meso-epithelium' http://purl.obolibrary.org/obo/UBERON_0001087 pleural fluid 'pleural fluid' SubClassOf 'secretion of serous membrane' http://purl.obolibrary.org/obo/UBERON_0001089 sweat 'sweat' SubClassOf 'bodily fluid' http://purl.obolibrary.org/obo/UBERON_0013067 colorectal mucosa 'colorectal mucosa' SubClassOf 'mucosa of large intestine' http://purl.obolibrary.org/obo/UBERON_0001093 vertebral bone 2 'vertebral bone 2' SubClassOf 'vertebra' http://purl.obolibrary.org/obo/UBERON_0001094 sacral vertebra 'sacral vertebra' SubClassOf 'abdominal segment bone' 'sacral vertebra' SubClassOf 'bone of dorsum' 'sacral vertebra' SubClassOf 'vertebra' http://purl.obolibrary.org/obo/UBERON_0001095 caudal vertebra 'caudal vertebra' SubClassOf 'bone of dorsum' 'caudal vertebra' SubClassOf 'vertebra' http://purl.obolibrary.org/obo/UBERON_0001090 synovial fluid 'synovial fluid' SubClassOf 'secretion of serous gland' 'synovial fluid' SubClassOf 'transudate' http://purl.obolibrary.org/obo/UBERON_0001092 vertebral bone 1 'vertebral bone 1' SubClassOf 'vertebra' http://purl.obolibrary.org/obo/UBERON_0001097 axillary lymph node 'axillary lymph node' SubClassOf 'peripheral lymph node' http://purl.obolibrary.org/obo/UBERON_0001098 incisor tooth 'incisor tooth' DisjointWith 'cuspid' 'incisor tooth' SubClassOf 'tooth' 'incisor tooth' DisjointWith 'molar tooth' 'incisor tooth' DisjointWith 'premolar tooth' http://purl.obolibrary.org/obo/UBERON_0001099 subcostal vein 'subcostal vein' SubClassOf 'vein' http://purl.obolibrary.org/obo/MONDO_0009734 hyperinsulinemic hypoglycemia, familial, 1 'hyperinsulinemic hypoglycemia, familial, 1' SubClassOf 'hyperinsulinemic hypoglycemia' http://purl.obolibrary.org/obo/UBERON_0003681 masticatory muscle 'facial muscle' DisjointWith 'masticatory muscle' 'masticatory muscle' SubClassOf 'mandibular muscle' http://purl.obolibrary.org/obo/UBERON_0003680 posterior cruciate ligament of knee joint 'posterior cruciate ligament of knee joint' SubClassOf 'cruciate ligament of knee' 'anterior cruciate ligament of knee joint' DisjointWith 'posterior cruciate ligament of knee joint' http://purl.obolibrary.org/obo/UBERON_0001027 sensory nerve 'sensory nerve' SubClassOf 'nerve' http://purl.obolibrary.org/obo/UBERON_0003682 palatal muscle 'palatal muscle' SubClassOf 'craniocervical muscle' http://purl.obolibrary.org/obo/UBERON_0003685 cranial suture 'cranial suture' SubClassOf 'craniofacial suture' http://purl.obolibrary.org/obo/MONDO_0009741 neuroblastoma, susceptibility to 'neuroblastoma, susceptibility to' SubClassOf 'inherited disease susceptibility' 'neuroblastoma, susceptibility to' SubClassOf 'predisposes towards' some 'neuroblastoma' 'neuroblastoma, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'neuroblastoma') http://purl.obolibrary.org/obo/UBERON_0003692 acromioclavicular joint 'acromioclavicular joint' SubClassOf 'synovial joint of pectoral girdle' 'acromioclavicular joint' SubClassOf 'shoulder joint' http://purl.obolibrary.org/obo/UBERON_0001035 dento-alveolar joint 'dento-alveolar joint' SubClassOf 'fibrous joint' http://purl.obolibrary.org/obo/UBERON_0003698 subtalar joint 'subtalar joint' SubClassOf 'intertarsal joint' http://purl.obolibrary.org/obo/UBERON_0003699 pubic symphysis 'pubic symphysis' SubClassOf 'joint of girdle' 'pubic symphysis' SubClassOf 'symphysis' http://purl.obolibrary.org/obo/UBERON_0003694 atlanto-axial joint 'atlanto-axial joint' SubClassOf 'skeletal joint' http://purl.obolibrary.org/obo/UBERON_0003696 metatarsophalangeal joint 'metatarsophalangeal joint' SubClassOf 'pes joint' http://purl.obolibrary.org/obo/UBERON_0003695 metacarpophalangeal joint 'metacarpophalangeal joint' SubClassOf 'manus joint' http://purl.obolibrary.org/obo/UBERON_0001049 neural tube 'neural tube' SubClassOf 'ecto-epithelium' 'neural tube' SubClassOf 'epithelial tube' 'neural tube' SubClassOf 'future central nervous system' http://purl.obolibrary.org/obo/MONDO_0007117 angioedema, hereditary, type 1/2 'angioedema, hereditary, type 1/2' SubClassOf 'Hereditary angioedema' http://purl.obolibrary.org/obo/MONDO_0019116 catecholamine-producing tumor 'catecholamine-producing tumor' SubClassOf 'Genetic renal tumor' 'catecholamine-producing tumor' SubClassOf 'Genetic hypertension' 'catecholamine-producing tumor' SubClassOf 'blood vessel neoplasm' 'catecholamine-producing tumor' SubClassOf 'rare genetic vascular tumor' 'catecholamine-producing tumor' SubClassOf 'adrenal/paraganglial tumor' http://purl.obolibrary.org/obo/MONDO_0019112 cancer-associated retinopathy 'cancer-associated retinopathy' SubClassOf 'paraneoplastic neurologic syndrome' 'cancer-associated retinopathy' SubClassOf 'retinopathy' 'cancer-associated retinopathy' EquivalentTo 'retinopathy' and ('disease arises from feature' some 'cancer') 'cancer-associated retinopathy' SubClassOf 'disease arises from feature' some 'cancer' http://purl.obolibrary.org/obo/MONDO_0020136 neurodegenerative disease with dementia 'neurodegenerative disease with dementia' SubClassOf 'cognitive disorder' 'neurodegenerative disease with dementia' SubClassOf 'neurodegenerative disease' 'neurodegenerative disease with dementia' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0020134 cystic malformation of the posterior fossa 'cystic malformation of the posterior fossa' SubClassOf 'Genetic posterior fossa malformation' 'cystic malformation of the posterior fossa' SubClassOf 'central nervous system cystic malformation' http://purl.obolibrary.org/obo/MONDO_0020130 malformation of the cerebellar vermis 'malformation of the cerebellar vermis' SubClassOf 'Genetic cerebellar malformation' http://purl.obolibrary.org/obo/MONDO_0019139 acquired hemophilia 'acquired hemophilia' EquivalentTo 'Hemophilia' and ('has modifier' some 'acquired') 'acquired hemophilia' SubClassOf 'acquired coagulation factor deficiency' 'acquired hemophilia' SubClassOf 'hemorrhagic disorder due to an acquired coagulation factor defect' 'acquired hemophilia' SubClassOf 'Hemophilia' http://purl.obolibrary.org/obo/MONDO_0020125 acquired neuromuscular junction disease 'acquired neuromuscular junction disease' EquivalentTo 'Genetic neuromuscular junction disease' and ('has modifier' some 'acquired') 'acquired neuromuscular junction disease' SubClassOf 'Genetic neuromuscular junction disease' 'acquired neuromuscular junction disease' SubClassOf 'acquired peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0020122 idiopathic inflammatory myopathy 'idiopathic inflammatory myopathy' SubClassOf 'acquired skeletal muscle disease' 'idiopathic inflammatory myopathy' SubClassOf 'systemic autoimmune disease' 'idiopathic inflammatory myopathy' SubClassOf 'autoimmune disease of musculoskeletal system' 'idiopathic inflammatory myopathy' SubClassOf 'autoimmune neuropathy' 'idiopathic inflammatory myopathy' SubClassOf 'Rare genetic systemic or rheumatologic disease' http://purl.obolibrary.org/obo/MONDO_0020129 acquired motor neuron disease 'acquired motor neuron disease' SubClassOf 'motor neuron disease' 'acquired motor neuron disease' SubClassOf 'acquired peripheral neuropathy' 'acquired motor neuron disease' EquivalentTo 'motor neuron disease' and ('has modifier' some 'acquired') http://purl.obolibrary.org/obo/MONDO_0019142 inherited porphyria 'inherited porphyria' EquivalentTo 'Porphyria' and ('has modifier' some 'inherited') 'inherited porphyria' SubClassOf 'genetic skin disease' 'inherited porphyria' SubClassOf 'Disorder of porphyrin and haem metabolism' 'inherited porphyria' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'inherited porphyria' SubClassOf 'Metabolic disease with skin involvement' 'inherited porphyria' SubClassOf 'Genetic photodermatosis' 'inherited porphyria' SubClassOf 'rare photodermatosis' http://purl.obolibrary.org/obo/MONDO_0020150 rare palpebral, lacrimal system and conjunctival disease 'rare palpebral, lacrimal system and conjunctival disease' SubClassOf 'disease of orbital region' http://purl.obolibrary.org/obo/MONDO_0007182 Machado-Joseph disease 'Machado-Joseph disease' SubClassOf 'Autosomal dominant cerebellar ataxia type 1' 'Machado-Joseph disease' SubClassOf 'Huntington disease-like syndrome' http://purl.obolibrary.org/obo/MONDO_0020147 anophthalmia-microphthalmia syndrome 'anophthalmia-microphthalmia syndrome' SubClassOf 'Major induction processes eye anomaly' http://purl.obolibrary.org/obo/MONDO_0020143 cerebral lipidosis with dementia 'cerebral lipidosis with dementia' SubClassOf 'Metabolic disease with dementia' 'cerebral lipidosis with dementia' SubClassOf 'Lipid storage disease' 'cerebral lipidosis with dementia' SubClassOf 'brain disease' http://purl.obolibrary.org/obo/MONDO_0020141 infectious disease with dementia 'infectious disease with dementia' SubClassOf 'has modifier' some 'rare' 'infectious disease with dementia' SubClassOf 'infectious disease' 'infectious disease with dementia' SubClassOf 'cognitive disorder' http://purl.obolibrary.org/obo/MONDO_0020172 palpebral epidermal tumor 'palpebral epidermal tumor' SubClassOf 'eyelid neoplasm' http://purl.obolibrary.org/obo/MONDO_0020173 benign tumor of palpebral epidermis 'benign tumor of palpebral epidermis' SubClassOf 'palpebral epidermal tumor' 'benign tumor of palpebral epidermis' SubClassOf 'benign eyelid neoplasm' http://purl.obolibrary.org/obo/MONDO_0019193 acquired generalized lipodystrophy 'acquired generalized lipodystrophy' SubClassOf 'Rare insulin-resistance syndrome' 'acquired generalized lipodystrophy' SubClassOf 'generalized lipodystrophy' 'acquired generalized lipodystrophy' EquivalentTo 'generalized lipodystrophy' and ('has modifier' some 'acquired') 'acquired generalized lipodystrophy' SubClassOf 'acquired lipodystrophy' http://purl.obolibrary.org/obo/MONDO_0019191 IgG4-related dacryoadenitis and sialadenitis 'IgG4-related dacryoadenitis and sialadenitis' SubClassOf 'lacrimal apparatus disease' 'IgG4-related dacryoadenitis and sialadenitis' SubClassOf 'autoimmune disease of ear, nose and throat' 'IgG4-related dacryoadenitis and sialadenitis' SubClassOf 'IgG4-related ophthalmic disease' 'IgG4-related dacryoadenitis and sialadenitis' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0020169 rare disorder with ptosis 'rare disorder with ptosis' SubClassOf 'Kinetic eyelid anomaly' http://purl.obolibrary.org/obo/UBERON_0003708 carotid sinus 'carotid sinus' SubClassOf 'common carotid artery plus branches' http://purl.obolibrary.org/obo/UBERON_0003701 calcaneal tendon 'calcaneal tendon' SubClassOf 'skeletal ligament' http://purl.obolibrary.org/obo/UBERON_0003704 intrahepatic bile duct 'intrahepatic bile duct' SubClassOf 'bile duct' http://purl.obolibrary.org/obo/UBERON_0003703 extrahepatic bile duct 'extrahepatic bile duct' SubClassOf 'bile duct' http://purl.obolibrary.org/obo/UBERON_0003709 circle of Willis 'circle of Willis' SubClassOf 'systemic artery' http://purl.obolibrary.org/obo/UBERON_0003700 temporomandibular joint 'temporomandibular joint' SubClassOf 'joint connecting upper and lower jaws' http://purl.obolibrary.org/obo/UBERON_0003716 recurrent laryngeal nerve 'recurrent laryngeal nerve' SubClassOf 'nerve of head region' 'recurrent laryngeal nerve' SubClassOf 'laryngeal nerve' http://purl.obolibrary.org/obo/UBERON_0003713 splenic vein 'splenic vein' SubClassOf 'vein' http://purl.obolibrary.org/obo/UBERON_0003712 cavernous sinus 'cavernous sinus' SubClassOf 'venous dural sinus' http://purl.obolibrary.org/obo/UBERON_0003715 splanchnic nerve 'splanchnic nerve' SubClassOf 'sympathetic nerve' http://purl.obolibrary.org/obo/UBERON_0003711 brachiocephalic vein 'brachiocephalic vein' SubClassOf 'vein' http://purl.obolibrary.org/obo/UBERON_0003710 vasa vasorum 'vasa vasorum' SubClassOf 'blood vessel' http://purl.obolibrary.org/obo/UBERON_0003529 respiratory system lymphatic vessel endothelium 'respiratory system lymphatic vessel endothelium' SubClassOf 'lymphatic vessel endothelium' 'respiratory system lymphatic vessel endothelium' SubClassOf 'respiratory system epithelium' http://purl.obolibrary.org/obo/UBERON_0003526 respiratory system capillary 'respiratory system capillary' SubClassOf 'respiratory system blood vessel' 'respiratory system capillary' SubClassOf 'capillary' http://purl.obolibrary.org/obo/UBERON_0003527 kidney capillary 'kidney capillary' SubClassOf 'kidney blood vessel' 'kidney capillary' SubClassOf 'capillary' http://purl.obolibrary.org/obo/UBERON_0003522 manual digit blood vessel 'manual digit blood vessel' SubClassOf 'manus blood vessel' http://purl.obolibrary.org/obo/UBERON_0003521 pes blood vessel 'pes blood vessel' SubClassOf 'hindlimb blood vessel' http://purl.obolibrary.org/obo/UBERON_0003524 tail blood vessel 'tail blood vessel' SubClassOf 'blood vessel' http://purl.obolibrary.org/obo/UBERON_0003523 manus blood vessel 'manus blood vessel' SubClassOf 'forelimb blood vessel' http://purl.obolibrary.org/obo/UBERON_0003520 pelvis blood vessel 'pelvis blood vessel' SubClassOf 'abdominal segment blood vessel' http://purl.obolibrary.org/obo/UBERON_0003539 left lung bronchiole 'left lung bronchiole' SubClassOf 'bronchiole' http://purl.obolibrary.org/obo/UBERON_0003538 right lung bronchiole 'right lung bronchiole' SubClassOf 'bronchiole' http://purl.obolibrary.org/obo/UBERON_0003533 manual digit skin 'manual digit skin' SubClassOf 'skin of manus' 'manual digit skin' SubClassOf 'digit skin' http://purl.obolibrary.org/obo/UBERON_0003532 hindlimb skin 'hindlimb skin' SubClassOf 'skin of limb' http://purl.obolibrary.org/obo/UBERON_0003534 tail skin 'tail skin' SubClassOf 'zone of skin' http://purl.obolibrary.org/obo/UBERON_0003531 forelimb skin 'forelimb skin' SubClassOf 'skin of limb' http://purl.obolibrary.org/obo/UBERON_0003530 pedal digit skin 'pedal digit skin' SubClassOf 'skin of pes' 'pedal digit skin' SubClassOf 'digit skin' http://purl.obolibrary.org/obo/UBERON_0003548 forebrain meninges 'forebrain meninges' SubClassOf 'brain meninx' http://purl.obolibrary.org/obo/UBERON_0003547 brain meninx 'brain meninx' SubClassOf 'meninx' http://purl.obolibrary.org/obo/UBERON_0003549 brain pia mater 'brain pia mater' SubClassOf 'brain meninx' 'brain pia mater' SubClassOf 'pia mater' http://purl.obolibrary.org/obo/UBERON_0003543 left lung respiratory bronchiole 'left lung respiratory bronchiole' SubClassOf 'left lung bronchiole' 'left lung respiratory bronchiole' SubClassOf 'respiratory bronchiole' http://purl.obolibrary.org/obo/UBERON_0003546 distal convoluted tubule macula densa 'distal convoluted tubule macula densa' SubClassOf 'macula densa' 'distal convoluted tubule macula densa' SubClassOf 'meso-epithelium' http://purl.obolibrary.org/obo/UBERON_0003540 right lung terminal bronchiole 'right lung terminal bronchiole' SubClassOf 'terminal bronchiole' 'right lung terminal bronchiole' SubClassOf 'right lung bronchiole' http://purl.obolibrary.org/obo/UBERON_0003542 right lung respiratory bronchiole 'right lung respiratory bronchiole' SubClassOf 'respiratory bronchiole' 'right lung respiratory bronchiole' SubClassOf 'right lung bronchiole' http://purl.obolibrary.org/obo/UBERON_0003541 left lung terminal bronchiole 'left lung terminal bronchiole' SubClassOf 'left lung bronchiole' 'left lung terminal bronchiole' SubClassOf 'terminal bronchiole' http://purl.obolibrary.org/obo/UBERON_0003559 hindbrain arachnoid mater 'hindbrain arachnoid mater' SubClassOf 'meninx of hindbrain' 'hindbrain arachnoid mater' SubClassOf 'arachnoid mater' http://purl.obolibrary.org/obo/UBERON_0003558 diencephalon arachnoid mater 'diencephalon arachnoid mater' SubClassOf 'forebrain arachnoid mater' 'diencephalon arachnoid mater' SubClassOf 'meninx of diencephalon' http://purl.obolibrary.org/obo/UBERON_0003555 spinal cord pia mater 'spinal cord pia mater' SubClassOf 'meninx of spinal cord' 'spinal cord pia mater' SubClassOf 'pia mater' http://purl.obolibrary.org/obo/UBERON_0003554 hindbrain pia mater 'hindbrain pia mater' SubClassOf 'meninx of hindbrain' 'hindbrain pia mater' SubClassOf 'brain pia mater' http://purl.obolibrary.org/obo/UBERON_0003557 midbrain arachnoid mater 'midbrain arachnoid mater' SubClassOf 'meninx of midbrain' 'midbrain arachnoid mater' SubClassOf 'arachnoid mater' http://purl.obolibrary.org/obo/UBERON_0003556 forebrain arachnoid mater 'forebrain arachnoid mater' SubClassOf 'arachnoid mater' 'forebrain arachnoid mater' SubClassOf 'forebrain meninges' http://purl.obolibrary.org/obo/UBERON_0003551 midbrain pia mater 'midbrain pia mater' SubClassOf 'brain pia mater' 'midbrain pia mater' SubClassOf 'meninx of midbrain' http://purl.obolibrary.org/obo/UBERON_0003550 forebrain pia mater 'forebrain pia mater' SubClassOf 'forebrain meninges' 'forebrain pia mater' SubClassOf 'brain pia mater' http://purl.obolibrary.org/obo/UBERON_0003553 diencephalon pia mater 'diencephalon pia mater' SubClassOf 'forebrain pia mater' 'diencephalon pia mater' SubClassOf 'meninx of diencephalon' http://purl.obolibrary.org/obo/UBERON_0003552 telencephalon pia mater 'telencephalon pia mater' SubClassOf 'meninx of telencephalon' 'telencephalon pia mater' SubClassOf 'forebrain pia mater' http://purl.obolibrary.org/obo/UBERON_0003508 pedal digit blood vessel 'pedal digit blood vessel' SubClassOf 'pes blood vessel' http://purl.obolibrary.org/obo/UBERON_0003507 arm blood vessel 'arm blood vessel' SubClassOf 'forelimb blood vessel' http://purl.obolibrary.org/obo/UBERON_0003509 arterial blood vessel 'arterial blood vessel' SubClassOf 'blood vessel' http://purl.obolibrary.org/obo/UBERON_0003504 respiratory system blood vessel 'respiratory system blood vessel' SubClassOf 'blood vessel' http://purl.obolibrary.org/obo/UBERON_0003503 leg blood vessel 'leg blood vessel' SubClassOf 'hindlimb blood vessel' http://purl.obolibrary.org/obo/UBERON_0003506 chest blood vessel 'chest blood vessel' SubClassOf 'thoracic segment blood vessel' http://purl.obolibrary.org/obo/UBERON_0003500 corneal blood vessel 'corneal blood vessel' SubClassOf 'head blood vessel' http://purl.obolibrary.org/obo/UBERON_0003502 neck blood vessel 'neck blood vessel' SubClassOf 'blood vessel' http://purl.obolibrary.org/obo/UBERON_0003501 retina blood vessel 'retina blood vessel' SubClassOf 'head blood vessel' http://purl.obolibrary.org/obo/UBERON_0003519 thoracic cavity blood vessel 'thoracic cavity blood vessel' SubClassOf 'blood vessel' http://purl.obolibrary.org/obo/UBERON_0003518 main bronchus blood vessel 'main bronchus blood vessel' SubClassOf 'respiratory system blood vessel' http://purl.obolibrary.org/obo/UBERON_0003515 forelimb blood vessel 'forelimb blood vessel' SubClassOf 'limb blood vessel' 'forelimb blood vessel' SubClassOf 'pectoral appendage blood vessel' http://purl.obolibrary.org/obo/UBERON_0003514 limb blood vessel 'limb blood vessel' SubClassOf 'appendage blood vessel' http://purl.obolibrary.org/obo/UBERON_0003517 kidney blood vessel 'kidney blood vessel' SubClassOf 'abdomen blood vessel' http://purl.obolibrary.org/obo/UBERON_0003516 hindlimb blood vessel 'hindlimb blood vessel' SubClassOf 'limb blood vessel' http://purl.obolibrary.org/obo/UBERON_0003511 iris blood vessel 'iris blood vessel' SubClassOf 'head blood vessel' http://purl.obolibrary.org/obo/UBERON_0003510 eyelid blood vessel 'eyelid blood vessel' SubClassOf 'head blood vessel' http://purl.obolibrary.org/obo/UBERON_0003513 trunk blood vessel 'trunk blood vessel' SubClassOf 'blood vessel' http://purl.obolibrary.org/obo/UBERON_2001012 epaxial region somite 16 'epaxial region somite 16' SubClassOf 'epaxial myotome region' http://purl.obolibrary.org/obo/UBERON_2001001 epaxial region somite 13 'epaxial region somite 13' SubClassOf 'epaxial myotome region' http://purl.obolibrary.org/obo/MONDO_0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 'methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency' SubClassOf 'Methylmalonic acidemia without homocystinuria' http://purl.obolibrary.org/obo/UBERON_2001052 primordial hindbrain channel 'primordial hindbrain channel' SubClassOf 'head blood vessel' 'primordial hindbrain channel' SubClassOf 'craniocervical region vein' http://purl.obolibrary.org/obo/UBERON_0003560 spinal cord arachnoid mater 'spinal cord arachnoid mater' SubClassOf 'arachnoid mater' 'spinal cord arachnoid mater' SubClassOf 'meninx of spinal cord' http://purl.obolibrary.org/obo/UBERON_0003565 hindbrain dura mater 'hindbrain dura mater' SubClassOf 'meninx of hindbrain' 'hindbrain dura mater' SubClassOf 'brain dura mater' http://purl.obolibrary.org/obo/UBERON_0003562 midbrain dura mater 'midbrain dura mater' SubClassOf 'meninx of midbrain' 'midbrain dura mater' SubClassOf 'brain dura mater' http://purl.obolibrary.org/obo/UBERON_0003561 forebrain dura mater 'forebrain dura mater' SubClassOf 'brain dura mater' 'forebrain dura mater' SubClassOf 'forebrain meninges' http://purl.obolibrary.org/obo/UBERON_0003564 diencephalon dura mater 'diencephalon dura mater' SubClassOf 'meninx of diencephalon' 'diencephalon dura mater' SubClassOf 'forebrain dura mater' http://purl.obolibrary.org/obo/UBERON_0003563 telencephalon dura mater 'telencephalon dura mater' SubClassOf 'meninx of telencephalon' 'telencephalon dura mater' SubClassOf 'forebrain dura mater' http://purl.obolibrary.org/obo/UBERON_2001040 epaxial region somite 24 'epaxial region somite 24' SubClassOf 'epaxial myotome region' http://purl.obolibrary.org/obo/MONDO_0009639 mitochondrial myopathy with lactic acidosis 'mitochondrial myopathy with lactic acidosis' SubClassOf 'Mitochondrial myopathy' http://purl.obolibrary.org/obo/MONDO_0009633 microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma 'microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma' SubClassOf 'inherited genetic disease' http://purl.obolibrary.org/obo/UBERON_2001030 epaxial region somite 21 'epaxial region somite 21' SubClassOf 'epaxial myotome region' http://purl.obolibrary.org/obo/UBERON_2001023 epaxial region somite 19 'epaxial region somite 19' SubClassOf 'epaxial myotome region' http://purl.obolibrary.org/obo/MONDO_0009669 Werdnig-Hoffmann disease 'Werdnig-Hoffmann disease' SubClassOf 'Proximal spinal muscular atrophy' http://purl.obolibrary.org/obo/MONDO_0010666 Miles-Carpenter syndrome 'Miles-Carpenter syndrome' SubClassOf 'congenital nervous system disorder' 'Miles-Carpenter syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Miles-Carpenter syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0020014 rare disease with odontological manifestation 'rare disease with odontological manifestation' SubClassOf 'rare odontologic disease' http://purl.obolibrary.org/obo/MONDO_0020013 rare odontologic disease 'rare odontologic disease' SubClassOf 'skeletal system disease' 'rare odontologic disease' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0020012 systemic or rheumatic disease 'systemic or rheumatic disease' SubClassOf 'disease' http://purl.obolibrary.org/obo/MONDO_0020010 infectious disease of the nervous system 'infectious disease of the nervous system' SubClassOf 'has modifier' some 'rare' 'infectious disease of the nervous system' SubClassOf 'infectious disease' 'infectious disease of the nervous system' SubClassOf 'nervous system disease' http://purl.obolibrary.org/obo/MONDO_0020018 cranial malformation 'cranial malformation' SubClassOf 'developmental defect during embryogenesis' http://purl.obolibrary.org/obo/MONDO_0020016 rare neurologic disease with psychiatric involvement 'rare neurologic disease with psychiatric involvement' SubClassOf 'has modifier' some 'rare' 'rare neurologic disease with psychiatric involvement' SubClassOf 'nervous system disease' http://purl.obolibrary.org/obo/MONDO_0019013 non-histaminic angioedema 'non-histaminic angioedema' SubClassOf 'has modifier' some 'rare' 'non-histaminic angioedema' SubClassOf 'systemic or rheumatic disease' 'non-histaminic angioedema' SubClassOf 'angioedema' 'non-histaminic angioedema' SubClassOf 'allergic urticaria' http://purl.obolibrary.org/obo/MONDO_0020001 respiratory or thoracic malformation 'respiratory or thoracic malformation' SubClassOf 'has modifier' some 'rare' 'respiratory or thoracic malformation' SubClassOf 'respiratory system disease' http://purl.obolibrary.org/obo/MONDO_0007052 growth hormone secreting pituitary adenoma 1 'growth hormone secreting pituitary adenoma 1' SubClassOf 'Growth Hormone-Producing Pituitary Gland Adenoma' http://purl.obolibrary.org/obo/MONDO_0020006 rare hematologic disease 'rare hematologic disease' SubClassOf 'has modifier' some 'rare' 'rare hematologic disease' SubClassOf 'hematologic disease' http://purl.obolibrary.org/obo/MONDO_0019042 multiple congenital anomalies/dysmorphic syndrome 'multiple congenital anomalies/dysmorphic syndrome' SubClassOf 'developmental defect during embryogenesis' http://purl.obolibrary.org/obo/MONDO_0020035 rare otorhinolaryngologic tumor 'rare otorhinolaryngologic tumor' SubClassOf 'otorhinolaryngologic disease' 'rare otorhinolaryngologic tumor' SubClassOf 'has modifier' some 'rare' 'rare otorhinolaryngologic tumor' SubClassOf 'head and neck neoplasia' http://purl.obolibrary.org/obo/MONDO_0007056 acroosteolysis 'acroosteolysis' SubClassOf 'Primary osteolysis' http://purl.obolibrary.org/obo/MONDO_0020039 46,XX disorder of sex development induced by androgens excess '46,XX disorder of sex development induced by androgens excess' SubClassOf 'Genetic 46,XX disorder of sex development' '46,XX disorder of sex development induced by androgens excess' SubClassOf 'Genetic disorder of sex development of gynecological interest' http://purl.obolibrary.org/obo/MONDO_0019038 rare maxillo-facial surgical disease 'rare maxillo-facial surgical disease' SubClassOf 'has modifier' some 'has treatment by surgery' 'rare maxillo-facial surgical disease' SubClassOf 'head disease' 'rare maxillo-facial surgical disease' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0019033 primary cutis verticis gyrata 'primary cutis verticis gyrata' SubClassOf 'dermis disease' http://purl.obolibrary.org/obo/MONDO_0019050 inherited hemoglobinopathy 'inherited hemoglobinopathy' SubClassOf 'inherited genetic disease' 'inherited hemoglobinopathy' EquivalentTo 'Hemoglobinopathy' and ('has modifier' some 'inherited') 'inherited hemoglobinopathy' SubClassOf 'Hemoglobinopathy' http://purl.obolibrary.org/obo/MONDO_0022687 cerebellar degeneration 'cerebellar degeneration' SubClassOf 'neurodegenerative disease' 'cerebellar degeneration' SubClassOf 'cerebellar disease' http://purl.obolibrary.org/obo/MONDO_0020022 central nervous system malformation 'central nervous system malformation' SubClassOf 'developmental defect during embryogenesis' 'central nervous system malformation' SubClassOf 'congenital nervous system disorder' 'central nervous system malformation' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0020021 diaphragmatic or abdominal wall malformation 'diaphragmatic or abdominal wall malformation' SubClassOf 'developmental defect during embryogenesis' 'diaphragmatic or abdominal wall malformation' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0019061 rare parathyroid disease and phosphocalcic metabolism anomaly 'rare parathyroid disease and phosphocalcic metabolism anomaly' SubClassOf 'endocrine system disease' 'rare parathyroid disease and phosphocalcic metabolism anomaly' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0019063 vascular anomaly 'vascular anomaly' SubClassOf 'vascular disease' http://purl.obolibrary.org/obo/MONDO_0019072 intrahepatic cholestasis 'intrahepatic cholestasis' SubClassOf 'pregnancy disorder' 'intrahepatic cholestasis' SubClassOf 'has modifier' some 'rare' 'intrahepatic cholestasis' SubClassOf 'cholestasis' http://purl.obolibrary.org/obo/MONDO_0019086 carcinoma of esophagus 'carcinoma of esophagus' SubClassOf 'esophageal cancer' 'carcinoma of esophagus' SubClassOf 'rare gastroesophageal tumor' 'carcinoma of esophagus' SubClassOf 'Digestive System Carcinoma' http://purl.obolibrary.org/obo/MONDO_0020078 acute myeloid leukemia with recurrent genetic anomaly 'acute myeloid leukemia with recurrent genetic anomaly' SubClassOf 'acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0020077 myelodysplastic/myeloproliferative disease 'myelodysplastic/myeloproliferative disease' SubClassOf 'myeloid hemopathy' http://purl.obolibrary.org/obo/MONDO_0020069 chronic encephalitis 'chronic encephalitis' SubClassOf 'encephalitis' 'chronic encephalitis' SubClassOf 'infectious encephalitis' http://purl.obolibrary.org/obo/MONDO_0044014 postpartum thyroiditis 'postpartum thyroiditis' SubClassOf 'puerperal disorder' 'postpartum thyroiditis' SubClassOf 'autoimmune thyroid disease' 'postpartum thyroiditis' SubClassOf 'autoimmune disease of urogenital tract' 'postpartum thyroiditis' EquivalentTo 'thyroiditis (disease)' and 'puerperal disorder' http://purl.obolibrary.org/obo/MONDO_0020068 postinfectious encephalitis 'postinfectious encephalitis' EquivalentTo 'encephalitis' and ('disease arises from feature' some 'infectious disease') 'postinfectious encephalitis' SubClassOf 'post-infectious disorder' 'postinfectious encephalitis' SubClassOf 'encephalitis' 'postinfectious encephalitis' SubClassOf 'infectious encephalitis' http://purl.obolibrary.org/obo/MONDO_0020067 infectious encephalitis 'infectious encephalitis' SubClassOf 'encephalitis' 'infectious encephalitis' SubClassOf 'central nervous system infection' 'infectious encephalitis' EquivalentTo 'encephalitis' and 'infectious disease' 'infectious encephalitis' SubClassOf 'brain inflammatory disease' 'infectious encephalitis' SubClassOf 'acute disease' http://purl.obolibrary.org/obo/MONDO_0020091 male infertility due to obstructive azoospermia 'male infertility due to obstructive azoospermia' SubClassOf 'male infertility' 'male infertility due to obstructive azoospermia' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/UBERON_6005177 chaeta 'chaeta' SubClassOf 'eo-type sensillum' http://purl.obolibrary.org/obo/MONDO_0019098 autoimmune thrombocytopenia 'autoimmune thrombocytopenia' SubClassOf 'hemorrhagic disorder due to an acquired platelet anomaly' 'autoimmune thrombocytopenia' SubClassOf 'type II hypersensitivity reaction disease' 'autoimmune thrombocytopenia' SubClassOf 'blood platelet disease' http://purl.obolibrary.org/obo/MONDO_0020082 dendritic cell tumor 'dendritic cell tumor' SubClassOf 'Histiocytic and Dendritic Cell Neoplasm' http://purl.obolibrary.org/obo/MONDO_0020089 acquired lipodystrophy 'acquired lipodystrophy' EquivalentTo 'lipodystrophy' and ('has modifier' some 'acquired') 'acquired lipodystrophy' SubClassOf 'lipodystrophy' 'acquired lipodystrophy' SubClassOf 'acquired metabolic disease' http://purl.obolibrary.org/obo/UBERON_0003409 gland of tongue 'gland of tongue' SubClassOf 'oral gland' http://purl.obolibrary.org/obo/UBERON_0003408 gland of digestive tract 'gland of digestive tract' SubClassOf 'gland' http://purl.obolibrary.org/obo/UBERON_0003405 lobar bronchus of left lung 'lobar bronchus of left lung' SubClassOf 'lobar bronchus' http://purl.obolibrary.org/obo/UBERON_0003404 lobar bronchus of right lung 'lobar bronchus of right lung' SubClassOf 'lobar bronchus' http://purl.obolibrary.org/obo/UBERON_0003407 cartilage of nasal septum 'cartilage of nasal septum' SubClassOf 'cartilage element of chondrocranium' http://purl.obolibrary.org/obo/UBERON_0003403 skin of forearm 'skin of forearm' SubClassOf 'arm skin' http://purl.obolibrary.org/obo/UBERON_0003419 mesenchyme of parotid 'mesenchyme of parotid' SubClassOf 'facial mesenchyme' 'mesenchyme of parotid' SubClassOf 'mesenchyme of lower jaw' http://purl.obolibrary.org/obo/UBERON_0003416 mesenchyme of tongue 'mesenchyme of tongue' SubClassOf 'head mesenchyme' http://purl.obolibrary.org/obo/UBERON_0003415 mesenchyme of nasal septum 'mesenchyme of nasal septum' SubClassOf 'facial mesenchyme' http://purl.obolibrary.org/obo/UBERON_0003418 mesenchyme of submandibular gland 'mesenchyme of submandibular gland' SubClassOf 'mesenchyme of lower jaw' http://purl.obolibrary.org/obo/UBERON_0003417 mesenchyme of soft palate 'mesenchyme of soft palate' SubClassOf 'mesenchyme of upper jaw' http://purl.obolibrary.org/obo/UBERON_0003414 mesenchyme of mandible 'mesenchyme of mandible' SubClassOf 'mesenchyme from rhombencephalic neural crest' 'mesenchyme of mandible' SubClassOf 'mesenchyme of lower jaw' 'mesenchyme of mandible' SubClassOf 'facial mesenchyme' http://purl.obolibrary.org/obo/UBERON_0003410 oropharyngeal gland 'oropharyngeal gland' SubClassOf 'pharyngeal gland' http://purl.obolibrary.org/obo/UBERON_0003427 abdominal fat pad 'abdominal fat pad' SubClassOf 'adipose tissue of abdominal region' 'abdominal fat pad' SubClassOf 'fat pad' http://purl.obolibrary.org/obo/UBERON_0003426 dermis adipose tissue 'dermis adipose tissue' SubClassOf 'adipose tissue' http://purl.obolibrary.org/obo/UBERON_0003429 abdomen nerve 'abdomen nerve' SubClassOf 'nerve of abdominal segment' http://purl.obolibrary.org/obo/UBERON_0003428 gonadal fat pad 'gonadal fat pad' SubClassOf 'fat pad' http://purl.obolibrary.org/obo/UBERON_0003422 mesenchyme of umbilical cord 'mesenchyme of umbilical cord' SubClassOf 'extraembryonic tissue' http://purl.obolibrary.org/obo/UBERON_0003425 renal lymph node 'renal lymph node' SubClassOf 'lymph node' http://purl.obolibrary.org/obo/UBERON_0003424 mesenchyme of hard palate 'mesenchyme of hard palate' SubClassOf 'mesenchyme of upper jaw' http://purl.obolibrary.org/obo/UBERON_0003421 mesenchyme of vomeronasal organ 'mesenchyme of vomeronasal organ' SubClassOf 'facial mesenchyme' 'mesenchyme of vomeronasal organ' SubClassOf 'mesenchyme derived from head neural crest' http://purl.obolibrary.org/obo/UBERON_0003420 mesenchyme of sublingual gland 'mesenchyme of sublingual gland' SubClassOf 'head mesenchyme' http://purl.obolibrary.org/obo/UBERON_0003438 iris nerve 'iris nerve' SubClassOf 'nerve' http://purl.obolibrary.org/obo/UBERON_0003437 eyelid nerve 'eyelid nerve' SubClassOf 'nerve' http://purl.obolibrary.org/obo/UBERON_0003439 nerve of trunk region 'nerve of trunk region' SubClassOf 'nerve' http://purl.obolibrary.org/obo/UBERON_0003434 wrist nerve 'wrist nerve' SubClassOf 'manus nerve' http://purl.obolibrary.org/obo/UBERON_0003433 arm nerve 'arm nerve' SubClassOf 'forelimb nerve' http://purl.obolibrary.org/obo/UBERON_0003436 shoulder nerve 'shoulder nerve' SubClassOf 'nerve' http://purl.obolibrary.org/obo/UBERON_0003435 pedal digit nerve 'pedal digit nerve' SubClassOf 'pes nerve' http://purl.obolibrary.org/obo/UBERON_0003430 neck nerve 'neck nerve' SubClassOf 'nerve' http://purl.obolibrary.org/obo/UBERON_0003432 chest nerve 'chest nerve' SubClassOf 'nerve of thoracic segment' http://purl.obolibrary.org/obo/UBERON_0003431 leg nerve 'leg nerve' SubClassOf 'hindlimb nerve' http://purl.obolibrary.org/obo/UBERON_0015472 tracheobronchial lymph node 'tracheobronchial lymph node' SubClassOf 'lymph node' http://purl.obolibrary.org/obo/UBERON_0015479 scrotum skin 'scrotum skin' SubClassOf 'zone of skin' http://purl.obolibrary.org/obo/UBERON_0015474 axilla skin 'axilla skin' SubClassOf 'zone of skin' http://purl.obolibrary.org/obo/UBERON_0015476 nose skin 'nose skin' SubClassOf 'skin of face' http://purl.obolibrary.org/obo/UBERON_0015477 axillary fat pad 'axillary fat pad' SubClassOf 'fat pad' http://purl.obolibrary.org/obo/UBERON_0003481 tail vein 'tail vein' SubClassOf 'tail blood vessel' 'tail vein' SubClassOf 'vein' http://purl.obolibrary.org/obo/UBERON_0003480 vein of clitoris 'vein of clitoris' SubClassOf 'vein' http://purl.obolibrary.org/obo/UBERON_0003483 thymus lymphoid tissue 'thymus lymphoid tissue' SubClassOf 'lymphoid tissue' http://purl.obolibrary.org/obo/UBERON_0003482 vein of trabecular bone 'vein of trabecular bone' SubClassOf 'vein' http://purl.obolibrary.org/obo/UBERON_0003489 respiratory system capillary endothelium 'respiratory system capillary endothelium' SubClassOf 'endothelium of capillary' 'respiratory system capillary endothelium' SubClassOf 'respiratory system blood vessel endothelium' http://purl.obolibrary.org/obo/UBERON_0003488 abdominal mammary gland 'abdominal mammary gland' SubClassOf 'mammary gland' http://purl.obolibrary.org/obo/UBERON_0003485 vagina sebaceous gland 'vagina sebaceous gland' SubClassOf 'sebaceous gland' 'vagina sebaceous gland' SubClassOf 'female reproductive gland' http://purl.obolibrary.org/obo/UBERON_0003484 eye sebaceous gland 'eye sebaceous gland' SubClassOf 'eye skin gland' 'eye sebaceous gland' SubClassOf 'skin sebaceous gland' http://purl.obolibrary.org/obo/UBERON_0003487 skin sebaceous gland 'skin sebaceous gland' SubClassOf 'sebaceous gland' http://purl.obolibrary.org/obo/UBERON_0015469 splenic lymph node 'splenic lymph node' SubClassOf 'lymph node' http://purl.obolibrary.org/obo/UBERON_0003494 respiratory system venule 'respiratory system venule' SubClassOf 'venule' 'respiratory system venule' SubClassOf 'respiratory system blood vessel' http://purl.obolibrary.org/obo/UBERON_0003496 head blood vessel 'head blood vessel' SubClassOf 'blood vessel' http://purl.obolibrary.org/obo/UBERON_0003495 respiratory system arteriole 'respiratory system arteriole' SubClassOf 'respiratory system arterial blood vessel' 'respiratory system arteriole' SubClassOf 'arteriole' http://purl.obolibrary.org/obo/UBERON_0003498 heart blood vessel 'heart blood vessel' SubClassOf 'thoracic segment blood vessel' 'heart blood vessel' SubClassOf 'coronary vessel' http://purl.obolibrary.org/obo/UBERON_0003497 abdomen blood vessel 'abdomen blood vessel' SubClassOf 'abdominal segment blood vessel' http://purl.obolibrary.org/obo/UBERON_0015481 left hepatic artery 'left hepatic artery' SubClassOf 'liver blood vessel' 'left hepatic artery' SubClassOf 'hepatic artery' http://purl.obolibrary.org/obo/UBERON_0015482 right hepatic artery 'right hepatic artery' SubClassOf 'hepatic artery' 'right hepatic artery' SubClassOf 'liver blood vessel' http://purl.obolibrary.org/obo/UBERON_0015484 epidermis of metapodial pad 'epidermis of metapodial pad' SubClassOf 'skin epithelium' 'epidermis of metapodial pad' SubClassOf 'limb epidermis' http://purl.obolibrary.org/obo/UBERON_0015480 proper hepatic artery 'proper hepatic artery' SubClassOf 'systemic artery' 'proper hepatic artery' SubClassOf 'hepatic artery' http://purl.obolibrary.org/obo/UBERON_0015488 sural nerve 'sural nerve' SubClassOf 'leg nerve' http://purl.obolibrary.org/obo/UBERON_0003449 tail intervertebral disc 'tail intervertebral disc' SubClassOf 'intervertebral disk' http://purl.obolibrary.org/obo/UBERON_0003448 manus nerve 'manus nerve' SubClassOf 'forelimb nerve' http://purl.obolibrary.org/obo/UBERON_0003445 pes nerve 'pes nerve' SubClassOf 'hindlimb nerve' http://purl.obolibrary.org/obo/UBERON_0003444 pelvis nerve 'pelvis nerve' SubClassOf 'nerve of abdominal segment' http://purl.obolibrary.org/obo/UBERON_0003447 digit nerve of manus 'digit nerve of manus' SubClassOf 'manus nerve' http://purl.obolibrary.org/obo/UBERON_0003446 ankle nerve 'ankle nerve' SubClassOf 'pes nerve' http://purl.obolibrary.org/obo/UBERON_0003441 forelimb nerve 'forelimb nerve' SubClassOf 'limb nerve' http://purl.obolibrary.org/obo/UBERON_0003440 limb nerve 'limb nerve' SubClassOf 'nerve' http://purl.obolibrary.org/obo/UBERON_0003443 thoracic cavity nerve 'thoracic cavity nerve' SubClassOf 'nerve' http://purl.obolibrary.org/obo/UBERON_0003442 hindlimb nerve 'hindlimb nerve' SubClassOf 'limb nerve' http://purl.obolibrary.org/obo/UBERON_0003459 chest bone 'chest bone' SubClassOf 'thoracic segment bone' http://purl.obolibrary.org/obo/UBERON_0003450 upper jaw incisor 'upper jaw incisor' SubClassOf 'premaxillary tooth' 'upper jaw incisor' SubClassOf 'incisor tooth' http://purl.obolibrary.org/obo/UBERON_0003456 respiratory system lymphatic vessel 'respiratory system lymphatic vessel' SubClassOf 'lymphatic vessel' http://purl.obolibrary.org/obo/UBERON_0003455 inner renal medulla loop of Henle 'inner renal medulla loop of Henle' SubClassOf 'renal medulla loop of Henle' http://purl.obolibrary.org/obo/UBERON_0003458 neck bone 'neck bone' SubClassOf 'bone of craniocervical region' http://purl.obolibrary.org/obo/UBERON_0003457 head bone 'head bone' SubClassOf 'bone of craniocervical region' http://purl.obolibrary.org/obo/UBERON_0003451 lower jaw incisor 'lower jaw incisor' SubClassOf 'incisor tooth' 'lower jaw incisor' SubClassOf 'tooth of lower jaw' http://purl.obolibrary.org/obo/UBERON_0003454 small intestine Peyer's patch 'small intestine Peyer's patch' SubClassOf 'Peyer's patch' http://purl.obolibrary.org/obo/UBERON_0003453 large intestine Peyer's patch 'large intestine Peyer's patch' SubClassOf 'Peyer's patch' http://purl.obolibrary.org/obo/UBERON_0015458 mediastinal fat pad 'mediastinal fat pad' SubClassOf 'fat pad' http://purl.obolibrary.org/obo/UBERON_0015453 subcutaneous lymph node 'subcutaneous lymph node' SubClassOf 'lymph node' http://purl.obolibrary.org/obo/UBERON_0015454 pancreatic fat pad 'pancreatic fat pad' SubClassOf 'fat pad' http://purl.obolibrary.org/obo/UBERON_0015455 accessory hepatic vein 'accessory hepatic vein' SubClassOf 'hepatic vein' http://purl.obolibrary.org/obo/UBERON_0003461 shoulder bone 'shoulder bone' SubClassOf 'bone of pectoral complex' http://purl.obolibrary.org/obo/UBERON_0003460 arm bone 'arm bone' SubClassOf 'forelimb bone' http://purl.obolibrary.org/obo/UBERON_0003467 sesamoid bone of gastrocnemius 'sesamoid bone of gastrocnemius' SubClassOf 'hindlimb zeugopod bone' 'sesamoid bone of gastrocnemius' SubClassOf 'sesamoid bone' http://purl.obolibrary.org/obo/UBERON_0003466 forelimb zeugopod bone 'forelimb zeugopod bone' SubClassOf 'arm bone' http://purl.obolibrary.org/obo/UBERON_0003469 respiratory system artery 'respiratory system artery' SubClassOf 'artery' 'respiratory system artery' SubClassOf 'respiratory system arterial blood vessel' http://purl.obolibrary.org/obo/UBERON_0003468 ureteric segment of renal artery 'ureteric segment of renal artery' SubClassOf 'systemic artery' http://purl.obolibrary.org/obo/UBERON_0003463 trunk bone 'trunk bone' SubClassOf 'bone' http://purl.obolibrary.org/obo/UBERON_0003462 facial bone 'facial bone' SubClassOf 'head bone' http://purl.obolibrary.org/obo/UBERON_0003470 artery of upper lip 'artery of upper lip' SubClassOf 'artery of lip' 'artery of upper lip' SubClassOf 'head blood vessel' 'artery of upper lip' SubClassOf 'systemic artery' http://purl.obolibrary.org/obo/UBERON_0003472 cerebellar artery 'cerebellar artery' SubClassOf 'head blood vessel' 'cerebellar artery' SubClassOf 'artery' http://purl.obolibrary.org/obo/UBERON_0003471 artery of lower lip 'artery of lower lip' SubClassOf 'head blood vessel' 'artery of lower lip' SubClassOf 'systemic artery' 'artery of lower lip' SubClassOf 'artery of lip' http://purl.obolibrary.org/obo/UBERON_0003478 vein of lower lip 'vein of lower lip' SubClassOf 'vein of lip' http://purl.obolibrary.org/obo/UBERON_0003477 vein of upper lip 'vein of upper lip' SubClassOf 'vein of lip' http://purl.obolibrary.org/obo/UBERON_0003479 thoracic cavity vein 'thoracic cavity vein' SubClassOf 'thoracic cavity blood vessel' 'thoracic cavity vein' SubClassOf 'vein' http://purl.obolibrary.org/obo/UBERON_0003474 meningeal artery 'meningeal artery' SubClassOf 'artery' http://purl.obolibrary.org/obo/UBERON_0003473 thoracic cavity artery 'thoracic cavity artery' SubClassOf 'thoracic cavity blood vessel' 'thoracic cavity artery' SubClassOf 'artery' http://purl.obolibrary.org/obo/UBERON_0003476 respiratory system venous blood vessel 'respiratory system venous blood vessel' SubClassOf 'vein' http://purl.obolibrary.org/obo/UBERON_0003475 ureteric vein 'ureteric vein' SubClassOf 'pelvis blood vessel' 'ureteric vein' SubClassOf 'vein' http://purl.obolibrary.org/obo/MONDO_0022519 autoimmune myocarditis 'autoimmune myocarditis' SubClassOf 'autoimmune cardiomyopathy' 'autoimmune myocarditis' SubClassOf 'myocarditis' http://purl.obolibrary.org/obo/MONDO_0010542 dilated cardiomyopathy 3B 'dilated cardiomyopathy 3B' SubClassOf 'Familial isolated dilated cardiomyopathy' http://purl.obolibrary.org/obo/HP_0030775 Modic type vertebral endplate changes 'Modic type vertebral endplate changes' SubClassOf 'abnormality of the skeletal system' http://purl.obolibrary.org/obo/MONDO_0009576 megalocornea (disease) 'megalocornea (disease)' SubClassOf 'Rare genetic neurological disorder' 'megalocornea (disease)' SubClassOf 'corneal disease' http://purl.obolibrary.org/obo/MONDO_0010584 dyskeratosis congenita, X-linked 'dyskeratosis congenita, X-linked' SubClassOf 'Dyskeratosis congenita' http://purl.obolibrary.org/obo/UBERON_0001589 internal thoracic vein 'internal thoracic vein' SubClassOf 'thoracic vein' http://purl.obolibrary.org/obo/UBERON_0001580 levator labii superioris 'levator labii superioris' SubClassOf 'facial muscle' http://purl.obolibrary.org/obo/UBERON_0001585 anterior vena cava 'posterior vena cava' DisjointWith 'anterior vena cava' 'anterior vena cava' SubClassOf 'vena cava' http://purl.obolibrary.org/obo/UBERON_0001586 internal jugular vein 'internal jugular vein' SubClassOf 'jugular vein' http://purl.obolibrary.org/obo/UBERON_0001587 subclavian vein 'subclavian vein' SubClassOf 'vein' http://purl.obolibrary.org/obo/UBERON_0001588 vertebral vein 'vertebral vein' SubClassOf 'vein' http://purl.obolibrary.org/obo/UBERON_0001581 depressor labii inferioris 'depressor labii inferioris' SubClassOf 'facial muscle' http://purl.obolibrary.org/obo/UBERON_0001582 buccinator muscle 'buccinator muscle' SubClassOf 'facial muscle' http://purl.obolibrary.org/obo/UBERON_0001584 left subclavian artery 'left subclavian artery' SubClassOf 'subclavian artery' http://purl.obolibrary.org/obo/UBERON_0001590 pericardiacophrenic vein 'pericardiacophrenic vein' SubClassOf 'vein' http://purl.obolibrary.org/obo/UBERON_0001591 thymic vein 'thymic vein' SubClassOf 'vein' http://purl.obolibrary.org/obo/UBERON_0001598 temporalis muscle 'temporalis muscle' SubClassOf 'masticatory muscle' http://purl.obolibrary.org/obo/UBERON_0001599 stapedius muscle 'stapedius muscle' SubClassOf 'facial muscle' 'stapedius muscle' SubClassOf 'muscle of auditory ossicle' http://purl.obolibrary.org/obo/UBERON_0001592 bronchial vein 'bronchial vein' SubClassOf 'vein' http://purl.obolibrary.org/obo/UBERON_0001593 venous plexus 'venous plexus' SubClassOf 'blood vasculature' 'venous plexus' SubClassOf 'vascular plexus' http://purl.obolibrary.org/obo/UBERON_0001594 azygos vein 'azygos vein' SubClassOf 'vein' http://purl.obolibrary.org/obo/UBERON_0013581 metapodium bone 1 'metapodium bone 1' SubClassOf 'metapodium bone' http://purl.obolibrary.org/obo/UBERON_0013585 metapodium bone 5 'metapodium bone 5' SubClassOf 'metapodium bone' http://purl.obolibrary.org/obo/UBERON_0013584 metapodium bone 4 'metapodium bone 4' SubClassOf 'metapodium bone' http://purl.obolibrary.org/obo/UBERON_0013583 metapodium bone 3 'metapodium bone 3' SubClassOf 'metapodium bone' http://purl.obolibrary.org/obo/UBERON_0013582 metapodium bone 2 'metapodium bone 2' SubClassOf 'metapodium bone' http://purl.obolibrary.org/obo/UBERON_0013588 fused metatarsal bones 3 and 4 'fused metatarsal bones 3 and 4' SubClassOf 'metatarsal bone' 'fused metatarsal bones 3 and 4' SubClassOf 'fused metapodial bones 3 and 4' http://purl.obolibrary.org/obo/UBERON_0013587 fused metacarpal bones 3 and 4 'fused metacarpal bones 3 and 4' SubClassOf 'fused metapodial bones 3 and 4' 'fused metacarpal bones 3 and 4' SubClassOf 'metacarpal bone' http://purl.obolibrary.org/obo/UBERON_0013586 fused metapodial bones 3 and 4 'fused metapodial bones 3 and 4' SubClassOf 'metapodium bone' http://purl.obolibrary.org/obo/UBERON_0001549 dorsal metatarsal vein 'dorsal metatarsal vein' SubClassOf 'vein' http://purl.obolibrary.org/obo/UBERON_0001545 anterior tibial vein 'anterior tibial vein' SubClassOf 'tibial vein' 'anterior tibial vein' DisjointWith 'posterior tibial vein' http://purl.obolibrary.org/obo/UBERON_0001546 posterior tibial vein 'posterior tibial vein' SubClassOf 'tibial vein' 'anterior tibial vein' DisjointWith 'posterior tibial vein' http://purl.obolibrary.org/obo/UBERON_0001547 small saphenous vein 'small saphenous vein' SubClassOf 'saphenous vein' http://purl.obolibrary.org/obo/UBERON_0001548 lateral marginal vein 'lateral marginal vein' SubClassOf 'lower leg blood vessel' 'lateral marginal vein' DisjointWith 'medial marginal vein' 'lateral marginal vein' SubClassOf 'superficial vein' http://purl.obolibrary.org/obo/UBERON_0001541 medial plantar artery 'medial plantar artery' SubClassOf 'hindlimb blood vessel' 'medial plantar artery' SubClassOf 'systemic artery' http://purl.obolibrary.org/obo/UBERON_0001542 inguinal lymph node 'inguinal lymph node' SubClassOf 'peripheral lymph node' http://purl.obolibrary.org/obo/UBERON_0001543 popliteal lymph node 'popliteal lymph node' SubClassOf 'lymph node of lower limb' 'popliteal lymph node' SubClassOf 'peripheral lymph node' http://purl.obolibrary.org/obo/UBERON_0001544 popliteal vein 'popliteal vein' SubClassOf 'hindlimb blood vessel' 'popliteal vein' SubClassOf 'vein' http://purl.obolibrary.org/obo/UBERON_0013523 lateral vaginal canal 'lateral vaginal canal' SubClassOf 'vagina' http://purl.obolibrary.org/obo/UBERON_0013524 median vaginal canal 'median vaginal canal' SubClassOf 'vagina' http://purl.obolibrary.org/obo/UBERON_0001552 kidney arcuate artery 'kidney arcuate artery' SubClassOf 'artery' 'kidney arcuate artery' SubClassOf 'kidney arterial blood vessel' http://purl.obolibrary.org/obo/UBERON_0001553 medial tarsal artery 'medial tarsal artery' SubClassOf 'pes blood vessel' 'medial tarsal artery' SubClassOf 'artery' http://purl.obolibrary.org/obo/UBERON_0001554 skin of hip 'skin of hip' SubClassOf 'zone of skin' http://purl.obolibrary.org/obo/UBERON_0001550 medial marginal vein 'medial marginal vein' SubClassOf 'lower leg blood vessel' 'lateral marginal vein' DisjointWith 'medial marginal vein' 'medial marginal vein' SubClassOf 'superficial vein' http://purl.obolibrary.org/obo/UBERON_0001551 vein of hindlimb zeugopod 'vein of hindlimb zeugopod' SubClassOf 'vein' 'vein of hindlimb zeugopod' SubClassOf 'lower leg blood vessel' http://purl.obolibrary.org/obo/UBERON_0001568 muscle of larynx 'muscle of larynx' SubClassOf 'muscle of neck' http://purl.obolibrary.org/obo/UBERON_0001569 constrictor muscle of pharynx 'constrictor muscle of pharynx' SubClassOf 'branchial muscle' http://purl.obolibrary.org/obo/UBERON_0001563 longus capitis muscle 'longus capitis muscle' SubClassOf 'prevertebral muscle' http://purl.obolibrary.org/obo/UBERON_0001564 mylohyoid muscle 'mylohyoid muscle' SubClassOf 'suprahyoid muscle' http://purl.obolibrary.org/obo/UBERON_0001565 geniohyoid muscle 'geniohyoid muscle' SubClassOf 'suprahyoid muscle' 'geniohyoid muscle' SubClassOf 'jaw depressor muscle' http://purl.obolibrary.org/obo/UBERON_0001566 cricothyroid muscle 'cricothyroid muscle' SubClassOf 'laryngeal intrinsic muscle' http://purl.obolibrary.org/obo/UBERON_0001561 subcostal artery 'subcostal artery' SubClassOf 'systemic artery' http://purl.obolibrary.org/obo/UBERON_0001562 digastric muscle group 'digastric muscle group' SubClassOf 'suprahyoid muscle' http://purl.obolibrary.org/obo/UBERON_0001579 olfactory nerve 'olfactory nerve' SubClassOf 'cranial nerve' http://purl.obolibrary.org/obo/UBERON_0001574 palatoglossus muscle 'palatoglossus muscle' SubClassOf 'palatal muscle' 'palatoglossus muscle' SubClassOf 'tongue muscle' http://purl.obolibrary.org/obo/UBERON_0001575 extrinsic muscle of tongue 'extrinsic muscle of tongue' SubClassOf 'tongue muscle' http://purl.obolibrary.org/obo/UBERON_0001576 intrinsic muscle of tongue 'intrinsic muscle of tongue' SubClassOf 'tongue muscle' http://purl.obolibrary.org/obo/UBERON_0001577 facial muscle 'facial muscle' SubClassOf 'cranial or facial muscle' 'facial muscle' DisjointWith 'masticatory muscle' http://purl.obolibrary.org/obo/UBERON_0001570 inferior pharyngeal constrictor 'inferior pharyngeal constrictor' SubClassOf 'constrictor muscle of pharynx' 'inferior pharyngeal constrictor' SubClassOf 'cricothyroid muscle' http://purl.obolibrary.org/obo/UBERON_0001571 genioglossus muscle 'genioglossus muscle' SubClassOf 'extrinsic muscle of tongue' http://purl.obolibrary.org/obo/UBERON_0001572 hyoglossus muscle 'hyoglossus muscle' SubClassOf 'extrinsic muscle of tongue' http://purl.obolibrary.org/obo/UBERON_0001573 styloglossus 'styloglossus' SubClassOf 'extrinsic muscle of tongue' http://purl.obolibrary.org/obo/UBERON_0025592 glutamatergic system 'glutamatergic system' SubClassOf 'molecular system' http://purl.obolibrary.org/obo/UBERON_0025593 serotonergic system 'serotonergic system' SubClassOf 'molecular system' http://purl.obolibrary.org/obo/UBERON_0025591 gABAergic system 'gABAergic system' SubClassOf 'molecular system' http://purl.obolibrary.org/obo/UBERON_0025595 cholinergic system 'cholinergic system' SubClassOf 'molecular system' http://purl.obolibrary.org/obo/UBERON_0025581 perirhinal cortex of primate of Burwell et al 1995 'perirhinal cortex of primate of Burwell et al 1995' SubClassOf 'perirhinal cortex of Burwell et al 1995' http://purl.obolibrary.org/obo/UBERON_0025584 perirhinal cortex of rodent of Burwell et al 1995 'perirhinal cortex of rodent of Burwell et al 1995' SubClassOf 'perirhinal cortex of Burwell et al 1995' http://purl.obolibrary.org/obo/UBERON_0025589 catecholamine system 'catecholamine system' SubClassOf 'molecular system' http://purl.obolibrary.org/obo/UBERON_0025588 histaminergic system 'histaminergic system' SubClassOf 'molecular system' http://purl.obolibrary.org/obo/UBERON_3001002 basale commune (tarsal) 'basale commune (tarsal)' SubClassOf 'distal tarsal bone' http://purl.obolibrary.org/obo/UBERON_6005805 Bolwig organ 'Bolwig organ' SubClassOf 'internal sensillum' 'Bolwig organ' SubClassOf 'embryonic/larval head sensillum' 'Bolwig organ' SubClassOf 'eye' http://purl.obolibrary.org/obo/UBERON_0001626 left coronary artery 'left coronary artery' SubClassOf 'coronary artery' http://purl.obolibrary.org/obo/UBERON_0001627 middle cerebral artery 'middle cerebral artery' SubClassOf 'head blood vessel' 'middle cerebral artery' SubClassOf 'cerebral artery' http://purl.obolibrary.org/obo/UBERON_0001628 posterior communicating artery 'posterior communicating artery' SubClassOf 'systemic artery' 'posterior communicating artery' SubClassOf 'head blood vessel' 'posterior communicating artery' SubClassOf 'communicating artery' 'posterior communicating artery' DisjointWith 'anterior communicating artery' http://purl.obolibrary.org/obo/UBERON_0001622 lacrimal artery 'lacrimal artery' SubClassOf 'systemic artery' 'lacrimal artery' SubClassOf 'head blood vessel' http://purl.obolibrary.org/obo/UBERON_0001623 dorsal nasal artery 'dorsal nasal artery' SubClassOf 'terminal branch of ophthalmic artery' http://purl.obolibrary.org/obo/UBERON_0001624 anterior cerebral artery 'anterior cerebral artery' SubClassOf 'cerebral artery' 'anterior cerebral artery' DisjointWith 'posterior cerebral artery' 'anterior cerebral artery' SubClassOf 'head blood vessel' http://purl.obolibrary.org/obo/UBERON_0001625 right coronary artery 'right coronary artery' SubClassOf 'coronary artery' http://purl.obolibrary.org/obo/UBERON_0013619 upper secondary molar tooth 'upper secondary molar tooth' SubClassOf 'upper jaw molar' 'upper secondary molar tooth' SubClassOf 'secondary molar tooth' 'upper secondary molar tooth' SubClassOf 'secondary upper tooth' http://purl.obolibrary.org/obo/UBERON_0013618 secondary molar tooth 'secondary molar tooth' SubClassOf 'secondary tooth' 'secondary molar tooth' SubClassOf 'molar tooth' http://purl.obolibrary.org/obo/UBERON_0013617 upper primary molar tooth 'upper primary molar tooth' SubClassOf 'primary upper tooth' 'upper primary molar tooth' SubClassOf 'primary molar tooth' 'upper primary molar tooth' SubClassOf 'upper jaw molar' http://purl.obolibrary.org/obo/UBERON_0013616 primary molar tooth 'primary molar tooth' SubClassOf 'molar tooth' 'primary molar tooth' SubClassOf 'deciduous tooth' http://purl.obolibrary.org/obo/UBERON_0001620 central retinal artery 'central retinal artery' SubClassOf 'retina blood vessel' 'central retinal artery' SubClassOf 'systemic artery' http://purl.obolibrary.org/obo/UBERON_0001639 hepatic portal vein 'hepatic portal vein' SubClassOf 'portal vein' 'hepatic vein' DisjointWith 'hepatic portal vein' http://purl.obolibrary.org/obo/UBERON_0001633 basilar artery 'basilar artery' SubClassOf 'head blood vessel' 'basilar artery' SubClassOf 'branch of vertebral artery' http://purl.obolibrary.org/obo/UBERON_0001634 mesencephalic artery 'mesencephalic artery' SubClassOf 'artery' http://purl.obolibrary.org/obo/UBERON_0001635 superior cerebellar artery 'superior cerebellar artery' SubClassOf 'branch of basilar artery' 'superior cerebellar artery' SubClassOf 'cerebellar artery' http://purl.obolibrary.org/obo/UBERON_0001636 posterior cerebral artery 'posterior cerebral artery' SubClassOf 'cerebral artery' 'posterior cerebral artery' SubClassOf 'branch of basilar artery' 'anterior cerebral artery' DisjointWith 'posterior cerebral artery' http://purl.obolibrary.org/obo/UBERON_0001631 thoracic duct 'thoracic duct' SubClassOf 'lymphatic vessel' http://purl.obolibrary.org/obo/UBERON_0001632 temporal artery 'temporal artery' SubClassOf 'head blood vessel' 'temporal artery' SubClassOf 'artery' http://purl.obolibrary.org/obo/UBERON_0001648 vestibulocochlear nerve 'vestibulocochlear nerve' SubClassOf 'cranial nerve' http://purl.obolibrary.org/obo/UBERON_0001649 glossopharyngeal nerve 'glossopharyngeal nerve' SubClassOf 'cranial nerve' http://purl.obolibrary.org/obo/UBERON_0001644 trochlear nerve 'trochlear nerve' SubClassOf 'cranial nerve' http://purl.obolibrary.org/obo/UBERON_0001646 abducens nerve 'abducens nerve' SubClassOf 'cranial nerve' http://purl.obolibrary.org/obo/UBERON_0001647 facial nerve 'facial nerve' SubClassOf 'cranial nerve' http://purl.obolibrary.org/obo/UBERON_0013630 short bone 'short bone' SubClassOf 'bone' http://purl.obolibrary.org/obo/UBERON_0013636 epithelium of intestinal villus 'epithelium of intestinal villus' SubClassOf 'epithelium of small intestine' http://purl.obolibrary.org/obo/UBERON_0013635 sphincter colli muscle 'sphincter colli muscle' SubClassOf 'muscle of neck' http://purl.obolibrary.org/obo/UBERON_0001640 celiac artery 'splenic artery' DisjointWith 'celiac artery' 'celiac artery' SubClassOf 'abdominal aorta artery' http://purl.obolibrary.org/obo/UBERON_0001641 transverse sinus 'transverse sinus' SubClassOf 'paired venous dural sinus' 'transverse sinus' SubClassOf 'neck blood vessel' http://purl.obolibrary.org/obo/UBERON_0001642 superior sagittal sinus 'superior sagittal sinus' SubClassOf 'sagittal sinus' http://purl.obolibrary.org/obo/UBERON_0001643 oculomotor nerve 'oculomotor nerve' SubClassOf 'cranial nerve' http://purl.obolibrary.org/obo/UBERON_0001659 transverse facial vein 'transverse facial vein' SubClassOf 'head blood vessel' 'transverse facial vein' SubClassOf 'craniocervical region vein' 'transverse facial vein' SubClassOf 'neck blood vessel' http://purl.obolibrary.org/obo/UBERON_0001655 submental vein 'submental vein' SubClassOf 'craniocervical region vein' 'submental vein' SubClassOf 'neck blood vessel' 'submental vein' SubClassOf 'head blood vessel' http://purl.obolibrary.org/obo/UBERON_0001656 retromandibular vein 'retromandibular vein' DisjointWith 'anterior facial vein' 'retromandibular vein' SubClassOf 'facial vein' http://purl.obolibrary.org/obo/UBERON_0001657 superficial temporal vein 'superficial temporal vein' SubClassOf 'temporal vein' 'superficial temporal vein' SubClassOf 'neck blood vessel' http://purl.obolibrary.org/obo/UBERON_0001658 middle temporal vein 'middle temporal vein' SubClassOf 'temporal vein' 'middle temporal vein' SubClassOf 'neck blood vessel' http://purl.obolibrary.org/obo/UBERON_0013622 manual autopod pad 'manual autopod pad' SubClassOf 'autopod pad' 'manual autopod pad' SubClassOf 'skin of manus' http://purl.obolibrary.org/obo/UBERON_0013621 lower secondary molar tooth 'lower secondary molar tooth' SubClassOf 'permanent lower tooth' 'lower secondary molar tooth' SubClassOf 'secondary molar tooth' 'lower secondary molar tooth' SubClassOf 'lower jaw molar' http://purl.obolibrary.org/obo/UBERON_0013620 lower primary molar tooth 'lower primary molar tooth' SubClassOf 'primary molar tooth' 'lower primary molar tooth' SubClassOf 'primary lower tooth' 'lower primary molar tooth' SubClassOf 'lower jaw molar' http://purl.obolibrary.org/obo/UBERON_0013626 medial metatarsal pad 'medial metatarsal pad' SubClassOf 'plantar pad' 'medial metatarsal pad' DisjointWith 'lateral metatarsal pad' http://purl.obolibrary.org/obo/UBERON_0013623 pedal autopod pad 'pedal autopod pad' SubClassOf 'autopod pad' 'pedal autopod pad' SubClassOf 'skin of pes' http://purl.obolibrary.org/obo/UBERON_0013629 hallical pad 'hallical pad' SubClassOf 'digital pad' 'hallical pad' SubClassOf 'pedal autopod pad' 'hallical pad' SubClassOf 'pedal digit skin' http://purl.obolibrary.org/obo/UBERON_0013628 pollical pad 'pollical pad' SubClassOf 'manual digit skin' 'pollical pad' SubClassOf 'manual autopod pad' 'pollical pad' SubClassOf 'digital pad' http://purl.obolibrary.org/obo/UBERON_0013627 lateral metatarsal pad 'lateral metatarsal pad' SubClassOf 'plantar pad' 'medial metatarsal pad' DisjointWith 'lateral metatarsal pad' http://purl.obolibrary.org/obo/UBERON_0001651 right pulmonary artery 'right pulmonary artery' SubClassOf 'artery' http://purl.obolibrary.org/obo/UBERON_0001652 left pulmonary artery 'left pulmonary artery' SubClassOf 'artery' http://purl.obolibrary.org/obo/UBERON_0001653 facial vein 'facial vein' SubClassOf 'craniocervical region vein' 'facial vein' SubClassOf 'head blood vessel' 'facial vein' SubClassOf 'neck blood vessel' http://purl.obolibrary.org/obo/UBERON_0001654 supraorbital vein 'supraorbital vein' SubClassOf 'superior palpebral vein' http://purl.obolibrary.org/obo/UBERON_0001650 hypoglossal nerve 'hypoglossal nerve' SubClassOf 'cranial nerve' http://purl.obolibrary.org/obo/UBERON_0001604 levator palpebrae superioris 'levator palpebrae superioris' SubClassOf 'extra-ocular muscle' http://purl.obolibrary.org/obo/UBERON_0001605 ciliary muscle 'ciliary muscle' SubClassOf 'smooth muscle of eye' http://purl.obolibrary.org/obo/UBERON_0001607 sphincter pupillae 'sphincter pupillae' SubClassOf 'iris smooth muscle' http://purl.obolibrary.org/obo/UBERON_0001600 tensor tympani 'tensor tympani' SubClassOf 'muscle of auditory ossicle' http://purl.obolibrary.org/obo/UBERON_0001602 medial rectus extraocular muscle 'medial rectus extraocular muscle' DisjointWith 'lateral rectus extra-ocular muscle' 'medial rectus extraocular muscle' SubClassOf 'rectus extraocular muscle' http://purl.obolibrary.org/obo/UBERON_0001603 lateral rectus extra-ocular muscle 'medial rectus extraocular muscle' DisjointWith 'lateral rectus extra-ocular muscle' 'lateral rectus extra-ocular muscle' SubClassOf 'rectus extraocular muscle' 'lateral rectus extra-ocular muscle' DisjointWith 'rectus capitis lateralis muscle' http://purl.obolibrary.org/obo/UBERON_0001608 dilatator pupillae 'dilatator pupillae' SubClassOf 'iris smooth muscle' http://purl.obolibrary.org/obo/UBERON_0001615 transverse facial artery 'transverse facial artery' SubClassOf 'masseteric artery' 'transverse facial artery' SubClassOf 'head blood vessel' 'transverse facial artery' SubClassOf 'systemic artery' http://purl.obolibrary.org/obo/UBERON_0001616 maxillary artery 'maxillary artery' SubClassOf 'artery' http://purl.obolibrary.org/obo/UBERON_0001617 mental artery 'mental artery' SubClassOf 'head blood vessel' 'mental artery' SubClassOf 'artery' http://purl.obolibrary.org/obo/UBERON_0001618 buccal artery 'buccal artery' SubClassOf 'artery' http://purl.obolibrary.org/obo/UBERON_0001611 sublingual artery 'sublingual artery' SubClassOf 'head blood vessel' 'sublingual artery' SubClassOf 'systemic artery' http://purl.obolibrary.org/obo/UBERON_0001612 facial artery 'facial artery' SubClassOf 'branch of external carotid artery' http://purl.obolibrary.org/obo/UBERON_0001613 occipital artery 'occipital artery' SubClassOf 'branch of external carotid artery' http://purl.obolibrary.org/obo/UBERON_0001614 superficial temporal artery 'superficial temporal artery' SubClassOf 'branch of external carotid artery' 'superficial temporal artery' SubClassOf 'temporal artery' http://purl.obolibrary.org/obo/UBERON_0001619 ophthalmic artery 'ophthalmic artery' SubClassOf 'head blood vessel' 'ophthalmic artery' SubClassOf 'systemic artery' http://purl.obolibrary.org/obo/UBERON_0001610 lingual artery 'lingual artery' SubClassOf 'branch of external carotid artery' 'lingual artery' SubClassOf 'head blood vessel' http://purl.obolibrary.org/obo/UBERON_0001468 intervertebral joint 'intervertebral joint' SubClassOf 'symphysis' http://purl.obolibrary.org/obo/UBERON_0001469 sternoclavicular joint 'sternoclavicular joint' SubClassOf 'synovial joint of pectoral girdle' http://purl.obolibrary.org/obo/UBERON_0001466 pedal digit 'pedal digit' SubClassOf 'digit' http://purl.obolibrary.org/obo/UBERON_0001463 manual digit 1 'manual digit 1' SubClassOf 'digit 1' 'manual digit 1' SubClassOf 'manual digit 1 or 5' http://purl.obolibrary.org/obo/UBERON_0001479 sesamoid bone 'sesamoid bone' SubClassOf 'short bone' http://purl.obolibrary.org/obo/UBERON_0001470 glenohumeral joint 'glenohumeral joint' SubClassOf 'shoulder joint' 'glenohumeral joint' SubClassOf 'synovial joint of pectoral girdle' 'glenohumeral joint' SubClassOf 'synovial limb joint' http://purl.obolibrary.org/obo/UBERON_0001477 infraspinatus muscle 'infraspinatus muscle' SubClassOf 'muscle of shoulder' 'infraspinatus muscle' SubClassOf 'pectoral complex muscle' 'infraspinatus muscle' SubClassOf 'scapular muscle' http://purl.obolibrary.org/obo/UBERON_0001478 teres major muscle 'teres major muscle' SubClassOf 'teres muscle' http://purl.obolibrary.org/obo/UBERON_0001471 skin of prepuce of penis 'skin of prepuce of penis' SubClassOf 'skin of penis' http://purl.obolibrary.org/obo/UBERON_0001472 vaginal venous plexus 'vaginal venous plexus' SubClassOf 'vasculature of organ' 'vaginal venous plexus' SubClassOf 'venous plexus' http://purl.obolibrary.org/obo/UBERON_0013475 gustatory gland 'gustatory gland' SubClassOf 'saliva-secreting gland' 'gustatory gland' SubClassOf 'gland of tongue' 'gustatory gland' SubClassOf 'serous gland' http://purl.obolibrary.org/obo/UBERON_0013479 lung endothelium 'lung endothelium' SubClassOf 'lung epithelium' 'lung endothelium' SubClassOf 'respiratory system blood vessel endothelium' http://purl.obolibrary.org/obo/UBERON_0013478 cecal tonsil 'cecal tonsil' SubClassOf 'gut-associated lymphoid tissue' http://purl.obolibrary.org/obo/UBERON_0001480 proximal carpal bone 'proximal carpal bone' SubClassOf 'proximal mesopodial bone' 'proximal carpal bone' SubClassOf 'carpal bone' http://purl.obolibrary.org/obo/UBERON_0001481 distal carpal bone 'distal carpal bone' SubClassOf 'carpal bone' 'distal carpal bone' SubClassOf 'distal mesopodial bone' http://purl.obolibrary.org/obo/UBERON_0001486 hip joint 'hip joint' SubClassOf 'synovial joint of pelvic girdle' http://purl.obolibrary.org/obo/UBERON_0001487 pes joint 'pes joint' SubClassOf 'autopod joint' 'pes joint' SubClassOf 'synovial limb joint' 'pes joint' SubClassOf 'hindlimb joint' http://purl.obolibrary.org/obo/UBERON_0001489 manus joint 'manus joint' SubClassOf 'synovial limb joint' 'manus joint' SubClassOf 'autopod joint' 'manus joint' SubClassOf 'forelimb joint' http://purl.obolibrary.org/obo/UBERON_0001482 muscle of shoulder 'muscle of shoulder' SubClassOf 'skeletal muscle organ' http://purl.obolibrary.org/obo/UBERON_0001483 skin of shoulder 'skin of shoulder' SubClassOf 'zone of skin' http://purl.obolibrary.org/obo/UBERON_0001490 elbow joint 'elbow joint' SubClassOf 'synovial limb joint' 'elbow joint' SubClassOf 'forelimb joint' http://purl.obolibrary.org/obo/UBERON_0001491 wrist joint 'wrist joint' SubClassOf 'manus joint' http://purl.obolibrary.org/obo/UBERON_0001492 radial nerve 'radial nerve' SubClassOf 'arm nerve' http://purl.obolibrary.org/obo/UBERON_0001497 muscle of pelvic girdle 'muscle of pelvic girdle' SubClassOf 'pelvic complex muscle' 'muscle of pelvic girdle' SubClassOf 'muscle of pelvis' http://purl.obolibrary.org/obo/UBERON_0001498 muscle of pes 'muscle of pes' SubClassOf 'hindlimb muscle' http://purl.obolibrary.org/obo/UBERON_0001499 muscle of arm 'muscle of arm' SubClassOf 'forelimb muscle' http://purl.obolibrary.org/obo/UBERON_0001493 axillary nerve 'axillary nerve' SubClassOf 'arm nerve' http://purl.obolibrary.org/obo/UBERON_0001494 ulnar nerve 'ulnar nerve' SubClassOf 'arm nerve' http://purl.obolibrary.org/obo/UBERON_0001496 ascending aorta 'ascending aorta' SubClassOf 'thoracic aorta' http://purl.obolibrary.org/obo/UBERON_0001428 intermedium 'intermedium' SubClassOf 'proximal carpal bone' http://purl.obolibrary.org/obo/UBERON_0001429 pisiform 'pisiform' SubClassOf 'proximal carpal bone' 'pisiform' SubClassOf 'sesamoid bone of manus' http://purl.obolibrary.org/obo/UBERON_0001424 ulna 'ulna' SubClassOf 'forelimb long bone' 'ulna' SubClassOf 'forelimb zeugopod bone' http://purl.obolibrary.org/obo/UBERON_0001425 pectoral lymphatic vessel 'pectoral lymphatic vessel' SubClassOf 'lymphatic vessel' http://purl.obolibrary.org/obo/UBERON_0001426 jugular lymphatic vessel 'jugular lymphatic vessel' SubClassOf 'lymphatic vessel' http://purl.obolibrary.org/obo/UBERON_0001427 radiale 'radiale' SubClassOf 'proximal carpal bone' http://purl.obolibrary.org/obo/UBERON_0001420 subscapular vein 'subscapular vein' SubClassOf 'vein' http://purl.obolibrary.org/obo/UBERON_0001422 facial lymphatic vessel 'facial lymphatic vessel' SubClassOf 'lymphatic vessel' http://purl.obolibrary.org/obo/UBERON_0001423 radius bone 'radius bone' SubClassOf 'forelimb long bone' 'radius bone' SubClassOf 'forelimb zeugopod bone' http://purl.obolibrary.org/obo/UBERON_0001435 carpal bone 'carpal bone' DisjointWith 'manual digitopodium bone' 'carpal bone' SubClassOf 'mesopodium bone' 'carpal bone' SubClassOf 'manus bone' http://purl.obolibrary.org/obo/UBERON_0001436 phalanx of manus 'phalanx of manus' SubClassOf 'phalanx' 'phalanx of manus' SubClassOf 'manual digit bone' 'phalanx of manus' SubClassOf 'forelimb long bone' http://purl.obolibrary.org/obo/UBERON_0001431 distal carpal bone 2 'distal carpal bone 2' SubClassOf 'distal carpal bone' http://purl.obolibrary.org/obo/UBERON_0001432 distal carpal bone 3 'distal carpal bone 3' SubClassOf 'distal carpal bone' http://purl.obolibrary.org/obo/UBERON_0001433 distal carpal bone 4 'distal carpal bone 4' SubClassOf 'distal carpal bone' http://purl.obolibrary.org/obo/UBERON_0001430 distal carpal bone 1 'distal carpal bone 1' SubClassOf 'distal carpal bone' http://purl.obolibrary.org/obo/UBERON_0001447 tarsal bone 'tarsal bone' SubClassOf 'pes bone' 'tarsal bone' SubClassOf 'mesopodium bone' 'tarsal bone' DisjointWith 'pedal digitopodium bone' http://purl.obolibrary.org/obo/UBERON_0001448 metatarsal bone 'metatarsal bone' SubClassOf 'hindlimb long bone' 'metatarsal bone' SubClassOf 'pedal digitopodium bone' 'metatarsal bone' SubClassOf 'metapodium bone' http://purl.obolibrary.org/obo/UBERON_0001449 phalanx of pes 'phalanx of pes' SubClassOf 'hindlimb long bone' 'phalanx of pes' SubClassOf 'phalanx' 'phalanx of pes' SubClassOf 'pedal digit bone' http://purl.obolibrary.org/obo/UBERON_0001457 skin of eyelid 'skin of eyelid' SubClassOf 'skin of face' http://purl.obolibrary.org/obo/UBERON_0001458 skin of lip 'skin of lip' SubClassOf 'skin of head' http://purl.obolibrary.org/obo/UBERON_0001459 skin of external ear 'skin of external ear' SubClassOf 'skin of head' http://purl.obolibrary.org/obo/UBERON_0001453 distal tarsal bone 2 'distal tarsal bone 2' SubClassOf 'distal tarsal bone' http://purl.obolibrary.org/obo/UBERON_0001454 distal tarsal bone 3 'distal tarsal bone 3' SubClassOf 'distal tarsal bone' 'distal tarsal bone 1' DisjointWith 'distal tarsal bone 3' http://purl.obolibrary.org/obo/UBERON_0001455 cuboid bone 'cuboid bone' SubClassOf 'distal tarsal bone' http://purl.obolibrary.org/obo/UBERON_0001450 calcaneus 'calcaneus' SubClassOf 'proximal tarsal bone' http://purl.obolibrary.org/obo/UBERON_0001451 navicular bone of pes 'navicular bone of pes' SubClassOf 'tarsal bone' 'navicular bone of pes' SubClassOf 'centrale' http://purl.obolibrary.org/obo/UBERON_0001452 distal tarsal bone 1 'distal tarsal bone 1' SubClassOf 'distal tarsal bone' 'distal tarsal bone 1' DisjointWith 'distal tarsal bone 3' http://purl.obolibrary.org/obo/UBERON_6003218 adult muscle system 'adult muscle system' SubClassOf 'musculature of body' http://purl.obolibrary.org/obo/MONDO_0000904 complex cortical dysplasia with other brain malformations 'complex cortical dysplasia with other brain malformations' SubClassOf 'cerebral malformation due to abnormal neuronal migration' http://purl.obolibrary.org/obo/MONDO_0000919 ampulla of vater cancer 'ampulla of vater cancer' SubClassOf 'rare epithelial tumor of liver and intrahepatic biliary tract' 'ampulla of vater cancer' SubClassOf 'duodenum cancer' 'ampulla of vater cancer' SubClassOf 'ampulla of vater neoplasm' 'ampulla of vater cancer' SubClassOf 'malignant tumor of extrahepatic bile duct' http://purl.obolibrary.org/obo/MONDO_0000916 intestinal infectious disease 'intestinal infectious disease' SubClassOf 'digestive system infectious disease' 'intestinal infectious disease' SubClassOf 'gastroenteritis' http://purl.obolibrary.org/obo/UBERON_0013496 unbarbed keratin-coated spine 'unbarbed keratin-coated spine' SubClassOf 'keratin-coated spine' http://purl.obolibrary.org/obo/UBERON_0013495 barbed keratin-coated spine 'barbed keratin-coated spine' SubClassOf 'keratin-coated spine' http://purl.obolibrary.org/obo/UBERON_0013494 keratin-coated spine 'keratin-coated spine' SubClassOf 'spine appendage' 'keratin-coated spine' SubClassOf 'strand of hair' http://purl.obolibrary.org/obo/UBERON_0013499 glossopharyngeal-vagus IX-X preganglion complex 'glossopharyngeal-vagus IX-X preganglion complex' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0013498 vestibulo-cochlear VIII ganglion complex 'vestibulo-cochlear VIII ganglion complex' SubClassOf 'cranial ganglion' http://purl.obolibrary.org/obo/MONDO_0000921 ampulla of vater neoplasm 'ampulla of vater neoplasm' SubClassOf 'common bile duct neoplasm' 'ampulla of vater neoplasm' SubClassOf 'tumor of duodenum' http://purl.obolibrary.org/obo/MONDO_0000920 duodenum cancer 'duodenum cancer' SubClassOf 'small intestine cancer' 'duodenum cancer' SubClassOf 'tumor of duodenum' http://purl.obolibrary.org/obo/MONDO_0000926 eye accommodation disease 'eye accommodation disease' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/UBERON_0013482 crypt of Lieberkuhn of duodenum 'crypt of Lieberkuhn of duodenum' SubClassOf 'crypt of Lieberkuhn of small intestine' http://purl.obolibrary.org/obo/UBERON_0013481 crypt of Lieberkuhn of ileum 'crypt of Lieberkuhn of ileum' SubClassOf 'crypt of Lieberkuhn of small intestine' http://purl.obolibrary.org/obo/UBERON_0013486 crypt of Lieberkuhn of appendix 'crypt of Lieberkuhn of appendix' SubClassOf 'crypt of Lieberkuhn of colon' http://purl.obolibrary.org/obo/UBERON_0013485 crypt of Lieberkuhn of colon 'crypt of Lieberkuhn of colon' SubClassOf 'crypt of Lieberkuhn of large intestine' http://purl.obolibrary.org/obo/UBERON_0013483 crypt of Lieberkuhn of jejunum 'crypt of Lieberkuhn of jejunum' SubClassOf 'crypt of Lieberkuhn of small intestine' http://purl.obolibrary.org/obo/UBERON_0013488 panniculus adiposus 'panniculus adiposus' SubClassOf 'subcutaneous adipose tissue' http://purl.obolibrary.org/obo/MONDO_0000931 endometrial disease 'endometrial disease' SubClassOf 'uterine disease' http://purl.obolibrary.org/obo/MONDO_0000941 eyelid degenerative disease 'eyelid degenerative disease' SubClassOf 'eyelid disease' 'eyelid degenerative disease' SubClassOf 'eye degenerative disease' http://purl.obolibrary.org/obo/UBERON_6005830 Bolwig organ primordium 'Bolwig organ primordium' SubClassOf 'primordium' 'Bolwig organ primordium' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/MONDO_0000945 venous insufficiency (disease) 'venous insufficiency (disease)' SubClassOf 'vein disease' 'venous insufficiency (disease)' SubClassOf 'vascular insufficiency disorder' http://purl.obolibrary.org/obo/MONDO_0024913 cattle disease 'cattle disease' SubClassOf 'animal disease' http://purl.obolibrary.org/obo/MONDO_0000949 conjunctival degeneration 'conjunctival degeneration' SubClassOf 'Conjunctival Disorder' http://purl.obolibrary.org/obo/MONDO_0000952 cancer of long bone of lower limb 'cancer of long bone of lower limb' SubClassOf 'cancer affecting bone of limb skeleton' http://purl.obolibrary.org/obo/MONDO_0000956 small intestine cancer 'small intestine cancer' SubClassOf 'intestinal cancer' 'small intestine cancer' SubClassOf 'small intestine neoplasm' http://purl.obolibrary.org/obo/MONDO_0000959 malignant hypertensive renal disease 'malignant hypertensive renal disease' SubClassOf 'malignant hypertension' 'malignant hypertensive renal disease' EquivalentTo 'hypertensive renal disease' and 'malignant hypertension' 'malignant hypertensive renal disease' SubClassOf 'hypertensive renal disease' http://purl.obolibrary.org/obo/MONDO_0024934 fish disease 'fish disease' SubClassOf 'animal disease' http://purl.obolibrary.org/obo/MONDO_0010308 thrombocytopenia, X-linked, with or without dyserythropoietic anemia 'thrombocytopenia, X-linked, with or without dyserythropoietic anemia' SubClassOf 'inherited genetic disease' 'thrombocytopenia, X-linked, with or without dyserythropoietic anemia' SubClassOf 'blood platelet disease' http://purl.obolibrary.org/obo/MONDO_0000992 heart conduction disease 'heart conduction disease' SubClassOf 'heart disease' http://purl.obolibrary.org/obo/MONDO_0000995 familial periodic paralysis 'familial periodic paralysis' EquivalentTo 'periodic paralysis (disease)' and ('has modifier' some 'inherited') 'familial periodic paralysis' SubClassOf 'Metabolic myopathy' 'familial periodic paralysis' SubClassOf 'inborn metal metabolism disorder' http://purl.obolibrary.org/obo/MONDO_0009335 hemolytic uremic syndrome, atypical, susceptibility to, 1 'hemolytic uremic syndrome, atypical, susceptibility to, 1' SubClassOf 'predisposes towards' some 'Atypical hemolytic-uremic syndrome' 'hemolytic uremic syndrome, atypical, susceptibility to, 1' SubClassOf 'inherited disease susceptibility' http://purl.obolibrary.org/obo/MONDO_0009332 congenital hematological disorder 'congenital hematological disorder' SubClassOf 'has modifier' some 'congenital' 'congenital hematological disorder' EquivalentTo 'hematologic disease' and ('has modifier' some 'congenital') 'congenital hematological disorder' SubClassOf 'hematologic disease' http://purl.obolibrary.org/obo/MONDO_0009348 classic Hodgkin lymphoma 'classic Hodgkin lymphoma' SubClassOf 'Hodgkins lymphoma' http://purl.obolibrary.org/obo/MONDO_0009346 histidinuria due to a renal tubular defect 'histidinuria due to a renal tubular defect' EquivalentTo 'Histidinemia' and ('disease arises from feature' some 'renal tubule disease') 'histidinuria due to a renal tubular defect' SubClassOf 'Histidinemia' 'histidinuria due to a renal tubular defect' SubClassOf 'disease arises from feature' some 'renal tubule disease' http://purl.obolibrary.org/obo/MONDO_0024969 parasitic disease, non-human animal 'parasitic disease, non-human animal' SubClassOf 'animal disease' 'parasitic disease, non-human animal' SubClassOf 'parasitic infection' http://purl.obolibrary.org/obo/MONDO_0036976 benign epithelial neoplasm 'benign epithelial neoplasm' SubClassOf 'benign neoplasm' 'benign epithelial neoplasm' SubClassOf 'epithelial neoplasm' http://purl.obolibrary.org/obo/UBERON_0001505 coracobrachialis muscle 'coracobrachialis muscle' SubClassOf 'forelimb stylopod muscle' 'coracobrachialis muscle' SubClassOf 'muscle of shoulder' http://purl.obolibrary.org/obo/UBERON_0001506 brachialis muscle 'brachialis muscle' SubClassOf 'muscle of shoulder' 'brachialis muscle' SubClassOf 'muscle of arm' http://purl.obolibrary.org/obo/UBERON_0001508 arch of aorta 'arch of aorta' SubClassOf 'thoracic aorta' http://purl.obolibrary.org/obo/UBERON_0001501 lumbrical muscle of manus 'lumbrical muscle of manus' SubClassOf 'intrinsic muscle of manus' http://purl.obolibrary.org/obo/UBERON_0001502 interosseous muscle of manus 'interosseous muscle of manus' SubClassOf 'interosseous muscle of autopod' 'interosseous muscle of manus' SubClassOf 'intrinsic muscle of manus' http://purl.obolibrary.org/obo/UBERON_0001503 dorsal interosseous of manus 'dorsal interosseous of manus' SubClassOf 'interosseous muscle of manus' http://purl.obolibrary.org/obo/UBERON_0001504 lumbrical muscle of pes 'lumbrical muscle of pes' SubClassOf 'intrinsic muscle of pes' http://purl.obolibrary.org/obo/UBERON_0001509 triceps brachii 'triceps brachii' SubClassOf 'scapular muscle' 'triceps brachii' SubClassOf 'forelimb stylopod muscle' 'triceps brachii' SubClassOf 'muscle of shoulder' http://purl.obolibrary.org/obo/MONDO_0009384 Leydig cell hypoplasia, type 1 'Leydig cell hypoplasia, type 1' SubClassOf 'Leydig cell hypoplasia' http://purl.obolibrary.org/obo/UBERON_0001500 muscle of manus 'muscle of manus' SubClassOf 'forelimb muscle' http://purl.obolibrary.org/obo/UBERON_0001517 skin of elbow 'skin of elbow' SubClassOf 'arm skin' http://purl.obolibrary.org/obo/UBERON_0001518 skin of wrist 'skin of wrist' SubClassOf 'skin of manus' http://purl.obolibrary.org/obo/UBERON_0001519 skin of manus 'skin of manus' SubClassOf 'autopod skin' 'skin of manus' SubClassOf 'forelimb skin' http://purl.obolibrary.org/obo/UBERON_0001512 skin of ankle 'skin of ankle' SubClassOf 'skin of pes' http://purl.obolibrary.org/obo/UBERON_0001513 skin of pes 'skin of pes' SubClassOf 'hindlimb skin' 'skin of pes' SubClassOf 'autopod skin' http://purl.obolibrary.org/obo/UBERON_0001510 skin of knee 'skin of knee' SubClassOf 'skin of leg' http://purl.obolibrary.org/obo/UBERON_0001511 skin of leg 'skin of leg' SubClassOf 'hindlimb skin' http://purl.obolibrary.org/obo/UBERON_0001527 abductor pollicis longus 'abductor pollicis longus' SubClassOf 'abductor pollicis muscle' http://purl.obolibrary.org/obo/UBERON_0001528 radio-ulnar joint 'radio-ulnar joint' SubClassOf 'synovial limb joint' 'radio-ulnar joint' SubClassOf 'forelimb joint' http://purl.obolibrary.org/obo/UBERON_0001523 flexor digitorum profundus 'flexor digitorum profundus' SubClassOf 'forelimb stylopod muscle' 'flexor digitorum profundus' SubClassOf 'flexor muscle' http://purl.obolibrary.org/obo/UBERON_0001524 extensor carpi radialis longus muscle 'extensor carpi radialis longus muscle' SubClassOf 'extensor carpi radialis muscle' http://purl.obolibrary.org/obo/UBERON_0001525 extensor carpi radialis brevis muscle 'extensor carpi radialis brevis muscle' SubClassOf 'extensor carpi radialis muscle' http://purl.obolibrary.org/obo/UBERON_0001526 extensor carpi ulnaris muscle 'extensor carpi ulnaris muscle' SubClassOf 'extrinsic extensor muscle of manus' http://purl.obolibrary.org/obo/UBERON_0013511 ambiens muscle 'ambiens muscle' SubClassOf 'hindlimb muscle' http://purl.obolibrary.org/obo/UBERON_0001520 pronator teres 'pronator teres' SubClassOf 'forelimb muscle' http://purl.obolibrary.org/obo/UBERON_0001521 flexor carpi radialis muscle 'flexor carpi radialis muscle' SubClassOf 'flexor muscle' 'flexor carpi radialis muscle' SubClassOf 'forelimb zeugopod muscle' http://purl.obolibrary.org/obo/UBERON_0001522 flexor carpi ulnaris muscle 'flexor carpi ulnaris muscle' SubClassOf 'forelimb zeugopod muscle' 'flexor carpi ulnaris muscle' SubClassOf 'flexor muscle' http://purl.obolibrary.org/obo/UBERON_0001538 posterior tibial artery 'posterior tibial artery' SubClassOf 'tibial artery' 'anterior tibial artery' DisjointWith 'posterior tibial artery' http://purl.obolibrary.org/obo/UBERON_0001539 dorsalis pedis artery 'dorsalis pedis artery' SubClassOf 'hindlimb blood vessel' 'dorsalis pedis artery' SubClassOf 'systemic artery' http://purl.obolibrary.org/obo/UBERON_0001534 right subclavian artery 'right subclavian artery' SubClassOf 'subclavian artery' http://purl.obolibrary.org/obo/UBERON_0001535 vertebral artery 'vertebral artery' SubClassOf 'spinal artery' http://purl.obolibrary.org/obo/UBERON_0001536 left common carotid artery plus branches 'left common carotid artery plus branches' SubClassOf 'common carotid artery plus branches' http://purl.obolibrary.org/obo/UBERON_0001537 anterior tibial artery 'anterior tibial artery' SubClassOf 'tibial artery' 'anterior tibial artery' DisjointWith 'posterior tibial artery' http://purl.obolibrary.org/obo/UBERON_0013500 glossopharyngeal-vagus IX-X ganglion complex 'glossopharyngeal-vagus IX-X ganglion complex' SubClassOf 'cranial ganglion' http://purl.obolibrary.org/obo/UBERON_0013502 5th arch mesenchyme '5th arch mesenchyme' SubClassOf 'pharyngeal arch mesenchymal region' http://purl.obolibrary.org/obo/UBERON_0001530 common carotid artery plus branches 'common carotid artery plus branches' SubClassOf 'systemic artery' http://purl.obolibrary.org/obo/UBERON_0001531 right common carotid artery plus branches 'right common carotid artery plus branches' SubClassOf 'common carotid artery plus branches' http://purl.obolibrary.org/obo/UBERON_0001533 subclavian artery 'subclavian artery' SubClassOf 'systemic artery' http://purl.obolibrary.org/obo/UBERON_0001344 epithelium of vagina 'epithelium of vagina' SubClassOf 'multilaminar epithelium' 'epithelium of vagina' SubClassOf 'oviduct epithelium' http://purl.obolibrary.org/obo/UBERON_0001340 dorsal artery of penis 'dorsal artery of penis' SubClassOf 'abdominal segment blood vessel' 'dorsal artery of penis' SubClassOf 'systemic artery' http://purl.obolibrary.org/obo/UBERON_0001358 perineal artery 'perineal artery' SubClassOf 'abdominal segment blood vessel' 'perineal artery' SubClassOf 'systemic artery' http://purl.obolibrary.org/obo/UBERON_0001354 inferior epigastric artery 'inferior epigastric artery' SubClassOf 'epigastric artery' 'inferior epigastric artery' SubClassOf 'systemic artery' http://purl.obolibrary.org/obo/UBERON_0001355 deep femoral artery 'deep femoral artery' SubClassOf 'systemic artery' http://purl.obolibrary.org/obo/UBERON_0001356 medial circumflex femoral artery 'medial circumflex femoral artery' SubClassOf 'systemic artery' http://purl.obolibrary.org/obo/UBERON_0001357 inferior rectal artery 'inferior rectal artery' SubClassOf 'rectal artery' 'inferior rectal artery' SubClassOf 'abdominal segment blood vessel' http://purl.obolibrary.org/obo/UBERON_0001350 coccyx 'coccyx' SubClassOf 'irregular bone' 'coccyx' SubClassOf 'bone of dorsum' http://purl.obolibrary.org/obo/UBERON_0001369 iliacus muscle 'iliacus muscle' SubClassOf 'muscle of pelvic girdle' http://purl.obolibrary.org/obo/UBERON_0001360 deep circumflex iliac vein 'deep circumflex iliac vein' SubClassOf 'deep vein' http://purl.obolibrary.org/obo/UBERON_0001365 sacro-iliac joint 'sacro-iliac joint' SubClassOf 'synovial joint of pelvic girdle' http://purl.obolibrary.org/obo/UBERON_0001367 external anal sphincter 'external anal sphincter' SubClassOf 'skeletal muscle tissue of trunk' 'external anal sphincter' SubClassOf 'anal region skeletal muscle' http://purl.obolibrary.org/obo/UBERON_0001368 obturator externus 'obturator externus' SubClassOf 'obturator muscle' 'obturator externus' SubClassOf 'adductor muscle of hip' http://purl.obolibrary.org/obo/UBERON_0001361 femoral vein 'femoral vein' SubClassOf 'vein' 'femoral vein' SubClassOf 'hindlimb blood vessel' http://purl.obolibrary.org/obo/UBERON_0001362 perineal vein 'perineal vein' SubClassOf 'vein' http://purl.obolibrary.org/obo/UBERON_0001363 great saphenous vein 'great saphenous vein' SubClassOf 'saphenous vein' http://purl.obolibrary.org/obo/UBERON_0001370 gluteus maximus 'gluteus maximus' SubClassOf 'gluteal muscle' 'gluteus maximus' SubClassOf 'axial muscle' 'gluteus maximus' SubClassOf 'iliofemoralis muscle' http://purl.obolibrary.org/obo/UBERON_0001371 gluteus medius 'gluteus medius' SubClassOf 'gluteal muscle' http://purl.obolibrary.org/obo/UBERON_0001376 tensor fasciae latae muscle 'tensor fasciae latae muscle' SubClassOf 'gluteal muscle' http://purl.obolibrary.org/obo/UBERON_0001378 rectus femoris 'rectus femoris' SubClassOf 'quadriceps femoris' http://purl.obolibrary.org/obo/UBERON_0001372 psoas minor muscle 'psoas minor muscle' SubClassOf 'psoas muscle' http://purl.obolibrary.org/obo/UBERON_0001375 semitendinosus 'semitendinosus' SubClassOf 'muscle of posterior compartment of hindlimb stylopod' http://purl.obolibrary.org/obo/UBERON_0001308 external iliac artery 'external iliac artery' SubClassOf 'iliac artery' http://purl.obolibrary.org/obo/UBERON_0001309 internal iliac artery 'internal iliac artery' SubClassOf 'iliac artery' http://purl.obolibrary.org/obo/UBERON_0001303 left uterine tube 'left uterine tube' SubClassOf 'fallopian tube' http://purl.obolibrary.org/obo/UBERON_0003966 gonial bone 'gonial bone' SubClassOf 'head bone' 'gonial bone' SubClassOf 'endochondral bone' http://purl.obolibrary.org/obo/UBERON_0001304 germinal epithelium of ovary 'germinal epithelium of ovary' SubClassOf 'simple cuboidal epithelium' 'germinal epithelium of ovary' SubClassOf 'epithelium of female gonad' http://purl.obolibrary.org/obo/UBERON_0003968 peripheral lymph node 'peripheral lymph node' SubClassOf 'lymph node' http://purl.obolibrary.org/obo/UBERON_0003962 pterygopalatine ganglion 'pterygopalatine ganglion' SubClassOf 'parasympathetic ganglion' http://purl.obolibrary.org/obo/UBERON_0003964 prevertebral ganglion 'prevertebral ganglion' SubClassOf 'sympathetic ganglion' http://purl.obolibrary.org/obo/UBERON_0001302 right uterine tube 'right uterine tube' SubClassOf 'fallopian tube' http://purl.obolibrary.org/obo/UBERON_0003963 otic ganglion 'otic ganglion' SubClassOf 'parasympathetic ganglion' 'otic ganglion' SubClassOf 'glossopharyngeal ganglion' http://purl.obolibrary.org/obo/UBERON_0001318 inferior vesical vein 'inferior vesical vein' SubClassOf 'vesical vein' http://purl.obolibrary.org/obo/UBERON_0001319 vaginal vein 'vaginal vein' SubClassOf 'vein' http://purl.obolibrary.org/obo/UBERON_0001314 obturator artery 'obturator artery' SubClassOf 'systemic artery' http://purl.obolibrary.org/obo/UBERON_0001315 superior gluteal artery 'superior gluteal artery' SubClassOf 'systemic artery' http://purl.obolibrary.org/obo/UBERON_0001316 external iliac vein 'external iliac vein' SubClassOf 'iliac vein' http://purl.obolibrary.org/obo/UBERON_0001317 internal iliac vein 'internal iliac vein' SubClassOf 'iliac vein' http://purl.obolibrary.org/obo/UBERON_6005569 presumptive embryonic/larval tracheal system 'presumptive embryonic/larval tracheal system' SubClassOf 'presumptive embryonic/larval system' http://purl.obolibrary.org/obo/UBERON_0001310 umbilical artery 'umbilical artery' SubClassOf 'artery' 'umbilical artery' SubClassOf 'umbilical blood vessel' http://purl.obolibrary.org/obo/UBERON_0003973 nasal concha of ethmoid bone 'nasal concha of ethmoid bone' SubClassOf 'turbinate bone' 'nasal concha of ethmoid bone' SubClassOf 'facial bone' http://purl.obolibrary.org/obo/UBERON_0001311 inferior vesical artery 'inferior vesical artery' SubClassOf 'vesical artery' 'inferior vesical artery' SubClassOf 'systemic artery' http://purl.obolibrary.org/obo/UBERON_0001312 superior vesical artery 'superior vesical artery' SubClassOf 'vesical artery' 'superior vesical artery' SubClassOf 'ureteric segment of renal artery' http://purl.obolibrary.org/obo/UBERON_0001313 iliolumbar artery 'iliolumbar artery' SubClassOf 'systemic artery' http://purl.obolibrary.org/obo/UBERON_0003974 upper part of vagina 'upper part of vagina' SubClassOf 'fallopian tube' http://purl.obolibrary.org/obo/UBERON_0003971 interfrontal bone 'interfrontal bone' SubClassOf 'facial bone' http://purl.obolibrary.org/obo/UBERON_0003970 placental labyrinth vasculature 'placental labyrinth vasculature' SubClassOf 'vasculature of organ' http://purl.obolibrary.org/obo/UBERON_0001325 muscle of pelvis 'muscle of pelvis' SubClassOf 'abdominal segment muscle' http://purl.obolibrary.org/obo/UBERON_0001326 levator ani muscle 'levator ani muscle' SubClassOf 'muscle of pelvis' http://purl.obolibrary.org/obo/UBERON_0001327 coccygeus muscle 'coccygeus muscle' SubClassOf 'muscle of pelvis' http://purl.obolibrary.org/obo/UBERON_6005558 ventral ectoderm 'ventral ectoderm' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0001321 obturator vein 'obturator vein' SubClassOf 'vein' http://purl.obolibrary.org/obo/UBERON_0001324 common fibular nerve 'common fibular nerve' SubClassOf 'fibular nerve' 'tibial nerve' DisjointWith 'common fibular nerve' 'common fibular nerve' SubClassOf 'leg nerve' http://purl.obolibrary.org/obo/UBERON_0001320 iliolumbar vein 'iliolumbar vein' SubClassOf 'vein' http://purl.obolibrary.org/obo/UBERON_0001338 urethral gland 'urethral gland' SubClassOf 'mucous gland' http://purl.obolibrary.org/obo/UBERON_0001339 ischiocavernosus muscle 'ischiocavernosus muscle' SubClassOf 'perineal muscle' http://purl.obolibrary.org/obo/UBERON_0001333 male urethra 'male urethra' SubClassOf 'urethra' http://purl.obolibrary.org/obo/UBERON_0003994 pelvic ligament 'pelvic ligament' SubClassOf 'ligament' http://purl.obolibrary.org/obo/UBERON_0001334 female urethra 'female urethra' SubClassOf 'urethra' http://purl.obolibrary.org/obo/UBERON_0001330 pampiniform plexus 'pampiniform plexus' SubClassOf 'venous plexus' http://purl.obolibrary.org/obo/UBERON_0001331 skin of penis 'skin of penis' SubClassOf 'zone of skin' http://purl.obolibrary.org/obo/UBERON_6005514 adult clypeo-labral primordium 'adult clypeo-labral primordium' SubClassOf 'embryonic imaginal precursor' 'adult clypeo-labral primordium' SubClassOf 'primordium' http://purl.obolibrary.org/obo/UBERON_0001380 vastus medialis 'vastus medialis' SubClassOf 'quadriceps femoris' http://purl.obolibrary.org/obo/UBERON_0001381 semimembranosus muscle 'semimembranosus muscle' SubClassOf 'muscle of posterior compartment of hindlimb stylopod' http://purl.obolibrary.org/obo/UBERON_0001382 pectineus muscle 'pectineus muscle' SubClassOf 'adductor muscle of hip' 'pectineus muscle' SubClassOf 'hindlimb stylopod muscle' http://purl.obolibrary.org/obo/UBERON_0001387 fibularis longus 'fibularis longus' SubClassOf 'peroneus' http://purl.obolibrary.org/obo/UBERON_0001383 muscle of leg 'muscle of leg' SubClassOf 'hindlimb muscle' http://purl.obolibrary.org/obo/UBERON_0001386 extensor digitorum longus 'extensor digitorum longus' SubClassOf 'extensor muscle' 'extensor digitorum longus' SubClassOf 'hindlimb muscle' http://purl.obolibrary.org/obo/UBERON_0001390 sural artery 'sural artery' SubClassOf 'artery' http://purl.obolibrary.org/obo/UBERON_0001391 popliteus muscle 'popliteus muscle' SubClassOf 'muscle of leg' http://purl.obolibrary.org/obo/MONDO_0000819 anencephaly 'anencephaly' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/UBERON_0001392 flexor hallucis longus 'flexor hallucis longus' SubClassOf 'flexor muscle' 'flexor hallucis longus' SubClassOf 'muscle of leg' http://purl.obolibrary.org/obo/MONDO_0000812 vertebral column disease 'vertebral column disease' SubClassOf 'skeletal system disease' http://purl.obolibrary.org/obo/UBERON_0001399 deep brachial artery 'deep brachial artery' SubClassOf 'arm blood vessel' 'deep brachial artery' SubClassOf 'artery' http://purl.obolibrary.org/obo/UBERON_0001394 axillary artery 'axillary artery' SubClassOf 'artery' http://purl.obolibrary.org/obo/UBERON_0001395 thoraco-acromial artery 'thoraco-acromial artery' SubClassOf 'artery' http://purl.obolibrary.org/obo/UBERON_0001396 lateral thoracic artery 'lateral thoracic artery' SubClassOf 'artery' http://purl.obolibrary.org/obo/UBERON_0001397 subscapular artery 'subscapular artery' SubClassOf 'artery' http://purl.obolibrary.org/obo/MONDO_0000820 cerebral cavernous malformation 'cerebral cavernous malformation' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/UBERON_0013398 choroidal gland 'choroidal gland' SubClassOf 'cranial blood vasculature' 'gland' DisjointWith 'choroidal gland' 'choroidal gland' SubClassOf 'vasculature of eye' 'choroidal gland' SubClassOf 'venous plexus' http://purl.obolibrary.org/obo/MONDO_0000824 congenital diarrhea 'congenital diarrhea' SubClassOf 'diarrheal disease' http://purl.obolibrary.org/obo/MONDO_0000828 juvenile-onset Parkinson disease 'juvenile-onset Parkinson disease' SubClassOf 'Parkinson's disease' http://purl.obolibrary.org/obo/MONDO_0000827 salmonellosis 'salmonellosis' SubClassOf 'primary bacterial infectious disease' 'salmonellosis' SubClassOf 'disease has feature' some 'dysentery' http://purl.obolibrary.org/obo/MONDO_0000831 thrombotic disease 'thrombotic disease' SubClassOf 'vascular disease' http://purl.obolibrary.org/obo/MONDO_0000834 bone deterioration disease 'bone deterioration disease' SubClassOf 'disease of bone structure' http://purl.obolibrary.org/obo/MONDO_0000833 bone remodeling disease 'bone remodeling disease' SubClassOf 'bone disease' http://purl.obolibrary.org/obo/MONDO_0000839 congenital abnormality 'congenital abnormality' SubClassOf 'has modifier' some 'congenital' 'congenital abnormality' SubClassOf 'disease' http://purl.obolibrary.org/obo/MONDO_0000837 bone resorption disease 'bone resorption disease' SubClassOf 'bone remodeling disease' http://purl.obolibrary.org/obo/MONDO_0000836 disease of bone structure 'disease of bone structure' SubClassOf 'bone disease' http://purl.obolibrary.org/obo/MONDO_0000841 metaphyseal dysplasia 'metaphyseal dysplasia' SubClassOf 'osteochondrodysplasia' http://purl.obolibrary.org/obo/MONDO_0024813 pulmonary sulcus neoplasm 'pulmonary sulcus neoplasm' SubClassOf 'lung neoplasm' http://purl.obolibrary.org/obo/MONDO_0000844 spondyloepimetaphyseal dysplasia 'spondyloepimetaphyseal dysplasia' SubClassOf 'osteochondrodysplasia' http://purl.obolibrary.org/obo/MONDO_0000858 neuronal intestinal dysplasia 'neuronal intestinal dysplasia' SubClassOf 'colonic disease' http://purl.obolibrary.org/obo/MONDO_0000863 myopathy, lactic acidosis, and sideroblastic anemia 'myopathy, lactic acidosis, and sideroblastic anemia' SubClassOf 'myopathy' http://purl.obolibrary.org/obo/MONDO_0000866 myoglobinuria 'myoglobinuria' SubClassOf 'rhabdomyolysis' 'myoglobinuria' SubClassOf 'myopathy' http://purl.obolibrary.org/obo/MONDO_0000865 congenital fiber-type disproportion 'congenital fiber-type disproportion' SubClassOf 'Congenital myopathy' http://purl.obolibrary.org/obo/MONDO_0000870 childhood acute lymphoblastic leukemia 'childhood acute lymphoblastic leukemia' SubClassOf 'pediatric lymphoma' 'childhood acute lymphoblastic leukemia' SubClassOf 'acute lymphoblastic leukemia' 'childhood acute lymphoblastic leukemia' SubClassOf 'primary bone lymphoma' 'childhood acute lymphoblastic leukemia' SubClassOf 'childhood leukemia' 'childhood acute lymphoblastic leukemia' EquivalentTo 'childhood leukemia' and 'acute lymphoblastic leukemia' http://purl.obolibrary.org/obo/MONDO_0000873 lymphoblastic lymphoma 'lymphoblastic lymphoma' SubClassOf 'non-Hodgkins lymphoma' 'lymphoblastic lymphoma' SubClassOf 'precursor lymphoblastic lymphoma/leukemia' http://purl.obolibrary.org/obo/MONDO_0000879 cutaneous candidiasis 'cutaneous candidiasis' SubClassOf 'cutaneous mycosis' 'cutaneous candidiasis' SubClassOf 'candidiasis' 'cutaneous candidiasis' SubClassOf 'skin disease caused by infection' http://purl.obolibrary.org/obo/MONDO_0009229 hyaline fibromatosis syndrome 'hyaline fibromatosis syndrome' SubClassOf 'Primary osteolysis' 'hyaline fibromatosis syndrome' SubClassOf 'hereditary connective tissue disorder' http://purl.obolibrary.org/obo/MONDO_0000894 mucinous bronchioloalveolar adenocarcinoma 'mucinous bronchioloalveolar adenocarcinoma' EquivalentTo 'mucinous neoplasm' and 'bronchoalveolar adenocarcinoma' 'mucinous bronchioloalveolar adenocarcinoma' SubClassOf 'bronchoalveolar adenocarcinoma' 'mucinous bronchioloalveolar adenocarcinoma' SubClassOf 'lung colloid adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0024876 tendon sheath disorder 'tendon sheath disorder' SubClassOf 'Tendinopathy' http://purl.obolibrary.org/obo/MONDO_0010227 retinitis pigmentosa 3 'retinitis pigmentosa 3' SubClassOf 'Retinitis pigmentosa' http://purl.obolibrary.org/obo/MONDO_0024879 metastatic carcinoma 'metastatic carcinoma' SubClassOf 'secondary carcinoma' 'metastatic carcinoma' SubClassOf 'metastatic malignant neoplasm' http://purl.obolibrary.org/obo/MONDO_0024878 secondary carcinoma 'secondary carcinoma' SubClassOf 'carcinoma' 'secondary carcinoma' SubClassOf 'disease arises from feature' some 'carcinoma' 'secondary carcinoma' EquivalentTo 'secondary neoplasm' and ('disease arises from feature' some 'carcinoma') 'secondary carcinoma' SubClassOf 'secondary malignant neoplasm' http://purl.obolibrary.org/obo/MONDO_0022200 treatment for disease 'treatment for disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0022201 has treatment by surgery 'has treatment by surgery' SubClassOf 'treatment for disease' http://purl.obolibrary.org/obo/MONDO_0022202 disseminated 'disseminated' SubClassOf 'locational disease characteristic' http://purl.obolibrary.org/obo/MONDO_0024892 soft tissue amyloid neoplasm 'soft tissue amyloid neoplasm' SubClassOf 'amyloidosis' 'soft tissue amyloid neoplasm' SubClassOf 'Soft Tissue Neoplasm' 'soft tissue amyloid neoplasm' EquivalentTo 'Soft Tissue Neoplasm' and 'amyloidosis' http://purl.obolibrary.org/obo/MONDO_0024890 pineal parenchymal cell neoplasm 'pineal parenchymal cell neoplasm' SubClassOf 'pineal body neoplasm' 'pineal parenchymal cell neoplasm' SubClassOf 'neuroepithelial neoplasm' http://purl.obolibrary.org/obo/MONDO_0036870 lymphatic vessel neoplasm 'lymphatic vessel neoplasm' SubClassOf 'vascular disease' 'lymphatic vessel neoplasm' SubClassOf 'vascular neoplasm' 'lymphatic vessel neoplasm' SubClassOf 'lymphatic system disease' http://purl.obolibrary.org/obo/MONDO_0024882 secondary neoplasm 'secondary neoplasm' SubClassOf 'neoplastic disease or syndrome' 'secondary neoplasm' EquivalentTo 'neoplastic disease or syndrome' and ('disease arises from feature' some 'neoplasm') 'secondary neoplasm' SubClassOf 'disease arises from feature' some 'neoplasm' http://purl.obolibrary.org/obo/MONDO_0024881 secondary malignant neoplasm 'secondary malignant neoplasm' SubClassOf 'cancer' 'secondary malignant neoplasm' SubClassOf 'secondary neoplasm' http://purl.obolibrary.org/obo/MONDO_0024886 serous adenofibroma 'serous adenofibroma' SubClassOf 'Adenofibroma' http://purl.obolibrary.org/obo/MONDO_0024885 malignant ovarian serous tumor 'malignant ovarian serous tumor' SubClassOf 'ovarian serous tumor' 'malignant ovarian serous tumor' SubClassOf 'Malignant epithelial tumor of ovary' http://purl.obolibrary.org/obo/MONDO_0024880 metastatic malignant neoplasm 'metastatic malignant neoplasm' SubClassOf 'secondary malignant neoplasm' 'metastatic malignant neoplasm' SubClassOf 'metastatic neoplasm' http://purl.obolibrary.org/obo/UBERON_0001406 ulnar artery 'ulnar artery' SubClassOf 'artery' http://purl.obolibrary.org/obo/UBERON_0001407 semispinalis thoracis 'semispinalis thoracis' SubClassOf 'semispinalis muscle' http://purl.obolibrary.org/obo/UBERON_0001408 semispinalis cervicis 'semispinalis cervicis' SubClassOf 'semispinalis muscle' http://purl.obolibrary.org/obo/UBERON_0001409 semispinalis capitis 'semispinalis capitis' SubClassOf 'semispinalis muscle' http://purl.obolibrary.org/obo/UBERON_0001402 longissimus cervicis muscle 'longissimus cervicis muscle' SubClassOf 'longissimus muscle' 'longissimus cervicis muscle' SubClassOf 'axial muscle' http://purl.obolibrary.org/obo/UBERON_0001403 longissimus capitis 'longissimus capitis' SubClassOf 'longissimus muscle' http://purl.obolibrary.org/obo/UBERON_0001404 radial artery 'radial artery' SubClassOf 'artery' http://purl.obolibrary.org/obo/UBERON_0001405 spinalis thoracis muscle 'spinalis thoracis muscle' SubClassOf 'spinalis muscle' http://purl.obolibrary.org/obo/UBERON_0001400 iliocostalis thoracis muscle 'iliocostalis thoracis muscle' SubClassOf 'iliocostalis muscle' http://purl.obolibrary.org/obo/UBERON_0001417 skin of neck 'skin of neck' SubClassOf 'head or neck skin' http://purl.obolibrary.org/obo/UBERON_0001418 skin of thorax 'skin of thorax' SubClassOf 'skin of trunk' http://purl.obolibrary.org/obo/UBERON_0001419 skin of limb 'skin of limb' SubClassOf 'zone of skin' http://purl.obolibrary.org/obo/UBERON_0001413 brachial vein 'brachial vein' SubClassOf 'vein' 'brachial vein' SubClassOf 'arm blood vessel' http://purl.obolibrary.org/obo/UBERON_0001414 median basilic vein 'median basilic vein' SubClassOf 'basilic vein' http://purl.obolibrary.org/obo/UBERON_0001410 common palmar digital artery 'common palmar digital artery' SubClassOf 'palmar digital artery' http://purl.obolibrary.org/obo/UBERON_0001411 basilic vein 'basilic vein' SubClassOf 'forelimb blood vessel' 'basilic vein' SubClassOf 'superficial vein' http://purl.obolibrary.org/obo/UBERON_0001412 common palmar digital vein 'common palmar digital vein' SubClassOf 'forelimb digital vein' http://purl.obolibrary.org/obo/UBERON_0001226 major calyx 'major calyx' SubClassOf 'renal venous blood vessel' 'major calyx' SubClassOf 'vein of abdomen' http://purl.obolibrary.org/obo/UBERON_0001227 minor calyx 'minor calyx' SubClassOf 'renal venous blood vessel' 'minor calyx' SubClassOf 'vein of abdomen' http://purl.obolibrary.org/obo/UBERON_0013211 cerumen gland 'cerumen gland' SubClassOf 'apocrine sweat gland' http://purl.obolibrary.org/obo/UBERON_0015876 pelvic lymph node 'pelvic lymph node' SubClassOf 'lymph node' http://purl.obolibrary.org/obo/UBERON_0015877 parietal pelvic lymph node 'parietal pelvic lymph node' SubClassOf 'pelvic lymph node' http://purl.obolibrary.org/obo/UBERON_0015870 lymph node of head 'lymph node of head' SubClassOf 'lymph node' http://purl.obolibrary.org/obo/UBERON_0015871 facial lymph node 'facial lymph node' SubClassOf 'lymph node of head' http://purl.obolibrary.org/obo/UBERON_0015872 mandibular lymph node 'mandibular lymph node' SubClassOf 'facial lymph node' http://purl.obolibrary.org/obo/UBERON_0015873 heel skin 'heel skin' SubClassOf 'skin of ankle' http://purl.obolibrary.org/obo/UBERON_0013219 parotoid gland 'parotid gland' DisjointWith 'parotoid gland' 'parotoid gland' SubClassOf 'gland' http://purl.obolibrary.org/obo/UBERON_0013218 rete mirabile 'rete mirabile' SubClassOf 'vasculature' http://purl.obolibrary.org/obo/UBERON_0015878 common iliac lymph node 'common iliac lymph node' SubClassOf 'parietal pelvic lymph node' http://purl.obolibrary.org/obo/UBERON_0001222 right ureter 'right ureter' SubClassOf 'ureter' http://purl.obolibrary.org/obo/UBERON_0001223 left ureter 'left ureter' SubClassOf 'ureter' http://purl.obolibrary.org/obo/UBERON_0003887 intraembryonic coelom 'intraembryonic coelom' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0001220 quadratus lumborum 'quadratus lumborum' SubClassOf 'axial muscle' 'quadratus lumborum' SubClassOf 'muscle of abdomen' 'quadratus lumborum' SubClassOf 'muscle of vertebral column' http://purl.obolibrary.org/obo/UBERON_0001221 transversus abdominis muscle 'transversus abdominis muscle' SubClassOf 'anterior abdominal wall muscle' http://purl.obolibrary.org/obo/UBERON_0001239 muscularis mucosae of large intestine 'muscularis mucosae of large intestine' SubClassOf 'large intestine smooth muscle' 'muscularis mucosae of large intestine' SubClassOf 'muscularis mucosae of intestine' http://purl.obolibrary.org/obo/UBERON_0015863 gastric lymph node 'gastric lymph node' SubClassOf 'visceral abdominal lymph node' http://purl.obolibrary.org/obo/UBERON_0015865 pancreaticosplenic lymph node 'pancreaticosplenic lymph node' SubClassOf 'visceral abdominal lymph node' http://purl.obolibrary.org/obo/UBERON_0015866 pyloric lymph node 'pyloric lymph node' SubClassOf 'visceral abdominal lymph node' http://purl.obolibrary.org/obo/UBERON_0013204 epipubic bone 'epipubic bone' SubClassOf 'pelvic girdle bone/zone' http://purl.obolibrary.org/obo/UBERON_0015860 visceral abdominal lymph node 'visceral abdominal lymph node' SubClassOf 'abdominal lymph node' http://purl.obolibrary.org/obo/UBERON_0013208 Grueneberg ganglion 'Grueneberg ganglion' SubClassOf 'ganglion' http://purl.obolibrary.org/obo/UBERON_0015867 cystic lymph node 'cystic lymph node' SubClassOf 'visceral abdominal lymph node' http://purl.obolibrary.org/obo/UBERON_0015868 lymph node of epiploic foramen 'lymph node of epiploic foramen' SubClassOf 'visceral abdominal lymph node' http://purl.obolibrary.org/obo/UBERON_0015869 retropharyngeal lymph node 'retropharyngeal lymph node' SubClassOf 'deep anterior cervical lymph node' http://purl.obolibrary.org/obo/UBERON_0001233 right adrenal gland 'right adrenal gland' SubClassOf 'adrenal/interrenal gland' http://purl.obolibrary.org/obo/UBERON_0001234 left adrenal gland 'left adrenal gland' SubClassOf 'adrenal/interrenal gland' http://purl.obolibrary.org/obo/UBERON_0003895 hypaxial myotome region 'hypaxial myotome region' SubClassOf 'skeletal muscle tissue' http://purl.obolibrary.org/obo/UBERON_0003898 skeletal muscle tissue of trunk 'skeletal muscle tissue of trunk' SubClassOf 'skeletal muscle tissue' http://purl.obolibrary.org/obo/UBERON_0003897 axial muscle 'axial muscle' SubClassOf 'skeletal muscle organ' http://purl.obolibrary.org/obo/UBERON_0001249 spleen lymphoid follicle 'spleen lymphoid follicle' SubClassOf 'lymphoid follicle' http://purl.obolibrary.org/obo/UBERON_0013233 supraorbital gland 'supraorbital gland' SubClassOf 'gland of nasal mucosa' 'supraorbital gland' SubClassOf 'cranial salt gland' http://purl.obolibrary.org/obo/UBERON_0013231 sebaceous gland of eyelid 'sebaceous gland of eyelid' SubClassOf 'eye sebaceous gland' 'sebaceous gland of eyelid' SubClassOf 'eyelid gland' http://purl.obolibrary.org/obo/UBERON_0013230 nictitans gland 'nictitans gland' SubClassOf 'eyelid gland' 'nictitans gland' SubClassOf 'medial gland of ocular region' http://purl.obolibrary.org/obo/UBERON_0013234 violet gland 'violet gland' SubClassOf 'scent gland' http://purl.obolibrary.org/obo/UBERON_0015895 proximal deep inguinal lymph node 'proximal deep inguinal lymph node' SubClassOf 'deep inguinal lymph node' http://purl.obolibrary.org/obo/UBERON_0001244 internal anal sphincter 'internal anal sphincter' SubClassOf 'anal region smooth muscle' http://purl.obolibrary.org/obo/UBERON_0001246 interlobular bile duct 'interlobular bile duct' SubClassOf 'intrahepatic bile duct' http://purl.obolibrary.org/obo/UBERON_0001247 falciform ligament 'falciform ligament' SubClassOf 'ligament of liver' http://purl.obolibrary.org/obo/UBERON_0001240 muscularis mucosae of intestine 'muscularis mucosae of intestine' SubClassOf 'intestine smooth muscle' 'muscularis mucosae of intestine' SubClassOf 'muscularis mucosa' http://purl.obolibrary.org/obo/UBERON_0001241 crypt of Lieberkuhn of small intestine 'crypt of Lieberkuhn of small intestine' SubClassOf 'crypt of Lieberkuhn' http://purl.obolibrary.org/obo/UBERON_0001242 intestinal mucosa 'intestinal mucosa' SubClassOf 'gastrointestinal system mucosa' http://purl.obolibrary.org/obo/UBERON_0015880 external iliac lymph node 'external iliac lymph node' SubClassOf 'parietal pelvic lymph node' http://purl.obolibrary.org/obo/UBERON_0013221 caudofemoralis 'caudofemoralis' SubClassOf 'hindlimb muscle' http://purl.obolibrary.org/obo/UBERON_0013226 accessory lacrimal gland 'accessory lacrimal gland' SubClassOf 'lacrimal gland' http://purl.obolibrary.org/obo/UBERON_0015881 internal iliac lymph node 'internal iliac lymph node' SubClassOf 'parietal pelvic lymph node' http://purl.obolibrary.org/obo/UBERON_0013224 Ciaccio's gland 'Ciaccio's gland' SubClassOf 'accessory lacrimal gland' 'Ciaccio's gland' SubClassOf 'eyelid gland' http://purl.obolibrary.org/obo/UBERON_0015883 gluteal lymph node 'gluteal lymph node' SubClassOf 'parietal pelvic lymph node' http://purl.obolibrary.org/obo/UBERON_0013223 alveolar gland 'alveolar gland' SubClassOf 'gland' http://purl.obolibrary.org/obo/UBERON_0015884 presymphysial lymph node 'presymphysial lymph node' SubClassOf 'parietal pelvic lymph node' http://purl.obolibrary.org/obo/UBERON_0013229 eyelid gland 'eyelid gland' SubClassOf 'gland of ocular region' 'eyelid gland' SubClassOf 'eye gland' http://purl.obolibrary.org/obo/UBERON_0013228 sweat gland of eyelid 'sweat gland of eyelid' SubClassOf 'eyelid gland' 'sweat gland of eyelid' SubClassOf 'eye skin gland' 'sweat gland of eyelid' SubClassOf 'apocrine sweat gland' http://purl.obolibrary.org/obo/UBERON_0013227 crypt of Henle 'crypt of Henle' SubClassOf 'accessory lacrimal gland' http://purl.obolibrary.org/obo/UBERON_0001254 urothelium of ureter 'urothelium of ureter' SubClassOf 'meso-epithelium' 'urothelium of ureter' SubClassOf 'urothelium' http://purl.obolibrary.org/obo/UBERON_0003848 gonadal vein 'gonadal vein' SubClassOf 'vein' http://purl.obolibrary.org/obo/UBERON_0003845 lower eyelid epithelium 'lower eyelid epithelium' SubClassOf 'eyelid epithelium' http://purl.obolibrary.org/obo/UBERON_0003844 upper eyelid epithelium 'upper eyelid epithelium' SubClassOf 'eyelid epithelium' http://purl.obolibrary.org/obo/UBERON_0003847 thyroid artery 'thyroid artery' SubClassOf 'artery' http://purl.obolibrary.org/obo/UBERON_0003846 thymus epithelium 'thymus epithelium' SubClassOf 'endo-epithelium' 'thymus epithelium' SubClassOf 'meso-epithelium' http://purl.obolibrary.org/obo/UBERON_0015833 foregut epithelium 'foregut epithelium' SubClassOf 'digestive tract epithelium' http://purl.obolibrary.org/obo/UBERON_0015839 molar epithelium 'molar epithelium' SubClassOf 'dental epithelium' http://purl.obolibrary.org/obo/UBERON_0003841 autopod joint 'autopod joint' SubClassOf 'limb joint' http://purl.obolibrary.org/obo/UBERON_0003840 hindlimb joint 'hindlimb joint' SubClassOf 'limb joint' http://purl.obolibrary.org/obo/UBERON_0003843 dental epithelium 'dental epithelium' SubClassOf 'ecto-epithelium' http://purl.obolibrary.org/obo/UBERON_0003856 uncondensed odontogenic mesenchyme 'uncondensed odontogenic mesenchyme' SubClassOf 'mesenchyme derived from head neural crest' http://purl.obolibrary.org/obo/UBERON_0003858 lower eyelid mesenchyme 'lower eyelid mesenchyme' SubClassOf 'eyelid mesenchyme' http://purl.obolibrary.org/obo/UBERON_0003857 upper eyelid mesenchyme 'upper eyelid mesenchyme' SubClassOf 'eyelid mesenchyme' http://purl.obolibrary.org/obo/UBERON_6003024 adult abdominal segment 'adult abdominal segment' SubClassOf 'adult segment' 'adult abdominal segment' SubClassOf 'insect abdominal segment' http://purl.obolibrary.org/obo/UBERON_6003020 adult prothoracic segment 'adult prothoracic segment' SubClassOf 'adult thoracic segment' 'adult prothoracic segment' SubClassOf 'prothoracic segment' http://purl.obolibrary.org/obo/UBERON_6003021 adult mesothoracic segment 'adult mesothoracic segment' SubClassOf 'adult thoracic segment' 'adult mesothoracic segment' SubClassOf 'mesothoracic segment' http://purl.obolibrary.org/obo/UBERON_0003852 rhombencephalon neural crest 'rhombencephalon neural crest' SubClassOf 'neural crest' 'rhombencephalon neural crest' SubClassOf 'cranial neural crest' http://purl.obolibrary.org/obo/UBERON_0003854 spinal cord neural plate 'spinal cord neural plate' SubClassOf 'neural plate' http://purl.obolibrary.org/obo/UBERON_0003853 spinal cord neural crest 'spinal cord neural crest' SubClassOf 'neural crest' http://purl.obolibrary.org/obo/UBERON_0001204 mucosa of small intestine 'mucosa of small intestine' SubClassOf 'intestinal mucosa' http://purl.obolibrary.org/obo/UBERON_0003867 distal phalanx of pes 'distal phalanx of pes' SubClassOf 'phalanx of pes' 'distal phalanx of pes' SubClassOf 'distal phalanx' http://purl.obolibrary.org/obo/UBERON_0003866 middle phalanx of pes 'middle phalanx of pes' SubClassOf 'middle phalanx' 'middle phalanx of pes' SubClassOf 'phalanx of pes' http://purl.obolibrary.org/obo/UBERON_0003869 presumptive ganglion 'presumptive ganglion' SubClassOf 'presumptive structure' http://purl.obolibrary.org/obo/UBERON_0001207 mucosa of large intestine 'mucosa of large intestine' SubClassOf 'intestinal mucosa' http://purl.obolibrary.org/obo/UBERON_0003868 proximal phalanx of pes 'proximal phalanx of pes' SubClassOf 'proximal phalanx' 'proximal phalanx of pes' SubClassOf 'phalanx of pes' http://purl.obolibrary.org/obo/UBERON_0015852 narwhal tusk 'narwhal tusk' SubClassOf 'upper jaw incisor' 'narwhal tusk' SubClassOf 'incisor tusk' http://purl.obolibrary.org/obo/UBERON_0015855 ventral ectodermal ridge 'ventral ectodermal ridge' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_6003019 adult thoracic segment 'adult thoracic segment' SubClassOf 'adult segment' 'adult thoracic segment' SubClassOf 'thoracic segment' http://purl.obolibrary.org/obo/UBERON_0015850 upper left incisor tusk 'upper left incisor tusk' SubClassOf 'upper left incisor tooth' 'upper left incisor tusk' SubClassOf 'incisor tusk' http://purl.obolibrary.org/obo/UBERON_0015851 upper right incisor tusk 'upper right incisor tusk' SubClassOf 'incisor tusk' 'upper right incisor tusk' SubClassOf 'upper jaw incisor' http://purl.obolibrary.org/obo/UBERON_6003011 adult labral segment 'adult labral segment' SubClassOf 'adult procephalic segment' 'adult labral segment' SubClassOf 'labral segment' http://purl.obolibrary.org/obo/UBERON_0015857 parotid lymph node 'parotid lymph node' SubClassOf 'lymph node of head' http://purl.obolibrary.org/obo/UBERON_6003012 adult antennal segment 'adult antennal segment' SubClassOf 'adult procephalic segment' 'adult antennal segment' SubClassOf 'antennal segment' http://purl.obolibrary.org/obo/UBERON_0015859 hepatic lymph node 'hepatic lymph node' SubClassOf 'visceral abdominal lymph node' http://purl.obolibrary.org/obo/UBERON_6003010 adult procephalic segment 'adult procephalic segment' SubClassOf 'adult head segment' 'adult procephalic segment' SubClassOf 'procephalic segment' http://purl.obolibrary.org/obo/UBERON_0003863 pedal digit 5 phalanx 'pedal digit 5 phalanx' SubClassOf 'phalanx of pes' http://purl.obolibrary.org/obo/UBERON_0003862 pedal digit 4 phalanx 'pedal digit 4 phalanx' SubClassOf 'phalanx of pes' http://purl.obolibrary.org/obo/UBERON_0003865 distal phalanx of manus 'distal phalanx of manus' SubClassOf 'distal phalanx' 'distal phalanx of manus' SubClassOf 'phalanx of manus' http://purl.obolibrary.org/obo/UBERON_0001203 muscularis mucosae of stomach 'muscularis mucosae of stomach' SubClassOf 'muscularis mucosa' 'muscularis mucosae of stomach' SubClassOf 'stomach smooth muscle' http://purl.obolibrary.org/obo/UBERON_0003864 middle phalanx of manus 'middle phalanx of manus' SubClassOf 'phalanx of manus' 'middle phalanx of manus' SubClassOf 'middle phalanx' http://purl.obolibrary.org/obo/UBERON_0001219 ileocolic vein 'ileocolic vein' SubClassOf 'ileal vein' http://purl.obolibrary.org/obo/UBERON_0001215 inferior mesenteric vein 'inferior mesenteric vein' SubClassOf 'mesenteric vein' http://purl.obolibrary.org/obo/UBERON_0001216 jejunal vein 'jejunal vein' SubClassOf 'portal vein' http://purl.obolibrary.org/obo/UBERON_0001217 ileal vein 'ileal vein' SubClassOf 'portal vein' http://purl.obolibrary.org/obo/UBERON_0001218 middle colic vein 'middle colic vein' SubClassOf 'portal vein' http://purl.obolibrary.org/obo/UBERON_0015841 molar dental lamina 'molar dental lamina' SubClassOf 'dental lamina' 'molar dental lamina' SubClassOf 'molar epithelium' http://purl.obolibrary.org/obo/UBERON_0015844 molar dental papilla 'molar dental papilla' SubClassOf 'odontogenic papilla' http://purl.obolibrary.org/obo/UBERON_6003009 adult head segment 'adult head segment' SubClassOf 'adult segment' 'adult head segment' SubClassOf 'head segment' http://purl.obolibrary.org/obo/UBERON_6003006 adult segment 'adult segment' SubClassOf 'organismal segment' http://purl.obolibrary.org/obo/UBERON_0015840 incisor dental lamina 'incisor dental lamina' SubClassOf 'epithelium of incisor' 'incisor dental lamina' SubClassOf 'dental lamina' http://purl.obolibrary.org/obo/UBERON_6003007 insect adult head 'insect adult head' SubClassOf 'head' http://purl.obolibrary.org/obo/UBERON_0015849 canine tusk 'canine tusk' SubClassOf 'tusk' 'canine tusk' SubClassOf 'cuspid' http://purl.obolibrary.org/obo/UBERON_0015846 incisor mesenchyme 'incisor mesenchyme' SubClassOf 'uncondensed odontogenic mesenchyme' http://purl.obolibrary.org/obo/UBERON_0015847 upper left incisor tooth 'upper left incisor tooth' SubClassOf 'upper jaw incisor' http://purl.obolibrary.org/obo/UBERON_0015848 incisor tusk 'incisor tusk' SubClassOf 'tusk' 'incisor tusk' SubClassOf 'incisor tooth' http://purl.obolibrary.org/obo/UBERON_0001212 duodenal gland 'duodenal gland' SubClassOf 'submucosal gland' 'duodenal gland' SubClassOf 'gland of digestive tract' http://purl.obolibrary.org/obo/UBERON_0001214 pancreatic tributary of splenic vein 'pancreatic tributary of splenic vein' SubClassOf 'portal vein' http://purl.obolibrary.org/obo/UBERON_0001210 muscularis mucosae of small intestine 'muscularis mucosae of small intestine' SubClassOf 'small intestine smooth muscle' 'muscularis mucosae of small intestine' SubClassOf 'muscularis mucosae of intestine' http://purl.obolibrary.org/obo/UBERON_0001267 femoral nerve 'femoral nerve' SubClassOf 'leg nerve' http://purl.obolibrary.org/obo/UBERON_0001268 peritoneal fluid 'peritoneal fluid' SubClassOf 'transudate' 'peritoneal fluid' SubClassOf 'secretion of serous gland' http://purl.obolibrary.org/obo/UBERON_0013244 vaginal plate 'vaginal plate' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0013241 embryonic urethral groove 'embryonic urethral groove' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0013248 paradidymis 'paradidymis' SubClassOf 'epithelial tube' 'paradidymis' SubClassOf 'meso-epithelium' http://purl.obolibrary.org/obo/UBERON_0013247 male paramesonephric duct 'male paramesonephric duct' SubClassOf 'meso-epithelium' 'male paramesonephric duct' SubClassOf 'epithelial tube' http://purl.obolibrary.org/obo/UBERON_0013245 sinovaginal bulb 'sinovaginal bulb' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0001272 innominate bone 'innominate bone' SubClassOf 'flat bone' 'innominate bone' SubClassOf 'pelvic girdle bone/zone' http://purl.obolibrary.org/obo/UBERON_0013249 paroophoron 'paroophoron' SubClassOf 'epithelial tube' 'paroophoron' SubClassOf 'meso-epithelium' http://purl.obolibrary.org/obo/UBERON_0001278 epithelium of large intestine 'epithelium of large intestine' SubClassOf 'intestinal epithelium' http://purl.obolibrary.org/obo/UBERON_0001274 ischium 'ischium' SubClassOf 'endochondral bone' 'ischium' SubClassOf 'pelvic girdle bone/zone' 'ischium' SubClassOf 'bone of hip region' http://purl.obolibrary.org/obo/UBERON_0001275 pubis 'pubis' SubClassOf 'endochondral bone' 'pubis' SubClassOf 'bone of hip region' 'pubis' SubClassOf 'pelvic girdle bone/zone' http://purl.obolibrary.org/obo/UBERON_0001276 epithelium of stomach 'epithelium of stomach' SubClassOf 'foregut epithelium' 'epithelium of stomach' SubClassOf 'simple columnar epithelium' 'epithelium of stomach' SubClassOf 'gastrointestinal system epithelium' 'epithelium of stomach' SubClassOf 'epithelium of mucosa' http://purl.obolibrary.org/obo/UBERON_0001281 hepatic sinusoid 'hepatic sinusoid' SubClassOf 'liver blood vessel' 'hepatic sinusoid' SubClassOf 'endo-epithelium' 'hepatic sinusoid' SubClassOf 'sinusoid' http://purl.obolibrary.org/obo/MONDO_0000709 Crohn ileitis 'Crohn ileitis' SubClassOf 'small bowel Crohn's disease' http://purl.obolibrary.org/obo/UBERON_0001282 intralobular bile duct 'intralobular bile duct' SubClassOf 'intrahepatic bile duct' http://purl.obolibrary.org/obo/UBERON_0001288 loop of Henle 'loop of Henle' SubClassOf 'region of nephron tubule' http://purl.obolibrary.org/obo/UBERON_0001289 descending limb of loop of Henle 'descending limb of loop of Henle' SubClassOf 'region of nephron tubule' http://purl.obolibrary.org/obo/MONDO_0000701 ischemic colitis 'ischemic colitis' SubClassOf 'colitis' 'ischemic colitis' EquivalentTo 'colitis' and ('disease arises from feature' some 'ischemic disease') 'ischemic colitis' SubClassOf 'vascular disease' 'ischemic colitis' SubClassOf 'disease arises from feature' some 'ischemic disease' http://purl.obolibrary.org/obo/UBERON_0001287 proximal convoluted tubule 'proximal convoluted tubule' SubClassOf 'meso-epithelium' 'proximal convoluted tubule' SubClassOf 'renal cortex tubule' 'proximal convoluted tubule' SubClassOf 'renal convoluted tubule' http://purl.obolibrary.org/obo/UBERON_0001291 thick ascending limb of loop of Henle 'thick ascending limb of loop of Henle' SubClassOf 'renal straight tubule' http://purl.obolibrary.org/obo/UBERON_0001292 distal convoluted tubule 'distal convoluted tubule' SubClassOf 'renal cortex tubule' 'distal convoluted tubule' SubClassOf 'meso-epithelium' 'distal convoluted tubule' SubClassOf 'renal convoluted tubule' http://purl.obolibrary.org/obo/UBERON_0001290 proximal straight tubule 'proximal straight tubule' SubClassOf 'renal straight tubule' 'proximal straight tubule' SubClassOf 'renal cortex tubule' http://purl.obolibrary.org/obo/MONDO_0000712 FTDALS 'FTDALS' SubClassOf 'Frontotemporal dementia with motor neuron disease' 'FTDALS' SubClassOf 'familial amyotrophic lateral sclerosis' 'FTDALS' EquivalentTo 'amyotrophic lateral sclerosis' and 'Frontotemporal dementia with motor neuron disease' http://purl.obolibrary.org/obo/UBERON_0001298 psoas major muscle 'psoas major muscle' SubClassOf 'psoas muscle' http://purl.obolibrary.org/obo/MONDO_0000721 xanthinuria 'xanthinuria' SubClassOf 'metabolic disease' 'xanthinuria' SubClassOf 'nutritional or metabolic disease' http://purl.obolibrary.org/obo/MONDO_0000722 non-syndromic synpolydactyly 'non-syndromic synpolydactyly' EquivalentTo 'synpolydactyly' and ('has modifier' some 'has an isolated presentation') 'non-syndromic synpolydactyly' SubClassOf 'synpolydactyly' 'non-syndromic synpolydactyly' SubClassOf 'Syndactyly' 'non-syndromic synpolydactyly' SubClassOf 'Polydactyly' http://purl.obolibrary.org/obo/MONDO_0000728 ptosis (disease) 'ptosis (disease)' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/MONDO_0000726 idiopathic scoliosis 'idiopathic scoliosis' SubClassOf 'scoliosis' http://purl.obolibrary.org/obo/MONDO_0000732 combined oxidative phosphorylation deficiency 'combined oxidative phosphorylation deficiency' SubClassOf 'Mitochondrial oxidative phosphorylation disorder' http://purl.obolibrary.org/obo/MONDO_0000734 Ohdo syndrome and variants 'Ohdo syndrome and variants' SubClassOf 'Blepharophimosis-intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0000733 cornea plana 'cornea plana' SubClassOf 'corneal disease' http://purl.obolibrary.org/obo/MONDO_0000761 syndrome caused by partial chromosomal deletion 'syndrome caused by partial chromosomal deletion' SubClassOf 'Chromosomal anomaly' http://purl.obolibrary.org/obo/MONDO_0000764 epithelial-stromal TGFBI dystrophy 'epithelial-stromal TGFBI dystrophy' SubClassOf 'Corneal dystrophy' http://purl.obolibrary.org/obo/MONDO_0000763 epithelial and subepithelial corneal dystrophy 'epithelial and subepithelial corneal dystrophy' SubClassOf 'Corneal dystrophy' http://purl.obolibrary.org/obo/MONDO_0000762 syndrome caused by partial chromosomal duplication 'syndrome caused by partial chromosomal duplication' SubClassOf 'Chromosomal anomaly' http://purl.obolibrary.org/obo/MONDO_0000766 corneal endothelial dystrophy 'corneal endothelial dystrophy' SubClassOf 'Corneal dystrophy' http://purl.obolibrary.org/obo/MONDO_0000771 allergic respiratory disease 'allergic respiratory disease' SubClassOf 'allergy' 'allergic respiratory disease' SubClassOf 'respiratory system disease' http://purl.obolibrary.org/obo/MONDO_0000774 autoimmune neuropathy 'autoimmune neuropathy' SubClassOf 'autoimmune disease of peripheral nervous system' 'autoimmune neuropathy' SubClassOf 'peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0024757 cardiovascular neoplasm 'cardiovascular neoplasm' SubClassOf 'cardiovascular disease' 'cardiovascular neoplasm' SubClassOf 'neoplasm' http://purl.obolibrary.org/obo/UBERON_0003924 ventral pancreatic bud 'ventral pancreatic bud' SubClassOf 'pancreatic bud' http://purl.obolibrary.org/obo/UBERON_0003923 dorsal pancreatic bud 'dorsal pancreatic bud' SubClassOf 'pancreatic bud' http://purl.obolibrary.org/obo/MONDO_0010127 thymoma, familial 'thymoma, familial' SubClassOf 'inherited genetic disease' 'thymoma, familial' SubClassOf 'Thymoma' 'thymoma, familial' EquivalentTo 'Thymoma' and ('has modifier' some 'inherited') http://purl.obolibrary.org/obo/UBERON_0003929 digestive tract epithelium 'digestive tract epithelium' SubClassOf 'epithelium' http://purl.obolibrary.org/obo/UBERON_0015917 superficial lymph node 'superficial lymph node' SubClassOf 'lymph node' http://purl.obolibrary.org/obo/UBERON_0015918 deep lymph node 'deep lymph node' SubClassOf 'lymph node' http://purl.obolibrary.org/obo/UBERON_0003920 venous blood vessel 'venous blood vessel' SubClassOf 'blood vessel' http://purl.obolibrary.org/obo/UBERON_0003937 reproductive gland 'reproductive gland' SubClassOf 'gland' http://purl.obolibrary.org/obo/UBERON_0003930 atrioventricular canal endocardium 'atrioventricular canal endocardium' SubClassOf 'endocardium' http://purl.obolibrary.org/obo/UBERON_0003943 fourth lumbar dorsal root ganglion 'fourth lumbar dorsal root ganglion' SubClassOf 'lumbar dorsal root ganglion' http://purl.obolibrary.org/obo/UBERON_0003942 somatic sensory system 'somatic sensory system' SubClassOf 'sensory system' http://purl.obolibrary.org/obo/UBERON_0003954 squamoparietal suture 'squamoparietal suture' SubClassOf 'cranial suture' http://purl.obolibrary.org/obo/UBERON_0003956 aqueous drainage system 'aqueous drainage system' SubClassOf 'anatomical system' http://purl.obolibrary.org/obo/UBERON_0015926 cranial deep lymph node 'cranial deep lymph node' SubClassOf 'lymph node of head' http://purl.obolibrary.org/obo/UBERON_0015922 accessory mandibular lymph node 'accessory mandibular lymph node' SubClassOf 'facial lymph node' http://purl.obolibrary.org/obo/UBERON_0015923 superficial parotid lymph node 'superficial parotid lymph node' SubClassOf 'parotid lymph node' 'superficial parotid lymph node' SubClassOf 'superficial lymph node' http://purl.obolibrary.org/obo/UBERON_0015925 superficial intraparotid lymph node 'superficial intraparotid lymph node' SubClassOf 'intraparotid lymph node' 'superficial intraparotid lymph node' SubClassOf 'superficial lymph node' http://purl.obolibrary.org/obo/MONDO_0009179 recessive dystrophic epidermolysis bullosa 'recessive dystrophic epidermolysis bullosa' SubClassOf 'Rare genetic neurological disorder' 'recessive dystrophic epidermolysis bullosa' SubClassOf 'congenital nervous system disorder' 'recessive dystrophic epidermolysis bullosa' SubClassOf 'Dystrophic epidermolysis bullosa' 'recessive dystrophic epidermolysis bullosa' SubClassOf 'Hereditary epidermolysis bullosa associated with ocular features' 'recessive dystrophic epidermolysis bullosa' SubClassOf 'epidermolysis bullosa dystrophica' http://purl.obolibrary.org/obo/UBERON_0003900 epaxial myotome region 'epaxial myotome region' SubClassOf 'skeletal muscle tissue' http://purl.obolibrary.org/obo/UBERON_0003908 right atrioventricular canal 'right atrioventricular canal' SubClassOf 'atrioventricular canal' http://purl.obolibrary.org/obo/UBERON_0003907 left atrioventricular canal 'left atrioventricular canal' SubClassOf 'atrioventricular canal' http://purl.obolibrary.org/obo/UBERON_0003909 sinusoid 'sinusoid' SubClassOf 'fenestrated capillary' http://purl.obolibrary.org/obo/UBERON_0003915 endothelial tube 'endothelial tube' SubClassOf 'endothelium' 'endothelial tube' SubClassOf 'epithelial tube' http://purl.obolibrary.org/obo/UBERON_0003914 epithelial tube 'epithelial tube' SubClassOf 'epithelium' http://purl.obolibrary.org/obo/UBERON_0003916 fat pad 'fat pad' SubClassOf 'adipose tissue' http://purl.obolibrary.org/obo/UBERON_0003911 choroid plexus epithelium 'choroid plexus epithelium' SubClassOf 'ecto-epithelium' http://purl.obolibrary.org/obo/UBERON_0003910 splenic sinusoid 'splenic sinusoid' SubClassOf 'abdomen blood vessel' 'splenic sinusoid' SubClassOf 'sinusoid' http://purl.obolibrary.org/obo/UBERON_0011391 perineal nerve 'perineal nerve' SubClassOf 'pelvis nerve' http://purl.obolibrary.org/obo/UBERON_0011390 pudendal nerve 'pudendal nerve' SubClassOf 'pelvis nerve' http://purl.obolibrary.org/obo/UBERON_0035371 retroperitoneal lymph node 'retroperitoneal lymph node' SubClassOf 'lymph node' http://purl.obolibrary.org/obo/UBERON_0011384 superior pancreaticoduodenal vein 'superior pancreaticoduodenal vein' SubClassOf 'pancreaticoduodenal vein' http://purl.obolibrary.org/obo/UBERON_0035374 small cardiac vein 'small cardiac vein' SubClassOf 'cardiac vein' http://purl.obolibrary.org/obo/UBERON_0011383 inferior pancreaticoduodenal vein 'inferior pancreaticoduodenal vein' SubClassOf 'pancreaticoduodenal vein' http://purl.obolibrary.org/obo/UBERON_0011388 male bulbospongiosus muscle 'male bulbospongiosus muscle' SubClassOf 'bulbospongiosus muscle' http://purl.obolibrary.org/obo/UBERON_0011389 bulbospongiosus muscle 'bulbospongiosus muscle' SubClassOf 'perineal muscle' http://purl.obolibrary.org/obo/UBERON_0011387 constrictor vulvae muscle 'constrictor vulvae muscle' SubClassOf 'bulbospongiosus muscle' http://purl.obolibrary.org/obo/UBERON_0035350 branch of middle cerebral artery 'branch of middle cerebral artery' SubClassOf 'head blood vessel' 'branch of middle cerebral artery' SubClassOf 'systemic artery' http://purl.obolibrary.org/obo/UBERON_0035359 branch of brachial artery 'branch of brachial artery' SubClassOf 'artery' http://purl.obolibrary.org/obo/MONDO_0005411 gallbladder cancer 'gallbladder cancer' SubClassOf 'digestive system cancer' 'gallbladder cancer' SubClassOf 'gallbladder neoplasm' http://purl.obolibrary.org/obo/UBERON_0035322 right common iliac artery 'right common iliac artery' SubClassOf 'common iliac artery' http://purl.obolibrary.org/obo/UBERON_0011359 urophysis 'urophysis' SubClassOf 'neuroendocrine gland' http://purl.obolibrary.org/obo/UBERON_0035338 sphenoparietal sinus 'sphenoparietal sinus' SubClassOf 'paired venous dural sinus' http://purl.obolibrary.org/obo/UBERON_0011371 sternocephalicus muscle 'sternocephalicus muscle' SubClassOf 'skeletal muscle organ' http://purl.obolibrary.org/obo/UBERON_0011375 skin of prepuce of clitoris 'skin of prepuce of clitoris' SubClassOf 'skin of clitoris' http://purl.obolibrary.org/obo/UBERON_0035304 branch of ulnar artery 'branch of ulnar artery' SubClassOf 'artery' http://purl.obolibrary.org/obo/UBERON_0035307 branch of vertebral artery 'branch of vertebral artery' SubClassOf 'systemic artery' http://purl.obolibrary.org/obo/UBERON_0011362 cranial blood vasculature 'cranial blood vasculature' SubClassOf 'vasculature of head' 'cranial blood vasculature' SubClassOf 'blood vasculature' http://purl.obolibrary.org/obo/UBERON_0011363 cranial lymph vasculature 'cranial lymph vasculature' SubClassOf 'vasculature of head' 'cranial lymph vasculature' SubClassOf 'lymph vasculature' http://purl.obolibrary.org/obo/UBERON_0011366 cleidobrachialis muscle 'cleidobrachialis muscle' SubClassOf 'muscle of shoulder' http://purl.obolibrary.org/obo/UBERON_0011364 cleidocephalicus muscle 'cleidocephalicus muscle' SubClassOf 'skeletal muscle organ' http://purl.obolibrary.org/obo/UBERON_0011368 brachiocephalic muscle 'brachiocephalic muscle' SubClassOf 'muscle of shoulder' http://purl.obolibrary.org/obo/UBERON_0011369 omotransversarius muscle 'omotransversarius muscle' SubClassOf 'skeletal muscle organ' http://purl.obolibrary.org/obo/MONDO_0005499 brain glioma 'brain glioma' SubClassOf 'malignant glioma' 'brain glioma' SubClassOf 'brain cancer' http://purl.obolibrary.org/obo/UBERON_6003559 adult nervous system 'adult nervous system' SubClassOf 'nervous system' http://purl.obolibrary.org/obo/UBERON_0035380 branch of anterior cerebral artery 'branch of anterior cerebral artery' SubClassOf 'systemic artery' 'branch of anterior cerebral artery' SubClassOf 'head blood vessel' 'branch of anterior cerebral artery' DisjointWith 'branch of posterior cerebral artery' http://purl.obolibrary.org/obo/UBERON_0035392 cystic vein 'cystic vein' SubClassOf 'vein' http://purl.obolibrary.org/obo/UBERON_0035395 branch of left coronary artery 'branch of left coronary artery' SubClassOf 'heart blood vessel' 'branch of left coronary artery' SubClassOf 'systemic artery' http://purl.obolibrary.org/obo/UBERON_0035398 branch of external carotid artery 'branch of external carotid artery' SubClassOf 'systemic artery' http://purl.obolibrary.org/obo/MONDO_0042485 infective arthritis 'infective arthritis' EquivalentTo 'arthritis' and ('realized in response to stimulus' some 'infectious disease') 'infective arthritis' SubClassOf 'arthritis' 'infective arthritis' SubClassOf 'realized in response to stimulus' some 'infectious disease' http://purl.obolibrary.org/obo/MONDO_0042488 Cestode infectious disease 'Cestode infectious disease' SubClassOf 'Helminthiasis' http://purl.obolibrary.org/obo/MONDO_0042484 disseminated sporotrichosis 'disseminated sporotrichosis' SubClassOf 'systemic mycosis' 'disseminated sporotrichosis' EquivalentTo 'sporotrichosis' and ('has modifier' some 'disseminated') 'disseminated sporotrichosis' SubClassOf 'sporotrichosis' http://purl.obolibrary.org/obo/MONDO_0042489 disease susceptibility 'disease susceptibility' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/UBERON_6003626 supraesophageal ganglion 'supraesophageal ganglion' SubClassOf 'ganglion of central nervous system' http://purl.obolibrary.org/obo/UBERON_6003624 adult brain 'adult brain' SubClassOf 'brain' http://purl.obolibrary.org/obo/MONDO_0042493 gastric non-hodgkin lymphoma 'gastric non-hodgkin lymphoma' SubClassOf 'gastric lymphoma' 'gastric non-hodgkin lymphoma' SubClassOf 'non-Hodgkins lymphoma' http://purl.obolibrary.org/obo/UBERON_6003623 adult central nervous system 'adult central nervous system' SubClassOf 'central nervous system' http://purl.obolibrary.org/obo/UBERON_2005135 primary dental epithelium 'primary dental epithelium' SubClassOf 'dental epithelium' http://purl.obolibrary.org/obo/UBERON_2005121 middle lateral line placode 'middle lateral line placode' SubClassOf 'dorsolateral placode' http://purl.obolibrary.org/obo/UBERON_2005126 intestinal bulb epithelium 'intestinal bulb epithelium' SubClassOf 'intestinal epithelium' http://purl.obolibrary.org/obo/UBERON_2005113 dorsal lateral line neuromast 'dorsal lateral line neuromast' SubClassOf 'neuromast' http://purl.obolibrary.org/obo/UBERON_2005116 secondary posterior lateral line primordium 'secondary posterior lateral line primordium' SubClassOf 'posterior lateral line primordium' http://purl.obolibrary.org/obo/UBERON_2005114 middle lateral line system 'middle lateral line system' SubClassOf 'lateral line system' http://purl.obolibrary.org/obo/UBERON_2005115 primary posterior lateral line primordium 'primary posterior lateral line primordium' SubClassOf 'posterior lateral line primordium' http://purl.obolibrary.org/obo/UBERON_2005101 interray vessel 'interray vessel' SubClassOf 'appendage vasculature' http://purl.obolibrary.org/obo/UBERON_2005102 presumptive median fin fold 'presumptive median fin fold' SubClassOf 'presumptive structure' http://purl.obolibrary.org/obo/UBERON_2005100 intervessel commissure 'intervessel commissure' SubClassOf 'appendage vasculature' http://purl.obolibrary.org/obo/UBERON_2005106 longitudinal lateral lymphatic vessel 'longitudinal lateral lymphatic vessel' SubClassOf 'lymph vasculature' http://purl.obolibrary.org/obo/UBERON_2005104 presumptive dorsal fin fold 'presumptive dorsal fin fold' SubClassOf 'presumptive median fin fold' http://purl.obolibrary.org/obo/UBERON_2005170 extrahepatic duct 'extrahepatic duct' SubClassOf 'bile duct' http://purl.obolibrary.org/obo/UBERON_0035403 hypophysial artery 'hypophysial artery' SubClassOf 'artery' http://purl.obolibrary.org/obo/UBERON_0035404 superior hypophysial artery 'superior hypophysial artery' SubClassOf 'hypophysial artery' 'superior hypophysial artery' SubClassOf 'head blood vessel' 'superior hypophysial artery' SubClassOf 'systemic artery' http://purl.obolibrary.org/obo/UBERON_0035410 left inguinal part of abdomen 'left inguinal part of abdomen' SubClassOf 'inguinal part of abdomen' http://purl.obolibrary.org/obo/UBERON_0035419 anterior longitudinal ligament 'anterior longitudinal ligament' SubClassOf 'ligament of vertebral column' 'posterior longitudinal ligament' DisjointWith 'anterior longitudinal ligament' http://purl.obolibrary.org/obo/UBERON_2005144 ampullary nerve 'ampullary nerve' SubClassOf 'nerve of head region' http://purl.obolibrary.org/obo/UBERON_0011274 nail of manual digit 2 'nail of manual digit 2' SubClassOf 'nail of manual digit' http://purl.obolibrary.org/obo/UBERON_0011275 nail of manual digit 3 'nail of manual digit 3' SubClassOf 'nail of manual digit' http://purl.obolibrary.org/obo/UBERON_0011272 embryonic skin basal layer 'embryonic skin basal layer' SubClassOf 'ecto-epithelium' 'embryonic skin basal layer' SubClassOf 'unilaminar epithelium' http://purl.obolibrary.org/obo/UBERON_0011273 nail of manual digit 1 'nail of manual digit 1' SubClassOf 'nail of manual digit' http://purl.obolibrary.org/obo/UBERON_0011278 nail of pedal digit 1 'nail of pedal digit 1' SubClassOf 'nail of pedal digit' http://purl.obolibrary.org/obo/UBERON_0011279 nail of pedal digit 2 'nail of pedal digit 2' SubClassOf 'nail of pedal digit' http://purl.obolibrary.org/obo/UBERON_0035246 posterior longitudinal ligament 'posterior longitudinal ligament' SubClassOf 'ligament of vertebral column' 'posterior longitudinal ligament' DisjointWith 'anterior longitudinal ligament' http://purl.obolibrary.org/obo/UBERON_0011276 nail of manual digit 4 'nail of manual digit 4' SubClassOf 'nail of manual digit' http://purl.obolibrary.org/obo/UBERON_0011277 nail of manual digit 5 'nail of manual digit 5' SubClassOf 'nail of manual digit' http://purl.obolibrary.org/obo/UBERON_0035249 posterior external jugular vein 'posterior external jugular vein' SubClassOf 'craniocervical region vein' 'anterior jugular vein' DisjointWith 'posterior external jugular vein' 'posterior external jugular vein' SubClassOf 'neck blood vessel' http://purl.obolibrary.org/obo/UBERON_0011263 femoral gland 'femoral gland' SubClassOf 'exocrine gland of integumental system' http://purl.obolibrary.org/obo/UBERON_0035252 left subcostal vein 'left subcostal vein' SubClassOf 'subcostal vein' http://purl.obolibrary.org/obo/UBERON_0011267 quadratojugal bone 'quadratojugal bone' SubClassOf 'intramembranous bone' 'quadratojugal bone' SubClassOf 'bone of upper jaw' 'quadratojugal bone' SubClassOf 'dermal bone' http://purl.obolibrary.org/obo/UBERON_0011265 carpometacarpal joint of digit 1 'carpometacarpal joint of digit 1' SubClassOf 'carpometacarpal joint' http://purl.obolibrary.org/obo/UBERON_0035222 posterior parietal artery 'posterior parietal artery' SubClassOf 'branch of middle cerebral artery' 'posterior parietal artery' DisjointWith 'anterior parietal artery' http://purl.obolibrary.org/obo/UBERON_0035225 anterior temporal artery 'anterior temporal artery' SubClassOf 'temporal artery' 'anterior temporal artery' SubClassOf 'branch of middle cerebral artery' 'anterior temporal artery' DisjointWith 'posterior temporal artery' http://purl.obolibrary.org/obo/UBERON_0011281 nail of pedal digit 4 'nail of pedal digit 4' SubClassOf 'nail of pedal digit' http://purl.obolibrary.org/obo/UBERON_0011282 nail of pedal digit 5 'nail of pedal digit 5' SubClassOf 'nail of pedal digit' http://purl.obolibrary.org/obo/UBERON_0011280 nail of pedal digit 3 'nail of pedal digit 3' SubClassOf 'nail of pedal digit' http://purl.obolibrary.org/obo/UBERON_0035231 superficial middle cerebral vein 'superficial middle cerebral vein' SubClassOf 'cerebral vein' http://purl.obolibrary.org/obo/UBERON_0035234 medial circumflex femoral vein 'medial circumflex femoral vein' SubClassOf 'hindlimb blood vessel' 'medial circumflex femoral vein' SubClassOf 'vein' http://purl.obolibrary.org/obo/UBERON_0035237 branch of internal carotid artery 'branch of internal carotid artery' SubClassOf 'head blood vessel' 'branch of internal carotid artery' SubClassOf 'carotid artery' http://purl.obolibrary.org/obo/MONDO_0019927 growth hormone-producing pituitary gland neoplasm 'growth hormone-producing pituitary gland neoplasm' SubClassOf 'pituitary tumor' 'growth hormone-producing pituitary gland neoplasm' SubClassOf 'epithelial neoplasm' http://purl.obolibrary.org/obo/UBERON_0035201 gastrocolic ligament 'gastrocolic ligament' SubClassOf 'fold of peritoneum' http://purl.obolibrary.org/obo/UBERON_0035204 occipital lymph node 'occipital lymph node' SubClassOf 'lymph node of head' 'occipital lymph node' SubClassOf 'superficial lymph node' http://purl.obolibrary.org/obo/UBERON_0011238 mesethmoid bone 'mesethmoid bone' SubClassOf 'neurocranium bone' 'mesethmoid bone' SubClassOf 'endochondral bone' http://purl.obolibrary.org/obo/UBERON_0035207 deep fibular nerve 'deep fibular nerve' SubClassOf 'fibular nerve' 'deep fibular nerve' SubClassOf 'leg nerve' http://purl.obolibrary.org/obo/MONDO_0019937 rare gynecologic or obstetric disease 'rare gynecologic or obstetric disease' SubClassOf 'has modifier' some 'rare' 'rare gynecologic or obstetric disease' SubClassOf 'female reproductive system disease' http://purl.obolibrary.org/obo/MONDO_0007966 susceptibility to uveal melanoma 'susceptibility to uveal melanoma' SubClassOf 'predisposes towards' some 'Uveal Melanoma' 'susceptibility to uveal melanoma' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'Uveal Melanoma') 'susceptibility to uveal melanoma' SubClassOf 'inherited disease susceptibility' http://purl.obolibrary.org/obo/UBERON_0035219 parasternal lymph node 'parasternal lymph node' SubClassOf 'thoracic lymph node' http://purl.obolibrary.org/obo/MONDO_0044919 malignant renal pelvis neoplasm 'malignant renal pelvis neoplasm' SubClassOf 'kidney cancer' 'malignant renal pelvis neoplasm' SubClassOf 'renal pelvis neoplasm' http://purl.obolibrary.org/obo/MONDO_0020950 viral eye infection 'viral eye infection' SubClassOf 'viral disease' 'viral eye infection' SubClassOf 'eye infectious disease' http://purl.obolibrary.org/obo/UBERON_0011252 scent gland 'scent gland' SubClassOf 'exocrine gland' http://purl.obolibrary.org/obo/UBERON_0011253 gland of anal sac 'gland of anal sac' SubClassOf 'gland of digestive tract' 'gland of anal sac' SubClassOf 'scent gland' http://purl.obolibrary.org/obo/UBERON_0011250 autopod bone 'autopod bone' SubClassOf 'limb bone' http://purl.obolibrary.org/obo/UBERON_0011251 levator claviculae muscle 'levator claviculae muscle' SubClassOf 'muscle of neck' 'levator claviculae muscle' SubClassOf 'axial muscle' 'levator claviculae muscle' SubClassOf 'muscle of vertebral column' http://purl.obolibrary.org/obo/MONDO_0019956 encephalitis 'encephalitis' SubClassOf 'acute disease' 'encephalitis' SubClassOf 'brain inflammatory disease' http://purl.obolibrary.org/obo/UBERON_0011246 procoracoid bone 'procoracoid bone' SubClassOf 'pectoral girdle bone' 'procoracoid bone' SubClassOf 'endochondral bone' http://purl.obolibrary.org/obo/MONDO_0020947 parasitic eye infection 'parasitic eye infection' SubClassOf 'parasitic infection' 'parasitic eye infection' SubClassOf 'eye infectious disease' http://purl.obolibrary.org/obo/MONDO_0019964 thymic neuroendocrine tumor 'thymic neuroendocrine tumor' SubClassOf 'neuroendocrine neoplasm' 'thymic neuroendocrine tumor' SubClassOf 'thymus neoplasm' http://purl.obolibrary.org/obo/MONDO_0019962 thyroid lymphoma 'thyroid lymphoma' SubClassOf 'primary organ-specific lymphoma' 'thyroid lymphoma' SubClassOf 'thyroid cancer' http://purl.obolibrary.org/obo/UBERON_6001056 presumptive embryonic/larval central nervous system 'presumptive embryonic/larval central nervous system' SubClassOf 'presumptive embryonic/larval system' http://purl.obolibrary.org/obo/UBERON_6001055 presumptive embryonic/larval nervous system 'presumptive embryonic/larval nervous system' SubClassOf 'presumptive embryonic/larval system' http://purl.obolibrary.org/obo/UBERON_6001057 neurogenic region 'neurogenic region' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/MONDO_0044925 oral cavity carcinoma 'oral cavity carcinoma' SubClassOf 'oral cavity cancer' 'oral cavity carcinoma' SubClassOf 'Digestive System Carcinoma' 'oral cavity carcinoma' SubClassOf 'lip and oral cavity carcinoma' http://purl.obolibrary.org/obo/MONDO_0044926 oropharyngeal carcinoma 'oropharyngeal carcinoma' SubClassOf 'oropharynx cancer' 'oropharyngeal carcinoma' SubClassOf 'carcinoma of pharynx' 'oropharyngeal carcinoma' SubClassOf 'head and neck carcinoma' http://purl.obolibrary.org/obo/MONDO_0044937 rectal carcinoma 'rectal carcinoma' SubClassOf 'epithelial neoplasm of rectum' 'rectal carcinoma' SubClassOf 'colorectal carcinoma' 'rectal carcinoma' SubClassOf 'rectum cancer' http://purl.obolibrary.org/obo/MONDO_0017342 Epstein-Barr virus-related tumor 'Epstein-Barr virus-related tumor' SubClassOf 'virus associated tumor' http://purl.obolibrary.org/obo/MONDO_0017343 Epstein-Barr virus-associated malignant lymphoproliferative disorder 'Epstein-Barr virus-associated malignant lymphoproliferative disorder' SubClassOf 'Epstein-Barr virus-related tumor' http://purl.obolibrary.org/obo/MONDO_0017345 Epstein-Barr virus-associated mesenchymal tumor 'Epstein-Barr virus-associated mesenchymal tumor' SubClassOf 'Epstein-Barr virus-related tumor' http://purl.obolibrary.org/obo/MONDO_0017341 virus associated tumor 'virus associated tumor' SubClassOf 'post-viral disorder' 'virus associated tumor' SubClassOf 'has modifier' some 'rare' 'virus associated tumor' SubClassOf 'neoplasm' 'virus associated tumor' EquivalentTo 'neoplasm' and ('disease arises from feature' some 'viral disease') http://purl.obolibrary.org/obo/MONDO_0044983 benign lipomatous neoplasm 'benign lipomatous neoplasm' SubClassOf 'tumor of adipose tissue' 'benign lipomatous neoplasm' SubClassOf 'benign connective and soft tissue neoplasm' http://purl.obolibrary.org/obo/MONDO_0005374 bone marrow neoplasm 'bone marrow neoplasm' SubClassOf 'hematopoietic and lymphoid system neoplasm' 'bone marrow neoplasm' SubClassOf 'bone marrow disease' http://purl.obolibrary.org/obo/MONDO_0044980 disease of signal transduction 'disease of signal transduction' SubClassOf 'disease by cellular process disrupted' http://purl.obolibrary.org/obo/MONDO_0044987 face disease 'face disease' SubClassOf 'head disease' http://purl.obolibrary.org/obo/MONDO_0044986 lymphoid system disease 'lymphoid system disease' SubClassOf 'immune system disease' http://purl.obolibrary.org/obo/MONDO_0044989 foot disease 'foot disease' SubClassOf 'limb disorder' http://purl.obolibrary.org/obo/MONDO_0017370 autoinflammatory syndrome with skin involvement 'autoinflammatory syndrome with skin involvement' SubClassOf 'systemic disease with skin involvement' 'autoinflammatory syndrome with skin involvement' EquivalentTo 'autoinflammatory syndrome' and ('disease has feature' some 'skin disease') 'autoinflammatory syndrome with skin involvement' SubClassOf 'autoinflammatory syndrome' http://purl.obolibrary.org/obo/UBERON_0035292 branch of posterior tibial artery 'branch of posterior tibial artery' SubClassOf 'hindlimb blood vessel' 'branch of posterior tibial artery' SubClassOf 'systemic artery' http://purl.obolibrary.org/obo/UBERON_0035295 left ear 'left ear' SubClassOf 'ear' http://purl.obolibrary.org/obo/MONDO_0044993 sympathetic nervous system disease 'sympathetic nervous system disease' SubClassOf 'autonomic nervous system disease' http://purl.obolibrary.org/obo/MONDO_0044996 cerebral cortex disease 'cerebral cortex disease' SubClassOf 'brain disease' http://purl.obolibrary.org/obo/MONDO_0044995 parasympathetic nervous system disease 'parasympathetic nervous system disease' SubClassOf 'autonomic nervous system disease' http://purl.obolibrary.org/obo/MONDO_0044990 hand disease 'hand disease' SubClassOf 'limb disorder' http://purl.obolibrary.org/obo/MONDO_0044992 mouth mucosa disease 'mouth mucosa disease' SubClassOf 'mouth disease' http://purl.obolibrary.org/obo/MONDO_0044991 upper digestive tract disease 'upper digestive tract disease' SubClassOf 'digestive system disease' http://purl.obolibrary.org/obo/MONDO_0017368 systemic disease with skin involvement 'systemic disease with skin involvement' SubClassOf 'disease has feature' some 'skin disease' 'systemic disease with skin involvement' EquivalentTo 'systemic disease' and ('disease has feature' some 'skin disease') 'systemic disease with skin involvement' SubClassOf 'systemic disease' http://purl.obolibrary.org/obo/MONDO_0044999 scalp disease 'scalp disease' SubClassOf 'head disease' http://purl.obolibrary.org/obo/UBERON_0035261 posterior temporal artery 'posterior temporal artery' SubClassOf 'branch of middle cerebral artery' 'anterior temporal artery' DisjointWith 'posterior temporal artery' 'posterior temporal artery' SubClassOf 'temporal artery' http://purl.obolibrary.org/obo/MONDO_0044969 disease of membrane bound organelle 'disease of membrane bound organelle' SubClassOf 'disease by cellular component affected' http://purl.obolibrary.org/obo/MONDO_0044965 abdominal and pelvic region disorder 'abdominal and pelvic region disorder' SubClassOf 'disorder by anatomical region' http://purl.obolibrary.org/obo/MONDO_0044964 oral cavity mucoepidermoid carcinoma 'oral cavity mucoepidermoid carcinoma' SubClassOf 'oral cavity carcinoma' 'oral cavity mucoepidermoid carcinoma' SubClassOf 'mucoepidermoid carcinoma' http://purl.obolibrary.org/obo/MONDO_0044967 limb disorder 'limb disorder' SubClassOf 'disorder by anatomical region' http://purl.obolibrary.org/obo/MONDO_0017375 congenital enterovirus infection 'congenital enterovirus infection' EquivalentTo 'Enterovirus infectious disease' and ('has modifier' some 'congenital') 'congenital enterovirus infection' SubClassOf 'Enterovirus infectious disease' 'congenital enterovirus infection' SubClassOf 'infectious embryofetopathy' http://purl.obolibrary.org/obo/UBERON_0035273 superior thoracic artery 'superior thoracic artery' SubClassOf 'systemic artery' http://purl.obolibrary.org/obo/MONDO_0044972 eosinophil disease 'eosinophil disease' SubClassOf 'leukocyte disease' http://purl.obolibrary.org/obo/MONDO_0044971 disease of macromolecular complex 'disease of macromolecular complex' SubClassOf 'disease by cellular component affected' http://purl.obolibrary.org/obo/MONDO_0044974 disease of supramolecular complex 'disease of supramolecular complex' SubClassOf 'disease by cellular component affected' http://purl.obolibrary.org/obo/UBERON_0035279 supraclavicular lymph node 'supraclavicular lymph node' SubClassOf 'cervical lymph node' http://purl.obolibrary.org/obo/MONDO_0044979 disease by cell type 'disease by cell type' SubClassOf 'disease by cellular component affected' http://purl.obolibrary.org/obo/MONDO_0044976 disease of catalytic activity 'disease of catalytic activity' SubClassOf 'disease by molecular activity disrupted' http://purl.obolibrary.org/obo/MONDO_0044975 disease of transporter activity 'disease of transporter activity' SubClassOf 'disease by molecular activity disrupted' http://purl.obolibrary.org/obo/MONDO_0044977 disease of receptor activity 'disease of receptor activity' SubClassOf 'disease by molecular activity disrupted' 'disease of receptor activity' SubClassOf 'disease of signal transduction' http://purl.obolibrary.org/obo/UBERON_0001901 epithelium of trachea 'epithelium of trachea' SubClassOf 'lower respiratory tract epithelium' http://purl.obolibrary.org/obo/MONDO_0017398 3MC syndrome '3MC syndrome' SubClassOf 'Rare genetic neurological disorder' '3MC syndrome' SubClassOf 'congenital nervous system disorder' '3MC syndrome' SubClassOf 'syndromic intellectual disability' '3MC syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0017396 toxic dermatosis 'toxic dermatosis' SubClassOf 'has modifier' some 'rare' 'toxic dermatosis' SubClassOf 'skin disease' http://purl.obolibrary.org/obo/UBERON_0001913 milk 'milk' SubClassOf 'bodily fluid' http://purl.obolibrary.org/obo/UBERON_0001915 endothelium of capillary 'endothelium of capillary' SubClassOf 'blood vessel endothelium' http://purl.obolibrary.org/obo/UBERON_0001916 endothelium of arteriole 'endothelium of arteriole' SubClassOf 'arterial system endothelium' 'endothelium of arteriole' SubClassOf 'blood vessel endothelium' http://purl.obolibrary.org/obo/UBERON_0001917 endothelium of artery 'endothelium of artery' SubClassOf 'endothelial tube' 'endothelium of artery' SubClassOf 'arterial system endothelium' 'endothelium of artery' SubClassOf 'blood vessel endothelium' http://purl.obolibrary.org/obo/UBERON_0001918 endothelium of venule 'endothelium of venule' SubClassOf 'blood vessel endothelium' 'endothelium of venule' SubClassOf 'venous system endothelium' http://purl.obolibrary.org/obo/UBERON_0001919 endothelium of vein 'endothelium of vein' SubClassOf 'venous system endothelium' 'endothelium of vein' SubClassOf 'blood vessel endothelium' http://purl.obolibrary.org/obo/UBERON_2005013 concurrent branch afferent branchial artery 'concurrent branch afferent branchial artery' SubClassOf 'head blood vessel' 'concurrent branch afferent branchial artery' SubClassOf 'respiratory system artery' http://purl.obolibrary.org/obo/UBERON_2005014 recurrent branch afferent branchial artery 'recurrent branch afferent branchial artery' SubClassOf 'respiratory system artery' 'recurrent branch afferent branchial artery' SubClassOf 'head blood vessel' http://purl.obolibrary.org/obo/UBERON_2005011 pseudobranchial artery 'pseudobranchial artery' SubClassOf 'artery' http://purl.obolibrary.org/obo/UBERON_2005012 afferent filamental artery 'afferent filamental artery' SubClassOf 'head blood vessel' 'afferent filamental artery' SubClassOf 'respiratory system artery' http://purl.obolibrary.org/obo/UBERON_2005018 efferent filamental artery 'efferent filamental artery' SubClassOf 'respiratory system artery' 'efferent filamental artery' SubClassOf 'head blood vessel' 'efferent filamental artery' SubClassOf 'venous blood vessel' http://purl.obolibrary.org/obo/UBERON_2005015 afferent lamellar arteriole 'afferent lamellar arteriole' SubClassOf 'respiratory system artery' 'afferent lamellar arteriole' SubClassOf 'head blood vessel' http://purl.obolibrary.org/obo/UBERON_2005019 efferent lamellar arteriole 'efferent lamellar arteriole' SubClassOf 'head blood vessel' 'efferent lamellar arteriole' SubClassOf 'venous blood vessel' 'efferent lamellar arteriole' SubClassOf 'respiratory system artery' http://purl.obolibrary.org/obo/UBERON_2005000 basal communicating artery 'basal communicating artery' SubClassOf 'head blood vessel' 'basal communicating artery' SubClassOf 'artery' http://purl.obolibrary.org/obo/UBERON_2005050 palatocerebral artery 'palatocerebral artery' SubClassOf 'artery' http://purl.obolibrary.org/obo/UBERON_0001985 corneal endothelium 'corneal endothelium' SubClassOf 'endothelium' 'corneal endothelium' SubClassOf 'eye epithelium' http://purl.obolibrary.org/obo/UBERON_2005053 nasal ciliary artery 'nasal ciliary artery' SubClassOf 'artery' http://purl.obolibrary.org/obo/UBERON_2005054 inner optic circle 'inner optic circle' SubClassOf 'vasculature of eye' http://purl.obolibrary.org/obo/UBERON_2005051 communicating vessel palatocerebral artery 'communicating vessel palatocerebral artery' SubClassOf 'artery' http://purl.obolibrary.org/obo/UBERON_0001988 feces 'feces' SubClassOf 'excreta' http://purl.obolibrary.org/obo/UBERON_2005052 anterior mesencephalic central artery 'anterior mesencephalic central artery' SubClassOf 'central artery' http://purl.obolibrary.org/obo/UBERON_2005055 median palatocerebral vein 'median palatocerebral vein' SubClassOf 'head blood vessel' 'median palatocerebral vein' SubClassOf 'craniocervical region vein' http://purl.obolibrary.org/obo/UBERON_2005056 palatocerebral vein 'palatocerebral vein' SubClassOf 'craniocervical region vein' 'palatocerebral vein' SubClassOf 'head blood vessel' http://purl.obolibrary.org/obo/UBERON_0011311 hyoepiglottic ligament 'hyoepiglottic ligament' SubClassOf 'extrinsic ligament of larynx' http://purl.obolibrary.org/obo/UBERON_0011312 hyoepiglottic muscle 'hyoepiglottic muscle' SubClassOf 'muscle of larynx' http://purl.obolibrary.org/obo/UBERON_0011315 digastric branch of facial nerve 'digastric branch of facial nerve' SubClassOf 'nerve of head region' http://purl.obolibrary.org/obo/UBERON_0011316 nerve to stylohyoid from facial nerve 'nerve to stylohyoid from facial nerve' SubClassOf 'nerve of head region' http://purl.obolibrary.org/obo/UBERON_0011317 nerve to stylopharyngeus from glossopharyngeal nerve 'nerve to stylopharyngeus from glossopharyngeal nerve' SubClassOf 'nerve of head region' http://purl.obolibrary.org/obo/UBERON_0001983 crypt of Lieberkuhn 'crypt of Lieberkuhn' SubClassOf 'intestinal gland' http://purl.obolibrary.org/obo/UBERON_0001984 crypt of Lieberkuhn of large intestine 'crypt of Lieberkuhn of large intestine' SubClassOf 'crypt of Lieberkuhn' http://purl.obolibrary.org/obo/UBERON_0001980 arteriole 'arteriole' SubClassOf 'arterial blood vessel' http://purl.obolibrary.org/obo/UBERON_0001998 sternocostal joint 'sternocostal joint' SubClassOf 'synovial joint' 'sternocostal joint' SubClassOf 'joint of rib' http://purl.obolibrary.org/obo/UBERON_2005044 optic artery 'optic artery' SubClassOf 'artery' 'optic artery' SubClassOf 'head blood vessel' http://purl.obolibrary.org/obo/UBERON_0011301 manubrium sternum pre-cartilage condensation 'manubrium sternum pre-cartilage condensation' SubClassOf 'trunk mesenchyme' http://purl.obolibrary.org/obo/UBERON_2005048 primitive prosencephalic artery 'primitive prosencephalic artery' SubClassOf 'artery' http://purl.obolibrary.org/obo/UBERON_2005049 prosencephalic artery 'prosencephalic artery' SubClassOf 'artery' http://purl.obolibrary.org/obo/UBERON_0001990 middle cervical ganglion 'middle cervical ganglion' SubClassOf 'cervical ganglion' http://purl.obolibrary.org/obo/UBERON_0001991 cervical ganglion 'cervical ganglion' SubClassOf 'paravertebral ganglion' http://purl.obolibrary.org/obo/UBERON_2005031 dorsal longitudinal vein 'dorsal longitudinal vein' SubClassOf 'brain blood vessel' 'dorsal longitudinal vein' SubClassOf 'vein' http://purl.obolibrary.org/obo/UBERON_2005032 optic vein 'optic vein' SubClassOf 'head blood vessel' 'optic vein' SubClassOf 'craniocervical region vein' http://purl.obolibrary.org/obo/UBERON_2005030 dorsal ciliary vein 'dorsal ciliary vein' SubClassOf 'craniocervical region vein' 'dorsal ciliary vein' SubClassOf 'head blood vessel' http://purl.obolibrary.org/obo/UBERON_2005036 supraintestinal artery 'supraintestinal artery' SubClassOf 'artery' http://purl.obolibrary.org/obo/UBERON_2005038 supraintestinal vein 'supraintestinal vein' SubClassOf 'vein' 'supraintestinal vein' SubClassOf 'trunk blood vessel' http://purl.obolibrary.org/obo/UBERON_2005020 central artery 'central artery' SubClassOf 'brain blood vessel' http://purl.obolibrary.org/obo/UBERON_2005021 cerebellar central artery 'cerebellar central artery' SubClassOf 'central artery' http://purl.obolibrary.org/obo/UBERON_2005022 opercular artery 'opercular artery' SubClassOf 'artery' http://purl.obolibrary.org/obo/UBERON_0011322 mylohyoid nerve 'mylohyoid nerve' SubClassOf 'nerve' http://purl.obolibrary.org/obo/UBERON_0011320 ligament of temporomandibular joint 'ligament of temporomandibular joint' SubClassOf 'skeletal ligament' http://purl.obolibrary.org/obo/UBERON_2005026 primary head sinus 'primary head sinus' SubClassOf 'craniocervical region vein' 'primary head sinus' SubClassOf 'head blood vessel' http://purl.obolibrary.org/obo/UBERON_2005027 posterior cerebral vein 'anterior cerebral vein' DisjointWith 'posterior cerebral vein' 'posterior cerebral vein' SubClassOf 'head blood vessel' 'posterior cerebral vein' SubClassOf 'craniocervical region vein' http://purl.obolibrary.org/obo/UBERON_0011321 masseteric nerve 'masseteric nerve' SubClassOf 'nerve of head region' http://purl.obolibrary.org/obo/UBERON_0011326 superior laryngeal nerve 'superior laryngeal nerve' SubClassOf 'laryngeal nerve' 'superior laryngeal nerve' SubClassOf 'nerve of head region' http://purl.obolibrary.org/obo/UBERON_0011327 deep temporal nerve 'deep temporal nerve' SubClassOf 'nerve of head region' http://purl.obolibrary.org/obo/UBERON_2005097 caudal fin vasculature 'caudal fin vasculature' SubClassOf 'appendage vasculature' http://purl.obolibrary.org/obo/UBERON_2005098 central ray artery 'central ray artery' SubClassOf 'appendage vasculature' http://purl.obolibrary.org/obo/UBERON_2005099 ray vein 'ray vein' SubClassOf 'appendage vasculature' http://purl.obolibrary.org/obo/UBERON_0001949 gingival epithelium 'gingival epithelium' SubClassOf 'oral epithelium' 'gingival epithelium' SubClassOf 'jaw epithelium' 'gingival epithelium' SubClassOf 'stratified squamous epithelium' http://purl.obolibrary.org/obo/UBERON_2005082 dorsal branch nasal ciliary artery 'dorsal branch nasal ciliary artery' SubClassOf 'artery' http://purl.obolibrary.org/obo/UBERON_2005083 ventral branch nasal ciliary artery 'ventral branch nasal ciliary artery' SubClassOf 'artery' http://purl.obolibrary.org/obo/UBERON_0001958 terminal bronchiole epithelium 'terminal bronchiole epithelium' SubClassOf 'epithelium of bronchiole' http://purl.obolibrary.org/obo/UBERON_2005080 anterior mesenteric artery 'anterior mesenteric artery' SubClassOf 'mesenteric artery' http://purl.obolibrary.org/obo/UBERON_0001952 epithelium of oropharynx 'epithelium of oropharynx' SubClassOf 'gastrointestinal system epithelium' 'epithelium of oropharynx' SubClassOf 'pharyngeal epithelium' http://purl.obolibrary.org/obo/UBERON_2005087 pectoral vein 'pectoral vein' SubClassOf 'vein' 'pectoral vein' SubClassOf 'pectoral appendage blood vessel' http://purl.obolibrary.org/obo/UBERON_2005084 metencephalic artery 'metencephalic artery' SubClassOf 'artery' http://purl.obolibrary.org/obo/UBERON_0001955 epithelium of respiratory bronchiole 'epithelium of respiratory bronchiole' SubClassOf 'epithelium of bronchiole' http://purl.obolibrary.org/obo/UBERON_2005085 nasal artery 'nasal artery' SubClassOf 'artery' http://purl.obolibrary.org/obo/UBERON_2005088 posterior mesenteric artery 'posterior mesenteric artery' SubClassOf 'mesenteric artery' http://purl.obolibrary.org/obo/UBERON_2005089 swim bladder artery 'swim bladder artery' SubClassOf 'artery' http://purl.obolibrary.org/obo/UBERON_0001951 epithelium of nasopharynx 'epithelium of nasopharynx' SubClassOf 'pharyngeal epithelium' 'epithelium of nasopharynx' SubClassOf 'upper respiratory tract epithelium' http://purl.obolibrary.org/obo/UBERON_0001963 bronchial-associated lymphoid tissue 'bronchial-associated lymphoid tissue' SubClassOf 'mucosa-associated lymphoid tissue' http://purl.obolibrary.org/obo/UBERON_2005075 peripheral cardiac conduction system 'peripheral cardiac conduction system' SubClassOf 'heart conduction system' http://purl.obolibrary.org/obo/UBERON_0001964 least splanchnic nerve 'least splanchnic nerve' SubClassOf 'thoracic splanchnic nerve' http://purl.obolibrary.org/obo/UBERON_2005074 central cardiac conduction system 'central cardiac conduction system' SubClassOf 'heart conduction system' http://purl.obolibrary.org/obo/UBERON_2005079 posterior mesencephalic central artery 'posterior mesencephalic central artery' SubClassOf 'central artery' http://purl.obolibrary.org/obo/UBERON_2005078 middle mesencephalic central artery 'middle mesencephalic central artery' SubClassOf 'central artery' http://purl.obolibrary.org/obo/UBERON_0001961 mucosa-associated lymphoid tissue 'mucosa-associated lymphoid tissue' SubClassOf 'epithelium-associated lymphoid tissue' http://purl.obolibrary.org/obo/UBERON_0001962 gut-associated lymphoid tissue 'gut-associated lymphoid tissue' SubClassOf 'mucosa-associated lymphoid tissue' http://purl.obolibrary.org/obo/UBERON_0001979 venule 'venule' SubClassOf 'venous blood vessel' http://purl.obolibrary.org/obo/UBERON_0011151 jaw depressor muscle 'jaw depressor muscle' SubClassOf 'hyoid muscle' http://purl.obolibrary.org/obo/UBERON_0035122 interincisive suture 'interincisive suture' SubClassOf 'suture' http://purl.obolibrary.org/obo/UBERON_0035123 palatomaxillary suture 'palatomaxillary suture' SubClassOf 'suture' http://purl.obolibrary.org/obo/UBERON_0011157 cuneiform cartilage 'cuneiform cartilage' SubClassOf 'laryngeal cartilage' http://purl.obolibrary.org/obo/UBERON_0035124 palatoethmoidal suture 'palatoethmoidal suture' SubClassOf 'suture' http://purl.obolibrary.org/obo/UBERON_0035126 transverse palatine suture 'transverse palatine suture' SubClassOf 'suture' http://purl.obolibrary.org/obo/UBERON_0035127 suture of hard palate 'suture of hard palate' SubClassOf 'cranial suture' http://purl.obolibrary.org/obo/UBERON_0035131 auditory ossicle cartilage element 'auditory ossicle cartilage element' SubClassOf 'pharyngeal arch cartilage' http://purl.obolibrary.org/obo/UBERON_0011147 Verson's gland 'Verson's gland' SubClassOf 'exocrine gland of integumental system' http://purl.obolibrary.org/obo/UBERON_0011144 adductor muscle of hip 'adductor muscle of hip' SubClassOf 'adductor muscle' 'adductor muscle of hip' SubClassOf 'pelvic complex muscle' http://purl.obolibrary.org/obo/UBERON_0011145 adductor muscle 'adductor muscle' SubClassOf 'skeletal muscle organ' http://purl.obolibrary.org/obo/UBERON_0011148 submucosal gland 'submucosal gland' SubClassOf 'respiratory system gland' 'submucosal gland' SubClassOf 'mucous gland' http://purl.obolibrary.org/obo/UBERON_0011149 Marshall's gland 'Marshall's gland' SubClassOf 'exocrine gland' http://purl.obolibrary.org/obo/MONDO_0007806 hypotrichosis 4 'hypotrichosis 4' SubClassOf 'Marie Unna hereditary hypotrichosis' http://purl.obolibrary.org/obo/UBERON_0011171 joint connecting upper and lower jaws 'joint connecting upper and lower jaws' SubClassOf 'synovial joint' http://purl.obolibrary.org/obo/UBERON_0011170 quadrate-articular joint 'quadrate-articular joint' SubClassOf 'joint connecting upper and lower jaws' http://purl.obolibrary.org/obo/UBERON_0035100 retractor penis magnus muscle 'retractor penis magnus muscle' SubClassOf 'extrinsic post-anal tail muscle' http://purl.obolibrary.org/obo/UBERON_0035103 perineal body smooth muscle muscle tissue 'perineal body smooth muscle muscle tissue' SubClassOf 'anal region smooth muscle' http://purl.obolibrary.org/obo/UBERON_0035109 plantar nerve 'plantar nerve' SubClassOf 'leg nerve' http://purl.obolibrary.org/obo/UBERON_0011160 nasal suture 'nasal suture' SubClassOf 'facial suture' http://purl.obolibrary.org/obo/UBERON_0011161 spheno-occipital synchondrosis 'spheno-occipital synchondrosis' SubClassOf 'cranial synchondrosis' http://purl.obolibrary.org/obo/UBERON_0011164 neurocranium bone 'neurocranium bone' SubClassOf 'cranial bone' http://purl.obolibrary.org/obo/UBERON_0011165 crico-esophageal tendon 'crico-esophageal tendon' SubClassOf 'nonskeletal ligament' http://purl.obolibrary.org/obo/UBERON_0035110 lateral plantar nerve 'lateral plantar nerve' DisjointWith 'medial plantar nerve' 'lateral plantar nerve' SubClassOf 'plantar nerve' http://purl.obolibrary.org/obo/UBERON_0011162 supraoccipital cartilage element 'supraoccipital cartilage element' SubClassOf 'cartilage element of chondrocranium' http://purl.obolibrary.org/obo/UBERON_0035111 medial plantar nerve 'lateral plantar nerve' DisjointWith 'medial plantar nerve' 'medial plantar nerve' SubClassOf 'plantar nerve' http://purl.obolibrary.org/obo/UBERON_0011163 supraoccipital pre-cartilage condensation 'supraoccipital pre-cartilage condensation' SubClassOf 'head mesenchyme' http://purl.obolibrary.org/obo/UBERON_0035112 intrinsic muscle 'intrinsic muscle' SubClassOf 'skeletal muscle organ' http://purl.obolibrary.org/obo/UBERON_0011168 postfrontal bone 'postfrontal bone' SubClassOf 'facial bone' 'postfrontal bone' SubClassOf 'dermal bone' http://purl.obolibrary.org/obo/UBERON_0011169 postorbital bone 'postorbital bone' SubClassOf 'facial bone' 'postorbital bone' SubClassOf 'dermal bone' http://purl.obolibrary.org/obo/UBERON_0011166 patellofemoral joint 'patellofemoral joint' SubClassOf 'hindlimb joint' 'patellofemoral joint' SubClassOf 'synovial limb joint' http://purl.obolibrary.org/obo/UBERON_0011167 septomaxilla bone 'septomaxilla bone' SubClassOf 'facial bone' 'septomaxilla bone' SubClassOf 'dermal bone' 'septomaxilla bone' SubClassOf 'intramembranous bone' http://purl.obolibrary.org/obo/MONDO_0019801 acute adrenal insufficiency 'acute adrenal insufficiency' SubClassOf 'primary adrenal insufficiency' http://purl.obolibrary.org/obo/MONDO_0007834 islet cell adenomatosis 'islet cell adenomatosis' SubClassOf 'inherited genetic disease' 'islet cell adenomatosis' SubClassOf 'endocrine pancreas disease' http://purl.obolibrary.org/obo/UBERON_0011110 humeroulnar joint 'humeroulnar joint' SubClassOf 'forelimb joint' 'humeroulnar joint' SubClassOf 'synovial limb joint' http://purl.obolibrary.org/obo/UBERON_0011113 inferior tibiofibular joint 'inferior tibiofibular joint' SubClassOf 'tibiofibular joint' http://purl.obolibrary.org/obo/UBERON_0013776 skin of palmar/plantar part of autopod 'skin of palmar/plantar part of autopod' SubClassOf 'autopod skin' http://purl.obolibrary.org/obo/UBERON_0011111 humeroradial joint 'humeroradial joint' SubClassOf 'forelimb joint' http://purl.obolibrary.org/obo/UBERON_0011112 tibiofibular joint 'tibiofibular joint' SubClassOf 'syndesmosis' 'tibiofibular joint' SubClassOf 'hindlimb joint' http://purl.obolibrary.org/obo/UBERON_0011117 superior tibiofibular joint 'superior tibiofibular joint' SubClassOf 'tibiofibular joint' http://purl.obolibrary.org/obo/UBERON_0011118 tarsometatarsal joint 'tarsometatarsal joint' SubClassOf 'pes joint' http://purl.obolibrary.org/obo/MONDO_0019817 congenital mitral valve insufficiency and/or stenosis 'congenital mitral valve insufficiency and/or stenosis' SubClassOf 'congenital mitral malformation' http://purl.obolibrary.org/obo/UBERON_0013778 skin of sole of pes 'skin of sole of pes' SubClassOf 'skin of pes' 'skin of sole of pes' SubClassOf 'skin of palmar/plantar part of autopod' http://purl.obolibrary.org/obo/UBERON_0013777 skin of palm of manus 'skin of palm of manus' SubClassOf 'skin of manus' 'skin of palm of manus' SubClassOf 'skin of palmar/plantar part of autopod' http://purl.obolibrary.org/obo/UBERON_0011119 carpometacarpal joint 'carpometacarpal joint' SubClassOf 'manus joint' http://purl.obolibrary.org/obo/UBERON_0001785 cranial nerve 'cranial nerve' SubClassOf 'nerve of head region' http://purl.obolibrary.org/obo/UBERON_0001780 spinal nerve 'spinal nerve' SubClassOf 'nerve' http://purl.obolibrary.org/obo/UBERON_0001782 pigmented layer of retina 'pigmented layer of retina' SubClassOf 'eye epithelium' http://purl.obolibrary.org/obo/MONDO_0007845 Kaposi sarcoma, susceptibility to 'Kaposi sarcoma, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'Kaposi's sarcoma') 'Kaposi sarcoma, susceptibility to' SubClassOf 'inherited disease susceptibility' 'Kaposi sarcoma, susceptibility to' SubClassOf 'predisposes towards' some 'Kaposi's sarcoma' http://purl.obolibrary.org/obo/UBERON_0011106 cruciate ligament of atlas 'cruciate ligament of knee' DisjointWith 'cruciate ligament of atlas' 'cruciate ligament of atlas' SubClassOf 'ligament' http://purl.obolibrary.org/obo/UBERON_0013768 great vessel of heart 'great vessel of heart' SubClassOf 'blood vessel' http://purl.obolibrary.org/obo/UBERON_0011107 synovial joint of pelvic girdle 'synovial joint of pelvic girdle' SubClassOf 'synovial joint' 'synovial joint of pelvic girdle' SubClassOf 'joint of girdle' http://purl.obolibrary.org/obo/UBERON_0013766 epicanthal fold 'epicanthal fold' SubClassOf 'skin of eyelid' http://purl.obolibrary.org/obo/MONDO_0019822 arterial duct anomaly 'arterial duct anomaly' SubClassOf 'congenital anomaly of the great arteries' http://purl.obolibrary.org/obo/UBERON_0011108 synovial joint of pectoral girdle 'synovial joint of pectoral girdle' SubClassOf 'joint of girdle' 'synovial joint of pectoral girdle' SubClassOf 'synovial joint' http://purl.obolibrary.org/obo/UBERON_0001796 aqueous humor of eyeball 'aqueous humor of eyeball' SubClassOf 'bodily fluid' http://purl.obolibrary.org/obo/MONDO_0007853 keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathy 'keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathy' SubClassOf 'inherited genetic disease' http://purl.obolibrary.org/obo/UBERON_0011131 intermetacarpal joint 'intermetacarpal joint' SubClassOf 'manus joint' http://purl.obolibrary.org/obo/UBERON_0011132 intercarpal joint 'intercarpal joint' SubClassOf 'manus joint' http://purl.obolibrary.org/obo/UBERON_0011130 temporomandibular joint primordium 'temporomandibular joint primordium' SubClassOf 'primordium' http://purl.obolibrary.org/obo/UBERON_0011136 ligament of vertebral column 'ligament of vertebral column' SubClassOf 'skeletal ligament' http://purl.obolibrary.org/obo/UBERON_0011133 intermetatarsal joint 'intermetatarsal joint' SubClassOf 'pes joint' http://purl.obolibrary.org/obo/UBERON_0011134 nonsynovial joint 'nonsynovial joint' SubClassOf 'skeletal joint' 'synovial joint' DisjointWith 'nonsynovial joint' http://purl.obolibrary.org/obo/UBERON_0011139 synovial limb joint 'synovial limb joint' SubClassOf 'limb joint' 'synovial limb joint' SubClassOf 'synovial joint' http://purl.obolibrary.org/obo/MONDO_0019833 pituitary hormone deficiency from tumoral origin 'pituitary hormone deficiency from tumoral origin' SubClassOf 'acquired pituitary hormone deficiency' http://purl.obolibrary.org/obo/MONDO_0019832 acquired pituitary hormone deficiency 'acquired pituitary hormone deficiency' EquivalentTo 'hypopituitarism' and ('has modifier' some 'acquired') 'acquired pituitary hormone deficiency' SubClassOf 'has modifier' some 'acquired' 'acquired pituitary hormone deficiency' SubClassOf 'Pituitary deficiency' 'acquired pituitary hormone deficiency' SubClassOf 'hypopituitarism' http://purl.obolibrary.org/obo/MONDO_0019834 pituitary hormone deficiency from meningeal origin 'pituitary hormone deficiency from meningeal origin' SubClassOf 'acquired pituitary hormone deficiency' http://purl.obolibrary.org/obo/UBERON_0011120 laryngeal joint 'laryngeal joint' SubClassOf 'synovial joint' http://purl.obolibrary.org/obo/UBERON_0011121 cricothyroid joint 'cricothyroid joint' SubClassOf 'laryngeal joint' http://purl.obolibrary.org/obo/UBERON_0011124 xiphisternal joint 'xiphisternal joint' SubClassOf 'symphysis' http://purl.obolibrary.org/obo/UBERON_0011122 cricoarytenoid joint 'cricoarytenoid joint' SubClassOf 'laryngeal joint' http://purl.obolibrary.org/obo/UBERON_0011123 stifle joint 'stifle joint' SubClassOf 'knee joint' http://purl.obolibrary.org/obo/MONDO_0019844 pituitary hormone deficiency secondary to storage disease 'pituitary hormone deficiency secondary to storage disease' SubClassOf 'Pituitary deficiency' http://purl.obolibrary.org/obo/MONDO_0019843 pituitary hormone deficiency secondary to a granulomatous disease 'pituitary hormone deficiency secondary to a granulomatous disease' SubClassOf 'acquired pituitary hormone deficiency' http://purl.obolibrary.org/obo/MONDO_0019846 acquired central diabetes insipidus 'acquired central diabetes insipidus' SubClassOf 'has modifier' some 'acquired' 'acquired central diabetes insipidus' EquivalentTo 'central diabetes insipidus' and ('has modifier' some 'acquired') 'acquired central diabetes insipidus' SubClassOf 'central diabetes insipidus' http://purl.obolibrary.org/obo/MONDO_0056804 benign neoplasm of peripheral nervous system 'benign neoplasm of peripheral nervous system' SubClassOf 'central nervous system organ benign neoplasm' 'benign neoplasm of peripheral nervous system' SubClassOf 'peripheral nervous system neoplasm' http://purl.obolibrary.org/obo/MONDO_0056806 non-small cell squamous lung carcinoma 'non-small cell squamous lung carcinoma' SubClassOf 'squamous cell lung carcinoma' 'non-small cell squamous lung carcinoma' EquivalentTo 'squamous cell lung carcinoma' and 'non-small cell lung carcinoma' 'non-small cell squamous lung carcinoma' SubClassOf 'non-small cell lung carcinoma' http://purl.obolibrary.org/obo/MONDO_0056802 synovial bursa disease 'synovial bursa disease' SubClassOf 'synovium disease' http://purl.obolibrary.org/obo/MONDO_0056803 sulfur metabolism disease 'sulfur metabolism disease' SubClassOf 'mineral metabolism disease' http://purl.obolibrary.org/obo/MONDO_0019859 congenital thyroid malformation without hypothyroidism 'congenital thyroid malformation without hypothyroidism' SubClassOf 'has modifier' some 'rare' 'congenital thyroid malformation without hypothyroidism' SubClassOf 'thyroid disease' http://purl.obolibrary.org/obo/MONDO_0019851 acquired primary ovarian failure 'acquired primary ovarian failure' SubClassOf 'anomaly of puberty or/and menstrual cycle' 'acquired primary ovarian failure' SubClassOf 'has modifier' some 'acquired' 'acquired primary ovarian failure' SubClassOf 'primary ovarian insufficiency' 'acquired primary ovarian failure' EquivalentTo 'primary ovarian insufficiency' and ('has modifier' some 'acquired') http://purl.obolibrary.org/obo/MONDO_0056815 liver adenosquamous carcinoma 'liver adenosquamous carcinoma' SubClassOf 'Adenosquamous Carcinoma' 'liver adenosquamous carcinoma' SubClassOf 'squamous cell carcinoma of liver and intrahepatic biliary tract' http://purl.obolibrary.org/obo/MONDO_0056819 nasal cavity and paranasal sinus carcinoma 'nasal cavity and paranasal sinus carcinoma' SubClassOf 'head and neck carcinoma' 'nasal cavity and paranasal sinus carcinoma' SubClassOf 'nasal cavity and paranasal sinus neoplasm' http://purl.obolibrary.org/obo/MONDO_0017207 primary organ-specific lymphoma 'primary organ-specific lymphoma' SubClassOf 'lymphoma' http://purl.obolibrary.org/obo/UBERON_0035180 sigmoid artery 'sigmoid artery' SubClassOf 'systemic artery' http://purl.obolibrary.org/obo/MONDO_0007899 lichen sclerosus et atrophicus 'lichen sclerosus et atrophicus' SubClassOf 'genetic skin disease' 'lichen sclerosus et atrophicus' SubClassOf 'dermatitis' http://purl.obolibrary.org/obo/UBERON_0035183 calcarine artery 'calcarine artery' SubClassOf 'artery' http://purl.obolibrary.org/obo/MONDO_0005232 large cell carcinoma 'large cell carcinoma' SubClassOf 'carcinoma' http://purl.obolibrary.org/obo/MONDO_0017212 paraneoplastic uveitis 'paraneoplastic uveitis' EquivalentTo 'non-infectious posterior uveitis' and 'paraneoplastic syndrome' 'paraneoplastic uveitis' SubClassOf 'paraneoplastic neurologic syndrome' 'paraneoplastic uveitis' SubClassOf 'non-infectious posterior uveitis' http://purl.obolibrary.org/obo/UBERON_0035195 plantar metatarsal artery 'plantar metatarsal artery' SubClassOf 'systemic artery' 'plantar metatarsal artery' SubClassOf 'hindlimb blood vessel' http://purl.obolibrary.org/obo/UBERON_0035198 superficial lymphatic vessel 'superficial lymphatic vessel' SubClassOf 'lymphatic vessel' http://purl.obolibrary.org/obo/UBERON_0011193 inferior ophthalmic vein 'inferior ophthalmic vein' SubClassOf 'ophthalmic vein' http://purl.obolibrary.org/obo/UBERON_0011191 ophthalmic vein 'ophthalmic vein' SubClassOf 'craniocervical region vein' http://purl.obolibrary.org/obo/UBERON_0035162 infraclavicular lymph node 'infraclavicular lymph node' SubClassOf 'superficial lymph node' http://purl.obolibrary.org/obo/UBERON_0011192 superior ophthalmic vein 'superior ophthalmic vein' SubClassOf 'ophthalmic vein' http://purl.obolibrary.org/obo/UBERON_0011197 parathyroid epithelium 'parathyroid epithelium' SubClassOf 'glandular epithelium' 'parathyroid epithelium' SubClassOf 'multilaminar epithelium' 'parathyroid epithelium' SubClassOf 'endo-epithelium' http://purl.obolibrary.org/obo/UBERON_0011195 inferior parathyroid epithelium 'inferior parathyroid epithelium' SubClassOf 'parathyroid epithelium' http://purl.obolibrary.org/obo/UBERON_0011196 superior parathyroid epithelium 'superior parathyroid epithelium' SubClassOf 'parathyroid epithelium' http://purl.obolibrary.org/obo/MONDO_0017234 inherited prion disease 'inherited prion disease' EquivalentTo 'prion disease' and ('has modifier' some 'inherited') 'inherited prion disease' SubClassOf 'human prion disease' 'inherited prion disease' SubClassOf 'Genetic neurodegenerative disease with dementia' 'inherited prion disease' SubClassOf 'infectious disease with dementia' 'inherited prion disease' SubClassOf 'prion disease' http://purl.obolibrary.org/obo/UBERON_0035171 obturator lymph node 'obturator lymph node' SubClassOf 'external iliac lymph node' http://purl.obolibrary.org/obo/UBERON_0035174 right ear 'right ear' SubClassOf 'ear' http://purl.obolibrary.org/obo/UBERON_0011186 Krause's gland 'Krause's gland' SubClassOf 'accessory lacrimal gland' http://purl.obolibrary.org/obo/UBERON_0011184 epithelium of crypt of Lieberkuhn 'epithelium of crypt of Lieberkuhn' SubClassOf 'intestinal epithelium' http://purl.obolibrary.org/obo/MONDO_0044877 paraneoplastic cerebellar degeneration 'paraneoplastic cerebellar degeneration' SubClassOf 'paraneoplastic neurologic syndrome' 'paraneoplastic cerebellar degeneration' EquivalentTo 'paraneoplastic syndrome' and 'cerebellar degeneration' 'paraneoplastic cerebellar degeneration' SubClassOf 'cerebellar degeneration' http://purl.obolibrary.org/obo/MONDO_0017260 systemic diseases with posterior uveitis 'systemic diseases with posterior uveitis' EquivalentTo 'systemic disease' and ('disease has feature' some 'choroiditis') 'systemic diseases with posterior uveitis' SubClassOf 'disease has feature' some 'choroiditis' 'systemic diseases with posterior uveitis' SubClassOf 'systemic diseases with panuveitis' http://purl.obolibrary.org/obo/MONDO_0017259 systemic diseases with anterior uveitis 'systemic diseases with anterior uveitis' EquivalentTo 'systemic disease' and ('disease has feature' some 'anterior uveitis') 'systemic diseases with anterior uveitis' SubClassOf 'disease has feature' some 'anterior uveitis' 'systemic diseases with anterior uveitis' SubClassOf 'systemic disease' http://purl.obolibrary.org/obo/MONDO_0056820 nasal cavity and paranasal sinus neoplasm 'nasal cavity and paranasal sinus neoplasm' SubClassOf 'head and neck neoplasia' http://purl.obolibrary.org/obo/UBERON_0035150 superior cerebral vein 'superior cerebral vein' SubClassOf 'superficial cerebral vein' http://purl.obolibrary.org/obo/UBERON_0035151 dorsal cerebral vein 'dorsal cerebral vein' SubClassOf 'cerebral vein' http://purl.obolibrary.org/obo/UBERON_0035152 internal cerebral vein 'internal cerebral vein' SubClassOf 'cerebral vein' http://purl.obolibrary.org/obo/MONDO_0017261 systemic diseases with panuveitis 'systemic diseases with panuveitis' SubClassOf 'systemic disease' 'systemic diseases with panuveitis' SubClassOf 'disease has feature' some 'panuveitis' 'systemic diseases with panuveitis' EquivalentTo 'systemic disease' and ('disease has feature' some 'panuveitis') http://purl.obolibrary.org/obo/MONDO_0017264 syndromic recessive X-linked ichthyosis 'syndromic recessive X-linked ichthyosis' SubClassOf 'Metabolic disease with corneal opacity' 'syndromic recessive X-linked ichthyosis' SubClassOf 'Sterol metabolism disorder' 'syndromic recessive X-linked ichthyosis' SubClassOf 'Rare syndromic dyslipidemia' 'syndromic recessive X-linked ichthyosis' SubClassOf 'Syndromic ichthyosis associated with ocular features' 'syndromic recessive X-linked ichthyosis' SubClassOf 'Rare genetic neurological disorder' 'syndromic recessive X-linked ichthyosis' SubClassOf 'X-linked ichthyosis syndrome' 'syndromic recessive X-linked ichthyosis' SubClassOf 'X-linked recessive disease' 'syndromic recessive X-linked ichthyosis' SubClassOf 'disease of catalytic activity' 'syndromic recessive X-linked ichthyosis' EquivalentTo 'Recessive X-linked ichthyosis' and ('has modifier' some 'has a syndromic presentation') 'syndromic recessive X-linked ichthyosis' SubClassOf 'Inherited non-syndromic ichthyosis' 'syndromic recessive X-linked ichthyosis' SubClassOf 'Syndromic corneal dystrophy' http://purl.obolibrary.org/obo/MONDO_0005299 brain ischemia 'brain ischemia' SubClassOf 'cerebrovascular disorder' 'brain ischemia' SubClassOf 'ischemic disease' http://purl.obolibrary.org/obo/MONDO_0017278 autoimmune polyendocrinopathy 'autoimmune polyendocrinopathy' SubClassOf 'syndromic disease' 'autoimmune polyendocrinopathy' SubClassOf 'polyendocrinopathy' 'autoimmune polyendocrinopathy' SubClassOf 'autoimmune disease of endocrine system' http://purl.obolibrary.org/obo/UBERON_2005320 dorsal longitudinal lymphatic vessel 'dorsal longitudinal lymphatic vessel' SubClassOf 'lymph vasculature' http://purl.obolibrary.org/obo/MONDO_0017287 IgG4-related disease 'IgG4-related disease' SubClassOf 'systemic autoimmune disease' http://purl.obolibrary.org/obo/UBERON_0001803 epithelium of lens 'epithelium of lens' SubClassOf 'simple cuboidal epithelium' 'epithelium of lens' SubClassOf 'eye epithelium' http://purl.obolibrary.org/obo/UBERON_0001805 autonomic ganglion 'autonomic ganglion' SubClassOf 'ganglion of peripheral nervous system' http://purl.obolibrary.org/obo/UBERON_0001800 sensory ganglion 'sensory ganglion' SubClassOf 'ganglion' http://purl.obolibrary.org/obo/UBERON_2005311 pronephric glomerular capsule epithelium 'pronephric glomerular capsule epithelium' SubClassOf 'nephron epithelium' 'pronephric glomerular capsule epithelium' SubClassOf 'simple squamous epithelium' http://purl.obolibrary.org/obo/UBERON_0001806 sympathetic ganglion 'sympathetic ganglion' SubClassOf 'autonomic ganglion' http://purl.obolibrary.org/obo/UBERON_0001807 paravertebral ganglion 'paravertebral ganglion' SubClassOf 'sympathetic ganglion' 'paravertebral ganglion' SubClassOf 'trunk ganglion' http://purl.obolibrary.org/obo/UBERON_0001808 parasympathetic ganglion 'parasympathetic ganglion' SubClassOf 'autonomic ganglion' http://purl.obolibrary.org/obo/MONDO_0044881 hematopoietic and lymphoid cell neoplasm 'hematopoietic and lymphoid cell neoplasm' SubClassOf 'hematopoietic and lymphoid system neoplasm' http://purl.obolibrary.org/obo/UBERON_0001809 enteric ganglion 'enteric ganglion' SubClassOf 'parasympathetic ganglion' http://purl.obolibrary.org/obo/UBERON_2005319 intersegmental lymph vessel 'intersegmental lymph vessel' SubClassOf 'lymph vasculature' http://purl.obolibrary.org/obo/MONDO_0044887 central nervous system non-hodgkin lymphoma 'central nervous system non-hodgkin lymphoma' SubClassOf 'Central Nervous System Lymphoma' 'central nervous system non-hodgkin lymphoma' SubClassOf 'B-cell non-Hodgkins lymphoma' http://purl.obolibrary.org/obo/MONDO_0044889 high grade B-cell lymphoma 'high grade B-cell lymphoma' SubClassOf 'diffuse large B-cell lymphoma' 'high grade B-cell lymphoma' SubClassOf 'high grade malignant neoplasm' 'high grade B-cell lymphoma' EquivalentTo 'diffuse large B-cell lymphoma' and ('has modifier' some 'tumor grade 3 or 4, general grading system') 'high grade B-cell lymphoma' SubClassOf 'has modifier' some 'tumor grade 3 or 4, general grading system' http://purl.obolibrary.org/obo/MONDO_0042233 disseminated candidiasis 'disseminated candidiasis' EquivalentTo 'candidiasis' and ('has modifier' some 'disseminated') 'disseminated candidiasis' SubClassOf 'opportunistic systemic mycosis' 'disseminated candidiasis' SubClassOf 'candidiasis' http://purl.obolibrary.org/obo/UBERON_2005303 caudal fin lymph vessel 'caudal fin lymph vessel' SubClassOf 'appendage lymph vessel' http://purl.obolibrary.org/obo/UBERON_0001818 tarsal gland 'tarsal gland' SubClassOf 'modified sebaceous gland' 'tarsal gland' SubClassOf 'sebaceous gland of eyelid' http://purl.obolibrary.org/obo/UBERON_2005304 caudal fin blood vessel 'caudal fin blood vessel' SubClassOf 'appendage blood vessel' http://purl.obolibrary.org/obo/UBERON_2005372 dorsal fin distal radial bone 1 'dorsal fin distal radial bone 1' SubClassOf 'dorsal fin distal radial bone' http://purl.obolibrary.org/obo/UBERON_2005373 dorsal fin distal radial bone 2 'dorsal fin distal radial bone 2' SubClassOf 'dorsal fin distal radial bone' http://purl.obolibrary.org/obo/UBERON_2005376 dorsal fin distal radial bone 5 'dorsal fin distal radial bone 5' SubClassOf 'dorsal fin distal radial bone' http://purl.obolibrary.org/obo/UBERON_2005377 dorsal fin distal radial bone 6 'dorsal fin distal radial bone 6' SubClassOf 'dorsal fin distal radial bone' http://purl.obolibrary.org/obo/UBERON_2005374 dorsal fin distal radial bone 3 'dorsal fin distal radial bone 3' SubClassOf 'dorsal fin distal radial bone' http://purl.obolibrary.org/obo/UBERON_2005375 dorsal fin distal radial bone 4 'dorsal fin distal radial bone 4' SubClassOf 'dorsal fin distal radial bone' http://purl.obolibrary.org/obo/UBERON_2005378 dorsal fin distal radial bone 7 'dorsal fin distal radial bone 7' SubClassOf 'dorsal fin distal radial bone' http://purl.obolibrary.org/obo/UBERON_2005379 dorsal fin distal radial bone 8 'dorsal fin distal radial bone 8' SubClassOf 'dorsal fin distal radial bone' http://purl.obolibrary.org/obo/UBERON_0001868 skin of chest 'skin of chest' SubClassOf 'skin of thorax' http://purl.obolibrary.org/obo/UBERON_0011210 migration pathway NC-derived mesenchyme 'migration pathway NC-derived mesenchyme' SubClassOf 'mesenchyme derived from trunk neural crest' http://purl.obolibrary.org/obo/UBERON_0011217 serratus dorsalis muscle 'serratus dorsalis muscle' SubClassOf 'muscle of vertebral column' http://purl.obolibrary.org/obo/UBERON_0011218 spinalis cervicis muscle 'spinalis cervicis muscle' SubClassOf 'spinalis muscle' http://purl.obolibrary.org/obo/UBERON_0011219 longissimus lumborum muscle 'longissimus lumborum muscle' SubClassOf 'longissimus muscle' http://purl.obolibrary.org/obo/UBERON_0001884 phrenic nerve 'phrenic nerve' SubClassOf 'thoracic cavity artery' 'phrenic nerve' SubClassOf 'thoracic cavity nerve' http://purl.obolibrary.org/obo/UBERON_2005380 dorsal fin proximal radial bone 3 'dorsal fin proximal radial bone 3' SubClassOf 'dorsal fin proximal radial bone' http://purl.obolibrary.org/obo/UBERON_2005383 dorsal fin proximal radial bone 6 'dorsal fin proximal radial bone 6' SubClassOf 'dorsal fin proximal radial bone' http://purl.obolibrary.org/obo/UBERON_2005384 dorsal fin proximal radial bone 7 'dorsal fin proximal radial bone 7' SubClassOf 'dorsal fin proximal radial bone' http://purl.obolibrary.org/obo/UBERON_2005381 dorsal fin proximal radial bone 4 'dorsal fin proximal radial bone 4' SubClassOf 'dorsal fin proximal radial bone' http://purl.obolibrary.org/obo/UBERON_2005382 dorsal fin proximal radial bone 5 'dorsal fin proximal radial bone 5' SubClassOf 'dorsal fin proximal radial bone' http://purl.obolibrary.org/obo/UBERON_2005385 dorsal fin proximal radial bone 8 'dorsal fin proximal radial bone 8' SubClassOf 'dorsal fin proximal radial bone' http://purl.obolibrary.org/obo/UBERON_0011202 urachus epithelium 'urachus epithelium' SubClassOf 'epithelial tube' 'urachus epithelium' SubClassOf 'meso-epithelium' http://purl.obolibrary.org/obo/UBERON_0011200 sacrococcygeal symphysis 'sacrococcygeal symphysis' SubClassOf 'intervertebral joint' http://purl.obolibrary.org/obo/UBERON_0011205 carpometacarpus 'carpometacarpus' SubClassOf 'manus bone' http://purl.obolibrary.org/obo/UBERON_0011206 hinge joint 'hinge joint' SubClassOf 'skeletal joint' http://purl.obolibrary.org/obo/UBERON_0011209 lateral migration pathway NC-derived mesenchyme 'medial migration pathway NC-derived mesenchyme' DisjointWith 'lateral migration pathway NC-derived mesenchyme' 'lateral migration pathway NC-derived mesenchyme' SubClassOf 'migration pathway NC-derived mesenchyme' http://purl.obolibrary.org/obo/UBERON_0011207 iliocostalis lumborum 'iliocostalis lumborum' SubClassOf 'iliocostalis muscle' http://purl.obolibrary.org/obo/UBERON_0011208 medial migration pathway NC-derived mesenchyme 'medial migration pathway NC-derived mesenchyme' SubClassOf 'migration pathway NC-derived mesenchyme' 'medial migration pathway NC-derived mesenchyme' DisjointWith 'lateral migration pathway NC-derived mesenchyme' http://purl.obolibrary.org/obo/UBERON_0001824 mucosa of larynx 'mucosa of larynx' SubClassOf 'tracheal mucosa' http://purl.obolibrary.org/obo/UBERON_0001826 nasal cavity mucosa 'nasal cavity mucosa' SubClassOf 'tracheal mucosa' http://purl.obolibrary.org/obo/UBERON_0001821 sebaceous gland 'sebaceous gland' SubClassOf 'epidermis gland' 'sebaceous gland' SubClassOf 'exocrine gland of integumental system' 'sebaceous gland' SubClassOf 'holocrine gland' http://purl.obolibrary.org/obo/UBERON_0001829 major salivary gland 'major salivary gland' SubClassOf 'saliva-secreting gland' http://purl.obolibrary.org/obo/UBERON_0001832 sublingual gland 'sublingual gland' DisjointWith 'crustacean maxillary gland' 'sublingual gland' SubClassOf 'major salivary gland' http://purl.obolibrary.org/obo/UBERON_0001845 perilymph 'perilymph' SubClassOf 'otolymph' http://purl.obolibrary.org/obo/MONDO_0007902 lichen planus, familial 'lichen planus, familial' EquivalentTo 'lichen planus' and ('has modifier' some 'inherited') 'lichen planus, familial' SubClassOf 'lichen planus' 'lichen planus, familial' SubClassOf 'genetic skin disease' http://purl.obolibrary.org/obo/UBERON_0001853 utricle of membranous labyrinth 'utricle of membranous labyrinth' SubClassOf 'otolith organ' http://purl.obolibrary.org/obo/UBERON_0001854 saccule of membranous labyrinth 'saccule of membranous labyrinth' SubClassOf 'otolith organ' http://purl.obolibrary.org/obo/UBERON_0001852 endolymph 'endolymph' SubClassOf 'otolymph' http://purl.obolibrary.org/obo/UBERON_0013695 colon endothelium 'colon endothelium' SubClassOf 'endothelium' 'colon endothelium' SubClassOf 'colonic epithelium' http://purl.obolibrary.org/obo/UBERON_0013694 brain endothelium 'brain endothelium' SubClassOf 'ecto-epithelium' 'brain endothelium' SubClassOf 'endothelium' http://purl.obolibrary.org/obo/UBERON_0013699 strand of axillary hair 'strand of axillary hair' SubClassOf 'strand of hair' http://purl.obolibrary.org/obo/UBERON_0013698 strand of pubic hair 'strand of pubic hair' SubClassOf 'strand of hair' http://purl.obolibrary.org/obo/UBERON_0035004 preputial swelling 'preputial swelling' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0013697 exocrine pancreas epithelium 'exocrine pancreas epithelium' SubClassOf 'endo-epithelium' http://purl.obolibrary.org/obo/UBERON_0035005 preputial swelling of male 'preputial swelling of male' SubClassOf 'preputial swelling' http://purl.obolibrary.org/obo/UBERON_0013696 tonsil epithelium 'tonsil epithelium' SubClassOf 'pharyngeal epithelium' http://purl.obolibrary.org/obo/UBERON_0035006 preputial swelling of female 'preputial swelling of female' SubClassOf 'preputial swelling' http://purl.obolibrary.org/obo/UBERON_0035007 nasal concha cartilage 'nasal concha cartilage' SubClassOf 'cartilage element of chondrocranium' http://purl.obolibrary.org/obo/UBERON_0011022 flexor hallucis brevis muscle 'flexor hallucis brevis muscle' SubClassOf 'intrinsic muscle of pes' 'flexor hallucis brevis muscle' SubClassOf 'flexor muscle' http://purl.obolibrary.org/obo/UBERON_0011025 aryepiglotticus muscle 'aryepiglotticus muscle' SubClassOf 'muscle of larynx' http://purl.obolibrary.org/obo/UBERON_0013688 tonsil germinal center 'tonsil germinal center' SubClassOf 'germinal center' http://purl.obolibrary.org/obo/UBERON_0011024 extrinsic extensor muscle of manus 'extrinsic extensor muscle of manus' SubClassOf 'extensor muscle' 'extrinsic extensor muscle of manus' SubClassOf 'forelimb zeugopod muscle' http://purl.obolibrary.org/obo/UBERON_0013689 appendix lymphoid tissue 'appendix lymphoid tissue' SubClassOf 'lymphoid tissue' http://purl.obolibrary.org/obo/UBERON_0011050 thoracic vertebra 8 'thoracic vertebra 8' SubClassOf 'thoracic vertebra' http://purl.obolibrary.org/obo/UBERON_0011043 obturator muscle 'obturator muscle' SubClassOf 'gluteal muscle' http://purl.obolibrary.org/obo/UBERON_0011048 obturator internus 'obturator internus' SubClassOf 'obturator muscle' http://purl.obolibrary.org/obo/UBERON_0011049 uterovesical pouch 'uterovesical pouch' SubClassOf 'fold of peritoneum' http://purl.obolibrary.org/obo/UBERON_0001666 flexor digitorum longus 'flexor digitorum longus' SubClassOf 'muscle of leg' http://purl.obolibrary.org/obo/UBERON_0001667 tibialis posterior 'tibialis posterior' SubClassOf 'tibialis' http://purl.obolibrary.org/obo/UBERON_0001668 cerebellar vein 'cerebellar vein' SubClassOf 'vein' http://purl.obolibrary.org/obo/UBERON_0001669 superior cerebellar vein 'superior cerebellar vein' SubClassOf 'cerebellar vein' http://purl.obolibrary.org/obo/UBERON_0001662 anterior auricular vein 'anterior auricular vein' DisjointWith 'posterior auricular vein' 'anterior auricular vein' SubClassOf 'auricular vein' http://purl.obolibrary.org/obo/UBERON_0001663 cerebral vein 'cerebral vein' SubClassOf 'brain blood vessel' 'cerebral vein' SubClassOf 'vein' http://purl.obolibrary.org/obo/UBERON_0001664 inferior cerebral vein 'inferior cerebral vein' SubClassOf 'cerebral vein' http://purl.obolibrary.org/obo/UBERON_0001665 triceps surae 'triceps surae' SubClassOf 'hindlimb zeugopod muscle' http://purl.obolibrary.org/obo/UBERON_0001660 maxillary vein 'maxillary vein' SubClassOf 'craniocervical region vein' 'maxillary vein' SubClassOf 'head blood vessel' 'maxillary vein' SubClassOf 'neck blood vessel' http://purl.obolibrary.org/obo/UBERON_0001661 deep temporal vein 'deep temporal vein' SubClassOf 'deep vein' 'deep temporal vein' SubClassOf 'temporal vein' http://purl.obolibrary.org/obo/UBERON_0001677 sphenoid bone 'sphenoid bone' SubClassOf 'pneumatized bone' 'sphenoid bone' SubClassOf 'facial bone' 'sphenoid bone' SubClassOf 'endochondral bone' http://purl.obolibrary.org/obo/UBERON_0001678 temporal bone 'temporal bone' SubClassOf 'facial bone' 'temporal bone' SubClassOf 'pneumatized bone' http://purl.obolibrary.org/obo/UBERON_0001679 ethmoid bone 'ethmoid bone' SubClassOf 'endochondral bone' 'ethmoid bone' SubClassOf 'facial bone' 'ethmoid bone' SubClassOf 'neurocranium bone' http://purl.obolibrary.org/obo/UBERON_0013640 internal cheek pouch 'internal cheek pouch' SubClassOf 'cheek pouch' http://purl.obolibrary.org/obo/UBERON_0013641 external cheek pouch 'external cheek pouch' SubClassOf 'cheek pouch' http://purl.obolibrary.org/obo/UBERON_0013648 masseteric artery 'masseteric artery' SubClassOf 'artery' http://purl.obolibrary.org/obo/UBERON_0013647 lateral pterygoid nerve 'lateral pterygoid nerve' SubClassOf 'nerve of head region' http://purl.obolibrary.org/obo/UBERON_0013646 buccal nerve 'buccal nerve' SubClassOf 'nerve of head region' http://purl.obolibrary.org/obo/UBERON_0013645 gular gland 'gular gland' SubClassOf 'gland of integumental system' http://purl.obolibrary.org/obo/UBERON_0013649 fused tarsal bones 1 and 2 'fused tarsal bones 1 and 2' SubClassOf 'distal tarsal bone' http://purl.obolibrary.org/obo/UBERON_0001674 masseteric vein 'masseteric vein' SubClassOf 'vein' http://purl.obolibrary.org/obo/UBERON_0001676 occipital bone 'occipital bone' SubClassOf 'neurocranium bone' 'occipital bone' SubClassOf 'flat bone' http://purl.obolibrary.org/obo/UBERON_0001670 inferior cerebellar vein 'inferior cerebellar vein' SubClassOf 'cerebellar vein' http://purl.obolibrary.org/obo/UBERON_0001671 temporal vein 'temporal vein' SubClassOf 'craniocervical region vein' 'temporal vein' SubClassOf 'head blood vessel' http://purl.obolibrary.org/obo/UBERON_0001672 anterior cerebral vein 'anterior cerebral vein' DisjointWith 'posterior cerebral vein' 'anterior cerebral vein' SubClassOf 'cerebral vein' http://purl.obolibrary.org/obo/UBERON_0001688 incus bone 'incus bone' SubClassOf 'auditory ossicle bone' 'incus bone' SubClassOf 'endochondral bone' http://purl.obolibrary.org/obo/UBERON_0001689 malleus bone 'malleus bone' SubClassOf 'auditory ossicle bone' 'malleus bone' SubClassOf 'endochondral bone' http://purl.obolibrary.org/obo/MONDO_0007733 holoprosencephaly 3 'holoprosencephaly 3' SubClassOf 'Holoprosencephaly' http://purl.obolibrary.org/obo/UBERON_0013673 os priapium 'os priapium' SubClassOf 'bone of reproductive organ' 'os priapium' SubClassOf 'head bone' http://purl.obolibrary.org/obo/UBERON_0011011 brachioradialis 'brachioradialis' SubClassOf 'muscle of shoulder' 'brachioradialis' SubClassOf 'muscle of arm' http://purl.obolibrary.org/obo/UBERON_0011014 spinalis capitis muscle 'spinalis capitis muscle' SubClassOf 'spinalis muscle' http://purl.obolibrary.org/obo/UBERON_0013676 aproctal bone of priapium 'aproctal bone of priapium' SubClassOf 'bone of reproductive organ' 'aproctal bone of priapium' SubClassOf 'head bone' http://purl.obolibrary.org/obo/UBERON_0011012 flexor pollicis brevis muscle 'flexor pollicis brevis muscle' SubClassOf 'muscle of manus' http://purl.obolibrary.org/obo/UBERON_0011013 spinalis muscle 'spinalis muscle' SubClassOf 'muscle of vertebral column' 'spinalis muscle' SubClassOf 'axial muscle' http://purl.obolibrary.org/obo/UBERON_0013674 ctenactinium 'ctenactinium' SubClassOf 'head bone' 'ctenactinium' SubClassOf 'bone of reproductive organ' http://purl.obolibrary.org/obo/UBERON_0011016 pyramidalis 'pyramidalis' SubClassOf 'anterior abdominal wall muscle' http://purl.obolibrary.org/obo/MONDO_0019717 chromosomal disease with overgrowth 'chromosomal disease with overgrowth' SubClassOf 'Chromosomal anomaly' 'chromosomal disease with overgrowth' EquivalentTo 'Chromosomal anomaly' and 'Overgrowth syndrome' 'chromosomal disease with overgrowth' SubClassOf 'Overgrowth syndrome' http://purl.obolibrary.org/obo/UBERON_0011017 semispinalis muscle 'semispinalis muscle' SubClassOf 'muscle of vertebral column' http://purl.obolibrary.org/obo/UBERON_0001685 hyoid bone 'hyoid bone' SubClassOf 'irregular bone' http://purl.obolibrary.org/obo/UBERON_0001686 auditory ossicle bone 'auditory ossicle bone' SubClassOf 'head bone' http://purl.obolibrary.org/obo/UBERON_0001687 stapes bone 'stapes bone' SubClassOf 'endochondral bone' 'stapes bone' SubClassOf 'auditory ossicle bone' http://purl.obolibrary.org/obo/UBERON_0001680 lacrimal bone 'lacrimal bone' SubClassOf 'dermal bone' 'lacrimal bone' SubClassOf 'facial bone' 'lacrimal bone' SubClassOf 'irregular bone' http://purl.obolibrary.org/obo/MONDO_0020719 susceptibility to Hirschsprung disease 'susceptibility to Hirschsprung disease' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'Hirschsprung disease') 'susceptibility to Hirschsprung disease' SubClassOf 'inherited disease susceptibility' 'susceptibility to Hirschsprung disease' SubClassOf 'predisposes towards' some 'Hirschsprung disease' http://purl.obolibrary.org/obo/UBERON_0001681 nasal bone 'nasal bone' SubClassOf 'intramembranous bone' 'nasal bone' SubClassOf 'dermal bone' 'nasal bone' SubClassOf 'facial bone' 'nasal bone' SubClassOf 'flat bone' http://purl.obolibrary.org/obo/UBERON_0001682 palatine bone 'palatine bone' SubClassOf 'irregular bone' 'palatine bone' SubClassOf 'bone of upper jaw' 'palatine bone' SubClassOf 'palate bone' http://purl.obolibrary.org/obo/UBERON_0001683 jugal bone 'jugal bone' SubClassOf 'dermal bone' 'jugal bone' SubClassOf 'facial bone' 'jugal bone' SubClassOf 'irregular bone' http://purl.obolibrary.org/obo/UBERON_0011002 articular cartilage element 'articular cartilage of joint' DisjointWith 'articular cartilage element' 'articular cartilage element' SubClassOf 'pharyngeal arch cartilage' http://purl.obolibrary.org/obo/MONDO_0020705 neural tube defects, susceptibility to 'neural tube defects, susceptibility to' SubClassOf 'predisposes towards' some 'Neural tube defect' 'neural tube defects, susceptibility to' SubClassOf 'inherited disease susceptibility' 'neural tube defects, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'Neural tube defect') http://purl.obolibrary.org/obo/UBERON_0011007 endocardium of right auricle 'endocardium of right auricle' SubClassOf 'endocardium of auricle' 'endocardium of right auricle' SubClassOf 'right atrium endocardium' http://purl.obolibrary.org/obo/MONDO_0020704 inherited rippling muscle disease 'inherited rippling muscle disease' SubClassOf 'Qualitative or quantitative defects of caveolin-3' 'inherited rippling muscle disease' EquivalentTo 'Rippling muscle disease' and ('has modifier' some 'inherited') 'inherited rippling muscle disease' SubClassOf 'Non-dystrophic myopathy' http://purl.obolibrary.org/obo/MONDO_0020703 erythroid neoplasm 'erythroid neoplasm' SubClassOf 'chronic myeloproliferative disorder' http://purl.obolibrary.org/obo/UBERON_0011005 endocardium of auricle 'endocardium of auricle' SubClassOf 'endocardium of atrium' http://purl.obolibrary.org/obo/MONDO_0020702 autosomal dominant epidermolytic ichthyosis 'autosomal dominant epidermolytic ichthyosis' SubClassOf 'Epidermolytic ichthyosis' 'autosomal dominant epidermolytic ichthyosis' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/UBERON_0011006 endocardium of left auricle 'endocardium of left auricle' SubClassOf 'endocardium of auricle' 'endocardium of left auricle' SubClassOf 'left atrium endocardium' http://purl.obolibrary.org/obo/MONDO_0019724 secondary glomerular disease 'secondary glomerular disease' SubClassOf 'glomerular disease' http://purl.obolibrary.org/obo/UBERON_0001695 squamous part of temporal bone 'squamous part of temporal bone' SubClassOf 'dermal bone' 'squamous part of temporal bone' SubClassOf 'intramembranous bone' 'squamous part of temporal bone' SubClassOf 'facial bone' 'squamous part of temporal bone' SubClassOf 'neurocranium bone' http://purl.obolibrary.org/obo/UBERON_0001692 basioccipital bone 'basioccipital bone' SubClassOf 'neurocranium bone' 'basioccipital bone' SubClassOf 'endochondral bone' http://purl.obolibrary.org/obo/UBERON_0001693 exoccipital bone 'exoccipital bone' SubClassOf 'neurocranium bone' 'exoccipital bone' SubClassOf 'endochondral bone' http://purl.obolibrary.org/obo/UBERON_0035080 intraparotid lymph node 'intraparotid lymph node' SubClassOf 'lymph node of head' http://purl.obolibrary.org/obo/UBERON_0035081 caudofemoralis longus 'caudofemoralis longus' SubClassOf 'caudofemoralis' http://purl.obolibrary.org/obo/UBERON_0035082 caudofemoralis brevis 'caudofemoralis brevis' SubClassOf 'caudofemoralis' http://purl.obolibrary.org/obo/UBERON_0035083 transverse process-bearing vertebra 'transverse process-bearing vertebra' SubClassOf 'vertebra' 'transverse process-bearing vertebra' DisjointWith 'non-transverse process-bearing vertebra' http://purl.obolibrary.org/obo/UBERON_0035084 non-transverse process-bearing vertebra 'non-transverse process-bearing vertebra' SubClassOf 'vertebra' 'transverse process-bearing vertebra' DisjointWith 'non-transverse process-bearing vertebra' http://purl.obolibrary.org/obo/MONDO_0007750 hypercholesterolemia, familial 'hypercholesterolemia, familial' SubClassOf 'familial hypercholesterolemia' http://purl.obolibrary.org/obo/MONDO_0044704 oropharynx squamous cell carcinoma 'oropharynx squamous cell carcinoma' SubClassOf 'pharyngeal squamous cell carcinoma' 'oropharynx squamous cell carcinoma' SubClassOf 'oropharyngeal carcinoma' 'oropharynx squamous cell carcinoma' SubClassOf 'rare otorhinolaryngologic tumor' http://purl.obolibrary.org/obo/UBERON_0035091 extrinsic post-anal tail muscle 'extrinsic post-anal tail muscle' SubClassOf 'post-anal tail muscle' http://purl.obolibrary.org/obo/UBERON_0035092 spinalis caudalis muscle 'spinalis caudalis muscle' SubClassOf 'axial muscle' 'spinalis caudalis muscle' SubClassOf 'extrinsic post-anal tail muscle' http://purl.obolibrary.org/obo/UBERON_0035093 extensor caudae muscle 'extensor caudae muscle' SubClassOf 'extrinsic post-anal tail muscle' http://purl.obolibrary.org/obo/UBERON_0035094 extensor caudae medialis muscle 'extensor caudae medialis muscle' SubClassOf 'extensor caudae muscle' http://purl.obolibrary.org/obo/UBERON_0035095 extensor caudae lateralis muscle 'extensor caudae lateralis muscle' SubClassOf 'extensor caudae muscle' http://purl.obolibrary.org/obo/UBERON_0035097 iliocaudalis muscle 'iliocaudalis muscle' SubClassOf 'extrinsic post-anal tail muscle' 'iliocaudalis muscle' SubClassOf 'axial muscle' http://purl.obolibrary.org/obo/MONDO_0007763 nonpapillary renal cell carcinoma 'nonpapillary renal cell carcinoma' SubClassOf 'renal cell carcinoma' http://purl.obolibrary.org/obo/UBERON_0035098 hemipenis transversus muscle 'hemipenis transversus muscle' SubClassOf 'extrinsic post-anal tail muscle' http://purl.obolibrary.org/obo/UBERON_0035099 transversus perinei muscle 'transversus perinei muscle' SubClassOf 'extrinsic post-anal tail muscle' http://purl.obolibrary.org/obo/MONDO_0044710 lip and oral cavity squamous cell carcinoma 'lip and oral cavity squamous cell carcinoma' EquivalentTo 'lip and oral cavity carcinoma' and 'head and neck squamous cell carcinoma' 'lip and oral cavity squamous cell carcinoma' SubClassOf 'head and neck squamous cell carcinoma' 'lip and oral cavity squamous cell carcinoma' SubClassOf 'rare otorhinolaryngologic tumor' 'lip and oral cavity squamous cell carcinoma' SubClassOf 'lip and oral cavity carcinoma' http://purl.obolibrary.org/obo/MONDO_0019748 rare cause of hypertension 'rare cause of hypertension' SubClassOf 'has modifier' some 'rare' 'rare cause of hypertension' SubClassOf 'vascular disease' 'rare cause of hypertension' SubClassOf 'kidney disease' http://purl.obolibrary.org/obo/MONDO_0019744 rare renal tubular disease 'rare renal tubular disease' SubClassOf 'kidney disease' 'rare renal tubular disease' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0007771 hyperpigmentation with or without hypopigmentation, familial progressive 'hyperpigmentation with or without hypopigmentation, familial progressive' SubClassOf 'Familial progressive hyperpigmentation' http://purl.obolibrary.org/obo/MONDO_0019755 developmental defect during embryogenesis 'developmental defect during embryogenesis' SubClassOf 'disorder of development or morphogenesis' 'developmental defect during embryogenesis' SubClassOf 'congenital abnormality' http://purl.obolibrary.org/obo/MONDO_0019751 autoinflammatory syndrome 'autoinflammatory syndrome' SubClassOf 'disease of macromolecular complex' 'autoinflammatory syndrome' SubClassOf 'has modifier' some 'rare' 'autoinflammatory syndrome' DisjointWith 'infectious disease' 'autoinflammatory syndrome' SubClassOf 'syndromic disease' 'autoinflammatory syndrome' SubClassOf 'rheumatic disease' http://purl.obolibrary.org/obo/MONDO_0007788 hypertriglyceridemia, familial 'hypertriglyceridemia, familial' SubClassOf 'Major hypertriglyceridemia' 'hypertriglyceridemia, familial' SubClassOf 'Hypertriglyceridemia' 'hypertriglyceridemia, familial' EquivalentTo 'Hypertriglyceridemia' and ('has modifier' some 'inherited') http://purl.obolibrary.org/obo/UBERON_0035076 parotid gland myoepithelium 'parotid gland myoepithelium' SubClassOf 'myoepithelium' 'parotid gland myoepithelium' SubClassOf 'epithelium of parotid gland' http://purl.obolibrary.org/obo/UBERON_0035077 lateral nasal gland 'lateral nasal gland' SubClassOf 'gland of nasal mucosa' http://purl.obolibrary.org/obo/UBERON_0035079 deep intraparotid lymph node 'deep intraparotid lymph node' SubClassOf 'intraparotid lymph node' http://purl.obolibrary.org/obo/MONDO_0017104 central nervous system cystic malformation 'central nervous system cystic malformation' SubClassOf 'Genetic non-syndromic central nervous system malformation' http://purl.obolibrary.org/obo/UBERON_0035040 superior rectal artery 'superior rectal artery' SubClassOf 'systemic artery' 'superior rectal artery' SubClassOf 'rectal artery' http://purl.obolibrary.org/obo/UBERON_0035041 deep temporal artery 'deep temporal artery' SubClassOf 'temporal artery' http://purl.obolibrary.org/obo/UBERON_0035042 middle temporal artery 'middle temporal artery' SubClassOf 'temporal artery' 'middle temporal artery' SubClassOf 'systemic artery' http://purl.obolibrary.org/obo/MONDO_0007796 hypoparathyroidism, familial isolated; FIH 'hypoparathyroidism, familial isolated; FIH' SubClassOf 'Familial isolated hypoparathyroidism' http://purl.obolibrary.org/obo/UBERON_0035043 temporal branch of lateral pretrosal artery 'temporal branch of lateral pretrosal artery' SubClassOf 'temporal artery' 'temporal branch of lateral pretrosal artery' SubClassOf 'systemic artery' 'temporal branch of lateral pretrosal artery' SubClassOf 'palpebral artery' http://purl.obolibrary.org/obo/MONDO_0044743 major salivary gland cancer 'major salivary gland cancer' SubClassOf 'salivary gland cancer' 'major salivary gland cancer' SubClassOf 'neoplasm of major salivary gland' http://purl.obolibrary.org/obo/UBERON_0011079 angular bone 'angular bone' SubClassOf 'dermal bone' 'angular bone' SubClassOf 'bone of lower jaw' http://purl.obolibrary.org/obo/MONDO_0044744 prekallikrein deficiency 'prekallikrein deficiency' SubClassOf 'blood coagulation disease' http://purl.obolibrary.org/obo/MONDO_0044746 zoonotic bacterial infection 'zoonotic bacterial infection' SubClassOf 'zoonoses' 'zoonotic bacterial infection' SubClassOf 'bacterial disease' http://purl.obolibrary.org/obo/MONDO_0005149 pulmonary hypertension 'pulmonary hypertension' SubClassOf 'hypertension' http://purl.obolibrary.org/obo/MONDO_0044751 chronic diarrheal disease 'chronic diarrheal disease' SubClassOf 'diarrheal disease' http://purl.obolibrary.org/obo/MONDO_0044750 lassa virus infectious disease 'lassa virus infectious disease' SubClassOf 'Arenaviridae infectious disease' http://purl.obolibrary.org/obo/MONDO_0019787 autoimmune enteropathy 'autoimmune enteropathy' SubClassOf 'has modifier' some 'rare' 'autoimmune enteropathy' SubClassOf 'autoimmune disease of gastrointestinal tract' 'autoimmune enteropathy' SubClassOf 'malabsorption syndrome' http://purl.obolibrary.org/obo/MONDO_0019781 astrocytoma (excluding glioblastoma) 'astrocytoma (excluding glioblastoma)' SubClassOf 'astrocytoma' http://purl.obolibrary.org/obo/MONDO_0017120 other syndrome with a central nervous system malformation as major feature 'other syndrome with a central nervous system malformation as major feature' SubClassOf 'Genetic syndrome with a central nervous system malformation as major feature' http://purl.obolibrary.org/obo/UBERON_0011096 lacrimal nerve 'lacrimal nerve' SubClassOf 'nerve of head region' http://purl.obolibrary.org/obo/MONDO_0044727 pancreatic carcinoma with mixed differentiation 'pancreatic carcinoma with mixed differentiation' SubClassOf 'Digestive System Mixed Adenoneuroendocrine Carcinoma' 'pancreatic carcinoma with mixed differentiation' SubClassOf 'pancreatic carcinoma' 'pancreatic carcinoma with mixed differentiation' EquivalentTo 'pancreatic carcinoma' and 'Digestive System Mixed Adenoneuroendocrine Carcinoma' http://purl.obolibrary.org/obo/UBERON_0035032 abdominal oblique muscle 'abdominal oblique muscle' SubClassOf 'anterior abdominal wall muscle' http://purl.obolibrary.org/obo/UBERON_0011087 pharyngeal arch 7 'pharyngeal arch 7' SubClassOf 'post-hyoid pharyngeal arch' http://purl.obolibrary.org/obo/UBERON_0011088 ligament of knee joint 'ligament of knee joint' SubClassOf 'skeletal ligament' http://purl.obolibrary.org/obo/UBERON_0035034 eyelid epithelium 'eyelid epithelium' SubClassOf 'eye epithelium' http://purl.obolibrary.org/obo/UBERON_0035036 naris epithelium 'naris epithelium' SubClassOf 'epithelium' http://purl.obolibrary.org/obo/UBERON_0035037 jaw epithelium 'jaw epithelium' SubClassOf 'digestive tract epithelium' http://purl.obolibrary.org/obo/UBERON_0035039 rectal artery 'rectal artery' SubClassOf 'artery' http://purl.obolibrary.org/obo/MONDO_0017142 rare hemorrhagic disorder due to a qualitative platelet defect 'rare hemorrhagic disorder due to a qualitative platelet defect' SubClassOf 'Rare hemorrhagic disorder due to a constitutional platelet anomaly' http://purl.obolibrary.org/obo/MONDO_0044782 esophageal ulcer 'esophageal ulcer' SubClassOf 'ulcer disease' 'esophageal ulcer' SubClassOf 'esophageal disease' http://purl.obolibrary.org/obo/UBERON_2005219 choroid plexus vascular circuit 'choroid plexus vascular circuit' SubClassOf 'vasculature of brain' http://purl.obolibrary.org/obo/MONDO_0017159 syndrome with pulmonary hypertension as a major feature 'syndrome with pulmonary hypertension as a major feature' SubClassOf 'pulmonary hypertension' 'syndrome with pulmonary hypertension as a major feature' SubClassOf 'disease has major feature' some 'pulmonary hypertension' 'syndrome with pulmonary hypertension as a major feature' SubClassOf 'syndromic disease' 'syndrome with pulmonary hypertension as a major feature' SubClassOf 'has modifier' some 'rare' 'syndrome with pulmonary hypertension as a major feature' EquivalentTo 'syndromic disease' and ('disease has major feature' some 'pulmonary hypertension') http://purl.obolibrary.org/obo/MONDO_0017166 rare tumor of salivary glands 'rare tumor of salivary glands' SubClassOf 'head and neck neoplasia' 'rare tumor of salivary glands' SubClassOf 'has modifier' some 'rare' 'rare tumor of salivary glands' SubClassOf 'digestive system neoplasm' http://purl.obolibrary.org/obo/MONDO_0017167 malignant epithelial tumor of salivary glands 'malignant epithelial tumor of salivary glands' SubClassOf 'rare tumor of salivary glands' http://purl.obolibrary.org/obo/MONDO_0017181 hypnic headache (disease) 'hypnic headache (disease)' SubClassOf 'has modifier' some 'rare' 'hypnic headache (disease)' SubClassOf 'headache disorder' http://purl.obolibrary.org/obo/MONDO_0044765 steroid-resistant nephrotic syndrome 'steroid-resistant nephrotic syndrome' SubClassOf 'nephrotic syndrome' http://purl.obolibrary.org/obo/UBERON_2005259 continuous capillary 'continuous capillary' SubClassOf 'capillary' 'continuous capillary' SubClassOf 'blood vessel endothelium' http://purl.obolibrary.org/obo/UBERON_2005245 inter-parietal joint 'inter-parietal joint' SubClassOf 'fibrous joint' http://purl.obolibrary.org/obo/UBERON_2005248 trans-choroid plexus branch 'trans-choroid plexus branch' SubClassOf 'brain blood vessel' 'trans-choroid plexus branch' SubClassOf 'vein' http://purl.obolibrary.org/obo/UBERON_2005226 median fin proximal radial bone 'median fin proximal radial bone' SubClassOf 'median fin radial bone' http://purl.obolibrary.org/obo/UBERON_2005225 median fin radial bone 'median fin radial bone' SubClassOf 'radial bone' http://purl.obolibrary.org/obo/MONDO_0056799 synovium disease 'synovium disease' SubClassOf 'musculoskeletal system disease' http://purl.obolibrary.org/obo/UBERON_0001743 ligament of larynx 'ligament of larynx' SubClassOf 'nonskeletal ligament' http://purl.obolibrary.org/obo/UBERON_2005295 axial blood vessel 'axial blood vessel' SubClassOf 'axial vasculature' http://purl.obolibrary.org/obo/UBERON_0001745 secondary nodular lymphoid tissue 'secondary nodular lymphoid tissue' SubClassOf 'lymphoid follicle' http://purl.obolibrary.org/obo/UBERON_0013739 base of crypt of Lieberkuhn 'base of crypt of Lieberkuhn' SubClassOf 'epithelium of crypt of Lieberkuhn' http://purl.obolibrary.org/obo/UBERON_0001740 arytenoid cartilage 'arytenoid cartilage' SubClassOf 'laryngeal cartilage' http://purl.obolibrary.org/obo/UBERON_0001742 epiglottic cartilage 'epiglottic cartilage' SubClassOf 'laryngeal cartilage' http://purl.obolibrary.org/obo/UBERON_0013725 anterior talofibular ligament 'anterior talofibular ligament' DisjointWith 'posterior talofibular ligament' 'anterior talofibular ligament' SubClassOf 'talofibular ligament' http://purl.obolibrary.org/obo/UBERON_0013727 notochordal fluid 'notochordal fluid' SubClassOf 'bodily fluid' http://purl.obolibrary.org/obo/UBERON_0013726 posterior talofibular ligament 'posterior talofibular ligament' SubClassOf 'talofibular ligament' 'anterior talofibular ligament' DisjointWith 'posterior talofibular ligament' http://purl.obolibrary.org/obo/UBERON_0001750 lacrimal apparatus 'lacrimal apparatus' SubClassOf 'anatomical system' http://purl.obolibrary.org/obo/UBERON_2005270 depressor muscle 'depressor muscle' SubClassOf 'skeletal muscle tissue' http://purl.obolibrary.org/obo/UBERON_0001765 mammary duct 'mammary duct' SubClassOf 'epithelium of mammary gland' 'mammary duct' SubClassOf 'epithelial tube' http://purl.obolibrary.org/obo/UBERON_2005273 intestinal mucosal muscle 'intestinal mucosal muscle' SubClassOf 'intestine smooth muscle' http://purl.obolibrary.org/obo/UBERON_2005278 preopercle vertical limb-hyomandibula joint 'preopercle vertical limb-hyomandibula joint' SubClassOf 'skeletal joint' http://purl.obolibrary.org/obo/UBERON_2005276 inclinator muscle 'inclinator muscle' SubClassOf 'skeletal muscle tissue' http://purl.obolibrary.org/obo/UBERON_2005279 enteric circular muscle 'enteric circular muscle' SubClassOf 'smooth muscle tissue' http://purl.obolibrary.org/obo/UBERON_0013757 capillary blood 'capillary blood' SubClassOf 'blood' http://purl.obolibrary.org/obo/UBERON_0013756 venous blood 'venous blood' SubClassOf 'blood' http://purl.obolibrary.org/obo/UBERON_0013755 arterial blood 'arterial blood' SubClassOf 'blood' http://purl.obolibrary.org/obo/UBERON_0001762 turbinate bone 'turbinate bone' SubClassOf 'endochondral bone' 'turbinate bone' SubClassOf 'neurocranium bone' http://purl.obolibrary.org/obo/UBERON_0001763 odontogenic papilla 'odontogenic papilla' SubClassOf 'mesenchyme derived from head neural crest' http://purl.obolibrary.org/obo/UBERON_0001776 optic choroid 'optic choroid' SubClassOf 'vasculature of eye' http://purl.obolibrary.org/obo/UBERON_0001778 ciliary epithelium 'ciliary epithelium' SubClassOf 'atypical epithelium' 'ciliary epithelium' SubClassOf 'eye epithelium' http://purl.obolibrary.org/obo/UBERON_2005260 fenestrated capillary 'fenestrated capillary' SubClassOf 'capillary' 'fenestrated capillary' SubClassOf 'blood vessel endothelium' http://purl.obolibrary.org/obo/UBERON_2005267 erector muscle 'erector muscle' SubClassOf 'skeletal muscle tissue' http://purl.obolibrary.org/obo/UBERON_2005264 supraoccipital-parietal joint 'supraoccipital-parietal joint' SubClassOf 'skeletal joint' http://purl.obolibrary.org/obo/UBERON_2005265 hyomandibula-opercle joint 'hyomandibula-opercle joint' SubClassOf 'skeletal joint' http://purl.obolibrary.org/obo/UBERON_0013743 base of crypt of Lieberkuhn of small intestine 'base of crypt of Lieberkuhn of small intestine' SubClassOf 'epithelium of small intestine' 'base of crypt of Lieberkuhn of small intestine' SubClassOf 'base of crypt of Lieberkuhn' http://purl.obolibrary.org/obo/UBERON_0013742 wall of crypt of Lieberkuhn of large intestine 'wall of crypt of Lieberkuhn of large intestine' SubClassOf 'wall of crypt of Lieberkuhn' 'wall of crypt of Lieberkuhn of large intestine' SubClassOf 'epithelium of large intestine' http://purl.obolibrary.org/obo/UBERON_0013741 base of crypt of Lieberkuhn of large intestine 'base of crypt of Lieberkuhn of large intestine' SubClassOf 'base of crypt of Lieberkuhn' 'base of crypt of Lieberkuhn of large intestine' SubClassOf 'epithelium of large intestine' http://purl.obolibrary.org/obo/UBERON_2005268 preopercle horizontal limb-symplectic joint 'preopercle horizontal limb-symplectic joint' SubClassOf 'skeletal joint' http://purl.obolibrary.org/obo/UBERON_0013740 wall of crypt of Lieberkuhn 'wall of crypt of Lieberkuhn' SubClassOf 'epithelium of crypt of Lieberkuhn' http://purl.obolibrary.org/obo/UBERON_0013747 basibranchial cartilage 'basibranchial cartilage' SubClassOf 'pharyngeal arch cartilage' http://purl.obolibrary.org/obo/UBERON_0013744 wall of crypt of Lieberkuhn of small intestine 'wall of crypt of Lieberkuhn of small intestine' SubClassOf 'wall of crypt of Lieberkuhn' 'wall of crypt of Lieberkuhn of small intestine' SubClassOf 'epithelium of small intestine' http://purl.obolibrary.org/obo/UBERON_0001701 glossopharyngeal ganglion 'glossopharyngeal ganglion' SubClassOf 'epibranchial ganglion' http://purl.obolibrary.org/obo/UBERON_0001702 eyelash 'eyelash' SubClassOf 'strand of hair' http://purl.obolibrary.org/obo/UBERON_0001712 upper eyelid 'upper eyelid' SubClassOf 'eyelid' http://purl.obolibrary.org/obo/UBERON_0001713 lower eyelid 'lower eyelid' SubClassOf 'eyelid' http://purl.obolibrary.org/obo/UBERON_0001725 cranial synchondrosis 'cranial synchondrosis' SubClassOf 'synchondrosis' http://purl.obolibrary.org/obo/UBERON_0001738 thyroid cartilage 'thyroid cartilage' SubClassOf 'laryngeal cartilage' http://purl.obolibrary.org/obo/UBERON_0001739 laryngeal cartilage 'laryngeal cartilage' SubClassOf 'pharyngeal arch cartilage' http://purl.obolibrary.org/obo/UBERON_0001735 tonsillar ring 'tonsillar ring' SubClassOf 'gut-associated lymphoid tissue' http://purl.obolibrary.org/obo/UBERON_0013700 axial musculature 'axial musculature' SubClassOf 'musculature' http://purl.obolibrary.org/obo/UBERON_0013705 fascia of Scarpa 'fascia of Scarpa' SubClassOf 'abdominal fat pad' http://purl.obolibrary.org/obo/UBERON_0001730 extrinsic ligament of larynx 'extrinsic ligament of larynx' SubClassOf 'ligament of larynx' http://purl.obolibrary.org/obo/HP_0011106 hypovolemia 'hypovolemia' SubClassOf 'abnormality of blood and blood-forming tissues' http://purl.obolibrary.org/obo/UBERON_0008194 tibiotarsus 'tibiotarsus' SubClassOf 'hindlimb bone' http://purl.obolibrary.org/obo/UBERON_0008193 pneumatized bone 'pneumatized bone' SubClassOf 'bone' http://purl.obolibrary.org/obo/UBERON_0035783 ganglion of ciliary nerve 'ganglion of ciliary nerve' SubClassOf 'parasympathetic ganglion' http://purl.obolibrary.org/obo/UBERON_0008196 muscle of pectoral girdle 'muscle of pectoral girdle' SubClassOf 'pectoral complex muscle' http://purl.obolibrary.org/obo/UBERON_0008195 tarsometatarsus 'tarsometatarsus' SubClassOf 'pes bone' http://purl.obolibrary.org/obo/MONDO_0019601 autosomal recessive axonal hereditary motor and sensory neuropathy 'autosomal recessive axonal hereditary motor and sensory neuropathy' SubClassOf 'axonal hereditary motor and sensory neuropathy' 'autosomal recessive axonal hereditary motor and sensory neuropathy' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0007648 hereditary diffuse gastric adenocarcinoma 'hereditary diffuse gastric adenocarcinoma' SubClassOf 'Genetic gastro-esophageal disease' 'hereditary diffuse gastric adenocarcinoma' EquivalentTo 'diffuse gastric adenocarcinoma' and ('has modifier' some 'inherited') 'hereditary diffuse gastric adenocarcinoma' SubClassOf 'hereditary gastric cancer' 'hereditary diffuse gastric adenocarcinoma' SubClassOf 'diffuse gastric adenocarcinoma' 'hereditary diffuse gastric adenocarcinoma' SubClassOf 'esophageal carcinoma' http://purl.obolibrary.org/obo/MONDO_0020606 sex-linked disease 'sex-linked disease' SubClassOf 'monogenic disease' http://purl.obolibrary.org/obo/MONDO_0020605 X-linked recessive disease 'X-linked recessive disease' SubClassOf 'X-linked disease' http://purl.obolibrary.org/obo/MONDO_0019624 acquired angioedema 'acquired angioedema' SubClassOf 'non-histaminic angioedema' 'acquired angioedema' SubClassOf 'has modifier' some 'acquired' 'acquired angioedema' EquivalentTo 'angioedema' and ('has modifier' some 'acquired') http://purl.obolibrary.org/obo/MONDO_0020601 mosquito-borne viral encephalitis 'mosquito-borne viral encephalitis' SubClassOf 'viral encephalitis' http://purl.obolibrary.org/obo/MONDO_0007653 genochondromatosis 'genochondromatosis' SubClassOf 'inherited genetic disease' http://purl.obolibrary.org/obo/MONDO_0020639 monosomy 'monosomy' SubClassOf 'Chromosomal anomaly' http://purl.obolibrary.org/obo/MONDO_0020637 mendelian susceptibility to mycobacterial diseases due to a partial deficiency 'mendelian susceptibility to mycobacterial diseases due to a complete deficiency' DisjointWith 'mendelian susceptibility to mycobacterial diseases due to a partial deficiency' 'mendelian susceptibility to mycobacterial diseases due to a partial deficiency' SubClassOf 'Mendelian susceptibility to mycobacterial diseases' http://purl.obolibrary.org/obo/MONDO_0020636 mendelian susceptibility to mycobacterial diseases due to a complete deficiency 'mendelian susceptibility to mycobacterial diseases due to a complete deficiency' DisjointWith 'mendelian susceptibility to mycobacterial diseases due to a partial deficiency' 'mendelian susceptibility to mycobacterial diseases due to a complete deficiency' SubClassOf 'Mendelian susceptibility to mycobacterial diseases' http://purl.obolibrary.org/obo/MONDO_0020633 anaplastic cancer 'anaplastic cancer' SubClassOf 'cancer' http://purl.obolibrary.org/obo/MONDO_0020629 microcephaly, growth restriction and increased sister chromatid exchange 'microcephaly, growth restriction and increased sister chromatid exchange' SubClassOf 'DNA repair defect other than combined T-cell and B-cell immunodeficiencies' http://purl.obolibrary.org/obo/MONDO_0020653 vaginal adenocarcinoma 'vaginal adenocarcinoma' SubClassOf 'vaginal glandular neoplasm' 'vaginal adenocarcinoma' SubClassOf 'vaginal carcinoma' 'vaginal adenocarcinoma' SubClassOf 'adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0020657 human papillomavirus-related squamous cell carcinoma 'human papillomavirus-related squamous cell carcinoma' SubClassOf 'squamous cell carcinoma' 'human papillomavirus-related squamous cell carcinoma' EquivalentTo 'squamous cell carcinoma' and ('disease arises from feature' some 'human papilloma virus infection') 'human papillomavirus-related squamous cell carcinoma' SubClassOf 'disease arises from feature' some 'human papilloma virus infection' 'human papillomavirus-related squamous cell carcinoma' SubClassOf 'virus associated tumor' http://purl.obolibrary.org/obo/MONDO_0020654 renal pelvis/ureter urothelial carcinoma 'renal pelvis/ureter urothelial carcinoma' SubClassOf 'urothelial carcinoma' http://purl.obolibrary.org/obo/MONDO_0020642 polycystic kidney disease 'polycystic kidney disease' SubClassOf 'Cystic Kidney Disease' http://purl.obolibrary.org/obo/MONDO_0020641 respiratory tract neoplasm 'respiratory tract neoplasm' SubClassOf 'respiratory system disease' 'respiratory tract neoplasm' SubClassOf 'respiratory system neoplasm' http://purl.obolibrary.org/obo/MONDO_0020648 rubella encephalitis 'rubella encephalitis' SubClassOf 'disease arises from feature' some 'rubella' 'rubella encephalitis' SubClassOf 'postinfectious encephalitis' 'rubella encephalitis' EquivalentTo 'encephalitis' and ('disease arises from feature' some 'rubella') 'rubella encephalitis' SubClassOf 'post-viral disorder' http://purl.obolibrary.org/obo/MONDO_0020645 autosomal dominant osteopetrosis 'autosomal dominant osteopetrosis' SubClassOf 'Osteopetrosis' 'autosomal dominant osteopetrosis' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0020644 lung non-Hodgkin lymphoma 'lung non-Hodgkin lymphoma' SubClassOf 'non-Hodgkins lymphoma' 'lung non-Hodgkin lymphoma' SubClassOf 'lung lymphoma' http://purl.obolibrary.org/obo/MONDO_0029001 chemically-induced disorder 'chemically-induced disorder' SubClassOf 'radiation or chemically induced disorder' http://purl.obolibrary.org/obo/MONDO_0020674 vascular insufficiency disorder 'vascular insufficiency disorder' SubClassOf 'vascular disease' http://purl.obolibrary.org/obo/MONDO_0020672 vascular occlusion disorder 'vascular occlusion disorder' SubClassOf 'vascular disease' http://purl.obolibrary.org/obo/MONDO_0017016 primary interstitial lung disease specific to childhood due to alveolar structure disorder 'primary interstitial lung disease specific to childhood due to alveolar structure disorder' SubClassOf 'primary interstitial lung disease specific to childhood' http://purl.obolibrary.org/obo/MONDO_0017017 primary interstitial lung disease specific to childhood due to alveolar vascular disorder 'primary interstitial lung disease specific to childhood due to alveolar vascular disorder' SubClassOf 'primary interstitial lung disease specific to childhood' http://purl.obolibrary.org/obo/MONDO_0020676 disease of central nervous system or retinal vasculature 'disease of central nervous system or retinal vasculature' SubClassOf 'vascular disease' http://purl.obolibrary.org/obo/MONDO_0017014 interstitial lung disease specific to childhood 'interstitial lung disease specific to childhood' SubClassOf 'interstitial lung disease' http://purl.obolibrary.org/obo/MONDO_0017015 primary interstitial lung disease specific to childhood 'primary interstitial lung disease specific to childhood' SubClassOf 'interstitial lung disease specific to childhood' http://purl.obolibrary.org/obo/MONDO_0020663 malignant spindle cell neoplasm 'malignant spindle cell neoplasm' SubClassOf 'cancer' 'malignant spindle cell neoplasm' SubClassOf 'spindle cell tumor' http://purl.obolibrary.org/obo/MONDO_0005042 head disease 'head disease' SubClassOf 'head and neck disorder' http://purl.obolibrary.org/obo/MONDO_0020669 paranasal sinus cancer 'paranasal sinus cancer' SubClassOf 'skull cancer' 'paranasal sinus cancer' SubClassOf 'paranasal sinus neoplasm' 'paranasal sinus cancer' SubClassOf 'sensory system cancer' 'paranasal sinus cancer' SubClassOf 'respiratory system cancer' http://purl.obolibrary.org/obo/MONDO_0017027 primary interstitial lung disease specific to adulthood 'primary interstitial lung disease specific to adulthood' SubClassOf 'interstitial lung disease specific to adulthood' http://purl.obolibrary.org/obo/MONDO_0017028 secondary interstitial lung disease specific to adulthood associated with a systemic disease 'secondary interstitial lung disease specific to adulthood associated with a systemic disease' SubClassOf 'interstitial lung disease specific to adulthood' http://purl.obolibrary.org/obo/MONDO_0020665 high grade malignant neoplasm 'high grade malignant neoplasm' SubClassOf 'cancer' 'high grade malignant neoplasm' SubClassOf 'has modifier' some 'tumor grade 3 or 4, general grading system' 'high grade malignant neoplasm' EquivalentTo 'cancer' and ('has modifier' some 'tumor grade 3 or 4, general grading system') http://purl.obolibrary.org/obo/MONDO_0017023 secondary interstitial lung disease specific to childhood associated with a granulomatous disease 'secondary interstitial lung disease specific to childhood associated with a granulomatous disease' SubClassOf 'secondary interstitial lung disease specific to childhood associated with a systemic disease' http://purl.obolibrary.org/obo/MONDO_0017024 secondary interstitial lung disease specific to childhood associated with a metabolic disease 'secondary interstitial lung disease specific to childhood associated with a metabolic disease' SubClassOf 'secondary interstitial lung disease specific to childhood associated with a systemic disease' http://purl.obolibrary.org/obo/MONDO_0017026 interstitial lung disease specific to adulthood 'interstitial lung disease specific to adulthood' SubClassOf 'interstitial lung disease' http://purl.obolibrary.org/obo/MONDO_0017020 secondary interstitial lung disease specific to childhood associated with a systemic disease 'secondary interstitial lung disease specific to childhood associated with a systemic disease' SubClassOf 'interstitial lung disease specific to childhood' http://purl.obolibrary.org/obo/MONDO_0017021 secondary interstitial lung disease specific to childhood associated with a connective tissue disease 'secondary interstitial lung disease specific to childhood associated with a connective tissue disease' SubClassOf 'secondary interstitial lung disease specific to childhood associated with a systemic disease' http://purl.obolibrary.org/obo/MONDO_0005053 ischemic disease 'ischemic disease' SubClassOf 'vascular disease' http://purl.obolibrary.org/obo/MONDO_0017038 secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis 'secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis' SubClassOf 'secondary interstitial lung disease in childhood and adulthood associated with a systemic disease' http://purl.obolibrary.org/obo/MONDO_0020699 biotin metabolic disease 'biotin metabolic disease' SubClassOf 'sulfur metabolism disease' 'biotin metabolic disease' SubClassOf 'disorder of organic acid metabolism' http://purl.obolibrary.org/obo/MONDO_0020698 inborn error of biotin metabolism 'inborn error of biotin metabolism' SubClassOf 'Organic aciduria' 'inborn error of biotin metabolism' SubClassOf 'nutritional biotin deficiency' 'inborn error of biotin metabolism' SubClassOf 'vitamin metabolic disorder' http://purl.obolibrary.org/obo/MONDO_0017034 secondary interstitial lung disease in childhood and adulthood 'secondary interstitial lung disease in childhood and adulthood' SubClassOf 'interstitial lung disease in childhood and adulthood' http://purl.obolibrary.org/obo/MONDO_0017035 secondary interstitial lung disease in childhood and adulthood associated with a systemic disease 'secondary interstitial lung disease in childhood and adulthood associated with a systemic disease' SubClassOf 'secondary interstitial lung disease in childhood and adulthood' http://purl.obolibrary.org/obo/MONDO_0017037 secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease 'secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease' SubClassOf 'secondary interstitial lung disease in childhood and adulthood associated with a systemic disease' http://purl.obolibrary.org/obo/MONDO_0017030 interstitial lung disease in childhood and adulthood 'interstitial lung disease in childhood and adulthood' SubClassOf 'interstitial lung disease' http://purl.obolibrary.org/obo/MONDO_0017031 primary interstitial lung disease in childhood and adulthood 'primary interstitial lung disease in childhood and adulthood' SubClassOf 'interstitial lung disease in childhood and adulthood' http://purl.obolibrary.org/obo/MONDO_0017032 primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder 'primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder' SubClassOf 'primary interstitial lung disease in childhood and adulthood' http://purl.obolibrary.org/obo/MONDO_0020683 acute disease 'acute disease' SubClassOf 'disease' http://purl.obolibrary.org/obo/UBERON_0011826 vestibular gland 'vestibular gland' SubClassOf 'female reproductive gland' http://purl.obolibrary.org/obo/UBERON_0035815 paracardial fat 'paracardial fat' SubClassOf 'pericardial fat' http://purl.obolibrary.org/obo/MONDO_0020687 supratentorial ependymal tumor 'supratentorial ependymal tumor' SubClassOf 'ependymal tumor of brain' http://purl.obolibrary.org/obo/UBERON_0035818 visceral fat 'visceral fat' SubClassOf 'adipose tissue' http://purl.obolibrary.org/obo/UBERON_0011827 areolar gland 'areolar gland' SubClassOf 'sebaceous gland' http://purl.obolibrary.org/obo/UBERON_0008202 bone of hip region 'bone of hip region' SubClassOf 'bone' http://purl.obolibrary.org/obo/UBERON_0008201 scute 'scute' SubClassOf 'epidermal scale' http://purl.obolibrary.org/obo/UBERON_0011844 duct of areolar gland 'duct of areolar gland' SubClassOf 'mammary duct' http://purl.obolibrary.org/obo/UBERON_0011814 non-neurogenic ectodermal placode 'neurogenic placode' DisjointWith 'non-neurogenic ectodermal placode' 'non-neurogenic ectodermal placode' SubClassOf 'ectodermal placode' http://purl.obolibrary.org/obo/UBERON_0011817 skin appendage placode 'skin appendage placode' SubClassOf 'non-neurogenic ectodermal placode' 'skin appendage placode' SubClassOf 'presumptive structure' http://purl.obolibrary.org/obo/MONDO_0044699 SIN3A-related intellectual disability syndrome 'SIN3A-related intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' 'SIN3A-related intellectual disability syndrome' SubClassOf 'congenital nervous system disorder' 'SIN3A-related intellectual disability syndrome' SubClassOf 'Rare genetic neurological disorder' 'SIN3A-related intellectual disability syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/UBERON_0011804 feather bud, epidermal component 'feather bud, epidermal component' SubClassOf 'ecto-epithelium' 'feather bud, epidermal component' SubClassOf 'epithelial bud' http://purl.obolibrary.org/obo/UBERON_0008260 spine appendage 'spine appendage' SubClassOf 'appendage' http://purl.obolibrary.org/obo/UBERON_0035880 zygomaticomaxillary suture 'zygomaticomaxillary suture' SubClassOf 'cranial suture' http://purl.obolibrary.org/obo/UBERON_0035881 ethmoidomaxillary suture 'ethmoidomaxillary suture' SubClassOf 'cranial suture' http://purl.obolibrary.org/obo/UBERON_0035882 sphenomaxillary suture 'sphenomaxillary suture' SubClassOf 'cranial suture' http://purl.obolibrary.org/obo/UBERON_0035883 lacrimomaxillary suture 'lacrimomaxillary suture' SubClassOf 'cranial suture' http://purl.obolibrary.org/obo/UBERON_0035884 maxillary-premaxillary suture 'maxillary-premaxillary suture' SubClassOf 'cranial suture' 'maxillary-premaxillary suture' SubClassOf 'premaxillary-maxillary joint' http://purl.obolibrary.org/obo/UBERON_0008257 radial sesamoid 'radial sesamoid' SubClassOf 'sesamoid bone of manus' 'radial sesamoid' SubClassOf 'carpal bone' http://purl.obolibrary.org/obo/UBERON_0008256 left clavicle 'left clavicle' SubClassOf 'clavicle bone' http://purl.obolibrary.org/obo/UBERON_0008255 right clavicle 'right clavicle' SubClassOf 'clavicle bone' http://purl.obolibrary.org/obo/UBERON_0008251 water vascular system 'water vascular system' SubClassOf 'anatomical system' http://purl.obolibrary.org/obo/UBERON_0008268 right supracardinal vein 'right supracardinal vein' SubClassOf 'supracardinal vein' http://purl.obolibrary.org/obo/UBERON_0008267 left supracardinal vein 'left supracardinal vein' SubClassOf 'supracardinal vein' http://purl.obolibrary.org/obo/UBERON_0008266 periodontal ligament 'periodontal ligament' SubClassOf 'skeletal ligament' http://purl.obolibrary.org/obo/UBERON_0008265 echinopluteus larva 'echinopluteus larva' SubClassOf 'larva' http://purl.obolibrary.org/obo/UBERON_0008264 echinopluteus larval stage 'echinopluteus larval stage' SubClassOf 'larval stage' http://purl.obolibrary.org/obo/UBERON_0008261 pedicellaria 'pedicellaria' SubClassOf 'appendage' http://purl.obolibrary.org/obo/UBERON_0008280 cnidarian venom 'cnidarian venom' SubClassOf 'venom' http://purl.obolibrary.org/obo/UBERON_0008274 mollusc venom 'mollusc venom' SubClassOf 'venom' http://purl.obolibrary.org/obo/UBERON_0008293 filoplume feather 'filoplume feather' SubClassOf 'feather' http://purl.obolibrary.org/obo/UBERON_0008292 vaned feather 'vaned feather' SubClassOf 'feather' 'down feather' DisjointWith 'vaned feather' http://purl.obolibrary.org/obo/UBERON_0008291 down feather 'down feather' SubClassOf 'feather' 'down feather' DisjointWith 'vaned feather' http://purl.obolibrary.org/obo/UBERON_0035879 frontomaxillary suture 'frontomaxillary suture' SubClassOf 'cranial suture' http://purl.obolibrary.org/obo/UBERON_0008285 rumen epithelium 'rumen epithelium' SubClassOf 'stomach non-glandular epithelium' http://purl.obolibrary.org/obo/UBERON_0011873 synarthrosis 'synarthrosis' SubClassOf 'skeletal joint' http://purl.obolibrary.org/obo/UBERON_0035840 esophagogastric junction muscularis mucosa 'esophagogastric junction muscularis mucosa' SubClassOf 'muscularis mucosa' http://purl.obolibrary.org/obo/UBERON_0011870 pisotriquetral joint 'pisotriquetral joint' SubClassOf 'intercarpal joint' http://purl.obolibrary.org/obo/UBERON_0011871 nasomaxillary suture 'nasomaxillary suture' SubClassOf 'cranial suture' http://purl.obolibrary.org/obo/UBERON_0035842 extensor digitorum brevis manus 'extensor digitorum brevis manus' SubClassOf 'extensor muscle' 'extensor digitorum brevis manus' SubClassOf 'muscle of manus' http://purl.obolibrary.org/obo/UBERON_0035844 lower esophagus muscularis mucosa 'lower esophagus muscularis mucosa' SubClassOf 'esophagus muscularis mucosa' http://purl.obolibrary.org/obo/UBERON_0011874 amphiarthrosis 'amphiarthrosis' SubClassOf 'skeletal joint' http://purl.obolibrary.org/obo/UBERON_0011875 ligament of sternoclavicular joint 'ligament of sternoclavicular joint' SubClassOf 'skeletal ligament' http://purl.obolibrary.org/obo/UBERON_0011866 condylar joint 'condylar joint' SubClassOf 'synovial joint' http://purl.obolibrary.org/obo/UBERON_0011869 pisiform joint 'pisiform joint' SubClassOf 'intercarpal joint' http://purl.obolibrary.org/obo/UBERON_0011867 extensor carpi radialis muscle 'extensor carpi radialis muscle' SubClassOf 'extrinsic extensor muscle of manus' 'extensor carpi radialis muscle' SubClassOf 'muscle of shoulder' http://purl.obolibrary.org/obo/UBERON_0011868 midcarpal joint 'midcarpal joint' SubClassOf 'intercarpal joint' http://purl.obolibrary.org/obo/UBERON_0008229 craniocervical region musculature 'craniocervical region musculature' SubClassOf 'musculature' http://purl.obolibrary.org/obo/UBERON_0011893 endoneurial fluid 'endoneurial fluid' SubClassOf 'secretion of serous gland' http://purl.obolibrary.org/obo/UBERON_0035825 left adrenal gland cortex 'left adrenal gland cortex' SubClassOf 'adrenal cortex' http://purl.obolibrary.org/obo/UBERON_0008230 tibialis 'tibialis' SubClassOf 'flexor muscle' 'tibialis' SubClassOf 'hindlimb zeugopod muscle' http://purl.obolibrary.org/obo/UBERON_0035826 left adrenal gland medulla 'left adrenal gland medulla' SubClassOf 'adrenal medulla' http://purl.obolibrary.org/obo/UBERON_0035827 right adrenal gland cortex 'right adrenal gland cortex' SubClassOf 'adrenal cortex' http://purl.obolibrary.org/obo/UBERON_0035828 right adrenal gland medulla 'right adrenal gland medulla' SubClassOf 'adrenal medulla' http://purl.obolibrary.org/obo/UBERON_0035829 right gastroepiploic artery 'right gastroepiploic artery' SubClassOf 'gastroepiploic artery' 'right gastroepiploic artery' SubClassOf 'systemic artery' http://purl.obolibrary.org/obo/UBERON_0035830 left gastroepiploic artery 'left gastroepiploic artery' SubClassOf 'gastroepiploic artery' 'left gastroepiploic artery' SubClassOf 'systemic artery' http://purl.obolibrary.org/obo/UBERON_0035834 lower esophagus mucosa 'lower esophagus mucosa' SubClassOf 'esophagus mucosa' http://purl.obolibrary.org/obo/UBERON_0008243 upper back muscle 'upper back muscle' SubClassOf 'thoracic segment muscle' 'upper back muscle' SubClassOf 'muscle of back' http://purl.obolibrary.org/obo/UBERON_0008242 lower back muscle 'lower back muscle' SubClassOf 'muscle of back' 'lower back muscle' SubClassOf 'abdominal segment muscle' http://purl.obolibrary.org/obo/UBERON_0035838 esophagogastric junction mucosa 'esophagogastric junction mucosa' SubClassOf 'mucosa' http://purl.obolibrary.org/obo/UBERON_0008247 tube foot 'tube foot' SubClassOf 'appendage' http://purl.obolibrary.org/obo/UBERON_0035662 parotid vein 'parotid vein' SubClassOf 'neck blood vessel' 'parotid vein' SubClassOf 'head blood vessel' 'parotid vein' SubClassOf 'craniocervical region vein' http://purl.obolibrary.org/obo/MONDO_0007500 ear malformation 'ear malformation' SubClassOf 'inherited genetic disease' http://purl.obolibrary.org/obo/UBERON_0035675 anterior facial vein 'retromandibular vein' DisjointWith 'anterior facial vein' 'anterior facial vein' SubClassOf 'neck blood vessel' 'anterior facial vein' SubClassOf 'head blood vessel' 'anterior facial vein' SubClassOf 'craniocervical region vein' http://purl.obolibrary.org/obo/MONDO_0020516 thymic neuroendocrine carcinoma 'thymic neuroendocrine carcinoma' SubClassOf 'Thymic Carcinoma' 'thymic neuroendocrine carcinoma' SubClassOf 'thymic neuroendocrine tumor' 'thymic neuroendocrine carcinoma' SubClassOf 'neuroendocrine carcinoma' http://purl.obolibrary.org/obo/MONDO_0019514 hepatic veno-occlusive disease 'hepatic veno-occlusive disease' SubClassOf 'hepatic vascular disease' 'hepatic veno-occlusive disease' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0020511 precursor B-cell acute lymphoblastic leukemia 'precursor B-cell acute lymphoblastic leukemia' SubClassOf 'acute lymphoblastic leukemia' 'precursor B-cell acute lymphoblastic leukemia' SubClassOf 'aggressive B-cell non-Hodgkin lymphoma' http://purl.obolibrary.org/obo/MONDO_0020539 extragonadal non-dysgerminomatous germ cell tumor 'extragonadal non-dysgerminomatous germ cell tumor' SubClassOf 'extragonadal germ cell tumor' 'extragonadal non-dysgerminomatous germ cell tumor' EquivalentTo 'extragonadal germ cell tumor' and 'nongerminomatous germ cell tumor' 'extragonadal non-dysgerminomatous germ cell tumor' SubClassOf 'nongerminomatous germ cell tumor' http://purl.obolibrary.org/obo/MONDO_0007563 epistaxis, hereditary 'epistaxis, hereditary' SubClassOf 'Rare genetic neurological disorder' 'epistaxis, hereditary' SubClassOf 'epistaxis' 'epistaxis, hereditary' EquivalentTo 'epistaxis' and ('has modifier' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0020529 ACTH-independent Cushing syndrome 'ACTH-independent Cushing syndrome' SubClassOf 'Cushing syndrome' 'ACTH-independent Cushing syndrome' DisjointWith 'pituitary-dependent Cushing's disease' http://purl.obolibrary.org/obo/MONDO_0019546 other acquired skin disease 'other acquired skin disease' SubClassOf 'skin disease' 'other acquired skin disease' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0019541 non-infectious posterior uveitis 'non-infectious posterior uveitis' SubClassOf 'choroiditis' http://purl.obolibrary.org/obo/MONDO_0007576 esophageal cancer 'esophageal cancer' SubClassOf 'digestive system cancer' 'esophageal cancer' SubClassOf 'neoplasm of esophagus' 'esophageal cancer' SubClassOf 'thoracic cancer' http://purl.obolibrary.org/obo/MONDO_0020550 gestational choriocarcinoma 'gestational choriocarcinoma' SubClassOf 'Gestational trophoblastic neoplasm' 'gestational choriocarcinoma' SubClassOf 'choriocarcinoma' 'gestational choriocarcinoma' SubClassOf 'female reproductive organ cancer' 'gestational choriocarcinoma' SubClassOf 'extragonadal nonseminomatous germ cell tumor' http://purl.obolibrary.org/obo/MONDO_0020575 polymorphic ventricular tachycardia 'polymorphic ventricular tachycardia' SubClassOf 'ventricular tachycardia' http://purl.obolibrary.org/obo/MONDO_0020573 inherited disease susceptibility 'inherited disease susceptibility' SubClassOf 'disease susceptibility' 'inherited disease susceptibility' SubClassOf 'has modifier' some 'inherited' 'inherited disease susceptibility' EquivalentTo 'disease susceptibility' and ('has modifier' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0019590 rare endocrine growth disease 'rare endocrine growth disease' SubClassOf 'endocrine system disease' 'rare endocrine growth disease' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0020561 myxoid/round cell liposarcoma 'myxoid/round cell liposarcoma' SubClassOf 'liposarcoma' http://purl.obolibrary.org/obo/MONDO_0019586 X-linked nonsyndromic deafness 'X-linked nonsyndromic deafness' SubClassOf 'X-linked disease' 'X-linked nonsyndromic deafness' SubClassOf 'Postlingual non-syndromic genetic deafness' 'X-linked nonsyndromic deafness' SubClassOf 'Prelingual non-syndromic genetic deafness' http://purl.obolibrary.org/obo/MONDO_0020590 mycobacterial infectious disease 'mycobacterial infectious disease' SubClassOf 'bacterial disease' http://purl.obolibrary.org/obo/MONDO_0020596 mucin-producing carcinoma 'mucin-producing carcinoma' EquivalentTo 'mucinous neoplasm' and 'carcinoma' 'mucin-producing carcinoma' SubClassOf 'mucinous neoplasm' 'mucin-producing carcinoma' SubClassOf 'carcinoma' http://purl.obolibrary.org/obo/MONDO_0020595 disease of retroperitoneum 'disease of retroperitoneum' SubClassOf 'abdominal and pelvic region disorder' http://purl.obolibrary.org/obo/MONDO_0020592 disease of pharynx 'disease of pharynx' SubClassOf 'respiratory system disease' 'disease of pharynx' SubClassOf 'digestive system disease' 'disease of pharynx' SubClassOf 'otorhinolaryngologic disease' http://purl.obolibrary.org/obo/UBERON_0011737 caudate lobe hepatic sinusoid 'caudate lobe hepatic sinusoid' SubClassOf 'hepatic sinusoid of right of lobe of liver' 'caudate lobe hepatic sinusoid' SubClassOf 'hepatic sinusoid of left of lobe of liver' http://purl.obolibrary.org/obo/UBERON_0011738 quadrate lobe hepatic sinusoid 'quadrate lobe hepatic sinusoid' SubClassOf 'hepatic sinusoid of right of lobe of liver' http://purl.obolibrary.org/obo/MONDO_0020599 acquired coagulation factor deficiency 'acquired coagulation factor deficiency' SubClassOf 'has modifier' some 'acquired' 'acquired coagulation factor deficiency' SubClassOf 'coagulation protein disease' 'acquired coagulation factor deficiency' EquivalentTo 'coagulation protein disease' and ('has modifier' some 'acquired') http://purl.obolibrary.org/obo/MONDO_0020587 factor XI deficiency 'factor XI deficiency' SubClassOf 'Hemophilia' 'factor XI deficiency' SubClassOf 'autosomal genetic disease' http://purl.obolibrary.org/obo/MONDO_0020586 factor V deficiency 'factor V deficiency' SubClassOf 'coagulation protein disease' http://purl.obolibrary.org/obo/MONDO_0020585 anemia due to erythrocyte enzyme disorder 'anemia due to erythrocyte enzyme disorder' SubClassOf 'anemia due to enzyme disorder' http://purl.obolibrary.org/obo/MONDO_0020580 germinomatous germ cell tumor 'germinomatous germ cell tumor' SubClassOf 'germ cell tumor' 'germinomatous germ cell tumor' DisjointWith 'nongerminomatous germ cell tumor' http://purl.obolibrary.org/obo/MONDO_0020588 lung PEComa 'lung PEComa' SubClassOf 'lung neoplasm' 'lung PEComa' SubClassOf 'PEComa' http://purl.obolibrary.org/obo/UBERON_0011795 remex feather 'remex feather' SubClassOf 'flight feather' 'remex feather' SubClassOf 'wing feather' http://purl.obolibrary.org/obo/UBERON_0035762 capillary network of kidney 'capillary network of kidney' SubClassOf 'kidney vasculature' 'capillary network of kidney' SubClassOf 'capillary plexus' http://purl.obolibrary.org/obo/UBERON_0011796 primary remex feather 'primary remex feather' SubClassOf 'remex feather' http://purl.obolibrary.org/obo/UBERON_0011793 flight feather 'flight feather' SubClassOf 'pennaceous feather' http://purl.obolibrary.org/obo/UBERON_0035764 pulmonary lymph node 'pulmonary lymph node' SubClassOf 'lymph node' http://purl.obolibrary.org/obo/UBERON_0011794 rectrix feather 'rectrix feather' SubClassOf 'tail feather' 'rectrix feather' SubClassOf 'flight feather' http://purl.obolibrary.org/obo/UBERON_0035765 subsegmental lymph node 'subsegmental lymph node' SubClassOf 'pulmonary lymph node' http://purl.obolibrary.org/obo/UBERON_0035767 intrapulmonary bronchus 'intrapulmonary bronchus' SubClassOf 'bronchus' http://purl.obolibrary.org/obo/UBERON_0011797 secondary remex feather 'secondary remex feather' SubClassOf 'remex feather' http://purl.obolibrary.org/obo/UBERON_0035769 mesenteric ganglion 'mesenteric ganglion' SubClassOf 'prevertebral ganglion' http://purl.obolibrary.org/obo/UBERON_0011798 tertial remex feather 'tertial remex feather' SubClassOf 'remex feather' http://purl.obolibrary.org/obo/UBERON_0011783 feather follicle placode 'feather follicle placode' SubClassOf 'skin appendage placode' http://purl.obolibrary.org/obo/UBERON_0035776 accessory ciliary ganglion 'accessory ciliary ganglion' SubClassOf 'ganglion of ciliary nerve' http://purl.obolibrary.org/obo/UBERON_0035753 capillary plexus 'capillary plexus' SubClassOf 'blood vasculature' http://purl.obolibrary.org/obo/UBERON_0035754 pulmonary capillary plexus 'pulmonary capillary plexus' SubClassOf 'capillary plexus' http://purl.obolibrary.org/obo/UBERON_0035755 systemic capillary plexus 'systemic capillary plexus' SubClassOf 'capillary plexus' http://purl.obolibrary.org/obo/UBERON_0035756 capillary network of liver 'capillary network of liver' SubClassOf 'systemic capillary plexus' 'capillary network of liver' SubClassOf 'vasculature of liver' http://purl.obolibrary.org/obo/UBERON_0035757 embryonic capillary plexus 'embryonic capillary plexus' SubClassOf 'capillary plexus' http://purl.obolibrary.org/obo/UBERON_0035758 peritubular capillary plexus of kidney 'peritubular capillary plexus of kidney' SubClassOf 'capillary network of kidney' http://purl.obolibrary.org/obo/UBERON_0011770 mentomeckelian 'mentomeckelian' SubClassOf 'endochondral bone' 'mentomeckelian' SubClassOf 'bone of lower jaw' http://purl.obolibrary.org/obo/UBERON_0008114 joint of girdle 'joint of girdle' SubClassOf 'skeletal joint' http://purl.obolibrary.org/obo/UBERON_0011779 nerve of head region 'nerve of head region' SubClassOf 'nerve' http://purl.obolibrary.org/obo/UBERON_0011766 left recurrent laryngeal nerve 'left recurrent laryngeal nerve' SubClassOf 'recurrent laryngeal nerve' http://purl.obolibrary.org/obo/UBERON_0011767 right recurrent laryngeal nerve 'right recurrent laryngeal nerve' SubClassOf 'recurrent laryngeal nerve' http://purl.obolibrary.org/obo/UBERON_0011765 jugular lymph sac 'jugular lymph sac' SubClassOf 'embryonic lymph sac' http://purl.obolibrary.org/obo/UBERON_0035597 profundal placode 'profundal placode' SubClassOf 'neurogenic placode' http://purl.obolibrary.org/obo/UBERON_0035598 maxillomandibular placode 'maxillomandibular placode' SubClassOf 'neurogenic placode' http://purl.obolibrary.org/obo/UBERON_0035599 profundal part of trigeminal ganglion complex 'profundal part of trigeminal ganglion complex' SubClassOf 'cranial ganglion' http://purl.obolibrary.org/obo/UBERON_0011593 maxillary tooth 'maxillary tooth' SubClassOf 'tooth of upper jaw' http://purl.obolibrary.org/obo/UBERON_0011594 dentary tooth 'dentary tooth' SubClassOf 'tooth of lower jaw' http://purl.obolibrary.org/obo/UBERON_0011592 future upper lip 'future upper lip' SubClassOf 'epithelium of upper jaw' 'future upper lip' SubClassOf 'unilaminar epithelium' http://purl.obolibrary.org/obo/UBERON_0011597 bone of upper jaw 'bone of upper jaw' SubClassOf 'bone of jaw' http://purl.obolibrary.org/obo/UBERON_0011598 coronoid bone 'coronoid bone' SubClassOf 'dermal bone' 'coronoid bone' SubClassOf 'bone of lower jaw' http://purl.obolibrary.org/obo/UBERON_0011596 future lower lip 'future lower lip' SubClassOf 'epithelium of lower jaw' 'future lower lip' SubClassOf 'unilaminar epithelium' http://purl.obolibrary.org/obo/UBERON_0011580 platypus crural gland 'platypus crural gland' SubClassOf 'venom gland' http://purl.obolibrary.org/obo/UBERON_0035545 deep lymphatic vessel 'deep lymphatic vessel' SubClassOf 'lymphatic vessel' http://purl.obolibrary.org/obo/UBERON_0035546 uveal vein 'uveal vein' SubClassOf 'vein' http://purl.obolibrary.org/obo/UBERON_0035547 posterior ciliary vein 'posterior ciliary vein' SubClassOf 'uveal vein' http://purl.obolibrary.org/obo/UBERON_0035548 colic artery 'colic artery' SubClassOf 'artery' http://purl.obolibrary.org/obo/UBERON_0035549 vasculature of integument 'vasculature of integument' SubClassOf 'vasculature' http://purl.obolibrary.org/obo/UBERON_0035550 superficial vein 'superficial vein' SubClassOf 'vein' http://purl.obolibrary.org/obo/UBERON_0035551 deep vasculature 'deep vasculature' SubClassOf 'vasculature' http://purl.obolibrary.org/obo/UBERON_0035552 deep vein 'deep vein' SubClassOf 'vein' http://purl.obolibrary.org/obo/MONDO_0007415 mitochondrial complex III deficiency nuclear type 1 'mitochondrial complex III deficiency nuclear type 1' SubClassOf 'Isolated CoQ-cytochrome C reductase deficiency' http://purl.obolibrary.org/obo/UBERON_6001135 proneural cluster 'proneural cluster' SubClassOf 'anlage' http://purl.obolibrary.org/obo/MONDO_0007462 multiple sclerosis, susceptibility to 'multiple sclerosis, susceptibility to' SubClassOf 'inherited disease susceptibility' 'multiple sclerosis, susceptibility to' SubClassOf 'predisposes towards' some 'multiple sclerosis' 'multiple sclerosis, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'multiple sclerosis') http://purl.obolibrary.org/obo/MONDO_0019460 acute leukemia of ambiguous lineage 'acute leukemia of ambiguous lineage' SubClassOf 'acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0019453 refractory cytopenia with multilineage dysplasia 'refractory cytopenia with multilineage dysplasia' SubClassOf 'myelodysplastic syndrome' http://purl.obolibrary.org/obo/UBERON_0011612 hypohyal cartilage 'hypohyal cartilage' SubClassOf 'pharyngeal arch cartilage' http://purl.obolibrary.org/obo/UBERON_0011610 ceratohyal cartilage 'ceratohyal cartilage' SubClassOf 'pharyngeal arch cartilage' http://purl.obolibrary.org/obo/UBERON_0011611 ceratohyal bone 'ceratohyal bone' DisjointWith 'epihyal' 'ceratohyal bone' SubClassOf 'endochondral bone' http://purl.obolibrary.org/obo/UBERON_0011615 basihyal cartilage 'basihyal cartilage' SubClassOf 'pharyngeal arch cartilage' http://purl.obolibrary.org/obo/UBERON_0011618 basihyal bone 'basihyal bone' SubClassOf 'endochondral bone' http://purl.obolibrary.org/obo/UBERON_0011619 stylohyoid bone 'stylohyoid bone' SubClassOf 'endochondral bone' http://purl.obolibrary.org/obo/MONDO_0019473 enteropathy-associated T-cell lymphoma 'enteropathy-associated T-cell lymphoma' SubClassOf 'T-cell non-Hodgkin lymphoma' http://purl.obolibrary.org/obo/MONDO_0020460 acquired von willebrand syndrome 'acquired von willebrand syndrome' SubClassOf 'disease shares features of' some 'Von Willebrand disease' 'acquired von willebrand syndrome' EquivalentTo 'von Willebrand disease (hereditary or acquired)' and ('has modifier' some 'acquired') 'acquired von willebrand syndrome' SubClassOf 'acquired coagulation factor deficiency' 'acquired von willebrand syndrome' SubClassOf 'von Willebrand disease (hereditary or acquired)' 'acquired von willebrand syndrome' SubClassOf 'hemorrhagic disorder due to an acquired coagulation factor defect' http://purl.obolibrary.org/obo/UBERON_0011601 gingiva of upper jaw 'gingiva of upper jaw' SubClassOf 'gingiva' http://purl.obolibrary.org/obo/UBERON_0011602 gingiva of lower jaw 'gingiva of lower jaw' SubClassOf 'gingiva' http://purl.obolibrary.org/obo/UBERON_0011605 supracoracoideus muscle of wing 'supracoracoideus muscle of wing' SubClassOf 'muscle of shoulder' 'supracoracoideus muscle of wing' SubClassOf 'muscle of pectoral girdle' http://purl.obolibrary.org/obo/UBERON_0011606 hyomandibular bone 'hyomandibular bone' SubClassOf 'endochondral bone' http://purl.obolibrary.org/obo/UBERON_0011603 coronoid tooth 'coronoid tooth' SubClassOf 'tooth of lower jaw' http://purl.obolibrary.org/obo/UBERON_0011670 pygal plate of carapace 'pygal plate of carapace' SubClassOf 'carapace bone' http://purl.obolibrary.org/obo/UBERON_0011671 nuchal plate of carapace 'nuchal plate of carapace' SubClassOf 'carapace bone' http://purl.obolibrary.org/obo/UBERON_0035640 middle vesical artery 'middle vesical artery' SubClassOf 'inferior vesical artery' http://purl.obolibrary.org/obo/UBERON_0011674 carapace scute 'carapace scute' SubClassOf 'dorsal osteoderm' http://purl.obolibrary.org/obo/UBERON_0035642 laryngeal nerve 'laryngeal nerve' SubClassOf 'nerve' http://purl.obolibrary.org/obo/UBERON_0011672 suprapygal plate of carapace 'suprapygal plate of carapace' SubClassOf 'carapace bone' http://purl.obolibrary.org/obo/UBERON_0011673 plastron scute 'plastron scute' SubClassOf 'scute' http://purl.obolibrary.org/obo/UBERON_0011678 hindlimb intermedium bone 'hindlimb intermedium bone' SubClassOf 'proximal tarsal bone' http://purl.obolibrary.org/obo/UBERON_0011679 proximal tarsal bone 'proximal tarsal bone' SubClassOf 'tarsal bone' 'proximal tarsal bone' SubClassOf 'proximal mesopodial bone' http://purl.obolibrary.org/obo/UBERON_0035646 anterior superior alveolar nerve 'anterior superior alveolar nerve' SubClassOf 'superior alveolar nerve' 'posterior superior alveolar nerve' DisjointWith 'anterior superior alveolar nerve' http://purl.obolibrary.org/obo/UBERON_0035647 posterior auricular nerve 'posterior auricular nerve' SubClassOf 'nerve innervating pinna' http://purl.obolibrary.org/obo/UBERON_0035648 nerve innervating pinna 'nerve innervating pinna' SubClassOf 'nerve of head region' http://purl.obolibrary.org/obo/UBERON_0011677 trunk vertebra 'trunk vertebra' SubClassOf 'trunk bone' 'trunk vertebra' SubClassOf 'bone of dorsum' 'trunk vertebra' SubClassOf 'trunk or cervical vertebra' http://purl.obolibrary.org/obo/UBERON_0035649 nerve of penis 'nerve of penis' SubClassOf 'nerve' http://purl.obolibrary.org/obo/UBERON_0011660 hypoplastron 'hypoplastron' SubClassOf 'dermal element of plastron' http://purl.obolibrary.org/obo/UBERON_0035650 nerve of clitoris 'nerve of clitoris' SubClassOf 'nerve' http://purl.obolibrary.org/obo/UBERON_0011661 xiphiplastron 'xiphiplastron' SubClassOf 'dermal element of plastron' http://purl.obolibrary.org/obo/UBERON_0035655 paraumbilical vein 'paraumbilical vein' SubClassOf 'vein of abdomen' http://purl.obolibrary.org/obo/UBERON_0011667 pleural plate of carapace 'pleural plate of carapace' SubClassOf 'carapace bone' http://purl.obolibrary.org/obo/UBERON_0011665 carapace bone 'carapace bone' SubClassOf 'bone of dorsum' http://purl.obolibrary.org/obo/UBERON_0011666 peripheral plate of carapace 'peripheral plate of carapace' SubClassOf 'carapace bone' http://purl.obolibrary.org/obo/UBERON_0035659 deep facial vein 'deep facial vein' SubClassOf 'craniocervical region vein' 'deep facial vein' SubClassOf 'head blood vessel' 'deep facial vein' SubClassOf 'neck blood vessel' http://purl.obolibrary.org/obo/UBERON_0011669 neural plate of carapace 'neural plate' DisjointWith 'neural plate of carapace' 'neural plate of carapace' SubClassOf 'carapace bone' http://purl.obolibrary.org/obo/UBERON_0011693 extraembryonic portion of umbilical artery 'extraembryonic portion of umbilical artery' SubClassOf 'systemic artery' http://purl.obolibrary.org/obo/UBERON_0011696 left extraembryonic umbilical artery 'left extraembryonic umbilical artery' SubClassOf 'extraembryonic portion of umbilical artery' http://purl.obolibrary.org/obo/UBERON_0011697 right extraembryonic umbilical artery 'right extraembryonic umbilical artery' SubClassOf 'extraembryonic portion of umbilical artery' http://purl.obolibrary.org/obo/UBERON_0011694 embryo portion of umbilical artery 'embryo portion of umbilical artery' SubClassOf 'artery' http://purl.obolibrary.org/obo/UBERON_0011695 embryonic cardiovascular system 'embryonic cardiovascular system' SubClassOf 'cardiovascular system' http://purl.obolibrary.org/obo/UBERON_0011685 preorbitalis muscle 'preorbitalis muscle' SubClassOf 'mandibular muscle' http://purl.obolibrary.org/obo/UBERON_0011686 spiracularis muscle 'spiracularis muscle' SubClassOf 'mandibular muscle' http://purl.obolibrary.org/obo/UBERON_0011684 levator palatoquadrati 'levator palatoquadrati' SubClassOf 'mandibular muscle' http://purl.obolibrary.org/obo/UBERON_0011687 levator hyomandibulae muscle 'levator hyomandibulae muscle' SubClassOf 'hyoid muscle' http://purl.obolibrary.org/obo/UBERON_0011630 intertemporal bone 'intertemporal bone' SubClassOf 'intramembranous bone' 'intertemporal bone' SubClassOf 'dermal bone' http://purl.obolibrary.org/obo/UBERON_0011631 tabular bone 'tabular bone' SubClassOf 'dermal bone' 'tabular bone' SubClassOf 'intramembranous bone' http://purl.obolibrary.org/obo/UBERON_0035601 maxillomandibular part of trigeminal ganglion complex 'maxillomandibular part of trigeminal ganglion complex' SubClassOf 'cranial ganglion' http://purl.obolibrary.org/obo/UBERON_0011635 splenial bone 'splenial bone' SubClassOf 'dermal bone' 'splenial bone' SubClassOf 'bone of lower jaw' http://purl.obolibrary.org/obo/UBERON_0011638 pharyngeal arch 8 'pharyngeal arch 8' SubClassOf 'post-hyoid pharyngeal arch' http://purl.obolibrary.org/obo/UBERON_0011639 frontoparietal bone 'frontoparietal bone' SubClassOf 'dermal bone' http://purl.obolibrary.org/obo/UBERON_0011636 surangular bone 'surangular bone' SubClassOf 'dermal bone' 'surangular bone' SubClassOf 'bone of lower jaw' http://purl.obolibrary.org/obo/UBERON_0011637 prearticular bone 'prearticular bone' SubClassOf 'dermal bone' 'prearticular bone' SubClassOf 'bone of lower jaw' http://purl.obolibrary.org/obo/UBERON_0035608 dura mater lymph vessel 'dura mater lymph vessel' SubClassOf 'lymphatic vessel' http://purl.obolibrary.org/obo/UBERON_0011621 thyrohyoid cartilage 'thyrohyoid cartilage' SubClassOf 'pharyngeal arch cartilage' http://purl.obolibrary.org/obo/UBERON_0011622 thyrohyoid bone 'thyrohyoid bone' SubClassOf 'endochondral bone' http://purl.obolibrary.org/obo/UBERON_0011628 early premaxilla 'early premaxilla' SubClassOf 'dermal bone' 'early premaxilla' SubClassOf 'bone of upper jaw' http://purl.obolibrary.org/obo/UBERON_0011626 tympanohyoid cartilage 'tympanohyoid cartilage' SubClassOf 'pharyngeal arch cartilage' http://purl.obolibrary.org/obo/UBERON_0011629 supratemporal bone 'supratemporal bone' SubClassOf 'dermal bone' 'supratemporal bone' SubClassOf 'intramembranous bone' http://purl.obolibrary.org/obo/UBERON_0011650 epihyoidean 'epihyoidean' SubClassOf 'hyoid muscle' http://purl.obolibrary.org/obo/UBERON_0011657 dermal element of plastron 'dermal element of plastron' SubClassOf 'dermal bone' http://purl.obolibrary.org/obo/UBERON_0011655 interclavicle 'interclavicle' SubClassOf 'dermal bone' 'interclavicle' SubClassOf 'pectoral girdle bone' http://purl.obolibrary.org/obo/UBERON_0011658 epiplastron 'epiplastron' SubClassOf 'dermal element of plastron' http://purl.obolibrary.org/obo/UBERON_0011659 entoplastron 'entoplastron' SubClassOf 'dermal element of plastron' http://purl.obolibrary.org/obo/UBERON_0011641 odontogenic mesenchyme of molar 'odontogenic mesenchyme of molar' SubClassOf 'uncondensed odontogenic mesenchyme' http://purl.obolibrary.org/obo/UBERON_0011642 oral epithelium from ectoderm 'oral epithelium from ectoderm' SubClassOf 'unilaminar epithelium' 'oral epithelium from ectoderm' SubClassOf 'ecto-epithelium' 'oral epithelium from ectoderm' SubClassOf 'oral epithelium' http://purl.obolibrary.org/obo/UBERON_0011645 iliofemoralis muscle 'iliofemoralis muscle' SubClassOf 'muscle of pelvis' http://purl.obolibrary.org/obo/UBERON_0011646 patagialis muscle 'patagialis muscle' SubClassOf 'muscle of pectoral girdle' http://purl.obolibrary.org/obo/UBERON_0011643 puboischiofemoralis internus muscle 'puboischiofemoralis internus muscle' SubClassOf 'muscle of vertebral column' 'puboischiofemoralis internus muscle' SubClassOf 'puboischiofemoralis muscle' http://purl.obolibrary.org/obo/UBERON_0008001 irregular bone 'irregular bone' SubClassOf 'bone' http://purl.obolibrary.org/obo/UBERON_0011644 puboischiofemoralis externus muscle 'puboischiofemoralis externus muscle' SubClassOf 'puboischiofemoralis muscle' http://purl.obolibrary.org/obo/UBERON_0008000 sesamoid bone of pes 'sesamoid bone of pes' SubClassOf 'sesamoid bone' 'sesamoid bone of pes' SubClassOf 'pes bone' http://purl.obolibrary.org/obo/UBERON_0011649 levator operculi 'levator operculi' SubClassOf 'hyoid muscle' http://purl.obolibrary.org/obo/UBERON_0011647 depressor mandibulae muscle 'depressor mandibulae muscle' SubClassOf 'mandibular muscle' 'depressor mandibulae muscle' SubClassOf 'facial muscle' http://purl.obolibrary.org/obo/UBERON_0035483 left suprarenal vein 'left suprarenal vein' SubClassOf 'suprarenal vein' http://purl.obolibrary.org/obo/UBERON_0035489 branch of basilar artery 'branch of basilar artery' SubClassOf 'systemic artery' 'branch of basilar artery' SubClassOf 'head blood vessel' http://purl.obolibrary.org/obo/UBERON_0035492 inferior hypophysial artery 'inferior hypophysial artery' SubClassOf 'systemic artery' 'inferior hypophysial artery' SubClassOf 'head blood vessel' 'inferior hypophysial artery' SubClassOf 'hypophysial artery' http://purl.obolibrary.org/obo/UBERON_0035498 gastrophrenic ligament 'gastrophrenic ligament' SubClassOf 'nonskeletal ligament' http://purl.obolibrary.org/obo/UBERON_0035462 anterior parietal artery 'anterior parietal artery' SubClassOf 'branch of middle cerebral artery' 'posterior parietal artery' DisjointWith 'anterior parietal artery' http://purl.obolibrary.org/obo/UBERON_0035474 right subcostal vein 'right subcostal vein' SubClassOf 'subcostal vein' http://purl.obolibrary.org/obo/UBERON_0035444 triangular ligament of liver 'triangular ligament of liver' SubClassOf 'ligament' http://purl.obolibrary.org/obo/UBERON_0035445 urogenital diaphragm 'urogenital diaphragm' SubClassOf 'ligament' http://purl.obolibrary.org/obo/UBERON_0011465 longissimus atlantis muscle 'longissimus atlantis muscle' SubClassOf 'longissimus muscle' http://purl.obolibrary.org/obo/UBERON_0035422 circumflex branch of left coronary artery 'circumflex branch of left coronary artery' SubClassOf 'branch of left coronary artery' http://purl.obolibrary.org/obo/UBERON_0035428 postcapillary venule 'postcapillary venule' SubClassOf 'venule' http://purl.obolibrary.org/obo/UBERON_0035435 right suprarenal vein 'right suprarenal vein' SubClassOf 'suprarenal vein' http://purl.obolibrary.org/obo/MONDO_0010940 inherited susceptibility to asthma 'inherited susceptibility to asthma' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'asthma') 'inherited susceptibility to asthma' SubClassOf 'predisposes towards' some 'asthma' 'inherited susceptibility to asthma' SubClassOf 'inherited disease susceptibility' 'inherited susceptibility to asthma' SubClassOf 'inherited genetic disease' http://purl.obolibrary.org/obo/MONDO_0007329 cirrhosis, familial 'cirrhosis, familial' SubClassOf 'cirrhosis of liver' 'cirrhosis, familial' SubClassOf 'inherited genetic disease' 'cirrhosis, familial' EquivalentTo 'cirrhosis of liver' and ('has modifier' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0019304 rare photodermatosis 'rare photodermatosis' SubClassOf 'skin disease' http://purl.obolibrary.org/obo/MONDO_0007342 clubfoot 'clubfoot' SubClassOf 'Familial clubfoot with or without associated lower limb anomalies' http://purl.obolibrary.org/obo/MONDO_0007354 coloboma of optic nerve (disease) 'coloboma of optic nerve (disease)' SubClassOf 'Rare genetic neurological disorder' 'coloboma of optic nerve (disease)' SubClassOf 'coloboma' 'coloboma of optic nerve (disease)' SubClassOf 'visual pathway disease' http://purl.obolibrary.org/obo/MONDO_0007350 coloboma, ocular, autosomal dominant 'coloboma, ocular, autosomal dominant' SubClassOf 'Ocular coloboma' http://purl.obolibrary.org/obo/MONDO_0019331 rare form of salmonellosis 'rare form of salmonellosis' SubClassOf 'has modifier' some 'rare' 'rare form of salmonellosis' SubClassOf 'bacterial disease' http://purl.obolibrary.org/obo/MONDO_0019362 epidemic louse-borne typhus 'epidemic louse-borne typhus' SubClassOf 'typhus' http://purl.obolibrary.org/obo/MONDO_0044347 erythrocyte disease 'erythrocyte disease' SubClassOf 'hematologic disease' 'erythrocyte disease' SubClassOf 'disease by cell type' http://purl.obolibrary.org/obo/MONDO_0044349 acquired hemoglobinopathy 'acquired hemoglobinopathy' EquivalentTo 'Hemoglobinopathy' and ('has modifier' some 'acquired') 'acquired hemoglobinopathy' SubClassOf 'has modifier' some 'acquired' 'acquired hemoglobinopathy' SubClassOf 'Hemoglobinopathy' http://purl.obolibrary.org/obo/MONDO_0020379 early-onset zonular cataract 'early-onset zonular cataract' SubClassOf 'Partial congenital cataract' http://purl.obolibrary.org/obo/MONDO_0019386 progressive rubella panencephalitis 'progressive rubella panencephalitis' SubClassOf 'chronic encephalitis' 'progressive rubella panencephalitis' SubClassOf 'has modifier' some 'acquired' 'progressive rubella panencephalitis' SubClassOf 'infectious disease with epilepsy' 'progressive rubella panencephalitis' SubClassOf 'rubella encephalitis' 'progressive rubella panencephalitis' EquivalentTo 'chronic encephalitis' and ('disease arises from feature' some 'rubella') http://purl.obolibrary.org/obo/MONDO_0020398 congenital mitral stenosis (disease) 'congenital mitral stenosis (disease)' EquivalentTo 'mitral valve stenosis' and ('has modifier' some 'inherited') 'congenital mitral stenosis (disease)' SubClassOf 'inherited mitral valve disease' 'congenital mitral stenosis (disease)' SubClassOf 'mitral valve stenosis' 'congenital mitral stenosis (disease)' SubClassOf 'congenital mitral valve insufficiency and/or stenosis' http://purl.obolibrary.org/obo/MONDO_0044334 connective and soft tissue neoplasm 'connective and soft tissue neoplasm' SubClassOf 'neoplasm' http://purl.obolibrary.org/obo/MONDO_0044335 benign soft tissue neoplasm 'benign soft tissue neoplasm' SubClassOf 'Soft Tissue Neoplasm' 'benign soft tissue neoplasm' SubClassOf 'benign connective and soft tissue neoplasm' http://purl.obolibrary.org/obo/UBERON_0035520 anterior mediastinal lymph node 'anterior mediastinal lymph node' SubClassOf 'mediastinal lymph node' http://purl.obolibrary.org/obo/UBERON_0035526 superficial fibular nerve 'superficial fibular nerve' SubClassOf 'leg nerve' 'superficial fibular nerve' SubClassOf 'fibular nerve' http://purl.obolibrary.org/obo/UBERON_0035529 left common iliac artery 'left common iliac artery' SubClassOf 'common iliac artery' http://purl.obolibrary.org/obo/UBERON_0035530 basal vein 'basal vein' SubClassOf 'deep cerebral vein' http://purl.obolibrary.org/obo/UBERON_0035532 deep middle cerebral vein 'deep middle cerebral vein' SubClassOf 'cerebral vein' http://purl.obolibrary.org/obo/UBERON_0035539 esophageal artery 'esophageal artery' SubClassOf 'systemic artery' 'esophageal artery' SubClassOf 'thoracic segment blood vessel' http://purl.obolibrary.org/obo/UBERON_0035505 right inguinal part of abdomen 'right inguinal part of abdomen' SubClassOf 'inguinal part of abdomen' http://purl.obolibrary.org/obo/UBERON_0035508 branch of posterior cerebral artery 'branch of posterior cerebral artery' SubClassOf 'systemic artery' 'branch of anterior cerebral artery' DisjointWith 'branch of posterior cerebral artery' 'branch of posterior cerebral artery' SubClassOf 'head blood vessel' http://purl.obolibrary.org/obo/UBERON_0011564 adductor pollicis muscle of prepollex 'adductor pollicis muscle of prepollex' SubClassOf 'adductor muscle' http://purl.obolibrary.org/obo/UBERON_0011511 iliococcygeus muscle 'iliococcygeus muscle' SubClassOf 'axial muscle' 'iliococcygeus muscle' SubClassOf 'muscle of pelvis' http://purl.obolibrary.org/obo/UBERON_0011512 puborectalis muscle 'puborectalis muscle' SubClassOf 'muscle of pelvis' http://purl.obolibrary.org/obo/UBERON_0011508 sphincter colli superficialis muscle 'sphincter colli superficialis muscle' SubClassOf 'muscle of neck' http://purl.obolibrary.org/obo/UBERON_0011509 sphincter colli profundus muscle 'sphincter colli profundus muscle' SubClassOf 'muscle of neck' http://purl.obolibrary.org/obo/UBERON_0011531 male pubococcygeus muscle 'male pubococcygeus muscle' SubClassOf 'pubococcygeus muscle' http://purl.obolibrary.org/obo/UBERON_0011532 female pubococcygeus muscle 'female pubococcygeus muscle' SubClassOf 'pubococcygeus muscle' http://purl.obolibrary.org/obo/UBERON_0011533 abductor pollicis, radioulna-prepollox 'abductor pollicis, radioulna-prepollox' SubClassOf 'forelimb muscle' http://purl.obolibrary.org/obo/UBERON_0011534 abductor pollicis muscle 'abductor pollicis muscle' SubClassOf 'forelimb muscle' 'abductor pollicis muscle' SubClassOf 'abductor muscle' http://purl.obolibrary.org/obo/UBERON_0011528 pubococcygeus muscle 'pubococcygeus muscle' SubClassOf 'axial muscle' 'pubococcygeus muscle' SubClassOf 'muscle of pelvis' http://purl.obolibrary.org/obo/MONDO_0001014 chronic leukemia 'chronic leukemia' SubClassOf 'leukemia' http://purl.obolibrary.org/obo/MONDO_0001018 lymphoblastic leukemia 'lymphoblastic leukemia' SubClassOf 'leukemia' http://purl.obolibrary.org/obo/MONDO_0015652 chromosomal anomaly with epilepsy as a major feature 'chromosomal anomaly with epilepsy as a major feature' SubClassOf 'Chromosomal anomaly' 'chromosomal anomaly with epilepsy as a major feature' SubClassOf 'Rare genetic neurological disorder' 'chromosomal anomaly with epilepsy as a major feature' SubClassOf 'congenital nervous system disorder' 'chromosomal anomaly with epilepsy as a major feature' EquivalentTo 'Chromosomal anomaly' and ('disease has major feature' some 'epilepsy') 'chromosomal anomaly with epilepsy as a major feature' SubClassOf 'disease has major feature' some 'epilepsy' 'chromosomal anomaly with epilepsy as a major feature' SubClassOf 'epilepsy' http://purl.obolibrary.org/obo/MONDO_0015659 infectious disease with epilepsy 'infectious disease with epilepsy' SubClassOf 'epilepsy' 'infectious disease with epilepsy' SubClassOf 'central nervous system infection' http://purl.obolibrary.org/obo/MONDO_0015657 inflammatory and autoimmune disease with epilepsy 'inflammatory and autoimmune disease with epilepsy' SubClassOf 'has modifier' some 'rare' 'inflammatory and autoimmune disease with epilepsy' SubClassOf 'disease has major feature' some 'epilepsy' 'inflammatory and autoimmune disease with epilepsy' SubClassOf 'epilepsy' http://purl.obolibrary.org/obo/MONDO_0015656 metabolic disease with epilepsy 'metabolic disease with epilepsy' SubClassOf 'metabolic disease' 'metabolic disease with epilepsy' SubClassOf 'nutritional or metabolic disease' 'metabolic disease with epilepsy' SubClassOf 'has modifier' some 'rare' 'metabolic disease with epilepsy' SubClassOf 'epilepsy' 'metabolic disease with epilepsy' SubClassOf 'disease has major feature' some 'epilepsy' 'metabolic disease with epilepsy' EquivalentTo 'metabolic disease' and ('disease has major feature' some 'epilepsy') http://purl.obolibrary.org/obo/MONDO_0003688 well differentiated papillary mesothelioma 'well differentiated papillary mesothelioma' SubClassOf 'mesothelioma' http://purl.obolibrary.org/obo/MONDO_0003689 familial hemolytic anemia 'familial hemolytic anemia' SubClassOf 'inherited genetic disease' 'familial hemolytic anemia' SubClassOf 'normocytic anemia' http://purl.obolibrary.org/obo/MONDO_0001023 prolymphocytic leukemia 'prolymphocytic leukemia' SubClassOf 'lymphoid leukemia' 'prolymphocytic leukemia' SubClassOf 'chronic leukemia' http://purl.obolibrary.org/obo/MONDO_0001029 Klippel-Feil syndrome 'Klippel-Feil syndrome' SubClassOf 'Dysostosis with predominant vertebral and costal involvement' 'Klippel-Feil syndrome' SubClassOf 'congenital abnormality' http://purl.obolibrary.org/obo/MONDO_0003685 retroperitoneal germ cell neoplasm 'retroperitoneal germ cell neoplasm' SubClassOf 'retroperitoneal neoplasm' 'retroperitoneal germ cell neoplasm' SubClassOf 'germ cell tumor' http://purl.obolibrary.org/obo/MONDO_0001020 amblyopia (disease) 'amblyopia (disease)' SubClassOf 'vision disorder' http://purl.obolibrary.org/obo/MONDO_0015667 unclassified acute myeloid leukemia 'unclassified acute myeloid leukemia' SubClassOf 'acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0015662 hemorrhagic disorder due to an acquired coagulation factor defect 'hemorrhagic disorder due to an acquired coagulation factor defect' SubClassOf 'hemorrhagic disorder due to a coagulation factors defect' http://purl.obolibrary.org/obo/MONDO_0001045 intestinal atresia (disease) 'intestinal atresia (disease)' SubClassOf 'intestinal disease' http://purl.obolibrary.org/obo/MONDO_0001040 nasopharyngitis 'nasopharyngitis' SubClassOf 'nasopharyngeal disease' 'nasopharyngitis' SubClassOf 'inflammatory disease' http://purl.obolibrary.org/obo/MONDO_0015686 primary peritoneal carcinoma (disease) 'primary peritoneal carcinoma (disease)' SubClassOf 'primary malignant peritoneal tumor' http://purl.obolibrary.org/obo/MONDO_0015683 primary malignant peritoneal tumor 'primary malignant peritoneal tumor' SubClassOf 'primary peritoneal tumor' http://purl.obolibrary.org/obo/MONDO_0015682 primary peritoneal tumor 'primary peritoneal tumor' SubClassOf 'has modifier' some 'rare' 'primary peritoneal tumor' SubClassOf 'neoplasm' http://purl.obolibrary.org/obo/MONDO_0001056 gastric cancer 'gastric cancer' SubClassOf 'gastric neoplasm' 'gastric cancer' SubClassOf 'digestive system cancer' http://purl.obolibrary.org/obo/MONDO_0001059 gastric lymphoma 'gastric lymphoma' SubClassOf 'gastrointestinal lymphoma' 'gastric lymphoma' SubClassOf 'gastric cancer' http://purl.obolibrary.org/obo/MONDO_0037003 malignant phyllodes tumor 'malignant phyllodes tumor' SubClassOf 'phyllodes tumor' 'malignant phyllodes tumor' SubClassOf 'Malignant Mixed Neoplasm' http://purl.obolibrary.org/obo/MONDO_0025013 non-human primate disease 'non-human primate disease' SubClassOf 'animal disease' http://purl.obolibrary.org/obo/MONDO_0001063 cardia cancer 'cardia cancer' SubClassOf 'gastric cancer' http://purl.obolibrary.org/obo/MONDO_0040677 invasive carcinoma 'invasive carcinoma' SubClassOf 'carcinoma' http://purl.obolibrary.org/obo/MONDO_0040678 infiltrating urothelial carcinoma 'infiltrating urothelial carcinoma' SubClassOf 'invasive carcinoma' 'infiltrating urothelial carcinoma' SubClassOf 'urothelial neoplasm' 'infiltrating urothelial carcinoma' SubClassOf 'Malignant Urinary System Neoplasm' http://purl.obolibrary.org/obo/MONDO_0001083 Fanconi syndrome 'Fanconi syndrome' SubClassOf 'renal tubular transport disease' 'Fanconi syndrome' SubClassOf 'syndromic disease' 'Fanconi syndrome' SubClassOf 'renal tubule disease' http://purl.obolibrary.org/obo/MONDO_0001082 lymph node cancer 'lymph node cancer' SubClassOf 'lymphatic system cancer' 'lymph node cancer' SubClassOf 'lymph node neoplasm' http://purl.obolibrary.org/obo/MONDO_0001085 interstitial nephritis 'interstitial nephritis' SubClassOf 'nephritis' http://purl.obolibrary.org/obo/MONDO_0001084 primary optic atrophy 'primary optic atrophy' SubClassOf 'optic atrophy' http://purl.obolibrary.org/obo/MONDO_0040653 autosomal recessive ocular albinism 'autosomal recessive ocular albinism' SubClassOf 'autosomal recessive disease' 'autosomal recessive ocular albinism' SubClassOf 'Ocular albinism' http://purl.obolibrary.org/obo/UBERON_0010905 clavicle bone primordium 'clavicle bone primordium' SubClassOf 'primordium' http://purl.obolibrary.org/obo/UBERON_0010907 parafibula 'parafibula' SubClassOf 'hindlimb zeugopod bone' http://purl.obolibrary.org/obo/UBERON_0010908 paraglossale 'paraglossale' SubClassOf 'bone' http://purl.obolibrary.org/obo/UBERON_0009919 ureter smooth muscle 'ureter smooth muscle' SubClassOf 'smooth muscle tissue' http://purl.obolibrary.org/obo/MONDO_0025082 helminthiasis, animal 'helminthiasis, animal' SubClassOf 'Helminthiasis' 'helminthiasis, animal' SubClassOf 'parasitic disease, non-human animal' http://purl.obolibrary.org/obo/UBERON_0009920 optic neural crest 'optic neural crest' SubClassOf 'mesenchyme derived from head neural crest' http://purl.obolibrary.org/obo/UBERON_0010921 thyrohyoid ligament 'thyrohyoid ligament' SubClassOf 'nonskeletal ligament' http://purl.obolibrary.org/obo/UBERON_0010927 thyroepiglotticus muscle 'thyroepiglotticus muscle' SubClassOf 'muscle of larynx' http://purl.obolibrary.org/obo/UBERON_0010928 cricopharyngeus muscle 'cricopharyngeus muscle' SubClassOf 'branchial muscle' http://purl.obolibrary.org/obo/UBERON_0010925 median thyrohyoid ligament 'median thyrohyoid ligament' SubClassOf 'thyrohyoid ligament' http://purl.obolibrary.org/obo/UBERON_0010926 lateral thyrohyoid ligament 'lateral thyrohyoid ligament' SubClassOf 'thyrohyoid ligament' http://purl.obolibrary.org/obo/UBERON_0010929 stapedius pre-muscle condensation 'stapedius pre-muscle condensation' SubClassOf 'mesenchyme of middle ear' http://purl.obolibrary.org/obo/UBERON_0019319 exocrine gland of integumental system 'exocrine gland of integumental system' SubClassOf 'gland of integumental system' 'exocrine gland of integumental system' SubClassOf 'exocrine gland' http://purl.obolibrary.org/obo/UBERON_0034950 lymph sac of lymph heart 'lymph sac of lymph heart' SubClassOf 'lymphatic vessel' http://purl.obolibrary.org/obo/UBERON_0034951 subcutaneous lymph sac 'subcutaneous lymph sac' SubClassOf 'lymph sac of lymph heart' http://purl.obolibrary.org/obo/UBERON_0034952 intrapleuroperitoneal lymph sac 'intrapleuroperitoneal lymph sac' SubClassOf 'lymph sac of lymph heart' http://purl.obolibrary.org/obo/UBERON_0007321 lateral saphenous vein 'medial saphenous vein' DisjointWith 'lateral saphenous vein' 'lateral saphenous vein' SubClassOf 'accessory saphenous vein' http://purl.obolibrary.org/obo/UBERON_0034953 embryonic lymph sac 'embryonic lymph sac' SubClassOf 'epithelial sac' http://purl.obolibrary.org/obo/UBERON_0010987 sterno-mastoid pre-muscle mass 'sterno-mastoid pre-muscle mass' SubClassOf 'head mesenchyme from mesoderm' http://purl.obolibrary.org/obo/UBERON_0034958 retroperitoneal embryonic lymph sac 'retroperitoneal embryonic lymph sac' SubClassOf 'embryonic lymph sac' http://purl.obolibrary.org/obo/UBERON_0019306 nose epithelium 'nose epithelium' SubClassOf 'ecto-epithelium' 'nose epithelium' SubClassOf 'sensory organ epithelium' http://purl.obolibrary.org/obo/UBERON_0019307 epithelium of external nose 'epithelium of external nose' SubClassOf 'keratinized stratified squamous epithelium' 'epithelium of external nose' SubClassOf 'nose epithelium' http://purl.obolibrary.org/obo/UBERON_0019304 sensory organ epithelium 'sensory organ epithelium' SubClassOf 'epithelium' http://purl.obolibrary.org/obo/UBERON_0034964 superficial epigastric artery 'superficial epigastric artery' SubClassOf 'systemic artery' 'superficial epigastric artery' SubClassOf 'epigastric artery' http://purl.obolibrary.org/obo/UBERON_0034965 middle thyroid vein 'middle thyroid vein' SubClassOf 'thyroid vein' http://purl.obolibrary.org/obo/UBERON_0034969 epithelial layer of duct 'epithelial layer of duct' SubClassOf 'epithelial tube' http://purl.obolibrary.org/obo/UBERON_0009992 cranial sensory ganglion 'cranial sensory ganglion' SubClassOf 'cranial ganglion' 'cranial sensory ganglion' SubClassOf 'sensory ganglion' http://purl.obolibrary.org/obo/UBERON_0009993 primary chorionic villus 'primary chorionic villus' SubClassOf 'chorionic villus' http://purl.obolibrary.org/obo/UBERON_0009994 secondary chorionic villus 'secondary chorionic villus' SubClassOf 'chorionic villus' http://purl.obolibrary.org/obo/UBERON_0009995 tertiary chorionic villus 'tertiary chorionic villus' SubClassOf 'chorionic villus' http://purl.obolibrary.org/obo/UBERON_0034930 auricular feather 'auricular feather' SubClassOf 'feather' http://purl.obolibrary.org/obo/UBERON_0034932 epithelium of biliary system 'epithelium of biliary system' SubClassOf 'epithelium' http://purl.obolibrary.org/obo/UBERON_0034934 Weber's gland 'Weber's gland' SubClassOf 'minor salivary gland' 'Weber's gland' SubClassOf 'gland of tongue' http://purl.obolibrary.org/obo/UBERON_0010990 transversospinales muscle 'transversospinales muscle' SubClassOf 'axial muscle' http://purl.obolibrary.org/obo/UBERON_0019324 intraorbital lacrimal gland 'intraorbital lacrimal gland' SubClassOf 'lacrimal gland' http://purl.obolibrary.org/obo/UBERON_0019325 exorbital lacrimal gland 'exorbital lacrimal gland' SubClassOf 'lacrimal gland' http://purl.obolibrary.org/obo/UBERON_0007352 stria vascularis vasculature 'stria vascularis vasculature' SubClassOf 'vasculature of organ' 'stria vascularis vasculature' SubClassOf 'vasculature of head' http://purl.obolibrary.org/obo/UBERON_0034945 excreted gas 'excreted gas' SubClassOf 'excreta' http://purl.obolibrary.org/obo/UBERON_0034946 gas excreted from digestive tract 'gas excreted from digestive tract' SubClassOf 'excreted gas' http://purl.obolibrary.org/obo/UBERON_0010940 muscle of digastric group 'muscle of digastric group' SubClassOf 'branchial muscle' 'muscle of digastric group' SubClassOf 'skeletal muscle organ' http://purl.obolibrary.org/obo/UBERON_0010945 jugulohyoideus muscle 'jugulohyoideus muscle' SubClassOf 'muscle of neck' http://purl.obolibrary.org/obo/UBERON_0010943 anterior digastric muscle 'anterior digastric muscle' DisjointWith 'posterior digastric muscle' 'anterior digastric muscle' SubClassOf 'muscle of digastric group' http://purl.obolibrary.org/obo/UBERON_0010944 posterior digastric muscle 'anterior digastric muscle' DisjointWith 'posterior digastric muscle' 'posterior digastric muscle' SubClassOf 'facial muscle' 'posterior digastric muscle' SubClassOf 'muscle of digastric group' http://purl.obolibrary.org/obo/UBERON_0010949 sternooccipital muscle 'sternooccipital muscle' SubClassOf 'axial muscle' 'sternooccipital muscle' SubClassOf 'muscle of neck' http://purl.obolibrary.org/obo/UBERON_0010948 cleidooccipital muscle 'cleidooccipital muscle' SubClassOf 'skeletal muscle organ' 'cleidooccipital muscle' SubClassOf 'branchial muscle' http://purl.obolibrary.org/obo/UBERON_0010930 interhyoideus 'interhyoideus' SubClassOf 'hyoid muscle' http://purl.obolibrary.org/obo/UBERON_0009953 post-embryonic organism 'post-embryonic organism' SubClassOf 'whole organism' http://purl.obolibrary.org/obo/UBERON_0009954 vomeronasal system 'vomeronasal system' SubClassOf 'sensory system' http://purl.obolibrary.org/obo/UBERON_0010935 tensor tympani pre-muscle condensation 'tensor tympani pre-muscle condensation' SubClassOf 'mesenchyme of middle ear' http://purl.obolibrary.org/obo/UBERON_0010932 crico-arytenoid muscle 'crico-arytenoid muscle' SubClassOf 'laryngeal intrinsic muscle' http://purl.obolibrary.org/obo/UBERON_0010933 orbicularis oris muscle 'orbicularis oris muscle' SubClassOf 'facial muscle' http://purl.obolibrary.org/obo/UBERON_0034927 arcuate artery of foot 'arcuate artery of foot' SubClassOf 'pes blood vessel' 'arcuate artery of foot' SubClassOf 'systemic artery' http://purl.obolibrary.org/obo/UBERON_0010936 thyropharyngeus muscle 'thyropharyngeus muscle' SubClassOf 'branchial muscle' http://purl.obolibrary.org/obo/UBERON_0010937 salpingopharyngeus muscle 'salpingopharyngeus muscle' SubClassOf 'branchial muscle' http://purl.obolibrary.org/obo/UBERON_0007300 pectoral appendage blood vessel 'pectoral appendage blood vessel' SubClassOf 'appendage blood vessel' http://purl.obolibrary.org/obo/UBERON_0009963 antennal gland 'antennal gland' SubClassOf 'excretory gland' http://purl.obolibrary.org/obo/UBERON_0010963 trunk and cervical myotome group 'trunk and cervical myotome group' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0009964 crustacean maxillary gland 'sublingual gland' DisjointWith 'crustacean maxillary gland' 'crustacean maxillary gland' SubClassOf 'excretory gland' http://purl.obolibrary.org/obo/UBERON_0009965 coxal gland 'coxal gland' SubClassOf 'excretory gland' http://purl.obolibrary.org/obo/UBERON_0009967 spleen venous sinus 'spleen venous sinus' SubClassOf 'abdomen blood vessel' 'spleen venous sinus' SubClassOf 'venous sinus' http://purl.obolibrary.org/obo/UBERON_0009968 primitive superior sagittal sinus 'primitive superior sagittal sinus' SubClassOf 'venous sinus' http://purl.obolibrary.org/obo/UBERON_0009969 statoacoustic epithelium 'statoacoustic epithelium' SubClassOf 'sensory epithelium' http://purl.obolibrary.org/obo/UBERON_0007308 pronephric distal early tubule 'pronephric distal early tubule' SubClassOf 'pronephric nephron tubule' 'pronephric distal early tubule' SubClassOf 'distal early tubule' http://purl.obolibrary.org/obo/UBERON_0007306 pronephric glomerular capillary 'pronephric glomerular capillary' SubClassOf 'glomerular capillary' http://purl.obolibrary.org/obo/UBERON_0007304 appendage vasculature 'appendage vasculature' SubClassOf 'vasculature' http://purl.obolibrary.org/obo/UBERON_0007303 pharyngeal vasculature 'pharyngeal vasculature' SubClassOf 'vasculature of organ' http://purl.obolibrary.org/obo/UBERON_0007302 pectoral appendage vasculature 'pectoral appendage vasculature' SubClassOf 'appendage vasculature' http://purl.obolibrary.org/obo/UBERON_0007301 appendage blood vessel 'appendage blood vessel' SubClassOf 'blood vessel' http://purl.obolibrary.org/obo/UBERON_0009962 excretory gland 'excretory gland' SubClassOf 'gland' http://purl.obolibrary.org/obo/UBERON_0010953 nasalis muscle 'nasalis muscle' SubClassOf 'nasal muscle' http://purl.obolibrary.org/obo/UBERON_0009976 hypothalamo-hypophyseal system 'hypothalamo-hypophyseal system' SubClassOf 'portal system' http://purl.obolibrary.org/obo/UBERON_0010950 styloauricular muscle 'styloauricular muscle' SubClassOf 'cranial muscle' http://purl.obolibrary.org/obo/UBERON_0009977 natal tooth 'natal tooth' SubClassOf 'deciduous tooth' http://purl.obolibrary.org/obo/UBERON_0010951 interscutular muscle 'interscutular muscle' SubClassOf 'cranial muscle' http://purl.obolibrary.org/obo/UBERON_0010954 ceratohyoideus muscle 'ceratohyoideus muscle' SubClassOf 'branchial muscle' http://purl.obolibrary.org/obo/UBERON_0034903 left atrium endocardium 'left atrium endocardium' SubClassOf 'endocardium of atrium' http://purl.obolibrary.org/obo/UBERON_0010955 trapezius pre-muscle mass 'trapezius pre-muscle mass' SubClassOf 'mesenchyme from rhombencephalic neural crest' 'trapezius pre-muscle mass' SubClassOf 'head mesenchyme from mesoderm' http://purl.obolibrary.org/obo/UBERON_0007319 medial saphenous vein 'medial saphenous vein' DisjointWith 'lateral saphenous vein' 'medial saphenous vein' SubClassOf 'accessory saphenous vein' http://purl.obolibrary.org/obo/UBERON_0007318 saphenous vein 'saphenous vein' SubClassOf 'superficial vein' 'saphenous vein' SubClassOf 'lower leg blood vessel' http://purl.obolibrary.org/obo/UBERON_0007317 superficial external pudendal artery 'superficial external pudendal artery' SubClassOf 'external pudendal artery' 'superficial external pudendal artery' SubClassOf 'systemic artery' http://purl.obolibrary.org/obo/UBERON_0010958 arytenoid muscle 'arytenoid muscle' SubClassOf 'laryngeal intrinsic muscle' http://purl.obolibrary.org/obo/UBERON_0010959 craniocervical muscle 'craniocervical muscle' SubClassOf 'skeletal muscle organ' http://purl.obolibrary.org/obo/UBERON_0034908 scapular muscle 'scapular muscle' SubClassOf 'skeletal muscle organ' http://purl.obolibrary.org/obo/UBERON_0007316 deep external pudendal artery 'deep external pudendal artery' SubClassOf 'deep femoral artery' 'deep external pudendal artery' SubClassOf 'external pudendal artery' http://purl.obolibrary.org/obo/UBERON_0007315 internal pudendal artery 'internal pudendal artery' SubClassOf 'pudendal artery' 'internal pudendal artery' SubClassOf 'systemic artery' 'internal pudendal artery' SubClassOf 'abdominal segment blood vessel' http://purl.obolibrary.org/obo/UBERON_0034909 intermaxillary suture 'intermaxillary suture' SubClassOf 'cranial suture' 'intermaxillary suture' SubClassOf 'facial suture' http://purl.obolibrary.org/obo/UBERON_0007314 superior external pudendal artery 'superior external pudendal artery' SubClassOf 'external pudendal artery' http://purl.obolibrary.org/obo/UBERON_0009971 principal gastric gland 'principal gastric gland' SubClassOf 'gastric gland' http://purl.obolibrary.org/obo/UBERON_0007312 pudendal artery 'pudendal artery' SubClassOf 'artery' http://purl.obolibrary.org/obo/UBERON_3000931 intercalary element of hind digit 'intercalary element of hind digit' SubClassOf 'pedal digit bone' http://purl.obolibrary.org/obo/MONDO_0003719 renal pelvis neoplasm 'renal pelvis neoplasm' SubClassOf 'kidney neoplasm' http://purl.obolibrary.org/obo/MONDO_0003724 non-proliferative fibrocystic change of the breast 'non-proliferative fibrocystic change of the breast' SubClassOf 'breast fibrocystic disease' http://purl.obolibrary.org/obo/UBERON_6001842 insect embryonic/larval digestive system 'insect embryonic/larval digestive system' SubClassOf 'digestive system' http://purl.obolibrary.org/obo/MONDO_0003739 selective immunoglobulin deficiency disease 'selective immunoglobulin deficiency disease' SubClassOf 'B cell deficiency' http://purl.obolibrary.org/obo/MONDO_0003756 ovarian mucinous neoplasm 'ovarian mucinous neoplasm' SubClassOf 'ovarian epithelial tumor' http://purl.obolibrary.org/obo/MONDO_0003751 childhood germ cell tumor 'childhood germ cell tumor' SubClassOf 'germ cell tumor' 'childhood germ cell tumor' SubClassOf 'childhood neoplasm' 'childhood germ cell tumor' EquivalentTo 'childhood neoplasm' and 'germ cell tumor' http://purl.obolibrary.org/obo/UBERON_0034995 jaw mesenchyme 'jaw mesenchyme' SubClassOf 'head mesenchyme' http://purl.obolibrary.org/obo/UBERON_0034996 outer renal medulla loop of Henle 'outer renal medulla loop of Henle' SubClassOf 'renal medulla loop of Henle' http://purl.obolibrary.org/obo/UBERON_0007366 ruminant stomach 'ruminant stomach' SubClassOf 'stomach' http://purl.obolibrary.org/obo/UBERON_0034997 renal medulla loop of Henle 'renal medulla loop of Henle' SubClassOf 'loop of Henle' http://purl.obolibrary.org/obo/UBERON_6001809 posterior dorsal histoblast nest abdominal 'posterior dorsal histoblast nest abdominal' SubClassOf 'histoblast nest' http://purl.obolibrary.org/obo/MONDO_0003766 thalamic cancer 'thalamic cancer' SubClassOf 'diencephalic cancer' 'thalamic cancer' SubClassOf 'thalamic disease' http://purl.obolibrary.org/obo/MONDO_0001104 toxic diffuse goiter 'toxic diffuse goiter' SubClassOf 'Hyperthyroidism' http://purl.obolibrary.org/obo/UBERON_0007380 dermal scale 'dermal scale' SubClassOf 'scale' http://purl.obolibrary.org/obo/MONDO_0015748 hereditary mucosal leukokeratosis 'hereditary mucosal leukokeratosis' SubClassOf 'melanocytic nevus' 'hereditary mucosal leukokeratosis' SubClassOf 'Genetic skin tumor' http://purl.obolibrary.org/obo/UBERON_0007376 outer epithelium 'outer epithelium' SubClassOf 'ecto-epithelium' http://purl.obolibrary.org/obo/UBERON_0007374 incus cartilage element 'incus cartilage element' SubClassOf 'auditory ossicle cartilage element' http://purl.obolibrary.org/obo/UBERON_0007379 shelled egg 'shelled egg' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0007378 egg yolk 'egg yolk' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/MONDO_0003778 primary immunodeficiency disease 'primary immunodeficiency disease' SubClassOf 'immune system disease' http://purl.obolibrary.org/obo/MONDO_0001110 chronic pyelonephritis 'chronic pyelonephritis' SubClassOf 'chronic kidney disease' 'chronic pyelonephritis' SubClassOf 'pyelonephritis' http://purl.obolibrary.org/obo/MONDO_0001117 methemoglobinemia 'methemoglobinemia' SubClassOf 'Hemoglobinopathy' http://purl.obolibrary.org/obo/UBERON_3000954 hypobranchial I 'hypobranchial I' SubClassOf 'endochondral bone' http://purl.obolibrary.org/obo/UBERON_3000955 ceratobranchial I 'ceratobranchial I' SubClassOf 'endochondral bone' http://purl.obolibrary.org/obo/UBERON_0007386 pelvic appendage lymph vessel 'pelvic appendage lymph vessel' SubClassOf 'appendage lymph vessel' http://purl.obolibrary.org/obo/UBERON_3000952 posterior radial 'posterior radial' SubClassOf 'endochondral bone' http://purl.obolibrary.org/obo/UBERON_0007385 pectoral appendage lymph vessel 'pectoral appendage lymph vessel' SubClassOf 'appendage lymph vessel' http://purl.obolibrary.org/obo/MONDO_0015758 primary cutaneous T-cell lymphoma 'primary cutaneous T-cell lymphoma' SubClassOf 'T-cell non-Hodgkin lymphoma' 'primary cutaneous T-cell lymphoma' SubClassOf 'primary cutaneous lymphoma' http://purl.obolibrary.org/obo/UBERON_0007384 appendage lymph vessel 'appendage lymph vessel' SubClassOf 'lymphatic vessel' http://purl.obolibrary.org/obo/UBERON_3000950 os triangulare 'os triangulare' SubClassOf 'endochondral bone' http://purl.obolibrary.org/obo/MONDO_0015757 lymphoid hemopathy 'lymphoid hemopathy' SubClassOf 'Genetic tumor of hematopoietic and lymphoid tissues' http://purl.obolibrary.org/obo/UBERON_3000951 anterior radial 'anterior radial' SubClassOf 'endochondral bone' http://purl.obolibrary.org/obo/MONDO_0015756 myeloid hemopathy 'myeloid hemopathy' SubClassOf 'Genetic tumor of hematopoietic and lymphoid tissues' http://purl.obolibrary.org/obo/UBERON_0007381 epidermal scale 'epidermal scale' SubClassOf 'scale' http://purl.obolibrary.org/obo/UBERON_3000956 hypobranchial II 'hypobranchial II' SubClassOf 'endochondral bone' http://purl.obolibrary.org/obo/MONDO_0003789 hereditary papillary renal cell carcinoma 'hereditary papillary renal cell carcinoma' SubClassOf 'papillary renal cell carcinoma' 'hereditary papillary renal cell carcinoma' SubClassOf 'hereditary renal cell carcinoma' 'hereditary papillary renal cell carcinoma' EquivalentTo 'papillary renal cell carcinoma' and ('has modifier' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0001128 nasal cavity cancer 'nasal cavity cancer' SubClassOf 'sensory system cancer' 'nasal cavity cancer' SubClassOf 'respiratory system cancer' 'nasal cavity cancer' SubClassOf 'head and neck malignant neoplasia' 'nasal cavity cancer' SubClassOf 'nasal cavity neoplasm' http://purl.obolibrary.org/obo/MONDO_0003783 lymphopenia (disease) 'lymphopenia (disease)' SubClassOf 'leukocyte disease' http://purl.obolibrary.org/obo/MONDO_0003780 T-cell immunodeficiency 'T-cell immunodeficiency' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/UBERON_0034984 nerve to quadratus femoris 'nerve to quadratus femoris' SubClassOf 'nerve' http://purl.obolibrary.org/obo/UBERON_3000965 basale commune (carpal) 'basale commune (carpal)' SubClassOf 'distal carpal bone' http://purl.obolibrary.org/obo/UBERON_3000966 angulosplenial 'angulosplenial' SubClassOf 'dermal bone' 'angulosplenial' SubClassOf 'bone of lower jaw' http://purl.obolibrary.org/obo/MONDO_0015760 T-cell non-Hodgkin lymphoma 'T-cell non-Hodgkin lymphoma' SubClassOf 'non-Hodgkins lymphoma' http://purl.obolibrary.org/obo/MONDO_0015531 non-Langerhans cell histiocytosis 'non-Langerhans cell histiocytosis' DisjointWith 'Langerhans Cell Histiocytosis' 'non-Langerhans cell histiocytosis' SubClassOf 'lymphatic system disease' 'non-Langerhans cell histiocytosis' SubClassOf 'systemic disease' http://purl.obolibrary.org/obo/MONDO_0015530 trigeminal autonomic cephalalgia 'trigeminal autonomic cephalalgia' SubClassOf 'hypnic headache (disease)' 'trigeminal autonomic cephalalgia' SubClassOf 'neurovascular disease' 'trigeminal autonomic cephalalgia' SubClassOf 'trigeminal nerve disease' http://purl.obolibrary.org/obo/MONDO_0003569 cranial nerve neuropathy 'cranial nerve neuropathy' SubClassOf 'nervous system disease' 'cranial nerve neuropathy' SubClassOf 'head disease' http://purl.obolibrary.org/obo/MONDO_0015542 secondary hemophagocytic lymphohistiocytosis 'secondary hemophagocytic lymphohistiocytosis' SubClassOf 'has modifier' some 'acquired' 'secondary hemophagocytic lymphohistiocytosis' EquivalentTo 'hemophagocytic syndrome' and ('has modifier' some 'acquired') 'secondary hemophagocytic lymphohistiocytosis' SubClassOf 'hemophagocytic syndrome' http://purl.obolibrary.org/obo/MONDO_0015540 hemophagocytic syndrome 'hemophagocytic syndrome' SubClassOf 'has modifier' some 'rare' 'hemophagocytic syndrome' SubClassOf 'lymphatic system disease' 'hemophagocytic syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0003578 extragonadal nonseminomatous germ cell tumor 'extragonadal nonseminomatous germ cell tumor' EquivalentTo 'extragonadal germ cell cancer' and 'nongerminomatous germ cell tumor' 'extragonadal nonseminomatous germ cell tumor' SubClassOf 'extragonadal non-dysgerminomatous germ cell tumor' 'extragonadal nonseminomatous germ cell tumor' SubClassOf 'extragonadal germ cell cancer' http://purl.obolibrary.org/obo/UBERON_0019197 dorsal nerve of penis 'dorsal nerve of penis' SubClassOf 'pelvis nerve' 'dorsal nerve of penis' SubClassOf 'nerve of penis' http://purl.obolibrary.org/obo/UBERON_0019198 dorsal nerve of clitoris 'dorsal nerve of clitoris' SubClassOf 'pelvis nerve' 'dorsal nerve of clitoris' SubClassOf 'nerve of clitoris' http://purl.obolibrary.org/obo/UBERON_0019196 iliac artery endothelium 'iliac artery endothelium' SubClassOf 'endothelium of artery' http://purl.obolibrary.org/obo/MONDO_0015574 chronic cutaneous lupus erythematosus 'chronic cutaneous lupus erythematosus' SubClassOf 'has modifier' some 'rare' 'chronic cutaneous lupus erythematosus' SubClassOf 'cutaneous lupus erythematosus' http://purl.obolibrary.org/obo/MONDO_0015572 cerebral malformation due to abnormal neuronal migration 'cerebral malformation due to abnormal neuronal migration' SubClassOf 'Cerebral malformation with epilepsy' http://purl.obolibrary.org/obo/UBERON_0019190 mucous gland of lung 'mucous gland of lung' SubClassOf 'mucous gland' 'mucous gland of lung' SubClassOf 'respiratory system gland' http://purl.obolibrary.org/obo/MONDO_0040566 inherited glutathione metabolism disease 'inherited glutathione metabolism disease' SubClassOf 'Disorder of the gamma-glutamyl cycle' 'inherited glutathione metabolism disease' SubClassOf 'sulfur metabolism disease' http://purl.obolibrary.org/obo/UBERON_3010456 lower blastopore lip 'lower blastopore lip' SubClassOf 'blastopore lip' http://purl.obolibrary.org/obo/UBERON_3010457 upper blastopore lip 'upper blastopore lip' SubClassOf 'blastopore lip' http://purl.obolibrary.org/obo/UBERON_3010452 non-involuting marginal zone 'non-involuting marginal zone' SubClassOf 'marginal zone of embryo' http://purl.obolibrary.org/obo/UBERON_3010453 ventral marginal zone 'ventral marginal zone' SubClassOf 'marginal zone of embryo' http://purl.obolibrary.org/obo/UBERON_3010454 ventro-lateral marginal zone 'ventro-lateral marginal zone' SubClassOf 'marginal zone of embryo' http://purl.obolibrary.org/obo/UBERON_3010455 blastopore lip 'blastopore lip' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0009867 Hatschek's diverticulum 'Hatschek's diverticulum' SubClassOf 'primordium' http://purl.obolibrary.org/obo/UBERON_0009868 Hatschek's left diverticulum 'Hatschek's left diverticulum' SubClassOf 'Hatschek's diverticulum' http://purl.obolibrary.org/obo/UBERON_0009869 Hatschek's right diverticulum 'Hatschek's right diverticulum' SubClassOf 'Hatschek's diverticulum' http://purl.obolibrary.org/obo/UBERON_3010450 dorso-lateral marginal zone 'dorso-lateral marginal zone' SubClassOf 'marginal zone of embryo' http://purl.obolibrary.org/obo/UBERON_3010451 involuting marginal zone 'involuting marginal zone' SubClassOf 'marginal zone of embryo' http://purl.obolibrary.org/obo/UBERON_0009860 ascidian digestive gland 'ascidian digestive gland' SubClassOf 'digestive system gland' http://purl.obolibrary.org/obo/UBERON_0007204 brachiocephalic vasculature 'brachiocephalic vasculature' SubClassOf 'vasculature' http://purl.obolibrary.org/obo/UBERON_0009861 ascidian neural complex 'ascidian neural complex' SubClassOf 'gland' http://purl.obolibrary.org/obo/UBERON_3010463 animal cap 'animal cap' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_3010464 animal cap inner layer 'animal cap inner layer' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_3010465 animal cap outer layer 'animal cap outer layer' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0010854 skin of front of neck 'skin of front of neck' SubClassOf 'skin of neck' http://purl.obolibrary.org/obo/UBERON_0010855 skin of forelimb wing 'skin of forelimb wing' SubClassOf 'forelimb skin' http://purl.obolibrary.org/obo/UBERON_0007215 trabecula cranii 'trabecula cranii' SubClassOf 'cartilage element of chondrocranium' http://purl.obolibrary.org/obo/UBERON_0007214 mesenchyme derived from trunk neural crest 'mesenchyme derived from trunk neural crest' SubClassOf 'trunk mesenchyme' http://purl.obolibrary.org/obo/UBERON_3010436 blastocoel roof 'blastocoel roof' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_3010437 post-anal gut 'post-anal gut' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_3010431 archenteron floor 'archenteron floor' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_3010432 archenteron roof 'archenteron roof' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0010880 gular fold 'gular fold' SubClassOf 'skin of front of neck' http://purl.obolibrary.org/obo/UBERON_0009887 interlobar vein 'interlobar vein' SubClassOf 'vein' 'renal interlobular vein' DisjointWith 'interlobar vein' http://purl.obolibrary.org/obo/UBERON_0009888 Koller's sickle 'Koller's sickle' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0009889 secondary heart field 'secondary heart field' SubClassOf 'embryonic structure' 'secondary heart field' SubClassOf 'anlage' http://purl.obolibrary.org/obo/UBERON_0009885 interlobar artery 'interlobular artery' DisjointWith 'interlobar artery' 'interlobar artery' SubClassOf 'artery' http://purl.obolibrary.org/obo/UBERON_0019201 gemellus muscle 'gemellus muscle' SubClassOf 'hindlimb stylopod muscle' http://purl.obolibrary.org/obo/UBERON_0019202 inferior gemellus muscle 'inferior gemellus muscle' SubClassOf 'gemellus muscle' http://purl.obolibrary.org/obo/UBERON_3010447 M. extensor digitorum communis longus 'M. extensor digitorum communis longus' SubClassOf 'pectoral complex muscle' http://purl.obolibrary.org/obo/UBERON_0019200 skin of anterior chest 'skin of anterior chest' SubClassOf 'skin of chest' http://purl.obolibrary.org/obo/UBERON_3010449 dorsal marginal zone 'dorsal marginal zone' SubClassOf 'marginal zone of embryo' http://purl.obolibrary.org/obo/UBERON_0019206 tongue papilla epithelium 'tongue papilla epithelium' SubClassOf 'epithelium of tongue' 'tongue papilla epithelium' SubClassOf 'oral epithelium' http://purl.obolibrary.org/obo/UBERON_0019203 superior gemellus muscle 'superior gemellus muscle' SubClassOf 'gemellus muscle' http://purl.obolibrary.org/obo/UBERON_0019204 skin epithelium 'skin epithelium' SubClassOf 'ecto-epithelium' http://purl.obolibrary.org/obo/UBERON_0010879 tusk 'tusk' SubClassOf 'tooth' http://purl.obolibrary.org/obo/UBERON_0010878 humeral patagium 'humeral patagium' SubClassOf 'skin of forelimb wing' http://purl.obolibrary.org/obo/UBERON_0009891 facial mesenchyme 'facial mesenchyme' SubClassOf 'head mesenchyme' http://purl.obolibrary.org/obo/UBERON_0007238 1st arch maxillary component '1st arch maxillary component' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0007237 1st arch mandibular component '1st arch mandibular component' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_3010496 mandibular artery 'mandibular artery' SubClassOf 'systemic artery' 'mandibular artery' SubClassOf 'head blood vessel' http://purl.obolibrary.org/obo/UBERON_3010498 cutaneus artery 'cutaneus artery' SubClassOf 'artery' http://purl.obolibrary.org/obo/UBERON_3010499 coeliaco-mesenteric artery 'coeliaco-mesenteric artery' SubClassOf 'artery' http://purl.obolibrary.org/obo/UBERON_3010494 lateral pretrosal artery 'lateral pretrosal artery' SubClassOf 'systemic artery' 'lateral pretrosal artery' SubClassOf 'auricular blood vessel' 'lateral pretrosal artery' SubClassOf 'head blood vessel' http://purl.obolibrary.org/obo/UBERON_0009843 prostate epithelial cord 'prostate epithelial cord' SubClassOf 'epithelial cord' http://purl.obolibrary.org/obo/UBERON_0009846 embryonic cloacal epithelium 'embryonic cloacal epithelium' SubClassOf 'anal membrane endodermal component' 'embryonic cloacal epithelium' SubClassOf 'cloacal epithelium' http://purl.obolibrary.org/obo/UBERON_0009847 prostate field 'prostate field' SubClassOf 'anlage' 'prostate field' SubClassOf 'presumptive structure' http://purl.obolibrary.org/obo/UBERON_0009849 tadpole stage 'tadpole stage' SubClassOf 'amphibian larval stage' http://purl.obolibrary.org/obo/UBERON_3010489 muscular artery 'muscular artery' SubClassOf 'systemic artery' http://purl.obolibrary.org/obo/UBERON_0009850 nematode larva 'nematode larva' SubClassOf 'larva' http://purl.obolibrary.org/obo/UBERON_0007289 presumptive rhombomere 1 'presumptive rhombomere 1' SubClassOf 'presumptive structure' http://purl.obolibrary.org/obo/UBERON_0007287 presumptive bulbus arteriosus 'presumptive bulbus arteriosus' SubClassOf 'presumptive structure' http://purl.obolibrary.org/obo/MONDO_0003603 non-functioning pituitary gland neoplasm 'non-functioning pituitary gland neoplasm' SubClassOf 'non-functioning endocrine neoplasm' 'non-functioning pituitary gland neoplasm' SubClassOf 'pituitary tumor' http://purl.obolibrary.org/obo/UBERON_0007299 choroid plexus of tectal ventricle 'choroid plexus of tectal ventricle' SubClassOf 'choroid plexus' http://purl.obolibrary.org/obo/UBERON_0007298 pronephric proximal convoluted tubule 'pronephric proximal convoluted tubule' SubClassOf 'proximal convoluted tubule' 'pronephric proximal convoluted tubule' SubClassOf 'pronephric nephron tubule' http://purl.obolibrary.org/obo/UBERON_0007296 presumptive rhombomere 2 'presumptive rhombomere 2' SubClassOf 'presumptive structure' http://purl.obolibrary.org/obo/MONDO_0003608 optic atrophy 'optic atrophy' SubClassOf 'optic nerve disease' 'optic atrophy' SubClassOf 'neurodegenerative disease' http://purl.obolibrary.org/obo/MONDO_0003606 adrenal medulla cancer 'adrenal medulla cancer' SubClassOf 'adrenal gland cancer' 'adrenal medulla cancer' SubClassOf 'adrenal medulla neoplasm' http://purl.obolibrary.org/obo/MONDO_0003607 neuritis of upper limb 'neuritis of upper limb' SubClassOf 'neuritis' 'neuritis of upper limb' SubClassOf 'limb disorder' http://purl.obolibrary.org/obo/UBERON_0019285 rhombomere 10 'rhombomere 10' SubClassOf 'rhombomere' http://purl.obolibrary.org/obo/UBERON_0019286 rhombomere 11 'rhombomere 11' SubClassOf 'rhombomere' http://purl.obolibrary.org/obo/UBERON_0019284 rhombomere 9 'rhombomere 9' SubClassOf 'rhombomere' http://purl.obolibrary.org/obo/UBERON_3010413 left channel of ventral aorta 'left channel of ventral aorta' SubClassOf 'systemic artery' http://purl.obolibrary.org/obo/UBERON_0019232 manual digit 2, 3 or 4 'manual digit 2, 3 or 4' SubClassOf 'manual digit' 'manual digit 2, 3 or 4' SubClassOf 'digit 2, 3 or 4' http://purl.obolibrary.org/obo/UBERON_0019231 manual digit 1 or 5 'manual digit 1 or 5' SubClassOf 'digit 1 or 5' 'manual digit 1 or 5' SubClassOf 'manual digit' http://purl.obolibrary.org/obo/MONDO_0015619 non-syndromic urogenital tract malformation 'non-syndromic urogenital tract malformation' SubClassOf 'has modifier' some 'has an isolated presentation' 'non-syndromic urogenital tract malformation' EquivalentTo 'Genetic urogenital tract malformation' and ('has modifier' some 'has an isolated presentation') 'non-syndromic urogenital tract malformation' SubClassOf 'Genetic urogenital tract malformation' http://purl.obolibrary.org/obo/UBERON_3010417 posterior palatine artery 'posterior palatine artery' SubClassOf 'artery' http://purl.obolibrary.org/obo/UBERON_0034875 future pituitary gland 'future pituitary gland' SubClassOf 'presumptive structure' http://purl.obolibrary.org/obo/UBERON_0034876 future neurohypophysis 'future neurohypophysis' SubClassOf 'presumptive structure' http://purl.obolibrary.org/obo/UBERON_0034877 angioblastic cord 'angioblastic cord' SubClassOf 'primordium' http://purl.obolibrary.org/obo/UBERON_0034878 prechordal mesoderm 'prechordal mesoderm' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_3010423 larval aorta 'larval aorta' SubClassOf 'aorta' http://purl.obolibrary.org/obo/UBERON_3010424 right channel of ventral aorta 'right channel of ventral aorta' SubClassOf 'systemic artery' http://purl.obolibrary.org/obo/MONDO_0003646 rectum neuroendocrine neoplasm 'rectum neuroendocrine neoplasm' SubClassOf 'intestinal neuroendocrine neoplasm' 'rectum neuroendocrine neoplasm' SubClassOf 'epithelial neoplasm of rectum' 'rectum neuroendocrine neoplasm' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/UBERON_0019221 digit 1 or 5 'digit 1 or 5' SubClassOf 'digit' http://purl.obolibrary.org/obo/UBERON_0019222 digit 2, 3 or 4 'digit 2, 3 or 4' SubClassOf 'digit' http://purl.obolibrary.org/obo/MONDO_0003641 central nervous system hematopoietic neoplasm 'central nervous system hematopoietic neoplasm' SubClassOf 'hematopoietic and lymphoid cell neoplasm' 'central nervous system hematopoietic neoplasm' SubClassOf 'Central Nervous System Neoplasm' http://purl.obolibrary.org/obo/UBERON_0010890 pelvic complex muscle 'pelvic complex muscle' SubClassOf 'skeletal muscle organ' http://purl.obolibrary.org/obo/UBERON_0010891 pectoral complex muscle 'pectoral complex muscle' SubClassOf 'skeletal muscle organ' http://purl.obolibrary.org/obo/UBERON_0034884 juxtaglomerular arteriole 'juxtaglomerular arteriole' SubClassOf 'arteriole' 'juxtaglomerular arteriole' SubClassOf 'kidney arterial blood vessel' http://purl.obolibrary.org/obo/UBERON_6001920 insect embryonic/larval brain 'insect embryonic/larval brain' SubClassOf 'ganglion of central nervous system' 'insect embryonic/larval brain' SubClassOf 'brain' http://purl.obolibrary.org/obo/UBERON_0034885 viscerocranial mucosa 'viscerocranial mucosa' SubClassOf 'mucosa' http://purl.obolibrary.org/obo/UBERON_0010898 gastralium 'gastralium' SubClassOf 'dermal bone' 'rib' DisjointWith 'gastralium' 'gastralium' SubClassOf 'abdominal segment bone' http://purl.obolibrary.org/obo/UBERON_0007255 intervertebral disk of lumbar vertebra 'intervertebral disk of lumbar vertebra' SubClassOf 'intervertebral disk' http://purl.obolibrary.org/obo/UBERON_0007254 intervertebral disk of thoracic vertebra 'intervertebral disk of thoracic vertebra' SubClassOf 'intervertebral disk' http://purl.obolibrary.org/obo/UBERON_0010895 sequential hermaphroditic organism 'sequential hermaphroditic organism' SubClassOf 'hermaphroditic organism' http://purl.obolibrary.org/obo/UBERON_0007252 intervertebral disk of cervical vertebra 'intervertebral disk of cervical vertebra' SubClassOf 'intervertebral disk' http://purl.obolibrary.org/obo/UBERON_0010899 synchronous hermaphroditic organism 'synchronous hermaphroditic organism' SubClassOf 'hermaphroditic organism' http://purl.obolibrary.org/obo/UBERON_6001919 embryonic/larval central nervous system 'embryonic/larval central nervous system' SubClassOf 'central nervous system' http://purl.obolibrary.org/obo/UBERON_0007257 intervertebral disk of sacral vertebra 'intervertebral disk of sacral vertebra' SubClassOf 'intervertebral disk' http://purl.obolibrary.org/obo/UBERON_6001911 insect embryonic/larval nervous system 'insect embryonic/larval nervous system' SubClassOf 'nervous system' http://purl.obolibrary.org/obo/MONDO_0003656 hemoglobinuria 'hemoglobinuria' SubClassOf 'kidney disease' http://purl.obolibrary.org/obo/UBERON_0019254 upper eyelash 'upper eyelash' SubClassOf 'strand of hair of face' 'upper eyelash' SubClassOf 'eyelash' http://purl.obolibrary.org/obo/UBERON_0019255 lower eyelash 'lower eyelash' SubClassOf 'eyelash' 'lower eyelash' SubClassOf 'strand of hair of face' http://purl.obolibrary.org/obo/UBERON_0019252 8-cell stage embryo '8-cell stage embryo' SubClassOf '4-8 cell stage embryo' http://purl.obolibrary.org/obo/UBERON_0019253 upper secondary incisor tooth 'upper secondary incisor tooth' SubClassOf 'secondary upper tooth' 'upper secondary incisor tooth' SubClassOf 'secondary incisor tooth' 'upper secondary incisor tooth' SubClassOf 'upper jaw incisor' http://purl.obolibrary.org/obo/UBERON_0019250 4-8 cell stage embryo '4-8 cell stage embryo' SubClassOf 'early embryo' http://purl.obolibrary.org/obo/UBERON_0019251 4-cell stage embryo '4-cell stage embryo' SubClassOf 'early embryo' http://purl.obolibrary.org/obo/UBERON_0007270 pelvic appendage musculature 'pelvic appendage musculature' SubClassOf 'appendage musculature' 'pelvic appendage musculature' SubClassOf 'musculature of pelvic complex' http://purl.obolibrary.org/obo/UBERON_0007266 intervertebral disk of atlas 'intervertebral disk of atlas' SubClassOf 'intervertebral disk of cervical vertebra' http://purl.obolibrary.org/obo/UBERON_0007265 intervertebral disk of axis 'intervertebral disk of axis' SubClassOf 'intervertebral disk of cervical vertebra' http://purl.obolibrary.org/obo/UBERON_0007264 intervertebral disk of seventh cervical vertebra 'intervertebral disk of seventh cervical vertebra' SubClassOf 'intervertebral disk of cervical vertebra' http://purl.obolibrary.org/obo/UBERON_0007263 intervertebral disk of sixth cervical vertebra 'intervertebral disk of sixth cervical vertebra' SubClassOf 'intervertebral disk of cervical vertebra' http://purl.obolibrary.org/obo/UBERON_0007262 intervertebral disk of fifth cervical vertebra 'intervertebral disk of fifth cervical vertebra' SubClassOf 'intervertebral disk of cervical vertebra' http://purl.obolibrary.org/obo/UBERON_0007261 intervertebral disk of fourth cervical vertebra 'intervertebral disk of fourth cervical vertebra' SubClassOf 'intervertebral disk of cervical vertebra' http://purl.obolibrary.org/obo/UBERON_0007260 intervertebral disk of third cervical vertebra 'intervertebral disk of third cervical vertebra' SubClassOf 'intervertebral disk of cervical vertebra' http://purl.obolibrary.org/obo/MONDO_0003659 pediatric lymphoma 'pediatric lymphoma' SubClassOf 'childhood cancer' 'pediatric lymphoma' SubClassOf 'lymphoma' http://purl.obolibrary.org/obo/UBERON_0007269 pectoral appendage musculature 'pectoral appendage musculature' SubClassOf 'musculature of pectoral complex' 'pectoral appendage musculature' SubClassOf 'appendage musculature' http://purl.obolibrary.org/obo/UBERON_3010404 capillary system of liver 'capillary system of liver' SubClassOf 'liver blood vessel' 'capillary system of liver' SubClassOf 'capillary' http://purl.obolibrary.org/obo/UBERON_0019241 pedal digit 1 or 5 'pedal digit 1 or 5' SubClassOf 'pedal digit' 'pedal digit 1 or 5' SubClassOf 'digit 1 or 5' http://purl.obolibrary.org/obo/UBERON_0019242 pedal digit 2, 3 or 4 'pedal digit 2, 3 or 4' SubClassOf 'pedal digit' 'pedal digit 2, 3 or 4' SubClassOf 'digit 2, 3 or 4' http://purl.obolibrary.org/obo/UBERON_0007280 presumptive endocardium 'presumptive endocardium' SubClassOf 'presumptive structure' http://purl.obolibrary.org/obo/MONDO_0003660 adult lymphoma 'adult lymphoma' SubClassOf 'lymphoma' http://purl.obolibrary.org/obo/MONDO_0003661 breast lymphoma 'breast lymphoma' SubClassOf 'lymphoma' 'breast lymphoma' SubClassOf 'breast cancer' http://purl.obolibrary.org/obo/UBERON_0019249 2-cell stage embryo '2-cell stage embryo' SubClassOf 'early embryo' http://purl.obolibrary.org/obo/UBERON_0019248 early embryo 'early embryo' SubClassOf 'embryo' http://purl.obolibrary.org/obo/UBERON_0007278 presumptive sinus venosus 'presumptive sinus venosus' SubClassOf 'presumptive structure' http://purl.obolibrary.org/obo/UBERON_0007276 crista of ampulla of lateral semicircular duct of membranous laybrinth 'crista of ampulla of lateral semicircular duct of membranous laybrinth' SubClassOf 'epithelium of lateral semicircular canal' 'crista of ampulla of lateral semicircular duct of membranous laybrinth' SubClassOf 'crista ampullaris neuroepithelium' http://purl.obolibrary.org/obo/UBERON_0007275 crista of ampulla of posterior semicircular duct of membranous laybrinth 'crista of ampulla of anterior semicircular duct of membranous laybrinth' DisjointWith 'crista of ampulla of posterior semicircular duct of membranous laybrinth' 'crista of ampulla of posterior semicircular duct of membranous laybrinth' SubClassOf 'epithelium of posterior semicircular canal' 'crista of ampulla of posterior semicircular duct of membranous laybrinth' SubClassOf 'crista ampullaris neuroepithelium' http://purl.obolibrary.org/obo/UBERON_0007274 crista of ampulla of anterior semicircular duct of membranous laybrinth 'crista of ampulla of anterior semicircular duct of membranous laybrinth' DisjointWith 'crista of ampulla of posterior semicircular duct of membranous laybrinth' 'crista of ampulla of anterior semicircular duct of membranous laybrinth' SubClassOf 'epithelium of superior semicircular canal' 'crista of ampulla of anterior semicircular duct of membranous laybrinth' SubClassOf 'crista ampullaris neuroepithelium' http://purl.obolibrary.org/obo/UBERON_0007271 appendage musculature 'appendage musculature' SubClassOf 'musculature' http://purl.obolibrary.org/obo/UBERON_0007279 presumptive atrioventricular canal 'presumptive atrioventricular canal' SubClassOf 'presumptive structure' http://purl.obolibrary.org/obo/MONDO_0003438 combined small cell lung carcinoma 'combined small cell lung carcinoma' SubClassOf 'Combined Lung Carcinoma' 'combined small cell lung carcinoma' SubClassOf 'small cell lung carcinoma' 'combined small cell lung carcinoma' EquivalentTo 'small cell lung carcinoma' and 'Combined Lung Carcinoma' http://purl.obolibrary.org/obo/MONDO_0003432 strabismus 'strabismus' SubClassOf 'ocular motility disease' http://purl.obolibrary.org/obo/MONDO_0003430 prolactin producing pituitary tumor 'prolactin producing pituitary tumor' SubClassOf 'pituitary tumor' http://purl.obolibrary.org/obo/MONDO_0015412 median facial cleft 'median facial cleft' SubClassOf 'facial cleft' http://purl.obolibrary.org/obo/MONDO_0015411 facial cleft 'facial cleft' SubClassOf 'rare head and neck malformation' 'facial cleft' SubClassOf 'rare maxillo-facial surgical disease' http://purl.obolibrary.org/obo/MONDO_0003441 dystonic disorder 'dystonic disorder' SubClassOf 'movement disorder' http://purl.obolibrary.org/obo/MONDO_0003454 conjunctival cancer 'conjunctival cancer' SubClassOf 'ocular cancer' 'conjunctival cancer' SubClassOf 'Conjunctival tumor' http://purl.obolibrary.org/obo/MONDO_0003478 childhood ependymoma 'childhood ependymoma' SubClassOf 'ependymoma' 'childhood ependymoma' SubClassOf 'childhood neoplasm' http://purl.obolibrary.org/obo/UBERON_0007099 hyoid neural crest 'hyoid neural crest' SubClassOf 'cranial neural crest' http://purl.obolibrary.org/obo/UBERON_0007098 mandibular neural crest 'mandibular neural crest' SubClassOf 'cranial neural crest' http://purl.obolibrary.org/obo/UBERON_0007095 somatic musculature 'somatic musculature' SubClassOf 'musculature of body' http://purl.obolibrary.org/obo/MONDO_0003495 ovarian squamous cell neoplasm 'ovarian squamous cell neoplasm' SubClassOf 'ovarian epithelial tumor' 'ovarian squamous cell neoplasm' SubClassOf 'squamous cell neoplasm' http://purl.obolibrary.org/obo/UBERON_0034693 cremasteric artery 'cremasteric artery' SubClassOf 'systemic artery' http://purl.obolibrary.org/obo/UBERON_0034696 fold of peritoneum 'fold of peritoneum' SubClassOf 'peritoneum' http://purl.obolibrary.org/obo/MONDO_0015476 cysts and fistulae of the face and oral cavity 'cysts and fistulae of the face and oral cavity' SubClassOf 'Rare otorhinolaryngological malformation' http://purl.obolibrary.org/obo/MONDO_0015475 rare head and neck malformation 'rare head and neck malformation' SubClassOf 'developmental defect during embryogenesis' http://purl.obolibrary.org/obo/MONDO_0015489 predominantly medium-vessel vasculitis 'predominantly medium-vessel vasculitis' SubClassOf 'vasculitis' http://purl.obolibrary.org/obo/MONDO_0015488 predominantly large-vessel vasculitis 'predominantly large-vessel vasculitis' SubClassOf 'vasculitis' http://purl.obolibrary.org/obo/MONDO_0015492 Anti-neutrophil cytoplasmic antibody-associated vasculitis 'Anti-neutrophil cytoplasmic antibody-associated vasculitis' SubClassOf 'predominantly small-vessel vasculitis' 'Anti-neutrophil cytoplasmic antibody-associated vasculitis' SubClassOf 'secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis' http://purl.obolibrary.org/obo/MONDO_0015490 predominantly small-vessel vasculitis 'predominantly small-vessel vasculitis' SubClassOf 'vasculitis' http://purl.obolibrary.org/obo/UBERON_0010740 bone of appendage girdle complex 'bone of appendage girdle complex' SubClassOf 'bone' http://purl.obolibrary.org/obo/UBERON_0034710 spinal cord ventricular layer 'spinal cord ventricular layer' SubClassOf 'neural tube ventricular layer' http://purl.obolibrary.org/obo/UBERON_0010741 bone of pectoral complex 'bone of pectoral complex' SubClassOf 'bone of appendage girdle complex' http://purl.obolibrary.org/obo/UBERON_0010742 bone of pelvic complex 'bone of pelvic complex' SubClassOf 'bone of appendage girdle complex' http://purl.obolibrary.org/obo/UBERON_0009748 cephalic neural fold 'cephalic neural fold' SubClassOf 'neural fold' http://purl.obolibrary.org/obo/UBERON_0010748 lymph node follicle 'lymph node follicle' SubClassOf 'lymphoid follicle' http://purl.obolibrary.org/obo/UBERON_0010749 middle pharyngeal constrictor 'middle pharyngeal constrictor' SubClassOf 'constrictor muscle of pharynx' http://purl.obolibrary.org/obo/UBERON_3010105 anterodorsal lateral line nerve (ADLLN) 'anterodorsal lateral line nerve (ADLLN)' SubClassOf 'lateral line nerve' http://purl.obolibrary.org/obo/UBERON_3010109 anteroventral lateral line nerve (AVLLN) 'anteroventral lateral line nerve (AVLLN)' SubClassOf 'lateral line nerve' http://purl.obolibrary.org/obo/UBERON_0009754 blubber 'blubber' SubClassOf 'subcutaneous adipose tissue' http://purl.obolibrary.org/obo/UBERON_0010732 alisphenoid pre-cartilage condensation 'alisphenoid pre-cartilage condensation' SubClassOf 'facial mesenchyme' 'alisphenoid pre-cartilage condensation' SubClassOf 'mesenchyme derived from head neural crest' 'alisphenoid pre-cartilage condensation' SubClassOf 'head mesenchyme from mesoderm' http://purl.obolibrary.org/obo/UBERON_0010733 alisphenoid cartilage element 'alisphenoid cartilage element' SubClassOf 'facial mesenchyme' 'alisphenoid cartilage element' SubClassOf 'cartilage element of chondrocranium' 'alisphenoid cartilage element' SubClassOf 'pharyngeal arch cartilage' 'alisphenoid cartilage element' SubClassOf 'head mesenchyme from mesoderm' 'alisphenoid cartilage element' SubClassOf 'mesenchyme derived from head neural crest' http://purl.obolibrary.org/obo/UBERON_0009758 abdominal ganglion 'abdominal ganglion of visceral hump' DisjointWith 'abdominal ganglion' 'abdominal ganglion' SubClassOf 'trunk ganglion' http://purl.obolibrary.org/obo/UBERON_0034725 pterygopalatine nerve 'pterygopalatine nerve' SubClassOf 'nerve of head region' http://purl.obolibrary.org/obo/UBERON_0010737 distal tarsal bone 4 'distal tarsal bone 4' SubClassOf 'distal tarsal bone' http://purl.obolibrary.org/obo/UBERON_0034727 vestibular bulb artery 'vestibular bulb artery' SubClassOf 'systemic artery' 'vestibular bulb artery' SubClassOf 'abdominal segment blood vessel' http://purl.obolibrary.org/obo/UBERON_0034728 autonomic nerve 'autonomic nerve' SubClassOf 'nerve of head region' http://purl.obolibrary.org/obo/UBERON_0034729 sympathetic nerve 'sympathetic nerve' SubClassOf 'nerve' http://purl.obolibrary.org/obo/UBERON_0010738 distal tarsal bone 5 'distal tarsal bone 5' SubClassOf 'distal tarsal bone' http://purl.obolibrary.org/obo/UBERON_0010739 distal carpal bone 5 'distal carpal bone 5' SubClassOf 'distal carpal bone' http://purl.obolibrary.org/obo/UBERON_0009767 proximal interphalangeal joint 'proximal interphalangeal joint' SubClassOf 'interphalangeal joint' http://purl.obolibrary.org/obo/UBERON_0009768 distal interphalangeal joint 'distal interphalangeal joint' SubClassOf 'interphalangeal joint' http://purl.obolibrary.org/obo/UBERON_0009769 left common cardinal vein 'left common cardinal vein' SubClassOf 'common cardinal vein' http://purl.obolibrary.org/obo/UBERON_0007109 meconium 'meconium' SubClassOf 'feces' http://purl.obolibrary.org/obo/UBERON_0007106 chorionic villus 'chorionic villus' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_6001661 genital disc primordium 'genital disc primordium' SubClassOf 'imaginal disc primordium' http://purl.obolibrary.org/obo/UBERON_6001663 female genital disc primordium 'female genital disc primordium' SubClassOf 'genital disc primordium' http://purl.obolibrary.org/obo/UBERON_6001662 male genital disc primordium 'male genital disc primordium' SubClassOf 'genital disc primordium' http://purl.obolibrary.org/obo/UBERON_0010750 prefrontal bone 'prefrontal bone' SubClassOf 'facial bone' 'prefrontal bone' SubClassOf 'dermal bone' http://purl.obolibrary.org/obo/UBERON_0010751 squamous part of temporal bone primordium 'squamous part of temporal bone primordium' SubClassOf 'primordium' http://purl.obolibrary.org/obo/UBERON_6001664 embryonic/larval circulatory system 'embryonic/larval circulatory system' SubClassOf 'circulatory system' http://purl.obolibrary.org/obo/UBERON_0010754 germinal center 'germinal center' SubClassOf 'lymphoid tissue' http://purl.obolibrary.org/obo/UBERON_0010755 secondary follicle corona 'secondary follicle corona' SubClassOf 'lymphoid tissue' http://purl.obolibrary.org/obo/UBERON_0007111 Douglas' pouch 'Douglas' pouch' SubClassOf 'fold of peritoneum' http://purl.obolibrary.org/obo/UBERON_0010752 exoccipital cartilage element 'exoccipital cartilage element' SubClassOf 'cartilage element of chondrocranium' 'exoccipital cartilage element' SubClassOf 'head mesenchyme' http://purl.obolibrary.org/obo/UBERON_0010753 lymph node secondary follicle 'lymph node secondary follicle' SubClassOf 'secondary nodular lymphoid tissue' 'lymph node secondary follicle' SubClassOf 'lymph node follicle' http://purl.obolibrary.org/obo/UBERON_0010759 equine distal sesamoid 'equine distal sesamoid' SubClassOf 'sesamoid bone' 'equine distal sesamoid' SubClassOf 'autopod bone' http://purl.obolibrary.org/obo/UBERON_0034705 developing neuroepithelium 'developing neuroepithelium' SubClassOf 'epithelium' http://purl.obolibrary.org/obo/UBERON_0010756 spleen follicular dendritic cell network 'spleen follicular dendritic cell network' SubClassOf 'lymphoid tissue' http://purl.obolibrary.org/obo/UBERON_0034706 proliferating neuroepithelium 'proliferating neuroepithelium' SubClassOf 'developing neuroepithelium' http://purl.obolibrary.org/obo/UBERON_0010757 rib 8 'rib 8' SubClassOf 'rib' http://purl.obolibrary.org/obo/UBERON_0034707 differentiating neuroepithelium 'differentiating neuroepithelium' SubClassOf 'developing neuroepithelium' http://purl.obolibrary.org/obo/UBERON_0009771 left anterior cardinal vein 'left anterior cardinal vein' SubClassOf 'anterior cardinal vein' http://purl.obolibrary.org/obo/UBERON_0009772 right anterior cardinal vein 'right anterior cardinal vein' SubClassOf 'anterior cardinal vein' http://purl.obolibrary.org/obo/UBERON_0009773 renal tubule 'renal tubule' SubClassOf 'epithelial tube' http://purl.obolibrary.org/obo/UBERON_0007115 deciduous tooth 'deciduous tooth' SubClassOf 'tooth' 'deciduous tooth' DisjointWith 'secondary tooth' http://purl.obolibrary.org/obo/UBERON_6001658 ventral prothoracic disc primordium 'ventral prothoracic disc primordium' SubClassOf 'ventral thoracic disc primordium' http://purl.obolibrary.org/obo/UBERON_6001657 ventral thoracic disc primordium 'ventral thoracic disc primordium' SubClassOf 'imaginal disc primordium' http://purl.obolibrary.org/obo/UBERON_3010136 M. cruralis 'M. cruralis' SubClassOf 'pelvic complex muscle' http://purl.obolibrary.org/obo/UBERON_6001650 labial disc primordium 'labial disc primordium' SubClassOf 'imaginal disc primordium' http://purl.obolibrary.org/obo/UBERON_0009708 dorsal pancreas 'dorsal pancreas' SubClassOf 'exocrine gland' http://purl.obolibrary.org/obo/UBERON_0009709 ventral pancreas 'ventral pancreas' SubClassOf 'exocrine gland' http://purl.obolibrary.org/obo/UBERON_6001652 eye-antennal disc primordium 'eye-antennal disc primordium' SubClassOf 'imaginal disc primordium' http://purl.obolibrary.org/obo/UBERON_6001653 dorsal thoracic disc primordium 'dorsal thoracic disc primordium' SubClassOf 'imaginal disc primordium' http://purl.obolibrary.org/obo/UBERON_6001656 dorsal metathoracic disc primordium 'dorsal metathoracic disc primordium' SubClassOf 'dorsal thoracic disc primordium' http://purl.obolibrary.org/obo/UBERON_6001655 dorsal mesothoracic disc primordium 'dorsal mesothoracic disc primordium' SubClassOf 'dorsal thoracic disc primordium' http://purl.obolibrary.org/obo/UBERON_3010130 taenia tecti transversalis 'taenia tecti transversalis' SubClassOf 'cartilage element of chondrocranium' http://purl.obolibrary.org/obo/UBERON_3010132 taenia tecti medialis 'taenia tecti medialis' SubClassOf 'cartilage element of chondrocranium' http://purl.obolibrary.org/obo/UBERON_6001649 imaginal disc primordium 'imaginal disc primordium' SubClassOf 'primordium' 'imaginal disc primordium' SubClassOf 'embryonic imaginal precursor' http://purl.obolibrary.org/obo/UBERON_6001648 embryonic imaginal precursor 'embryonic imaginal precursor' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0009719 tunicate siphon 'tunicate siphon' SubClassOf 'appendage' http://purl.obolibrary.org/obo/UBERON_0009712 endocardium of right ventricle 'endocardium of right ventricle' SubClassOf 'endocardium of ventricle' http://purl.obolibrary.org/obo/UBERON_0009713 endocardium of left ventricle 'endocardium of left ventricle' SubClassOf 'endocardium of ventricle' http://purl.obolibrary.org/obo/UBERON_0009714 intermaxillary process 'intermaxillary process' SubClassOf 'embryonic nasal process' http://purl.obolibrary.org/obo/UBERON_3010115 posterior lateral line nerve (PLLN) 'posterior lateral line nerve (PLLN)' SubClassOf 'lateral line nerve' http://purl.obolibrary.org/obo/UBERON_3000793 anomocoelous 'anomocoelous' SubClassOf 'bony vertebral centrum' http://purl.obolibrary.org/obo/UBERON_0010721 distal tarsal bone 'distal tarsal bone' SubClassOf 'tarsal bone' 'distal tarsal bone' SubClassOf 'distal mesopodial bone' http://purl.obolibrary.org/obo/UBERON_0009721 atrial siphon 'atrial siphon' SubClassOf 'tunicate siphon' http://purl.obolibrary.org/obo/UBERON_0009722 entire pharyngeal arch endoderm 'entire pharyngeal arch endoderm' SubClassOf 'endo-epithelium' 'entire pharyngeal arch endoderm' SubClassOf 'foregut epithelium' http://purl.obolibrary.org/obo/UBERON_0010722 accessory bone 'accessory bone' SubClassOf 'bone' http://purl.obolibrary.org/obo/UBERON_0010725 accessory navicular bone 'accessory navicular bone' SubClassOf 'pes bone' 'accessory navicular bone' SubClassOf 'accessory bone' http://purl.obolibrary.org/obo/UBERON_3000796 imbricate neural arch 'imbricate neural arch' SubClassOf 'neural arch' http://purl.obolibrary.org/obo/UBERON_0010726 os vesalianum manus 'os vesalianum manus' SubClassOf 'accessory bone' 'os vesalianum manus' SubClassOf 'distal carpal bone' http://purl.obolibrary.org/obo/UBERON_3000797 non-imbricate neural arch 'non-imbricate neural arch' SubClassOf 'neural arch' http://purl.obolibrary.org/obo/UBERON_0010723 os vesalianum pedis 'os vesalianum pedis' SubClassOf 'accessory bone' 'os vesalianum pedis' SubClassOf 'distal tarsal bone' http://purl.obolibrary.org/obo/UBERON_3000794 displasiocoelous 'displasiocoelous' SubClassOf 'bony vertebral centrum' http://purl.obolibrary.org/obo/UBERON_0010727 sutural bone 'sutural bone' SubClassOf 'flat bone' 'sutural bone' SubClassOf 'cranial bone' http://purl.obolibrary.org/obo/UBERON_0010728 sphenoid lesser wing pre-cartilage condensation 'sphenoid lesser wing pre-cartilage condensation' SubClassOf 'head mesenchyme from mesoderm' 'sphenoid lesser wing pre-cartilage condensation' SubClassOf 'facial mesenchyme' http://purl.obolibrary.org/obo/UBERON_0009720 oral siphon 'oral siphon' SubClassOf 'tunicate siphon' http://purl.obolibrary.org/obo/UBERON_3010126 middle lateral line nerve (MLLN) 'middle lateral line nerve (MLLN)' SubClassOf 'lateral line nerve' http://purl.obolibrary.org/obo/UBERON_3010128 taeniae tecti marginalis 'taeniae tecti marginalis' SubClassOf 'cartilage element of chondrocranium' http://purl.obolibrary.org/obo/UBERON_3010125 musculus levator bulbi 'musculus levator bulbi' SubClassOf 'extra-ocular muscle' http://purl.obolibrary.org/obo/UBERON_0007165 proximal radio-ulnar joint 'proximal radio-ulnar joint' SubClassOf 'radio-ulnar joint' http://purl.obolibrary.org/obo/UBERON_0007164 distal radio-ulnar joint 'distal radio-ulnar joint' SubClassOf 'radio-ulnar joint' http://purl.obolibrary.org/obo/UBERON_0007162 lateral arcuate ligament 'lateral arcuate ligament' SubClassOf 'arcuate ligament' 'medial arcuate ligament' DisjointWith 'lateral arcuate ligament' http://purl.obolibrary.org/obo/UBERON_0007161 medial arcuate ligament 'medial arcuate ligament' DisjointWith 'lateral arcuate ligament' 'medial arcuate ligament' SubClassOf 'arcuate ligament' http://purl.obolibrary.org/obo/UBERON_0019143 intramuscular adipose tissue 'intramuscular adipose tissue' SubClassOf 'adipose tissue' http://purl.obolibrary.org/obo/UBERON_0007178 muscularis mucosae of colon 'muscularis mucosae of colon' SubClassOf 'muscularis mucosae of large intestine' http://purl.obolibrary.org/obo/UBERON_0034770 bulbourethral gland epithelium 'bulbourethral gland epithelium' SubClassOf 'epithelium of male urethra' 'bulbourethral gland epithelium' SubClassOf 'epithelial layer of duct' http://purl.obolibrary.org/obo/UBERON_0007188 mesothelium of serous pericardium 'mesothelium of serous pericardium' SubClassOf 'mesothelium of pericardial cavity' http://purl.obolibrary.org/obo/UBERON_0007187 pericardial parietal mesothelium 'pericardial parietal mesothelium' SubClassOf 'mesothelium of pericardial cavity' 'pericardial parietal mesothelium' SubClassOf 'parietal mesothelium' http://purl.obolibrary.org/obo/UBERON_0007186 pericardial visceral mesothelium 'pericardial visceral mesothelium' SubClassOf 'visceral mesothelium' 'pericardial visceral mesothelium' SubClassOf 'mesothelium of pericardial cavity' http://purl.obolibrary.org/obo/UBERON_0007185 pericardio-peritoneal canal mesothelium 'pericardio-peritoneal canal mesothelium' SubClassOf 'mesothelium' http://purl.obolibrary.org/obo/MONDO_0003500 squamous cell bile duct carcinoma 'squamous cell bile duct carcinoma' SubClassOf 'squamous cell carcinoma of liver and intrahepatic biliary tract' 'squamous cell bile duct carcinoma' SubClassOf 'bile duct carcinoma' http://purl.obolibrary.org/obo/UBERON_0007197 hermaphroditic organism 'hermaphroditic organism' SubClassOf 'whole organism' http://purl.obolibrary.org/obo/UBERON_0007194 vesicular gland 'vesicular gland' SubClassOf 'male accessory sex gland' http://purl.obolibrary.org/obo/MONDO_0003510 malignant testicular germ cell tumor 'malignant testicular germ cell tumor' SubClassOf 'Malignant Germ Cell Tumor' 'malignant testicular germ cell tumor' SubClassOf 'Testicular Germ Cell Tumor' 'malignant testicular germ cell tumor' SubClassOf 'testicular carcinoma' http://purl.obolibrary.org/obo/UBERON_0007121 skin nerve field 'skin nerve field' SubClassOf 'zone of skin' http://purl.obolibrary.org/obo/UBERON_0007120 premolar tooth 'mitral valve' DisjointWith 'premolar tooth' 'cuspid' DisjointWith 'premolar tooth' 'molar tooth' DisjointWith 'premolar tooth' 'premolar tooth' SubClassOf 'molariform tooth' 'incisor tooth' DisjointWith 'premolar tooth' http://purl.obolibrary.org/obo/UBERON_0007128 glomeral mesenchyme 'glomeral mesenchyme' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0034762 areolar sweat gland 'areolar sweat gland' SubClassOf 'apocrine sweat gland' http://purl.obolibrary.org/obo/UBERON_0034765 glabella skin 'glabella skin' SubClassOf 'skin of forehead' http://purl.obolibrary.org/obo/MONDO_0015503 nose and cavum anomaly 'nose and cavum anomaly' SubClassOf 'Rare otorhinolaryngological malformation' http://purl.obolibrary.org/obo/MONDO_0015502 pinnae and external auditory canal anomaly 'pinnae and external auditory canal anomaly' SubClassOf 'genetic otorhinolaryngological malformation' 'pinnae and external auditory canal anomaly' SubClassOf 'Rare otorhinolaryngological malformation' http://purl.obolibrary.org/obo/MONDO_0003537 precursor T-lymphoblastic lymphoma/leukemia 'precursor T-lymphoblastic lymphoma/leukemia' EquivalentTo 'T-cell and NK-cell neoplasm' and 'precursor lymphoblastic lymphoma/leukemia' 'precursor T-lymphoblastic lymphoma/leukemia' SubClassOf 'T-cell and NK-cell neoplasm' 'precursor T-lymphoblastic lymphoma/leukemia' SubClassOf 'precursor lymphoblastic lymphoma/leukemia' http://purl.obolibrary.org/obo/MONDO_0003531 papillary eccrine carcinoma 'papillary eccrine carcinoma' SubClassOf 'papillary adenocarcinoma' 'papillary eccrine carcinoma' SubClassOf 'eccrine carcinoma' 'papillary eccrine carcinoma' EquivalentTo 'papillary adenocarcinoma' and 'eccrine carcinoma' http://purl.obolibrary.org/obo/UBERON_0007146 posterior spinal artery 'posterior spinal artery' SubClassOf 'spinal artery' 'anterior spinal artery' DisjointWith 'posterior spinal artery' http://purl.obolibrary.org/obo/UBERON_3000712 opisthocoelous 'opisthocoelous' SubClassOf 'bony vertebral centrum' http://purl.obolibrary.org/obo/UBERON_3000713 epichordal 'epichordal' SubClassOf 'bony vertebral centrum' http://purl.obolibrary.org/obo/UBERON_0007144 embryonic post-anal tail 'embryonic post-anal tail' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0034735 oviduct albumen gland 'oviduct albumen gland' SubClassOf 'female reproductive gland' http://purl.obolibrary.org/obo/UBERON_3000711 procoelous 'procoelous' SubClassOf 'bony vertebral centrum' http://purl.obolibrary.org/obo/UBERON_0034736 coracoclavicular ligament 'coracoclavicular ligament' SubClassOf 'skeletal ligament' http://purl.obolibrary.org/obo/UBERON_0007141 visceral mesothelium 'visceral mesothelium' SubClassOf 'mesothelium' http://purl.obolibrary.org/obo/MONDO_0015514 genetic endocrine growth disease 'genetic endocrine growth disease' SubClassOf 'endocrine system disease' 'genetic endocrine growth disease' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/UBERON_0007140 parietal mesothelium 'parietal mesothelium' SubClassOf 'mesothelium' http://purl.obolibrary.org/obo/UBERON_3000718 ectochordal 'ectochordal' SubClassOf 'bony vertebral centrum' http://purl.obolibrary.org/obo/UBERON_3000719 holochordal 'holochordal' SubClassOf 'bony vertebral centrum' http://purl.obolibrary.org/obo/UBERON_3000716 acoelous 'acoelous' SubClassOf 'bony vertebral centrum' http://purl.obolibrary.org/obo/UBERON_0007149 inferior thyroid artery 'inferior thyroid artery' SubClassOf 'thyroid artery' http://purl.obolibrary.org/obo/UBERON_3000717 amphicoelous 'amphicoelous' SubClassOf 'bony vertebral centrum' http://purl.obolibrary.org/obo/UBERON_3000714 perichordal 'perichordal' SubClassOf 'bony vertebral centrum' http://purl.obolibrary.org/obo/UBERON_3000715 heterocoelous 'heterocoelous' SubClassOf 'bony vertebral centrum' http://purl.obolibrary.org/obo/MONDO_0003546 third cranial nerve disease 'third cranial nerve disease' SubClassOf 'cranial nerve neuropathy' 'third cranial nerve disease' SubClassOf 'peripheral nervous system disease' http://purl.obolibrary.org/obo/MONDO_0003541 adult acute lymphoblastic leukemia 'adult acute lymphoblastic leukemia' SubClassOf 'acute lymphoblastic leukemia' http://purl.obolibrary.org/obo/MONDO_0003544 spinal cord cancer 'spinal cord cancer' SubClassOf 'spinal cord neoplasm' 'spinal cord cancer' SubClassOf 'central nervous system cancer' http://purl.obolibrary.org/obo/UBERON_0007160 inferior petrosal sinus 'inferior petrosal sinus' SubClassOf 'paired venous dural sinus' http://purl.obolibrary.org/obo/UBERON_0007157 superior thyroid vein 'superior thyroid vein' SubClassOf 'thyroid vein' http://purl.obolibrary.org/obo/UBERON_0007156 inferior thyroid vein 'inferior thyroid vein' SubClassOf 'thyroid vein' http://purl.obolibrary.org/obo/UBERON_0007155 superior epigastric vein 'superior epigastric vein' SubClassOf 'thoracic vein' 'superior epigastric vein' SubClassOf 'epigastric vein' http://purl.obolibrary.org/obo/UBERON_0007154 inferior epigastric vein 'inferior epigastric vein' SubClassOf 'epigastric vein' http://purl.obolibrary.org/obo/UBERON_0007153 superior epigastric artery 'superior epigastric artery' SubClassOf 'epigastric artery' 'superior epigastric artery' SubClassOf 'systemic artery' http://purl.obolibrary.org/obo/UBERON_0007152 inferior sagittal sinus 'inferior sagittal sinus' SubClassOf 'sagittal sinus' http://purl.obolibrary.org/obo/UBERON_3000720 stegochordal 'stegochordal' SubClassOf 'bony vertebral centrum' http://purl.obolibrary.org/obo/UBERON_0007150 superior thyroid artery 'superior thyroid artery' SubClassOf 'branch of external carotid artery' 'superior thyroid artery' SubClassOf 'thyroid artery' http://purl.obolibrary.org/obo/MONDO_0003549 adenosquamous bile duct carcinoma 'adenosquamous bile duct carcinoma' SubClassOf 'squamous cell bile duct carcinoma' 'adenosquamous bile duct carcinoma' SubClassOf 'liver adenosquamous carcinoma' http://purl.obolibrary.org/obo/MONDO_0017955 granulomatous autoinflammatory syndrome 'granulomatous autoinflammatory syndrome' SubClassOf 'autoinflammatory syndrome' http://purl.obolibrary.org/obo/MONDO_0017956 mixed autoinflammatory and autoimmune syndrome 'mixed autoinflammatory and autoimmune syndrome' SubClassOf 'Rare genetic systemic or rheumatologic disease' 'mixed autoinflammatory and autoimmune syndrome' SubClassOf 'hereditary connective tissue disorder' 'mixed autoinflammatory and autoimmune syndrome' SubClassOf 'autoinflammatory syndrome' http://purl.obolibrary.org/obo/MONDO_0017957 unclassified autoinflammatory syndrome 'unclassified autoinflammatory syndrome' SubClassOf 'autoinflammatory syndrome' http://purl.obolibrary.org/obo/MONDO_0017952 non-familial rare disease with dilated cardiomyopathy 'non-familial rare disease with dilated cardiomyopathy' SubClassOf 'non-familial dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0017954 pyogenic autoinflammatory syndrome 'pyogenic autoinflammatory syndrome' SubClassOf 'autoinflammatory syndrome' http://purl.obolibrary.org/obo/MONDO_0003321 hereditary Wilms' tumor 'hereditary Wilms' tumor' SubClassOf 'Genetic renal tumor' 'hereditary Wilms' tumor' SubClassOf 'Nephroblastoma' 'hereditary Wilms' tumor' SubClassOf 'Wilms tumor' 'hereditary Wilms' tumor' SubClassOf 'kidney cancer' 'hereditary Wilms' tumor' EquivalentTo 'Wilms tumor' and ('has modifier' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0015301 primary cutaneous amyloidosis 'primary cutaneous amyloidosis' SubClassOf 'amyloidosis' 'primary cutaneous amyloidosis' SubClassOf 'dermis disease' http://purl.obolibrary.org/obo/MONDO_0003337 acute hemorrhagic encephalitis 'acute hemorrhagic encephalitis' SubClassOf 'viral encephalitis' http://purl.obolibrary.org/obo/MONDO_0003334 demyelinating polyneuropathy 'demyelinating polyneuropathy' SubClassOf 'polyneuropathy' 'demyelinating polyneuropathy' SubClassOf 'demyelinating disease' http://purl.obolibrary.org/obo/MONDO_0003335 chronic polyneuropathy 'chronic polyneuropathy' SubClassOf 'polyneuropathy' http://purl.obolibrary.org/obo/MONDO_0003331 ovarian monodermal teratoma 'ovarian monodermal teratoma' SubClassOf 'ovarian teratoma' http://purl.obolibrary.org/obo/MONDO_0015319 rare disease with Pierre Robin syndrome 'rare disease with Pierre Robin syndrome' SubClassOf 'Syndrome or malformation associated with head and neck malformations' http://purl.obolibrary.org/obo/MONDO_0003346 central nervous system vasculitis 'central nervous system vasculitis' SubClassOf 'vasculitis' 'central nervous system vasculitis' SubClassOf 'central nervous system disease' 'central nervous system vasculitis' SubClassOf 'neurovascular disease' http://purl.obolibrary.org/obo/MONDO_0003342 benign perivascular tumor 'benign perivascular tumor' SubClassOf 'pericytic neoplasm' 'benign perivascular tumor' SubClassOf 'benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0015323 teratogenic Pierre Robin syndrome 'teratogenic Pierre Robin syndrome' SubClassOf 'rare disease with Pierre Robin syndrome' http://purl.obolibrary.org/obo/MONDO_0017985 congenital radioulnar synostosis 'congenital radioulnar synostosis' SubClassOf 'congenital abnormality' 'congenital radioulnar synostosis' SubClassOf 'Joint formation defects' http://purl.obolibrary.org/obo/MONDO_0017986 disorder of plasmalogens biosynthesis 'disorder of plasmalogens biosynthesis' SubClassOf 'Peroxisomal disease' 'disorder of plasmalogens biosynthesis' SubClassOf 'Disorder of lipid metabolism' http://purl.obolibrary.org/obo/MONDO_0017987 syringomyelia 'syringomyelia' SubClassOf 'spinal cord disease' http://purl.obolibrary.org/obo/MONDO_0003350 granular cell leiomyosarcoma 'granular cell leiomyosarcoma' SubClassOf 'granular cell carcinoma' 'granular cell leiomyosarcoma' EquivalentTo 'leiomyosarcoma' and 'Granular Cell Tumor' 'granular cell leiomyosarcoma' SubClassOf 'Granular Cell Tumor' 'granular cell leiomyosarcoma' SubClassOf 'leiomyosarcoma' 'granular cell leiomyosarcoma' SubClassOf 'granular cell cancer' http://purl.obolibrary.org/obo/MONDO_0042966 inherited mitral valve disease 'inherited mitral valve disease' EquivalentTo 'mitral valve disease' and ('has modifier' some 'inherited') 'inherited mitral valve disease' SubClassOf 'mitral valve disease' 'inherited mitral valve disease' SubClassOf 'inherited genetic disease' http://purl.obolibrary.org/obo/MONDO_0042968 partial duplication of chromosome 12 'partial duplication of chromosome 12' SubClassOf 'Partial autosomal trisomy/tetrasomy' http://purl.obolibrary.org/obo/MONDO_0015333 progeroid syndrome 'progeroid syndrome' SubClassOf 'developmental defect during embryogenesis' http://purl.obolibrary.org/obo/MONDO_0003366 hydrarthrosis 'hydrarthrosis' SubClassOf 'joint disease' http://purl.obolibrary.org/obo/MONDO_0003363 malignant dermis tumor 'malignant dermis tumor' SubClassOf 'skin cancer' 'malignant dermis tumor' SubClassOf 'dermis tumor' http://purl.obolibrary.org/obo/MONDO_0042973 familial osteosclerosis 'familial osteosclerosis' SubClassOf 'osteosclerosis' 'familial osteosclerosis' EquivalentTo 'osteosclerosis' and ('has modifier' some 'inherited') 'familial osteosclerosis' SubClassOf 'hereditary connective tissue disorder' http://purl.obolibrary.org/obo/MONDO_0042976 vitamin B deficiency 'vitamin B deficiency' SubClassOf 'vitamin deficiency disorder' http://purl.obolibrary.org/obo/MONDO_0015342 acute transverse myelitis 'acute transverse myelitis' SubClassOf 'disorder of medulla oblongata' 'acute transverse myelitis' SubClassOf 'Myelitis' http://purl.obolibrary.org/obo/MONDO_0003393 thymus gland disease 'thymus gland disease' SubClassOf 'immune system disease' 'thymus gland disease' SubClassOf 'hematologic disease' 'thymus gland disease' SubClassOf 'thoracic disease' 'thymus gland disease' SubClassOf 'endocrine system disease' http://purl.obolibrary.org/obo/MONDO_0042982 GATA2 deficiency with susceptibility to MDS/AML 'GATA2 deficiency with susceptibility to MDS/AML' SubClassOf 'immunodeficiency disease' 'GATA2 deficiency with susceptibility to MDS/AML' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0042983 neurocutaneous syndrome 'neurocutaneous syndrome' SubClassOf 'nervous system disease' http://purl.obolibrary.org/obo/UBERON_0009622 pronephric proximal straight tubule 'pronephric proximal straight tubule' SubClassOf 'pronephric nephron tubule' 'pronephric proximal straight tubule' SubClassOf 'proximal straight tubule' http://purl.obolibrary.org/obo/UBERON_0009624 lumbar nerve 'lumbar nerve' SubClassOf 'spinal nerve' http://purl.obolibrary.org/obo/UBERON_0009625 sacral nerve 'sacral nerve' SubClassOf 'spinal nerve' http://purl.obolibrary.org/obo/UBERON_0009629 coccygeal nerve 'coccygeal nerve' SubClassOf 'spinal nerve' http://purl.obolibrary.org/obo/UBERON_0009621 tail somite 'tail somite' SubClassOf 'somite' http://purl.obolibrary.org/obo/UBERON_0009635 parachordal cartilage 'parachordal cartilage' SubClassOf 'cartilage element of chondrocranium' http://purl.obolibrary.org/obo/UBERON_0009636 prechordal cartilage 'prechordal cartilage' SubClassOf 'cartilage element of chondrocranium' http://purl.obolibrary.org/obo/UBERON_0009639 body of sphenoid 'body of sphenoid' SubClassOf 'endochondral bone' 'body of sphenoid' SubClassOf 'neurocranium bone' 'body of sphenoid' SubClassOf 'facial bone' http://purl.obolibrary.org/obo/UBERON_6001792 anterior dorsal histoblast nest abdominal 'anterior dorsal histoblast nest abdominal' SubClassOf 'dorsal histoblast nest abdominal' http://purl.obolibrary.org/obo/UBERON_0009645 ampullary gland 'ampullary gland' SubClassOf 'male reproductive gland' http://purl.obolibrary.org/obo/UBERON_0009647 tympanic membrane epithelium 'tympanic membrane epithelium' SubClassOf 'middle ear epithelium' http://purl.obolibrary.org/obo/UBERON_6001790 histoblast nest 'histoblast nest' SubClassOf 'histoblast' http://purl.obolibrary.org/obo/UBERON_0009640 hypophyseal cartilage 'hypophyseal cartilage' SubClassOf 'cartilage element of chondrocranium' http://purl.obolibrary.org/obo/UBERON_6001789 histoblast 'histoblast' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_3010200 vasculature of respiratory integument 'vasculature of respiratory integument' SubClassOf 'respiratory system blood vessel' http://purl.obolibrary.org/obo/UBERON_6001784 genital disc 'genital disc' SubClassOf 'epithelial sac' 'genital disc' SubClassOf 'ecto-epithelium' http://purl.obolibrary.org/obo/UBERON_6001785 male genital disc 'male genital disc' SubClassOf 'genital disc' http://purl.obolibrary.org/obo/UBERON_6001787 female genital disc 'female genital disc' SubClassOf 'genital disc' http://purl.obolibrary.org/obo/UBERON_0009655 auricular artery 'auricular artery' SubClassOf 'artery' http://purl.obolibrary.org/obo/UBERON_0009657 artery of lip 'artery of lip' SubClassOf 'artery' http://purl.obolibrary.org/obo/UBERON_0009658 pancreaticoduodenal artery 'pancreaticoduodenal artery' SubClassOf 'artery' http://purl.obolibrary.org/obo/UBERON_0009659 spermatic artery 'spermatic artery' SubClassOf 'testicular artery' http://purl.obolibrary.org/obo/UBERON_0009654 alveolar artery 'alveolar artery' SubClassOf 'artery' 'alveolar artery' SubClassOf 'head blood vessel' http://purl.obolibrary.org/obo/UBERON_6001776 dorsal thoracic disc 'dorsal thoracic disc' SubClassOf 'epithelial sac' 'dorsal thoracic disc' SubClassOf 'ecto-epithelium' http://purl.obolibrary.org/obo/UBERON_6001764 labial disc 'labial disc' SubClassOf 'ecto-epithelium' 'labial disc' SubClassOf 'epithelial sac' http://purl.obolibrary.org/obo/UBERON_6001765 clypeo-labral disc 'clypeo-labral disc' SubClassOf 'epithelial sac' 'clypeo-labral disc' SubClassOf 'ecto-epithelium' http://purl.obolibrary.org/obo/UBERON_6001756 larval abdominal segment 9 'larval abdominal segment 9' SubClassOf 'abdominal segment 9' 'larval abdominal segment 9' SubClassOf 'larval abdominal segment' http://purl.obolibrary.org/obo/UBERON_6001755 larval abdominal segment 8 'larval abdominal segment 8' SubClassOf 'abdominal segment 8' 'larval abdominal segment 8' SubClassOf 'larval abdominal segment' http://purl.obolibrary.org/obo/UBERON_6001745 larval metathoracic segment 'larval metathoracic segment' SubClassOf 'larval thoracic segment' 'larval metathoracic segment' SubClassOf 'metathoracic segment' http://purl.obolibrary.org/obo/UBERON_6001747 larval abdominal segment 'larval abdominal segment' SubClassOf 'larval segment' 'larval abdominal segment' SubClassOf 'insect abdominal segment' http://purl.obolibrary.org/obo/UBERON_6001740 larval labial segment 'larval labial segment' SubClassOf 'labial segment' 'larval labial segment' SubClassOf 'larval gnathal segment' http://purl.obolibrary.org/obo/UBERON_6001742 larval thoracic segment 'larval thoracic segment' SubClassOf 'larval segment' 'larval thoracic segment' SubClassOf 'thoracic segment' http://purl.obolibrary.org/obo/UBERON_6001744 larval mesothoracic segment 'larval mesothoracic segment' SubClassOf 'mesothoracic segment' 'larval mesothoracic segment' SubClassOf 'larval thoracic segment' http://purl.obolibrary.org/obo/UBERON_6001743 larval prothoracic segment 'larval prothoracic segment' SubClassOf 'larval thoracic segment' 'larval prothoracic segment' SubClassOf 'prothoracic segment' http://purl.obolibrary.org/obo/UBERON_0009611 midbrain neural plate 'midbrain neural plate' SubClassOf 'neural plate' http://purl.obolibrary.org/obo/UBERON_0009614 hindbrain neural plate 'hindbrain neural plate' SubClassOf 'neural plate' http://purl.obolibrary.org/obo/UBERON_0009615 midbrain hindbrain boundary neural plate 'midbrain hindbrain boundary neural plate' SubClassOf 'presumptive structure' http://purl.obolibrary.org/obo/UBERON_0009617 head paraxial mesoderm 'head paraxial mesoderm' SubClassOf 'head mesenchyme' http://purl.obolibrary.org/obo/UBERON_0009618 trunk paraxial mesoderm 'trunk paraxial mesoderm' SubClassOf 'trunk mesenchyme' http://purl.obolibrary.org/obo/UBERON_0009610 forebrain neural plate 'forebrain neural plate' SubClassOf 'neural plate' http://purl.obolibrary.org/obo/UBERON_6001735 larval antennal segment 'larval antennal segment' SubClassOf 'larval procephalic segment' 'larval antennal segment' SubClassOf 'antennal segment' http://purl.obolibrary.org/obo/UBERON_6001737 larval gnathal segment 'larval gnathal segment' SubClassOf 'gnathal segment' 'larval gnathal segment' SubClassOf 'larval head segment' http://purl.obolibrary.org/obo/UBERON_6001731 larval ocular segment 'larval ocular segment' SubClassOf 'larval procephalic segment' 'larval ocular segment' SubClassOf 'ocular segment' http://purl.obolibrary.org/obo/UBERON_6001730 larval head 'larval head' SubClassOf 'head' http://purl.obolibrary.org/obo/UBERON_6001733 larval procephalic segment 'larval procephalic segment' SubClassOf 'larval head segment' 'larval procephalic segment' SubClassOf 'procephalic segment' http://purl.obolibrary.org/obo/UBERON_6001732 larval head segment 'larval head segment' SubClassOf 'larval segment' 'larval head segment' SubClassOf 'head segment' http://purl.obolibrary.org/obo/UBERON_6001729 larval segment 'larval segment' SubClassOf 'organismal segment' http://purl.obolibrary.org/obo/UBERON_0010690 manual digit 1 epithelium 'manual digit 1 epithelium' SubClassOf 'manual digit epithelium' http://purl.obolibrary.org/obo/UBERON_0010693 pedal digit 1 epithelium 'pedal digit 1 epithelium' SubClassOf 'pedal digit epithelium' http://purl.obolibrary.org/obo/UBERON_0019042 reproductive system mucosa 'reproductive system mucosa' SubClassOf 'mucosa' http://purl.obolibrary.org/obo/UBERON_3000856 intercalary element of fore digit 'intercalary element of fore digit' SubClassOf 'manual digit bone' http://purl.obolibrary.org/obo/UBERON_0009668 ventral mesentery 'ventral mesentery' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/MONDO_0003403 testicular non-seminomatous germ cell cancer 'testicular non-seminomatous germ cell cancer' SubClassOf 'malignant testicular germ cell tumor' 'testicular non-seminomatous germ cell cancer' SubClassOf 'Testicular Non-Seminomatous Germ Cell Tumor' http://purl.obolibrary.org/obo/UBERON_0007010 cleaving embryo 'cleaving embryo' SubClassOf 'embryo' http://purl.obolibrary.org/obo/UBERON_0009671 nasal fin 'nasal fin' SubClassOf 'nasal cavity epithelium' 'nasal fin' SubClassOf 'oral epithelium from ectoderm' http://purl.obolibrary.org/obo/UBERON_0009673 accessory XI nerve cranial component 'accessory XI nerve cranial component' SubClassOf 'cranial nerve' http://purl.obolibrary.org/obo/UBERON_0009674 accessory XI nerve spinal component 'accessory XI nerve spinal component' SubClassOf 'spinal nerve' http://purl.obolibrary.org/obo/MONDO_0003408 ovarian primitive germ cell tumor 'ovarian primitive germ cell tumor' SubClassOf 'malignant germ cell tumor of ovary' http://purl.obolibrary.org/obo/UBERON_0009675 chorda tympani branch of facial nerve 'chorda tympani branch of facial nerve' SubClassOf 'cranial nerve' http://purl.obolibrary.org/obo/MONDO_0003409 colonic disease 'colonic disease' SubClassOf 'large intestine disease' http://purl.obolibrary.org/obo/UBERON_0009688 posterior inferior cerebellar artery 'posterior inferior cerebellar artery' SubClassOf 'branch of vertebral artery' 'posterior inferior cerebellar artery' DisjointWith 'anterior inferior cerebellar artery' http://purl.obolibrary.org/obo/UBERON_0009689 anterior inferior cerebellar artery 'posterior inferior cerebellar artery' DisjointWith 'anterior inferior cerebellar artery' 'anterior inferior cerebellar artery' SubClassOf 'branch of basilar artery' 'anterior inferior cerebellar artery' SubClassOf 'cerebellar artery' http://purl.obolibrary.org/obo/UBERON_0007023 adult organism 'adult organism' SubClassOf 'whole organism' http://purl.obolibrary.org/obo/UBERON_0007021 sexually immature organism 'sexually immature organism' SubClassOf 'whole organism' http://purl.obolibrary.org/obo/UBERON_0007026 presumptive gut 'presumptive gut' SubClassOf 'presumptive structure' http://purl.obolibrary.org/obo/UBERON_0009687 middle cardiac vein 'middle cardiac vein' SubClassOf 'cardiac vein' http://purl.obolibrary.org/obo/MONDO_0015405 cerebrofacial arteriovenous metameric syndrome 'cerebrofacial arteriovenous metameric syndrome' SubClassOf 'rare genetic vascular tumor' 'cerebrofacial arteriovenous metameric syndrome' SubClassOf 'Genetic neurovascular malformation' 'cerebrofacial arteriovenous metameric syndrome' SubClassOf 'arteriovenous hemangioma/malformation' http://purl.obolibrary.org/obo/UBERON_0009695 epithelium of laryngopharynx 'epithelium of laryngopharynx' SubClassOf 'pharyngeal epithelium' http://purl.obolibrary.org/obo/UBERON_0009697 epithelium of appendix 'epithelium of appendix' SubClassOf 'caecum epithelium' http://purl.obolibrary.org/obo/UBERON_0007037 mechanosensory system 'mechanosensory system' SubClassOf 'sensory system' http://purl.obolibrary.org/obo/UBERON_4200070 median fin spine 'median fin spine' SubClassOf 'median fin lepidotrichium' 'median fin spine' SubClassOf 'fin spine' http://purl.obolibrary.org/obo/UBERON_4200075 fin spine 'fin spine' SubClassOf 'lepidotrichium' http://purl.obolibrary.org/obo/MONDO_0003204 villous adenocarcinoma 'villous adenocarcinoma' SubClassOf 'adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0003206 acquired hemangioma 'acquired hemangioma' EquivalentTo 'hemangioma' and ('has modifier' some 'acquired') 'acquired hemangioma' SubClassOf 'has modifier' some 'acquired' 'acquired hemangioma' SubClassOf 'hemangioma' http://purl.obolibrary.org/obo/MONDO_0017841 autoimmune disease with skin involvement 'autoimmune disease with skin involvement' SubClassOf 'skin disease' 'autoimmune disease with skin involvement' SubClassOf 'type II hypersensitivity reaction disease' 'autoimmune disease with skin involvement' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/UBERON_4200083 postaxial centrale 'postaxial centrale' SubClassOf 'centrale' http://purl.obolibrary.org/obo/UBERON_4200084 preaxial centrale 'preaxial centrale' SubClassOf 'centrale' http://purl.obolibrary.org/obo/MONDO_0003218 adenocarcinoma in situ 'adenocarcinoma in situ' SubClassOf 'in situ carcinoma' 'adenocarcinoma in situ' EquivalentTo 'in situ carcinoma' and 'adenocarcinoma' 'adenocarcinoma in situ' SubClassOf 'adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0003212 nasal cavity carcinoma 'nasal cavity carcinoma' SubClassOf 'nasal cavity cancer' 'nasal cavity carcinoma' SubClassOf 'head and neck carcinoma' http://purl.obolibrary.org/obo/UBERON_4200093 guard scale 'guard scale' SubClassOf 'scale' http://purl.obolibrary.org/obo/MONDO_0017858 acute erythroid leukemia 'acute erythroid leukemia' SubClassOf 'unclassified acute myeloid leukemia' 'acute erythroid leukemia' SubClassOf 'erythroid neoplasm' http://purl.obolibrary.org/obo/UBERON_4200091 ethomosphenoid region 'ethomosphenoid region' SubClassOf 'facial bone' 'ethomosphenoid region' SubClassOf 'endochondral bone' 'ethomosphenoid region' SubClassOf 'neurocranium bone' http://purl.obolibrary.org/obo/UBERON_4200099 lateral extrascapular 'lateral extrascapular' SubClassOf 'extrascapula' http://purl.obolibrary.org/obo/MONDO_0003225 bone marrow disease 'bone marrow disease' SubClassOf 'immune system disease' 'bone marrow disease' SubClassOf 'hematologic disease' 'bone marrow disease' SubClassOf 'skeletal system disease' http://purl.obolibrary.org/obo/MONDO_0003235 optic nerve glioma 'optic nerve glioma' SubClassOf 'optic nerve neoplasm' 'optic nerve glioma' SubClassOf 'optic pathway glioma' http://purl.obolibrary.org/obo/UBERON_3010818 hepatic peritoneum 'hepatic peritoneum' SubClassOf 'peritoneum' http://purl.obolibrary.org/obo/UBERON_3010819 gastrointestinal peritoneum 'gastrointestinal peritoneum' SubClassOf 'peritoneum' http://purl.obolibrary.org/obo/UBERON_3010815 m. flexor indicis superficialis proprius 'm. flexor indicis superficialis proprius' SubClassOf 'skeletal muscle organ' http://purl.obolibrary.org/obo/MONDO_0015215 non-syndromic diaphragmatic or abdominal wall malformation 'non-syndromic diaphragmatic or abdominal wall malformation' SubClassOf 'has modifier' some 'has an isolated presentation' 'non-syndromic diaphragmatic or abdominal wall malformation' SubClassOf 'diaphragmatic or abdominal wall malformation' 'non-syndromic diaphragmatic or abdominal wall malformation' EquivalentTo 'diaphragmatic or abdominal wall malformation' and ('has modifier' some 'has an isolated presentation') http://purl.obolibrary.org/obo/MONDO_0015216 syndromic diaphragmatic or abdominal wall malformation 'syndromic diaphragmatic or abdominal wall malformation' SubClassOf 'diaphragmatic or abdominal wall malformation' 'syndromic diaphragmatic or abdominal wall malformation' EquivalentTo 'diaphragmatic or abdominal wall malformation' and ('has modifier' some 'has a syndromic presentation') 'syndromic diaphragmatic or abdominal wall malformation' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/UBERON_4200031 caudalipuboischiotibialis 'caudalipuboischiotibialis' SubClassOf 'skeletal muscle organ' http://purl.obolibrary.org/obo/MONDO_0003249 pineal gland cancer 'pineal gland cancer' SubClassOf 'pineal body neoplasm' 'pineal gland cancer' SubClassOf 'thalamic cancer' 'pineal gland cancer' SubClassOf 'malignant endocrine neoplasm' http://purl.obolibrary.org/obo/UBERON_3010821 hyoquadrate process 'hyoquadrate process' SubClassOf 'palatoquadrate cartilage' http://purl.obolibrary.org/obo/UBERON_4200049 cartilago sesamoides 'cartilago sesamoides' SubClassOf 'sesamoid bone' http://purl.obolibrary.org/obo/UBERON_3010828 commissura terminales of hyoid apparatus 'commissura terminales of hyoid apparatus' SubClassOf 'pharyngeal arch cartilage' http://purl.obolibrary.org/obo/MONDO_0003243 hepatocellular clear cell carcinoma 'hepatocellular clear cell carcinoma' EquivalentTo 'hepatocellular carcinoma' and 'clear cell adenocarcinoma' 'hepatocellular clear cell carcinoma' SubClassOf 'hepatocellular carcinoma' 'hepatocellular clear cell carcinoma' SubClassOf 'clear cell adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0015222 syndromic respiratory or mediastinal malformation 'syndromic respiratory or mediastinal malformation' SubClassOf 'syndromic disease' 'syndromic respiratory or mediastinal malformation' SubClassOf 'Genetic respiratory or mediastinal malformation' 'syndromic respiratory or mediastinal malformation' SubClassOf 'has modifier' some 'rare' 'syndromic respiratory or mediastinal malformation' EquivalentTo 'Genetic respiratory or mediastinal malformation' and ('has modifier' some 'has a syndromic presentation') http://purl.obolibrary.org/obo/MONDO_0003257 posterior pituitary gland neoplasm 'posterior pituitary gland neoplasm' SubClassOf 'pituitary tumor' http://purl.obolibrary.org/obo/MONDO_0003252 granular cell cancer 'granular cell cancer' SubClassOf 'Granular Cell Tumor' 'granular cell cancer' SubClassOf 'peripheral nervous system cancer' 'granular cell cancer' SubClassOf 'adenocarcinoma' 'granular cell cancer' SubClassOf 'nerve sheath neoplasm' http://purl.obolibrary.org/obo/UBERON_4200056 hypocercal tail 'hypocercal tail' SubClassOf 'caudal fin' http://purl.obolibrary.org/obo/UBERON_4200054 heterocercal tail 'heterocercal tail' SubClassOf 'caudal fin' http://purl.obolibrary.org/obo/UBERON_4200055 homocercal tail 'homocercal tail' SubClassOf 'caudal fin' http://purl.obolibrary.org/obo/UBERON_4200053 diphycercal tail 'diphycercal tail' SubClassOf 'caudal fin' http://purl.obolibrary.org/obo/MONDO_0003268 mixed glioma 'mixed glioma' SubClassOf 'mixed neoplasm' 'mixed glioma' SubClassOf 'glioma' http://purl.obolibrary.org/obo/MONDO_0003263 childhood cerebellar neoplasm 'childhood cerebellar neoplasm' EquivalentTo 'cerebellar neoplasm' and 'childhood infratentorial neoplasm' 'childhood cerebellar neoplasm' SubClassOf 'cerebellar neoplasm' 'childhood cerebellar neoplasm' SubClassOf 'childhood infratentorial neoplasm' http://purl.obolibrary.org/obo/UBERON_3010801 ramus lateral 'ramus lateral' SubClassOf 'posterior lateral line nerve (PLLN)' http://purl.obolibrary.org/obo/UBERON_3010804 ramus ventral 'ramus ventral' SubClassOf 'posterior lateral line nerve (PLLN)' http://purl.obolibrary.org/obo/UBERON_4200061 epicercal tail 'epicercal tail' SubClassOf 'caudal fin' http://purl.obolibrary.org/obo/UBERON_4200062 epichordal lepidotrichium 'epichordal lepidotrichium' SubClassOf 'caudal fin lepidotrichium' http://purl.obolibrary.org/obo/MONDO_0054865 encephalopathy due to defective mitochondrial and peroxisomal fission 'encephalopathy due to defective mitochondrial and peroxisomal fission' SubClassOf 'Mitochondrial oxidative phosphorylation disorder with no known mechanism' 'encephalopathy due to defective mitochondrial and peroxisomal fission' SubClassOf 'congenital nervous system disorder' 'encephalopathy due to defective mitochondrial and peroxisomal fission' SubClassOf 'brain disease' 'encephalopathy due to defective mitochondrial and peroxisomal fission' SubClassOf 'Rare genetic neurological disorder' http://purl.obolibrary.org/obo/MONDO_0003277 malignant ear neoplasm 'malignant ear neoplasm' SubClassOf 'head and neck malignant neoplasia' 'malignant ear neoplasm' SubClassOf 'sensory system cancer' 'malignant ear neoplasm' SubClassOf 'ear neoplasm' http://purl.obolibrary.org/obo/UBERON_0007729 interphalangeal joint of manual digit 2 'interphalangeal joint of manual digit 2' SubClassOf 'interphalangeal joint of manus' http://purl.obolibrary.org/obo/UBERON_0007728 interphalangeal joint of pedal digit 5 'interphalangeal joint of pedal digit 5' SubClassOf 'interphalangeal joint of pes' http://purl.obolibrary.org/obo/UBERON_0007727 interphalangeal joint of pedal digit 4 'interphalangeal joint of pedal digit 4' SubClassOf 'interphalangeal joint of pes' http://purl.obolibrary.org/obo/MONDO_0003274 thoracic cancer 'thoracic cancer' SubClassOf 'cancer' 'thoracic cancer' SubClassOf 'neoplasm of thorax' http://purl.obolibrary.org/obo/MONDO_0003275 middle ear cancer 'middle ear cancer' SubClassOf 'malignant ear neoplasm' 'middle ear cancer' SubClassOf 'neoplasm of middle ear' 'middle ear cancer' SubClassOf 'auditory system cancer' http://purl.obolibrary.org/obo/MONDO_0003276 middle ear disease 'middle ear disease' SubClassOf 'disease of ear' 'middle ear disease' SubClassOf 'auditory system disease' http://purl.obolibrary.org/obo/UBERON_0007726 interphalangeal joint of pedal digit 3 'interphalangeal joint of pedal digit 3' SubClassOf 'interphalangeal joint of pes' http://purl.obolibrary.org/obo/UBERON_0007725 interphalangeal joint of pedal digit 2 'interphalangeal joint of pedal digit 2' SubClassOf 'interphalangeal joint of pes' http://purl.obolibrary.org/obo/UBERON_0007724 interphalangeal joint of pedal digit 1 'interphalangeal joint of pedal digit 1' SubClassOf 'interphalangeal joint of pes' http://purl.obolibrary.org/obo/UBERON_0007723 interphalangeal joint of manual digit 1 'interphalangeal joint of manual digit 1' SubClassOf 'interphalangeal joint of manus' http://purl.obolibrary.org/obo/UBERON_0007722 interphalangeal joint of manus 'interphalangeal joint of manus' SubClassOf 'interphalangeal joint' 'interphalangeal joint of manus' SubClassOf 'manus joint' http://purl.obolibrary.org/obo/UBERON_0007721 interphalangeal joint of pes 'interphalangeal joint of pes' SubClassOf 'interphalangeal joint' 'interphalangeal joint of pes' SubClassOf 'pes joint' http://purl.obolibrary.org/obo/UBERON_4200009 hypochordal lepidotrichium 'hypochordal lepidotrichium' SubClassOf 'caudal fin lepidotrichium' http://purl.obolibrary.org/obo/UBERON_4200008 inter-clavicle joint 'inter-clavicle joint' SubClassOf 'joint of girdle' http://purl.obolibrary.org/obo/UBERON_4200003 archipterygial fin 'archipterygial fin' SubClassOf 'pectoral fin' http://purl.obolibrary.org/obo/UBERON_0007738 metacarpophalangeal joint of manual digit 2 'metacarpophalangeal joint of manual digit 2' SubClassOf 'metacarpophalangeal joint' http://purl.obolibrary.org/obo/UBERON_0007735 metacarpophalangeal joint of manual digit 1 'metacarpophalangeal joint of manual digit 1' SubClassOf 'metacarpophalangeal joint' http://purl.obolibrary.org/obo/UBERON_0007732 interphalangeal joint of manual digit 5 'interphalangeal joint of manual digit 5' SubClassOf 'interphalangeal joint of manus' http://purl.obolibrary.org/obo/UBERON_0007731 interphalangeal joint of manual digit 4 'interphalangeal joint of manual digit 4' SubClassOf 'interphalangeal joint of manus' http://purl.obolibrary.org/obo/UBERON_0007730 interphalangeal joint of manual digit 3 'interphalangeal joint of manual digit 3' SubClassOf 'interphalangeal joint of manus' http://purl.obolibrary.org/obo/MONDO_0003295 leiomyomatosis 'leiomyomatosis' SubClassOf 'leiomyoma' http://purl.obolibrary.org/obo/UBERON_0007747 metacarpophalangeal joint of manual digit 5 'metacarpophalangeal joint of manual digit 5' SubClassOf 'metacarpophalangeal joint' http://purl.obolibrary.org/obo/UBERON_4200011 pedal centrale 'pedal centrale' SubClassOf 'tarsal bone' 'pedal centrale' SubClassOf 'centrale' http://purl.obolibrary.org/obo/MONDO_0015277 medullary thyroid gland carcinoma 'medullary thyroid gland carcinoma' SubClassOf 'follicular thyroid carcinoma' 'medullary thyroid gland carcinoma' SubClassOf 'neuroendocrine carcinoma' http://purl.obolibrary.org/obo/UBERON_0007744 metacarpophalangeal joint of manual digit 4 'metacarpophalangeal joint of manual digit 4' SubClassOf 'metacarpophalangeal joint' http://purl.obolibrary.org/obo/UBERON_0007741 metacarpophalangeal joint of manual digit 3 'metacarpophalangeal joint of manual digit 3' SubClassOf 'metacarpophalangeal joint' http://purl.obolibrary.org/obo/UBERON_0007750 metatarsophalangeal joint of pedal digit 1 'metatarsophalangeal joint of pedal digit 1' SubClassOf 'metatarsophalangeal joint' http://purl.obolibrary.org/obo/UBERON_0007759 metatarsophalangeal joint of pedal digit 4 'metatarsophalangeal joint of pedal digit 4' SubClassOf 'metatarsophalangeal joint' http://purl.obolibrary.org/obo/UBERON_4200023 anterior dorsal fin 'anterior dorsal fin' SubClassOf 'dorsal fin' http://purl.obolibrary.org/obo/UBERON_0007756 metatarsophalangeal joint of pedal digit 3 'metatarsophalangeal joint of pedal digit 3' SubClassOf 'metatarsophalangeal joint' http://purl.obolibrary.org/obo/UBERON_4200022 extracleithrum 'extracleithrum' SubClassOf 'pectoral girdle bone' 'extracleithrum' SubClassOf 'dermal bone' http://purl.obolibrary.org/obo/UBERON_0007753 metatarsophalangeal joint of pedal digit 2 'metatarsophalangeal joint of pedal digit 2' SubClassOf 'metatarsophalangeal joint' http://purl.obolibrary.org/obo/UBERON_0007719 bone of reproductive organ 'bone of reproductive organ' SubClassOf 'bone' http://purl.obolibrary.org/obo/UBERON_0007718 principal artery to limb 'principal artery to limb' SubClassOf 'artery' http://purl.obolibrary.org/obo/UBERON_0007713 fourth sacral spinal ganglion 'fourth sacral spinal ganglion' SubClassOf 'sacral dorsal root ganglion' http://purl.obolibrary.org/obo/UBERON_0007712 fourth thoracic spinal ganglion 'fourth thoracic spinal ganglion' SubClassOf 'thoracic dorsal root ganglion' http://purl.obolibrary.org/obo/UBERON_0007711 sixth cervical dorsal root ganglion 'sixth cervical dorsal root ganglion' SubClassOf 'cervical dorsal root ganglion' http://purl.obolibrary.org/obo/UBERON_0005144 metanephric glomerular capillary 'metanephric glomerular capillary' SubClassOf 'glomerular capillary' http://purl.obolibrary.org/obo/UBERON_0005141 metanephric short descending thin limb 'metanephric short descending thin limb' SubClassOf 'metanephric nephron epithelium' 'metanephric short descending thin limb' SubClassOf 'short descending thin limb' http://purl.obolibrary.org/obo/UBERON_0005149 metanephric connecting tubule 'metanephric connecting tubule' SubClassOf 'metanephric nephron tubule' 'metanephric connecting tubule' SubClassOf 'renal connecting tubule' http://purl.obolibrary.org/obo/UBERON_0005147 metanephric renal vesicle 'metanephric renal vesicle' SubClassOf 'renal vesicle' 'metanephric renal vesicle' SubClassOf 'metanephric epithelium' http://purl.obolibrary.org/obo/UBERON_0005146 metanephric nephron tubule 'metanephric nephron tubule' SubClassOf 'metanephric tubule' 'metanephric nephron tubule' SubClassOf 'nephron tubule' 'metanephric nephron tubule' SubClassOf 'metanephric nephron epithelium' http://purl.obolibrary.org/obo/UBERON_0005154 epithelial cord 'epithelial cord' SubClassOf 'multilaminar epithelium' http://purl.obolibrary.org/obo/UBERON_0005155 open tracheal system 'open tracheal system' SubClassOf 'respiratory system' http://purl.obolibrary.org/obo/UBERON_0005153 epithelial bud 'epithelial bud' SubClassOf 'epithelial fold' http://purl.obolibrary.org/obo/UBERON_0005151 metanephric proximal tubule 'metanephric proximal tubule' SubClassOf 'proximal tubule' 'metanephric proximal tubule' SubClassOf 'metanephric nephron tubule' http://purl.obolibrary.org/obo/UBERON_0005157 epithelial fold 'epithelial fold' SubClassOf 'epithelium' http://purl.obolibrary.org/obo/UBERON_3010797 m. ypsiloideus posterior 'm. ypsiloideus posterior' SubClassOf 'hypaxial musculature' http://purl.obolibrary.org/obo/UBERON_3010798 ramulus suprabranchialis anterior 'ramulus suprabranchialis anterior' SubClassOf 'middle lateral line nerve (MLLN)' http://purl.obolibrary.org/obo/UBERON_0017156 flexor cruris lateralis muscle 'flexor cruris lateralis muscle' SubClassOf 'hindlimb muscle' 'flexor cruris lateralis muscle' SubClassOf 'flexor muscle' http://purl.obolibrary.org/obo/UBERON_3010799 ramulus suprabranchialis posterior 'ramulus suprabranchialis posterior' SubClassOf 'middle lateral line nerve (MLLN)' http://purl.obolibrary.org/obo/UBERON_3010793 m. ypsiloideus anterior 'm. ypsiloideus anterior' SubClassOf 'hypaxial musculature' http://purl.obolibrary.org/obo/UBERON_3010794 oral ramule 'oral ramule' SubClassOf 'ramus mandibularis externus' http://purl.obolibrary.org/obo/UBERON_3010795 preopercular ramule 'preopercular ramule' SubClassOf 'ramus mandibularis externus' http://purl.obolibrary.org/obo/UBERON_3010796 ramus supraotic 'ramus supraotic' SubClassOf 'middle lateral line nerve (MLLN)' http://purl.obolibrary.org/obo/UBERON_0017157 exoccipital-atlas joint 'exoccipital-atlas joint' SubClassOf 'synovial joint' http://purl.obolibrary.org/obo/UBERON_0005164 ascending limb of loop of Henle 'ascending limb of loop of Henle' SubClassOf 'distal tubule' http://purl.obolibrary.org/obo/UBERON_0005161 pelvic spur 'pelvic spur' SubClassOf 'appendage' http://purl.obolibrary.org/obo/UBERON_3010790 muscle rectus abdominis superficialis 'muscle rectus abdominis superficialis' SubClassOf 'anterior abdominal wall muscle' http://purl.obolibrary.org/obo/UBERON_3010792 musculus rectus abdominis profundus 'musculus rectus abdominis profundus' SubClassOf 'anterior abdominal wall muscle' http://purl.obolibrary.org/obo/UBERON_0005168 renal interlobular vein 'renal interlobular vein' DisjointWith 'interlobar vein' 'renal interlobular vein' SubClassOf 'renal venous blood vessel' 'renal interlobular vein' SubClassOf 'vein of abdomen' http://purl.obolibrary.org/obo/UBERON_0005171 hepatic duct 'cystic duct' DisjointWith 'hepatic duct' 'hepatic duct' SubClassOf 'bile duct' http://purl.obolibrary.org/obo/UBERON_0005109 metanephric smooth muscle tissue 'metanephric smooth muscle tissue' SubClassOf 'smooth muscle tissue' http://purl.obolibrary.org/obo/UBERON_0007762 metatarsophalangeal joint of pedal digit 5 'metatarsophalangeal joint of pedal digit 5' SubClassOf 'metatarsophalangeal joint' http://purl.obolibrary.org/obo/UBERON_0005100 long descending thin limb 'long descending thin limb' SubClassOf 'nephron epithelium' http://purl.obolibrary.org/obo/UBERON_0005107 metanephric cap 'metanephric cap' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0005108 metanephric epithelium 'metanephric epithelium' SubClassOf 'kidney epithelium' 'metanephric epithelium' SubClassOf 'meso-epithelium' http://purl.obolibrary.org/obo/UBERON_0005105 posterior mesonephric tubule 'anterior mesonephric tubule' DisjointWith 'posterior mesonephric tubule' 'posterior mesonephric tubule' SubClassOf 'mesonephric tubule' http://purl.obolibrary.org/obo/UBERON_0005106 metanephric tubule 'metanephric tubule' SubClassOf 'epithelial tube' 'metanephric tubule' SubClassOf 'metanephric epithelium' http://purl.obolibrary.org/obo/UBERON_0005103 mesonephric epithelium 'mesonephric epithelium' SubClassOf 'meso-epithelium' 'mesonephric epithelium' SubClassOf 'kidney epithelium' http://purl.obolibrary.org/obo/UBERON_0005104 anterior mesonephric tubule 'anterior mesonephric tubule' DisjointWith 'posterior mesonephric tubule' 'anterior mesonephric tubule' SubClassOf 'mesonephric tubule' http://purl.obolibrary.org/obo/UBERON_0005101 early distal convoluted tubule 'early distal convoluted tubule' SubClassOf 'meso-epithelium' 'early distal convoluted tubule' SubClassOf 'nephron epithelium' http://purl.obolibrary.org/obo/UBERON_0005102 late distal convoluted tubule 'late distal convoluted tubule' SubClassOf 'meso-epithelium' 'late distal convoluted tubule' SubClassOf 'nephron epithelium' http://purl.obolibrary.org/obo/UBERON_0007773 scrotal sweat gland 'scrotal sweat gland' SubClassOf 'male reproductive gland' 'scrotal sweat gland' SubClassOf 'sweat gland' http://purl.obolibrary.org/obo/UBERON_0007772 scrotal sweat 'scrotal sweat' SubClassOf 'sweat' http://purl.obolibrary.org/obo/UBERON_0007771 epidermis gland 'epidermis gland' SubClassOf 'skin gland' http://purl.obolibrary.org/obo/UBERON_0005118 metanephric early distal convoluted tubule 'metanephric early distal convoluted tubule' SubClassOf 'early distal convoluted tubule' 'metanephric early distal convoluted tubule' SubClassOf 'metanephric nephron epithelium' http://purl.obolibrary.org/obo/UBERON_0007779 transudate 'transudate' SubClassOf 'bodily fluid' http://purl.obolibrary.org/obo/UBERON_0005117 metanephric distal convoluted tubule 'metanephric distal convoluted tubule' SubClassOf 'metanephric nephron tubule' 'metanephric distal convoluted tubule' SubClassOf 'distal convoluted tubule' http://purl.obolibrary.org/obo/UBERON_0007778 umbilical artery endothelium 'umbilical artery endothelium' SubClassOf 'endothelium of artery' http://purl.obolibrary.org/obo/UBERON_0005114 metanephric ascending thin limb 'metanephric ascending thin limb' SubClassOf 'metanephric nephron tubule' 'metanephric ascending thin limb' SubClassOf 'loop of Henle ascending limb thin segment' http://purl.obolibrary.org/obo/UBERON_0007777 umbilical vein endothelium 'umbilical vein endothelium' SubClassOf 'endothelium of vein' http://purl.obolibrary.org/obo/UBERON_0005115 metanephric cortical collecting duct 'metanephric cortical collecting duct' SubClassOf 'cortical collecting duct' http://purl.obolibrary.org/obo/UBERON_0007776 unerupted tooth 'unerupted tooth' SubClassOf 'tooth' http://purl.obolibrary.org/obo/UBERON_0007775 secondary tooth 'deciduous tooth' DisjointWith 'secondary tooth' 'secondary tooth' SubClassOf 'tooth' http://purl.obolibrary.org/obo/UBERON_0005122 metanephric macula densa 'metanephric macula densa' SubClassOf 'metanephric nephron epithelium' 'metanephric macula densa' SubClassOf 'macula densa' http://purl.obolibrary.org/obo/UBERON_0005120 metanephric late distal convoluted tubule 'metanephric late distal convoluted tubule' SubClassOf 'metanephric nephron epithelium' 'metanephric late distal convoluted tubule' SubClassOf 'late distal convoluted tubule' http://purl.obolibrary.org/obo/UBERON_0005129 metanephric distal tubule 'metanephric distal tubule' SubClassOf 'metanephric nephron tubule' 'metanephric distal tubule' SubClassOf 'distal tubule' http://purl.obolibrary.org/obo/UBERON_0005127 metanephric thick ascending limb 'metanephric thick ascending limb' SubClassOf 'thick ascending limb of loop of Henle' 'metanephric thick ascending limb' SubClassOf 'metanephric nephron tubule' http://purl.obolibrary.org/obo/UBERON_0005125 metanephric proximal straight tubule 'metanephric proximal straight tubule' SubClassOf 'metanephric nephron tubule' 'metanephric proximal straight tubule' SubClassOf 'proximal straight tubule' http://purl.obolibrary.org/obo/UBERON_0005124 metanephric proximal convoluted tubule 'metanephric proximal convoluted tubule' SubClassOf 'metanephric nephron tubule' 'metanephric proximal convoluted tubule' SubClassOf 'proximal convoluted tubule' http://purl.obolibrary.org/obo/UBERON_0017102 flexor cruris lateralis pars accessoria muscle 'flexor cruris lateralis pars accessoria muscle' SubClassOf 'flexor cruris lateralis muscle' http://purl.obolibrary.org/obo/UBERON_0007794 secretion of serous gland 'secretion of serous gland' SubClassOf 'bodily fluid' http://purl.obolibrary.org/obo/UBERON_0005133 metanephric glomerulus vasculature 'metanephric glomerulus vasculature' SubClassOf 'renal glomerulus vasculature' http://purl.obolibrary.org/obo/UBERON_0005130 metanephric loop of Henle 'metanephric loop of Henle' SubClassOf 'metanephric nephron tubule' 'metanephric loop of Henle' SubClassOf 'loop of Henle' http://purl.obolibrary.org/obo/UBERON_0005139 metanephric long descending thin limb 'metanephric long descending thin limb' SubClassOf 'metanephric nephron epithelium' 'metanephric long descending thin limb' SubClassOf 'long descending thin limb' http://purl.obolibrary.org/obo/UBERON_0005136 metanephric glomerular endothelium 'metanephric glomerular endothelium' SubClassOf 'glomerular endothelium' 'metanephric glomerular endothelium' SubClassOf 'metanephric glomerular epithelium' http://purl.obolibrary.org/obo/UBERON_0005134 metanephric nephron epithelium 'metanephric nephron epithelium' SubClassOf 'nephron epithelium' 'metanephric nephron epithelium' SubClassOf 'metanephric epithelium' http://purl.obolibrary.org/obo/UBERON_0005135 metanephric glomerular epithelium 'metanephric glomerular epithelium' SubClassOf 'glomerular epithelium' 'metanephric glomerular epithelium' SubClassOf 'metanephric nephron epithelium' http://purl.obolibrary.org/obo/UBERON_3010731 M. coracobrachialis brevis 'M. coracobrachialis brevis' SubClassOf 'pectoral complex muscle' http://purl.obolibrary.org/obo/UBERON_3010734 M. flexor carpi ulnaris 'M. flexor carpi ulnaris' SubClassOf 'pectoral complex muscle' http://purl.obolibrary.org/obo/UBERON_3010730 pterygoideus 'pterygoideus' SubClassOf 'mandibular muscle' http://purl.obolibrary.org/obo/UBERON_3010739 M. flexor antibrachii medialis 'M. flexor antibrachii medialis' SubClassOf 'pectoral complex muscle' http://purl.obolibrary.org/obo/UBERON_3010737 M. palmaris longus 'M. palmaris longus' SubClassOf 'pectoral complex muscle' http://purl.obolibrary.org/obo/UBERON_3010738 M. palmaris profundis 'M. palmaris profundis' SubClassOf 'pectoral complex muscle' http://purl.obolibrary.org/obo/UBERON_3010742 interhyoideus posterior 'interhyoideus posterior' SubClassOf 'mandibular muscle' http://purl.obolibrary.org/obo/UBERON_3010743 M. flexor antibrachii lateralis superficialis 'M. flexor antibrachii lateralis superficialis' SubClassOf 'pectoral complex muscle' http://purl.obolibrary.org/obo/UBERON_3010744 M. flexor antibrachii lateralis profundus 'M. flexor antibrachii lateralis profundus' SubClassOf 'pectoral complex muscle' http://purl.obolibrary.org/obo/UBERON_3010745 M. coccygeosacralis 'M. coccygeosacralis' SubClassOf 'pelvic complex muscle' http://purl.obolibrary.org/obo/UBERON_3010741 M. ulnocarpalis 'M. ulnocarpalis' SubClassOf 'pectoral complex muscle' http://purl.obolibrary.org/obo/UBERON_3010746 T-shaped terminal phalanx 'T-shaped terminal phalanx' SubClassOf 'distal phalanx' http://purl.obolibrary.org/obo/UBERON_3010747 submentalis 'submentalis' SubClassOf 'mandibular muscle' http://purl.obolibrary.org/obo/UBERON_3010748 M. coccygeoiliacus 'M. coccygeoiliacus' SubClassOf 'pelvic complex muscle' http://purl.obolibrary.org/obo/UBERON_3010749 M. iliolumbaris 'M. iliolumbaris' SubClassOf 'pelvic complex muscle' http://purl.obolibrary.org/obo/UBERON_3010710 m. interscapularis 'm. interscapularis' SubClassOf 'pectoral complex muscle' http://purl.obolibrary.org/obo/UBERON_3010711 levator mandibulae externus superficialis 'levator mandibulae externus superficialis' SubClassOf 'mandibular muscle' http://purl.obolibrary.org/obo/UBERON_3010712 levator mandibulae externus profundus 'levator mandibulae externus profundus' SubClassOf 'mandibular muscle' http://purl.obolibrary.org/obo/UBERON_3010713 m. sternoepicoracoideus 'm. sternoepicoracoideus' SubClassOf 'pectoral complex muscle' http://purl.obolibrary.org/obo/UBERON_3010722 ramus palatinus 'ramus palatinus' SubClassOf 'facial nerve' http://purl.obolibrary.org/obo/UBERON_3010729 M. coracobrachialis longus 'M. coracobrachialis longus' SubClassOf 'pectoral complex muscle' http://purl.obolibrary.org/obo/UBERON_3010724 levator quadrati 'levator quadrati' SubClassOf 'mandibular muscle' http://purl.obolibrary.org/obo/UBERON_3010725 M. coracoradialis 'M. coracoradialis' SubClassOf 'pectoral complex muscle' http://purl.obolibrary.org/obo/UBERON_3010778 jugal ramule 'jugal ramule' SubClassOf 'ramus mandibularis externus' http://purl.obolibrary.org/obo/UBERON_3010772 M. dorsalis trunci 'M. dorsalis trunci' SubClassOf 'epaxial musculature' http://purl.obolibrary.org/obo/UBERON_0017180 hemipenis keratinized epithelium 'hemipenis keratinized epithelium' SubClassOf 'keratinized stratified squamous epithelium' http://purl.obolibrary.org/obo/UBERON_3010786 pars subvertebralis 'pars subvertebralis' SubClassOf 'hypaxial musculature' http://purl.obolibrary.org/obo/UBERON_0017164 dorsal cloacal gland 'dorsal cloacal gland' SubClassOf 'cloacal gland' http://purl.obolibrary.org/obo/UBERON_3010787 pars transversalis 'pars transversalis' SubClassOf 'hypaxial musculature' http://purl.obolibrary.org/obo/UBERON_0017161 hemipenial mucuous gland 'hemipenial mucuous gland' SubClassOf 'male reproductive gland' 'hemipenial mucuous gland' SubClassOf 'mucous gland' http://purl.obolibrary.org/obo/UBERON_3010783 m. oblique externus 'm. oblique externus' SubClassOf 'hypaxial musculature' http://purl.obolibrary.org/obo/UBERON_3010784 m. oblique internus 'm. oblique internus' SubClassOf 'hypaxial musculature' http://purl.obolibrary.org/obo/UBERON_0017162 hemipenial holocrine gland 'hemipenial holocrine gland' SubClassOf 'male reproductive gland' 'hemipenial holocrine gland' SubClassOf 'holocrine gland' http://purl.obolibrary.org/obo/UBERON_3010785 m. transversus 'm. transversus' SubClassOf 'hypaxial musculature' http://purl.obolibrary.org/obo/UBERON_0005199 cervical mammary gland 'cervical mammary gland' SubClassOf 'mammary gland' http://purl.obolibrary.org/obo/UBERON_0005196 spleen germinal center 'spleen germinal center' SubClassOf 'germinal center' http://purl.obolibrary.org/obo/UBERON_0005197 segmental spinal nerve 'segmental spinal nerve' SubClassOf 'spinal nerve' http://purl.obolibrary.org/obo/UBERON_0005194 thoracic vein 'thoracic vein' SubClassOf 'thoracic segment blood vessel' 'thoracic vein' SubClassOf 'vein' http://purl.obolibrary.org/obo/UBERON_0005195 deferent duct vein 'deferent duct vein' SubClassOf 'vein' http://purl.obolibrary.org/obo/UBERON_0005192 deferent duct artery 'deferent duct artery' SubClassOf 'systemic artery' http://purl.obolibrary.org/obo/UBERON_0005193 ethmoidal artery 'ethmoidal artery' SubClassOf 'head blood vessel' 'ethmoidal artery' SubClassOf 'systemic artery' http://purl.obolibrary.org/obo/UBERON_3010757 ramus superficial ophthalmic 'ramus superficial ophthalmic' SubClassOf 'anterodorsal lateral line nerve (ADLLN)' http://purl.obolibrary.org/obo/UBERON_3010758 M. coccygeocutaneus 'M. coccygeocutaneus' SubClassOf 'pelvic complex muscle' http://purl.obolibrary.org/obo/UBERON_3010759 ramus buccal 'ramus buccal' SubClassOf 'anterodorsal lateral line nerve (ADLLN)' http://purl.obolibrary.org/obo/UBERON_3010764 laryngeus ventralis 'laryngeus ventralis' SubClassOf 'nerve of head region' http://purl.obolibrary.org/obo/UBERON_3010765 ramus mandibularis externus 'ramus mandibularis externus' SubClassOf 'anteroventral lateral line nerve (AVLLN)' http://purl.obolibrary.org/obo/MONDO_0017713 disorder of fatty acid oxidation and ketogenesis 'disorder of fatty acid oxidation and ketogenesis' SubClassOf 'Disorder of fatty acid oxidation and ketone body metabolism' 'disorder of fatty acid oxidation and ketogenesis' SubClassOf 'inherited fatty acid metabolism disorder' http://purl.obolibrary.org/obo/UBERON_4200195 pleurocentrum 'pleurocentrum' SubClassOf 'bony vertebral centrum' http://purl.obolibrary.org/obo/UBERON_4200196 atlas intercentrum 'atlas intercentrum' SubClassOf 'intercentrum' http://purl.obolibrary.org/obo/UBERON_4200194 intercentrum 'intercentrum' SubClassOf 'bony vertebral centrum' http://purl.obolibrary.org/obo/UBERON_2001991 lateral bone 'lateral bone' SubClassOf 'membrane bone' http://purl.obolibrary.org/obo/UBERON_2001992 branched anal fin ray 'branched anal fin ray' SubClassOf 'anal fin ray' http://purl.obolibrary.org/obo/UBERON_2001993 branched pectoral fin ray 'branched pectoral fin ray' SubClassOf 'pectoral fin ray' http://purl.obolibrary.org/obo/UBERON_2001997 parietal-supraoccipital 'parietal-supraoccipital' SubClassOf 'dermal bone' 'parietal-supraoccipital' SubClassOf 'endochondral bone' http://purl.obolibrary.org/obo/UBERON_2001998 posttemporal-supracleithrum 'posttemporal-supracleithrum' SubClassOf 'dermal bone' 'posttemporal-supracleithrum' SubClassOf 'pectoral girdle bone' http://purl.obolibrary.org/obo/MONDO_0030701 autoimmune cardiomyopathy 'autoimmune cardiomyopathy' SubClassOf 'autoimmune disease of cardiovascular system' 'autoimmune cardiomyopathy' SubClassOf 'cardiomyopathy' 'autoimmune cardiomyopathy' SubClassOf 'autoimmune disease of musculoskeletal system' http://purl.obolibrary.org/obo/MONDO_0003107 infratentorial cancer 'infratentorial cancer' SubClassOf 'brain cancer' http://purl.obolibrary.org/obo/MONDO_0030703 autoimmune vasculitis 'autoimmune vasculitis' SubClassOf 'autoimmune disease of cardiovascular system' 'autoimmune vasculitis' SubClassOf 'hypersensitivity vasculitis' http://purl.obolibrary.org/obo/MONDO_0030700 autoimmune glomerulonephritis 'autoimmune glomerulonephritis' SubClassOf 'autoimmune disease of urogenital tract' 'autoimmune glomerulonephritis' SubClassOf 'glomerulonephritis (disease)' http://purl.obolibrary.org/obo/UBERON_2001983 centrum 1 'centrum 1' SubClassOf 'bony vertebral centrum' http://purl.obolibrary.org/obo/UBERON_2001984 centrum 2 'centrum 2' SubClassOf 'bony vertebral centrum' http://purl.obolibrary.org/obo/UBERON_2001985 centrum 3 'centrum 3' SubClassOf 'bony vertebral centrum' http://purl.obolibrary.org/obo/UBERON_2001986 centrum 4 'centrum 4' SubClassOf 'bony vertebral centrum' http://purl.obolibrary.org/obo/UBERON_2001987 centrum 5 'centrum 5' SubClassOf 'bony vertebral centrum' http://purl.obolibrary.org/obo/UBERON_2001988 centrum 6 'centrum 6' SubClassOf 'bony vertebral centrum' http://purl.obolibrary.org/obo/UBERON_2001989 mandibular-hyoid median cartilage 'mandibular-hyoid median cartilage' SubClassOf 'pharyngeal arch cartilage' http://purl.obolibrary.org/obo/MONDO_0003119 histiocytoid hemangioma 'histiocytoid hemangioma' SubClassOf 'hemangioma' http://purl.obolibrary.org/obo/MONDO_0003112 malignant gastric germ cell tumor 'malignant gastric germ cell tumor' SubClassOf 'gastric cancer' 'malignant gastric germ cell tumor' SubClassOf 'extragonadal germ cell cancer' http://purl.obolibrary.org/obo/MONDO_0003113 extragonadal germ cell cancer 'extragonadal germ cell cancer' SubClassOf 'extragonadal germ cell tumor' 'extragonadal germ cell cancer' SubClassOf 'Malignant Germ Cell Tumor' http://purl.obolibrary.org/obo/UBERON_4200157 metatarsal bone of digit 7 'metatarsal bone of digit 7' SubClassOf 'metatarsal bone' 'metatarsal bone of digit 7' SubClassOf 'metapodium bone 7' http://purl.obolibrary.org/obo/UBERON_4200158 metatarsal bone of digit 8 'metatarsal bone of digit 8' SubClassOf 'metatarsal bone' 'metatarsal bone of digit 8' SubClassOf 'metapodium bone 8' http://purl.obolibrary.org/obo/MONDO_0003110 skin hemangioma 'skin hemangioma' SubClassOf 'hemangioma' 'skin hemangioma' SubClassOf 'benign epithelial skin neoplasm' http://purl.obolibrary.org/obo/MONDO_0003111 gastric neuroendocrine neoplasm 'gastric neuroendocrine neoplasm' SubClassOf 'digestive system neuroendocrine neoplasm' 'gastric neuroendocrine neoplasm' SubClassOf 'gastric neoplasm' 'gastric neuroendocrine neoplasm' SubClassOf 'rare epithelial tumor of stomach' http://purl.obolibrary.org/obo/UBERON_4200155 metapodium bone 7 'metapodium bone 7' SubClassOf 'metapodium bone' http://purl.obolibrary.org/obo/UBERON_4200156 metapodium bone 8 'metapodium bone 8' SubClassOf 'metapodium bone' http://purl.obolibrary.org/obo/UBERON_4200153 metatarsal bone of digit 6 'metatarsal bone of digit 6' SubClassOf 'metapodium bone 6' 'metatarsal bone of digit 6' SubClassOf 'metatarsal bone' http://purl.obolibrary.org/obo/UBERON_4200154 metapodium bone 6 'metapodium bone 6' SubClassOf 'metapodium bone' http://purl.obolibrary.org/obo/UBERON_4200152 intertarsale sesamoid 'intertarsale sesamoid' SubClassOf 'tarsal bone' 'intertarsale sesamoid' SubClassOf 'sesamoid bone of pes' http://purl.obolibrary.org/obo/MONDO_0003122 striatonigral degeneration 'striatonigral degeneration' SubClassOf 'multiple system atrophy' http://purl.obolibrary.org/obo/MONDO_0017769 acquired immunodeficiency 'acquired immunodeficiency' SubClassOf 'immune system disease' 'acquired immunodeficiency' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/UBERON_4200165 basal scute 'basal scute' SubClassOf 'scute' http://purl.obolibrary.org/obo/MONDO_0015119 rare bronchopulmonary tumor 'rare bronchopulmonary tumor' SubClassOf 'respiratory tract neoplasm' 'rare bronchopulmonary tumor' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0015118 rare pulmonary disease 'rare pulmonary disease' SubClassOf 'respiratory system disease' 'rare pulmonary disease' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0015111 gastroesophageal disease 'gastroesophageal disease' SubClassOf 'has modifier' some 'rare' 'gastroesophageal disease' SubClassOf 'digestive system disease' http://purl.obolibrary.org/obo/MONDO_0003142 intracranial primitive neuroectodermal tumor 'intracranial primitive neuroectodermal tumor' SubClassOf 'brain cancer' 'intracranial primitive neuroectodermal tumor' SubClassOf 'central nervous system primitive neuroectodermal neoplasm' http://purl.obolibrary.org/obo/UBERON_4200180 semilunate carpal 'semilunate carpal' SubClassOf 'carpal bone' http://purl.obolibrary.org/obo/MONDO_0015126 polyendocrinopathy 'polyendocrinopathy' SubClassOf 'endocrine system disease' 'polyendocrinopathy' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0015128 primary adrenal insufficiency 'primary adrenal insufficiency' SubClassOf 'adrenal gland disease' http://purl.obolibrary.org/obo/UBERON_4200115 presupracleithrum 'presupracleithrum' SubClassOf 'dermal bone' 'presupracleithrum' SubClassOf 'pectoral girdle bone' http://purl.obolibrary.org/obo/UBERON_4200116 pteroid 'pteroid' SubClassOf 'forelimb bone' http://purl.obolibrary.org/obo/UBERON_4200113 predorsal scute 'predorsal scute' SubClassOf 'fish scute' http://purl.obolibrary.org/obo/MONDO_0003159 vascular hemostatic disease 'vascular hemostatic disease' SubClassOf 'vascular disease' 'vascular hemostatic disease' SubClassOf 'hemorrhagic disease' http://purl.obolibrary.org/obo/UBERON_0007606 ciliated stratified columnar epithelium 'ciliated stratified columnar epithelium' SubClassOf 'stratified columnar epithelium' 'ciliated stratified columnar epithelium' SubClassOf 'ciliated epithelium' http://purl.obolibrary.org/obo/MONDO_0015137 periodic fever syndrome 'periodic fever syndrome' SubClassOf 'autoinflammatory syndrome' http://purl.obolibrary.org/obo/MONDO_0015130 acquired chronic primary adrenal insufficiency 'acquired chronic primary adrenal insufficiency' EquivalentTo 'Genetic chronic primary adrenal insufficiency' and ('has modifier' some 'acquired') 'acquired chronic primary adrenal insufficiency' SubClassOf 'has modifier' some 'acquired' 'acquired chronic primary adrenal insufficiency' SubClassOf 'Genetic chronic primary adrenal insufficiency' http://purl.obolibrary.org/obo/MONDO_0017795 ameloblastoma 'ameloblastoma' SubClassOf 'benign epithelial neoplasm' 'ameloblastoma' SubClassOf 'has modifier' some 'rare' 'ameloblastoma' SubClassOf 'odontogenic neoplasm' 'ameloblastoma' SubClassOf 'musculoskeletal system benign neoplasm' http://purl.obolibrary.org/obo/UBERON_0007603 stratified cuboidal epithelium 'stratified cuboidal epithelium' SubClassOf 'cuboidal epithelium' 'stratified cuboidal epithelium' SubClassOf 'multilaminar epithelium' http://purl.obolibrary.org/obo/UBERON_0007602 stratified columnar epithelium 'stratified columnar epithelium' SubClassOf 'multilaminar epithelium' 'stratified columnar epithelium' SubClassOf 'columnar epithelium' http://purl.obolibrary.org/obo/UBERON_0007601 ciliated epithelium 'ciliated epithelium' SubClassOf 'epithelium' http://purl.obolibrary.org/obo/MONDO_0015133 quantitative and/or qualitative congenital phagocyte defect 'quantitative and/or qualitative congenital phagocyte defect' SubClassOf 'Primary immunodeficiency due to a defect in innate immunity' 'quantitative and/or qualitative congenital phagocyte defect' SubClassOf 'phagocytic cell dysfunction' http://purl.obolibrary.org/obo/MONDO_0003169 diencephalic astrocytomas 'diencephalic astrocytomas' SubClassOf 'brain astrocytoma' 'diencephalic astrocytomas' SubClassOf 'diencephalic cancer' 'diencephalic astrocytomas' SubClassOf 'brain glioma' http://purl.obolibrary.org/obo/MONDO_0015141 disorder of medulla oblongata 'disorder of medulla oblongata' SubClassOf 'brain disease' 'disorder of medulla oblongata' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/UBERON_4200122 pubotibialis 'pubotibialis' SubClassOf 'muscle of pelvis' http://purl.obolibrary.org/obo/UBERON_0007614 extensor digiti minimi muscle 'extensor digiti minimi muscle' SubClassOf 'extrinsic extensor muscle of manus' http://purl.obolibrary.org/obo/UBERON_0007613 extensor digitorum lateralis muscle 'extensor digitorum lateralis muscle' SubClassOf 'extrinsic extensor muscle of manus' http://purl.obolibrary.org/obo/UBERON_4200121 puboischiotibialis muscle 'puboischiotibialis muscle' SubClassOf 'pectoral appendage muscle' http://purl.obolibrary.org/obo/UBERON_0007612 extensor digitorum communis 'extensor digitorum communis' SubClassOf 'extrinsic extensor muscle of manus' http://purl.obolibrary.org/obo/MONDO_0015144 brain inflammatory disease 'brain inflammatory disease' SubClassOf 'rare neuroinflammatory or neuroimmunological disease' 'brain inflammatory disease' SubClassOf 'encephalomyelitis' 'brain inflammatory disease' SubClassOf 'brain disease' http://purl.obolibrary.org/obo/UBERON_4200136 triphycercal tail 'triphycercal tail' SubClassOf 'caudal fin' http://purl.obolibrary.org/obo/MONDO_0003175 salivary gland adenoid cystic carcinoma 'salivary gland adenoid cystic carcinoma' SubClassOf 'salivary gland carcinoma' 'salivary gland adenoid cystic carcinoma' SubClassOf 'adenoid cystic carcinoma' http://purl.obolibrary.org/obo/MONDO_0015158 unexplained periodic fever syndrome 'unexplained periodic fever syndrome' SubClassOf 'periodic fever syndrome' http://purl.obolibrary.org/obo/MONDO_0015157 human herpesvirus 8-related tumor 'human herpesvirus 8-related tumor' SubClassOf 'disease arises from feature' some 'human herpesvirus 8 infection' 'human herpesvirus 8-related tumor' EquivalentTo 'neoplasm' and ('disease arises from feature' some 'human herpesvirus 8 infection') 'human herpesvirus 8-related tumor' SubClassOf 'virus associated tumor' http://purl.obolibrary.org/obo/UBERON_0007625 pigment epithelium of eye 'pigment epithelium of eye' SubClassOf 'sensory organ epithelium' http://purl.obolibrary.org/obo/UBERON_0007622 pecten oculi 'pecten oculi' SubClassOf 'vasculature of eye' http://purl.obolibrary.org/obo/MONDO_0003182 anterior horn disease 'anterior horn disease' SubClassOf 'spinal cord disease' http://purl.obolibrary.org/obo/MONDO_0003190 middle ear carcinoma 'middle ear carcinoma' SubClassOf 'head and neck carcinoma' 'middle ear carcinoma' SubClassOf 'middle ear cancer' http://purl.obolibrary.org/obo/MONDO_0015161 multiple congenital anomalies/dysmorphic syndrome without intellectual disability 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0003196 appendix carcinoma 'appendix carcinoma' SubClassOf 'epithelial tumor of the appendix' 'appendix carcinoma' SubClassOf 'appendix cancer' 'appendix carcinoma' SubClassOf 'cecum carcinoma' http://purl.obolibrary.org/obo/MONDO_0003197 granular cell carcinoma 'granular cell carcinoma' SubClassOf 'nerve sheath neoplasm' 'granular cell carcinoma' SubClassOf 'adenocarcinoma' 'granular cell carcinoma' EquivalentTo 'carcinoma' and 'Granular Cell Tumor' 'granular cell carcinoma' SubClassOf 'peripheral nervous system cancer' http://purl.obolibrary.org/obo/MONDO_0003199 anal carcinoma 'anal carcinoma' SubClassOf 'rectal carcinoma' 'anal carcinoma' SubClassOf 'anus cancer' http://purl.obolibrary.org/obo/MONDO_0003193 bile duct adenocarcinoma 'bile duct adenocarcinoma' SubClassOf 'bile duct carcinoma' 'bile duct adenocarcinoma' SubClassOf 'adenocarcinoma of liver and intrahepatic biliary tract' http://purl.obolibrary.org/obo/MONDO_0003194 hemangioma of lung 'hemangioma of lung' SubClassOf 'lung benign neoplasm' 'hemangioma of lung' SubClassOf 'hemangioma' http://purl.obolibrary.org/obo/MONDO_0015175 autoimmune pancreatitis 'autoimmune pancreatitis' SubClassOf 'autoimmune disease of endocrine system' 'autoimmune pancreatitis' SubClassOf 'IgG4-related disease' 'autoimmune pancreatitis' SubClassOf 'pancreatitis' 'autoimmune pancreatitis' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0015185 intestinal polyposis syndrome 'intestinal polyposis syndrome' SubClassOf 'inherited digestive cancer-predisposing syndrome' http://purl.obolibrary.org/obo/MONDO_0015183 short bowel syndrome 'short bowel syndrome' SubClassOf 'intestinal disease' 'short bowel syndrome' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0015194 sideroblastic anemia 'sideroblastic anemia' SubClassOf 'anemia (disease)' http://purl.obolibrary.org/obo/MONDO_0015193 hydrops fetalis (disease) 'hydrops fetalis (disease)' SubClassOf 'developmental defect during embryogenesis' http://purl.obolibrary.org/obo/UBERON_4200102 median dorsal plate 'median dorsal plate' SubClassOf 'dermal bone' 'median dorsal plate' SubClassOf 'pectoral girdle bone' http://purl.obolibrary.org/obo/UBERON_4200103 median extrascapular 'median extrascapular' SubClassOf 'extrascapula' http://purl.obolibrary.org/obo/UBERON_4200101 m.scapulotriceps 'm.scapulotriceps' SubClassOf 'forelimb muscle' http://purl.obolibrary.org/obo/UBERON_0007685 region of nephron tubule 'region of nephron tubule' SubClassOf 'nephron tubule' http://purl.obolibrary.org/obo/UBERON_0005022 mucosa of nasopharynx 'mucosa of nasopharynx' SubClassOf 'pharyngeal mucosa' 'mucosa of nasopharynx' SubClassOf 'tracheal mucosa' http://purl.obolibrary.org/obo/UBERON_0005023 mucosa of oropharynx 'mucosa of oropharynx' SubClassOf 'pharyngeal mucosa' 'mucosa of oropharynx' SubClassOf 'gastrointestinal system mucosa' http://purl.obolibrary.org/obo/UBERON_0007684 uriniferous tubule 'uriniferous tubule' SubClassOf 'kidney epithelium' 'uriniferous tubule' SubClassOf 'epithelial tube' http://purl.obolibrary.org/obo/UBERON_0005021 mucosa of sphenoidal sinus 'mucosa of sphenoidal sinus' SubClassOf 'mucosa' http://purl.obolibrary.org/obo/UBERON_0007681 facial neural crest 'facial neural crest' SubClassOf 'cranial neural crest' http://purl.obolibrary.org/obo/UBERON_0005028 mucosa of maxillary sinus 'mucosa of maxillary sinus' SubClassOf 'mucosa' http://purl.obolibrary.org/obo/UBERON_0005029 mucosa of lacrimal canaliculus 'mucosa of lacrimal canaliculus' SubClassOf 'mucosa' http://purl.obolibrary.org/obo/UBERON_0005026 mucosa of middle ear 'mucosa of middle ear' SubClassOf 'mucosa' http://purl.obolibrary.org/obo/UBERON_0007689 thyroid diverticulum 'thyroid diverticulum' SubClassOf 'primordium' http://purl.obolibrary.org/obo/UBERON_0005027 mucosa of frontal sinus 'mucosa of frontal sinus' SubClassOf 'mucosa' http://purl.obolibrary.org/obo/UBERON_0005024 mucosa of soft palate 'mucosa of soft palate' SubClassOf 'mucosa of palate' http://purl.obolibrary.org/obo/UBERON_0007687 kidney field 'kidney field' SubClassOf 'anlage' 'kidney field' SubClassOf 'presumptive structure' http://purl.obolibrary.org/obo/UBERON_0005025 mucosa of uvula 'mucosa of uvula' SubClassOf 'mucosa of soft palate' http://purl.obolibrary.org/obo/UBERON_0005033 mucosa of gallbladder 'mucosa of gallbladder' SubClassOf 'mucosa' http://purl.obolibrary.org/obo/UBERON_0005034 mucosa of right main bronchus 'mucosa of right main bronchus' SubClassOf 'mucosa of main bronchus' http://purl.obolibrary.org/obo/UBERON_0005031 mucosa of upper lip 'mucosa of upper lip' SubClassOf 'mucosa of lip' http://purl.obolibrary.org/obo/UBERON_0005032 mucosa of lower lip 'mucosa of lower lip' SubClassOf 'mucosa of lip' http://purl.obolibrary.org/obo/UBERON_0007693 caroticotympanic artery 'caroticotympanic artery' SubClassOf 'systemic artery' 'caroticotympanic artery' SubClassOf 'head blood vessel' http://purl.obolibrary.org/obo/UBERON_0005030 mucosa of paranasal sinus 'mucosa of paranasal sinus' SubClassOf 'mucosa' http://purl.obolibrary.org/obo/UBERON_0007690 early pharyngeal endoderm 'early pharyngeal endoderm' SubClassOf 'endoderm of foregut' http://purl.obolibrary.org/obo/UBERON_0005039 mucosa of bronchiole 'mucosa of bronchiole' SubClassOf 'bronchial mucosa' http://purl.obolibrary.org/obo/UBERON_0005037 mucosa of lobar bronchus 'mucosa of lobar bronchus' SubClassOf 'bronchial mucosa' http://purl.obolibrary.org/obo/UBERON_0005038 mucosa of segmental bronchus 'mucosa of segmental bronchus' SubClassOf 'bronchial mucosa' http://purl.obolibrary.org/obo/UBERON_0005035 mucosa of left main bronchus 'mucosa of left main bronchus' SubClassOf 'mucosa of main bronchus' http://purl.obolibrary.org/obo/UBERON_0005036 mucosa of main bronchus 'mucosa of main bronchus' SubClassOf 'bronchial mucosa' http://purl.obolibrary.org/obo/UBERON_0005044 mucosa of pharyngotympanic tube 'mucosa of pharyngotympanic tube' SubClassOf 'mucosa of middle ear' http://purl.obolibrary.org/obo/UBERON_0005045 mucosa of ethmoidal sinus 'mucosa of ethmoidal sinus' SubClassOf 'mucosa' http://purl.obolibrary.org/obo/UBERON_0005042 inner epithelial layer of tympanic membrane 'inner epithelial layer of tympanic membrane' SubClassOf 'tympanic membrane epithelium' 'inner epithelial layer of tympanic membrane' SubClassOf 'endo-epithelium' http://purl.obolibrary.org/obo/UBERON_0005043 mucosa of nasolacrimal duct 'mucosa of nasolacrimal duct' SubClassOf 'mucosa' http://purl.obolibrary.org/obo/UBERON_0005040 mucosa of terminal bronchiole 'mucosa of terminal bronchiole' SubClassOf 'mucosa of bronchiole' http://purl.obolibrary.org/obo/UBERON_0005041 mucosa of respiratory bronchiole 'mucosa of respiratory bronchiole' SubClassOf 'mucosa of bronchiole' http://purl.obolibrary.org/obo/UBERON_0005048 mucosa of uterine tube 'mucosa of uterine tube' SubClassOf 'reproductive system mucosa' http://purl.obolibrary.org/obo/UBERON_0005049 mucosa of infundibulum of uterine tube 'mucosa of infundibulum of uterine tube' SubClassOf 'reproductive system mucosa' http://purl.obolibrary.org/obo/UBERON_0005046 mucosa of hard palate 'mucosa of hard palate' SubClassOf 'mucosa of palate' http://purl.obolibrary.org/obo/UBERON_0005047 mucosa of vocal fold 'mucosa of vocal fold' SubClassOf 'mucosa of larynx' http://purl.obolibrary.org/obo/UBERON_0005051 mediastinum testis 'mediastinum testis' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0005052 gizzard 'gizzard' SubClassOf 'stomach' http://purl.obolibrary.org/obo/UBERON_0005058 hemolymphoid system gland 'hemolymphoid system gland' SubClassOf 'gland' http://purl.obolibrary.org/obo/UBERON_0007647 ectomeninx 'ectomeninx' SubClassOf 'future meninx' http://purl.obolibrary.org/obo/UBERON_0007646 endomeninx 'endomeninx' SubClassOf 'future meninx' http://purl.obolibrary.org/obo/UBERON_0007645 future meninx 'future meninx' SubClassOf 'presumptive structure' http://purl.obolibrary.org/obo/UBERON_0007644 thoracic lymph node 'thoracic lymph node' SubClassOf 'lymph node' http://purl.obolibrary.org/obo/UBERON_0007643 node of ligamentum arteriosum 'node of ligamentum arteriosum' SubClassOf 'mediastinal lymph node' http://purl.obolibrary.org/obo/UBERON_0007657 anular ligament of radius 'anular ligament of radius' SubClassOf 'ligament' http://purl.obolibrary.org/obo/UBERON_0007654 maturing nephron 'maturing nephron' SubClassOf 'primitive nephron' http://purl.obolibrary.org/obo/UBERON_0007653 capillary loop nephron 'capillary loop nephron' SubClassOf 'primitive nephron' http://purl.obolibrary.org/obo/UBERON_0005000 mucosa of common bile duct 'mucosa of common bile duct' SubClassOf 'mucosa of biliary tree' http://purl.obolibrary.org/obo/UBERON_0005001 mucosa of common hepatic duct 'mucosa of common hepatic duct' SubClassOf 'mucosa of biliary tree' http://purl.obolibrary.org/obo/UBERON_0005008 mucosa of minor calyx 'mucosa of minor calyx' SubClassOf 'mucosa of renal pelvis' http://purl.obolibrary.org/obo/UBERON_0005009 mucosa of trigone of urinary bladder 'mucosa of trigone of urinary bladder' SubClassOf 'mucosa of urinary bladder' http://purl.obolibrary.org/obo/UBERON_0005006 mucosa of renal pelvis 'mucosa of renal pelvis' SubClassOf 'mucosa' http://purl.obolibrary.org/obo/UBERON_0005007 mucosa of major calyx 'mucosa of major calyx' SubClassOf 'mucosa of renal pelvis' http://purl.obolibrary.org/obo/UBERON_0005004 mucosa of right ureter 'mucosa of right ureter' SubClassOf 'mucosa of ureter' http://purl.obolibrary.org/obo/UBERON_0005005 mucosa of left ureter 'mucosa of left ureter' SubClassOf 'mucosa of ureter' http://purl.obolibrary.org/obo/UBERON_0005002 mucosa of right hepatic duct 'mucosa of right hepatic duct' SubClassOf 'mucosa of biliary tree' http://purl.obolibrary.org/obo/UBERON_0005003 mucosa of left hepatic duct 'mucosa of left hepatic duct' SubClassOf 'mucosa of biliary tree' http://purl.obolibrary.org/obo/UBERON_0005011 mucosa of right uterine tube 'mucosa of right uterine tube' SubClassOf 'mucosa of uterine tube' http://purl.obolibrary.org/obo/UBERON_0005012 mucosa of left uterine tube 'mucosa of left uterine tube' SubClassOf 'mucosa of uterine tube' http://purl.obolibrary.org/obo/UBERON_0005010 mucosa of neck of urinary bladder 'mucosa of neck of urinary bladder' SubClassOf 'mucosa of urinary bladder' http://purl.obolibrary.org/obo/UBERON_0005019 mucosa of palate 'mucosa of palate' SubClassOf 'mouth mucosa' http://purl.obolibrary.org/obo/UBERON_0005017 mucosa of lacrimal sac 'mucosa of lacrimal sac' SubClassOf 'mucosa of nasolacrimal duct' http://purl.obolibrary.org/obo/UBERON_0005018 mucosa of nasal septum 'mucosa of nasal septum' SubClassOf 'mucosa' http://purl.obolibrary.org/obo/UBERON_0007679 intersomitic vein 'intersomitic vein' SubClassOf 'intersegmental vessel' 'intersomitic vein' SubClassOf 'vein' http://purl.obolibrary.org/obo/UBERON_0005015 mucosa of prostatic urethra 'mucosa of prostatic urethra' SubClassOf 'mucosa of male urethra' http://purl.obolibrary.org/obo/UBERON_0005016 mucosa of intermediate urethra 'mucosa of intermediate urethra' SubClassOf 'mucosa of urethra' http://purl.obolibrary.org/obo/UBERON_0005013 mucosa of male urethra 'mucosa of male urethra' SubClassOf 'mucosa of urethra' http://purl.obolibrary.org/obo/UBERON_0005014 mucosa of female urethra 'mucosa of female urethra' SubClassOf 'mucosa of urethra' http://purl.obolibrary.org/obo/UBERON_2001930 accessory vomerine tooth plate 'accessory vomerine tooth plate' SubClassOf 'neurocranium bone' 'accessory vomerine tooth plate' SubClassOf 'dermal bone' http://purl.obolibrary.org/obo/UBERON_2001931 infranuchal scute 'infranuchal scute' SubClassOf 'fish scute' http://purl.obolibrary.org/obo/UBERON_2001932 sensory canal tubular ossicle 'sensory canal tubular ossicle' SubClassOf 'dermal bone' http://purl.obolibrary.org/obo/UBERON_2001934 rostral plate 'rostral plate' SubClassOf 'neurocranium bone' 'rostral plate' SubClassOf 'dermal bone' http://purl.obolibrary.org/obo/UBERON_2001939 inter-basipterygium joint 'inter-basipterygium joint' SubClassOf 'skeletal joint' http://purl.obolibrary.org/obo/UBERON_2001922 inter-frontal joint 'inter-frontal joint' SubClassOf 'skeletal joint' http://purl.obolibrary.org/obo/UBERON_0005066 right ventricular trabecular myocardium 'right ventricular trabecular myocardium' SubClassOf 'trabecular layer of ventricle' http://purl.obolibrary.org/obo/UBERON_2001972 intercostal ligament 'intercostal ligament' SubClassOf 'skeletal ligament' http://purl.obolibrary.org/obo/UBERON_0005064 left ventricular trabecular myocardium 'left ventricular trabecular myocardium' SubClassOf 'trabecular layer of ventricle' http://purl.obolibrary.org/obo/UBERON_2001975 suprabranchial artery 'suprabranchial artery' SubClassOf 'artery' http://purl.obolibrary.org/obo/UBERON_0005062 neural fold 'neural fold' SubClassOf 'epithelial fold' 'neural fold' SubClassOf 'embryonic structure' 'neural fold' SubClassOf 'ecto-epithelium' http://purl.obolibrary.org/obo/UBERON_0005061 neural groove 'neural groove' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_2001979 hyomandibula-metapterygoid joint 'hyomandibula-metapterygoid joint' SubClassOf 'skeletal joint' http://purl.obolibrary.org/obo/UBERON_0005069 neural fold hinge point 'neural fold hinge point' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0005080 metanephric ureteric bud 'metanephric ureteric bud' SubClassOf 'ureteric bud' http://purl.obolibrary.org/obo/UBERON_0005081 ureter ureteric bud 'ureter ureteric bud' SubClassOf 'ureteric bud' http://purl.obolibrary.org/obo/UBERON_2001960 ceratobranchial 4 bone distal cartilage 'ceratobranchial 4 bone distal cartilage' SubClassOf 'pharyngeal arch cartilage' http://purl.obolibrary.org/obo/UBERON_2001961 ceratobranchial 5 bone distal cartilage 'ceratobranchial 5 bone distal cartilage' SubClassOf 'pharyngeal arch cartilage' http://purl.obolibrary.org/obo/UBERON_0005078 lamina terminalis of neural tube 'lamina terminalis of neural tube' SubClassOf 'ecto-epithelium' http://purl.obolibrary.org/obo/UBERON_2001962 hypobranchial 1 bone distal cartilage 'hypobranchial 1 bone distal cartilage' SubClassOf 'pharyngeal arch cartilage' http://purl.obolibrary.org/obo/UBERON_2001963 hypobranchial 2 bone distal cartilage 'hypobranchial 2 bone distal cartilage' SubClassOf 'pharyngeal arch cartilage' http://purl.obolibrary.org/obo/UBERON_2001964 epibranchial 3 bone uncinate process cartilage 'epibranchial 3 bone uncinate process cartilage' SubClassOf 'pharyngeal arch cartilage' http://purl.obolibrary.org/obo/UBERON_2001965 epibranchial 4 bone uncinate process cartilage 'epibranchial 4 bone uncinate process cartilage' SubClassOf 'pharyngeal arch cartilage' http://purl.obolibrary.org/obo/UBERON_0005091 left horn of sinus venosus 'left horn of sinus venosus' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0005092 right horn of sinus venosus 'right horn of sinus venosus' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0005088 sebaceous gland placode 'sebaceous gland placode' SubClassOf 'non-neurogenic ectodermal placode' 'sebaceous gland placode' SubClassOf 'presumptive structure' http://purl.obolibrary.org/obo/UBERON_2001950 inter-premaxillary joint 'inter-premaxillary joint' SubClassOf 'skeletal joint' http://purl.obolibrary.org/obo/UBERON_0005089 sweat gland placode 'sweat gland placode' SubClassOf 'non-neurogenic ectodermal placode' 'sweat gland placode' SubClassOf 'presumptive structure' http://purl.obolibrary.org/obo/MONDO_0017814 primary bone lymphoma 'primary bone lymphoma' SubClassOf 'bone cancer' 'primary bone lymphoma' SubClassOf 'primary organ-specific lymphoma' http://purl.obolibrary.org/obo/UBERON_0005086 hair follicle placode 'hair follicle placode' SubClassOf 'skin appendage placode' http://purl.obolibrary.org/obo/UBERON_0005087 tooth placode 'tooth placode' SubClassOf 'non-neurogenic ectodermal placode' 'tooth placode' SubClassOf 'presumptive structure' http://purl.obolibrary.org/obo/UBERON_0005085 ectodermal placode 'ectodermal placode' SubClassOf 'embryonic structure' 'ectodermal placode' SubClassOf 'primordium' http://purl.obolibrary.org/obo/UBERON_2001956 epibranchial 1 bone proximal cartilage 'epibranchial 1 bone proximal cartilage' SubClassOf 'pharyngeal arch cartilage' http://purl.obolibrary.org/obo/UBERON_0005083 nipple sheath 'nipple sheath' SubClassOf 'epidermis' http://purl.obolibrary.org/obo/UBERON_2001957 epibranchial 2 bone proximal cartilage 'epibranchial 2 bone proximal cartilage' SubClassOf 'pharyngeal arch cartilage' http://purl.obolibrary.org/obo/UBERON_2001958 ceratobranchial 3 bone distal cartilage 'ceratobranchial 3 bone distal cartilage' SubClassOf 'pharyngeal arch cartilage' http://purl.obolibrary.org/obo/UBERON_2001959 ceratobranchial 4 bone proximal cartilage 'ceratobranchial 4 bone proximal cartilage' SubClassOf 'pharyngeal arch cartilage' http://purl.obolibrary.org/obo/UBERON_0005099 short descending thin limb 'short descending thin limb' SubClassOf 'nephron epithelium' 'short descending thin limb' SubClassOf 'squamous epithelium' http://purl.obolibrary.org/obo/MONDO_0017824 familial isolated pituitary adenoma 'familial isolated pituitary adenoma' SubClassOf 'Rare genetic neurological disorder' 'familial isolated pituitary adenoma' SubClassOf 'Pituitary Gland Adenoma' 'familial isolated pituitary adenoma' EquivalentTo 'Pituitary Gland Adenoma' and ('has modifier' some 'inherited') 'familial isolated pituitary adenoma' SubClassOf 'hereditary connective tissue disorder' http://purl.obolibrary.org/obo/UBERON_2001940 vertebra 4-vertebra 5 joint 'vertebra 4-vertebra 5 joint' SubClassOf 'skeletal joint' http://purl.obolibrary.org/obo/UBERON_0005097 renal connecting tubule 'renal connecting tubule' SubClassOf 'meso-epithelium' 'renal connecting tubule' SubClassOf 'region of nephron tubule' http://purl.obolibrary.org/obo/UBERON_2001941 orbitosphenoid-lateral ethmoid joint 'orbitosphenoid-lateral ethmoid joint' SubClassOf 'skeletal joint' http://purl.obolibrary.org/obo/UBERON_2001942 autopalatine-maxillary joint 'autopalatine-maxillary joint' SubClassOf 'skeletal joint' http://purl.obolibrary.org/obo/UBERON_0005095 kidney rudiment 'kidney rudiment' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_2001943 metapterygoid-autopalatine ligament 'metapterygoid-autopalatine ligament' SubClassOf 'skeletal ligament' http://purl.obolibrary.org/obo/MONDO_0017820 disease with Cushing syndrome as a major feature 'disease with Cushing syndrome as a major feature' SubClassOf 'disease has major feature' some 'Cushing syndrome' 'disease with Cushing syndrome as a major feature' SubClassOf 'Cushing syndrome' 'disease with Cushing syndrome as a major feature' EquivalentTo 'disease' and ('disease has major feature' some 'Cushing syndrome') http://purl.obolibrary.org/obo/UBERON_2001944 lateral ethmoid-autopalatine ligament 'lateral ethmoid-autopalatine ligament' SubClassOf 'skeletal ligament' http://purl.obolibrary.org/obo/UBERON_0005093 embryonic cement gland 'embryonic cement gland' SubClassOf 'gland' http://purl.obolibrary.org/obo/UBERON_2001945 mesethmoid-premaxillary ligament 'mesethmoid-premaxillary ligament' SubClassOf 'skeletal ligament' http://purl.obolibrary.org/obo/UBERON_2001946 mesethmoid-maxillary ligament 'mesethmoid-maxillary ligament' SubClassOf 'skeletal ligament' http://purl.obolibrary.org/obo/UBERON_2001947 hyomandibular-otic region joint 'hyomandibular-otic region joint' SubClassOf 'skeletal joint' http://purl.obolibrary.org/obo/MONDO_0017609 renal tubular dysgenesis 'renal tubular dysgenesis' SubClassOf 'Genetic non-syndromic renal or urinary tract malformation' http://purl.obolibrary.org/obo/MONDO_0017611 pituitary tumor 'pituitary tumor' SubClassOf 'hypothalamic neoplasm' 'pituitary tumor' SubClassOf 'sella turcica neoplasm' 'pituitary tumor' SubClassOf 'endocrine gland neoplasm' 'pituitary tumor' SubClassOf 'pituitary gland disease' http://purl.obolibrary.org/obo/MONDO_0017634 non-infectious anterior uveitis 'non-infectious anterior uveitis' SubClassOf 'anterior uveitis' http://purl.obolibrary.org/obo/MONDO_0017635 parkinsonian syndrome due to neurodegenerative disease 'parkinsonian syndrome due to neurodegenerative disease' EquivalentTo 'parkinsonian disorder' and ('disease arises from feature' some 'neurodegenerative disease') 'parkinsonian syndrome due to neurodegenerative disease' SubClassOf 'disease arises from feature' some 'neurodegenerative disease' 'parkinsonian syndrome due to neurodegenerative disease' SubClassOf 'parkinsonian disorder' http://purl.obolibrary.org/obo/MONDO_0017631 rare tumor of gallbladder and extrahepatic biliary tract 'rare tumor of gallbladder and extrahepatic biliary tract' SubClassOf 'has modifier' some 'rare' 'rare tumor of gallbladder and extrahepatic biliary tract' SubClassOf 'extrahepatic bile duct neoplasm' http://purl.obolibrary.org/obo/MONDO_0030603 Klebsiella infectious disease 'Klebsiella infectious disease' SubClassOf 'bacterial disease' http://purl.obolibrary.org/obo/MONDO_0003008 hereditary renal cell carcinoma 'hereditary renal cell carcinoma' EquivalentTo 'renal cell carcinoma' and ('has modifier' some 'inherited') 'hereditary renal cell carcinoma' SubClassOf 'renal cell adenocarcinoma' 'hereditary renal cell carcinoma' SubClassOf 'Genetic renal tumor' http://purl.obolibrary.org/obo/MONDO_0003002 dysgerminoma (disease) 'dysgerminoma (disease)' SubClassOf 'germinomatous germ cell tumor' 'dysgerminoma (disease)' SubClassOf 'Malignant Germ Cell Tumor' http://purl.obolibrary.org/obo/MONDO_0003005 macular retinal edema 'macular retinal edema' SubClassOf 'macular degeneration' 'macular retinal edema' SubClassOf 'retinal edema' http://purl.obolibrary.org/obo/MONDO_0003000 central nervous system germ cell tumor 'central nervous system germ cell tumor' SubClassOf 'Central Nervous System Neoplasm' 'central nervous system germ cell tumor' SubClassOf 'extragonadal germ cell tumor' http://purl.obolibrary.org/obo/MONDO_0003001 seminoma 'seminoma' SubClassOf 'germinomatous germ cell tumor' 'seminoma' SubClassOf 'Malignant Germ Cell Tumor' http://purl.obolibrary.org/obo/MONDO_0017641 miscellaneous movement disorder due to neurodegenerative disease 'miscellaneous movement disorder due to neurodegenerative disease' SubClassOf 'disease arises from feature' some 'neurodegenerative disease' 'miscellaneous movement disorder due to neurodegenerative disease' SubClassOf 'has modifier' some 'rare' 'miscellaneous movement disorder due to neurodegenerative disease' SubClassOf 'movement disorder' http://purl.obolibrary.org/obo/MONDO_0017658 hyperekplexia 'hyperekplexia' SubClassOf 'has modifier' some 'rare' 'hyperekplexia' SubClassOf 'movement disorder' http://purl.obolibrary.org/obo/MONDO_0017652 rare disease with myoclonus as a major feature 'rare disease with myoclonus as a major feature' SubClassOf 'Rare genetic disease with myoclonus as a major feature' 'rare disease with myoclonus as a major feature' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/UBERON_4200238 coronoid fang 'coronoid fang' SubClassOf 'coronoid tooth' http://purl.obolibrary.org/obo/UBERON_4200236 anterior coronoid bone 'anterior coronoid bone' SubClassOf 'coronoid bone' http://purl.obolibrary.org/obo/MONDO_0003036 mucoepidermoid carcinoma 'mucoepidermoid carcinoma' SubClassOf 'mucinous carcinoma' 'mucoepidermoid carcinoma' SubClassOf 'mucoepidermoid tumor' http://purl.obolibrary.org/obo/UBERON_4200237 posterior coronoid bone 'posterior coronoid bone' SubClassOf 'coronoid bone' http://purl.obolibrary.org/obo/MONDO_0003037 hypotrichosis 'hypotrichosis' SubClassOf 'disease of pilosebaceous unit' http://purl.obolibrary.org/obo/UBERON_4200234 precoronoid bone 'precoronoid bone' SubClassOf 'coronoid bone' http://purl.obolibrary.org/obo/UBERON_4200235 postcoronoid bone 'postcoronoid bone' SubClassOf 'coronoid bone' http://purl.obolibrary.org/obo/MONDO_0003046 anus neoplasm 'anus neoplasm' SubClassOf 'rectal neoplasm' 'anus neoplasm' SubClassOf 'anus disease' http://purl.obolibrary.org/obo/UBERON_4200247 lateral parasymphysial foramen 'lateral parasymphysial foramen' SubClassOf 'parasymphysial plate' http://purl.obolibrary.org/obo/UBERON_4200245 parasymphysial plate 'parasymphysial plate' SubClassOf 'bone of lower jaw' http://purl.obolibrary.org/obo/UBERON_4200246 mesial parasymphysial foramen 'mesial parasymphysial foramen' SubClassOf 'parasymphysial plate' http://purl.obolibrary.org/obo/UBERON_4200243 surangular pit line 'surangular pit line' SubClassOf 'surangular bone' http://purl.obolibrary.org/obo/UBERON_4200244 anterior supraorbital bone 'anterior supraorbital bone' SubClassOf 'supraorbital bone' http://purl.obolibrary.org/obo/MONDO_0003059 bile duct cancer 'bile duct cancer' SubClassOf 'biliary tract cancer' 'bile duct cancer' SubClassOf 'bile duct neoplasm' http://purl.obolibrary.org/obo/UBERON_0007503 epithelial vesicle 'epithelial vesicle' SubClassOf 'epithelium' http://purl.obolibrary.org/obo/UBERON_0007502 epithelial plexus 'epithelial plexus' SubClassOf 'epithelial tube' http://purl.obolibrary.org/obo/UBERON_0007501 arborizing epithelial duct system 'arborizing epithelial duct system' SubClassOf 'epithelial sac' http://purl.obolibrary.org/obo/UBERON_0007500 epithelial tube open at both ends 'epithelial tube open at both ends' SubClassOf 'epithelial tube' http://purl.obolibrary.org/obo/MONDO_0003060 biliary tract cancer 'biliary tract cancer' SubClassOf 'biliary tract neoplasm' 'biliary tract cancer' SubClassOf 'liver cancer' http://purl.obolibrary.org/obo/MONDO_0003061 benign muscle neoplasm 'benign muscle neoplasm' SubClassOf 'musculoskeletal system benign neoplasm' 'benign muscle neoplasm' SubClassOf 'myomatous neoplasm' http://purl.obolibrary.org/obo/MONDO_0003062 intestinal benign neoplasm 'intestinal benign neoplasm' SubClassOf 'benign digestive system neoplasm' 'intestinal benign neoplasm' SubClassOf 'intestinal neoplasm' http://purl.obolibrary.org/obo/MONDO_0003079 mastocytoma 'mastocytoma' SubClassOf 'Mast Cell Neoplasm' http://purl.obolibrary.org/obo/MONDO_0003081 thalamic disease 'thalamic disease' SubClassOf 'brain disease' http://purl.obolibrary.org/obo/MONDO_0015070 laryngeal neuroendocrine neoplasm 'laryngeal neuroendocrine neoplasm' SubClassOf 'neuroendocrine tumor with other location' 'laryngeal neuroendocrine neoplasm' SubClassOf 'rare otorhinolaryngologic tumor' 'laryngeal neuroendocrine neoplasm' SubClassOf 'laryngeal neoplasm' http://purl.obolibrary.org/obo/MONDO_0003090 extrahepatic bile duct carcinoma 'extrahepatic bile duct carcinoma' SubClassOf 'malignant tumor of extrahepatic bile duct' 'extrahepatic bile duct carcinoma' SubClassOf 'bile duct carcinoma' http://purl.obolibrary.org/obo/MONDO_0015064 jejunal neuroendocrine tumor, well differentiated, low or intermediate grade 'jejunal neuroendocrine tumor, well differentiated, low or intermediate grade' SubClassOf 'jejunal neoplasm' 'jejunal neuroendocrine tumor, well differentiated, low or intermediate grade' SubClassOf 'small intestine neuroendocrine tumor, well differentiated, low or intermediate grade' http://purl.obolibrary.org/obo/MONDO_0015063 duodenal neuroendocrine tumor, well differentiated, low or intermediate grade 'duodenal neuroendocrine tumor, well differentiated, low or intermediate grade' SubClassOf 'small intestine neuroendocrine tumor, well differentiated, low or intermediate grade' 'duodenal neuroendocrine tumor, well differentiated, low or intermediate grade' SubClassOf 'duodenal neuroendocrine neoplasm' http://purl.obolibrary.org/obo/MONDO_0015062 gastric neuroendocrine tumor, well differentiated, low or intermediate grade 'gastric neuroendocrine tumor, well differentiated, low or intermediate grade' SubClassOf 'small intestine neuroendocrine tumor, well differentiated, low or intermediate grade' 'gastric neuroendocrine tumor, well differentiated, low or intermediate grade' SubClassOf 'gastric neuroendocrine neoplasm' http://purl.obolibrary.org/obo/MONDO_0015067 neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor 'neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor' SubClassOf 'colon neuroendocrine neoplasm' 'neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor' SubClassOf 'has modifier' some 'rare' 'neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor' SubClassOf 'digestive system neuroendocrine tumor, grade 1/2' 'neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor' SubClassOf 'epithelial tumor of colon' http://purl.obolibrary.org/obo/MONDO_0015066 neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade 'neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade' SubClassOf 'neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor' 'neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade' SubClassOf 'epithelial tumor of the appendix' 'neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade' SubClassOf 'appendix neuroendocrine neoplasm' http://purl.obolibrary.org/obo/MONDO_0015065 ileal neuroendocrine tumor, well differentiated, low or intermediate grade 'ileal neuroendocrine tumor, well differentiated, low or intermediate grade' SubClassOf 'ileal neoplasm' 'ileal neuroendocrine tumor, well differentiated, low or intermediate grade' SubClassOf 'small intestine neuroendocrine tumor, well differentiated, low or intermediate grade' http://purl.obolibrary.org/obo/UBERON_4200218 musculotendinous bundle 'musculotendinous bundle' SubClassOf 'skeletal muscle tissue' http://purl.obolibrary.org/obo/UBERON_4200219 middle phalanx of manual digit 1 'middle phalanx of manual digit 1' SubClassOf 'middle phalanx of manus' 'middle phalanx of manual digit 1' SubClassOf 'manual digit 1 phalanx' http://purl.obolibrary.org/obo/MONDO_0015081 neuroendocrine tumor with other location 'neuroendocrine tumor with other location' SubClassOf 'neuroendocrine neoplasm' http://purl.obolibrary.org/obo/UBERON_4200215 suture 'suture' SubClassOf 'fibrous joint' 'synchondrosis' DisjointWith 'suture' http://purl.obolibrary.org/obo/MONDO_0003097 childhood mediastinal neurogenic neoplasm 'childhood mediastinal neurogenic neoplasm' SubClassOf 'childhood neoplasm' 'childhood mediastinal neurogenic neoplasm' EquivalentTo 'mediastinal neural neoplasm' and 'childhood neoplasm' 'childhood mediastinal neurogenic neoplasm' SubClassOf 'mediastinal neural neoplasm' http://purl.obolibrary.org/obo/MONDO_0003098 mediastinal neural neoplasm 'mediastinal neural neoplasm' SubClassOf 'peripheral nervous system neoplasm' 'mediastinal neural neoplasm' SubClassOf 'neoplasm of mediastinum' http://purl.obolibrary.org/obo/MONDO_0015075 thyroid gland carcinoma 'thyroid gland carcinoma' SubClassOf 'carcinoma' 'thyroid gland carcinoma' SubClassOf 'thyroid cancer' 'thyroid gland carcinoma' SubClassOf 'thyroid carcinoma' http://purl.obolibrary.org/obo/MONDO_0015074 thyroid tumor 'thyroid tumor' SubClassOf 'endocrine gland neoplasm' 'thyroid tumor' SubClassOf 'thyroid neoplasm' 'thyroid tumor' SubClassOf 'thyroid disease' http://purl.obolibrary.org/obo/MONDO_0015073 gallbladder neuroendocrine tumor, grade 1/2 'gallbladder neuroendocrine tumor, grade 1/2' SubClassOf 'rare tumor of gallbladder and extrahepatic biliary tract' 'gallbladder neuroendocrine tumor, grade 1/2' SubClassOf 'digestive system neuroendocrine tumor, grade 1/2' 'gallbladder neuroendocrine tumor, grade 1/2' EquivalentTo 'gallbladder neuroendocrine neoplasm' and ('has modifier' some 'tumor grade 1 or 2, general grading system') 'gallbladder neuroendocrine tumor, grade 1/2' SubClassOf 'neuroendocrine tumor with other location' 'gallbladder neuroendocrine tumor, grade 1/2' SubClassOf 'gallbladder neuroendocrine neoplasm' http://purl.obolibrary.org/obo/MONDO_0015078 gastroenteropancreatic neuroendocrine neoplasm 'gastroenteropancreatic neuroendocrine neoplasm' SubClassOf 'neuroendocrine neoplasm' 'gastroenteropancreatic neuroendocrine neoplasm' SubClassOf 'digestive system neoplasm' http://purl.obolibrary.org/obo/MONDO_0015077 adrenal/paraganglial tumor 'adrenal/paraganglial tumor' SubClassOf 'adrenal gland neoplasm' http://purl.obolibrary.org/obo/UBERON_4200225 scapulohumeralis muscle 'scapulohumeralis muscle' SubClassOf 'muscle of shoulder' http://purl.obolibrary.org/obo/UBERON_4200220 iliac ramus 'iliac ramus' SubClassOf 'ilium' http://purl.obolibrary.org/obo/UBERON_3010576 prenasal (amphibians) 'prenasal (amphibians)' SubClassOf 'dermal bone' http://purl.obolibrary.org/obo/UBERON_3010585 basibranchial II 'basibranchial II' SubClassOf 'basibranchial bone' http://purl.obolibrary.org/obo/UBERON_3010587 hyoid arch neural crest 'hyoid arch neural crest' SubClassOf 'neural crest' http://purl.obolibrary.org/obo/UBERON_0007573 migrating epithelium 'migrating epithelium' SubClassOf 'epithelium' http://purl.obolibrary.org/obo/UBERON_3010583 basibranchial I 'basibranchial I' SubClassOf 'basibranchial bone' http://purl.obolibrary.org/obo/UBERON_3010558 quadrato-ethmoid ligament 'quadrato-ethmoid ligament' SubClassOf 'mandibular muscle' http://purl.obolibrary.org/obo/UBERON_0007589 ciliated columnar oviduct epithelium 'ciliated columnar oviduct epithelium' SubClassOf 'ciliated columnar epithelium' 'ciliated columnar oviduct epithelium' SubClassOf 'oviduct epithelium' http://purl.obolibrary.org/obo/UBERON_3010565 pila preoptica 'pila preoptica' SubClassOf 'cartilage element of chondrocranium' http://purl.obolibrary.org/obo/UBERON_0007592 ciliated columnar epithelium 'ciliated columnar epithelium' SubClassOf 'simple columnar epithelium' 'ciliated columnar epithelium' SubClassOf 'ciliated epithelium' http://purl.obolibrary.org/obo/UBERON_0007590 cuboidal oviduct epithelium 'cuboidal oviduct epithelium' SubClassOf 'cuboidal epithelium' 'cuboidal oviduct epithelium' SubClassOf 'oviduct epithelium' http://purl.obolibrary.org/obo/UBERON_0020550 auricular blood vessel 'auricular blood vessel' SubClassOf 'blood vessel' http://purl.obolibrary.org/obo/UBERON_3010599 stratum spongiosum 'stratum spongiosum' SubClassOf 'dermis' http://purl.obolibrary.org/obo/UBERON_3010590 amphibian cloacal gland 'amphibian cloacal gland' SubClassOf 'cloacal gland' http://purl.obolibrary.org/obo/UBERON_3010500 gastrico-linealis 'gastrico-linealis' SubClassOf 'arterial blood vessel' http://purl.obolibrary.org/obo/UBERON_3010501 duodeno-pancreatic artery 'duodeno-pancreatic artery' SubClassOf 'artery' http://purl.obolibrary.org/obo/UBERON_3010502 duodeno-hepatic artery 'duodeno-hepatic artery' SubClassOf 'artery' http://purl.obolibrary.org/obo/UBERON_3010503 oviduct artery 'oviduct artery' SubClassOf 'systemic artery' http://purl.obolibrary.org/obo/UBERON_3010506 postcaval vein 'postcaval vein' SubClassOf 'vein' http://purl.obolibrary.org/obo/UBERON_3010507 precaval vein 'precaval vein' SubClassOf 'vein' http://purl.obolibrary.org/obo/UBERON_3010519 Jacobson's vein 'Jacobson's vein' SubClassOf 'vein' http://purl.obolibrary.org/obo/UBERON_3010515 lateral vein 'lateral vein' SubClassOf 'vein' http://purl.obolibrary.org/obo/UBERON_3010516 cutaneus magnus 'cutaneus magnus' SubClassOf 'vein' http://purl.obolibrary.org/obo/UBERON_3010517 ventral abdominal vein 'ventral abdominal vein' SubClassOf 'vein' http://purl.obolibrary.org/obo/UBERON_3010523 M. plantaris longus 'M. plantaris longus' SubClassOf 'pelvic complex muscle' http://purl.obolibrary.org/obo/UBERON_3010520 oviducal vein 'oviducal vein' SubClassOf 'vein' http://purl.obolibrary.org/obo/MONDO_0017705 congenital pulmonary venous return anomaly 'congenital pulmonary venous return anomaly' SubClassOf 'congenital pulmonary veins anomaly' http://purl.obolibrary.org/obo/UBERON_3010700 levator mandibulae externus 'levator mandibulae externus' SubClassOf 'mandibular muscle' http://purl.obolibrary.org/obo/UBERON_3010701 m. latissimus dorsi 'm. latissimus dorsi' SubClassOf 'pectoral complex muscle' http://purl.obolibrary.org/obo/UBERON_3010707 m. dorsalis scapulae 'm. dorsalis scapulae' SubClassOf 'pectoral complex muscle' http://purl.obolibrary.org/obo/UBERON_3010708 levator mandibulae articularis 'levator mandibulae articularis' SubClassOf 'mandibular muscle' http://purl.obolibrary.org/obo/UBERON_3010709 levator mandibulae lateralis 'levator mandibulae lateralis' SubClassOf 'mandibular muscle' http://purl.obolibrary.org/obo/UBERON_3010704 levator mandibulae longus 'levator mandibulae longus' SubClassOf 'mandibular muscle' http://purl.obolibrary.org/obo/MONDO_0030502 tetrasomy 'tetrasomy' SubClassOf 'Chromosomal anomaly' http://purl.obolibrary.org/obo/MONDO_0017582 pituitary adenocarcinoma (disease) 'pituitary adenocarcinoma (disease)' SubClassOf 'bone carcinoma' 'pituitary adenocarcinoma (disease)' SubClassOf 'pituitary cancer' 'pituitary adenocarcinoma (disease)' SubClassOf 'head and neck carcinoma' 'pituitary adenocarcinoma (disease)' SubClassOf 'adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0017595 aggressive B-cell non-Hodgkin lymphoma 'aggressive B-cell non-Hodgkin lymphoma' SubClassOf 'B-cell non-Hodgkins lymphoma' http://purl.obolibrary.org/obo/MONDO_0017594 indolent B-cell non-Hodgkin lymphoma 'indolent B-cell non-Hodgkin lymphoma' SubClassOf 'B-cell non-Hodgkins lymphoma' http://purl.obolibrary.org/obo/UBERON_3010698 m. serratus medius 'm. serratus medius' SubClassOf 'pectoral complex muscle' http://purl.obolibrary.org/obo/UBERON_3010699 m. serratus inferior 'm. serratus inferior' SubClassOf 'pectoral complex muscle' http://purl.obolibrary.org/obo/UBERON_3010694 m. rhomboideus posterior 'm. rhomboideus posterior' SubClassOf 'pectoral complex muscle' http://purl.obolibrary.org/obo/UBERON_3010695 m. serratus superior 'm. serratus superior' SubClassOf 'pectoral complex muscle' http://purl.obolibrary.org/obo/UBERON_3010690 fetal tooth 'fetal tooth' SubClassOf 'deciduous tooth' http://purl.obolibrary.org/obo/UBERON_3010691 m. opercularis 'm. opercularis' SubClassOf 'pectoral complex muscle' http://purl.obolibrary.org/obo/UBERON_3010692 m. cucullaris 'm. cucullaris' SubClassOf 'pectoral complex muscle' http://purl.obolibrary.org/obo/UBERON_3010673 m. rhomboideus anterior 'm. rhomboideus anterior' SubClassOf 'pectoral complex muscle' http://purl.obolibrary.org/obo/UBERON_3010675 bony nodule of terminal phalanx of hind digit 'bony nodule of terminal phalanx of hind digit' SubClassOf 'pedal digit bone' http://purl.obolibrary.org/obo/UBERON_3010618 constrictor laryngis externus 'constrictor laryngis externus' SubClassOf 'hyobranchial muscle' http://purl.obolibrary.org/obo/UBERON_3010621 constrictor laryngis anterior 'constrictor laryngis anterior' SubClassOf 'hyobranchial muscle' http://purl.obolibrary.org/obo/UBERON_3010624 subarticular sesamoid 'subarticular sesamoid' SubClassOf 'digitopodium bone' 'subarticular sesamoid' SubClassOf 'sesamoid bone' http://purl.obolibrary.org/obo/UBERON_3010620 dilatator laryngis 'dilatator laryngis' SubClassOf 'hyobranchial muscle' http://purl.obolibrary.org/obo/UBERON_3010602 granular gland 'granular gland' SubClassOf 'gland' 'mucous gland' DisjointWith 'granular gland' http://purl.obolibrary.org/obo/UBERON_3010654 rectus cervicis 'rectus cervicis' SubClassOf 'hyobranchial muscle' http://purl.obolibrary.org/obo/UBERON_3010657 subhyoideus 'subhyoideus' SubClassOf 'hyobranchial muscle' http://purl.obolibrary.org/obo/UBERON_3010650 cephalodorsosubpharyngeus 'cephalodorsosubpharyngeus' SubClassOf 'hyobranchial muscle' http://purl.obolibrary.org/obo/UBERON_3010651 levator bulbi 'levator bulbi' SubClassOf 'hyobranchial muscle' http://purl.obolibrary.org/obo/UBERON_3010652 ramules nasalis lateralis 'ramules nasalis lateralis' SubClassOf 'nerve of head region' http://purl.obolibrary.org/obo/UBERON_3010659 subarcualis rectus I 'subarcualis rectus I' SubClassOf 'hyobranchial muscle' http://purl.obolibrary.org/obo/UBERON_3010665 ramule palatinus 'ramule palatinus' SubClassOf 'ramus nasalis internus' http://purl.obolibrary.org/obo/UBERON_3010667 m. intertransversarius capitis inferior 'm. intertransversarius capitis inferior' SubClassOf 'musculature of neck' http://purl.obolibrary.org/obo/UBERON_3010668 ramules cutaneous 'ramules cutaneous' SubClassOf 'nerve of head region' http://purl.obolibrary.org/obo/UBERON_3010661 ramus nasalis internus 'ramus nasalis internus' SubClassOf 'ophthalmic nerve' http://purl.obolibrary.org/obo/UBERON_3010664 m. intertransversarius capitus superior 'm. intertransversarius capitus superior' SubClassOf 'musculature of neck' http://purl.obolibrary.org/obo/UBERON_3010669 trunk maxillary-mandibularis 'trunk maxillary-mandibularis' SubClassOf 'nerve of head region' http://purl.obolibrary.org/obo/UBERON_0007499 epithelial sac 'epithelial sac' SubClassOf 'epithelial tube' http://purl.obolibrary.org/obo/UBERON_2001650 pharyngobranchial 2 tooth plate 'pharyngobranchial 2 tooth plate' SubClassOf 'pharyngobranchial tooth plate' http://purl.obolibrary.org/obo/UBERON_2001651 pharyngobranchial 2 tooth 'pharyngobranchial 2 tooth' SubClassOf 'tooth' http://purl.obolibrary.org/obo/UBERON_2001652 pharyngobranchial 3 tooth plate 'pharyngobranchial 3 tooth plate' SubClassOf 'pharyngobranchial tooth plate' http://purl.obolibrary.org/obo/UBERON_2001653 pharyngobranchial 3 tooth 'pharyngobranchial 3 tooth' SubClassOf 'tooth' http://purl.obolibrary.org/obo/UBERON_2001654 upper pharyngeal 4 tooth plate 'upper pharyngeal 4 tooth plate' SubClassOf 'pharyngeal tooth plate' http://purl.obolibrary.org/obo/UBERON_2001655 upper pharyngeal 4 tooth 'upper pharyngeal 4 tooth' SubClassOf 'tooth' http://purl.obolibrary.org/obo/UBERON_2001656 upper pharyngeal 5 tooth plate 'upper pharyngeal 5 tooth plate' SubClassOf 'pharyngeal tooth plate' http://purl.obolibrary.org/obo/UBERON_2001657 upper pharyngeal 5 tooth 'upper pharyngeal 5 tooth' SubClassOf 'tooth' http://purl.obolibrary.org/obo/UBERON_2001658 upper pharyngeal tooth plate 'upper pharyngeal tooth plate' SubClassOf 'pharyngeal tooth plate' http://purl.obolibrary.org/obo/UBERON_2001659 upper pharyngeal tooth 'upper pharyngeal tooth' SubClassOf 'tooth' http://purl.obolibrary.org/obo/UBERON_2001640 notochordal ossification 'notochordal ossification' SubClassOf 'perichordal bone' http://purl.obolibrary.org/obo/UBERON_2001647 pharyngeal tooth plate 'pharyngeal tooth plate' SubClassOf 'dermal bone' http://purl.obolibrary.org/obo/UBERON_2001648 basihyal tooth plate 'basihyal tooth plate' SubClassOf 'pharyngeal tooth plate' http://purl.obolibrary.org/obo/UBERON_2001649 basihyal tooth 'basihyal tooth' SubClassOf 'tooth' http://purl.obolibrary.org/obo/UBERON_2001632 ectopterygoid tooth 'ectopterygoid tooth' SubClassOf 'palatal tooth' http://purl.obolibrary.org/obo/UBERON_2001633 entopterygoid tooth 'entopterygoid tooth' SubClassOf 'tooth' http://purl.obolibrary.org/obo/UBERON_2001634 pharyngobranchial 1 cartilage 'pharyngobranchial 1 cartilage' SubClassOf 'pharyngobranchial cartilage' http://purl.obolibrary.org/obo/UBERON_2001635 pharyngobranchial 1 bone 'pharyngobranchial 1 bone' SubClassOf 'pharyngobranchial bone' http://purl.obolibrary.org/obo/UBERON_2001636 pharyngobranchial 4 bone 'pharyngobranchial 4 bone' SubClassOf 'pharyngobranchial bone' http://purl.obolibrary.org/obo/UBERON_2001626 premaxillary tooth 'premaxillary tooth' SubClassOf 'tooth of upper jaw' http://purl.obolibrary.org/obo/UBERON_2001690 anterior cartilage of palatine 'anterior cartilage of palatine' SubClassOf 'pharyngeal arch cartilage' http://purl.obolibrary.org/obo/UBERON_2001691 posterior cartilage of palatine 'posterior cartilage of palatine' SubClassOf 'pharyngeal arch cartilage' http://purl.obolibrary.org/obo/UBERON_2001692 median premaxilla 'median premaxilla' SubClassOf 'dermal bone' 'median premaxilla' SubClassOf 'bone of upper jaw' http://purl.obolibrary.org/obo/UBERON_2001693 protractor operculi 'protractor operculi' SubClassOf 'cranial muscle' http://purl.obolibrary.org/obo/UBERON_2001694 humerovertebral ligament 'humerovertebral ligament' SubClassOf 'skeletal ligament' http://purl.obolibrary.org/obo/UBERON_2001695 mediopharyngobranchial 'mediopharyngobranchial' SubClassOf 'pharyngeal arch cartilage' http://purl.obolibrary.org/obo/UBERON_2001696 gongyloid cartilage 'gongyloid cartilage' SubClassOf 'pharyngeal arch cartilage' http://purl.obolibrary.org/obo/UBERON_2001697 transverse radial 'transverse radial' SubClassOf 'endochondral bone' http://purl.obolibrary.org/obo/UBERON_2001698 anal-fin stay 'anal-fin stay' SubClassOf 'fin bone' 'anal-fin stay' SubClassOf 'endochondral bone' http://purl.obolibrary.org/obo/UBERON_2001699 dorsal-fin stay 'dorsal-fin stay' SubClassOf 'endochondral bone' 'dorsal-fin stay' SubClassOf 'bone of dorsum' 'dorsal-fin stay' SubClassOf 'fin bone' http://purl.obolibrary.org/obo/UBERON_2001680 mesethmoid-vomer joint 'mesethmoid-vomer joint' SubClassOf 'skeletal joint' http://purl.obolibrary.org/obo/UBERON_2001683 transcapular ligament 'transcapular ligament' SubClassOf 'skeletal ligament' http://purl.obolibrary.org/obo/UBERON_2001684 ossified transcapular ligament 'ossified transcapular ligament' SubClassOf 'membrane bone' http://purl.obolibrary.org/obo/UBERON_2001685 lateral ethmoid-ectopterygoid ligament 'lateral ethmoid-ectopterygoid ligament' SubClassOf 'skeletal ligament' http://purl.obolibrary.org/obo/UBERON_2001687 interopercular-mandibular ligament 'interopercular-mandibular ligament' SubClassOf 'skeletal ligament' http://purl.obolibrary.org/obo/UBERON_2001688 palatine cartilage 'palatine cartilage' SubClassOf 'pharyngeal arch cartilage' http://purl.obolibrary.org/obo/UBERON_2001689 pterygoquadrate cartilage 'pterygoquadrate cartilage' SubClassOf 'pharyngeal arch cartilage' http://purl.obolibrary.org/obo/UBERON_2001671 anal fin radial bone 'anal fin radial bone' SubClassOf 'median fin radial bone' http://purl.obolibrary.org/obo/UBERON_2001672 dorsal fin radial bone 'dorsal fin radial bone' SubClassOf 'median fin radial bone' 'dorsal fin radial bone' SubClassOf 'bone of dorsum' http://purl.obolibrary.org/obo/UBERON_2001674 infraorbital 6 'infraorbital 6' SubClassOf 'infraorbital' http://purl.obolibrary.org/obo/UBERON_2001676 mesethmoid-premaxillary joint 'mesethmoid-premaxillary joint' SubClassOf 'inter-premaxillary joint' http://purl.obolibrary.org/obo/UBERON_2001677 mesethmoid-nasal joint 'mesethmoid-nasal joint' SubClassOf 'skeletal joint' http://purl.obolibrary.org/obo/UBERON_2001678 mesethmoid-frontal joint 'mesethmoid-frontal joint' SubClassOf 'skeletal joint' http://purl.obolibrary.org/obo/UBERON_2001679 mesethmoid-lateral ethmoid joint 'mesethmoid-lateral ethmoid joint' SubClassOf 'skeletal joint' http://purl.obolibrary.org/obo/UBERON_2001660 basibranchial tooth 'basibranchial tooth' SubClassOf 'tooth' http://purl.obolibrary.org/obo/UBERON_2001661 basibranchial tooth plate 'basibranchial tooth plate' SubClassOf 'pharyngeal tooth plate' http://purl.obolibrary.org/obo/UBERON_2001662 basibranchial 4 tooth plate 'basibranchial 4 tooth plate' SubClassOf 'pharyngeal tooth plate' http://purl.obolibrary.org/obo/UBERON_2001663 basibranchial 4 tooth 'basibranchial 4 tooth' SubClassOf 'tooth' http://purl.obolibrary.org/obo/UBERON_2001664 basibranchial 2 tooth plate 'basibranchial 2 tooth plate' SubClassOf 'pharyngeal tooth plate' http://purl.obolibrary.org/obo/UBERON_2001665 basibranchial 2 tooth 'basibranchial 2 tooth' SubClassOf 'tooth' http://purl.obolibrary.org/obo/UBERON_2001666 rudimentary neural arch 'rudimentary neural arch' SubClassOf 'neural arch' http://purl.obolibrary.org/obo/UBERON_3000141 endolymphatic system 'endolymphatic system' SubClassOf 'anatomical system' http://purl.obolibrary.org/obo/UBERON_0005565 facio-acoustic neural crest 'facio-acoustic neural crest' SubClassOf 'mesenchyme derived from head neural crest' 'facio-acoustic neural crest' SubClassOf 'cranial neural crest' http://purl.obolibrary.org/obo/UBERON_0005500 rhombomere floor plate 'rhombomere floor plate' SubClassOf 'floor plate' http://purl.obolibrary.org/obo/MONDO_0001909 renal tubular acidosis 'renal tubular acidosis' SubClassOf 'renal tubule disease' 'renal tubular acidosis' SubClassOf 'renal tubular transport disease' 'renal tubular acidosis' SubClassOf 'acidosis' http://purl.obolibrary.org/obo/MONDO_0001902 congenital agammaglobulinemia 'congenital agammaglobulinemia' SubClassOf 'congenital hematological disorder' 'congenital agammaglobulinemia' SubClassOf 'Agammaglobulinemia' 'congenital agammaglobulinemia' EquivalentTo 'Agammaglobulinemia' and ('has modifier' some 'congenital') http://purl.obolibrary.org/obo/MONDO_0001926 ureteral disease 'ureteral disease' SubClassOf 'abdominal and pelvic region disorder' 'ureteral disease' SubClassOf 'urinary system disease' http://purl.obolibrary.org/obo/MONDO_0001933 endocrine pancreas disease 'endocrine pancreas disease' SubClassOf 'pancreas disease' http://purl.obolibrary.org/obo/MONDO_0001938 vulvar dystrophy 'vulvar dystrophy' SubClassOf 'vulvar disease' http://purl.obolibrary.org/obo/MONDO_0001941 blindness (disorder) 'blindness (disorder)' SubClassOf 'vision disorder' http://purl.obolibrary.org/obo/MONDO_0001955 protozoal dysentery 'protozoal dysentery' SubClassOf 'protozoa infectious disease' 'protozoal dysentery' EquivalentTo 'protozoa infectious disease' and 'dysentery' 'protozoal dysentery' SubClassOf 'parasitic intestinal disease' 'protozoal dysentery' SubClassOf 'dysentery' http://purl.obolibrary.org/obo/MONDO_0001967 gonadal dysgenesis 'gonadal dysgenesis' SubClassOf 'hypogonadism' http://purl.obolibrary.org/obo/MONDO_0013953 immunodeficiency 28 'immunodeficiency 28' SubClassOf 'inherited genetic disease' 'immunodeficiency 28' SubClassOf 'primary immunodeficiency disease' http://purl.obolibrary.org/obo/UBERON_0005594 head somite 'head somite' SubClassOf 'somite' 'head somite' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/MONDO_0001989 atrophic glossitis 'atrophic glossitis' SubClassOf 'glossitis' http://purl.obolibrary.org/obo/UBERON_0005598 trunk somite 'trunk somite' SubClassOf 'somite' http://purl.obolibrary.org/obo/UBERON_0005599 common dorsal aorta 'common dorsal aorta' SubClassOf 'aorta' 'common dorsal aorta' SubClassOf 'trunk blood vessel' http://purl.obolibrary.org/obo/UBERON_0005597 lung primordium 'lung primordium' SubClassOf 'primordium' http://purl.obolibrary.org/obo/MONDO_0037940 inherited auditory system disease 'inherited auditory system disease' SubClassOf 'Rare genetic neurological disorder' 'inherited auditory system disease' EquivalentTo 'auditory system disease' and ('has modifier' some 'inherited') 'inherited auditory system disease' SubClassOf 'auditory system disease' http://purl.obolibrary.org/obo/MONDO_0001999 primary pulmonary hypertension 'primary pulmonary hypertension' SubClassOf 'chronic pulmonary heart disease' http://purl.obolibrary.org/obo/MONDO_0037937 pyrimidine metabolism disease 'pyrimidine metabolism disease' SubClassOf 'nutritional or metabolic disease' 'pyrimidine metabolism disease' SubClassOf 'metabolic disease' http://purl.obolibrary.org/obo/MONDO_0037938 inborn disorder of aspartate family metabolism 'inborn disorder of aspartate family metabolism' SubClassOf 'inherited amino acid metabolic disorder' http://purl.obolibrary.org/obo/MONDO_0011323 arhinia, choanal atresia, and microphthalmia 'arhinia, choanal atresia, and microphthalmia' SubClassOf 'inherited genetic disease' http://purl.obolibrary.org/obo/MONDO_0023369 disease of facial skeleton 'disease of facial skeleton' SubClassOf 'skull disorder' 'disease of facial skeleton' SubClassOf 'face disease' http://purl.obolibrary.org/obo/UBERON_2001613 dorsal fin middle radial bone 'dorsal fin middle radial bone' SubClassOf 'dorsal fin radial bone' http://purl.obolibrary.org/obo/UBERON_2001614 anal fin middle radial bone 'anal fin middle radial bone' SubClassOf 'anal fin radial bone' http://purl.obolibrary.org/obo/UBERON_2001606 caudal scute 'caudal scute' SubClassOf 'fish scute' http://purl.obolibrary.org/obo/UBERON_2001608 autopalatine-lateral ethmoid joint 'autopalatine-lateral ethmoid joint' SubClassOf 'skeletal joint' http://purl.obolibrary.org/obo/MONDO_0023370 neoplastic disease or syndrome 'neoplastic disease or syndrome' EquivalentTo 'neoplastic syndrome' or 'neoplasm' 'neoplastic disease or syndrome' SubClassOf 'cell proliferation disorder' http://purl.obolibrary.org/obo/UBERON_2001530 epibranchial 2 cartilage 'epibranchial 2 cartilage' SubClassOf 'epibranchial cartilage' http://purl.obolibrary.org/obo/UBERON_2001531 epibranchial 4 cartilage 'epibranchial 4 cartilage' SubClassOf 'epibranchial cartilage' http://purl.obolibrary.org/obo/UBERON_2001532 sublingual dorsal cartilage 'sublingual dorsal cartilage' SubClassOf 'sublingual cartilage' http://purl.obolibrary.org/obo/UBERON_2001533 pharyngobranchial cartilage 'pharyngobranchial cartilage' SubClassOf 'pharyngeal arch cartilage' http://purl.obolibrary.org/obo/UBERON_2001534 pharyngobranchial 3 cartilage 'pharyngobranchial 3 cartilage' SubClassOf 'pharyngobranchial cartilage' http://purl.obolibrary.org/obo/UBERON_2001536 pharyngobranchial 2 cartilage 'pharyngobranchial 2 cartilage' SubClassOf 'pharyngobranchial cartilage' http://purl.obolibrary.org/obo/UBERON_2001520 ceratobranchial 1 cartilage 'ceratobranchial 1 cartilage' SubClassOf 'ceratobranchial cartilage' http://purl.obolibrary.org/obo/UBERON_2001521 ceratobranchial 5 cartilage 'ceratobranchial 5 cartilage' SubClassOf 'ceratobranchial cartilage' http://purl.obolibrary.org/obo/UBERON_2001522 hypobranchial cartilage 'hypobranchial cartilage' SubClassOf 'pharyngeal arch cartilage' http://purl.obolibrary.org/obo/UBERON_2001523 hypobranchial 4 cartilage 'hypobranchial 4 cartilage' SubClassOf 'hypobranchial cartilage' http://purl.obolibrary.org/obo/UBERON_2001524 hypobranchial 1 cartilage 'hypobranchial 1 cartilage' SubClassOf 'hypobranchial cartilage' http://purl.obolibrary.org/obo/UBERON_2001525 hypobranchial 2 cartilage 'hypobranchial 2 cartilage' SubClassOf 'hypobranchial cartilage' http://purl.obolibrary.org/obo/UBERON_2001526 hypobranchial 3 cartilage 'hypobranchial 3 cartilage' SubClassOf 'hypobranchial cartilage' http://purl.obolibrary.org/obo/UBERON_2001527 epibranchial cartilage 'epibranchial cartilage' SubClassOf 'pharyngeal arch cartilage' http://purl.obolibrary.org/obo/UBERON_2001528 epibranchial 1 cartilage 'epibranchial 1 cartilage' SubClassOf 'epibranchial cartilage' http://purl.obolibrary.org/obo/UBERON_2001529 epibranchial 3 cartilage 'epibranchial 3 cartilage' SubClassOf 'epibranchial cartilage' http://purl.obolibrary.org/obo/MONDO_0037792 carbohydrate metabolism disease 'carbohydrate metabolism disease' SubClassOf 'metabolic disease' 'carbohydrate metabolism disease' SubClassOf 'nutritional or metabolic disease' http://purl.obolibrary.org/obo/UBERON_2001511 interhyal cartilage 'interhyal cartilage' SubClassOf 'pharyngeal arch cartilage' http://purl.obolibrary.org/obo/UBERON_2001515 taenia marginalis posterior 'taenia marginalis posterior' SubClassOf 'cartilage element of chondrocranium' http://purl.obolibrary.org/obo/UBERON_2001516 ceratobranchial cartilage 'ceratobranchial cartilage' SubClassOf 'pharyngeal arch cartilage' http://purl.obolibrary.org/obo/UBERON_2001517 ceratobranchial 2 cartilage 'ceratobranchial 2 cartilage' SubClassOf 'ceratobranchial cartilage' http://purl.obolibrary.org/obo/UBERON_2001518 ceratobranchial 3 cartilage 'ceratobranchial 3 cartilage' SubClassOf 'ceratobranchial cartilage' http://purl.obolibrary.org/obo/UBERON_2001519 ceratobranchial 4 cartilage 'ceratobranchial 4 cartilage' SubClassOf 'ceratobranchial cartilage' http://purl.obolibrary.org/obo/UBERON_2001502 epiphyseal bar 'epiphyseal bar' SubClassOf 'cartilage element of chondrocranium' http://purl.obolibrary.org/obo/UBERON_2001504 occipital arch cartilage 'occipital arch cartilage' SubClassOf 'cartilage element of chondrocranium' http://purl.obolibrary.org/obo/UBERON_2001505 taenia marginalis anterior 'taenia marginalis anterior' SubClassOf 'cartilage element of chondrocranium' http://purl.obolibrary.org/obo/UBERON_2001508 trabecula communis 'trabecula communis' SubClassOf 'cartilage element of chondrocranium' http://purl.obolibrary.org/obo/UBERON_2001579 ural vertebra 2 'ural vertebra 2' SubClassOf 'ural vertebra' http://purl.obolibrary.org/obo/UBERON_2001560 hypural 1 'hypural 1' SubClassOf 'hypural' http://purl.obolibrary.org/obo/UBERON_2001561 hypural 2 'hypural 2' SubClassOf 'hypural' http://purl.obolibrary.org/obo/UBERON_2001562 hypural 3 'hypural 3' SubClassOf 'hypural' http://purl.obolibrary.org/obo/UBERON_2001563 hypural 4 'hypural 4' SubClassOf 'hypural' http://purl.obolibrary.org/obo/UBERON_2001564 hypural 5 'hypural 5' SubClassOf 'hypural' http://purl.obolibrary.org/obo/UBERON_2001553 manubrium 'manubrium' SubClassOf 'endochondral bone' http://purl.obolibrary.org/obo/UBERON_2001544 sublingual cartilage 'sublingual cartilage' SubClassOf 'pharyngeal arch cartilage' http://purl.obolibrary.org/obo/UBERON_2001545 sublingual ventral cartilage 'sublingual ventral cartilage' SubClassOf 'sublingual cartilage' http://purl.obolibrary.org/obo/UBERON_2001547 abdominal scute 'abdominal scute' SubClassOf 'fish scute' http://purl.obolibrary.org/obo/UBERON_0005427 corneal primordium 'corneal primordium' SubClassOf 'primordium' http://purl.obolibrary.org/obo/UBERON_0005424 presumptive retinal pigmented epithelium 'presumptive retinal pigmented epithelium' SubClassOf 'presumptive structure' http://purl.obolibrary.org/obo/UBERON_0005425 presumptive neural retina 'presumptive neural retina' SubClassOf 'presumptive structure' http://purl.obolibrary.org/obo/UBERON_0005422 pelvic appendage apical ectodermal ridge 'pelvic appendage apical ectodermal ridge' SubClassOf 'apical ectodermal ridge' http://purl.obolibrary.org/obo/UBERON_0005420 pelvic appendage bud 'pelvic appendage bud' SubClassOf 'paired limb/fin bud' http://purl.obolibrary.org/obo/UBERON_0005421 pectoral appendage apical ectodermal ridge 'pectoral appendage apical ectodermal ridge' SubClassOf 'apical ectodermal ridge' http://purl.obolibrary.org/obo/UBERON_0005430 ansa cervicalis 'ansa cervicalis' SubClassOf 'nerve' http://purl.obolibrary.org/obo/UBERON_0005438 coronary sinus 'coronary sinus' SubClassOf 'venous blood vessel' 'coronary sinus' SubClassOf 'heart blood vessel' http://purl.obolibrary.org/obo/UBERON_0005436 common hepatic artery 'common hepatic artery' SubClassOf 'systemic artery' http://purl.obolibrary.org/obo/UBERON_0005431 anterior spinal artery 'anterior spinal artery' SubClassOf 'spinal artery' 'anterior spinal artery' DisjointWith 'posterior spinal artery' 'anterior spinal artery' SubClassOf 'branch of vertebral artery' http://purl.obolibrary.org/obo/UBERON_0005432 aortic sac 'aortic sac' SubClassOf 'heart blood vessel' 'aortic sac' SubClassOf 'embryonic structure' 'aortic sac' SubClassOf 'artery' http://purl.obolibrary.org/obo/UBERON_2001592 claustrum bone 'claustrum bone' SubClassOf 'endochondral bone' http://purl.obolibrary.org/obo/UBERON_0005441 external intercostal muscle 'external intercostal muscle' SubClassOf 'intercostal muscle' http://purl.obolibrary.org/obo/UBERON_0005448 greater omentum 'greater omentum' SubClassOf 'omentum' http://purl.obolibrary.org/obo/UBERON_0005442 abdominal external oblique muscle 'abdominal external oblique muscle' SubClassOf 'abdominal oblique muscle' http://purl.obolibrary.org/obo/UBERON_2001581 ural centrum 2 'ural centrum 2' SubClassOf 'bone of dorsum' 'ural centrum 2' SubClassOf 'ural centrum' http://purl.obolibrary.org/obo/UBERON_2001582 non-Weberian precaudal vertebra 'non-Weberian precaudal vertebra' SubClassOf 'precaudal vertebra' http://purl.obolibrary.org/obo/UBERON_2001583 preural centrum 1+ ural centrum 1 'preural centrum 1+ ural centrum 1' SubClassOf 'urostyle' http://purl.obolibrary.org/obo/UBERON_2001584 caudal procurrent ray 'caudal procurrent ray' SubClassOf 'caudal fin lepidotrichium' http://purl.obolibrary.org/obo/UBERON_2001585 caudal principal ray 'caudal principal ray' SubClassOf 'caudal fin lepidotrichium' http://purl.obolibrary.org/obo/UBERON_2001586 pectoral fin radial bone 'pectoral fin radial bone' SubClassOf 'paired fin radial bone' 'pectoral fin radial bone' SubClassOf 'bone of pectoral complex' http://purl.obolibrary.org/obo/UBERON_2001587 pectoral fin proximal radial bone 'pectoral fin proximal radial bone' SubClassOf 'pectoral fin radial bone' http://purl.obolibrary.org/obo/UBERON_2001588 pectoral fin distal radial bone 'pectoral fin distal radial bone' SubClassOf 'pectoral fin radial bone' http://purl.obolibrary.org/obo/UBERON_0005459 left umbilical vein 'left umbilical vein' SubClassOf 'umbilical vein' http://purl.obolibrary.org/obo/UBERON_0005458 left umbilical artery 'left umbilical artery' SubClassOf 'umbilical artery' http://purl.obolibrary.org/obo/UBERON_0005453 inferior mesenteric ganglion 'inferior mesenteric ganglion' SubClassOf 'mesenteric ganglion' http://purl.obolibrary.org/obo/UBERON_0005454 abdominal internal oblique muscle 'abdominal internal oblique muscle' SubClassOf 'abdominal oblique muscle' 'abdominal internal oblique muscle' SubClassOf 'axial muscle' http://purl.obolibrary.org/obo/UBERON_0005406 perirenal fat 'perirenal fat' SubClassOf 'adipose tissue' http://purl.obolibrary.org/obo/UBERON_0005407 sublingual ganglion 'sublingual ganglion' SubClassOf 'parasympathetic ganglion' http://purl.obolibrary.org/obo/UBERON_0005404 frontonasal suture 'frontonasal suture' SubClassOf 'craniofacial suture' http://purl.obolibrary.org/obo/UBERON_0005405 pararenal fat 'pararenal fat' SubClassOf 'adipose tissue' http://purl.obolibrary.org/obo/UBERON_0005400 telencephalon arachnoid mater 'telencephalon arachnoid mater' SubClassOf 'forebrain arachnoid mater' 'telencephalon arachnoid mater' SubClassOf 'meninx of telencephalon' http://purl.obolibrary.org/obo/UBERON_0005419 pectoral appendage bud 'pectoral appendage bud' SubClassOf 'paired limb/fin bud' http://purl.obolibrary.org/obo/UBERON_0005417 forelimb bud 'forelimb bud' SubClassOf 'pectoral appendage bud' 'forelimb bud' DisjointWith 'hindlimb bud' 'forelimb bud' SubClassOf 'limb bud' http://purl.obolibrary.org/obo/UBERON_0005418 hindlimb bud 'forelimb bud' DisjointWith 'hindlimb bud' 'hindlimb bud' SubClassOf 'limb bud' 'hindlimb bud' SubClassOf 'pelvic appendage bud' http://purl.obolibrary.org/obo/UBERON_3000288 maxillopalatine 'maxillopalatine' SubClassOf 'pneumatized bone' 'maxillopalatine' SubClassOf 'bone of upper jaw' 'maxillopalatine' SubClassOf 'dermal bone' http://purl.obolibrary.org/obo/UBERON_0005411 bony otic capsule 'bony otic capsule' SubClassOf 'endochondral bone' 'bony otic capsule' SubClassOf 'neurocranium bone' 'bony otic capsule' SubClassOf 'facial bone' http://purl.obolibrary.org/obo/MONDO_0001806 vaginal squamous tumor 'vaginal squamous tumor' SubClassOf 'squamous cell neoplasm' 'vaginal squamous tumor' SubClassOf 'Vaginal neoplasm' http://purl.obolibrary.org/obo/UBERON_0005410 cartilaginous otic capsule 'cartilaginous otic capsule' SubClassOf 'cartilage element of chondrocranium' http://purl.obolibrary.org/obo/MONDO_0001812 parasitic eyelid infestation 'parasitic eyelid infestation' SubClassOf 'blepharitis' 'parasitic eyelid infestation' SubClassOf 'parasitic eye infection' http://purl.obolibrary.org/obo/MONDO_0001823 sick sinus syndrome 'sick sinus syndrome' SubClassOf 'syndromic disease' 'sick sinus syndrome' SubClassOf 'sinoatrial node disease' http://purl.obolibrary.org/obo/MONDO_0001822 hypolipoproteinemia (disease) 'hypolipoproteinemia (disease)' SubClassOf 'Disorder of lipid metabolism' http://purl.obolibrary.org/obo/MONDO_0001828 acquired color blindness 'acquired color blindness' EquivalentTo 'Color-vision disease' and ('has modifier' some 'acquired') 'acquired color blindness' SubClassOf 'has modifier' some 'acquired' 'acquired color blindness' SubClassOf 'Color-vision disease' http://purl.obolibrary.org/obo/MONDO_0001835 facial paralysis 'facial paralysis' SubClassOf 'face disease' 'facial paralysis' SubClassOf 'palsy' http://purl.obolibrary.org/obo/MONDO_0001834 visual pathway disease 'visual pathway disease' SubClassOf 'brain disease' 'visual pathway disease' SubClassOf 'vision disorder' http://purl.obolibrary.org/obo/MONDO_0013824 Joubert syndrome 17 'Joubert syndrome 17' SubClassOf 'Joubert syndrome' http://purl.obolibrary.org/obo/MONDO_0001852 small intestine lymphoma 'small intestine lymphoma' SubClassOf 'small intestine cancer' 'small intestine lymphoma' SubClassOf 'gastrointestinal lymphoma' http://purl.obolibrary.org/obo/MONDO_0037807 glycerol metabolism disease 'glycerol metabolism disease' SubClassOf 'carbohydrate metabolism disease' http://purl.obolibrary.org/obo/UBERON_0005460 left vitelline vein 'left vitelline vein' SubClassOf 'vitelline vein' http://purl.obolibrary.org/obo/UBERON_0005461 levator scapulae muscle 'levator scapulae muscle' SubClassOf 'muscle of shoulder' 'levator scapulae muscle' SubClassOf 'axial muscle' 'levator scapulae muscle' SubClassOf 'scapular muscle' 'levator scapulae muscle' SubClassOf 'muscle of vertebral column' http://purl.obolibrary.org/obo/UBERON_0005467 platysma 'platysma' SubClassOf 'hypodermis skeletal muscle layer' 'platysma' SubClassOf 'facial muscle' http://purl.obolibrary.org/obo/UBERON_0005464 median sacral artery 'median sacral artery' SubClassOf 'abdominal aorta artery' http://purl.obolibrary.org/obo/UBERON_0005465 obturator nerve 'obturator nerve' SubClassOf 'nerve' http://purl.obolibrary.org/obo/UBERON_0005471 right umbilical vein 'right umbilical vein' SubClassOf 'umbilical vein' http://purl.obolibrary.org/obo/UBERON_0005472 right vitelline vein 'right vitelline vein' SubClassOf 'vitelline vein' http://purl.obolibrary.org/obo/UBERON_3000224 hyobranchial muscle 'hyobranchial muscle' SubClassOf 'cranial muscle' http://purl.obolibrary.org/obo/UBERON_0005470 right umbilical artery 'right umbilical artery' SubClassOf 'umbilical artery' http://purl.obolibrary.org/obo/UBERON_0005479 superior mesenteric ganglion 'superior mesenteric ganglion' SubClassOf 'mesenteric ganglion' http://purl.obolibrary.org/obo/UBERON_0005477 stomach fundus epithelium 'stomach fundus epithelium' SubClassOf 'epithelium of stomach' http://purl.obolibrary.org/obo/UBERON_0005475 sigmoid sinus 'sigmoid sinus' SubClassOf 'paired venous dural sinus' 'sigmoid sinus' SubClassOf 'neck blood vessel' http://purl.obolibrary.org/obo/MONDO_0037829 purine metabolism disease 'purine metabolism disease' SubClassOf 'nutritional or metabolic disease' 'purine metabolism disease' SubClassOf 'metabolic disease' http://purl.obolibrary.org/obo/MONDO_0037821 porphyrin metabolism disease 'porphyrin metabolism disease' SubClassOf 'nutritional or metabolic disease' 'porphyrin metabolism disease' SubClassOf 'metabolic disease' http://purl.obolibrary.org/obo/UBERON_0005481 tentorial sinus 'tentorial sinus' SubClassOf 'unpaired venous dural sinus' http://purl.obolibrary.org/obo/MONDO_0001879 anus cancer 'anus cancer' SubClassOf 'anus neoplasm' 'anus cancer' SubClassOf 'rectum cancer' http://purl.obolibrary.org/obo/MONDO_0001878 acquired hypertrophic pyloric stenosis 'acquired hypertrophic pyloric stenosis' EquivalentTo 'infantile hypertrophic pyloric stenosis' and ('has modifier' some 'acquired') 'acquired hypertrophic pyloric stenosis' SubClassOf 'has modifier' some 'acquired' 'acquired hypertrophic pyloric stenosis' SubClassOf 'infantile hypertrophic pyloric stenosis' http://purl.obolibrary.org/obo/UBERON_0005486 venous dural sinus 'venous dural sinus' SubClassOf 'venous sinus' http://purl.obolibrary.org/obo/UBERON_0005487 vitelline vein 'vitelline vein' SubClassOf 'systemic vein' 'vitelline vein' SubClassOf 'vitelline blood vessel' http://purl.obolibrary.org/obo/UBERON_0005494 intermediate mesenchyme 'intermediate mesenchyme' SubClassOf 'trunk mesenchyme' http://purl.obolibrary.org/obo/UBERON_0005491 glossopharyngeal neural crest 'glossopharyngeal neural crest' SubClassOf 'cranial neural crest' http://purl.obolibrary.org/obo/UBERON_0005492 hyaloid vessel 'hyaloid vessel' SubClassOf 'head blood vessel' http://purl.obolibrary.org/obo/MONDO_0001898 optic choroid disease 'optic choroid disease' SubClassOf 'ocular vascular disease' 'optic choroid disease' SubClassOf 'uveal disease' http://purl.obolibrary.org/obo/MONDO_0023224 inherited reflex epilepsy 'inherited reflex epilepsy' SubClassOf 'Rare genetic neurological disorder' 'inherited reflex epilepsy' EquivalentTo 'reflex epilepsy' and ('has modifier' some 'inherited') 'inherited reflex epilepsy' SubClassOf 'reflex epilepsy' http://purl.obolibrary.org/obo/MONDO_0037858 inherited fatty acid metabolism disorder 'inherited fatty acid metabolism disorder' SubClassOf 'Disorder of lipid metabolism' 'inherited fatty acid metabolism disorder' SubClassOf 'Organic aciduria' http://purl.obolibrary.org/obo/MONDO_0037872 bordetellosis 'bordetellosis' SubClassOf 'gram-negative bacterial infections' http://purl.obolibrary.org/obo/MONDO_0037870 valine metabolism disease 'valine metabolism disease' SubClassOf 'amino acid metabolism disease' http://purl.obolibrary.org/obo/MONDO_0037871 amino acid metabolism disease 'amino acid metabolism disease' SubClassOf 'disorder of organic acid metabolism' http://purl.obolibrary.org/obo/MONDO_0011271 rigid spine muscular dystrophy 1 'rigid spine muscular dystrophy 1' SubClassOf 'Rigid spine syndrome' 'rigid spine muscular dystrophy 1' SubClassOf 'Multiminicore myopathy' http://purl.obolibrary.org/obo/MONDO_0023258 glycogen storage disease type 1 due to SLC37A4 mutation 'glycogen storage disease type 1 due to SLC37A4 mutation' SubClassOf 'Glycogen storage disease due to glucose-6-phosphatase deficiency' http://purl.obolibrary.org/obo/UBERON_2001880 rib of vertebra 3 'rib of vertebra 3' SubClassOf 'rib' http://purl.obolibrary.org/obo/UBERON_2001881 rib of vertebra 4 'rib of vertebra 4' SubClassOf 'rib' http://purl.obolibrary.org/obo/UBERON_2001882 parapophysis + rib of vertebra 3 'parapophysis + rib of vertebra 3' SubClassOf 'endochondral bone' http://purl.obolibrary.org/obo/UBERON_2001883 parapophysis + rib of vertebra 3 + rib of vertebra 4 'parapophysis + rib of vertebra 3 + rib of vertebra 4' SubClassOf 'endochondral bone' http://purl.obolibrary.org/obo/UBERON_2001884 accessory neural arch 'accessory neural arch' SubClassOf 'neural arch' http://purl.obolibrary.org/obo/UBERON_2001888 supraneural 1 bone 'supraneural 1 bone' SubClassOf 'supraneural bone' http://purl.obolibrary.org/obo/UBERON_2001872 trunk sensory canal system 'trunk sensory canal system' SubClassOf 'lateral line system' http://purl.obolibrary.org/obo/UBERON_2001873 head sensory canal system 'head sensory canal system' SubClassOf 'lateral line system' http://purl.obolibrary.org/obo/UBERON_2001874 basibranchial 2 cartilage 'basibranchial 2 cartilage' SubClassOf 'basibranchial cartilage' http://purl.obolibrary.org/obo/UBERON_2001876 basibranchial 3 cartilage 'basibranchial 3 cartilage' SubClassOf 'basibranchial cartilage' http://purl.obolibrary.org/obo/UBERON_2001877 neural arch 1 'neural arch 1' SubClassOf 'neural arch' http://purl.obolibrary.org/obo/UBERON_2001878 rib of vertebra 2 'rib of vertebra 2' SubClassOf 'rib' http://purl.obolibrary.org/obo/UBERON_2001879 rib of vertebra 1 'rib of vertebra 1' SubClassOf 'rib' http://purl.obolibrary.org/obo/UBERON_0007914 bone of craniocervical region 'bone of craniocervical region' SubClassOf 'bone' http://purl.obolibrary.org/obo/UBERON_2001860 epibranchial 4-upper pharyngeal toothplate joint 'epibranchial 4-upper pharyngeal toothplate joint' SubClassOf 'skeletal joint' http://purl.obolibrary.org/obo/UBERON_2001861 epibranchial 3-pharyngobranchial 3 joint 'epibranchial 3-pharyngobranchial 3 joint' SubClassOf 'skeletal joint' http://purl.obolibrary.org/obo/UBERON_2001862 epibranchial 3-pharyngobranchial 4 joint 'epibranchial 3-pharyngobranchial 4 joint' SubClassOf 'skeletal joint' http://purl.obolibrary.org/obo/UBERON_2001863 inter-hypobranchial 3 joint 'inter-hypobranchial 3 joint' SubClassOf 'skeletal joint' http://purl.obolibrary.org/obo/UBERON_2001864 basibranchial 1 cartilage 'basibranchial 1 cartilage' SubClassOf 'basibranchial cartilage' http://purl.obolibrary.org/obo/UBERON_2001865 basibranchial 4 cartilage 'basibranchial 4 cartilage' SubClassOf 'basibranchial cartilage' http://purl.obolibrary.org/obo/UBERON_2001866 basibranchial 5 cartilage 'basibranchial 5 cartilage' SubClassOf 'basibranchial cartilage' http://purl.obolibrary.org/obo/UBERON_2001867 post-ceratobranchial cartilage 'post-ceratobranchial cartilage' SubClassOf 'pharyngeal arch cartilage' http://purl.obolibrary.org/obo/UBERON_4300087 mesopterygium bone 'mesopterygium bone' SubClassOf 'pectoral fin proximal radial bone' http://purl.obolibrary.org/obo/UBERON_4300089 propterygium bone 'propterygium bone' SubClassOf 'pectoral fin proximal radial bone' http://purl.obolibrary.org/obo/UBERON_4300088 metapterygium bone 'metapterygium bone' SubClassOf 'pectoral fin proximal radial bone' http://purl.obolibrary.org/obo/UBERON_0007960 scapholunate 'scapholunate' SubClassOf 'proximal carpal bone' http://purl.obolibrary.org/obo/UBERON_0005301 male preputial gland 'male preputial gland' SubClassOf 'male accessory sex gland' 'male preputial gland' SubClassOf 'preputial gland' http://purl.obolibrary.org/obo/UBERON_0005302 female preputial gland 'female preputial gland' SubClassOf 'preputial gland' 'female preputial gland' SubClassOf 'female reproductive gland' http://purl.obolibrary.org/obo/UBERON_4300098 anal fin spine 2 'anal fin spine 2' SubClassOf 'anal fin spine' http://purl.obolibrary.org/obo/UBERON_4300097 anal fin spine 1 'anal fin spine 1' SubClassOf 'anal fin spine' http://purl.obolibrary.org/obo/UBERON_0005316 endocardial endothelium 'endocardial endothelium' SubClassOf 'heart endothelium' http://purl.obolibrary.org/obo/UBERON_0005317 pulmonary artery endothelium 'pulmonary artery endothelium' SubClassOf 'endothelium of artery' http://purl.obolibrary.org/obo/UBERON_0005314 alveolar primary septum 'alveolar primary septum' SubClassOf 'pulmonary alveolus epithelium' http://purl.obolibrary.org/obo/UBERON_0005315 alveolar secondary septum 'alveolar secondary septum' SubClassOf 'pulmonary alveolus epithelium' http://purl.obolibrary.org/obo/UBERON_0005312 primary ureteric bud 'primary ureteric bud' SubClassOf 'ureteric bud' http://purl.obolibrary.org/obo/UBERON_0005313 mammary duct terminal end bud 'mammary duct terminal end bud' SubClassOf 'epithelial bud' 'mammary duct terminal end bud' SubClassOf 'epithelium of mammary gland' 'mammary duct terminal end bud' SubClassOf 'epithelial layer of duct' http://purl.obolibrary.org/obo/UBERON_0005310 pronephric nephron tubule 'pronephric nephron tubule' SubClassOf 'nephron tubule' 'pronephric nephron tubule' SubClassOf 'meso-epithelium' http://purl.obolibrary.org/obo/UBERON_0005311 mammary placode 'mammary placode' SubClassOf 'non-neurogenic ectodermal placode' http://purl.obolibrary.org/obo/UBERON_0005329 mesonephric nephron tubule 'mesonephric nephron tubule' SubClassOf 'mesonephric tubule' 'mesonephric nephron tubule' SubClassOf 'nephron tubule' 'mesonephric nephron tubule' SubClassOf 'mesonephric nephron epithelium' http://purl.obolibrary.org/obo/UBERON_0005327 mesonephric glomerular epithelium 'mesonephric glomerular epithelium' SubClassOf 'glomerular epithelium' 'mesonephric glomerular epithelium' SubClassOf 'mesonephric nephron epithelium' http://purl.obolibrary.org/obo/UBERON_0005325 mesonephric glomerulus 'mesonephric glomerulus' SubClassOf 'renal glomerulus' http://purl.obolibrary.org/obo/UBERON_0005326 mesonephric glomerulus vasculature 'mesonephric glomerulus vasculature' SubClassOf 'renal glomerulus vasculature' http://purl.obolibrary.org/obo/UBERON_0005324 mesonephric macula densa 'mesonephric macula densa' SubClassOf 'macula densa' 'mesonephric macula densa' SubClassOf 'mesonephric nephron epithelium' http://purl.obolibrary.org/obo/UBERON_0005321 mesonephric smooth muscle tissue 'mesonephric smooth muscle tissue' SubClassOf 'smooth muscle tissue' http://purl.obolibrary.org/obo/UBERON_0005330 mesonephric nephron epithelium 'mesonephric nephron epithelium' SubClassOf 'nephron epithelium' 'mesonephric nephron epithelium' SubClassOf 'mesonephric epithelium' http://purl.obolibrary.org/obo/UBERON_0007993 ulnar sesamoid bone 'ulnar sesamoid bone' SubClassOf 'forelimb zeugopod bone' 'ulnar sesamoid bone' SubClassOf 'sesamoid bone' http://purl.obolibrary.org/obo/UBERON_0005331 mesonephric renal vesicle 'mesonephric renal vesicle' SubClassOf 'renal vesicle' 'mesonephric renal vesicle' SubClassOf 'mesonephric epithelium' http://purl.obolibrary.org/obo/UBERON_0007991 proximal sesamoid bone of manus 'proximal sesamoid bone of manus' SubClassOf 'manual digit bone' 'proximal sesamoid bone of manus' SubClassOf 'sesamoid bone of manus' http://purl.obolibrary.org/obo/UBERON_0007990 proximal sesamoid bone of pes 'proximal sesamoid bone of pes' SubClassOf 'pedal digit bone' 'proximal sesamoid bone of pes' SubClassOf 'sesamoid bone of pes' http://purl.obolibrary.org/obo/UBERON_0007997 sesamoid bone of manus 'sesamoid bone of manus' SubClassOf 'sesamoid bone' 'sesamoid bone of manus' SubClassOf 'manus bone' http://purl.obolibrary.org/obo/UBERON_0005333 mammary bud 'mammary bud' SubClassOf 'epithelial bud' 'mammary bud' SubClassOf 'ecto-epithelium' http://purl.obolibrary.org/obo/UBERON_0007959 falciform carpal bone 'falciform carpal bone' SubClassOf 'carpal bone' http://purl.obolibrary.org/obo/UBERON_0007958 central carpal bone 'central carpal bone' SubClassOf 'centrale' 'central carpal bone' SubClassOf 'carpal bone' http://purl.obolibrary.org/obo/UBERON_4300124 axis intercentrum 'axis intercentrum' SubClassOf 'intercentrum' http://purl.obolibrary.org/obo/UBERON_0005385 nasal cavity respiratory epithelium 'nasal cavity respiratory epithelium' SubClassOf 'nasal cavity epithelium' http://purl.obolibrary.org/obo/UBERON_0005386 olfactory segment of nasal mucosa 'olfactory segment of nasal mucosa' DisjointWith 'respiratory segment of nasal mucosa' 'olfactory segment of nasal mucosa' SubClassOf 'nasal cavity mucosa' http://purl.obolibrary.org/obo/UBERON_0005384 nasal cavity epithelium 'nasal cavity epithelium' SubClassOf 'epithelium of mucosa' 'nasal cavity epithelium' SubClassOf 'upper respiratory tract epithelium' 'nasal cavity epithelium' SubClassOf 'nose epithelium' http://purl.obolibrary.org/obo/UBERON_4300128 sacral rib 'sacral rib' SubClassOf 'rib' 'sacral rib' SubClassOf 'abdominal segment bone' http://purl.obolibrary.org/obo/UBERON_4300126 tectorial restraint system 'tectorial restraint system' SubClassOf 'anatomical system' http://purl.obolibrary.org/obo/UBERON_4300129 dorsal pelvic gland 'dorsal pelvic gland' SubClassOf 'cloacal gland' http://purl.obolibrary.org/obo/UBERON_4300130 lateral pelvic gland 'lateral pelvic gland' SubClassOf 'cloacal gland' http://purl.obolibrary.org/obo/MONDO_0001700 megaloblastic anemia (disease) 'megaloblastic anemia (disease)' SubClassOf 'macrocytic anemia (disease)' http://purl.obolibrary.org/obo/UBERON_4300135 upper jaw symphyseal tooth 'upper jaw symphyseal tooth' SubClassOf 'tooth' http://purl.obolibrary.org/obo/UBERON_0005397 brain arachnoid mater 'brain arachnoid mater' SubClassOf 'arachnoid mater' 'brain arachnoid mater' SubClassOf 'brain meninx' http://purl.obolibrary.org/obo/MONDO_0001704 vaginal glandular neoplasm 'vaginal glandular neoplasm' SubClassOf 'glandular cell neoplasm' 'vaginal glandular neoplasm' SubClassOf 'Vaginal neoplasm' http://purl.obolibrary.org/obo/UBERON_0005398 female reproductive gland 'female reproductive gland' SubClassOf 'reproductive gland' http://purl.obolibrary.org/obo/MONDO_0001705 pure red-cell aplasia 'pure red-cell aplasia' SubClassOf 'anemia (disease)' http://purl.obolibrary.org/obo/UBERON_0005399 male reproductive gland 'male reproductive gland' SubClassOf 'reproductive gland' http://purl.obolibrary.org/obo/UBERON_4300102 postcleithral scale 'postcleithral scale' SubClassOf 'dermal scale' http://purl.obolibrary.org/obo/UBERON_4300105 caudal vertebra 1 'caudal vertebra 1' SubClassOf 'caudal vertebra' http://purl.obolibrary.org/obo/MONDO_0001713 inherited aplastic anemia 'inherited aplastic anemia' SubClassOf 'inherited genetic disease' 'inherited aplastic anemia' SubClassOf 'anemia (disease)' 'inherited aplastic anemia' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/UBERON_4300104 ectocoracoid bone 'ectocoracoid bone' SubClassOf 'pectoral girdle bone' 'ectocoracoid bone' SubClassOf 'dermal bone' http://purl.obolibrary.org/obo/UBERON_4300103 rudimentary pectoral fin ray 'rudimentary pectoral fin ray' SubClassOf 'pectoral fin ray' http://purl.obolibrary.org/obo/MONDO_0001718 scleritis (disease) 'scleritis (disease)' SubClassOf 'scleral disease' http://purl.obolibrary.org/obo/UBERON_4300117 pelvic fin ray 'pelvic fin ray' SubClassOf 'pelvic fin lepidotrichium' http://purl.obolibrary.org/obo/UBERON_4300116 dorsal fin ray 'dorsal fin ray' SubClassOf 'dorsal fin lepidotrichium' http://purl.obolibrary.org/obo/UBERON_4300115 sucking disc 'sucking disc' SubClassOf 'dorsal fin' http://purl.obolibrary.org/obo/UBERON_4300114 pelvic sucking disc 'pelvic sucking disc' SubClassOf 'pelvic fin' http://purl.obolibrary.org/obo/MONDO_0013713 dengue virus, susceptibility to 'dengue virus, susceptibility to' SubClassOf 'predisposes towards' some 'dengue disease' 'dengue virus, susceptibility to' SubClassOf 'Genetic susceptibility to infections due to particular pathogens' 'dengue virus, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'dengue disease') http://purl.obolibrary.org/obo/UBERON_0005344 peritoneal vaginal process 'peritoneal vaginal process' SubClassOf 'fold of peritoneum' http://purl.obolibrary.org/obo/UBERON_4300175 procumbent dorsal fin spine 'procumbent dorsal fin spine' SubClassOf 'dorsal fin spine' http://purl.obolibrary.org/obo/MONDO_0001744 angle-closure glaucoma 'angle-closure glaucoma' SubClassOf 'glaucoma' http://purl.obolibrary.org/obo/MONDO_0001748 maxillary sinus carcinoma 'maxillary sinus carcinoma' SubClassOf 'maxillary sinus neoplasm' 'maxillary sinus carcinoma' SubClassOf 'jaw cancer' 'maxillary sinus carcinoma' SubClassOf 'Digestive System Carcinoma' 'maxillary sinus carcinoma' SubClassOf 'paranasal sinus carcinoma' http://purl.obolibrary.org/obo/UBERON_0005359 spinal cord ependyma 'spinal cord ependyma' SubClassOf 'ependyma' http://purl.obolibrary.org/obo/UBERON_0005356 Rathke's pouch 'Rathke's pouch' SubClassOf 'ecto-epithelium' 'Rathke's pouch' SubClassOf 'epithelial sac' http://purl.obolibrary.org/obo/UBERON_0005357 brain ependyma 'brain ependyma' SubClassOf 'ependyma' http://purl.obolibrary.org/obo/MONDO_0001751 cholestasis 'cholestasis' SubClassOf 'bile duct disease' http://purl.obolibrary.org/obo/MONDO_0001750 non-renal secondary hyperparathyroidism 'non-renal secondary hyperparathyroidism' SubClassOf 'secondary hyperparathyroidism' 'secondary hyperparathyroidism of renal origin' DisjointWith 'non-renal secondary hyperparathyroidism' http://purl.obolibrary.org/obo/MONDO_0013730 graft versus host disease 'graft versus host disease' SubClassOf 'has modifier' some 'rare' 'graft versus host disease' SubClassOf 'immune system disease' http://purl.obolibrary.org/obo/UBERON_0005364 superior vagus X ganglion 'superior vagus X ganglion' SubClassOf 'vagus X ganglion' http://purl.obolibrary.org/obo/UBERON_0005361 superior glossopharyngeal IX ganglion 'superior glossopharyngeal IX ganglion' SubClassOf 'glossopharyngeal ganglion' http://purl.obolibrary.org/obo/UBERON_0005362 vagus X ganglion 'vagus X ganglion' SubClassOf 'epibranchial ganglion' http://purl.obolibrary.org/obo/UBERON_0005360 inferior glossopharyngeal IX ganglion 'inferior glossopharyngeal IX ganglion' SubClassOf 'glossopharyngeal ganglion' http://purl.obolibrary.org/obo/MONDO_0001764 ethmoidal sinus neoplasm 'ethmoidal sinus neoplasm' SubClassOf 'paranasal sinus neoplasm' http://purl.obolibrary.org/obo/UBERON_4300155 pectoral splint 'pectoral splint' SubClassOf 'bone of pectoral complex' 'pectoral splint' SubClassOf 'bone of free limb or fin' 'pectoral splint' SubClassOf 'fin bone' http://purl.obolibrary.org/obo/MONDO_0001763 ethmoid sinus cancer 'ethmoid sinus cancer' SubClassOf 'paranasal sinus carcinoma' 'ethmoid sinus cancer' SubClassOf 'ethmoidal sinus neoplasm' http://purl.obolibrary.org/obo/MONDO_0001770 gastrin secretion abnormality 'gastrin secretion abnormality' SubClassOf 'endocrine pancreas disease' http://purl.obolibrary.org/obo/UBERON_2001815 nuchal plate 'nuchal plate' SubClassOf 'dermal bone' http://purl.obolibrary.org/obo/UBERON_2001816 anterior nuchal plate 'anterior nuchal plate' SubClassOf 'endochondral bone' 'anterior nuchal plate' SubClassOf 'nuchal plate' http://purl.obolibrary.org/obo/UBERON_2001817 middle nuchal plate 'middle nuchal plate' SubClassOf 'endochondral bone' 'middle nuchal plate' SubClassOf 'nuchal plate' 'middle nuchal plate' SubClassOf 'bone of dorsum' 'middle nuchal plate' SubClassOf 'fin bone' http://purl.obolibrary.org/obo/UBERON_2001818 dorsal fin proximal radial bone 1 'dorsal fin proximal radial bone 1' SubClassOf 'dorsal fin proximal radial bone' http://purl.obolibrary.org/obo/UBERON_2001819 dorsal fin proximal radial bone 2 'dorsal fin proximal radial bone 2' SubClassOf 'dorsal fin proximal radial bone' http://purl.obolibrary.org/obo/MONDO_0001784 malignant renovascular hypertension 'malignant renovascular hypertension' EquivalentTo 'malignant hypertension' and 'renal hypertension' 'malignant renovascular hypertension' SubClassOf 'malignant hypertensive renal disease' 'malignant renovascular hypertension' SubClassOf 'renal hypertension' 'malignant renovascular hypertension' SubClassOf 'malignant secondary hypertension' http://purl.obolibrary.org/obo/MONDO_0001785 malignant secondary hypertension 'malignant secondary hypertension' SubClassOf 'malignant hypertension' 'malignant secondary hypertension' EquivalentTo 'malignant hypertension' and 'secondary hypertension' 'malignant secondary hypertension' SubClassOf 'secondary hypertension' http://purl.obolibrary.org/obo/UBERON_2001800 cephalic rib 'cephalic rib' SubClassOf 'epicentral bone' http://purl.obolibrary.org/obo/UBERON_2001801 quadrate-hyomandibula joint 'quadrate-hyomandibula joint' SubClassOf 'skeletal joint' http://purl.obolibrary.org/obo/UBERON_2001803 quadrate-metapterygoid joint 'quadrate-metapterygoid joint' SubClassOf 'skeletal joint' http://purl.obolibrary.org/obo/UBERON_2001805 articular bone 'articular bone' SubClassOf 'bone of lower jaw' 'articular bone' SubClassOf 'endochondral bone' http://purl.obolibrary.org/obo/MONDO_0011118 bilineal acute myeloid leukemia 'bilineal acute myeloid leukemia' SubClassOf 'acute leukemia of ambiguous lineage' http://purl.obolibrary.org/obo/MONDO_0037748 hyperlipoproteinemia 'hyperlipoproteinemia' SubClassOf 'nutritional or metabolic disease' 'hyperlipoproteinemia' SubClassOf 'metabolic disease' http://purl.obolibrary.org/obo/MONDO_0037745 fibromyxoid tumor 'fibromyxoid tumor' SubClassOf 'Soft Tissue Neoplasm' http://purl.obolibrary.org/obo/MONDO_0037746 malignant vaginal mixed epithelial and mesenchymal neoplasm 'malignant vaginal mixed epithelial and mesenchymal neoplasm' SubClassOf 'vaginal cancer' 'malignant vaginal mixed epithelial and mesenchymal neoplasm' SubClassOf 'Malignant Mixed Neoplasm' http://purl.obolibrary.org/obo/MONDO_0037747 spinal injury 'spinal injury' SubClassOf 'injury' 'spinal injury' SubClassOf 'vertebral column disease' http://purl.obolibrary.org/obo/MONDO_0037735 sebaceous gland cancer 'sebaceous gland cancer' SubClassOf 'skin cancer' 'sebaceous gland cancer' SubClassOf 'sebaceous gland neoplasm' http://purl.obolibrary.org/obo/MONDO_0037736 infratentorial neoplasm 'infratentorial neoplasm' SubClassOf 'brain neoplasm' http://purl.obolibrary.org/obo/UBERON_2001850 ceratohyal-branchiostegal ray joint 'ceratohyal-branchiostegal ray joint' SubClassOf 'skeletal joint' http://purl.obolibrary.org/obo/UBERON_2001852 postcleithrum 1 'postcleithrum 1' SubClassOf 'postcleithrum' http://purl.obolibrary.org/obo/UBERON_2001853 postcleithrum 2 'postcleithrum 2' SubClassOf 'postcleithrum' http://purl.obolibrary.org/obo/UBERON_2001854 postcleithrum 3 'postcleithrum 3' SubClassOf 'postcleithrum' http://purl.obolibrary.org/obo/UBERON_2001856 gill ray 'gill ray' SubClassOf 'pharyngeal arch cartilage' http://purl.obolibrary.org/obo/UBERON_2001857 hyoidean artery 'hyoidean artery' SubClassOf 'respiratory system artery' http://purl.obolibrary.org/obo/UBERON_2001858 suprapharyngobranchial 'suprapharyngobranchial' SubClassOf 'pharyngobranchial bone' http://purl.obolibrary.org/obo/UBERON_2001859 pharyngobranchial 1 tooth plate 'pharyngobranchial 1 tooth plate' SubClassOf 'pharyngobranchial tooth plate' http://purl.obolibrary.org/obo/MONDO_0023113 familial colorectal cancer 'familial colorectal cancer' SubClassOf 'colorectal cancer' 'familial colorectal cancer' SubClassOf 'Genetic digestive tract tumor' 'familial colorectal cancer' EquivalentTo 'colorectal cancer' and ('has modifier' some 'inherited') http://purl.obolibrary.org/obo/UBERON_2001841 interhyal-epihyal joint 'interhyal-epihyal joint' SubClassOf 'skeletal joint' http://purl.obolibrary.org/obo/UBERON_2001842 epihyal-ceratohyal joint 'epihyal-ceratohyal joint' SubClassOf 'skeletal joint' http://purl.obolibrary.org/obo/UBERON_2001843 ceratohyal-dorsal hypohyal joint 'ceratohyal-dorsal hypohyal joint' SubClassOf 'skeletal joint' http://purl.obolibrary.org/obo/UBERON_2001844 ceratohyal-ventral hypohyal joint 'ceratohyal-ventral hypohyal joint' SubClassOf 'skeletal joint' http://purl.obolibrary.org/obo/UBERON_2001845 dorsal hypohyal-ventral hypohyal joint 'dorsal hypohyal-ventral hypohyal joint' SubClassOf 'skeletal joint' http://purl.obolibrary.org/obo/UBERON_2001846 inter-ventral hypohyal joint 'inter-ventral hypohyal joint' SubClassOf 'skeletal joint' http://purl.obolibrary.org/obo/UBERON_2001847 dorsal hypohyal-urohyal joint 'dorsal hypohyal-urohyal joint' SubClassOf 'skeletal joint' http://purl.obolibrary.org/obo/UBERON_2001848 ventral hypohyal-urohyal joint 'ventral hypohyal-urohyal joint' SubClassOf 'skeletal joint' http://purl.obolibrary.org/obo/UBERON_2001849 epihyal-branchiostegal ray joint 'epihyal-branchiostegal ray joint' SubClassOf 'skeletal joint' http://purl.obolibrary.org/obo/MONDO_0023149 infection due to clostridium perfringens 'infection due to clostridium perfringens' SubClassOf 'commensal Clostridium infectious disease' 'infection due to clostridium perfringens' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0011153 hyperinsulinemic hypoglycemia, familial, 2 'hyperinsulinemic hypoglycemia, familial, 2' SubClassOf 'hyperinsulinemic hypoglycemia' 'hyperinsulinemic hypoglycemia, familial, 2' SubClassOf 'Congenital isolated hyperinsulinism' http://purl.obolibrary.org/obo/UBERON_2001830 caudal fin ventral procurrent ray 'caudal fin ventral procurrent ray' SubClassOf 'caudal procurrent ray' http://purl.obolibrary.org/obo/UBERON_2001831 pterosphenoid-orbitosphenoid joint 'pterosphenoid-orbitosphenoid joint' SubClassOf 'skeletal joint' http://purl.obolibrary.org/obo/UBERON_2001832 parasphenoid-basioccipital joint 'parasphenoid-basioccipital joint' SubClassOf 'skeletal joint' http://purl.obolibrary.org/obo/UBERON_2001820 posterior nuchal plate 'posterior nuchal plate' SubClassOf 'endochondral bone' 'posterior nuchal plate' SubClassOf 'bone of dorsum' 'posterior nuchal plate' SubClassOf 'nuchal plate' 'posterior nuchal plate' SubClassOf 'fin bone' http://purl.obolibrary.org/obo/UBERON_2001824 lateral line scale 'lateral line scale' SubClassOf 'dermal scale' http://purl.obolibrary.org/obo/UBERON_2001827 premaxillary-maxillary ligament 'premaxillary-maxillary ligament' SubClassOf 'skeletal ligament' http://purl.obolibrary.org/obo/UBERON_2001828 primordial ligament 'primordial ligament' SubClassOf 'skeletal ligament' http://purl.obolibrary.org/obo/UBERON_2001829 caudal fin dorsal procurrent ray 'caudal fin dorsal procurrent ray' SubClassOf 'caudal procurrent ray' http://purl.obolibrary.org/obo/UBERON_2001770 anal fin ray 2 'anal fin ray 2' SubClassOf 'anal fin ray' http://purl.obolibrary.org/obo/UBERON_2001771 anal fin ray 3 'anal fin ray 3' SubClassOf 'anal fin ray' http://purl.obolibrary.org/obo/UBERON_2001772 anal fin ray 4 'anal fin ray 4' SubClassOf 'anal fin ray' http://purl.obolibrary.org/obo/UBERON_2001773 anal fin ray 5 'anal fin ray 5' SubClassOf 'anal fin ray' http://purl.obolibrary.org/obo/UBERON_2001774 anal fin ray 6 'anal fin ray 6' SubClassOf 'anal fin ray' http://purl.obolibrary.org/obo/UBERON_2001775 anal fin ray 7 'anal fin ray 7' SubClassOf 'anal fin ray' http://purl.obolibrary.org/obo/UBERON_2001776 pelvic fin ray 1 'pelvic fin ray 1' SubClassOf 'pelvic fin ray' http://purl.obolibrary.org/obo/UBERON_2001777 pelvic fin ray 2 'pelvic fin ray 2' SubClassOf 'pelvic fin ray' http://purl.obolibrary.org/obo/UBERON_2001778 pelvic fin ray 3 'pelvic fin ray 3' SubClassOf 'pelvic fin ray' http://purl.obolibrary.org/obo/UBERON_2001779 pelvic fin ray 4 'pelvic fin ray 4' SubClassOf 'pelvic fin ray' http://purl.obolibrary.org/obo/UBERON_2001760 dorsal fin ray 7 'dorsal fin ray 7' SubClassOf 'dorsal fin ray' http://purl.obolibrary.org/obo/UBERON_2001761 pectoral fin ray 1 'pectoral fin ray 1' SubClassOf 'pectoral fin ray' http://purl.obolibrary.org/obo/UBERON_2001762 pectoral fin ray 2 'pectoral fin ray 2' SubClassOf 'pectoral fin ray' http://purl.obolibrary.org/obo/UBERON_2001763 pectoral fin ray 3 'pectoral fin ray 3' SubClassOf 'pectoral fin ray' http://purl.obolibrary.org/obo/UBERON_2001764 pectoral fin ray 4 'pectoral fin ray 4' SubClassOf 'pectoral fin ray' http://purl.obolibrary.org/obo/UBERON_2001765 pectoral fin ray 5 'pectoral fin ray 5' SubClassOf 'pectoral fin ray' http://purl.obolibrary.org/obo/UBERON_2001766 pectoral fin ray 6 'pectoral fin ray 6' SubClassOf 'pectoral fin ray' http://purl.obolibrary.org/obo/UBERON_2001767 pectoral fin ray 7 'pectoral fin ray 7' SubClassOf 'pectoral fin ray' http://purl.obolibrary.org/obo/UBERON_2001768 retractor tentaculi 'retractor tentaculi' SubClassOf 'cranial muscle' http://purl.obolibrary.org/obo/UBERON_2001769 anal fin ray 1 'anal fin ray 1' SubClassOf 'anal fin ray' http://purl.obolibrary.org/obo/UBERON_2001750 rib of vertebra 6 'rib of vertebra 6' SubClassOf 'rib' http://purl.obolibrary.org/obo/UBERON_2001751 rib of vertebra 5 'rib of vertebra 5' SubClassOf 'rib' http://purl.obolibrary.org/obo/UBERON_2001752 pre-narial cartilage 'pre-narial cartilage' SubClassOf 'cartilage element of chondrocranium' http://purl.obolibrary.org/obo/UBERON_2001754 dorsal fin ray 1 'dorsal fin ray 1' SubClassOf 'dorsal fin ray' http://purl.obolibrary.org/obo/UBERON_2001755 dorsal fin ray 2 'dorsal fin ray 2' SubClassOf 'dorsal fin ray' http://purl.obolibrary.org/obo/UBERON_2001756 dorsal fin ray 3 'dorsal fin ray 3' SubClassOf 'dorsal fin ray' http://purl.obolibrary.org/obo/UBERON_2001757 dorsal fin ray 4 'dorsal fin ray 4' SubClassOf 'dorsal fin ray' http://purl.obolibrary.org/obo/UBERON_2001758 dorsal fin ray 5 'dorsal fin ray 5' SubClassOf 'dorsal fin ray' http://purl.obolibrary.org/obo/UBERON_2001759 dorsal fin ray 6 'dorsal fin ray 6' SubClassOf 'dorsal fin ray' http://purl.obolibrary.org/obo/UBERON_3000088 cavum praenasale 'cavum praenasale' SubClassOf 'nasal cavity' http://purl.obolibrary.org/obo/UBERON_3000089 cavum principale 'cavum principale' SubClassOf 'nasal cavity' http://purl.obolibrary.org/obo/UBERON_3000086 cavum internasale 'cavum internasale' SubClassOf 'nasal cavity' http://purl.obolibrary.org/obo/UBERON_3000087 cavum medius 'cavum medius' SubClassOf 'nasal cavity' http://purl.obolibrary.org/obo/UBERON_3000085 cavum inferius 'cavum inferius' SubClassOf 'nasal cavity' http://purl.obolibrary.org/obo/UBERON_2001749 dentary-anguloarticular joint 'dentary-anguloarticular joint' SubClassOf 'skeletal joint' http://purl.obolibrary.org/obo/UBERON_2001790 dorsal fin spine 2 'dorsal fin spine 2' SubClassOf 'dorsal fin spine' http://purl.obolibrary.org/obo/UBERON_2001794 orbitosphenoid-prootic joint 'orbitosphenoid-prootic joint' SubClassOf 'skeletal joint' http://purl.obolibrary.org/obo/UBERON_2001798 epicentral bone 'epicentral bone' SubClassOf 'intermuscular bone' http://purl.obolibrary.org/obo/UBERON_2001780 pelvic fin ray 5 'pelvic fin ray 5' SubClassOf 'pelvic fin ray' http://purl.obolibrary.org/obo/UBERON_2001781 pelvic fin ray 6 'pelvic fin ray 6' SubClassOf 'pelvic fin ray' http://purl.obolibrary.org/obo/UBERON_2001782 pelvic fin ray 7 'pelvic fin ray 7' SubClassOf 'pelvic fin ray' http://purl.obolibrary.org/obo/UBERON_2001784 autopalatine-vomer joint 'autopalatine-vomer joint' SubClassOf 'skeletal joint' http://purl.obolibrary.org/obo/UBERON_2001785 branched dorsal fin ray 'branched dorsal fin ray' SubClassOf 'dorsal fin ray' http://purl.obolibrary.org/obo/UBERON_2001786 unbranched dorsal fin ray 'unbranched dorsal fin ray' SubClassOf 'dorsal fin ray' http://purl.obolibrary.org/obo/UBERON_2001787 pectoral fin spine 'pectoral fin spine' SubClassOf 'pectoral fin lepidotrichium' 'pectoral fin spine' SubClassOf 'paired fin spine' http://purl.obolibrary.org/obo/UBERON_2001788 pelvic splint 'pelvic splint' SubClassOf 'bone of pelvic complex' 'pelvic splint' SubClassOf 'dermal bone' 'pelvic splint' SubClassOf 'fin bone' 'pelvic splint' SubClassOf 'bone of free limb or fin' http://purl.obolibrary.org/obo/UBERON_2001789 dorsal fin spine 1 'dorsal fin spine 1' SubClassOf 'dorsal fin spine' http://purl.obolibrary.org/obo/UBERON_0007842 membrane bone 'membrane bone' SubClassOf 'bone' http://purl.obolibrary.org/obo/UBERON_0007841 furcula 'furcula' SubClassOf 'dermal bone' 'furcula' SubClassOf 'pectoral girdle bone' http://purl.obolibrary.org/obo/UBERON_0005204 larynx submucosa gland 'larynx submucosa gland' SubClassOf 'respiratory system gland' http://purl.obolibrary.org/obo/UBERON_0005202 distal straight tubule macula densa 'distal straight tubule macula densa' SubClassOf 'macula densa' http://purl.obolibrary.org/obo/UBERON_0005203 trachea gland 'trachea gland' SubClassOf 'submucosal gland' http://purl.obolibrary.org/obo/UBERON_0005200 thoracic mammary gland 'thoracic mammary gland' SubClassOf 'mammary gland' http://purl.obolibrary.org/obo/UBERON_0005216 optic eminence surface ectoderm 'optic eminence surface ectoderm' SubClassOf 'external ectoderm' http://purl.obolibrary.org/obo/UBERON_0007807 connecting stalk vasculature 'connecting stalk vasculature' SubClassOf 'vasculature' http://purl.obolibrary.org/obo/UBERON_0007805 synsacrum 'synsacrum' SubClassOf 'bone' http://purl.obolibrary.org/obo/UBERON_0007802 uropygial gland 'uropygial gland' SubClassOf 'exocrine gland' http://purl.obolibrary.org/obo/UBERON_0007801 pygostyle 'pygostyle' SubClassOf 'bone' http://purl.obolibrary.org/obo/UBERON_0007800 proatlas 'proatlas' SubClassOf 'cervical vertebra' http://purl.obolibrary.org/obo/UBERON_0007812 post-anal tail 'post-anal tail' SubClassOf 'tail' http://purl.obolibrary.org/obo/UBERON_0007829 pectoral girdle bone 'pectoral girdle bone' SubClassOf 'girdle bone/zone' 'pectoral girdle bone' SubClassOf 'bone of pectoral complex' http://purl.obolibrary.org/obo/UBERON_0007828 girdle bone/zone 'girdle bone/zone' SubClassOf 'bone of appendage girdle complex' http://purl.obolibrary.org/obo/UBERON_0007826 peritoneal mesentery 'peritoneal mesentery' SubClassOf 'peritoneum' http://purl.obolibrary.org/obo/UBERON_3000032 auditory muscles 'auditory muscles' SubClassOf 'cranial muscle' http://purl.obolibrary.org/obo/UBERON_0007830 pelvic girdle bone/zone 'pelvic girdle bone/zone' SubClassOf 'girdle bone/zone' 'pelvic girdle bone/zone' SubClassOf 'bone of pelvic complex' 'pelvic girdle bone/zone' SubClassOf 'abdominal segment bone' http://purl.obolibrary.org/obo/UBERON_4300003 urodermal bone 'urodermal bone' SubClassOf 'fin bone' 'urodermal bone' SubClassOf 'dermal bone' http://purl.obolibrary.org/obo/UBERON_0005268 renal cortex artery 'renal cortex artery' SubClassOf 'kidney arterial blood vessel' 'renal cortex artery' SubClassOf 'artery' http://purl.obolibrary.org/obo/UBERON_0005269 renal cortex vein 'renal cortex vein' SubClassOf 'renal venous blood vessel' 'renal cortex vein' SubClassOf 'vein of abdomen' http://purl.obolibrary.org/obo/UBERON_4300014 dorsal cleithrum 'dorsal cleithrum' SubClassOf 'pectoral girdle bone' 'dorsal cleithrum' SubClassOf 'dermal bone' http://purl.obolibrary.org/obo/UBERON_4300012 clavus 'clavus' SubClassOf 'appendage' http://purl.obolibrary.org/obo/UBERON_0005275 dorsal skin of digit 'dorsal skin of digit' SubClassOf 'digit skin' http://purl.obolibrary.org/obo/UBERON_0005276 dorsal skin of finger 'dorsal skin of finger' SubClassOf 'manual digit skin' 'dorsal skin of finger' SubClassOf 'dorsal skin of digit' http://purl.obolibrary.org/obo/UBERON_0005273 nail bed 'nail bed' SubClassOf 'dorsal skin of digit' http://purl.obolibrary.org/obo/UBERON_0005274 proximal nail bed 'proximal nail bed' SubClassOf 'dorsal skin of digit' http://purl.obolibrary.org/obo/UBERON_0005272 peritubular capillary 'peritubular capillary' SubClassOf 'kidney capillary' http://purl.obolibrary.org/obo/UBERON_4300017 rostrodermethmoid 'rostrodermethmoid' SubClassOf 'bone of upper jaw' 'rostrodermethmoid' SubClassOf 'dermal bone' 'rostrodermethmoid' SubClassOf 'neurocranium bone' http://purl.obolibrary.org/obo/UBERON_4300015 ventral cleithrum 'ventral cleithrum' SubClassOf 'pectoral girdle bone' 'ventral cleithrum' SubClassOf 'dermal bone' http://purl.obolibrary.org/obo/UBERON_0005279 nail bed of toe 'nail bed of toe' SubClassOf 'nail bed' 'nail bed of toe' SubClassOf 'dorsal skin of toe' http://purl.obolibrary.org/obo/UBERON_0005277 dorsal skin of toe 'dorsal skin of toe' SubClassOf 'pedal digit skin' 'dorsal skin of toe' SubClassOf 'dorsal skin of digit' http://purl.obolibrary.org/obo/UBERON_0005278 nail bed of finger 'nail bed of finger' SubClassOf 'dorsal skin of finger' 'nail bed of finger' SubClassOf 'nail bed' http://purl.obolibrary.org/obo/UBERON_0017271 upper primary premolar tooth 'upper primary premolar tooth' SubClassOf 'primary upper tooth' 'upper primary premolar tooth' SubClassOf 'primary premolar tooth' 'upper primary premolar tooth' SubClassOf 'upper premolar tooth' http://purl.obolibrary.org/obo/UBERON_0017270 secondary premolar tooth 'secondary premolar tooth' SubClassOf 'premolar tooth' 'secondary premolar tooth' SubClassOf 'secondary tooth' http://purl.obolibrary.org/obo/UBERON_0017272 lower primary premolar tooth 'lower primary premolar tooth' SubClassOf 'primary lower tooth' 'lower primary premolar tooth' SubClassOf 'lower premolar tooth' 'lower primary premolar tooth' SubClassOf 'primary premolar tooth' http://purl.obolibrary.org/obo/UBERON_0005282 ventricular system of brain 'ventricular system of brain' SubClassOf 'anatomical system' http://purl.obolibrary.org/obo/UBERON_0017269 primary premolar tooth 'primary premolar tooth' SubClassOf 'deciduous tooth' 'primary premolar tooth' SubClassOf 'premolar tooth' http://purl.obolibrary.org/obo/UBERON_0005297 testis sex cord 'testis sex cord' SubClassOf 'epithelium of male gonad' 'testis sex cord' SubClassOf 'sex cord' http://purl.obolibrary.org/obo/UBERON_0005298 skin of clitoris 'skin of clitoris' SubClassOf 'zone of skin' http://purl.obolibrary.org/obo/UBERON_0005295 sex cord 'sex cord' SubClassOf 'meso-epithelium' 'sex cord' SubClassOf 'epithelial cord' http://purl.obolibrary.org/obo/UBERON_0005296 ovary sex cord 'ovary sex cord' SubClassOf 'epithelium of female gonad' 'ovary sex cord' SubClassOf 'sex cord' http://purl.obolibrary.org/obo/UBERON_0005294 gonadal ridge 'gonadal ridge' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0005228 upper arm epithelium 'upper arm epithelium' SubClassOf 'ecto-epithelium' http://purl.obolibrary.org/obo/UBERON_0005229 lower leg epithelium 'lower leg epithelium' SubClassOf 'ecto-epithelium' http://purl.obolibrary.org/obo/UBERON_0005226 pedal digit epithelium 'pedal digit epithelium' SubClassOf 'unilaminar epithelium' 'pedal digit epithelium' SubClassOf 'ecto-epithelium' http://purl.obolibrary.org/obo/UBERON_0005227 manual digit epithelium 'manual digit epithelium' SubClassOf 'ecto-epithelium' 'manual digit epithelium' SubClassOf 'unilaminar epithelium' http://purl.obolibrary.org/obo/UBERON_0005225 upper leg epithelium 'upper leg epithelium' SubClassOf 'ecto-epithelium' http://purl.obolibrary.org/obo/UBERON_0005239 basal plate metencephalon 'basal plate metencephalon' SubClassOf 'neural tube basal plate' http://purl.obolibrary.org/obo/UBERON_0005233 medial-nasal process ectoderm 'medial-nasal process ectoderm' SubClassOf 'frontonasal process epithelium' 'medial-nasal process ectoderm' SubClassOf 'ectoderm' http://purl.obolibrary.org/obo/UBERON_0005234 optic eminence ectoderm 'optic eminence ectoderm' SubClassOf 'ectoderm' http://purl.obolibrary.org/obo/UBERON_4300021 anterolateral plate 'anterolateral plate' SubClassOf 'dermal bone' 'anterolateral plate' SubClassOf 'pectoral girdle bone' http://purl.obolibrary.org/obo/UBERON_4300025 posterior dorsolateral plate 'posterior dorsolateral plate' SubClassOf 'dermal bone' 'posterior dorsolateral plate' SubClassOf 'pectoral girdle bone' http://purl.obolibrary.org/obo/UBERON_4300024 spinal plate 'spinal plate' SubClassOf 'dermal bone' 'spinal plate' SubClassOf 'pectoral girdle bone' http://purl.obolibrary.org/obo/UBERON_4300023 interolateral plate 'interolateral plate' SubClassOf 'dermal bone' 'interolateral plate' SubClassOf 'pectoral girdle bone' http://purl.obolibrary.org/obo/UBERON_4300022 anteroventral plate 'anteroventral plate' SubClassOf 'pectoral girdle bone' 'anteroventral plate' SubClassOf 'dermal bone' http://purl.obolibrary.org/obo/UBERON_0005243 interventricular septum endocardium 'interventricular septum endocardium' SubClassOf 'endocardium' http://purl.obolibrary.org/obo/UBERON_0005240 basal plate medulla oblongata 'basal plate medulla oblongata' SubClassOf 'neural tube basal plate' http://purl.obolibrary.org/obo/UBERON_4300029 dermal neck joint 'dermal neck joint' SubClassOf 'skeletal joint' http://purl.obolibrary.org/obo/UBERON_4300028 posterior ventrolateral plate 'posterior ventrolateral plate' SubClassOf 'dermal bone' 'posterior ventrolateral plate' SubClassOf 'pectoral girdle bone' http://purl.obolibrary.org/obo/UBERON_0005248 bulbus cordis myocardium 'bulbus cordis myocardium' SubClassOf 'myocardium' http://purl.obolibrary.org/obo/UBERON_4300026 anterior ventrolateral plate 'anterior ventrolateral plate' SubClassOf 'dermal bone' 'anterior ventrolateral plate' SubClassOf 'pectoral girdle bone' http://purl.obolibrary.org/obo/UBERON_0005244 lobar bronchus of right lung cranial lobe 'lobar bronchus of right lung cranial lobe' SubClassOf 'lobar bronchus of right lung' http://purl.obolibrary.org/obo/MONDO_0001639 deficiency anemia 'deficiency anemia' SubClassOf 'anemia (disease)' http://purl.obolibrary.org/obo/UBERON_0005245 lobar bronchus of right lung caudal lobe 'lobar bronchus of right lung caudal lobe' SubClassOf 'lobar bronchus of right lung' http://purl.obolibrary.org/obo/MONDO_0001641 severe pre-eclampsia 'severe pre-eclampsia' SubClassOf 'preeclampsia' http://purl.obolibrary.org/obo/UBERON_4300031 fin web 'fin web' SubClassOf 'zone of skin' http://purl.obolibrary.org/obo/UBERON_4300030 flexor caudalis muscle 'flexor caudalis muscle' SubClassOf 'skeletal muscle organ' http://purl.obolibrary.org/obo/UBERON_4300034 antorbital cartilage 'antorbital cartilage' SubClassOf 'cartilage element of chondrocranium' http://purl.obolibrary.org/obo/MONDO_0013626 psoriasis 14, pustular 'psoriasis 14, pustular' SubClassOf 'psoriasis' 'psoriasis 14, pustular' SubClassOf 'genetic skin disease' http://purl.obolibrary.org/obo/UBERON_0005250 stomatodeum gland 'stomatodeum gland' SubClassOf 'gland' http://purl.obolibrary.org/obo/UBERON_4300037 bony fin ray 'bony fin ray' SubClassOf 'fin bone' http://purl.obolibrary.org/obo/MONDO_0001657 brain cancer 'brain cancer' SubClassOf 'brain neoplasm' 'brain cancer' SubClassOf 'central nervous system cancer' http://purl.obolibrary.org/obo/MONDO_0001674 diverticulitis of colon 'diverticulitis of colon' SubClassOf 'colonic disease' 'diverticulitis of colon' SubClassOf 'diverticulitis' http://purl.obolibrary.org/obo/MONDO_0001673 diarrheal disease 'diarrheal disease' SubClassOf 'digestive system disease' http://purl.obolibrary.org/obo/MONDO_0001672 bronchus cancer 'bronchus cancer' SubClassOf 'respiratory system cancer' 'bronchus cancer' SubClassOf 'thoracic cancer' 'bronchus cancer' SubClassOf 'bronchial neoplasm (disease)' http://purl.obolibrary.org/obo/MONDO_0001684 exocrine pancreatic insufficiency 'exocrine pancreatic insufficiency' SubClassOf 'pancreas disease' http://purl.obolibrary.org/obo/MONDO_0001697 reading disorder 'reading disorder' SubClassOf 'learning disability' http://purl.obolibrary.org/obo/UBERON_2001730 caudal principal ray 18 'caudal principal ray 18' SubClassOf 'caudal principal ray' http://purl.obolibrary.org/obo/UBERON_2001731 caudal principal ray 19 'caudal principal ray 19' SubClassOf 'caudal principal ray' http://purl.obolibrary.org/obo/UBERON_2001720 caudal principal ray 8 'caudal principal ray 8' SubClassOf 'caudal principal ray' http://purl.obolibrary.org/obo/MONDO_0011024 dermatitis herpetiformis, familial 'dermatitis herpetiformis, familial' EquivalentTo 'dermatitis herpetiformis' and ('has modifier' some 'inherited') 'dermatitis herpetiformis, familial' SubClassOf 'genetic skin disease' 'dermatitis herpetiformis, familial' SubClassOf 'dermatitis herpetiformis' http://purl.obolibrary.org/obo/UBERON_2001721 caudal principal ray 9 'caudal principal ray 9' SubClassOf 'caudal principal ray' http://purl.obolibrary.org/obo/UBERON_2001722 caudal principal ray 10 'caudal principal ray 10' SubClassOf 'caudal principal ray' http://purl.obolibrary.org/obo/MONDO_0011026 autosomal recessive congenital ichthyosis 4A 'autosomal recessive congenital ichthyosis 4A' SubClassOf 'Autosomal recessive congenital ichthyosis' 'autosomal recessive congenital ichthyosis 4A' SubClassOf 'Lamellar ichthyosis' http://purl.obolibrary.org/obo/UBERON_2001723 caudal principal ray 11 'caudal principal ray 11' SubClassOf 'caudal principal ray' http://purl.obolibrary.org/obo/UBERON_2001724 caudal principal ray 12 'caudal principal ray 12' SubClassOf 'caudal principal ray' http://purl.obolibrary.org/obo/UBERON_2001725 caudal principal ray 13 'caudal principal ray 13' SubClassOf 'caudal principal ray' http://purl.obolibrary.org/obo/UBERON_2001726 caudal principal ray 14 'caudal principal ray 14' SubClassOf 'caudal principal ray' http://purl.obolibrary.org/obo/UBERON_2001727 caudal principal ray 15 'caudal principal ray 15' SubClassOf 'caudal principal ray' http://purl.obolibrary.org/obo/UBERON_2001728 caudal principal ray 16 'caudal principal ray 16' SubClassOf 'caudal principal ray' http://purl.obolibrary.org/obo/UBERON_2001729 caudal principal ray 17 'caudal principal ray 17' SubClassOf 'caudal principal ray' http://purl.obolibrary.org/obo/UBERON_2001710 opercle-interopercle joint 'opercle-interopercle joint' SubClassOf 'skeletal joint' http://purl.obolibrary.org/obo/UBERON_2001711 frontal-pterotic joint 'frontal-pterotic joint' SubClassOf 'skeletal joint' http://purl.obolibrary.org/obo/UBERON_2001713 caudal principal ray 1 'caudal principal ray 1' SubClassOf 'caudal principal ray' http://purl.obolibrary.org/obo/UBERON_2001714 caudal principal ray 2 'caudal principal ray 2' SubClassOf 'caudal principal ray' http://purl.obolibrary.org/obo/UBERON_2001715 caudal principal ray 3 'caudal principal ray 3' SubClassOf 'caudal principal ray' http://purl.obolibrary.org/obo/UBERON_2001716 caudal principal ray 4 'caudal principal ray 4' SubClassOf 'caudal principal ray' http://purl.obolibrary.org/obo/UBERON_2001717 caudal principal ray 5 'caudal principal ray 5' SubClassOf 'caudal principal ray' http://purl.obolibrary.org/obo/UBERON_2001718 caudal principal ray 6 'caudal principal ray 6' SubClassOf 'caudal principal ray' http://purl.obolibrary.org/obo/UBERON_2001719 caudal principal ray 7 'caudal principal ray 7' SubClassOf 'caudal principal ray' http://purl.obolibrary.org/obo/UBERON_2001700 caudal-fin stay 'caudal-fin stay' SubClassOf 'fin bone' 'caudal-fin stay' SubClassOf 'dermal bone' http://purl.obolibrary.org/obo/UBERON_2001701 basibranchial 5 bone 'basibranchial 5 bone' SubClassOf 'endochondral bone' 'basibranchial 5 bone' SubClassOf 'basibranchial bone' http://purl.obolibrary.org/obo/UBERON_2001702 infraorbital 7 'infraorbital 7' SubClassOf 'infraorbital' http://purl.obolibrary.org/obo/UBERON_2001703 infraorbital 8 'infraorbital 8' SubClassOf 'infraorbital' http://purl.obolibrary.org/obo/UBERON_2001704 infraorbital 9 'infraorbital 9' SubClassOf 'infraorbital' http://purl.obolibrary.org/obo/UBERON_2001705 infraorbital 10 'infraorbital 10' SubClassOf 'infraorbital' http://purl.obolibrary.org/obo/UBERON_2001706 infraorbital 11 'infraorbital 11' SubClassOf 'infraorbital' http://purl.obolibrary.org/obo/UBERON_2001707 infraorbital 12 'infraorbital 12' SubClassOf 'infraorbital' http://purl.obolibrary.org/obo/UBERON_2001708 dermosphenotic 'dermosphenotic' SubClassOf 'neurocranium bone' 'dermosphenotic' SubClassOf 'infraorbital' http://purl.obolibrary.org/obo/MONDO_0001493 chronic pulmonary heart disease 'chronic pulmonary heart disease' SubClassOf 'cor pulmonale' http://purl.obolibrary.org/obo/UBERON_0003309 floor plate of diencephalon 'floor plate of diencephalon' SubClassOf 'floor plate of neural tube' http://purl.obolibrary.org/obo/UBERON_0003308 floor plate of telencephalon 'floor plate of telencephalon' SubClassOf 'floor plate of neural tube' http://purl.obolibrary.org/obo/UBERON_0005967 conotruncal ridge 'conotruncal ridge' SubClassOf 'trunk mesenchyme' http://purl.obolibrary.org/obo/MONDO_0025481 zoonoses 'zoonoses' SubClassOf 'parasitic infection' 'zoonoses' SubClassOf 'viral disease' 'zoonoses' SubClassOf 'animal disease' http://purl.obolibrary.org/obo/MONDO_0025484 simian acquired immunodeficiency syndrome 'simian acquired immunodeficiency syndrome' SubClassOf 'disease arises from feature' some 'simian immunodeficiency virus infection' 'simian acquired immunodeficiency syndrome' EquivalentTo 'immune system disease' and ('disease arises from feature' some 'simian immunodeficiency virus infection') 'simian acquired immunodeficiency syndrome' SubClassOf 'post-viral disorder' 'simian acquired immunodeficiency syndrome' SubClassOf 'monkey disease' 'simian acquired immunodeficiency syndrome' SubClassOf 'immune system disease' http://purl.obolibrary.org/obo/UBERON_0003304 mesoderm blood island 'mesoderm blood island' SubClassOf 'meso-epithelium' 'mesoderm blood island' SubClassOf 'blood island' 'mesoderm blood island' SubClassOf 'epithelial vesicle' http://purl.obolibrary.org/obo/UBERON_0003317 odontogenic papilla of incisor 'odontogenic papilla of incisor' SubClassOf 'odontogenic papilla' http://purl.obolibrary.org/obo/UBERON_0003316 mesenchyme of yolk sac 'mesenchyme of yolk sac' SubClassOf 'extraembryonic membrane mesenchyme' http://purl.obolibrary.org/obo/UBERON_0003314 eye mesenchyme 'eye mesenchyme' SubClassOf 'facial mesenchyme' 'eye mesenchyme' SubClassOf 'mesenchyme derived from head neural crest' http://purl.obolibrary.org/obo/UBERON_0005975 hair follicle bulge 'hair follicle bulge' SubClassOf 'skin epithelium' http://purl.obolibrary.org/obo/UBERON_0005973 blood-inner ear barrier 'blood-inner ear barrier' SubClassOf 'head blood vessel' http://purl.obolibrary.org/obo/UBERON_0003311 floor plate of medulla oblongata 'floor plate of medulla oblongata' SubClassOf 'floor plate of neural tube' http://purl.obolibrary.org/obo/UBERON_0003310 floor plate of metencephalon 'floor plate of metencephalon' SubClassOf 'floor plate of neural tube' http://purl.obolibrary.org/obo/UBERON_0005919 supreme nasal concha 'supreme nasal concha' SubClassOf 'nasal concha of ethmoid bone' http://purl.obolibrary.org/obo/UBERON_0005912 transitional epithelium of major calyx 'transitional epithelium of major calyx' SubClassOf 'epithelium of mucosa' 'transitional epithelium of major calyx' SubClassOf 'kidney pelvis urothelium' 'transitional epithelium of major calyx' SubClassOf 'urothelium of ureter' http://purl.obolibrary.org/obo/UBERON_2001201 ventral lateral mesoderm 'ventral lateral mesoderm' SubClassOf 'ventral mesoderm' http://purl.obolibrary.org/obo/UBERON_0005911 endo-epithelium 'endo-epithelium' SubClassOf 'epithelium' http://purl.obolibrary.org/obo/UBERON_0005921 middle nasal concha 'middle nasal concha' SubClassOf 'nasal concha of ethmoid bone' http://purl.obolibrary.org/obo/UBERON_0005922 inferior nasal concha 'inferior nasal concha' SubClassOf 'facial bone' 'inferior nasal concha' SubClassOf 'turbinate bone' 'inferior nasal concha' SubClassOf 'irregular bone' http://purl.obolibrary.org/obo/UBERON_0005920 superior nasal concha 'superior nasal concha' SubClassOf 'nasal concha of ethmoid bone' http://purl.obolibrary.org/obo/UBERON_0015350 saphenous artery 'saphenous artery' SubClassOf 'artery' http://purl.obolibrary.org/obo/UBERON_2001250 pharyngobranchial 2 bone 'pharyngobranchial 2 bone' SubClassOf 'pharyngobranchial bone' http://purl.obolibrary.org/obo/UBERON_2001251 pharyngobranchial 4 cartilage 'pharyngobranchial 4 cartilage' SubClassOf 'pharyngobranchial cartilage' http://purl.obolibrary.org/obo/UBERON_2001252 pharyngobranchial 3 bone 'pharyngobranchial 3 bone' SubClassOf 'pharyngobranchial bone' http://purl.obolibrary.org/obo/UBERON_2001253 neural arch 2 'neural arch 2' SubClassOf 'neural arch' http://purl.obolibrary.org/obo/UBERON_0003360 epithelium of parotid gland 'epithelium of parotid gland' SubClassOf 'epithelium of lower jaw' 'epithelium of parotid gland' SubClassOf 'salivary gland epithelium' http://purl.obolibrary.org/obo/UBERON_0003362 epithelium of endolymphatic duct 'epithelium of endolymphatic duct' SubClassOf 'inner ear epithelium' http://purl.obolibrary.org/obo/UBERON_0003361 epithelium of sublingual gland 'epithelium of sublingual gland' SubClassOf 'salivary gland epithelium' http://purl.obolibrary.org/obo/UBERON_0003368 epithelium of hard palate 'epithelium of hard palate' SubClassOf 'ecto-epithelium' 'epithelium of hard palate' SubClassOf 'epithelium of upper jaw' http://purl.obolibrary.org/obo/UBERON_0003367 epithelium of vomeronasal organ 'epithelium of vomeronasal organ' SubClassOf 'nose epithelium' 'epithelium of vomeronasal organ' SubClassOf 'unilaminar epithelium' 'epithelium of vomeronasal organ' SubClassOf 'endo-epithelium' http://purl.obolibrary.org/obo/UBERON_0003364 epithelium of right lung 'epithelium of right lung' SubClassOf 'lung epithelium' http://purl.obolibrary.org/obo/UBERON_0003363 epithelium of ductus reuniens 'epithelium of ductus reuniens' SubClassOf 'vestibular epithelium' http://purl.obolibrary.org/obo/UBERON_0003366 epithelium of uterine horn 'epithelium of uterine horn' SubClassOf 'uterine epithelium' http://purl.obolibrary.org/obo/UBERON_0003365 epithelium of left lung 'epithelium of left lung' SubClassOf 'lung epithelium' http://purl.obolibrary.org/obo/UBERON_2001240 ceratobranchial 4 bone 'ceratobranchial 4 bone' SubClassOf 'ceratobranchial bone' http://purl.obolibrary.org/obo/UBERON_2001241 ceratobranchial 3 bone 'ceratobranchial 3 bone' SubClassOf 'ceratobranchial bone' http://purl.obolibrary.org/obo/UBERON_2001242 ceratobranchial 2 bone 'ceratobranchial 2 bone' SubClassOf 'ceratobranchial bone' http://purl.obolibrary.org/obo/UBERON_2001243 epibranchial 1 bone 'epibranchial 1 bone' SubClassOf 'epibranchial bone' http://purl.obolibrary.org/obo/UBERON_2001244 epibranchial 5 cartilage 'epibranchial 5 cartilage' SubClassOf 'epibranchial cartilage' http://purl.obolibrary.org/obo/UBERON_2001245 epibranchial 4 bone 'epibranchial 4 bone' SubClassOf 'epibranchial bone' http://purl.obolibrary.org/obo/UBERON_0003371 pelvic appendage bud ectoderm 'pelvic appendage bud ectoderm' SubClassOf 'ecto-epithelium' 'pelvic appendage bud ectoderm' SubClassOf 'unilaminar epithelium' http://purl.obolibrary.org/obo/UBERON_2001246 epibranchial 2 bone 'epibranchial 2 bone' SubClassOf 'epibranchial bone' http://purl.obolibrary.org/obo/UBERON_2001247 epibranchial 3 bone 'epibranchial 3 bone' SubClassOf 'epibranchial bone' http://purl.obolibrary.org/obo/UBERON_0003373 ectoderm of footplate 'ectoderm of footplate' SubClassOf 'ectoderm' http://purl.obolibrary.org/obo/UBERON_0003372 pectoral appendage bud ectoderm 'pectoral appendage bud ectoderm' SubClassOf 'ecto-epithelium' 'pectoral appendage bud ectoderm' SubClassOf 'unilaminar epithelium' http://purl.obolibrary.org/obo/UBERON_3000591 suprasphenoid 'suprasphenoid' SubClassOf 'endochondral bone' http://purl.obolibrary.org/obo/UBERON_2001233 hypobranchial 1 bone 'hypobranchial 1 bone' SubClassOf 'hypobranchial bone' http://purl.obolibrary.org/obo/UBERON_2001234 hypobranchial 4 bone 'hypobranchial 4 bone' SubClassOf 'hypobranchial bone' http://purl.obolibrary.org/obo/UBERON_2001235 hypobranchial 3 bone 'hypobranchial 3 bone' SubClassOf 'hypobranchial bone' http://purl.obolibrary.org/obo/UBERON_2001236 hypobranchial 2 bone 'hypobranchial 2 bone' SubClassOf 'hypobranchial bone' http://purl.obolibrary.org/obo/UBERON_0003384 skeletal muscle tissue of pharynx 'skeletal muscle tissue of pharynx' SubClassOf 'respiratory system skeletal muscle' http://purl.obolibrary.org/obo/UBERON_2001237 ceratobranchial 1 bone 'ceratobranchial 1 bone' SubClassOf 'ceratobranchial bone' http://purl.obolibrary.org/obo/UBERON_2001239 ceratobranchial 5 bone 'ceratobranchial 5 bone' SubClassOf 'ceratobranchial bone' http://purl.obolibrary.org/obo/UBERON_3000599 taenia tecti marginalis 'taenia tecti marginalis' SubClassOf 'cartilage element of chondrocranium' http://purl.obolibrary.org/obo/UBERON_0003389 mesothelium of diaphragm 'mesothelium of diaphragm' SubClassOf 'respiratory system epithelium' 'mesothelium of diaphragm' SubClassOf 'mesothelium' http://purl.obolibrary.org/obo/UBERON_0003386 smooth muscle of eye 'smooth muscle of eye' SubClassOf 'smooth muscle tissue' http://purl.obolibrary.org/obo/UBERON_0003388 mesothelium of pericardial cavity 'mesothelium of pericardial cavity' SubClassOf 'mesothelium' http://purl.obolibrary.org/obo/UBERON_0003387 smooth muscle of trachea 'smooth muscle of trachea' SubClassOf 'lower respiratory tract smooth muscle' http://purl.obolibrary.org/obo/UBERON_2001220 basibranchial copula 'basibranchial copula' SubClassOf 'pharyngeal arch cartilage' http://purl.obolibrary.org/obo/UBERON_2001221 anterior copula 'anterior copula' SubClassOf 'basibranchial copula' http://purl.obolibrary.org/obo/UBERON_2001222 posterior copula 'posterior copula' SubClassOf 'basibranchial copula' http://purl.obolibrary.org/obo/UBERON_2001223 basibranchial 1 bone 'basibranchial 1 bone' SubClassOf 'endochondral bone' 'basibranchial 1 bone' SubClassOf 'basibranchial bone' http://purl.obolibrary.org/obo/UBERON_2001224 basibranchial 2 bone 'basibranchial 2 bone' SubClassOf 'basibranchial bone' 'basibranchial 2 bone' SubClassOf 'endochondral bone' http://purl.obolibrary.org/obo/UBERON_2001225 basibranchial 3 bone 'basibranchial 3 bone' SubClassOf 'endochondral bone' 'basibranchial 3 bone' SubClassOf 'basibranchial bone' http://purl.obolibrary.org/obo/UBERON_2001226 basibranchial 4 bone 'basibranchial 4 bone' SubClassOf 'endochondral bone' 'basibranchial 4 bone' SubClassOf 'basibranchial bone' http://purl.obolibrary.org/obo/UBERON_0003390 mesothelium of pleural cavity 'mesothelium of pleural cavity' SubClassOf 'mesothelium' http://purl.obolibrary.org/obo/UBERON_0003397 mesentery of duodenum 'mesentery of duodenum' SubClassOf 'mesentery of small intestine' http://purl.obolibrary.org/obo/UBERON_0003396 mesentery of colon 'mesentery of colon' SubClassOf 'peritoneal mesentery' http://purl.obolibrary.org/obo/UBERON_0003398 mesentery of jejunum 'mesentery of jejunum' SubClassOf 'mesentery of small intestine' http://purl.obolibrary.org/obo/UBERON_0003324 mesenchyme of lower jaw 'mesenchyme of lower jaw' SubClassOf 'jaw mesenchyme' http://purl.obolibrary.org/obo/UBERON_0003323 mesenchyme of upper jaw 'mesenchyme of upper jaw' SubClassOf 'facial mesenchyme' 'mesenchyme of upper jaw' SubClassOf 'jaw mesenchyme' http://purl.obolibrary.org/obo/UBERON_0005985 coronary vessel 'coronary vessel' SubClassOf 'vessel' http://purl.obolibrary.org/obo/UBERON_0003325 mesenchyme of pinna 'mesenchyme of pinna' SubClassOf 'head mesenchyme' http://purl.obolibrary.org/obo/UBERON_0003339 ganglion of central nervous system 'ganglion of central nervous system' SubClassOf 'ganglion' http://purl.obolibrary.org/obo/UBERON_0003338 ganglion of peripheral nervous system 'ganglion of peripheral nervous system' SubClassOf 'ganglion' http://purl.obolibrary.org/obo/UBERON_2001274 coronomeckelian 'coronomeckelian' SubClassOf 'ossified tendon' 'coronomeckelian' SubClassOf 'dermal bone' 'coronomeckelian' SubClassOf 'bone of lower jaw' http://purl.obolibrary.org/obo/UBERON_2001275 sublingual 'sublingual' SubClassOf 'endochondral bone' http://purl.obolibrary.org/obo/UBERON_0003346 mucosa of rectum 'mucosa of rectum' SubClassOf 'mucosa of large intestine' http://purl.obolibrary.org/obo/UBERON_0003342 mucosa of anal canal 'mucosa of anal canal' SubClassOf 'mucosa of large intestine' http://purl.obolibrary.org/obo/UBERON_0003343 mucosa of oral region 'mucosa of oral region' SubClassOf 'mouth mucosa' http://purl.obolibrary.org/obo/UBERON_2001269 regenerating fin/limb 'regenerating fin/limb' SubClassOf 'paired limb/fin' http://purl.obolibrary.org/obo/UBERON_0003351 pharyngeal epithelium 'pharyngeal epithelium' SubClassOf 'respiratory system epithelium' 'pharyngeal epithelium' SubClassOf 'endo-epithelium' 'pharyngeal epithelium' SubClassOf 'digestive tract epithelium' http://purl.obolibrary.org/obo/UBERON_0003350 epithelium of mucosa 'epithelium of mucosa' SubClassOf 'epithelium' http://purl.obolibrary.org/obo/UBERON_0003357 epithelium of tongue 'epithelium of tongue' SubClassOf 'sensory organ epithelium' 'epithelium of tongue' SubClassOf 'digestive tract epithelium' http://purl.obolibrary.org/obo/UBERON_0003356 epithelium of nasal septum 'epithelium of nasal septum' SubClassOf 'nose epithelium' http://purl.obolibrary.org/obo/UBERON_0003359 epithelium of submandibular gland 'epithelium of submandibular gland' SubClassOf 'salivary gland epithelium' 'epithelium of submandibular gland' SubClassOf 'epithelium of lower jaw' http://purl.obolibrary.org/obo/UBERON_0003358 epithelium of soft palate 'epithelium of soft palate' SubClassOf 'ecto-epithelium' 'epithelium of soft palate' SubClassOf 'epithelium of upper jaw' http://purl.obolibrary.org/obo/UBERON_0003353 epithelium of hindgut 'epithelium of hindgut' SubClassOf 'digestive tract epithelium' http://purl.obolibrary.org/obo/UBERON_0003352 epithelium of midgut 'epithelium of midgut' SubClassOf 'digestive tract epithelium' http://purl.obolibrary.org/obo/UBERON_0003355 epithelium of incisor 'epithelium of incisor' SubClassOf 'ecto-epithelium' http://purl.obolibrary.org/obo/UBERON_0003354 epithelium of rectum 'epithelium of rectum' SubClassOf 'epithelium of terminal part of digestive tract' 'epithelium of rectum' SubClassOf 'epithelium of large intestine' http://purl.obolibrary.org/obo/UBERON_2001190 Weberian vertebra 'Weberian vertebra' SubClassOf 'precaudal vertebra' http://purl.obolibrary.org/obo/UBERON_2001191 supraneural 2 bone 'supraneural 2 bone' SubClassOf 'supraneural bone' http://purl.obolibrary.org/obo/UBERON_2001192 supraneural 3 bone 'supraneural 3 bone' SubClassOf 'supraneural bone' http://purl.obolibrary.org/obo/UBERON_2001193 supraneural 8 bone 'supraneural 8 bone' SubClassOf 'supraneural bone' http://purl.obolibrary.org/obo/UBERON_3000515 pseudoangular 'pseudoangular' SubClassOf 'endochondral bone' 'pseudoangular' SubClassOf 'bone of lower jaw' http://purl.obolibrary.org/obo/UBERON_3000518 pseudodentary 'pseudodentary' SubClassOf 'bone of lower jaw' 'pseudodentary' SubClassOf 'dermal bone' 'pseudodentary' SubClassOf 'endochondral bone' http://purl.obolibrary.org/obo/UBERON_3000519 pseudodentary tooth 'pseudodentary tooth' SubClassOf 'tooth of lower jaw' http://purl.obolibrary.org/obo/UBERON_3000572 sphenethmoid 'sphenethmoid' SubClassOf 'endochondral bone' http://purl.obolibrary.org/obo/MONDO_0001502 retroperitoneum carcinoma 'retroperitoneum carcinoma' SubClassOf 'carcinoma' 'retroperitoneum carcinoma' SubClassOf 'retroperitoneal cancer' http://purl.obolibrary.org/obo/MONDO_0001515 corneal degeneration 'corneal degeneration' SubClassOf 'corneal disease' http://purl.obolibrary.org/obo/MONDO_0001519 entropion (disease) 'entropion (disease)' SubClassOf 'eyelid disease' http://purl.obolibrary.org/obo/MONDO_0001524 globe disease 'globe disease' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/MONDO_0001528 vulva cancer 'vulva cancer' SubClassOf 'female reproductive organ cancer' 'vulva cancer' SubClassOf 'vulvar neoplasm' http://purl.obolibrary.org/obo/MONDO_0001530 secondary hyperparathyroidism of renal origin 'secondary hyperparathyroidism of renal origin' SubClassOf 'impaired renal function disease' 'secondary hyperparathyroidism of renal origin' SubClassOf 'secondary hyperparathyroidism' 'secondary hyperparathyroidism of renal origin' DisjointWith 'non-renal secondary hyperparathyroidism' http://purl.obolibrary.org/obo/MONDO_0013517 beta-thalassemia HBB/LCRB 'beta-thalassemia HBB/LCRB' SubClassOf 'Beta-thalassemia' http://purl.obolibrary.org/obo/MONDO_0013511 cyanosis, transient neonatal 'cyanosis, transient neonatal' SubClassOf 'inherited genetic disease' http://purl.obolibrary.org/obo/MONDO_0001549 hemolytic-uremic syndrome 'hemolytic-uremic syndrome' SubClassOf 'normocytic anemia' 'hemolytic-uremic syndrome' SubClassOf 'blood coagulation disease' http://purl.obolibrary.org/obo/MONDO_0001554 phacogenic glaucoma 'phacogenic glaucoma' SubClassOf 'glaucoma' http://purl.obolibrary.org/obo/MONDO_0001563 vestibulocochlear nerve disease 'vestibulocochlear nerve disease' SubClassOf 'peripheral nervous system disease' 'vestibulocochlear nerve disease' SubClassOf 'cranial nerve neuropathy' 'vestibulocochlear nerve disease' SubClassOf 'retrocochlear disease' http://purl.obolibrary.org/obo/MONDO_0025511 inherited neuroendocrine tumor 'inherited neuroendocrine tumor' SubClassOf 'has modifier' some 'rare' 'inherited neuroendocrine tumor' EquivalentTo 'neuroendocrine neoplasm' and ('has modifier' some 'inherited') 'inherited neuroendocrine tumor' SubClassOf 'neuroendocrine neoplasm' 'inherited neuroendocrine tumor' SubClassOf 'inherited genetic disease' http://purl.obolibrary.org/obo/MONDO_0025513 autoimmune urticaria 'autoimmune urticaria' SubClassOf 'autoimmune disease with skin involvement' 'autoimmune urticaria' SubClassOf 'urticaria' http://purl.obolibrary.org/obo/MONDO_0001566 hypercalcemia disease 'hypercalcemia disease' SubClassOf 'calcium metabolic disease' http://purl.obolibrary.org/obo/MONDO_0001574 capillary disease 'capillary disease' SubClassOf 'vascular disease' http://purl.obolibrary.org/obo/MONDO_0001572 leiomyoma 'leiomyoma' SubClassOf 'Benign Smooth Muscle Neoplasm' http://purl.obolibrary.org/obo/MONDO_0001576 telangiectasis 'telangiectasis' SubClassOf 'peripheral vascular disease' 'telangiectasis' SubClassOf 'vascular ectasia' http://purl.obolibrary.org/obo/MONDO_0013562 aspergillosis, susceptibility to 'aspergillosis, susceptibility to' SubClassOf 'predisposes towards' some 'aspergillosis' 'aspergillosis, susceptibility to' SubClassOf 'Genetic susceptibility to infections due to particular pathogens' 'aspergillosis, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'aspergillosis') http://purl.obolibrary.org/obo/MONDO_0001597 submandibular gland disease 'submandibular gland disease' SubClassOf 'salivary gland disease' http://purl.obolibrary.org/obo/MONDO_0001595 choreatic disease 'choreatic disease' SubClassOf 'movement disorder' http://purl.obolibrary.org/obo/MONDO_0013578 DYRK1A-related intellectual disability syndrome 'DYRK1A-related intellectual disability syndrome' SubClassOf 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'DYRK1A-related intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' 'DYRK1A-related intellectual disability syndrome' SubClassOf 'congenital nervous system disorder' 'DYRK1A-related intellectual disability syndrome' SubClassOf 'autosomal dominant disease' 'DYRK1A-related intellectual disability syndrome' SubClassOf 'Rare genetic neurological disorder' http://purl.obolibrary.org/obo/MONDO_0001377 vitreous syneresis 'vitreous syneresis' SubClassOf 'eye degenerative disease' 'vitreous syneresis' SubClassOf 'vitreous disease' http://purl.obolibrary.org/obo/MONDO_0001370 pericardial effusion (disease) 'pericardial effusion (disease)' SubClassOf 'pericardium disease' http://purl.obolibrary.org/obo/MONDO_0001384 myopia (disease) 'myopia (disease)' SubClassOf 'refractive error' http://purl.obolibrary.org/obo/MONDO_0040998 Pasteurella multocida infectious disease 'Pasteurella multocida infectious disease' SubClassOf 'pasteurellosis' http://purl.obolibrary.org/obo/MONDO_0025371 Parvoviridae infectious disease 'Parvoviridae infectious disease' SubClassOf 'viral disease' http://purl.obolibrary.org/obo/UBERON_0005806 portal system 'portal system' SubClassOf 'vasculature' http://purl.obolibrary.org/obo/UBERON_0005805 dorsal aorta 'dorsal aorta' SubClassOf 'trunk blood vessel' 'dorsal aorta' SubClassOf 'aorta' http://purl.obolibrary.org/obo/UBERON_0015231 circulatory system dorsal vessel 'circulatory system dorsal vessel' SubClassOf 'vessel' http://purl.obolibrary.org/obo/UBERON_0003241 epithelium of utricle 'epithelium of utricle' SubClassOf 'vestibular epithelium' http://purl.obolibrary.org/obo/UBERON_0003240 epithelium of lateral semicircular canal 'epithelium of lateral semicircular canal' SubClassOf 'inner ear epithelium' http://purl.obolibrary.org/obo/UBERON_0003247 epithelium of forearm 'epithelium of forearm' SubClassOf 'ecto-epithelium' http://purl.obolibrary.org/obo/UBERON_0003246 epithelium of endolymphatic sac 'epithelium of endolymphatic sac' SubClassOf 'inner ear epithelium' http://purl.obolibrary.org/obo/UBERON_0003249 epithelium of otic placode 'epithelium of otic placode' SubClassOf 'ecto-epithelium' 'epithelium of otic placode' SubClassOf 'ear epithelium' http://purl.obolibrary.org/obo/UBERON_0003248 epithelium of footplate 'epithelium of footplate' SubClassOf 'ecto-epithelium' 'epithelium of footplate' SubClassOf 'unilaminar epithelium' http://purl.obolibrary.org/obo/UBERON_0003243 epithelium of cochlear duct 'epithelium of cochlear duct' SubClassOf 'inner ear epithelium' http://purl.obolibrary.org/obo/UBERON_0003242 epithelium of saccule 'epithelium of saccule' SubClassOf 'vestibular epithelium' http://purl.obolibrary.org/obo/UBERON_0003244 epithelium of mammary gland 'epithelium of mammary gland' SubClassOf 'ecto-epithelium' http://purl.obolibrary.org/obo/UBERON_3010067 M. gracilis minor 'M. gracilis minor' SubClassOf 'pelvic complex muscle' http://purl.obolibrary.org/obo/UBERON_3010068 M. semimembranosus 'M. semimembranosus' SubClassOf 'pelvic complex muscle' http://purl.obolibrary.org/obo/UBERON_0015227 peristaltic circulatory vessel 'peristaltic circulatory vessel' SubClassOf 'vessel' http://purl.obolibrary.org/obo/UBERON_0003250 rectus capitis lateralis muscle 'rectus capitis lateralis muscle' SubClassOf 'muscle of vertebral column' 'rectus capitis lateralis muscle' SubClassOf 'muscle of neck' 'lateral rectus extra-ocular muscle' DisjointWith 'rectus capitis lateralis muscle' http://purl.obolibrary.org/obo/UBERON_0003258 endoderm of foregut 'endoderm of foregut' SubClassOf 'foregut epithelium' 'endoderm of foregut' SubClassOf 'endo-epithelium' 'endoderm of foregut' SubClassOf 'unilaminar epithelium' http://purl.obolibrary.org/obo/UBERON_0003257 yolk sac endoderm 'yolk sac endoderm' SubClassOf 'extraembryonic tissue' 'yolk sac endoderm' SubClassOf 'endo-epithelium' http://purl.obolibrary.org/obo/UBERON_3010065 M. gracilis major 'M. gracilis major' SubClassOf 'pelvic complex muscle' http://purl.obolibrary.org/obo/UBERON_0003259 endoderm of midgut 'endoderm of midgut' SubClassOf 'endo-epithelium' 'endoderm of midgut' SubClassOf 'unilaminar epithelium' 'endoderm of midgut' SubClassOf 'epithelium of midgut' http://purl.obolibrary.org/obo/UBERON_0003254 amniotic ectoderm 'amniotic ectoderm' SubClassOf 'unilaminar epithelium' 'amniotic ectoderm' SubClassOf 'extraembryonic tissue' 'amniotic ectoderm' SubClassOf 'meso-epithelium' http://purl.obolibrary.org/obo/UBERON_3010060 centrale (fore) 'centrale (fore)' SubClassOf 'carpal bone' 'centrale (fore)' SubClassOf 'centrale' http://purl.obolibrary.org/obo/UBERON_3010061 anterior quadratocranial commissure 'anterior quadratocranial commissure' SubClassOf 'pharyngeal arch cartilage' http://purl.obolibrary.org/obo/UBERON_0015251 modified sebaceous gland 'modified sebaceous gland' SubClassOf 'sebaceous gland' http://purl.obolibrary.org/obo/UBERON_3010039 protandrous hermaphroditic organism 'protandrous hermaphroditic organism' SubClassOf 'sequential hermaphroditic organism' http://purl.obolibrary.org/obo/UBERON_0015252 coat hair follicle 'coat hair follicle' SubClassOf 'hair follicle' http://purl.obolibrary.org/obo/UBERON_4300188 terminal scale 'terminal scale' SubClassOf 'dermal scale' http://purl.obolibrary.org/obo/UBERON_4300182 anterior sclerotic cartilage 'anterior sclerotic cartilage' SubClassOf 'scleral cartilage' http://purl.obolibrary.org/obo/UBERON_4300181 posterior sclerotic cartilage 'posterior sclerotic cartilage' SubClassOf 'scleral cartilage' http://purl.obolibrary.org/obo/UBERON_0003261 thyroid primordium endoderm 'thyroid primordium endoderm' SubClassOf 'endoderm' http://purl.obolibrary.org/obo/UBERON_0003260 endoderm of hindgut 'endoderm of hindgut' SubClassOf 'epithelium of hindgut' 'endoderm of hindgut' SubClassOf 'unilaminar epithelium' 'endoderm of hindgut' SubClassOf 'endo-epithelium' http://purl.obolibrary.org/obo/UBERON_0003262 amniotic mesoderm 'amniotic mesoderm' SubClassOf 'extraembryonic membrane mesenchyme' http://purl.obolibrary.org/obo/UBERON_0003269 skeletal muscle tissue of eye 'skeletal muscle tissue of eye' SubClassOf 'skeletal muscle tissue' http://purl.obolibrary.org/obo/UBERON_0003268 tooth of lower jaw 'tooth of lower jaw' SubClassOf 'tooth' http://purl.obolibrary.org/obo/UBERON_3010032 M. semitendinosus 'M. semitendinosus' SubClassOf 'pelvic complex muscle' http://purl.obolibrary.org/obo/UBERON_0003265 chorionic mesenchyme 'chorionic mesenchyme' SubClassOf 'extraembryonic membrane mesenchyme' http://purl.obolibrary.org/obo/UBERON_0027239 dopaminergic system 'dopaminergic system' SubClassOf 'catecholamine system' http://purl.obolibrary.org/obo/UBERON_0003267 tooth of upper jaw 'tooth of upper jaw' SubClassOf 'tooth' http://purl.obolibrary.org/obo/UBERON_3010049 M. gemellus 'M. gemellus' SubClassOf 'pelvic complex muscle' http://purl.obolibrary.org/obo/UBERON_3010045 centrale 1 'centrale 1' SubClassOf 'tarsal bone' 'centrale 1' SubClassOf 'centrale' http://purl.obolibrary.org/obo/UBERON_3010047 M. quadratus femoris 'M. quadratus femoris' SubClassOf 'pelvic complex muscle' http://purl.obolibrary.org/obo/UBERON_4300199 postsplenial 'postsplenial' SubClassOf 'dermal bone' 'postsplenial' SubClassOf 'bone of lower jaw' http://purl.obolibrary.org/obo/UBERON_0015249 digit skin 'digit skin' SubClassOf 'autopod skin' http://purl.obolibrary.org/obo/UBERON_4300193 unbranched anal fin ray 'unbranched anal fin ray' SubClassOf 'anal fin ray' http://purl.obolibrary.org/obo/UBERON_4300192 branched pelvic fin ray 'branched pelvic fin ray' SubClassOf 'pelvic fin ray' http://purl.obolibrary.org/obo/UBERON_0003274 mesothelium of omental bursa 'mesothelium of omental bursa' SubClassOf 'mesothelium' http://purl.obolibrary.org/obo/UBERON_0027221 adrenergic system 'adrenergic system' SubClassOf 'catecholamine system' http://purl.obolibrary.org/obo/UBERON_0027225 noradrenergic system 'noradrenergic system' SubClassOf 'catecholamine system' http://purl.obolibrary.org/obo/UBERON_0003279 endothelium of trachea 'endothelium of trachea' SubClassOf 'endothelium' 'endothelium of trachea' SubClassOf 'epithelium of trachea' http://purl.obolibrary.org/obo/UBERON_3010042 protogynous hermaphroditic organism 'protogynous hermaphroditic organism' SubClassOf 'sequential hermaphroditic organism' http://purl.obolibrary.org/obo/UBERON_0005868 maxillary prominence 'maxillary prominence' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_2001171 os suspensorium 'os suspensorium' SubClassOf 'endochondral bone' http://purl.obolibrary.org/obo/UBERON_3010090 M. tibialis anticus brevis 'M. tibialis anticus brevis' SubClassOf 'pelvic complex muscle' http://purl.obolibrary.org/obo/UBERON_0005867 mandibular prominence 'mandibular prominence' SubClassOf 'embryonic facial prominence' http://purl.obolibrary.org/obo/UBERON_3010097 M. tarsalis posticus 'M. tarsalis posticus' SubClassOf 'pelvic complex muscle' http://purl.obolibrary.org/obo/UBERON_3010098 M. plantaris profundus 'M. plantaris profundus' SubClassOf 'pelvic complex muscle' http://purl.obolibrary.org/obo/UBERON_0005879 pharyngeal cleft 'pharyngeal cleft' SubClassOf 'pharyngeal ectoderm' http://purl.obolibrary.org/obo/UBERON_2001160 dorsal scute 'dorsal scute' SubClassOf 'fish scute' http://purl.obolibrary.org/obo/UBERON_2001163 supraneural 7 bone 'supraneural 7 bone' SubClassOf 'supraneural bone' http://purl.obolibrary.org/obo/UBERON_2001164 supraneural 6 bone 'supraneural 6 bone' SubClassOf 'supraneural bone' http://purl.obolibrary.org/obo/UBERON_2001165 supraneural 5 bone 'supraneural 5 bone' SubClassOf 'supraneural bone' http://purl.obolibrary.org/obo/UBERON_2001166 supraneural 9 bone 'supraneural 9 bone' SubClassOf 'supraneural bone' http://purl.obolibrary.org/obo/UBERON_0003214 mammary gland alveolus 'mammary gland alveolus' SubClassOf 'alveolus' http://purl.obolibrary.org/obo/UBERON_0005875 4th arch pharyngeal cleft '4th arch pharyngeal cleft' SubClassOf 'pharyngeal cleft' http://purl.obolibrary.org/obo/UBERON_0005876 undifferentiated genital tubercle 'undifferentiated genital tubercle' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0005873 2nd arch pharyngeal cleft '2nd arch pharyngeal cleft' SubClassOf 'pharyngeal cleft' http://purl.obolibrary.org/obo/UBERON_0005874 3rd arch pharyngeal cleft '3rd arch pharyngeal cleft' SubClassOf 'pharyngeal cleft' http://purl.obolibrary.org/obo/UBERON_0003211 median eye 'median eye' SubClassOf 'eye' 'lateral ocellus' DisjointWith 'median eye' http://purl.obolibrary.org/obo/UBERON_0005872 1st arch pharyngeal cleft '1st arch pharyngeal cleft' SubClassOf 'pharyngeal cleft' http://purl.obolibrary.org/obo/UBERON_0003229 epithelium of elbow 'epithelium of elbow' SubClassOf 'ecto-epithelium' http://purl.obolibrary.org/obo/UBERON_3010078 M. iliacus externus 'M. iliacus externus' SubClassOf 'pelvic complex muscle' http://purl.obolibrary.org/obo/UBERON_0003228 supinator muscle 'supinator muscle' SubClassOf 'forelimb zeugopod muscle' http://purl.obolibrary.org/obo/UBERON_0015214 arcuate ligament 'arcuate ligament' SubClassOf 'ligament' http://purl.obolibrary.org/obo/UBERON_2001150 tooth 2D 'tooth 2D' SubClassOf 'ceratobranchial 5 tooth' http://purl.obolibrary.org/obo/UBERON_0015215 median arcuate ligament 'median arcuate ligament' SubClassOf 'arcuate ligament' http://purl.obolibrary.org/obo/UBERON_2001151 tooth 4MD 'tooth 4MD' SubClassOf 'ceratobranchial 5 tooth' http://purl.obolibrary.org/obo/UBERON_2001152 tooth 3MD 'tooth 3MD' SubClassOf 'ceratobranchial 5 tooth' http://purl.obolibrary.org/obo/UBERON_2001154 anal fin musculature 'anal fin musculature' SubClassOf 'appendage musculature' http://purl.obolibrary.org/obo/UBERON_0015213 barnacle cement gland 'barnacle cement gland' SubClassOf 'exocrine gland' http://purl.obolibrary.org/obo/UBERON_3010074 M. ileo-femoralis 'M. ileo-femoralis' SubClassOf 'pelvic complex muscle' http://purl.obolibrary.org/obo/UBERON_3010076 M. iliacus internus 'M. iliacus internus' SubClassOf 'pelvic complex muscle' http://purl.obolibrary.org/obo/UBERON_0003221 phalanx 'phalanx' SubClassOf 'limb long bone' 'phalanx' SubClassOf 'digitopodium bone' http://purl.obolibrary.org/obo/UBERON_3010070 M. ileo-fibularis 'M. ileo-fibularis' SubClassOf 'pelvic complex muscle' http://purl.obolibrary.org/obo/UBERON_0003220 metanephric mesenchyme 'metanephric mesenchyme' SubClassOf 'presumptive structure' http://purl.obolibrary.org/obo/UBERON_0005882 neural tube alar plate 'neural tube alar plate' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_3010072 M. pyriformis 'M. pyriformis' SubClassOf 'pelvic complex muscle' http://purl.obolibrary.org/obo/UBERON_0003222 flexor digitorum superficialis 'flexor digitorum superficialis' SubClassOf 'forelimb zeugopod muscle' http://purl.obolibrary.org/obo/UBERON_0005883 neural tube lateral wall mantle layer 'neural tube lateral wall mantle layer' SubClassOf 'neural tube mantle layer' http://purl.obolibrary.org/obo/UBERON_3010073 centrale 2 'centrale 2' SubClassOf 'centrale' 'centrale 2' SubClassOf 'tarsal bone' http://purl.obolibrary.org/obo/UBERON_3010089 M. extensor cruris brevis 'M. extensor cruris brevis' SubClassOf 'pelvic complex muscle' http://purl.obolibrary.org/obo/UBERON_0003239 epithelium of posterior semicircular canal 'epithelium of posterior semicircular canal' SubClassOf 'inner ear epithelium' 'epithelium of superior semicircular canal' DisjointWith 'epithelium of posterior semicircular canal' http://purl.obolibrary.org/obo/UBERON_0015203 non-connected functional system 'non-connected functional system' SubClassOf 'anatomical system' http://purl.obolibrary.org/obo/UBERON_0015204 glandular system 'glandular system' SubClassOf 'non-connected functional system' http://purl.obolibrary.org/obo/UBERON_2001141 tooth 1V 'tooth 1V' SubClassOf 'ceratobranchial 5 tooth' http://purl.obolibrary.org/obo/UBERON_2001144 tooth 2V 'tooth 2V' SubClassOf 'ceratobranchial 5 tooth' http://purl.obolibrary.org/obo/UBERON_2001146 tooth 1MD 'tooth 1MD' SubClassOf 'ceratobranchial 5 tooth' http://purl.obolibrary.org/obo/UBERON_0005891 coelomic epithelium 'coelomic epithelium' SubClassOf 'epithelium' http://purl.obolibrary.org/obo/UBERON_2001147 tooth 2MD 'tooth 2MD' SubClassOf 'ceratobranchial 5 tooth' http://purl.obolibrary.org/obo/UBERON_0005892 mesonephric early distal tubule 'mesonephric early distal tubule' SubClassOf 'mesonephric tubule' http://purl.obolibrary.org/obo/UBERON_2001148 tooth 1D 'tooth 1D' SubClassOf 'ceratobranchial 5 tooth' http://purl.obolibrary.org/obo/UBERON_0003230 epithelium of carpal region 'epithelium of carpal region' SubClassOf 'ecto-epithelium' 'epithelium of carpal region' SubClassOf 'unilaminar epithelium' http://purl.obolibrary.org/obo/UBERON_0005890 gonad germinal epithelium 'gonad germinal epithelium' SubClassOf 'epithelium of gonad' http://purl.obolibrary.org/obo/UBERON_0005899 pes bone 'pes bone' SubClassOf 'autopod bone' 'pes bone' SubClassOf 'hindlimb bone' http://purl.obolibrary.org/obo/UBERON_0003236 epithelium of lower jaw 'epithelium of lower jaw' SubClassOf 'jaw epithelium' http://purl.obolibrary.org/obo/UBERON_0003235 epithelium of upper jaw 'epithelium of upper jaw' SubClassOf 'jaw epithelium' http://purl.obolibrary.org/obo/UBERON_0005897 manus bone 'manus bone' SubClassOf 'forelimb bone' 'manus bone' SubClassOf 'autopod bone' http://purl.obolibrary.org/obo/UBERON_0003238 epithelium of superior semicircular canal 'epithelium of superior semicircular canal' DisjointWith 'epithelium of posterior semicircular canal' 'epithelium of superior semicircular canal' SubClassOf 'inner ear epithelium' http://purl.obolibrary.org/obo/UBERON_3010087 M. tibialis anticus longus 'M. tibialis anticus longus' SubClassOf 'pelvic complex muscle' http://purl.obolibrary.org/obo/UBERON_0003232 epithelium of knee 'epithelium of knee' SubClassOf 'ecto-epithelium' http://purl.obolibrary.org/obo/UBERON_0005895 insect leg 'insect leg' SubClassOf 'appendage' http://purl.obolibrary.org/obo/UBERON_0003231 epithelium of hip 'epithelium of hip' SubClassOf 'ecto-epithelium' http://purl.obolibrary.org/obo/UBERON_3010082 M. pulmonum proprius 'M. pulmonum proprius' SubClassOf 'pelvic complex muscle' http://purl.obolibrary.org/obo/UBERON_0005893 leg bone 'leg bone' SubClassOf 'hindlimb bone' http://purl.obolibrary.org/obo/UBERON_0003234 extensor pollicis longus muscle 'extensor pollicis longus muscle' SubClassOf 'extrinsic extensor muscle of manus' http://purl.obolibrary.org/obo/UBERON_0003233 epithelium of shoulder 'epithelium of shoulder' SubClassOf 'ecto-epithelium' http://purl.obolibrary.org/obo/UBERON_3010084 M. tibialis posticus 'M. tibialis posticus' SubClassOf 'pelvic complex muscle' http://purl.obolibrary.org/obo/UBERON_4300244 premaxillary tooth 3 'premaxillary tooth 3' SubClassOf 'premaxillary tooth' http://purl.obolibrary.org/obo/UBERON_4300243 premaxillary tooth 2 'premaxillary tooth 2' SubClassOf 'premaxillary tooth' http://purl.obolibrary.org/obo/UBERON_4300242 lateral line scale 6 'lateral line scale 6' SubClassOf 'lateral line scale' http://purl.obolibrary.org/obo/UBERON_2001095 immature macula 'immature macula' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_2001096 immature anterior macula 'immature anterior macula' SubClassOf 'immature macula' http://purl.obolibrary.org/obo/UBERON_2001097 immature posterior macula 'immature posterior macula' SubClassOf 'immature macula' http://purl.obolibrary.org/obo/UBERON_4300248 fused hypural 1 and 2 'fused hypural 1 and 2' SubClassOf 'hypural' http://purl.obolibrary.org/obo/UBERON_4300247 dentary tooth 3 'dentary tooth 3' SubClassOf 'dentary tooth' http://purl.obolibrary.org/obo/UBERON_4300246 dentary tooth 2 'dentary tooth 2' SubClassOf 'dentary tooth' http://purl.obolibrary.org/obo/UBERON_4300252 ethmo-palatine cartilage 'ethmo-palatine cartilage' SubClassOf 'pharyngeal arch cartilage' http://purl.obolibrary.org/obo/UBERON_4300251 ventral caudal procurrent ray 4 'ventral caudal procurrent ray 4' SubClassOf 'caudal fin ventral procurrent ray' http://purl.obolibrary.org/obo/UBERON_4300250 ventral caudal procurrent ray 3 'ventral caudal procurrent ray 3' SubClassOf 'caudal fin ventral procurrent ray' http://purl.obolibrary.org/obo/UBERON_3000663 parahyoid 'parahyoid' SubClassOf 'endochondral bone' http://purl.obolibrary.org/obo/UBERON_4300223 precaudal vertebra 'precaudal vertebra' SubClassOf 'vertebra' http://purl.obolibrary.org/obo/UBERON_4300222 axilar scale 'axilar scale' SubClassOf 'dermal scale' http://purl.obolibrary.org/obo/UBERON_4300230 forelimb wing bud 'forelimb wing bud' SubClassOf 'forelimb bud' http://purl.obolibrary.org/obo/UBERON_4300233 mammiliform tooth 'mammiliform tooth' SubClassOf 'tooth' http://purl.obolibrary.org/obo/UBERON_3000645 corpus 'corpus' SubClassOf 'endochondral bone' 'corpus' SubClassOf 'dermal bone' 'corpus' SubClassOf 'bone of jaw' http://purl.obolibrary.org/obo/UBERON_3000642 maxillopalatine tooth 'maxillopalatine tooth' SubClassOf 'tooth of upper jaw' http://purl.obolibrary.org/obo/UBERON_4300238 pored lateral line scale 'pored lateral line scale' SubClassOf 'lateral line scale' http://purl.obolibrary.org/obo/UBERON_4300237 rib of vertebra 8 'rib of vertebra 8' SubClassOf 'rib' http://purl.obolibrary.org/obo/UBERON_4300236 rib of vertebra 7 'rib of vertebra 7' SubClassOf 'rib' http://purl.obolibrary.org/obo/UBERON_4300235 spinoid scale 'spinoid scale' SubClassOf 'cycloid scale' http://purl.obolibrary.org/obo/UBERON_4300239 hind flipper 'hind flipper' SubClassOf 'hindlimb' http://purl.obolibrary.org/obo/UBERON_3010018 M. glutaeus magnus 'M. glutaeus magnus' SubClassOf 'pelvic complex muscle' http://purl.obolibrary.org/obo/UBERON_0003280 endothelium of main bronchus 'endothelium of main bronchus' SubClassOf 'epithelium of main bronchus' 'endothelium of main bronchus' SubClassOf 'endothelium' http://purl.obolibrary.org/obo/UBERON_0003289 meninx of telencephalon 'meninx of telencephalon' SubClassOf 'forebrain meninges' http://purl.obolibrary.org/obo/UBERON_0003288 meninx of midbrain 'meninx of midbrain' SubClassOf 'brain meninx' http://purl.obolibrary.org/obo/UBERON_3010027 M. sartorius 'M. sartorius' SubClassOf 'pelvic complex muscle' http://purl.obolibrary.org/obo/UBERON_0003294 gland of foregut 'gland of foregut' SubClassOf 'gland of digestive tract' http://purl.obolibrary.org/obo/UBERON_0003296 gland of diencephalon 'gland of diencephalon' SubClassOf 'gland' http://purl.obolibrary.org/obo/UBERON_0003295 pharyngeal gland 'pharyngeal gland' SubClassOf 'respiratory system gland' 'pharyngeal gland' SubClassOf 'gland of digestive tract' http://purl.obolibrary.org/obo/UBERON_0003290 meninx of diencephalon 'meninx of diencephalon' SubClassOf 'forebrain meninges' http://purl.obolibrary.org/obo/UBERON_0003292 meninx of spinal cord 'meninx of spinal cord' SubClassOf 'meninx' http://purl.obolibrary.org/obo/UBERON_0003291 meninx of hindbrain 'meninx of hindbrain' SubClassOf 'brain meninx' http://purl.obolibrary.org/obo/UBERON_3010022 M. tensor fasciae latae 'M. tensor fasciae latae' SubClassOf 'pelvic complex muscle' http://purl.obolibrary.org/obo/UBERON_0003297 gland of integumental system 'gland of integumental system' SubClassOf 'gland' http://purl.obolibrary.org/obo/MONDO_0001402 vaginal cancer 'vaginal cancer' SubClassOf 'Vaginal neoplasm' 'vaginal cancer' SubClassOf 'female reproductive organ cancer' http://purl.obolibrary.org/obo/MONDO_0001407 tracheal cancer 'tracheal cancer' SubClassOf 'respiratory system cancer' 'tracheal cancer' SubClassOf 'Tracheal neoplasm' http://purl.obolibrary.org/obo/MONDO_0001406 peripheral nervous system neoplasm 'peripheral nervous system neoplasm' SubClassOf 'nervous system neoplasm' 'peripheral nervous system neoplasm' SubClassOf 'peripheral nervous system disease' http://purl.obolibrary.org/obo/MONDO_0001409 esophagitis (disease) 'esophagitis (disease)' SubClassOf 'esophageal disease' 'esophagitis (disease)' SubClassOf 'inflammatory disease' http://purl.obolibrary.org/obo/MONDO_0001414 osteopoikilosis (disease) 'osteopoikilosis (disease)' SubClassOf 'osteosclerosis' http://purl.obolibrary.org/obo/MONDO_0001416 female reproductive organ cancer 'female reproductive organ cancer' SubClassOf 'reproductive systen cancer' 'female reproductive organ cancer' SubClassOf 'female reproductive system neoplasm' http://purl.obolibrary.org/obo/MONDO_0001423 drug-induced mental disorder 'drug-induced mental disorder' SubClassOf 'mental or behavioural disorder' http://purl.obolibrary.org/obo/MONDO_0001422 primary aldosteronism 'primary aldosteronism' SubClassOf 'adrenal gland disease' http://purl.obolibrary.org/obo/MONDO_0001436 hemosiderosis 'hemosiderosis' SubClassOf 'iron metabolism disease' http://purl.obolibrary.org/obo/MONDO_0001433 vaginal disease 'vaginal disease' SubClassOf 'female reproductive system disease' http://purl.obolibrary.org/obo/MONDO_0013411 cataract 16 multiple types 'cataract 16 multiple types' SubClassOf 'early-onset zonular cataract' http://purl.obolibrary.org/obo/MONDO_0001438 postinflammatory pulmonary fibrosis 'postinflammatory pulmonary fibrosis' SubClassOf 'pulmonary fibrosis' 'postinflammatory pulmonary fibrosis' SubClassOf 'disease arises from feature' some 'inflammatory disease' 'postinflammatory pulmonary fibrosis' EquivalentTo 'pulmonary fibrosis' and ('disease arises from feature' some 'inflammatory disease') http://purl.obolibrary.org/obo/MONDO_0001437 pulmonary alveolar proteinosis 'pulmonary alveolar proteinosis' SubClassOf 'lung disease' http://purl.obolibrary.org/obo/MONDO_0001444 Chagas disease 'Chagas disease' SubClassOf 'has modifier' some 'rare' 'Chagas disease' SubClassOf 'trypanosomiasis' http://purl.obolibrary.org/obo/UBERON_4300205 palato-maxillary ligament 'palato-maxillary ligament' SubClassOf 'ligament' http://purl.obolibrary.org/obo/MONDO_0001459 radial neuropathy 'radial neuropathy' SubClassOf 'brachial plexus neuropathy' 'radial neuropathy' SubClassOf 'mononeuropathy' 'radial neuropathy' SubClassOf 'limb disorder' http://purl.obolibrary.org/obo/UBERON_4300202 endoskeletal cranial joint 'endoskeletal cranial joint' SubClassOf 'skeletal joint' http://purl.obolibrary.org/obo/UBERON_4300209 palato-vomerine ligament 'palato-vomerine ligament' SubClassOf 'ligament' http://purl.obolibrary.org/obo/UBERON_4300207 submandibular bone 'submandibular bone' SubClassOf 'dermal bone' http://purl.obolibrary.org/obo/UBERON_4300206 mandibulo-lacrimal ligament 'mandibulo-lacrimal ligament' SubClassOf 'ligament' http://purl.obolibrary.org/obo/UBERON_4300211 lateral plate 'lateral plate' SubClassOf 'bony plate' http://purl.obolibrary.org/obo/UBERON_4300210 transversus epibranchialis 2 'transversus epibranchialis 2' SubClassOf 'branchial muscle' http://purl.obolibrary.org/obo/MONDO_0001476 coloboma 'coloboma' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/MONDO_0001475 neutropenia 'neutropenia' SubClassOf 'leukocyte disease' http://purl.obolibrary.org/obo/MONDO_0001487 intrahepatic bile duct cancer 'intrahepatic bile duct cancer' SubClassOf 'bile duct cancer' http://purl.obolibrary.org/obo/MONDO_0001256 arteriovenous hemangioma/malformation 'arteriovenous hemangioma/malformation' SubClassOf 'hemangioma' http://purl.obolibrary.org/obo/UBERON_0005709 upper jaw incisor epithelium 'upper jaw incisor epithelium' SubClassOf 'dental epithelium' 'upper jaw incisor epithelium' SubClassOf 'epithelium of incisor' 'upper jaw incisor epithelium' SubClassOf 'epithelium of upper jaw' http://purl.obolibrary.org/obo/UBERON_0005707 upper jaw incisor odontogenic papilla 'upper jaw incisor odontogenic papilla' SubClassOf 'mesenchyme of upper jaw' 'upper jaw incisor odontogenic papilla' SubClassOf 'mesenchyme from rhombencephalic neural crest' 'upper jaw incisor odontogenic papilla' SubClassOf 'odontogenic papilla of incisor' http://purl.obolibrary.org/obo/UBERON_0005708 lower jaw incisor odontogenic papilla 'lower jaw incisor odontogenic papilla' SubClassOf 'mesenchyme of lower jaw' 'lower jaw incisor odontogenic papilla' SubClassOf 'odontogenic papilla of incisor' 'lower jaw incisor odontogenic papilla' SubClassOf 'facial mesenchyme' 'lower jaw incisor odontogenic papilla' SubClassOf 'mesenchyme from rhombencephalic neural crest' http://purl.obolibrary.org/obo/UBERON_0005705 primary palate mesenchyme 'primary palate mesenchyme' SubClassOf 'mesenchyme from rhombencephalic neural crest' 'primary palate mesenchyme' SubClassOf 'mesenchyme of upper jaw' http://purl.obolibrary.org/obo/MONDO_0001259 pituitary gland infarction 'pituitary gland infarction' SubClassOf 'necrosis of pituitary' http://purl.obolibrary.org/obo/UBERON_0005704 secondary palatal shelf mesenchyme 'secondary palatal shelf mesenchyme' SubClassOf 'mesenchyme of upper jaw' http://purl.obolibrary.org/obo/UBERON_2001412 epiotic 'epiotic' SubClassOf 'endochondral bone' 'epiotic' SubClassOf 'neurocranium bone' http://purl.obolibrary.org/obo/UBERON_2001415 pelvic fin distal radial bone 2 'pelvic fin distal radial bone 2' SubClassOf 'pelvic fin distal radial bone' http://purl.obolibrary.org/obo/UBERON_2001416 pelvic fin distal radial bone 3 'pelvic fin distal radial bone 3' SubClassOf 'pelvic fin distal radial bone' http://purl.obolibrary.org/obo/UBERON_2001417 pelvic fin distal radial bone 1 'pelvic fin distal radial bone 1' SubClassOf 'pelvic fin distal radial bone' http://purl.obolibrary.org/obo/UBERON_0005701 lower jaw molar odontogenic papilla 'lower jaw molar odontogenic papilla' SubClassOf 'facial mesenchyme' 'lower jaw molar odontogenic papilla' SubClassOf 'mesenchyme of lower jaw' 'lower jaw molar odontogenic papilla' SubClassOf 'mesenchyme from rhombencephalic neural crest' 'lower jaw molar odontogenic papilla' SubClassOf 'molar dental papilla' http://purl.obolibrary.org/obo/UBERON_0005700 upper jaw molar odontogenic papilla 'upper jaw molar odontogenic papilla' SubClassOf 'molar dental papilla' 'upper jaw molar odontogenic papilla' SubClassOf 'mesenchyme from rhombencephalic neural crest' 'upper jaw molar odontogenic papilla' SubClassOf 'mesenchyme of upper jaw' http://purl.obolibrary.org/obo/UBERON_0005719 footplate apical ectodermal ridge 'footplate apical ectodermal ridge' SubClassOf 'apical ectodermal ridge' http://purl.obolibrary.org/obo/MONDO_0001269 scleral disease 'scleral disease' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/UBERON_2001403 supraethmoid 'supraethmoid' SubClassOf 'dermal bone' 'supraethmoid' SubClassOf 'neurocranium bone' http://purl.obolibrary.org/obo/UBERON_2001404 preethmoid bone 'preethmoid bone' SubClassOf 'neurocranium bone' 'preethmoid bone' SubClassOf 'endochondral bone' http://purl.obolibrary.org/obo/UBERON_2001406 kinethmoid bone 'kinethmoid bone' SubClassOf 'endochondral bone' 'kinethmoid bone' SubClassOf 'neurocranium bone' 'kinethmoid bone' SubClassOf 'bone of upper jaw' 'kinethmoid bone' SubClassOf 'dermal bone' http://purl.obolibrary.org/obo/UBERON_2001407 infraorbital 2 'infraorbital 2' SubClassOf 'infraorbital' http://purl.obolibrary.org/obo/UBERON_0005712 midgut duodenum mesentery 'midgut duodenum mesentery' SubClassOf 'mesentery of duodenum' http://purl.obolibrary.org/obo/UBERON_2001408 infraorbital 3 'infraorbital 3' SubClassOf 'infraorbital' http://purl.obolibrary.org/obo/UBERON_2001409 infraorbital 4 'infraorbital 4' SubClassOf 'infraorbital' http://purl.obolibrary.org/obo/UBERON_0005710 lower jaw incisor epithelium 'lower jaw incisor epithelium' SubClassOf 'dental epithelium' 'lower jaw incisor epithelium' SubClassOf 'epithelium of incisor' 'lower jaw incisor epithelium' SubClassOf 'epithelium of lower jaw' http://purl.obolibrary.org/obo/UBERON_0005711 foregut duodenum mesentery 'foregut duodenum mesentery' SubClassOf 'mesentery of duodenum' http://purl.obolibrary.org/obo/UBERON_0005729 pectoral appendage field 'pectoral appendage field' SubClassOf 'paired limb/fin field' 'pectoral appendage field' SubClassOf 'presumptive structure' http://purl.obolibrary.org/obo/UBERON_0005728 extraembryonic mesoderm 'extraembryonic mesoderm' SubClassOf 'extraembryonic tissue' http://purl.obolibrary.org/obo/UBERON_0005726 chemosensory system 'chemosensory system' SubClassOf 'sensory system' http://purl.obolibrary.org/obo/UBERON_0005723 floor plate spinal cord region 'floor plate spinal cord region' SubClassOf 'floor plate of neural tube' http://purl.obolibrary.org/obo/UBERON_0005720 hindbrain venous system 'hindbrain venous system' SubClassOf 'venous system' http://purl.obolibrary.org/obo/MONDO_0001280 choroiditis 'choroiditis' SubClassOf 'optic choroid disease' 'choroiditis' SubClassOf 'posterior uveitis' 'choroiditis' SubClassOf 'vasculitis' http://purl.obolibrary.org/obo/UBERON_0005732 paired limb/fin field 'paired limb/fin field' SubClassOf 'embryonic structure' 'paired limb/fin field' SubClassOf 'anlage' http://purl.obolibrary.org/obo/UBERON_0005733 limb field 'limb field' SubClassOf 'paired limb/fin field' http://purl.obolibrary.org/obo/UBERON_0005730 pelvic appendage field 'pelvic appendage field' SubClassOf 'presumptive structure' 'pelvic appendage field' SubClassOf 'paired limb/fin field' http://purl.obolibrary.org/obo/UBERON_0005731 fin field 'fin field' SubClassOf 'paired limb/fin field' http://purl.obolibrary.org/obo/UBERON_2001450 apical ectodermal ridge pelvic fin 'apical ectodermal ridge pelvic fin' SubClassOf 'apical ectodermal ridge' http://purl.obolibrary.org/obo/MONDO_0001296 acquired night blindness 'acquired night blindness' SubClassOf 'acquired metabolic disease' 'acquired night blindness' EquivalentTo 'night blindness' and ('has modifier' some 'acquired') 'acquired night blindness' SubClassOf 'nutritional deficiency disease' 'acquired night blindness' SubClassOf 'night blindness' 'acquired night blindness' SubClassOf 'has modifier' some 'acquired' http://purl.obolibrary.org/obo/UBERON_2001432 anterior sclerotic bone 'anterior sclerotic bone' SubClassOf 'endochondral scleral ossicle' http://purl.obolibrary.org/obo/UBERON_2001433 posterior sclerotic bone 'posterior sclerotic bone' SubClassOf 'endochondral scleral ossicle' http://purl.obolibrary.org/obo/MONDO_0037256 serous neoplasm 'serous neoplasm' SubClassOf 'glandular cell neoplasm' http://purl.obolibrary.org/obo/UBERON_2001425 basal plate cartilage 'basal plate cartilage' SubClassOf 'cartilage element of chondrocranium' http://purl.obolibrary.org/obo/UBERON_2001428 olfactory rosette 'olfactory rosette' SubClassOf 'nose epithelium' http://purl.obolibrary.org/obo/MONDO_0037254 transitional cell neoplasm 'transitional cell neoplasm' SubClassOf 'epithelial neoplasm' http://purl.obolibrary.org/obo/MONDO_0037255 ovarian serous tumor 'ovarian serous tumor' SubClassOf 'ovarian epithelial tumor' 'ovarian serous tumor' SubClassOf 'serous neoplasm' http://purl.obolibrary.org/obo/UBERON_2001480 dorsal anterior lateral line nerve 'dorsal anterior lateral line nerve' SubClassOf 'lateral line nerve' http://purl.obolibrary.org/obo/UBERON_2001481 ventral anterior lateral line nerve 'ventral anterior lateral line nerve' SubClassOf 'lateral line nerve' http://purl.obolibrary.org/obo/MONDO_0025294 tick-borne infectious disease 'tick-borne infectious disease' SubClassOf 'infectious disease' http://purl.obolibrary.org/obo/UBERON_2001482 middle lateral line nerve 'middle lateral line nerve' SubClassOf 'lateral line nerve' http://purl.obolibrary.org/obo/UBERON_2001483 middle lateral line ganglion 'middle lateral line ganglion' SubClassOf 'lateral line ganglion' http://purl.obolibrary.org/obo/UBERON_0005792 nephric ridge 'nephric ridge' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_3000388 parasphenoid tooth 'parasphenoid tooth' SubClassOf 'tooth' http://purl.obolibrary.org/obo/UBERON_0005798 bicornuate uterus 'bicornuate uterus' SubClassOf 'uterus' http://purl.obolibrary.org/obo/UBERON_0005799 simplex uterus 'simplex uterus' SubClassOf 'uterus' http://purl.obolibrary.org/obo/UBERON_0005796 duplex uterus 'duplex uterus' SubClassOf 'uterus' http://purl.obolibrary.org/obo/UBERON_0005797 bipartite uterus 'bipartite uterus' SubClassOf 'uterus' http://purl.obolibrary.org/obo/UBERON_0005795 embryonic uterus 'embryonic uterus' SubClassOf 'presumptive structure' http://purl.obolibrary.org/obo/UBERON_0015132 extralobar lactiferous duct 'extralobar lactiferous duct' SubClassOf 'mammary duct' http://purl.obolibrary.org/obo/UBERON_0015137 tertiary lactiferous duct 'tertiary lactiferous duct' SubClassOf 'mammary duct' http://purl.obolibrary.org/obo/UBERON_0015138 quarternary lactiferous duct 'quarternary lactiferous duct' SubClassOf 'mammary duct' http://purl.obolibrary.org/obo/UBERON_2001472 anterior lateral line neuromast 'anterior lateral line neuromast' SubClassOf 'neuromast' http://purl.obolibrary.org/obo/UBERON_0015133 terminal lactiferous duct 'terminal lactiferous duct' SubClassOf 'mammary duct' http://purl.obolibrary.org/obo/UBERON_0015134 main lactiferous duct 'main lactiferous duct' SubClassOf 'mammary duct' http://purl.obolibrary.org/obo/UBERON_0015135 primary lactiferous duct 'primary lactiferous duct' SubClassOf 'mammary duct' http://purl.obolibrary.org/obo/UBERON_2001475 sublingual dorsal ossification 'sublingual dorsal ossification' SubClassOf 'sublingual' http://purl.obolibrary.org/obo/UBERON_0015136 secondary lactiferous duct 'secondary lactiferous duct' SubClassOf 'mammary duct' http://purl.obolibrary.org/obo/UBERON_2001476 sublingual ventral ossification 'sublingual ventral ossification' SubClassOf 'sublingual' http://purl.obolibrary.org/obo/UBERON_0003142 prepupa 'prepupa' SubClassOf 'whole organism' http://purl.obolibrary.org/obo/UBERON_3000363 otic ligament 'otic ligament' SubClassOf 'skeletal ligament' http://purl.obolibrary.org/obo/UBERON_0015128 subepicardial layer of epicardium 'subepicardial layer of epicardium' SubClassOf 'mesothelium of serous pericardium' http://purl.obolibrary.org/obo/UBERON_0015129 epicardial fat 'epicardial fat' SubClassOf 'pericardial fat' http://purl.obolibrary.org/obo/UBERON_2001467 pharyngeal mesoderm 'pharyngeal mesoderm' SubClassOf 'mesoderm' http://purl.obolibrary.org/obo/UBERON_3000368 otoccipital 'otoccipital' SubClassOf 'endochondral bone' http://purl.obolibrary.org/obo/UBERON_0005754 rostral part of nephrogenic cord 'rostral part of nephrogenic cord' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0005753 caudal part of nephrogenic cord 'caudal part of nephrogenic cord' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0005750 glomerular parietal epithelium 'glomerular parietal epithelium' SubClassOf 'simple squamous epithelium' 'glomerular parietal epithelium' SubClassOf 'glomerular epithelium' http://purl.obolibrary.org/obo/UBERON_0005751 visceral layer of glomerular capsule 'visceral layer of glomerular capsule' SubClassOf 'nephron epithelium' http://purl.obolibrary.org/obo/UBERON_0003107 Meckel's cartilage 'Meckel's cartilage' SubClassOf 'pharyngeal arch cartilage' http://purl.obolibrary.org/obo/UBERON_0003106 urostyle 'urostyle' SubClassOf 'endochondral bone' http://purl.obolibrary.org/obo/UBERON_0003100 female organism 'female organism' DisjointWith 'male organism' 'female organism' SubClassOf 'whole organism' http://purl.obolibrary.org/obo/UBERON_0003101 male organism 'female organism' DisjointWith 'male organism' 'male organism' SubClassOf 'whole organism' http://purl.obolibrary.org/obo/UBERON_0017748 lower primary incisor tooth 'lower primary incisor tooth' SubClassOf 'lower jaw incisor' 'lower primary incisor tooth' SubClassOf 'primary lower tooth' 'lower primary incisor tooth' SubClassOf 'primary incisor tooth' http://purl.obolibrary.org/obo/UBERON_0003115 pharyngeal arch 4 'pharyngeal arch 4' SubClassOf 'pharyngeal arch' http://purl.obolibrary.org/obo/UBERON_0003114 pharyngeal arch 3 'pharyngeal arch 3' SubClassOf 'pharyngeal arch' http://purl.obolibrary.org/obo/UBERON_0003117 pharyngeal arch 6 'pharyngeal arch 6' SubClassOf 'pharyngeal arch' http://purl.obolibrary.org/obo/UBERON_0003116 pharyngeal arch 5 'pharyngeal arch 5' SubClassOf 'pharyngeal arch' http://purl.obolibrary.org/obo/UBERON_0015189 perineural vascular plexus 'perineural vascular plexus' SubClassOf 'capillary bed' http://purl.obolibrary.org/obo/UBERON_3000309 narial muscles 'narial muscles' SubClassOf 'cranial muscle' http://purl.obolibrary.org/obo/UBERON_0015152 gland of ocular region 'gland of ocular region' SubClassOf 'gland' http://purl.obolibrary.org/obo/UBERON_0015153 medial gland of ocular region 'medial gland of ocular region' SubClassOf 'gland of ocular region' 'medial gland of ocular region' DisjointWith 'lateral gland of orbital region' http://purl.obolibrary.org/obo/UBERON_0015154 lateral gland of orbital region 'medial gland of ocular region' DisjointWith 'lateral gland of orbital region' 'lateral gland of orbital region' SubClassOf 'gland of ocular region' http://purl.obolibrary.org/obo/UBERON_0015150 dorsal hair 'dorsal hair' SubClassOf 'strand of hair' http://purl.obolibrary.org/obo/UBERON_0015156 terminal branch of ophthalmic artery 'terminal branch of ophthalmic artery' SubClassOf 'systemic artery' 'terminal branch of ophthalmic artery' SubClassOf 'head blood vessel' http://purl.obolibrary.org/obo/UBERON_0015157 zygomatico-orbital artery 'zygomatico-orbital artery' SubClassOf 'head blood vessel' 'zygomatico-orbital artery' SubClassOf 'systemic artery' http://purl.obolibrary.org/obo/UBERON_0015158 ophthalmotemporal branch of external ophthalmic artery 'ophthalmotemporal branch of external ophthalmic artery' SubClassOf 'systemic artery' 'ophthalmotemporal branch of external ophthalmic artery' SubClassOf 'head blood vessel' http://purl.obolibrary.org/obo/UBERON_0003162 lateral ocellus 'lateral ocellus' SubClassOf 'dorsal ocellus' 'lateral ocellus' DisjointWith 'median eye' http://purl.obolibrary.org/obo/UBERON_0003161 dorsal ocellus 'dorsal ocellus' SubClassOf 'head sensillum' http://purl.obolibrary.org/obo/MONDO_0003916 overnutrition 'overnutrition' SubClassOf 'nutritional disorder' http://purl.obolibrary.org/obo/UBERON_0015142 falciform fat 'falciform fat' SubClassOf 'abdominal fat pad' 'falciform fat' SubClassOf 'mesenteric fat pad' http://purl.obolibrary.org/obo/UBERON_0015143 mesenteric fat pad 'mesenteric fat pad' SubClassOf 'fat pad' http://purl.obolibrary.org/obo/UBERON_0015148 tail hair 'tail hair' SubClassOf 'strand of hair' http://purl.obolibrary.org/obo/UBERON_0015149 ventral hair 'ventral hair' SubClassOf 'strand of hair' http://purl.obolibrary.org/obo/UBERON_0015144 autopod hair 'autopod hair' SubClassOf 'strand of hair' http://purl.obolibrary.org/obo/UBERON_0015145 pes hair 'pes hair' SubClassOf 'autopod hair' http://purl.obolibrary.org/obo/UBERON_0015146 manus hair 'manus hair' SubClassOf 'autopod hair' http://purl.obolibrary.org/obo/UBERON_0015147 pinna hair 'pinna hair' SubClassOf 'strand of hair on external ear' http://purl.obolibrary.org/obo/UBERON_3000348 os basale 'os basale' SubClassOf 'bone' http://purl.obolibrary.org/obo/MONDO_0015900 hypoaldosteronism disease 'hypoaldosteronism disease' SubClassOf 'adrenal gland disease' http://purl.obolibrary.org/obo/UBERON_0015173 helicine branch of uterine artery 'helicine branch of uterine artery' SubClassOf 'helicine artery' 'uterine spiral artery' DisjointWith 'helicine branch of uterine artery' 'helicine branch of uterine artery' SubClassOf 'systemic artery' http://purl.obolibrary.org/obo/UBERON_0015174 helicine artery of penis 'helicine artery of penis' SubClassOf 'penis blood vessel' 'helicine artery of penis' SubClassOf 'helicine artery' http://purl.obolibrary.org/obo/UBERON_0015170 nauplius eye 'nauplius eye' SubClassOf 'eye' http://purl.obolibrary.org/obo/UBERON_0015171 uterine spiral artery 'uterine spiral artery' DisjointWith 'helicine branch of uterine artery' 'uterine spiral artery' SubClassOf 'artery' 'uterine spiral artery' SubClassOf 'endometrial blood vessel' http://purl.obolibrary.org/obo/UBERON_0015172 endometrial blood vessel 'endometrial blood vessel' SubClassOf 'blood vessel' http://purl.obolibrary.org/obo/MONDO_0015916 rare neuroinflammatory or neuroimmunological disease 'rare neuroinflammatory or neuroimmunological disease' SubClassOf 'nervous system disease' 'rare neuroinflammatory or neuroimmunological disease' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0015914 primary orthostatic hypotension 'primary orthostatic hypotension' SubClassOf 'has modifier' some 'rare' 'primary orthostatic hypotension' SubClassOf 'nervous system disease' http://purl.obolibrary.org/obo/MONDO_0015913 rare thrombotic disease of hematologic origin 'rare thrombotic disease of hematologic origin' SubClassOf 'blood coagulation disease' 'rare thrombotic disease of hematologic origin' SubClassOf 'thrombotic disease' 'rare thrombotic disease of hematologic origin' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/UBERON_0015177 helicine artery 'helicine artery' SubClassOf 'artery' http://purl.obolibrary.org/obo/UBERON_0015179 somite boundary epithelium 'somite boundary epithelium' SubClassOf 'epithelium' http://purl.obolibrary.org/obo/MONDO_0015917 malignant glioma 'malignant glioma' SubClassOf 'high grade malignant neoplasm' 'malignant glioma' SubClassOf 'glioma' 'malignant glioma' SubClassOf 'has modifier' some 'rare' 'malignant glioma' SubClassOf 'central nervous system cancer' http://purl.obolibrary.org/obo/MONDO_0003939 muscle tissue disease 'muscle tissue disease' SubClassOf 'muscular disease' http://purl.obolibrary.org/obo/MONDO_0003937 spondylitis 'spondylitis' SubClassOf 'vertebral disease' 'spondylitis' SubClassOf 'inflammatory disease' http://purl.obolibrary.org/obo/UBERON_0015162 superior branch of oculomotor nerve 'superior branch of oculomotor nerve' SubClassOf 'nerve of head region' 'superior branch of oculomotor nerve' SubClassOf 'artery' 'superior branch of oculomotor nerve' SubClassOf 'head blood vessel' http://purl.obolibrary.org/obo/UBERON_0015165 multi-unit eye 'multi-unit eye' SubClassOf 'eye' http://purl.obolibrary.org/obo/UBERON_0015160 supraorbital artery 'supraorbital artery' SubClassOf 'head blood vessel' 'supraorbital artery' SubClassOf 'systemic artery' http://purl.obolibrary.org/obo/UBERON_0015161 inferior branch of oculomotor nerve 'inferior branch of oculomotor nerve' SubClassOf 'artery' 'inferior branch of oculomotor nerve' SubClassOf 'nerve of head region' 'inferior branch of oculomotor nerve' SubClassOf 'head blood vessel' http://purl.obolibrary.org/obo/MONDO_0015929 thoracic malformation 'thoracic malformation' SubClassOf 'respiratory or thoracic malformation' http://purl.obolibrary.org/obo/MONDO_0015928 secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease 'secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease' SubClassOf 'secondary interstitial lung disease in childhood and adulthood associated with a systemic disease' http://purl.obolibrary.org/obo/MONDO_0015923 acquired peripheral neuropathy 'acquired peripheral neuropathy' SubClassOf 'has modifier' some 'acquired' 'acquired peripheral neuropathy' SubClassOf 'peripheral neuropathy' 'acquired peripheral neuropathy' EquivalentTo 'peripheral neuropathy' and ('has modifier' some 'acquired') 'acquired peripheral neuropathy' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/UBERON_3000323 nasopremaxilla 'nasopremaxilla' SubClassOf 'dermal bone' 'nasopremaxilla' SubClassOf 'bone of upper jaw' http://purl.obolibrary.org/obo/MONDO_0003947 hyper-IgM syndrome 'hyper-IgM syndrome' SubClassOf 'hyperimmunoglobulin syndrome' 'hyper-IgM syndrome' SubClassOf 'disease of signal transduction' http://purl.obolibrary.org/obo/MONDO_0015938 systemic disease 'systemic disease' SubClassOf 'systemic or rheumatic disease' http://purl.obolibrary.org/obo/MONDO_0015937 rare inflammatory eye disease 'rare inflammatory eye disease' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/MONDO_0015939 systemic autoimmune disease 'systemic autoimmune disease' SubClassOf 'systemic disease' 'systemic autoimmune disease' SubClassOf 'type II hypersensitivity reaction disease' http://purl.obolibrary.org/obo/MONDO_0015934 non-syndromic urogenital tract malformation of male and female 'non-syndromic urogenital tract malformation of male and female' SubClassOf 'non-syndromic urogenital tract malformation' http://purl.obolibrary.org/obo/MONDO_0015933 non-syndromic urogenital tract malformation of male 'non-syndromic urogenital tract malformation of male' SubClassOf 'male reproductive system disease' 'non-syndromic urogenital tract malformation of male' SubClassOf 'non-syndromic urogenital tract malformation' http://purl.obolibrary.org/obo/MONDO_0015932 non-syndromic urogenital tract malformation of female 'non-syndromic urogenital tract malformation of female' SubClassOf 'female reproductive system disease' 'non-syndromic urogenital tract malformation of female' SubClassOf 'non-syndromic urogenital tract malformation' http://purl.obolibrary.org/obo/MONDO_0001302 hypertensive heart disease 'hypertensive heart disease' SubClassOf 'heart disease' 'hypertensive heart disease' SubClassOf 'disease arises from feature' some 'hypertension' 'hypertensive heart disease' EquivalentTo 'heart disease' and ('disease arises from feature' some 'hypertension') http://purl.obolibrary.org/obo/MONDO_0001308 corneal deposit 'corneal deposit' SubClassOf 'corneal disease' http://purl.obolibrary.org/obo/MONDO_0001318 functional gastric disease 'functional gastric disease' SubClassOf 'stomach disease' http://purl.obolibrary.org/obo/MONDO_0001316 streptococcal meningitis 'streptococcal meningitis' SubClassOf 'bacterial meningitis' 'streptococcal meningitis' SubClassOf 'streptococcal infection' http://purl.obolibrary.org/obo/MONDO_0003987 lung lymphoma 'lung lymphoma' SubClassOf 'lymphoma' 'lung lymphoma' SubClassOf 'lung cancer' http://purl.obolibrary.org/obo/MONDO_0001325 penile cancer 'penile cancer' SubClassOf 'penile neoplasm' 'penile cancer' SubClassOf 'male reproductive organ cancer' 'penile cancer' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/UBERON_6006032 mesothoracic tergum primordium 'mesothoracic tergum primordium' SubClassOf 'simple columnar epithelium' 'mesothoracic tergum primordium' SubClassOf 'ecto-epithelium' http://purl.obolibrary.org/obo/MONDO_0001328 thyroid hormone resistance syndrome 'thyroid hormone resistance syndrome' SubClassOf 'disease of receptor activity' 'thyroid hormone resistance syndrome' SubClassOf 'disease has feature' some 'hyperthyroxinemia' 'thyroid hormone resistance syndrome' SubClassOf 'inherited thyroid metabolism disease' http://purl.obolibrary.org/obo/MONDO_0001331 conjunctival deposit 'conjunctival deposit' SubClassOf 'Conjunctival Disorder' http://purl.obolibrary.org/obo/MONDO_0001336 familial hyperlipidemia 'familial hyperlipidemia' SubClassOf 'hyperlipidemia (disease)' 'familial hyperlipidemia' EquivalentTo 'hyperlipidemia (disease)' and ('has modifier' some 'inherited') 'familial hyperlipidemia' SubClassOf 'Disorder of lipid metabolism' http://purl.obolibrary.org/obo/MONDO_0025303 anaplasmosis 'anaplasmosis' SubClassOf 'tick-borne infectious disease' 'anaplasmosis' SubClassOf 'zoonotic bacterial infection' 'anaplasmosis' SubClassOf 'primary Anaplasmataceae infectious disease' http://purl.obolibrary.org/obo/MONDO_0001334 hypertrichosis of eyelid 'hypertrichosis of eyelid' SubClassOf 'eyelid disease' 'hypertrichosis of eyelid' SubClassOf 'Rare genetic neurological disorder' 'hypertrichosis of eyelid' SubClassOf 'Hypertrichosis' http://purl.obolibrary.org/obo/MONDO_0001343 impaired renal function disease 'impaired renal function disease' SubClassOf 'kidney disease' http://purl.obolibrary.org/obo/MONDO_0001342 dysgammaglobulinemia (disease) 'dysgammaglobulinemia (disease)' SubClassOf 'selective immunoglobulin deficiency disease' 'dysgammaglobulinemia (disease)' SubClassOf 'blood protein disease' http://purl.obolibrary.org/obo/UBERON_6006011 pharate adult 'pharate adult' SubClassOf 'whole organism' http://purl.obolibrary.org/obo/MONDO_0001357 hypochromic anemia (disease) 'hypochromic anemia (disease)' SubClassOf 'anemia (disease)' http://purl.obolibrary.org/obo/MONDO_0025102 monkey disease 'monkey disease' SubClassOf 'non-human primate disease' http://purl.obolibrary.org/obo/MONDO_0027766 generalized lipodystrophy 'generalized lipodystrophy' SubClassOf 'lipodystrophy' 'generalized lipodystrophy' DisjointWith 'partial lipodystrophy' http://purl.obolibrary.org/obo/MONDO_0027767 partial lipodystrophy 'generalized lipodystrophy' DisjointWith 'partial lipodystrophy' 'partial lipodystrophy' SubClassOf 'lipodystrophy' http://purl.obolibrary.org/obo/MONDO_0001146 fourth cranial nerve palsy 'fourth cranial nerve palsy' SubClassOf 'cranial nerve palsy' 'fourth cranial nerve palsy' SubClassOf 'trochlear nerve disease' http://purl.obolibrary.org/obo/MONDO_0001149 microcephaly (disease) 'microcephaly (disease)' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0001147 meningocele (disease) 'meningocele (disease)' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/UBERON_0005608 hyoid artery 'hyoid artery' SubClassOf 'artery' http://purl.obolibrary.org/obo/UBERON_0005607 hyaloid vascular plexus 'hyaloid vascular plexus' SubClassOf 'vascular plexus' http://purl.obolibrary.org/obo/UBERON_0005604 extrahepatic part of hepatic duct 'extrahepatic part of hepatic duct' SubClassOf 'bile duct' http://purl.obolibrary.org/obo/UBERON_0005605 intrahepatic part of hepatic duct 'intrahepatic part of hepatic duct' SubClassOf 'intrahepatic bile duct' http://purl.obolibrary.org/obo/MONDO_0001152 amnestic disorder 'amnestic disorder' SubClassOf 'cognitive disorder' http://purl.obolibrary.org/obo/MONDO_0015798 inflammatory myofibroblastic tumor 'inflammatory myofibroblastic tumor' SubClassOf 'has modifier' some 'rare' 'inflammatory myofibroblastic tumor' SubClassOf 'Soft Tissue Neoplasm' http://purl.obolibrary.org/obo/MONDO_0015790 central diabetes insipidus 'central diabetes insipidus' SubClassOf 'Pituitary deficiency' 'central diabetes insipidus' SubClassOf 'neuroendocrine disease' http://purl.obolibrary.org/obo/UBERON_0005601 dorsal mesocardium 'dorsal mesocardium' SubClassOf 'mesocardium' http://purl.obolibrary.org/obo/MONDO_0015792 transient congenital hypothyroidism 'transient congenital hypothyroidism' SubClassOf 'Congenital hypothyroidism' http://purl.obolibrary.org/obo/MONDO_0001165 tongue disease 'tongue disease' SubClassOf 'mouth disease' 'tongue disease' SubClassOf 'sensory system disease' http://purl.obolibrary.org/obo/UBERON_0005617 mesenteric vein 'mesenteric vein' SubClassOf 'vein' http://purl.obolibrary.org/obo/UBERON_0005615 lens equatorial epithelium 'lens equatorial epithelium' SubClassOf 'epithelium of lens' http://purl.obolibrary.org/obo/UBERON_0005616 mesenteric artery 'mesenteric artery' SubClassOf 'abdominal aorta artery' http://purl.obolibrary.org/obo/MONDO_0027772 lung colloid adenocarcinoma 'lung colloid adenocarcinoma' SubClassOf 'lung adenocarcinoma' 'lung colloid adenocarcinoma' SubClassOf 'mucinous carcinoma' http://purl.obolibrary.org/obo/MONDO_0001162 impulse control disorder 'impulse control disorder' SubClassOf 'psychiatric disorder' http://purl.obolibrary.org/obo/MONDO_0040732 Pseudomonas aeruginosa infectious disease 'Pseudomonas aeruginosa infectious disease' SubClassOf 'Pseudomonas infection' http://purl.obolibrary.org/obo/UBERON_0005613 left dorsal aorta 'left dorsal aorta' SubClassOf 'trunk blood vessel' 'left dorsal aorta' SubClassOf 'aorta' http://purl.obolibrary.org/obo/UBERON_0005614 lens anterior epithelium 'lens anterior epithelium' SubClassOf 'epithelium of lens' http://purl.obolibrary.org/obo/UBERON_0005612 intercostal artery 'intercostal artery' SubClassOf 'thoracic segment blood vessel' 'intercostal artery' SubClassOf 'systemic artery' http://purl.obolibrary.org/obo/UBERON_0005610 iliac vein 'iliac vein' SubClassOf 'vein' http://purl.obolibrary.org/obo/MONDO_0025149 encephalopathy, bovine spongiform 'encephalopathy, bovine spongiform' SubClassOf 'prion disease' 'encephalopathy, bovine spongiform' SubClassOf 'disease shares features of' some 'variant Creutzfeldt-Jakob disease' 'encephalopathy, bovine spongiform' SubClassOf 'cattle disease' http://purl.obolibrary.org/obo/MONDO_0001174 conjunctival vascular disease 'conjunctival vascular disease' SubClassOf 'ocular vascular disease' 'conjunctival vascular disease' SubClassOf 'Conjunctival Disorder' http://purl.obolibrary.org/obo/UBERON_2001333 sublingual dorsal and ventral fused 'sublingual dorsal and ventral fused' SubClassOf 'sublingual' http://purl.obolibrary.org/obo/MONDO_0001187 urinary bladder cancer 'urinary bladder cancer' SubClassOf 'Malignant Urinary System Neoplasm' 'urinary bladder cancer' SubClassOf 'bladder tumor' http://purl.obolibrary.org/obo/UBERON_2001324 enteric musculature 'enteric musculature' SubClassOf 'musculature of body' http://purl.obolibrary.org/obo/MONDO_0001198 acquired thrombocytopenia 'acquired thrombocytopenia' SubClassOf 'blood platelet disease' 'acquired thrombocytopenia' SubClassOf 'has modifier' some 'acquired' http://purl.obolibrary.org/obo/UBERON_0017651 salivary gland primordium 'salivary gland primordium' SubClassOf 'primordium' 'salivary gland primordium' SubClassOf 'presumptive structure' http://purl.obolibrary.org/obo/UBERON_2001371 pancreatic system 'pancreatic system' SubClassOf 'anatomical system' http://purl.obolibrary.org/obo/UBERON_0017653 intermaxillary salivary gland 'intermaxillary salivary gland' SubClassOf 'saliva-secreting gland' http://purl.obolibrary.org/obo/UBERON_0017652 intermaxillary gland (sensu Osteolepiformes) 'intermaxillary gland (sensu Osteolepiformes)' SubClassOf 'gland' http://purl.obolibrary.org/obo/UBERON_0017654 buccal gland 'buccal gland' SubClassOf 'mucous gland' http://purl.obolibrary.org/obo/UBERON_0005660 2nd arch ectoderm '2nd arch ectoderm' SubClassOf 'ectoderm' http://purl.obolibrary.org/obo/UBERON_0005661 3rd arch ectoderm '3rd arch ectoderm' SubClassOf 'ectoderm' http://purl.obolibrary.org/obo/UBERON_0005669 peritoneal cavity mesothelium 'peritoneal cavity mesothelium' SubClassOf 'mesothelium' http://purl.obolibrary.org/obo/UBERON_0005666 4th arch endoderm '4th arch endoderm' SubClassOf 'endoderm' http://purl.obolibrary.org/obo/UBERON_0005667 connecting stalk mesoderm 'connecting stalk mesoderm' SubClassOf 'mesenchyme of umbilical cord' http://purl.obolibrary.org/obo/UBERON_0005664 2nd arch endoderm '2nd arch endoderm' SubClassOf 'endoderm' http://purl.obolibrary.org/obo/UBERON_0005665 3rd arch endoderm '3rd arch endoderm' SubClassOf 'endoderm' http://purl.obolibrary.org/obo/UBERON_0005662 4th arch ectoderm '4th arch ectoderm' SubClassOf 'ectoderm' http://purl.obolibrary.org/obo/UBERON_0017640 unpaired venous dural sinus 'unpaired venous dural sinus' SubClassOf 'venous dural sinus' 'paired venous dural sinus' DisjointWith 'unpaired venous dural sinus' http://purl.obolibrary.org/obo/UBERON_0017646 internal mammary vein 'internal mammary vein' SubClassOf 'vein' http://purl.obolibrary.org/obo/UBERON_0017647 prevertebral muscle of neck 'prevertebral muscle of neck' SubClassOf 'muscle of neck' 'prevertebral muscle of neck' SubClassOf 'prevertebral muscle' http://purl.obolibrary.org/obo/UBERON_0017642 communicating branch of spinal nerve 'communicating branch of spinal nerve' SubClassOf 'nerve' http://purl.obolibrary.org/obo/UBERON_0017641 meningeal branch of spinal nerve 'meningeal branch of spinal nerve' SubClassOf 'nerve' http://purl.obolibrary.org/obo/UBERON_2001364 hemal spine 'hemal spine' SubClassOf 'bone of dorsum' 'hemal spine' SubClassOf 'endochondral bone' http://purl.obolibrary.org/obo/UBERON_0017643 external thoracic vein 'external thoracic vein' SubClassOf 'thoracic vein' http://purl.obolibrary.org/obo/UBERON_0005671 greater sac mesothelium 'greater sac mesothelium' SubClassOf 'mesothelium' http://purl.obolibrary.org/obo/UBERON_0005672 right lung endothelium 'right lung endothelium' SubClassOf 'endothelium' 'right lung endothelium' SubClassOf 'epithelium of right lung' http://purl.obolibrary.org/obo/UBERON_0005670 greater omentum mesothelium 'greater omentum mesothelium' SubClassOf 'mesothelium' http://purl.obolibrary.org/obo/UBERON_0005679 right lung caudal lobe segmental bronchus 'right lung caudal lobe segmental bronchus' SubClassOf 'segmental bronchus' http://purl.obolibrary.org/obo/UBERON_0005677 caecum mesentery 'caecum mesentery' SubClassOf 'mesentery of colon' http://purl.obolibrary.org/obo/UBERON_0005678 right lung cranial lobe segmental bronchus 'right lung cranial lobe segmental bronchus' SubClassOf 'segmental bronchus' http://purl.obolibrary.org/obo/UBERON_0005675 right lung caudal lobe endothelium 'right lung caudal lobe endothelium' SubClassOf 'right lung caudal lobe epithelium' 'right lung caudal lobe endothelium' SubClassOf 'right lung endothelium' http://purl.obolibrary.org/obo/UBERON_0005676 right lung accessory lobe endothelium 'right lung accessory lobe endothelium' SubClassOf 'right lung accessory lobe epithelium' 'right lung accessory lobe endothelium' SubClassOf 'right lung endothelium' http://purl.obolibrary.org/obo/UBERON_0005673 left lung endothelium 'left lung endothelium' SubClassOf 'epithelium of left lung' 'left lung endothelium' SubClassOf 'endothelium' http://purl.obolibrary.org/obo/UBERON_0005674 right lung cranial lobe endothelium 'right lung cranial lobe endothelium' SubClassOf 'right lung endothelium' 'right lung cranial lobe endothelium' SubClassOf 'right lung cranial lobe epithelium' http://purl.obolibrary.org/obo/UBERON_0005682 right lung accessory lobe bronchiole 'right lung accessory lobe bronchiole' SubClassOf 'right lung bronchiole' http://purl.obolibrary.org/obo/UBERON_0005680 right lung accessory lobe segmental bronchus 'right lung accessory lobe segmental bronchus' SubClassOf 'segmental bronchus' http://purl.obolibrary.org/obo/UBERON_0005681 right lung upper lobe bronchiole 'right lung upper lobe bronchiole' SubClassOf 'right lung bronchiole' http://purl.obolibrary.org/obo/UBERON_0005689 2nd arch mesenchyme '2nd arch mesenchyme' SubClassOf 'pharyngeal arch mesenchymal region' http://purl.obolibrary.org/obo/UBERON_0005686 caecum dorsal mesentery 'caecum dorsal mesentery' SubClassOf 'dorsal mesentery' http://purl.obolibrary.org/obo/UBERON_0005687 orbitosphenoid cartilage element 'orbitosphenoid cartilage element' SubClassOf 'facial mesenchyme' 'orbitosphenoid cartilage element' SubClassOf 'cartilage element of chondrocranium' 'orbitosphenoid cartilage element' SubClassOf 'head mesenchyme from mesoderm' http://purl.obolibrary.org/obo/UBERON_0005685 midgut dorsal mesentery 'midgut dorsal mesentery' SubClassOf 'dorsal mesentery' http://purl.obolibrary.org/obo/UBERON_2001342 presumptive intervening zone 'presumptive intervening zone' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0005691 4th arch mesenchyme '4th arch mesenchyme' SubClassOf 'pharyngeal arch mesenchymal region' http://purl.obolibrary.org/obo/UBERON_0005690 3rd arch mesenchyme '3rd arch mesenchyme' SubClassOf 'pharyngeal arch mesenchymal region' http://purl.obolibrary.org/obo/UBERON_0005628 ileal artery 'iliac artery' DisjointWith 'ileal artery' 'ileal artery' SubClassOf 'systemic artery' http://purl.obolibrary.org/obo/UBERON_0005629 vascular plexus 'vascular plexus' SubClassOf 'vasculature' http://purl.obolibrary.org/obo/UBERON_0017617 efferent spiracular artery 'efferent spiracular artery' SubClassOf 'head blood vessel' 'efferent spiracular artery' SubClassOf 'craniocervical region vein' 'efferent spiracular artery' SubClassOf 'respiratory system artery' http://purl.obolibrary.org/obo/UBERON_0017616 afferent spiracular artery 'afferent spiracular artery' SubClassOf 'head blood vessel' 'afferent spiracular artery' SubClassOf 'respiratory system artery' http://purl.obolibrary.org/obo/UBERON_0017618 extensor pollicis brevis muscle 'extensor pollicis brevis muscle' SubClassOf 'extrinsic extensor muscle of manus' http://purl.obolibrary.org/obo/UBERON_0005624 suprarenal artery 'suprarenal artery' SubClassOf 'artery' http://purl.obolibrary.org/obo/UBERON_0005622 right dorsal aorta 'right dorsal aorta' SubClassOf 'trunk blood vessel' 'right dorsal aorta' SubClassOf 'aorta' http://purl.obolibrary.org/obo/UBERON_0005639 right lung cranial lobe epithelium 'right lung cranial lobe epithelium' SubClassOf 'epithelium of right lung' http://purl.obolibrary.org/obo/UBERON_0005637 pyloric region epithelium 'pyloric region epithelium' SubClassOf 'epithelium of stomach' http://purl.obolibrary.org/obo/UBERON_0005638 anterior chamber epithelium 'anterior chamber epithelium' SubClassOf 'eye epithelium' http://purl.obolibrary.org/obo/UBERON_0005636 caecum epithelium 'caecum epithelium' SubClassOf 'colonic epithelium' http://purl.obolibrary.org/obo/UBERON_0005648 manual digit 5 epithelium 'manual digit 5 epithelium' SubClassOf 'manual digit epithelium' http://purl.obolibrary.org/obo/UBERON_0005649 pedal digit 2 epithelium 'pedal digit 2 epithelium' SubClassOf 'pedal digit epithelium' http://purl.obolibrary.org/obo/UBERON_0017635 paired venous dural sinus 'paired venous dural sinus' SubClassOf 'venous dural sinus' 'paired venous dural sinus' DisjointWith 'unpaired venous dural sinus' 'paired venous dural sinus' SubClassOf 'head blood vessel' http://purl.obolibrary.org/obo/UBERON_0017634 xenarthrale 'xenarthrale' SubClassOf 'intervertebral joint' http://purl.obolibrary.org/obo/UBERON_0017637 marginal venous sinus 'marginal venous sinus' SubClassOf 'paired venous dural sinus' http://purl.obolibrary.org/obo/UBERON_2001394 neural arch 3 'neural arch 3' SubClassOf 'neural arch' http://purl.obolibrary.org/obo/UBERON_2001395 neural arch 4 'neural arch 4' SubClassOf 'neural arch' http://purl.obolibrary.org/obo/UBERON_2001396 parapophysis + rib of vertebra 4 'parapophysis + rib of vertebra 4' SubClassOf 'endochondral bone' http://purl.obolibrary.org/obo/UBERON_2001397 post-Weberian supraneural 'post-Weberian supraneural' SubClassOf 'supraneural bone' http://purl.obolibrary.org/obo/UBERON_0017639 sinus of von Szily 'sinus of von Szily' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0017638 primitive marginal sinus 'primitive marginal sinus' SubClassOf 'paired venous dural sinus' http://purl.obolibrary.org/obo/UBERON_0005646 manual digit 3 epithelium 'manual digit 3 epithelium' SubClassOf 'manual digit epithelium' http://purl.obolibrary.org/obo/UBERON_0005647 manual digit 4 epithelium 'manual digit 4 epithelium' SubClassOf 'manual digit epithelium' http://purl.obolibrary.org/obo/UBERON_0005644 midgut duodenum epithelium 'midgut duodenum epithelium' SubClassOf 'duodenal epithelium' http://purl.obolibrary.org/obo/UBERON_0005645 manual digit 2 epithelium 'manual digit 2 epithelium' SubClassOf 'manual digit epithelium' http://purl.obolibrary.org/obo/UBERON_0005642 ultimobranchial body epithelium 'ultimobranchial body epithelium' SubClassOf 'endo-epithelium' 'ultimobranchial body epithelium' SubClassOf 'unilaminar epithelium' http://purl.obolibrary.org/obo/UBERON_0005643 foregut duodenum epithelium 'foregut duodenum epithelium' SubClassOf 'duodenal epithelium' http://purl.obolibrary.org/obo/UBERON_0005640 right lung caudal lobe epithelium 'right lung caudal lobe epithelium' SubClassOf 'epithelium of right lung' http://purl.obolibrary.org/obo/UBERON_0005659 primary palate epithelium 'primary palate epithelium' SubClassOf 'epithelium of upper jaw' 'primary palate epithelium' SubClassOf 'ecto-epithelium' http://purl.obolibrary.org/obo/UBERON_0017625 pterygopodial gland 'pterygopodial gland' SubClassOf 'gland' http://purl.obolibrary.org/obo/UBERON_0017620 spine appendage of head 'spine appendage of head' SubClassOf 'spine appendage' http://purl.obolibrary.org/obo/UBERON_0017621 cephalic spine 'cephalic spine' SubClassOf 'spine appendage of head' http://purl.obolibrary.org/obo/UBERON_2001389 regeneration epithelium of fin/limb 'regeneration epithelium of fin/limb' SubClassOf 'epithelium' http://purl.obolibrary.org/obo/UBERON_0005650 pedal digit 3 epithelium 'pedal digit 3 epithelium' SubClassOf 'pedal digit epithelium' http://purl.obolibrary.org/obo/UBERON_0017628 swim bladder gas gland 'swim bladder gas gland' SubClassOf 'gland' http://purl.obolibrary.org/obo/UBERON_0005657 crus commune epithelium 'crus commune epithelium' SubClassOf 'vestibular epithelium' http://purl.obolibrary.org/obo/UBERON_0005658 secondary palatal shelf epithelium 'secondary palatal shelf epithelium' SubClassOf 'ecto-epithelium' 'secondary palatal shelf epithelium' SubClassOf 'epithelium of upper jaw' http://purl.obolibrary.org/obo/UBERON_0005655 right lung accessory lobe epithelium 'right lung accessory lobe epithelium' SubClassOf 'epithelium of right lung' http://purl.obolibrary.org/obo/UBERON_0005656 lens vesicle epithelium 'lens vesicle epithelium' SubClassOf 'ecto-epithelium' http://purl.obolibrary.org/obo/UBERON_0005653 upper jaw molar epithelium 'upper jaw molar epithelium' SubClassOf 'molar epithelium' 'upper jaw molar epithelium' SubClassOf 'epithelium of upper jaw' http://purl.obolibrary.org/obo/UBERON_0005654 lower jaw molar epithelium 'lower jaw molar epithelium' SubClassOf 'molar epithelium' 'lower jaw molar epithelium' SubClassOf 'epithelium of lower jaw' http://purl.obolibrary.org/obo/UBERON_0005651 pedal digit 4 epithelium 'pedal digit 4 epithelium' SubClassOf 'pedal digit epithelium' http://purl.obolibrary.org/obo/UBERON_0005652 pedal digit 5 epithelium 'pedal digit 5 epithelium' SubClassOf 'pedal digit epithelium' http://purl.obolibrary.org/obo/UBERON_0003085 ventral aorta 'ventral aorta' SubClassOf 'aorta' http://purl.obolibrary.org/obo/UBERON_0003084 heart primordium 'heart primordium' SubClassOf 'primordium' http://purl.obolibrary.org/obo/UBERON_0003087 anterior cardinal vein 'posterior cardinal vein' DisjointWith 'anterior cardinal vein' 'anterior cardinal vein' SubClassOf 'cardinal vein' http://purl.obolibrary.org/obo/UBERON_0003081 lateral plate mesoderm 'lateral plate mesoderm' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0003080 anterior neural tube 'anterior neural tube' SubClassOf 'embryonic structure' 'posterior neural tube' DisjointWith 'anterior neural tube' http://purl.obolibrary.org/obo/UBERON_0003088 caudal vein 'caudal vein' SubClassOf 'tail vein' http://purl.obolibrary.org/obo/UBERON_0003098 optic stalk 'optic stalk' SubClassOf 'ecto-epithelium' 'optic stalk' SubClassOf 'developing neuroepithelium' http://purl.obolibrary.org/obo/UBERON_0003097 dorsal fin 'dorsal fin' SubClassOf 'median fin' http://purl.obolibrary.org/obo/UBERON_0003092 ultimobranchial body 'ultimobranchial body' SubClassOf 'endocrine gland' http://purl.obolibrary.org/obo/UBERON_0003091 thyroid primordium 'thyroid primordium' SubClassOf 'primordium' http://purl.obolibrary.org/obo/UBERON_3000428 perilymphatic system 'perilymphatic system' SubClassOf 'sensory system' http://purl.obolibrary.org/obo/UBERON_0003051 ear vesicle 'ear vesicle' SubClassOf 'ecto-epithelium' 'ear vesicle' SubClassOf 'epithelial sac' 'ear vesicle' SubClassOf 'presumptive structure' http://purl.obolibrary.org/obo/UBERON_0003055 periderm 'periderm' SubClassOf 'ecto-epithelium' 'periderm' SubClassOf 'simple squamous epithelium' http://purl.obolibrary.org/obo/MONDO_0003804 blood protein disease 'blood protein disease' SubClassOf 'hematologic disease' http://purl.obolibrary.org/obo/UBERON_0003057 chordal neural plate 'chordal neural plate' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/MONDO_0003812 ovarian endometrial cancer 'ovarian endometrial cancer' SubClassOf 'Malignant epithelial tumor of ovary' 'ovarian endometrial cancer' SubClassOf 'endometrioid tumor' http://purl.obolibrary.org/obo/UBERON_0003063 prechordal plate 'prechordal plate' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0003062 primitive knot 'primitive knot' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0003064 intermediate mesoderm 'intermediate mesoderm' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_3000431 pila antoptica 'pila antoptica' SubClassOf 'cartilage element of chondrocranium' http://purl.obolibrary.org/obo/UBERON_0003060 pronephric duct 'pronephric duct' SubClassOf 'nephric duct' 'pronephric duct' SubClassOf 'meso-epithelium' http://purl.obolibrary.org/obo/UBERON_3000432 pila metoptica 'pila metoptica' SubClassOf 'cartilage element of chondrocranium' http://purl.obolibrary.org/obo/UBERON_0003067 dorsolateral placode 'dorsolateral placode' SubClassOf 'neurogenic placode' http://purl.obolibrary.org/obo/UBERON_0003066 pharyngeal arch 2 'pharyngeal arch 2' SubClassOf 'pharyngeal arch' http://purl.obolibrary.org/obo/MONDO_0003816 articular cartilage disease 'articular cartilage disease' SubClassOf 'cartilage disease' 'articular cartilage disease' SubClassOf 'joint disease' http://purl.obolibrary.org/obo/UBERON_0003074 mesonephric duct 'mesonephric duct' SubClassOf 'nephric duct' 'mesonephric duct' SubClassOf 'mesonephric tubule' http://purl.obolibrary.org/obo/UBERON_0003076 posterior neural tube 'posterior neural tube' SubClassOf 'embryonic structure' 'posterior neural tube' DisjointWith 'anterior neural tube' http://purl.obolibrary.org/obo/UBERON_0003075 neural plate 'neural plate' SubClassOf 'ecto-epithelium' 'neural plate' DisjointWith 'neural plate of carapace' 'neural plate' SubClassOf 'future central nervous system' http://purl.obolibrary.org/obo/UBERON_3000443 plectral apparatus 'plectral apparatus' SubClassOf 'auditory ossicle bone' http://purl.obolibrary.org/obo/MONDO_0003827 transient hypogammaglobulinemia 'transient hypogammaglobulinemia' SubClassOf 'Syndromic agammaglobulinemia' http://purl.obolibrary.org/obo/MONDO_0003832 complement deficiency 'complement deficiency' SubClassOf 'nutritional or metabolic disease' 'complement deficiency' SubClassOf 'immunodeficiency disease' 'complement deficiency' SubClassOf 'metabolic disease' 'complement deficiency' SubClassOf 'Immunodeficiency due to a complement cascade protein anomaly' http://purl.obolibrary.org/obo/MONDO_0015817 aggressive primary cutaneous T-cell lymphoma 'aggressive primary cutaneous T-cell lymphoma' SubClassOf 'primary cutaneous T-cell lymphoma' http://purl.obolibrary.org/obo/MONDO_0015816 indolent primary cutaneous T-cell lymphoma 'indolent primary cutaneous T-cell lymphoma' SubClassOf 'primary cutaneous T-cell lymphoma' http://purl.obolibrary.org/obo/MONDO_0015818 aggressive primary cutaneous B-cell lymphoma 'aggressive primary cutaneous B-cell lymphoma' SubClassOf 'aggressive B-cell non-Hodgkin lymphoma' 'aggressive primary cutaneous B-cell lymphoma' SubClassOf 'primary cutaneous B-cell lymphoma' 'aggressive primary cutaneous B-cell lymphoma' SubClassOf 'immune system cancer' http://purl.obolibrary.org/obo/MONDO_0015828 uterovaginal malformation 'uterovaginal malformation' SubClassOf 'rare gynecologic or obstetric disease' http://purl.obolibrary.org/obo/MONDO_0015829 non-syndromic uterovaginal malformation 'non-syndromic uterovaginal malformation' EquivalentTo 'uterovaginal malformation' and ('has modifier' some 'has an isolated presentation') 'non-syndromic uterovaginal malformation' SubClassOf 'non-syndromic urogenital tract malformation of female' 'non-syndromic uterovaginal malformation' SubClassOf 'uterovaginal malformation' http://purl.obolibrary.org/obo/MONDO_0015820 primary cutaneous B-cell lymphoma 'primary cutaneous B-cell lymphoma' SubClassOf 'primary cutaneous lymphoma' http://purl.obolibrary.org/obo/MONDO_0015822 acquired neutropenia 'acquired neutropenia' SubClassOf 'has modifier' some 'acquired' 'acquired neutropenia' SubClassOf 'acquired immunodeficiency' 'acquired neutropenia' SubClassOf 'neutropenia' 'acquired neutropenia' EquivalentTo 'neutropenia' and ('has modifier' some 'acquired') http://purl.obolibrary.org/obo/MONDO_0015821 mycosis fungoides and variants 'mycosis fungoides and variants' SubClassOf 'indolent primary cutaneous T-cell lymphoma' http://purl.obolibrary.org/obo/MONDO_0003847 inherited genetic disease 'inherited genetic disease' SubClassOf 'has modifier' some 'inherited' 'inherited genetic disease' EquivalentTo 'disease' and ('has modifier' some 'inherited') 'inherited genetic disease' SubClassOf 'disease' http://purl.obolibrary.org/obo/MONDO_0015846 syndromic uterovaginal malformation 'syndromic uterovaginal malformation' SubClassOf 'uterovaginal malformation' 'syndromic uterovaginal malformation' SubClassOf 'syndromic disease' 'syndromic uterovaginal malformation' EquivalentTo 'uterovaginal malformation' and ('has modifier' some 'has a syndromic presentation') http://purl.obolibrary.org/obo/MONDO_0001208 acute respiratory failure 'acute respiratory failure' SubClassOf 'acute disease' 'acute respiratory failure' SubClassOf 'respiratory failure' http://purl.obolibrary.org/obo/MONDO_0003869 childhood brain stem glioma 'childhood brain stem glioma' SubClassOf 'childhood brain stem neoplasm' 'childhood brain stem glioma' SubClassOf 'Brain Stem Glioma' http://purl.obolibrary.org/obo/MONDO_0001212 non-suppurative otitis media 'non-suppurative otitis media' SubClassOf 'Otitis media' http://purl.obolibrary.org/obo/MONDO_0001214 acute conjunctivitis 'acute conjunctivitis' SubClassOf 'acute disease' 'acute conjunctivitis' SubClassOf 'conjunctivitis' http://purl.obolibrary.org/obo/MONDO_0015853 deficient breast volume or number 'deficient breast volume or number' SubClassOf 'rare breast malformation' http://purl.obolibrary.org/obo/MONDO_0015852 excess breast volume or number 'excess breast volume or number' SubClassOf 'rare breast malformation' http://purl.obolibrary.org/obo/MONDO_0015851 rare breast malformation 'rare breast malformation' SubClassOf 'breast disease' 'rare breast malformation' SubClassOf 'rare gynecologic or obstetric disease' http://purl.obolibrary.org/obo/MONDO_0015857 rare non-malformative gynecologic or obstetric disease 'rare non-malformative gynecologic or obstetric disease' SubClassOf 'rare gynecologic or obstetric disease' http://purl.obolibrary.org/obo/MONDO_0015856 syndromic breast hypoplasia/aplasia 'syndromic breast hypoplasia/aplasia' SubClassOf 'deficient breast volume or number' http://purl.obolibrary.org/obo/MONDO_0001222 congenital T-cell immunodeficiency 'congenital T-cell immunodeficiency' SubClassOf 'inherited genetic disease' 'congenital T-cell immunodeficiency' SubClassOf 'T-cell immunodeficiency' 'congenital T-cell immunodeficiency' SubClassOf 'has modifier' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0015861 rare uterine adnexal tumor 'rare uterine adnexal tumor' SubClassOf 'has modifier' some 'rare' 'rare uterine adnexal tumor' SubClassOf 'female reproductive system neoplasm' http://purl.obolibrary.org/obo/MONDO_0015867 vaginal carcinoma 'vaginal carcinoma' SubClassOf 'rare vulvovaginal tumor' 'vaginal carcinoma' SubClassOf 'vaginal cancer' 'vaginal carcinoma' SubClassOf 'carcinoma' http://purl.obolibrary.org/obo/MONDO_0015860 anomaly of puberty or/and menstrual cycle 'anomaly of puberty or/and menstrual cycle' SubClassOf 'rare gynecologic or obstetric disease' http://purl.obolibrary.org/obo/MONDO_0001235 appendix cancer 'appendix cancer' SubClassOf 'appendiceal neoplasm' 'appendix cancer' SubClassOf 'cecum cancer' http://purl.obolibrary.org/obo/MONDO_0003890 infiltrating bladder urothelial carcinoma 'infiltrating bladder urothelial carcinoma' SubClassOf 'infiltrating urothelial carcinoma' 'infiltrating bladder urothelial carcinoma' SubClassOf 'bladder transitional cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0001230 acute orbital inflammation 'acute orbital inflammation' SubClassOf 'disease of orbital part of eye adnexa' http://purl.obolibrary.org/obo/MONDO_0015875 rare non-malformative uterine adnexal disease 'rare non-malformative uterine adnexal disease' SubClassOf 'rare non-malformative gynecologic or obstetric disease' http://purl.obolibrary.org/obo/MONDO_0015879 non-syndromic diaphragmatic or thoracic malformation 'non-syndromic diaphragmatic or thoracic malformation' SubClassOf 'disease' 'non-syndromic diaphragmatic or thoracic malformation' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0015876 rare vulvovaginal tumor 'rare vulvovaginal tumor' SubClassOf 'female reproductive system neoplasm' 'rare vulvovaginal tumor' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0001245 microcytic anemia 'microcytic anemia' SubClassOf 'anemia (disease)' http://purl.obolibrary.org/obo/MONDO_0001240 neonatal anemia 'neonatal anemia' SubClassOf 'anemia (disease)' http://purl.obolibrary.org/obo/MONDO_0015889 rare hypothalamic or pituitary disease 'rare hypothalamic or pituitary disease' SubClassOf 'endocrine system disease' 'rare hypothalamic or pituitary disease' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0015888 other rare diabetes mellitus 'other rare diabetes mellitus' SubClassOf 'has modifier' some 'rare' 'other rare diabetes mellitus' SubClassOf 'diabetes mellitus' http://purl.obolibrary.org/obo/MONDO_0015887 rare diabetes mellitus type 2 'rare diabetes mellitus type 2' SubClassOf 'has modifier' some 'rare' 'rare diabetes mellitus type 2' SubClassOf 'diabetes mellitus' http://purl.obolibrary.org/obo/MONDO_0015881 rare gastroesophageal tumor 'rare gastroesophageal tumor' SubClassOf 'gastroesophageal disease' 'rare gastroesophageal tumor' SubClassOf 'digestive system neoplasm' http://purl.obolibrary.org/obo/MONDO_0015880 syndromic diaphragmatic or thoracic malformation 'syndromic diaphragmatic or thoracic malformation' SubClassOf 'has modifier' some 'rare' 'syndromic diaphragmatic or thoracic malformation' SubClassOf 'disease' http://www.geneontology.org/formats/oboInOwl#ObsoleteClass obsolete class 'obsolete class' SubClassOf http://www.w3.org/2002/07/owl#Thing